### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RYR2) # 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}}" "RYR2" "ryanodine receptor 2 (cardiac)" "1" "q43" "unknown" "NG_008799.2" "UD_132118401537" "" "http://www.LOVD.nl/RYR2" "" "1" "10484" "6262" "180902" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RYR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-27 07:46:23" "00006" "2025-11-18 13:22:59" ## 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}}" "00018334" "RYR2" "ryanodine receptor 2 (cardiac)" "001" "NM_001035.2" "" "NP_001026.2" "" "" "" "-120" "16245" "14904" "237205702" "237997288" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "00946" "-" "cardiomyopathy, hypertrophic, early-onset fatal" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02334" "ARVD2;ARVC2" "dysplasia, arrhythmogenic right ventricular, type 2 (ARVD-2, arrhythmogenic right ventricular cardiomyopathy (ARVC-2))" "AD" "600996" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02523" "CPVT1" "tachycardia, ventricular, catecholaminergic polymorphic, type 1 (CPVT-1)" "AD" "604772" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RYR2" "02334" "RYR2" "02523" ## Individuals ## Do not remove or alter this header ## ## Count = 317 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00016142" "" "" "" "1" "" "00668" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00016146" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00028981" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "Spain" ">48y" "0" "" "" "European" "" "00028993" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">46y" "0" "" "" "white" "" "00043779" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00043781" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "M" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00043785" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00058463" "" "" "" "3" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 3 affecteds" "" "no" "Netherlands" "" "0" "" "" "" "" "00064101" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064105" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064127" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064142" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064153" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064154" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064155" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064196" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064200" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064206" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064226" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064702" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "01y" "0" "" "" "" "" "00064704" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "11y" "0" "" "" "" "" "00064713" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "37y" "0" "" "" "" "" "00064715" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "41y" "0" "" "" "" "" "00065151" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y08m" "0" "" "" "Europe" "SIDS172" "00101861" "" "" "" "1" "" "00006" "{PMID:Bhuiyan 2007:}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "-?" "00101862" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101863" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101864" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101865" "" "" "" "1" "" "00006" "{PMID:d\'Amati 2005:16084945}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16084945-?" "00101866" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101867" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101868" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00101869" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101870" "" "" "" "1" "" "00006" "{PMID:Hsueh 2006:16517285}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16517285-?" "00101871" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101872" "" "" "" "1" "" "00006" "{PMID:D\'Amati 2005:16084945}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16084945-?" "00101873" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00101874" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818210}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16818210-?" "00101875" "" "" "" "1" "" "00006" "{PMID:Hsueh 2006:16517285}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16517285-?" "00101876" "" "" "" "1" "" "00006" "{PMID:Tiso 2001:11159936}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11159936-?" "00101877" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101878" "" "" "" "1" "" "00006" "{PMID:Haugaa 2010 :20106799}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "20106799-?" "00101879" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818210}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16818210-?" "00101880" "" "" "" "1" "" "00006" "{PMID:Davis 2006:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101881" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101882" "" "" "" "1" "" "00006" "{PMID:Jones 2010:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101883" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101884" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101885" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101886" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101887" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101888" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101889" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101890" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00101891" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101892" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101893" "" "" "" "1" "" "00006" "{PMID:Creigthon 2006:16436635}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16436635-?" "00101894" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00101895" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101896" "" "" "" "1" "" "00006" "{PMID:Bauce 2002:12106942}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12106942-?" "00101897" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00101898" "" "" "" "1" "" "00006" "{PMID:Nishio 2006:17062961}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "17062961-?" "00101899" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101900" "" "" "" "1" "" "00006" "{PMID:Tiso 2001:11159936}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11159936-?" "00101901" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101902" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101903" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101904" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19781797}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19781797-?" "00101905" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101906" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101907" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101908" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19781797}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19781797-?" "00101909" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101910" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101911" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101912" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101913" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101914" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101915" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101916" "" "" "" "1" "" "00006" "{PMID:Milting 2006:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101917" "" "" "" "1" "" "00006" "{PMID:Milting 2006:16769042}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16769042-?" "00101918" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19781797}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19781797-?" "00101919" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101920" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101921" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101922" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101923" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101924" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19781797}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19781797-?" "00101925" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101926" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101927" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101928" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101929" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101930" "" "" "" "1" "" "00006" "{PMID:Priori 2001:11208676}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11208676-?" "00101931" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00101932" "" "" "" "1" "" "00006" "{PMID:Priori 2001:11208676}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11208676-?" "00101933" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101934" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101935" "" "" "" "1" "" "00006" "{PMID:Tester 2007:17556193}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "17556193-?" "00101936" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101937" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101938" "" "" "" "1" "" "00006" "{PMID:Laitinen 2003:14571276}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "14571276-?" "00101939" "" "" "" "1" "" "00006" "{PMID:Berge 2008:18752142}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18752142-?" "00101940" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101941" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00101942" "" "" "" "1" "" "00006" "{PMID:Nishio 2008:17062961}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "17062961-?" "00101943" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101944" "" "" "" "1" "" "00006" "{PMID:Laitinen2001:11157710}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11157710-?" "00101945" "" "" "" "1" "" "00006" "{PMID:Creigthon 2006:16436635}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16436635-?" "00101946" "" "" "" "1" "" "00006" "{PMID:Haugaa 2010 :20106799}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "20106799-?" "00101947" "" "" "" "1" "" "00006" "{PMID:Aizawa et a 2006:16823244}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16823244-?" "00101948" "" "" "" "1" "" "00006" "{PMID:Tiso 2001:11159936}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11159936-?" "00101949" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101950" "" "" "" "1" "" "00006" "{PMID:Bagattin 2004:15131021}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15131021-?" "00101951" "" "" "" "1" "" "00006" "{PMID:Tester Circulation 2005:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101952" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101953" "" "" "" "1" "" "00006" "{PMID:Bauce 2002:12106942}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12106942-?" "00101954" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101955" "" "" "" "1" "" "00006" "{PMID:Aizawa 2005:15749201}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15749201-?" "00101956" "" "" "" "1" "" "00006" "{PMID:Creigthon 2006:16436635}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16436635-?" "00101957" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00101958" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101959" "" "" "" "1" "" "00006" "{PMID:Beckmann 2008:18463390}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18463390-?" "00101960" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101961" "" "" "" "1" "" "00006" "{PMID:Priori 2001:11208676}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11208676-?" "00101962" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101963" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15887426}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15887426-?" "00101964" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101965" "" "" "" "1" "" "00006" "{PMID:Tiso 2001:11159936}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11159936-?" "00101966" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101967" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101968" "" "" "" "1" "" "00006" "{PMID:Hasdemir 2004:15175074}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15175074-?" "00101969" "" "" "" "1" "" "00006" "{PMID:Tiso 2001:11159936}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11159936-?" "00101970" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19216760}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19216760-?" "00101971" "" "" "" "1" "" "00006" "{PMID:Marjamaa 2009:19781797}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19781797-?" "00101972" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00101973" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00101974" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101975" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101976" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101977" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101978" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818210}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16818210-?" "00101979" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00101980" "" "" "" "1" "" "00006" "{PMID:Davis 2006:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101981" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101982" "" "" "" "1" "" "00006" "{PMID:Tester Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101983" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101984" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101985" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101986" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101987" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101988" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101989" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101990" "" "" "" "1" "" "00006" "{PMID:Tester Circulation 2005:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101991" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101992" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00101993" "" "" "" "1" "" "00006" "{PMID:Priori 2001:11208676}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11208676-?" "00101994" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101995" "" "" "" "1" "" "00006" "{PMID:Hasdemir C 2008:18849218}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18849218-?" "00101996" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101997" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00101998" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00101999" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102000" "" "" "" "1" "" "00006" "{PMID:Berge 2008:18752142}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18752142-?" "00102001" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102002" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00102003" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102004" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102005" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00102006" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102007" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102008" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102009" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818210}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16818210-?" "00102010" "" "" "" "1" "" "00006" "{PMID:Laitinen2001:11157710}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11157710-?" "00102011" "" "" "" "1" "" "00006" "{PMID:Tester Circulation 2005:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102012" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102013" "" "" "" "1" "" "00006" "{PMID:Callis Heart Rhythm 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102014" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102015" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102016" "" "" "" "1" "" "00006" "{PMID:Berge 2008:18752142}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18752142-?" "00102017" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102018" "" "" "" "1" "" "00006" "{PMID:Priori 2001:11208676}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11208676-?" "00102019" "" "" "" "1" "" "00006" "{PMID:Tester 2004:15544015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15544015-?" "00102020" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00102021" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102022" "" "" "" "1" "" "00006" "{PMID:Bagattin 2004:15131021}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15131021-?" "00102023" "" "" "" "1" "" "00006" "{PMID:Laitinen2001:11157710}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11157710-?" "00102024" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102025" "" "" "" "1" "" "00006" "{PMID:Beckmann 2008:18463390}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18463390-?" "00102026" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102027" "" "" "" "1" "" "00006" "{PMID:Tester 2007:17556193}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "17556193-?" "00102028" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102029" "" "" "" "1" "" "00006" "{PMID:Laitinen2001:11157710}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "11157710-?" "00102030" "" "" "" "1" "" "00006" "{PMID:Bagattin 2004:15131021}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15131021-?" "00102031" "" "" "" "1" "" "00006" "{PMID:Berge 2008:18752142}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "18752142-?" "00102032" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102033" "" "" "" "1" "" "00006" "{PMID:Beery 2009:19398417}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19398417-?" "00102034" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102035" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102036" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102037" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00102038" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102039" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00102040" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102041" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00102042" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00102043" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102044" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102045" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102046" "" "" "" "1" "" "00006" "{PMID:Haugaa 2010 :20106799}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "20106799-?" "00102047" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15466642-?" "00102048" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00102049" "" "" "" "1" "" "00006" "{PMID:Aizawa et a 2006:16823244}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16823244-?" "00102050" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00102051" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00102052" "" "" "" "1" "" "00006" "{PMID:Bagattin 2004:15131021}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15131021-?" "00102053" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00102054" "" "" "" "1" "" "00006" "{PMID:Laitinen 2003:14571276}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "14571276-?" "00102055" "" "" "" "1" "" "00006" "{PMID:Postma 2005:16272262}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16272262-?" "00102056" "" "" "" "1" "" "00006" "{PMID:Medeiros-Domingo 2009:19926015}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "19926015-?" "00102057" "" "" "" "1" "" "00006" "{PMID:Johnson 2010:20395638}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "20395638-?" "00102058" "" "" "" "1" "" "00006" "{PMID:Priori 2002:12093772}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "12093772-?" "00102059" "" "" "" "1" "" "00006" "{PMID:Laitinen 2003:14571276}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "14571276-?" "00102060" "" "" "" "1" "" "00006" "{PMID:Allouis 2005:15721128}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "15721128-?" "00102061" "" "" "" "1" "" "00006" "{PMID:Tester 2005:16188589}" "{FSM:hRYR2mut};" "" "" "" "" "0" "" "" "" "16188589-?" "00103742" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Switzerland" "07y" "0" "" "" "Europe" "SUDS006" "00103744" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "27y" "0" "" "" "Europe" "SUDS008" "00103750" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "F" "" "Switzerland" "11y" "0" "" "" "Europe" "SUDS058" "00128362" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "4" "00128373" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "51" "00128396" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "94" "00128415" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "139" "00128419" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "148" "00128421" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "150" "00128425" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "154" "00128430" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "165" "00128441" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "191" "00128444" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "198" "00128465" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "245" "00128485" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "280" "00128489" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "287" "00180905" "" "" "" "1" "" "01601" "" "" "F" "?" "Denmark" "34y" "0" "" "" "" "13" "00181170" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "68944" "00208915" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00263123" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269601" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269602" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269603" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269604" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271393" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271394" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271395" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271396" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271397" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271401" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271402" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271403" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271404" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271405" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271406" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271407" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271408" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271409" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271410" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271411" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00286317" "" "" "" "2" "" "03571" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case solved" "" "" "" "" "0" "" "" "" "FamFPat145" "00289772" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289773" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289774" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289775" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289776" "" "" "" "239" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289777" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289778" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289779" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289780" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289782" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289783" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289784" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289785" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295112" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302767" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "341.162" "00302917" "" "" "" "1" "" "01164" "" "patient deceased sudden death, post-mortem analysis" "?" "?" "Germany" "" "0" "" "" "" "155452" "00304190" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304191" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317879" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317880" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317881" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317882" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317883" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317884" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00329094" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "Germany" "00y03m" "0" "" "" "" "155450" "00334599" "" "" "" "10" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334600" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00438583" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0032" "00446770" "" "" "" "3" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 3 affected; case solved" "" "" "" "" "0" "" "" "" "FamAPat44" "00446777" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat52" "00446801" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat85" "00446826" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat116" "00446829" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat123" "00446887" "" "" "00286317" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamFPat65" "00446889" "" "" "00446770" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamAPat71" "00446890" "" "" "00446770" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamAPat8" "00453129" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam78Pat116" "00453138" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam226Pat245" "00453141" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam265Pat283" "00453154" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam391Pat425" "00453157" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam449Pat481" "00453246" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam39Pat72" "00453247" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam338Pat375" "00453248" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam26Pat46" "00453249" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam218Pat237" "00453250" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam347Pat383" "00453251" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam274Pat295" "00453252" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam329Pat362" "00453253" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam345Pat381" "00453254" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam132Pat151" "00469677" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "secondary finding analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "TabS2-var79" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 311 "{{individualid}}" "{{diseaseid}}" "00016142" "00351" "00016146" "00351" "00028981" "04170" "00028993" "04170" "00043779" "02087" "00043781" "02087" "00043785" "02087" "00058463" "00365" "00064101" "00351" "00064105" "00351" "00064127" "00351" "00064142" "00351" "00064153" "00351" "00064154" "00351" "00064155" "00351" "00064196" "00351" "00064200" "00351" "00064206" "00351" "00064226" "00351" "00064702" "05166" "00064704" "05166" "00064713" "05166" "00064715" "05166" "00065151" "02087" "00101861" "02523" "00101862" "02523" "00101863" "02523" "00101864" "02523" "00101865" "02523" "00101866" 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"00102024" "00198" "00102025" "02523" "00102026" "00198" "00102027" "02523" "00102028" "02523" "00102029" "02523" "00102030" "02523" "00102031" "02523" "00102032" "02523" "00102033" "02523" "00102034" "02523" "00102035" "02523" "00102036" "00198" "00102037" "02523" "00102038" "00198" "00102039" "02523" "00102040" "02523" "00102041" "02523" "00102042" "02523" "00102043" "02523" "00102044" "02523" "00102045" "02523" "00102046" "02523" "00102047" "00198" "00102048" "00198" "00102049" "00198" "00102050" "00198" "00102051" "02523" "00102052" "02523" "00102053" "02523" "00102054" "02523" "00102055" "02523" "00102056" "02523" "00102057" "02523" "00102058" "02523" "00102059" "02523" "00102060" "02523" "00102061" "02523" "00103742" "05166" "00103744" "05166" "00103750" "05166" "00128362" "00198" "00128373" "00198" "00128396" "00198" "00128415" "00198" "00128419" "00198" "00128421" "00198" "00128425" "00198" "00128430" "00198" "00128441" "00198" "00128444" "00198" "00128465" "00198" "00128485" "00198" "00128489" "00198" "00180905" "05166" "00181170" "00344" "00271393" "00198" "00271394" "00198" "00271395" "00198" "00271396" "00198" "00271397" "00198" "00271401" "00198" "00271402" "00198" "00271403" "00198" "00271404" "00198" "00271405" "00198" "00271406" "00198" "00271407" "00198" "00271408" "00198" "00271409" "00198" "00271410" "00198" "00271411" "00198" "00286317" "04172" "00289772" "00198" "00289773" "00198" "00289774" "00198" "00289775" "00198" "00289776" "00198" "00289777" "00198" "00289778" "00198" "00289779" "00198" "00289780" "00198" "00289782" "00198" "00289783" "00198" "00289784" "00198" "00289785" "00198" "00295112" "00198" "00302767" "00139" "00302917" "00946" "00304190" "00198" "00304191" "00198" "00317879" "04172" "00317880" "04172" "00317881" "04172" "00317882" "04172" "00317883" "04172" "00317884" "04172" "00329094" "02087" "00334599" "04214" "00334600" "04214" "00438583" "06906" "00446770" "04173" "00446777" "04173" "00446801" "04173" "00446826" "04173" "00446829" "04173" "00446887" "04173" "00446889" "04173" "00446890" "04173" "00453129" "04172" "00453138" "04172" "00453141" "04172" "00453154" "04172" "00453157" "04172" "00453246" "04172" "00453247" "04172" "00453248" "04172" "00453249" "04172" "00453250" "04172" "00453251" "04172" "00453252" "04172" "00453253" "04172" "00453254" "04172" "00469677" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00344, 00351, 00365, 00946, 02087, 02334, 02523, 04170, 04172, 04173, 04214, 05166, 06906 ## Count = 282 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014927" "00351" "00016142" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000014931" "00351" "00016146" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000045094" "00365" "00058463" "00006" "Familial" "" "see paper" "2m" "29y" "" "" "" "" "" "" "" "" "" "0000050617" "00351" "00064101" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050621" "00351" "00064105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050643" "00351" "00064127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050658" "00351" "00064142" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050669" "00351" "00064153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050670" "00351" "00064154" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050671" "00351" "00064155" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050712" "00351" "00064196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050716" "00351" "00064200" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050722" "00351" "00064206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050742" "00351" "00064226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050825" "02087" "00043785" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050826" "02087" "00043779" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050828" "02087" "00043781" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000051256" "02087" "00065151" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000053230" "05166" "00064702" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053232" "05166" "00064704" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053241" "05166" "00064713" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053243" "05166" "00064715" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000080065" "02523" "00101861" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080066" "02523" "00101862" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080067" "02523" "00101863" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080068" "02523" "00101864" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080069" "02523" "00101865" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080070" "02523" "00101866" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080071" "02523" "00101867" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080072" "02523" "00101868" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080073" "02523" "00101869" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080074" "02523" "00101870" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080075" "02523" "00101871" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080076" "00198" "00101872" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia and Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000080077" "00198" "00101873" "00006" "Unknown" "" "SCD associated with drowning" "" "" "" "" "" "" "" "" "" "" "" "0000080078" "00198" "00101874" "00006" "Unknown" "" "SCD associated with drowning" "" "" "" "" "" "" "" "" "" "" "" "0000080079" "02523" "00101875" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080080" "00198" "00101876" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080081" "00198" "00101877" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080082" "00198" "00101878" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080083" "02523" "00101879" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080084" "02523" "00101880" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080085" "02523" "00101881" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080086" "02523" "00101882" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080087" "02523" "00101883" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080088" "02523" "00101884" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080089" "02523" "00101885" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080090" "02523" "00101887" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080091" "02523" "00101888" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080092" "02523" "00101889" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080093" "00198" "00101890" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080094" "00198" "00101891" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080095" "02523" "00101892" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080096" "00198" "00101893" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080097" "00198" "00101894" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080098" "00198" "00101895" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080099" "02334" "00101896" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080100" "02334" "00101897" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080101" "02334" "00101898" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080102" "02523" "00101899" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080103" "02334" "00101900" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080104" "00198" "00101901" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080105" "02523" "00101903" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080106" "02523" "00101904" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080107" "02523" "00101905" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080108" "02523" "00101906" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080109" "02523" "00101907" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080110" "02523" "00101908" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080111" "02523" "00101909" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080112" "02523" "00101911" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080113" "02523" "00101912" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080114" "02523" "00101913" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080115" "02523" "00101914" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080116" "02523" "00101915" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080117" "00198" "00101916" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Cardiomiopathy, Found in ARVC patients as compound heterozygosity with G1882S" "" "" "" "" "" "" "" "" "" "" "" "0000080118" "00198" "00101917" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Cardiomiopathy, Found in ARVC patients as compound heterozygosity with G1882S" "" "" "" "" "" "" "" "" "" "" "" "0000080119" "00198" "00101918" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation (age 41 years)" "" "" "" "" "" "" "" "" "" "" "" "0000080120" "02523" "00101919" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080121" "02523" "00101920" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080122" "02523" "00101921" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080123" "02523" "00101922" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080124" "02523" "00101923" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080125" "02523" "00101924" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080126" "02523" "00101925" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080127" "02523" "00101927" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080128" "02523" "00101929" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080129" "00198" "00101930" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000080130" "00198" "00101931" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000080131" "02523" "00101932" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080132" "02523" "00101933" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080133" "02523" "00101934" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080134" "02523" "00101935" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080135" "02523" "00101936" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080136" "02523" "00101937" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080137" "02523" "00101938" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080138" "02523" "00101939" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080139" "02523" "00101940" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080140" "02523" "00101941" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080141" "02523" "00101942" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080142" "02523" "00101943" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080143" "02523" "00101944" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080144" "00198" "00101945" "00006" "Unknown" "" "SCD" "" "" "" "" "" "" "" "" "" "" "" "0000080145" "02523" "00101946" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080146" "00198" "00101947" "00006" "Unknown" "" "SCD, Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080147" "02334" "00101948" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080148" "00198" "00101949" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080149" "02523" "00101950" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080150" "02334" "00101953" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080151" "02523" "00101954" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080152" "02523" "00101955" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080153" "00198" "00101956" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080154" "00198" "00101957" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080155" "00198" "00101958" "00006" "Unknown" "" "SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080156" "02523" "00101959" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080157" "02523" "00101960" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080158" "02523" "00101961" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080159" "02523" "00101962" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080160" "02523" "00101963" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080161" "02334" "00101965" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080162" "02523" "00101966" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080163" "02523" "00101967" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080164" "02523" "00101968" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080165" "02334" "00101969" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia type 2" "" "" "" "" "" "" "" "" "" "" "" "0000080166" "00198" "00101971" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000080167" "02523" "00101972" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080168" "00198" "00101973" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080169" "02523" "00101974" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080170" "02523" "00101975" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080171" "02523" "00101976" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080172" "02523" "00101977" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080173" "02523" "00101978" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080174" "02523" "00101979" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080175" "02523" "00101980" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080176" "02523" "00101981" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080177" "02523" "00101982" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080178" "02523" "00101983" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080179" "02523" "00101984" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080180" "02523" "00101985" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080181" "02523" "00101986" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080182" "02523" "00101987" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080183" "02523" "00101988" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080184" "02523" "00101989" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080185" "00198" "00101992" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080186" "02523" "00101993" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080187" "02523" "00101994" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080188" "02523" "00101995" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080189" "02523" "00101996" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080190" "02523" "00101997" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080191" "02523" "00101998" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080192" "00198" "00101999" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080193" "02523" "00102000" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080194" "02523" "00102001" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080195" "00198" "00102002" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080196" "02523" "00102003" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080197" "02523" "00102004" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080198" "00198" "00102005" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080199" "02523" "00102006" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080200" "02523" "00102007" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080201" "02523" "00102008" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080202" "00198" "00102009" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000080203" "02523" "00102010" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080204" "02523" "00102016" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080205" "02523" "00102017" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080206" "02523" "00102018" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080207" "02523" "00102019" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080208" "00198" "00102020" "00006" "Unknown" "" "Near drowning and swimming-triggered syncope, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080209" "00198" "00102021" "00006" "Unknown" "" "Near drowning and swimming-triggered syncope, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080210" "02523" "00102022" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080211" "00198" "00102023" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia, Syncope of Unknown origin, Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080212" "00198" "00102024" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia, Syncope of Unknown origin, Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080213" "02523" "00102025" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080214" "00198" "00102026" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080215" "02523" "00102027" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080216" "02523" "00102028" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080217" "02523" "00102029" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080218" "02523" "00102030" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080219" "02523" "00102031" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080220" "02523" "00102032" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080221" "02523" "00102033" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080222" "02523" "00102034" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080223" "02523" "00102035" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080224" "00198" "00102036" "00006" "Unknown" "" "Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080225" "02523" "00102037" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080226" "00198" "00102038" "00006" "Unknown" "" "Near drowning and swimming-triggered syncope, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080227" "02523" "00102039" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080228" "02523" "00102040" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080229" "02523" "00102041" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080230" "02523" "00102042" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080231" "02523" "00102043" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080232" "02523" "00102044" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080233" "02523" "00102045" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080234" "02523" "00102046" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080235" "00198" "00102047" "00006" "Unknown" "" "Near drowning and swimming-triggered syncope, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080236" "00198" "00102048" "00006" "Unknown" "" "Near drowning and swimming-triggered syncope, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined" "" "" "" "" "" "" "" "" "" "" "" "0000080237" "00198" "00102049" "00006" "Unknown" "" "SCD, Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080238" "00198" "00102050" "00006" "Unknown" "" "Idiopathic Ventricular Fibrillation induced by emotion or exercise" "" "" "" "" "" "" "" "" "" "" "" "0000080239" "02523" "00102051" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080240" "02523" "00102052" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080241" "02523" "00102053" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080242" "02523" "00102054" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080243" "02523" "00102055" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080244" "02523" "00102056" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080245" "02523" "00102057" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080246" "02523" "00102058" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080247" "02523" "00102059" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080248" "02523" "00102060" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000080249" "02523" "00102061" "00006" "Unknown" "" "Catecholaminergic Ventricular Tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000081679" "05166" "00103742" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000081686" "05166" "00103750" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000100578" "00198" "00128362" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100590" "00198" "00128373" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100612" "00198" "00128396" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100633" "00198" "00128415" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100638" "00198" "00128419" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100640" "00198" "00128421" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100644" "00198" "00128425" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100649" "00198" "00128430" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100660" "00198" "00128441" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100663" "00198" "00128444" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100687" "00198" "00128465" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100708" "00198" "00128485" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100713" "00198" "00128489" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000144007" "00344" "00181170" "02552" "Isolated (sporadic)" "" "" "00y02m" "" "" "" "" "" "" "" "" "" "" "0000157523" "00198" "00208915" "01164" "Unknown" "" "HP:0002104 (Apnea); HP:0002804 (Arthrogryposis multiplex congenita); HP:0000035 (Abnormality of the testis); HP:0000486 (Strabismus); HP:0001655 (Patent foramen ovale); HP:0000278 (Retrognathia); HP:0011025 (Abnormality of cardiovascular system physiology); HP:0001252 (Muscular hypotonia); HP:0012758 (Neurodevelopmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000201562" "00198" "00263123" "01164" "Unknown" "" "Abnormal eye morphology (HP:0012372); Abnormality of nervous system physiology (HP:0012638); Migraine (HP:0002076); Iris coloboma (HP:0000612)" "" "" "" "" "" "" "" "" "" "" "" "0000207405" "00198" "00269601" "01164" "Unknown" "" "High palate (HP:0000218); Myopia (HP:0000545)" "" "" "" "" "" "" "" "" "" "" "" "0000207406" "00198" "00269602" "01164" "Unknown" "" "Hypertrophic cardiomyopathy (HP:0001639); Mildly elevated creatine phosphokinase (HP:0008180)" "" "" "" "" "" "" "" "" "" "" "" "0000207407" "00198" "00269603" "01164" "Unknown" "" "Stroke (HP:0001297); Paresthesia (HP:0003401)" "" "" "" "" "" "" "" "" "" "" "" "0000207408" "00198" "00269604" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000208001" "00198" "00271393" "01164" "Unknown" "" "Type I diabetes mellitus (HP:0100651); Polyneuropathy (HP:0001271); Elevated serum creatine phosphokinase (HP:0003236); EMG: myopathic abnormalities (HP:0003458); Exercise-induced myalgia (HP:0003738)" "" "" "" "" "" "" "" "" "" "" "" "0000208002" "00198" "00271394" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000208003" "00198" "00271395" "01164" "Unknown" "" "Chorea (HP:0002072)" "" "" "" "" "" "" "" "" "" "" "" "0000208004" "00198" "00271396" "01164" "Unknown" "" "Leukoencephalopathy (HP:0002352)" "" "" "" "" "" "" "" "" "" "" "" "0000208005" "00198" "00271397" "01164" "Unknown" "" "Mixed demyelinating and axonal polyneuropathy (HP:0007327)" "" "" "" "" "" "" "" "" "" "" "" "0000208009" "00198" "00271401" "01164" "Unknown" "" "Episodic vomiting (HP:0002572); Delayed speech and language development (HP:0000750); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "0000208010" "00198" "00271402" "01164" "Unknown" "" "Epileptiform EEG discharges (HP:0011182); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000208011" "00198" "00271403" "01164" "Unknown" "" "High palate (HP:0000218); Myopia (HP:0000545)" "" "" "" "" "" "" "" "" "" "" "" "0000208012" "00198" "00271404" "01164" "Unknown" "" "Macrodactyly (HP:0004099); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "0000208013" "00198" "00271405" "01164" "Unknown" "" "Hypertrophic cardiomyopathy (HP:0001639); Mildly elevated creatine phosphokinase (HP:0008180)" "" "" "" "" "" "" "" "" "" "" "" "0000208014" "00198" "00271406" "01164" "Unknown" "" "Muscle fiber atrophy (HP:0100295); Respiratory insufficiency (HP:0002093); Myopathy (HP:0003198); Peripheral neuropathy (HP:0009830)" "" "" "" "" "" "" "" "" "" "" "" "0000208015" "00198" "00271407" "01164" "Unknown" "" "Dissecting aortic aneurysm (HP:0002622)" "" "" "" "" "" "" "" "" "" "" "" "0000208016" "00198" "00271408" "01164" "Unknown" "" "Motor delay (HP:0001270); Abnormality of the calf musculature (HP:0001430); Elevated serum creatine phosphokinase (HP:0003236); Myalgia (HP:0003326); EMG: myopathic abnormalities (HP:0003458); Toe walking (HP:0040083)" "" "" "" "" "" "" "" "" "" "" "" "0000208017" "00198" "00271409" "01164" "Unknown" "" "Hypertrophic cardiomyopathy (HP:0001639)" "" "" "" "" "" "" "" "" "" "" "" "0000208018" "00198" "00271410" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Upper motor neuron dysfunction (HP:0002493)" "" "" "" "" "" "" "" "" "" "" "" "0000208019" "00198" "00271411" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Vitamin D deficiency (HP:0100512); Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of metabolism/homeostasis (HP:0001939); Abnormality of lipid metabolism (HP:0003119); Hypercholesterolemia (HP:0003124); Progressive gait ataxia (HP:0007240); Hypertension (HP:0000822)" "" "" "" "" "" "" "" "" "" "" "" "0000220174" "04172" "00286317" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-compaction cardiomyopathy" "" "0000229849" "00139" "00302767" "00006" "Isolated (sporadic)" "9y" "moderate intellectual disability; speech verbal- 7y-2-3 word sentences; walk-3y; epilepsy; no autistic features; acquired microcephaly; no macrocephaly; MRI brain normal; no neurological abnormalities; no congenitial malformations; cardiac arrhythmia; unilateral cryptorchidism; atrial flutter, cardiac pacemaker, small stature" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229999" "00946" "00302917" "01164" "Unknown" "" "Sudden cardiac death, Sudden death, Arrhythmia; patient not affected, variant reported as an actionable incidental finding" "" "" "" "" "" "" "" "" "" "" "" "0000230000" "00946" "00302917" "01164" "Unknown" "" "patient deceased sudden death, post-mortem analysis" "" "" "" "" "" "" "" "" "" "" "" "0000241625" "04172" "00317879" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241626" "04172" "00317880" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241627" "04172" "00317881" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241628" "04172" "00317882" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241629" "04172" "00317883" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241630" "04172" "00317884" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000247291" "02087" "00329094" "01164" "Unknown" "" "sids" "" "" "" "" "" "" "" "" "" "" "" "0000322143" "05166" "00103742" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000322144" "05166" "00103744" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000328486" "06906" "00438583" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000335974" "04173" "00446770" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335981" "04173" "00446777" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336005" "04173" "00446801" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336030" "04173" "00446826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336033" "04173" "00446829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336091" "04173" "00446887" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336093" "04173" "00446889" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336094" "04173" "00446890" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341775" "04172" "00453129" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341784" "04172" "00453138" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341787" "04172" "00453141" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341800" "04172" "00453154" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341803" "04172" "00453157" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341892" "04172" "00453246" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341893" "04172" "00453247" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341894" "04172" "00453248" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341895" "04172" "00453249" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341896" "04172" "00453250" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341897" "04172" "00453251" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341898" "04172" "00453252" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341899" "04172" "00453253" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341900" "04172" "00453254" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000354829" "00198" "00469677" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "secondary finding" "" ## Screenings ## Do not remove or alter this header ## ## Count = 317 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016264" "00016142" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000016268" "00016146" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000029022" "00028981" "1" "00066" "00066" "2015-01-12 16:11:34" "" "" "SEQ" "DNA" "" "" "0000029034" "00028993" "1" "00066" 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"0000102452" "00102005" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102453" "00102006" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102454" "00102007" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102455" "00102008" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102456" "00102009" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102457" "00102010" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102458" "00102011" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102459" "00102012" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102460" "00102013" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102461" "00102014" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102462" "00102015" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102463" "00102016" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102464" "00102017" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102465" "00102018" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102466" "00102019" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102467" "00102020" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102468" "00102021" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102469" "00102022" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102470" "00102023" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102471" "00102024" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102472" "00102025" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102473" "00102026" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102474" "00102027" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102475" "00102028" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102476" "00102029" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102477" "00102030" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102478" "00102031" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102479" "00102032" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102480" "00102033" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102481" "00102034" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102482" "00102035" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102483" "00102036" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102484" "00102037" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102485" "00102038" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102486" "00102039" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102487" "00102040" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102488" "00102041" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102489" "00102042" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102490" "00102043" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102491" "00102044" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102492" "00102045" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102493" "00102046" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102494" "00102047" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102495" "00102048" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102496" "00102049" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102497" "00102050" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102498" "00102051" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102499" "00102052" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102500" "00102053" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102501" "00102054" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102502" "00102055" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102503" "00102056" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102504" "00102057" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102505" "00102058" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102506" "00102059" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102507" "00102060" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000102508" "00102061" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000104198" "00103742" "1" "01602" "01602" "2017-04-18 11:45:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000104199" "00103744" "1" "01602" "01602" "2017-04-18 11:52:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000104205" "00103750" "1" "01602" "01602" "2017-04-18 12:02:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000128829" "00128362" "1" "02244" "02244" "2017-09-15 14:13:59" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000128840" "00128373" "1" "02244" "02244" "2017-09-15 14:42:55" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129234" "00128396" "1" "02244" "02244" "2017-09-15 15:34:42" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129252" "00128415" "1" "02244" "02244" "2017-09-15 16:10:58" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129257" "00128419" "1" "02244" "02244" "2017-09-15 16:19:02" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129259" "00128421" "1" "02244" "02244" "2017-09-15 16:39:23" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129263" "00128425" "1" "02244" "02244" "2017-09-15 16:46:35" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129268" "00128430" "1" "02244" "02244" "2017-09-15 16:55:17" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129279" "00128441" "1" "02244" "02244" "2017-09-15 17:15:19" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129282" "00128444" "1" "02244" "02244" "2017-09-15 17:25:40" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129303" "00128465" "1" "02244" "02244" "2017-09-15 18:12:40" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129323" "00128485" "1" "02244" "02244" "2017-09-15 18:58:21" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129327" "00128489" "1" "02244" "02244" "2017-09-15 19:06:31" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000181841" "00180905" "1" "01601" "01601" "2018-09-10 13:34:39" "01601" "2018-09-10 14:15:42" "SEQ-NG-I" "DNA" "" "100 genes associated with cardiac diseases" "0000182128" "00181170" "1" "02552" "02552" "2018-10-02 14:42:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000209970" "00208915" "1" "01164" "01164" "2018-12-20 13:06:26" "" "" "SEQ-NG" "DNA" "" "" "0000264229" "00263123" "1" "01164" "01164" "2019-08-23 11:18:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000270757" "00269601" "1" "01164" "01164" "2019-12-03 10:07:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000270758" "00269602" "1" "01164" "01164" "2019-12-03 10:07:49" "" "" "SEQ-NG-S" "DNA" "" "" "0000270759" "00269603" "1" "01164" "01164" "2019-12-03 10:07:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000270760" "00269604" "1" "01164" "01164" "2019-12-03 10:07:52" "" "" "SEQ-NG-S" "DNA" "" "" "0000272544" "00271393" "1" "01164" "01164" "2019-12-19 11:55:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000272545" "00271394" "1" "01164" "01164" "2019-12-19 11:55:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000272546" "00271395" "1" "01164" "01164" "2019-12-19 11:55:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000272547" "00271396" "1" "01164" "01164" "2019-12-19 11:55:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000272548" "00271397" "1" "01164" "01164" "2019-12-19 11:55:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000272552" "00271401" "1" "01164" "01164" "2019-12-19 11:55:44" "" "" "SEQ-NG-S" "DNA" "" "" "0000272553" "00271402" "1" "01164" "01164" "2019-12-19 11:55:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000272554" "00271403" "1" "01164" "01164" "2019-12-19 11:55:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000272555" "00271404" "1" "01164" "01164" "2019-12-19 11:55:52" "" "" "SEQ-NG-S" "DNA" "" "" "0000272556" "00271405" "1" "01164" "01164" "2019-12-19 11:55:55" "" "" "SEQ-NG-S" "DNA" "" "" "0000272557" "00271406" "1" "01164" "01164" "2019-12-19 11:55:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000272558" "00271407" "1" "01164" "01164" "2019-12-19 11:55:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000272559" "00271408" "1" "01164" "01164" "2019-12-19 11:56:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000272560" "00271409" "1" "01164" "01164" "2019-12-19 11:56:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000272561" "00271410" "1" "01164" "01164" "2019-12-19 11:56:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000272562" "00271411" "1" "01164" "01164" "2019-12-19 11:56:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000287481" "00286317" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000290940" "00289772" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290941" "00289773" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290942" "00289774" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290943" "00289775" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290944" "00289776" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290945" "00289777" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290946" "00289778" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290947" "00289779" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290948" "00289780" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290950" "00289782" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290951" "00289783" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290952" "00289784" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290953" "00289785" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296280" "00295112" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303893" "00302767" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304043" "00302917" "1" "01164" "01164" "2020-06-04 11:10:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000305319" "00304190" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305320" "00304191" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319061" "00317879" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319062" "00317880" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319063" "00317881" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319064" "00317882" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319065" "00317883" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319066" "00317884" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000330311" "00329094" "1" "01164" "01164" "2021-02-03 16:32:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000335828" "00334599" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335829" "00334600" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000440065" "00438583" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000448345" "00446770" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448352" "00446777" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448376" "00446801" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448401" "00446826" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448404" "00446829" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448462" "00446887" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448464" "00446889" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448465" "00446890" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454740" "00453129" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454749" "00453138" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454752" "00453141" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454765" "00453154" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454768" "00453157" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454857" "00453246" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454858" "00453247" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454859" "00453248" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454860" "00453249" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454861" "00453250" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454862" "00453251" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454863" "00453252" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454864" "00453253" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454865" "00453254" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000471345" "00469677" "1" "00006" "00006" "2025-11-18 13:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 237 "{{screeningid}}" "{{geneid}}" "0000016264" "ACTN2" "0000016264" "DSC2" "0000016264" "LDB3" "0000016264" "MYH7" "0000016264" "MYPN" "0000016264" "RYR2" "0000016264" "TTN" "0000016268" "JUP" "0000016268" "MYBPC3" "0000016268" "RYR2" "0000016268" "TTN" "0000058426" "DMD" "0000058426" "RYR2" "0000058426" "TTN" "0000064234" "TTN" "0000064238" "TTN" "0000064260" "TTN" "0000064275" "TTN" "0000064286" "TTN" "0000064287" "TTN" "0000064288" "TTN" "0000064329" "TTN" "0000064333" "TTN" "0000064339" "TTN" "0000064359" "TTN" "0000102308" "RYR2" "0000102309" "RYR2" "0000102310" "RYR2" "0000102311" "RYR2" "0000102312" "RYR2" "0000102313" "RYR2" "0000102314" "RYR2" "0000102315" "RYR2" "0000102316" "RYR2" "0000102317" "RYR2" "0000102318" "RYR2" "0000102319" "RYR2" "0000102320" "RYR2" "0000102321" "RYR2" "0000102322" "RYR2" "0000102323" "RYR2" "0000102324" "RYR2" "0000102325" "RYR2" "0000102326" "RYR2" "0000102327" "RYR2" "0000102328" "RYR2" "0000102329" "RYR2" "0000102330" "RYR2" "0000102331" "RYR2" "0000102332" "RYR2" "0000102333" "RYR2" "0000102334" "RYR2" "0000102335" "RYR2" "0000102336" "RYR2" "0000102337" "RYR2" "0000102338" "RYR2" "0000102339" "RYR2" "0000102340" "RYR2" "0000102341" "RYR2" "0000102342" "RYR2" "0000102343" "RYR2" "0000102344" "RYR2" "0000102345" "RYR2" "0000102346" "RYR2" "0000102347" "RYR2" "0000102348" "RYR2" "0000102349" "RYR2" "0000102350" "RYR2" "0000102351" "RYR2" "0000102352" "RYR2" "0000102353" "RYR2" "0000102354" "RYR2" "0000102355" "RYR2" "0000102356" "RYR2" "0000102357" "RYR2" "0000102358" "RYR2" "0000102359" "RYR2" "0000102360" "RYR2" "0000102361" "RYR2" "0000102362" "RYR2" "0000102363" "RYR2" "0000102364" "RYR2" "0000102365" "RYR2" "0000102366" "RYR2" "0000102367" "RYR2" "0000102368" "RYR2" "0000102369" "RYR2" "0000102370" "RYR2" "0000102371" "RYR2" "0000102372" "RYR2" "0000102373" "RYR2" "0000102374" "RYR2" "0000102375" "RYR2" "0000102376" "RYR2" "0000102377" "RYR2" "0000102378" "RYR2" "0000102379" "RYR2" "0000102380" "RYR2" "0000102381" "RYR2" "0000102382" "RYR2" "0000102383" "RYR2" "0000102384" "RYR2" "0000102385" "RYR2" "0000102386" "RYR2" "0000102387" "RYR2" "0000102388" "RYR2" "0000102389" "RYR2" "0000102390" "RYR2" "0000102391" "RYR2" "0000102392" "RYR2" "0000102393" "RYR2" "0000102394" "RYR2" "0000102395" "RYR2" "0000102396" "RYR2" "0000102397" "RYR2" "0000102398" "RYR2" "0000102399" "RYR2" "0000102400" "RYR2" "0000102401" "RYR2" "0000102402" "RYR2" "0000102403" "RYR2" "0000102404" "RYR2" "0000102405" "RYR2" "0000102406" "RYR2" "0000102407" "RYR2" "0000102408" "RYR2" "0000102409" "RYR2" "0000102410" "RYR2" "0000102411" "RYR2" "0000102412" "RYR2" "0000102413" "RYR2" "0000102414" "RYR2" "0000102415" "RYR2" "0000102416" "RYR2" "0000102417" "RYR2" "0000102418" "RYR2" "0000102419" "RYR2" "0000102420" "RYR2" "0000102421" "RYR2" "0000102422" "RYR2" "0000102423" "RYR2" "0000102424" "RYR2" "0000102425" "RYR2" "0000102426" "RYR2" "0000102427" "RYR2" "0000102428" "RYR2" "0000102429" "RYR2" "0000102430" "RYR2" "0000102431" "RYR2" "0000102432" "RYR2" "0000102433" "RYR2" "0000102434" "RYR2" "0000102435" "RYR2" "0000102436" "RYR2" "0000102437" "RYR2" "0000102438" "RYR2" "0000102439" "RYR2" "0000102440" "RYR2" "0000102441" "RYR2" "0000102442" "RYR2" "0000102443" "RYR2" "0000102444" "RYR2" "0000102445" "RYR2" "0000102446" "RYR2" "0000102447" "RYR2" "0000102448" "RYR2" "0000102449" "RYR2" "0000102450" "RYR2" "0000102451" "RYR2" "0000102452" "RYR2" "0000102453" "RYR2" "0000102454" "RYR2" "0000102455" "RYR2" "0000102456" "RYR2" "0000102457" "RYR2" "0000102458" "RYR2" "0000102459" "RYR2" "0000102460" "RYR2" "0000102461" "RYR2" "0000102462" "RYR2" "0000102463" "RYR2" "0000102464" "RYR2" "0000102465" "RYR2" "0000102466" "RYR2" "0000102467" "RYR2" "0000102468" "RYR2" "0000102469" "RYR2" "0000102470" "RYR2" "0000102471" "RYR2" "0000102472" "RYR2" "0000102473" "RYR2" "0000102474" "RYR2" "0000102475" "RYR2" "0000102476" "RYR2" "0000102477" "RYR2" "0000102478" "RYR2" "0000102479" "RYR2" "0000102480" "RYR2" "0000102481" "RYR2" "0000102482" "RYR2" "0000102483" "RYR2" "0000102484" "RYR2" "0000102485" "RYR2" "0000102486" "RYR2" "0000102487" "RYR2" "0000102488" "RYR2" "0000102489" "RYR2" "0000102490" "RYR2" "0000102491" "RYR2" "0000102492" "RYR2" "0000102493" "RYR2" "0000102494" "RYR2" "0000102495" "RYR2" "0000102496" "RYR2" "0000102497" "RYR2" "0000102498" "RYR2" "0000102499" "RYR2" "0000102500" "RYR2" "0000102501" "RYR2" "0000102502" "RYR2" "0000102503" "RYR2" "0000102504" "RYR2" "0000102505" "RYR2" "0000102506" "RYR2" "0000102507" "RYR2" "0000102508" "RYR2" "0000287481" "FLNC" "0000303893" "RYR2" "0000304043" "RYR2" "0000319061" "RYR2" "0000319062" "RYR2" "0000319063" "RYR2" "0000319064" "RYR2" "0000319065" "RYR2" "0000319066" "RYR2" "0000330311" "RYR2" "0000330311" "SCN8A" ## 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 = 1591 "{{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}}" "0000036031" "1" "55" "1" "237794858" "237794858" "subst" "0" "00668" "RYR2_000001" "g.237794858C>T" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.237631558C>T" "" "VUS" "" "0000036032" "1" "55" "1" "237821276" "237821276" "subst" "0.000608931" "00668" "RYR2_000002" "g.237821276T>C" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.237657976T>C" "" "VUS" "" "0000052362" "1" "50" "1" "237753297" "237753297" "subst" "0" "00066" "RYR2_000007" "g.237753297T>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "De novo" "yes" "" "0" "" "" "g.237589997T>C" "" "VUS" "" "0000052375" "0" "50" "1" "237777484" "237777484" "subst" "2.43776E-5" "00066" "RYR2_000005" "g.237777484C>T" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "" "0" "" "" "g.237614184C>T" "" "VUS" "" "0000071826" "0" "70" "1" "237802485" "237802485" "subst" "0.000142696" "01337" "RYR2_000004" "g.237802485G>A" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "?" "" "0" "" "" "g.237639185G>A" "" "likely pathogenic" "" "0000071829" "0" "70" "1" "237890403" "237890403" "subst" "0" "01337" "RYR2_000003" "g.237890403G>A" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "assumed de novo" "De novo" "?" "" "0" "" "" "g.237727103G>A" "" "likely pathogenic" "" "0000071835" "0" "70" "1" "237778042" "237778042" "subst" "0.000163319" "01337" "RYR2_000006" "g.237778042G>A" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "" "" "0" "" "" "g.237614742G>A" "" "likely pathogenic" "" "0000088999" "0" "50" "1" "237821276" "237821276" "subst" "0.000608931" "00006" "RYR2_000002" "g.237821276T>C" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Germline" "" "" "0" "" "" "g.237657976T>C" "" "VUS" "" "0000095311" "0" "50" "1" "237823350" "237823350" "subst" "0" "00006" "RYR2_000014" "g.237823350G>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.G8274T" "" "Germline" "" "" "0" "" "" "g.237660050G>T" "" "VUS" "" "0000095324" "0" "50" "1" "237711862" "237711862" "subst" "0.000450974" "00006" "RYR2_000013" "g.237711862G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.G3038A" "" "Germline" "" "" "0" "" "" "g.237548562G>A" "" "VUS" "" "0000095418" "0" "50" "1" "237777530" "237777530" "subst" "4.06316E-6" "00006" "RYR2_000018" "g.237777530G>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.G5102C" "" "Germline" "" "" "0" "" "" "g.237614230G>C" "" "VUS" "" "0000095470" "0" "50" "1" "237868518" "237868518" "subst" "0" "00006" "RYR2_000015" "g.237868518G>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.G9455T" "" "Germline" "" "" "0" "" "" "g.237705218G>T" "" "VUS" "" "0000095500" "0" "50" "1" "237659929" "237659929" "subst" "0" "00006" "RYR2_000016" "g.237659929C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.C2080T" "" "Germline" "" "" "0" "" "" "g.237496629C>T" "" "VUS" "" "0000095504" "0" "50" "1" "237787064" "237787064" "subst" "0" "00006" "RYR2_000019" "g.237787064G>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.5917-1G>C" "" "Germline" "" "" "0" "" "" "g.237623764G>C" "" "VUS" "" "0000095509" "0" "50" "1" "237660057" "237660057" "subst" "2.89881E-5" "00006" "RYR2_000017" "g.237660057G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.2203+5G>A" "" "Germline" "" "" "0" "" "" "g.237496757G>A" "" "VUS" "" "0000095648" "0" "50" "1" "237711861" "237711861" "subst" "1.21885E-5" "00006" "RYR2_000023" "g.237711861C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.C3037T" "" "Germline" "" "" "0" "" "" "g.237548561C>T" "" "VUS" "" "0000095659" "0" "50" "1" "237880494" "237880494" "subst" "0.00189496" "00006" "RYR2_000020" "g.237880494A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.10324-4A>G" "" "Germline" "" "" "0" "" "" "g.237717194A>G" "" "VUS" "" "0000095660" "0" "50" "1" "237886554" "237886554" "subst" "8.14558E-6" "00006" "RYR2_000021" "g.237886554C>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.C10681G" "" "Germline" "" "" "0" "" "" "g.237723254C>G" "" "VUS" "" "0000095678" "0" "50" "1" "237880494" "237880494" "subst" "0.00189496" "00006" "RYR2_000020" "g.237880494A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.10324-4A>G" "" "Germline" "" "" "0" "" "" "g.237717194A>G" "" "VUS" "" "0000095745" "0" "50" "1" "237713928" "237713928" "subst" "9.72517E-5" "00006" "RYR2_000024" "g.237713928C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.C3151T" "" "Germline" "" "" "0" "" "" "g.237550628C>T" "" "VUS" "" "0000095746" "0" "50" "1" "237794736" "237794736" "subst" "4.07884E-6" "00006" "RYR2_000022" "g.237794736G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001035:c.G6450A" "" "Germline" "" "" "0" "" "" "g.237631436G>A" "" "VUS" "" "0000096477" "0" "70" "1" "237617756" "237617756" "subst" "3.66554E-5" "01601" "RYR2_000012" "g.237617756G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237454456G>C" "" "likely pathogenic" "" "0000096482" "0" "50" "1" "237872302" "237872302" "subst" "0" "01601" "RYR2_000010" "g.237872302C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237709002C>T" "" "VUS" "" "0000096501" "0" "70" "1" "237947442" "237947442" "subst" "0" "01601" "RYR2_000011" "g.237947442C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237784142C>A" "" "likely pathogenic" "" "0000096503" "0" "70" "1" "237958606" "237958606" "subst" "0" "01601" "RYR2_000009" "g.237958606A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237795306A>G" "" "likely pathogenic" "" "0000096979" "0" "70" "1" "237711730" "237711730" "subst" "0" "01602" "RYR2_000008" "g.237711730G>C" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "association with disease phenotype not proven" "Germline" "?" "rs111843122" "0" "" "" "g.237548430G>C" "" "likely pathogenic" "" "0000165050" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Bhuiyan 2007:}" "" "1.1kb deletion" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165051" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "1.1kb deletion" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165052" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "3.6kb deletion" "{FSM:hRYR2mut}; (grammar): Expected W:(acgt...) (at char 15), (line:1, col:16)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165053" "0" "90" "1" "237494193" "237494193" "subst" "4.06276E-6" "00006" "RYR2_000771" "g.237494193C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C184T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237330893C>T" "" "pathogenic" "" "0000165054" "0" "90" "1" "237494239" "237494239" "subst" "4.06283E-6" "00006" "RYR2_000772" "g.237494239C>T" "" "{PMID:d\'Amati 2005:16084945}" "" "C230T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237330939C>T" "" "pathogenic" "" "0000165055" "0" "90" "1" "237494239" "237494239" "subst" "4.06283E-6" "00006" "RYR2_000772" "g.237494239C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C230T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237330939C>T" "" "pathogenic" "" "0000165056" "0" "90" "1" "237494250" "237494250" "subst" "0" "00006" "RYR2_000773" "g.237494250A>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A241C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237330950A>C" "" "pathogenic" "" "0000165057" "0" "90" "1" "237540652" "237540652" "subst" "0" "00006" "RYR2_000775" "g.237540652C>T" "" "{PMID:Choi 2004:15466642}" "" "C493T" "{FSM:hRYR2mut}; (variantchecker): C not found at position 613, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237377352C>T" "" "pathogenic" "" "0000165058" "0" "90" "1" "237540652" "237540652" "subst" "0" "00006" "RYR2_000775" "g.237540652C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C493T" "{FSM:hRYR2mut}; (variantchecker): C not found at position 613, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237377352C>T" "" "pathogenic" "" "0000165059" "0" "90" "1" "237540665" "237540665" "subst" "0" "00006" "RYR2_000776" "g.237540665G>A" "" "{PMID:Hsueh 2006:16517285}" "" "G506A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377365G>A" "" "pathogenic" "" "0000165060" "0" "90" "1" "237540665" "237540665" "subst" "0" "00006" "RYR2_000776" "g.237540665G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G506A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377365G>A" "" "pathogenic" "" "0000165061" "0" "90" "1" "237494239" "237494239" "subst" "4.06283E-6" "00006" "RYR2_000772" "g.237494239C>T" "" "{PMID:D\'Amati 2005:16084945}" "" "C230T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237330939C>T" "" "pathogenic" "" "0000165062" "0" "90" "1" "237540649" "237540649" "subst" "0" "00006" "RYR2_000774" "g.237540649C>T" "" "{PMID:Choi 2004:15466642}" "" "C490T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377349C>T" "" "pathogenic" "" "0000165063" "0" "90" "1" "237540649" "237540649" "subst" "0" "00006" "RYR2_000774" "g.237540649C>T" "" "{PMID:Tester 2006:16818210}" "" "C490T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377349C>T" "" "pathogenic" "" "0000165064" "0" "90" "1" "237540665" "237540665" "subst" "0" "00006" "RYR2_000776" "g.237540665G>A" "" "{PMID:Hsueh 2006:16517285}" "" "G506A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377365G>A" "" "pathogenic" "" "0000165065" "0" "90" "1" "237540686" "237540686" "subst" "0" "00006" "RYR2_000777" "g.237540686G>A" "" "{PMID:Tiso 2001:11159936}" "" "G527A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377386G>A" "" "pathogenic" "" "0000165066" "0" "90" "1" "237540686" "237540686" "subst" "0" "00006" "RYR2_000777" "g.237540686G>A" "" "{PMID:Tester 2005:16188589}" "" "G527A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377386G>A" "" "pathogenic" "" "0000165067" "0" "90" "1" "237540686" "237540686" "subst" "0" "00006" "RYR2_000777" "g.237540686G>A" "" "{PMID:Haugaa 2010 :20106799}" "" "G527A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377386G>A" "" "pathogenic" "" "0000165068" "0" "90" "1" "237540715" "237540715" "subst" "2.44437E-5" "00006" "RYR2_000046" "g.237540715G>A" "" "{PMID:Tester 2006:16818210}" "" "G556A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377415G>A" "" "pathogenic" "" "0000165069" "0" "90" "1" "237540726" "237540726" "subst" "0" "00006" "RYR2_000778" "g.237540726A>T" "" "{PMID:Davis 2006:19926015}" "" "A567T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377426A>T" "" "pathogenic" "" "0000165070" "0" "90" "1" "237540726" "237540726" "subst" "0" "00006" "RYR2_000778" "g.237540726A>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A567T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377426A>T" "" "pathogenic" "" "0000165071" "0" "90" "1" "237540726" "237540726" "subst" "0" "00006" "RYR2_000778" "g.237540726A>T" "" "{PMID:Jones 2010:19926015}" "" "A567T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237377426A>T" "" "pathogenic" "" "0000165072" "0" "90" "1" "237551437" "237551437" "subst" "0" "00006" "RYR2_000743" "g.237551437G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G727A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237388137G>A" "" "pathogenic" "" "0000165073" "0" "90" "1" "237586528" "237586528" "subst" "0" "00006" "RYR2_000744" "g.237586528T>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "T985C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237423228T>C" "" "pathogenic" "" "0000165074" "0" "90" "1" "237586537" "237586537" "subst" "0" "00006" "RYR2_000745" "g.237586537C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C994T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237423237C>T" "" "pathogenic" "" "0000165075" "0" "10" "1" "237604742" "237604742" "subst" "0" "00006" "RYR2_000747" "g.237604742G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G1129A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237441442G>A" "" "benign" "" "0000165076" "0" "90" "1" "237604685" "237604685" "subst" "0" "00006" "RYR2_000746" "g.237604685G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G1072A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237441385G>A" "" "pathogenic" "" "0000165077" "0" "90" "1" "237608770" "237608770" "subst" "0" "00006" "RYR2_000748" "g.237608770C>T" "" "{PMID:Tester 2005:16188589}" "" "C1240T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445470C>T" "" "pathogenic" "" "0000165078" "0" "90" "1" "237608770" "237608770" "subst" "0" "00006" "RYR2_000748" "g.237608770C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C1240T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445470C>T" "" "pathogenic" "" "0000165079" "0" "90" "1" "237608771" "237608771" "subst" "0" "00006" "RYR2_000749" "g.237608771G>T" "" "{PMID:Choi 2004:15466642}" "" "G1241T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445471G>T" "" "pathogenic" "" "0000165080" "0" "90" "1" "237608771" "237608771" "subst" "0" "00006" "RYR2_000749" "g.237608771G>T" "" "{PMID:Tester 2005:16188589}" "" "G1241T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445471G>T" "" "pathogenic" "" "0000165081" "0" "90" "1" "237608774" "237608774" "subst" "0" "00006" "RYR2_000750" "g.237608774C>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C1244G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445474C>G" "" "pathogenic" "" "0000165082" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Creigthon 2006:16436635}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165083" "0" "90" "1" "237608785" "237608785" "subst" "0" "00006" "RYR2_000751" "g.237608785A>T" "" "{PMID:Choi 2004:15466642}" "" "A1255T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445485A>T" "" "pathogenic" "" "0000165084" "0" "90" "1" "237608785" "237608785" "subst" "0" "00006" "RYR2_000751" "g.237608785A>T" "" "{PMID:Tester 2005:16188589}" "" "A1255T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445485A>T" "" "pathogenic" "" "0000165085" "0" "90" "1" "237608788" "237608788" "subst" "4.06623E-6" "00006" "RYR2_000752" "g.237608788C>T" "" "{PMID:Bauce 2002:12106942}" "" "C1258T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445488C>T" "" "pathogenic" "" "0000165086" "0" "90" "1" "237608788" "237608788" "subst" "4.06623E-6" "00006" "RYR2_000752" "g.237608788C>T" "" "{PMID:Tester 2004:15544015}" "" "C1258T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445488C>T" "" "pathogenic" "" "0000165087" "0" "90" "1" "237608788" "237608788" "subst" "4.06623E-6" "00006" "RYR2_000752" "g.237608788C>T" "" "{PMID:Nishio 2006:17062961}" "" "C1258T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445488C>T" "" "pathogenic" "" "0000165088" "0" "90" "1" "237608789" "237608789" "subst" "0" "00006" "RYR2_000753" "g.237608789G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G1259A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237445489G>A" "" "pathogenic" "" "0000165089" "0" "90" "1" "237617696" "237617696" "subst" "0" "00006" "RYR2_000754" "g.237617696T>C" "" "{PMID:Tiso 2001:11159936}" "" "T1298C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237454396T>C" "" "pathogenic" "" "0000165090" "0" "90" "1" "237617794" "237617794" "subst" "9.3636E-5" "00006" "RYR2_000109" "g.237617794C>G" "" "{PMID:Tester 2005:16188589}" "" "C1396G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237454494C>G" "" "pathogenic" "" "0000165091" "0" "10" "1" "237619942" "237619942" "subst" "0.0035864" "00006" "RYR2_000112" "g.237619942G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G1519A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237456642G>A" "" "benign" "" "0000165092" "0" "90" "1" "237632425" "237632425" "subst" "0" "00006" "RYR2_000755" "g.237632425C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C1646T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237469125C>T" "" "pathogenic" "" "0000165093" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19781797}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165094" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165095" "0" "90" "1" "237664023" "237664023" "subst" "4.0842E-6" "00006" "RYR2_000756" "g.237664023G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G2216A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237500723G>A" "" "pathogenic" "" "0000165096" "0" "90" "1" "237711862" "237711862" "subst" "0.000450974" "00006" "RYR2_000013" "g.237711862G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G3038A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237548562G>A" "" "pathogenic" "" "0000165097" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19781797}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165098" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165099" "0" "10" "1" "237730059" "237730059" "subst" "0.00685678" "00006" "RYR2_000214" "g.237730059C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C3407T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237566759C>T" "" "benign" "" "0000165100" "0" "90" "1" "237729972" "237729972" "subst" "0.000406339" "00006" "RYR2_000203" "g.237729972C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C3320T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237566672C>T" "" "pathogenic" "" "0000165101" "0" "90" "1" "237777597" "237777597" "subst" "0" "00006" "RYR2_000757" "g.237777597G>A" "" "{PMID:Postma 2005:16272262}" "" "G5169A" "{FSM:hRYR2mut}; (variantchecker): G not found at position 5289, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237614297G>A" "" "pathogenic" "" "0000165102" "0" "90" "1" "237777598" "237777598" "subst" "0" "00006" "RYR2_000758" "g.237777598G>A" "" "{PMID:Postma 2005:16272262}" "" "G5170A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237614298G>A" "" "pathogenic" "" "0000165103" "0" "90" "1" "237777598" "237777598" "subst" "0" "00006" "RYR2_000758" "g.237777598G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G5170A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237614298G>A" "" "pathogenic" "" "0000165104" "0" "90" "1" "237777937" "237777937" "subst" "2.03693E-5" "00006" "RYR2_000759" "g.237777937G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G5509A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237614637G>A" "" "pathogenic" "" "0000165105" "0" "90" "1" "237778082" "237778082" "subst" "0.0155991" "00006" "RYR2_000298" "g.237778082G>A" "" "{PMID:Milting 2006:19926015}" "" "G5654A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237614782G>A" "" "pathogenic" "" "0000165106" "0" "90" "1" "237778084" "237778084" "subst" "0.0404671" "00006" "RYR2_000300" "g.237778084G>A" "" "{PMID:Milting 2006:16769042}" "" "G5656A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237614784G>A" "" "pathogenic" "" "0000165107" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19781797}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165108" "0" "90" "1" "237789075" "237789075" "subst" "0" "00006" "RYR2_000760" "g.237789075A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A6137G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237625775A>G" "" "pathogenic" "" "0000165109" "0" "90" "1" "237791277" "237791277" "subst" "0.000394235" "00006" "RYR2_000335" "g.237791277G>A" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "G6337A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237627977G>A" "" "pathogenic" "" "0000165110" "0" "90" "1" "237791277" "237791277" "subst" "0.000394235" "00006" "RYR2_000335" "g.237791277G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G6337A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237627977G>A" "" "pathogenic" "" "0000165111" "0" "90" "1" "237791277" "237791277" "subst" "0.000394235" "00006" "RYR2_000335" "g.237791277G>A" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "G6337A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237627977G>A" "" "pathogenic" "" "0000165112" "0" "90" "1" "237791277" "237791277" "subst" "0.000394235" "00006" "RYR2_000335" "g.237791277G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G6337A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237627977G>A" "" "pathogenic" "" "0000165113" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19781797}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165114" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165115" "0" "10" "1" "237794753" "237794753" "subst" "0" "00006" "RYR2_000761" "g.237794753A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A6467G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237631453A>G" "" "benign" "" "0000165116" "0" "90" "1" "237794790" "237794790" "subst" "0" "00006" "RYR2_000762" "g.237794790C>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C6504G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237631490C>G" "" "pathogenic" "" "0000165117" "0" "10" "1" "237794834" "237794834" "subst" "4.12971E-6" "00006" "RYR2_000763" "g.237794834A>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A6548T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237631534A>T" "" "benign" "" "0000165118" "0" "90" "1" "237796969" "237796969" "subst" "0" "00006" "RYR2_000764" "g.237796969A>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A6647T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237633669A>T" "" "pathogenic" "" "0000165119" "0" "90" "1" "237798237" "237798237" "subst" "0" "00006" "RYR2_000765" "g.237798237C>T" "" "{PMID:Priori 2001:11208676}" "" "C6737T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237634937C>T" "" "pathogenic" "" "0000165120" "0" "90" "1" "237798237" "237798237" "subst" "0" "00006" "RYR2_000765" "g.237798237C>T" "" "{PMID:Tester 2004:15544015}" "" "C6737T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237634937C>T" "" "pathogenic" "" "0000165121" "0" "90" "1" "237798240" "237798240" "subst" "0" "00006" "RYR2_000766" "g.237798240C>T" "" "{PMID:Priori 2001:11208676}" "" "C6740T" "{FSM:hRYR2mut}; (variantchecker): C not found at position 6860, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237634940C>T" "" "pathogenic" "" "0000165122" "0" "90" "1" "237798240" "237798240" "subst" "0" "00006" "RYR2_000766" "g.237798240C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C6740T" "{FSM:hRYR2mut}; (variantchecker): C not found at position 6860, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237634940C>T" "" "pathogenic" "" "0000165123" "0" "90" "1" "237798261" "237798261" "subst" "0" "00006" "RYR2_000767" "g.237798261C>T" "" "{PMID:Postma 2005:16272262}" "" "C6761T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237634961C>T" "" "pathogenic" "" "0000165124" "0" "90" "1" "237801664" "237801664" "subst" "2.84551E-5" "00006" "RYR2_000768" "g.237801664G>A" "" "{PMID:Tester 2007:17556193}" "" "G6800A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638364G>A" "" "pathogenic" "" "0000165125" "0" "90" "1" "237801664" "237801664" "subst" "2.84551E-5" "00006" "RYR2_000768" "g.237801664G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G6800A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638364G>A" "" "pathogenic" "" "0000165126" "0" "90" "1" "237801750" "237801750" "subst" "0" "00006" "RYR2_000769" "g.237801750G>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G6886C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638450G>C" "" "pathogenic" "" "0000165127" "0" "90" "1" "237801780" "237801780" "subst" "0" "00006" "RYR2_000770" "g.237801780G>A" "" "{PMID:Laitinen 2003:14571276}" "" "G6916A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638480G>A" "" "pathogenic" "" "0000165128" "0" "90" "1" "237801783" "237801783" "subst" "0" "00006" "RYR2_000662" "g.237801783T>C" "" "{PMID:Berge 2008:18752142}" "" "T6919C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638483T>C" "" "pathogenic" "" "0000165129" "0" "90" "1" "237801783" "237801783" "subst" "0" "00006" "RYR2_000662" "g.237801783T>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "T6919C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237638483T>C" "" "pathogenic" "" "0000165130" "0" "90" "1" "237802319" "237802319" "subst" "0" "00006" "RYR2_000663" "g.237802319G>A" "" "{PMID:Priori 2002:12093772}" "" "G6933A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237639019G>A" "" "pathogenic" "" "0000165131" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Nishio 2008:17062961}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165132" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165133" "0" "90" "1" "237802368" "237802368" "subst" "0" "00006" "RYR2_000664" "g.237802368C>T" "" "{PMID:Laitinen2001:11157710}" "" "C6982T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237639068C>T" "" "pathogenic" "" "0000165134" "0" "90" "1" "237802378" "237802378" "subst" "0" "00006" "RYR2_000665" "g.237802378T>C" "" "{PMID:Creigthon 2006:16436635}" "" "T6992C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237639078T>C" "" "pathogenic" "" "0000165135" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Haugaa 2010 :20106799}" "" "" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165136" "0" "90" "1" "237802462" "237802462" "subst" "3.25468E-5" "00006" "RYR2_000666" "g.237802462G>A" "" "{PMID:Aizawa et a 2006:16823244}" "" "G7076A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237639162G>A" "" "pathogenic" "" "0000165137" "0" "90" "1" "237804238" "237804238" "subst" "0" "00006" "RYR2_000667" "g.237804238A>T" "" "{PMID:Tiso 2001:11159936}" "" "A7157T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640938A>T" "" "pathogenic" "" "0000165138" "0" "90" "1" "237804239" "237804239" "subst" "0" "00006" "RYR2_000668" "g.237804239G>A" "" "{PMID:Tester 2005:16188589}" "" "G7158A" "{FSM:hRYR2mut}; (variantchecker): G not found at position 7278, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237640939G>A" "" "pathogenic" "" "0000165139" "0" "90" "1" "237804239" "237804239" "subst" "0" "00006" "RYR2_000669" "g.237804239G>C" "" "{PMID:Bagattin 2004:15131021}" "" "G7158C" "{FSM:hRYR2mut}; (variantchecker): G not found at position 7278, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237640939G>C" "" "pathogenic" "" "0000165140" "0" "10" "1" "237804246" "237804246" "subst" "0" "00006" "RYR2_000670" "g.237804246A>C" "" "{PMID:Tester Circulation 2005:19926015}" "" "A7165C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640946A>C" "" "benign" "" "0000165141" "0" "10" "1" "237804246" "237804246" "subst" "0" "00006" "RYR2_000670" "g.237804246A>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A7165C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640946A>C" "" "benign" "" "0000165142" "0" "90" "1" "237804256" "237804256" "subst" "4.06994E-6" "00006" "RYR2_000671" "g.237804256A>G" "" "{PMID:Bauce 2002:12106942}" "" "A7175G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640956A>G" "" "pathogenic" "" "0000165143" "0" "90" "1" "237804262" "237804262" "subst" "0" "00006" "RYR2_000672" "g.237804262C>G" "" "{PMID:Postma 2005:16272262}" "" "C7181G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640962C>G" "" "pathogenic" "" "0000165144" "0" "90" "1" "237804283" "237804283" "subst" "0" "00006" "RYR2_000673" "g.237804283G>A" "" "{PMID:Aizawa 2005:15749201}" "" "G7202A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640983G>A" "" "pathogenic" "" "0000165145" "0" "90" "1" "237806677" "237806677" "subst" "0" "00006" "RYR2_000677" "g.237806677G>T" "" "{PMID:Creigthon 2006:16436635}" "" "G7272T" "{FSM:hRYR2mut}; (variantchecker): G not found at position 7392, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237643377G>T" "" "pathogenic" "" "0000165146" "0" "90" "1" "237804288" "237804288" "subst" "0" "00006" "RYR2_000674" "g.237804288G>A" "" "{PMID:Choi 2004:15466642}" "" "G7207A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640988G>A" "" "pathogenic" "" "0000165147" "0" "90" "1" "237804288" "237804288" "subst" "0" "00006" "RYR2_000674" "g.237804288G>A" "" "{PMID:Tester 2005:16188589}" "" "G7207A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640988G>A" "" "pathogenic" "" "0000165148" "0" "90" "1" "237804291" "237804291" "subst" "0" "00006" "RYR2_000675" "g.237804291C>A" "" "{PMID:Beckmann 2008:18463390}" "" "C7210A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640991C>A" "" "pathogenic" "" "0000165149" "0" "90" "1" "237804291" "237804291" "subst" "0" "00006" "RYR2_000675" "g.237804291C>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C7210A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237640991C>A" "" "pathogenic" "" "0000165150" "0" "90" "1" "237811823" "237811823" "subst" "0" "00006" "RYR2_000678" "g.237811823G>C" "" "{PMID:Priori 2001:11208676}" "" "G7422C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237648523G>C" "" "pathogenic" "" "0000165151" "0" "90" "1" "237806663" "237806663" "subst" "0" "00006" "RYR2_000676" "g.237806663A>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A7258T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237643363A>T" "" "pathogenic" "" "0000165152" "0" "90" "1" "237811824" "237811824" "subst" "0" "00006" "RYR2_000679" "g.237811824G>T" "" "{PMID:Tester 2005:15887426}" "" "G7423T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237648524G>T" "" "pathogenic" "" "0000165153" "0" "10" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Tester 2005:16188589}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000165154" "0" "90" "1" "237811912" "237811912" "subst" "0" "00006" "RYR2_000680" "g.237811912C>T" "" "{PMID:Tiso 2001:11159936}" "" "C7511T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237648612C>T" "" "pathogenic" "" "0000165155" "0" "90" "1" "237813192" "237813192" "subst" "0" "00006" "RYR2_000681" "g.237813192T>C" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "T7528C" "{FSM:hRYR2mut}; (variantchecker): T not found at position 7648, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237649892T>C" "" "pathogenic" "" "0000165156" "0" "90" "1" "237813192" "237813192" "subst" "0" "00006" "RYR2_000681" "g.237813192T>C" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "T7528C" "{FSM:hRYR2mut}; (variantchecker): T not found at position 7648, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237649892T>C" "" "pathogenic" "" "0000165157" "0" "90" "1" "237813263" "237813263" "subst" "0" "00006" "RYR2_000682" "g.237813263C>G" "" "{PMID:Hasdemir 2004:15175074}" "" "C7599G" "{FSM:hRYR2mut}; (variantchecker): C not found at position 7719, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237649963C>G" "" "pathogenic" "" "0000165158" "0" "90" "1" "237841391" "237841391" "subst" "0" "00006" "RYR2_000683" "g.237841391A>G" "" "{PMID:Tiso 2001:11159936}" "" "A8874G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237678091A>G" "" "pathogenic" "" "0000165159" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19216760}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165160" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Marjamaa 2009:19781797}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165161" "0" "90" "1" "237923082" "237923082" "subst" "0" "00006" "RYR2_000684" "g.237923082C>T" "" "{PMID:Priori 2002:12093772}" "" "C11332T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237759782C>T" "" "pathogenic" "" "0000165162" "0" "90" "1" "237923149" "237923149" "subst" "4.08437E-6" "00006" "RYR2_000685" "g.237923149G>T" "" "{PMID:Tester 2005:16188589}" "" "G11399T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237759849G>T" "" "pathogenic" "" "0000165163" "0" "90" "1" "237935390" "237935390" "subst" "0" "00006" "RYR2_000686" "g.237935390C>C" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "C11636C" "{FSM:hRYR2mut}; (variantchecker): C not found at position 11756, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237772090C>C" "" "pathogenic" "" "0000165164" "0" "90" "1" "237935390" "237935390" "subst" "0" "00006" "RYR2_000686" "g.237935390C>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C11636C" "{FSM:hRYR2mut}; (variantchecker): C not found at position 11756, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237772090C>C" "" "pathogenic" "" "0000165165" "0" "90" "1" "237936946" "237936946" "subst" "0" "00006" "RYR2_000687" "g.237936946C>G" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "C11773G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237773646C>G" "" "pathogenic" "" "0000165166" "0" "90" "1" "237936946" "237936946" "subst" "0" "00006" "RYR2_000687" "g.237936946C>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C11773G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237773646C>G" "" "pathogenic" "" "0000165167" "0" "90" "1" "237942004" "237942004" "subst" "0" "00006" "RYR2_000688" "g.237942004C>A" "" "{PMID:Tester 2006:16818210}" "" "C11814A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237778704C>A" "" "pathogenic" "" "0000165168" "0" "90" "1" "237942026" "237942026" "subst" "0" "00006" "RYR2_000689" "g.237942026G>A" "" "{PMID:Priori 2002:12093772}" "" "G11836A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237778726G>A" "" "pathogenic" "" "0000165169" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Davis 2006:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165170" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165171" "0" "90" "1" "237942066" "237942066" "subst" "0" "00006" "RYR2_000690" "g.237942066C>T" "" "{PMID:Tester Heart Rhythm 2009:19926015}" "" "C11876T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237778766C>T" "" "pathogenic" "" "0000165172" "0" "90" "1" "237942066" "237942066" "subst" "0" "00006" "RYR2_000690" "g.237942066C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C11876T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237778766C>T" "" "pathogenic" "" "0000165173" "0" "90" "1" "237944900" "237944900" "subst" "0" "00006" "RYR2_000691" "g.237944900G>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G11916T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237781600G>T" "" "pathogenic" "" "0000165174" "0" "90" "1" "237944901" "237944901" "subst" "0" "00006" "RYR2_000692" "g.237944901G>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G11917C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237781601G>C" "" "pathogenic" "" "0000165175" "0" "90" "1" "237944905" "237944905" "subst" "0" "00006" "RYR2_000693" "g.237944905T>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "T11921A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237781605T>A" "" "pathogenic" "" "0000165176" "0" "90" "1" "237947001" "237947001" "subst" "0" "00006" "RYR2_000694" "g.237947001A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A11989G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237783701A>G" "" "pathogenic" "" "0000165177" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Postma 2005:16272262}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165178" "0" "90" "1" "237947238" "237947238" "subst" "0" "00006" "RYR2_000696" "g.237947238A>G" "" "{PMID:Postma 2005:16272262}" "" "A12226G" "{FSM:hRYR2mut}; (variantchecker): A not found at position 12346, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237783938A>G" "" "pathogenic" "" "0000165179" "0" "90" "1" "237947040" "237947040" "subst" "0" "00006" "RYR2_000695" "g.237947040G>A" "" "{PMID:Tester Circulation 2005:19926015}" "" "G12028A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237783740G>A" "" "pathogenic" "" "0000165180" "0" "90" "1" "237947040" "237947040" "subst" "0" "00006" "RYR2_000695" "g.237947040G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G12028A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237783740G>A" "" "pathogenic" "" "0000165181" "0" "90" "1" "237947302" "237947302" "subst" "0" "00006" "RYR2_000697" "g.237947302A>G" "" "{PMID:Tester 2004:15544015}" "" "A12290G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784002A>G" "" "pathogenic" "" "0000165182" "0" "90" "1" "237947324" "237947324" "subst" "0" "00006" "RYR2_000699" "g.237947324C>G" "" "{PMID:Priori 2001:11208676}" "" "C12312G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784024C>G" "" "pathogenic" "" "0000165183" "0" "90" "1" "237947323" "237947323" "subst" "0" "00006" "RYR2_000698" "g.237947323A>T" "" "{PMID:Postma 2005:16272262}" "" "A12311T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784023A>T" "" "pathogenic" "" "0000165184" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Hasdemir C 2008:18849218}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165185" "0" "90" "1" "237947334" "237947334" "subst" "0" "00006" "RYR2_000700" "g.237947334C>A" "" "{PMID:Postma 2005:16272262}" "" "C12322A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784034C>A" "" "pathogenic" "" "0000165186" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Postma 2005:16272262}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165187" "0" "90" "1" "237947382" "237947382" "subst" "0" "00006" "RYR2_000701" "g.237947382A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A12370G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784082A>G" "" "pathogenic" "" "0000165188" "0" "90" "1" "237947383" "237947383" "subst" "0" "00006" "RYR2_000702" "g.237947383G>C" "" "{PMID:Tester 2005:16188589}" "" "G12371C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784083G>C" "" "pathogenic" "" "0000165189" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Berge 2008:18752142}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165190" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165191" "0" "90" "1" "237947448" "237947448" "subst" "0" "00006" "RYR2_000703" "g.237947448G>A" "" "{PMID:Tester 2004:15544015}" "" "G12436A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784148G>A" "" "pathogenic" "" "0000165192" "0" "90" "1" "237947458" "237947458" "subst" "0" "00006" "RYR2_000704" "g.237947458A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A12446G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784158A>G" "" "pathogenic" "" "0000165193" "0" "90" "1" "237947482" "237947482" "subst" "0" "00006" "RYR2_000705" "g.237947482G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G12470A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784182G>A" "" "pathogenic" "" "0000165194" "0" "90" "1" "237947484" "237947484" "subst" "0" "00006" "RYR2_000706" "g.237947484A>C" "" "{PMID:Tester 2004:15544015}" "" "A12472C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784184A>C" "" "pathogenic" "" "0000165195" "0" "90" "1" "237947488" "237947488" "subst" "0" "00006" "RYR2_000707" "g.237947488A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A12476G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784188A>G" "" "pathogenic" "" "0000165196" "0" "90" "1" "237947545" "237947545" "subst" "0" "00006" "RYR2_000708" "g.237947545A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A12533G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784245A>G" "" "pathogenic" "" "0000165197" "0" "90" "1" "237947571" "237947571" "subst" "0" "00006" "RYR2_000709" "g.237947571G>C" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G12559C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784271G>C" "" "pathogenic" "" "0000165198" "0" "90" "1" "237947598" "237947598" "subst" "0" "00006" "RYR2_000710" "g.237947598A>G" "" "{PMID:Tester 2006:16818210}" "" "A12586G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784298A>G" "" "pathogenic" "" "0000165199" "0" "90" "1" "237947613" "237947613" "subst" "0" "00006" "RYR2_000711" "g.237947613C>A" "" "{PMID:Laitinen2001:11157710}" "" "C12601A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784313C>A" "" "pathogenic" "" "0000165200" "0" "10" "1" "237947857" "237947857" "subst" "2.03608E-5" "00006" "RYR2_000712" "g.237947857C>T" "" "{PMID:Tester Circulation 2005:19926015}" "" "C12845T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784557C>T" "" "benign" "" "0000165201" "0" "10" "1" "237947857" "237947857" "subst" "2.03608E-5" "00006" "RYR2_000712" "g.237947857C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C12845T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784557C>T" "" "benign" "" "0000165202" "0" "10" "1" "237947931" "237947931" "subst" "0.000333765" "00006" "RYR2_000627" "g.237947931C>T" "" "{PMID:Callis Heart Rhythm 2009:19926015}" "" "C12919T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784631C>T" "" "benign" "" "0000165203" "0" "10" "1" "237947931" "237947931" "subst" "0.000333765" "00006" "RYR2_000627" "g.237947931C>T" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C12919T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784631C>T" "" "benign" "" "0000165204" "0" "10" "1" "237947956" "237947956" "subst" "2.44302E-5" "00006" "RYR2_000713" "g.237947956G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G12944A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237784656G>A" "" "benign" "" "0000165205" "0" "90" "1" "237949299" "237949299" "subst" "0.000235265" "00006" "RYR2_000714" "g.237949299G>A" "" "{PMID:Berge 2008:18752142}" "" "G13291A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237785999G>A" "" "pathogenic" "" "0000165206" "0" "90" "1" "237949299" "237949299" "subst" "0.000235265" "00006" "RYR2_000714" "g.237949299G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G13291A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237785999G>A" "" "pathogenic" "" "0000165207" "0" "90" "1" "237954741" "237954741" "subst" "0" "00006" "RYR2_000715" "g.237954741C>T" "" "{PMID:Priori 2001:11208676}" "" "C13489T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237791441C>T" "" "pathogenic" "" "0000165208" "0" "90" "1" "237954741" "237954741" "subst" "0" "00006" "RYR2_000715" "g.237954741C>T" "" "{PMID:Tester 2004:15544015}" "" "C13489T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237791441C>T" "" "pathogenic" "" "0000165209" "0" "90" "1" "237954748" "237954748" "subst" "0" "00006" "RYR2_000716" "g.237954748T>G" "" "{PMID:Choi 2004:15466642}" "" "T13496G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237791448T>G" "" "pathogenic" "" "0000165210" "0" "90" "1" "237954748" "237954748" "subst" "0" "00006" "RYR2_000716" "g.237954748T>G" "" "{PMID:Tester 2005:16188589}" "" "T13496G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237791448T>G" "" "pathogenic" "" "0000165211" "0" "90" "1" "237954764" "237954764" "subst" "0" "00006" "RYR2_000717" "g.237954764G>A" "" "{PMID:Bagattin 2004:15131021}" "" "G13512A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237791464G>A" "" "pathogenic" "" "0000165212" "0" "90" "1" "237954780" "237954780" "subst" "0" "00006" "RYR2_000718" "g.237954780A>G" "" "{PMID:Laitinen2001:11157710}" "" "A13528G" "{FSM:hRYR2mut}; (variantchecker): A not found at position 13648, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237791480A>G" "" "pathogenic" "" "0000165213" "0" "90" "1" "237954780" "237954780" "subst" "0" "00006" "RYR2_000718" "g.237954780A>G" "" "{PMID:Tester 2005:16188589}" "" "A13528G" "{FSM:hRYR2mut}; (variantchecker): A not found at position 13648, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237791480A>G" "" "pathogenic" "" "0000165214" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Beckmann 2008:18463390}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165215" "0" "90" "1" "237955507" "237955507" "subst" "4.07037E-5" "00006" "RYR2_000658" "g.237955507G>A" "" "{PMID:Tester 2005:16188589}" "" "G13666A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237792207G>A" "" "pathogenic" "" "0000165216" "0" "90" "1" "237955536" "237955536" "subst" "0" "00006" "RYR2_000719" "g.237955536C>A" "" "{PMID:Tester 2007:17556193}" "" "C13695A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237792236C>A" "" "pathogenic" "" "0000165217" "0" "90" "1" "237955536" "237955536" "subst" "0" "00006" "RYR2_000719" "g.237955536C>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "C13695A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237792236C>A" "" "pathogenic" "" "0000165218" "0" "90" "1" "237961337" "237961337" "subst" "0" "00006" "RYR2_000723" "g.237961337G>T" "" "{PMID:Laitinen2001:11157710}" "" "G13957T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237798037G>T" "" "pathogenic" "" "0000165219" "0" "90" "1" "237957203" "237957203" "subst" "0" "00006" "RYR2_000720" "g.237957203G>C" "" "{PMID:Bagattin 2004:15131021}" "" "G13819C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237793903G>C" "" "pathogenic" "" "0000165220" "0" "90" "1" "237957215" "237957215" "subst" "0" "00006" "RYR2_000721" "g.237957215G>A" "" "{PMID:Berge 2008:18752142}" "" "G13831A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237793915G>A" "" "pathogenic" "" "0000165221" "0" "90" "1" "237957215" "237957215" "subst" "0" "00006" "RYR2_000721" "g.237957215G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G13831A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237793915G>A" "" "pathogenic" "" "0000165222" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Beery 2009:19398417}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165223" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165224" "0" "90" "1" "237958623" "237958623" "subst" "0" "00006" "RYR2_000722" "g.237958623A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A13948G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237795323A>G" "" "pathogenic" "" "0000165225" "0" "90" "1" "237961347" "237961352" "dup" "0" "00006" "RYR2_000724" "g.237961347_237961352dup" "" "{PMID:Tester 2005:16188589}" "" "13967_13972dup" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237798047_237798052dup" "" "pathogenic" "" "0000165226" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Postma 2005:16272262}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165227" "0" "90" "1" "237961390" "237961390" "subst" "0" "00006" "RYR2_000725" "g.237961390G>C" "" "{PMID:Tester 2005:16188589}" "" "G14010C" "{FSM:hRYR2mut}; (variantchecker): G not found at position 14130, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237798090G>C" "" "pathogenic" "" "0000165228" "0" "90" "1" "237961391" "237961391" "subst" "0" "00006" "RYR2_000726" "g.237961391G>C" "" "{PMID:Choi 2004:15466642}" "" "G14011C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237798091G>C" "" "pathogenic" "" "0000165229" "0" "90" "1" "237969490" "237969493" "del" "0" "00006" "RYR2_000727" "g.237969490_237969493del" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "14205_14208del" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237806190_237806193del" "" "pathogenic" "" "0000165230" "0" "90" "1" "237969570" "237969570" "subst" "0" "00006" "RYR2_000728" "g.237969570A>C" "" "{PMID:Postma 2005:16272262}" "" "A14285C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237806270A>C" "" "pathogenic" "" "0000165231" "0" "90" "1" "237972213" "237972213" "subst" "0" "00006" "RYR2_000729" "g.237972213G>A" "" "{PMID:Priori 2002:12093772}" "" "G14311A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237808913G>A" "" "pathogenic" "" "0000165232" "0" "90" "1" "237972271" "237972271" "subst" "4.06329E-6" "00006" "RYR2_000730" "g.237972271G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G14369A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237808971G>A" "" "pathogenic" "" "0000165233" "0" "90" "1" "237972316" "237972316" "subst" "0" "00006" "RYR2_000731" "g.237972316A>G" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "A14414G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237809016A>G" "" "pathogenic" "" "0000165234" "0" "90" "1" "237982367" "237982367" "subst" "0" "00006" "RYR2_000732" "g.237982367G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G14465A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237819067G>A" "" "pathogenic" "" "0000165235" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Haugaa 2010 :20106799}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165236" "0" "90" "1" "237982444" "237982444" "subst" "0" "00006" "RYR2_000733" "g.237982444A>G" "" "{PMID:Choi 2004:15466642}" "" "A14542G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237819144A>G" "" "pathogenic" "" "0000165237" "0" "90" "1" "237982444" "237982444" "subst" "0" "00006" "RYR2_000733" "g.237982444A>G" "" "{PMID:Tester 2005:16188589}" "" "A14542G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237819144A>G" "" "pathogenic" "" "0000165238" "0" "90" "1" "237982454" "237982454" "subst" "0" "00006" "RYR2_000734" "g.237982454T>G" "" "{PMID:Aizawa et a 2006:16823244}" "" "T14552G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237819154T>G" "" "pathogenic" "" "0000165239" "0" "90" "1" "237982481" "237982481" "subst" "0" "00006" "RYR2_000735" "g.237982481C>G" "" "{PMID:Priori 2002:12093772}" "" "C14579G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237819181C>G" "" "pathogenic" "" "0000165240" "0" "90" "1" "237991691" "237991691" "subst" "0" "00006" "RYR2_000736" "g.237991691T>G" "" "{PMID:Priori 2002:12093772}" "" "T14601G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237828391T>G" "" "pathogenic" "" "0000165241" "0" "90" "1" "237991729" "237991729" "subst" "0" "00006" "RYR2_000737" "g.237991729T>C" "" "{PMID:Bagattin 2004:15131021}" "" "T14639C" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237828429T>C" "" "pathogenic" "" "0000165242" "0" "90" "1" "237993857" "237993857" "subst" "0" "00006" "RYR2_000738" "g.237993857A>G" "" "{PMID:Priori 2002:12093772}" "" "A14683G" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237830557A>G" "" "pathogenic" "" "0000165243" "0" "90" "1" "237993879" "237993879" "subst" "0" "00006" "RYR2_000739" "g.237993879C>T" "" "{PMID:Laitinen 2003:14571276}" "" "C14705T" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237830579C>T" "" "pathogenic" "" "0000165244" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Postma 2005:16272262}" "" "-" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000165245" "0" "90" "1" "237994863" "237994863" "subst" "0" "00006" "RYR2_000740" "g.237994863G>A" "" "{PMID:Medeiros-Domingo 2009:19926015}" "" "G14806A" "{FSM:hRYR2mut}; (variantchecker): G not found at position 14926, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237831563G>A" "" "pathogenic" "" "0000165246" "0" "90" "1" "237994863" "237994863" "subst" "0" "00006" "RYR2_000740" "g.237994863G>A" "" "{PMID:Johnson 2010:20395638}" "" "G14806A" "{FSM:hRYR2mut}; (variantchecker): G not found at position 14926, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.237831563G>A" "" "pathogenic" "" "0000165247" "0" "90" "1" "237995891" "237995891" "subst" "0" "00006" "RYR2_000741" "g.237995891G>A" "" "{PMID:Priori 2002:12093772}" "" "G14848A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237832591G>A" "" "pathogenic" "" "0000165248" "0" "90" "1" "237995919" "237995919" "subst" "0" "00006" "RYR2_000742" "g.237995919G>A" "" "{PMID:Laitinen 2003:14571276}" "" "G14876A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237832619G>A" "" "pathogenic" "" "0000165249" "0" "90" "1" "237995919" "237995919" "subst" "0" "00006" "RYR2_000742" "g.237995919G>A" "" "{PMID:Allouis 2005:15721128}" "" "G14876A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237832619G>A" "" "pathogenic" "" "0000165250" "0" "90" "1" "237995919" "237995919" "subst" "0" "00006" "RYR2_000742" "g.237995919G>A" "" "{PMID:Tester 2005:16188589}" "" "G14876A" "{FSM:hRYR2mut};" "Germline" "" "" "0" "" "" "g.237832619G>A" "" "pathogenic" "" "0000168854" "0" "50" "1" "237947502" "237947502" "subst" "0" "01602" "RYR2_000659" "g.237947502C>G" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "" "0" "" "" "g.237784202C>G" "" "VUS" "" "0000168856" "0" "50" "1" "237730032" "237730032" "subst" "0.00107657" "01602" "RYR2_000660" "g.237730032A>G" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs200525962" "0" "" "" "g.237566732A>G" "" "VUS" "" "0000168862" "0" "50" "1" "237924293" "237924293" "subst" "0" "01602" "RYR2_000661" "g.237924293C>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "" "0" "" "" "g.237760993C>T" "" "VUS" "" "0000217959" "0" "50" "1" "237791277" "237791277" "subst" "0.000394235" "02244" "RYR2_000335" "g.237791277G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237627977G>A" "" "VUS" "" "0000217974" "0" "50" "1" "237957285" "237957285" "subst" "0" "02244" "RYR2_000779" "g.237957285T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "0" "" "" "g.237793985T>C" "" "VUS" "" "0000218375" "0" "50" "1" "237655118" "237655118" "subst" "0" "02244" "RYR2_000780" "g.237655118T>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237491818T>G" "" "VUS" "" "0000218398" "0" "50" "1" "237711849" "237711849" "subst" "6.90636E-5" "02244" "RYR2_000783" "g.237711849C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237548549C>T" "" "VUS" "" "0000218404" "0" "50" "1" "237821276" "237821276" "subst" "0.000608931" "02244" "RYR2_000002" "g.237821276T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237657976T>C" "" "VUS" "" "0000218406" "0" "50" "1" "237934127" "237934127" "subst" "0" "02244" "RYR2_000789" "g.237934127G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237770827G>A" "" "VUS" "" "0000218412" "0" "50" "1" "237919660" "237919660" "subst" "4.07471E-6" "02244" "RYR2_000788" "g.237919660G>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237756360G>T" "" "VUS" "" "0000218418" "0" "50" "1" "237870519" "237870519" "subst" "0" "02244" "RYR2_000787" "g.237870519T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237707219T>C" "" "VUS" "" "0000218432" "0" "50" "1" "237659822" "237659822" "subst" "3.66175E-5" "02244" "RYR2_000782" "g.237659822A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237496522A>G" "" "VUS" "" "0000218436" "0" "50" "1" "237802501" "237802501" "subst" "0" "02244" "RYR2_000785" "g.237802501T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237639201T>C" "" "VUS" "" "0000218466" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "02244" "RYR2_000784" "g.237774125C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237610825C>T" "" "VUS" "" "0000218494" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "02244" "RYR2_000781" "g.237656365C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237493065C>T" "" "VUS" "" "0000218500" "0" "50" "1" "237824225" "237824225" "subst" "0" "02244" "RYR2_000786" "g.237824225G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.237660925G>A" "" "VUS" "" "0000245383" "0" "10" "1" "237755076" "237755076" "subst" "0.0167403" "02330" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237591776A>G" "" "benign" "" "0000245384" "0" "10" "1" "237972189" "237972189" "subst" "0.00844084" "02330" "RYR2_001090" "g.237972189A>G" "" "" "" "RYR2(NM_001035.2):c.14299-12A>G, RYR2(NM_001035.3):c.14299-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808889A>G" "" "benign" "" "0000245386" "0" "10" "1" "237948286" "237948286" "subst" "0.00926908" "02330" "RYR2_001062" "g.237948286A>G" "" "" "" "RYR2(NM_001035.2):c.13260+14A>G, RYR2(NM_001035.3):c.13260+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784986A>G" "" "benign" "" "0000245393" "0" "10" "1" "237806763" "237806763" "subst" "0.00477301" "02330" "RYR2_000936" "g.237806763A>G" "" "" "" "RYR2(NM_001035.2):c.7342+16A>G, RYR2(NM_001035.3):c.7342+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237643463A>G" "" "benign" "" "0000245394" "0" "10" "1" "237872762" "237872762" "subst" "0.0171871" "02330" "RYR2_000992" "g.237872762A>G" "" "" "" "RYR2(NM_001035.2):c.10143-18A>G, RYR2(NM_001035.3):c.10143-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237709462A>G" "" "benign" "" "0000245396" "0" "10" "1" "237880494" "237880494" "subst" "0.00189496" "02330" "RYR2_000020" "g.237880494A>G" "" "" "" "RYR2(NM_001035.2):c.10324-4A>G, RYR2(NM_001035.3):c.10324-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717194A>G" "" "benign" "" "0000245397" "0" "10" "1" "237778047" "237778047" "subst" "0.000330726" "02330" "RYR2_000909" "g.237778047A>G" "" "" "" "RYR2(NM_001035.2):c.5619A>G (p.A1873=), RYR2(NM_001035.3):c.5619A>G (p.A1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614747A>G" "" "benign" "" "0000245404" "0" "10" "1" "237994795" "237994795" "subst" "0.000580779" "02330" "RYR2_001102" "g.237994795A>G" "" "" "" "RYR2(NM_001035.2):c.14757-19A>G, RYR2(NM_001035.3):c.14757-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831495A>G" "" "benign" "" "0000245411" "0" "10" "1" "237841390" "237841390" "subst" "0.214321" "02330" "RYR2_000961" "g.237841390A>G" "" "" "" "RYR2(NM_001035.3):c.8873A>G (p.Q2958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237678090A>G" "" "benign" "" "0000245412" "0" "10" "1" "237957161" "237957161" "subst" "0.737568" "02330" "RYR2_001074" "g.237957161A>G" "" "" "" "RYR2(NM_001035.3):c.13783-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237793861A>G" "" "benign" "" "0000245413" "0" "10" "1" "237655173" "237655173" "subst" "0.0201305" "02330" "RYR2_000838" "g.237655173A>T" "" "" "" "RYR2(NM_001035.3):c.1776A>T (p.G592=, p.(Gly592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237491873A>T" "" "benign" "" "0000245414" "0" "10" "1" "237777828" "237777828" "subst" "0.0191452" "02330" "RYR2_000903" "g.237777828A>G" "" "" "" "RYR2(NM_001035.3):c.5400A>G (p.K1800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614528A>G" "" "benign" "" "0000245418" "0" "10" "1" "237765314" "237765314" "del" "0" "02330" "RYR2_000890" "g.237765314del" "" "" "" "RYR2(NM_001035.2):c.4597-11delA, RYR2(NM_001035.3):c.4597-11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602014del" "" "benign" "" "0000245422" "0" "10" "1" "237711797" "237711797" "subst" "0.932851" "02330" "RYR2_000863" "g.237711797A>G" "" "" "" "RYR2(NM_001035.3):c.2973A>G (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548497A>G" "" "benign" "" "0000245427" "0" "10" "1" "237540615" "237540615" "subst" "0.290523" "02330" "RYR2_000797" "g.237540615A>C" "" "" "" "RYR2(NM_001035.3):c.464-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377315A>C" "" "benign" "" "0000245428" "0" "10" "1" "237957309" "237957309" "subst" "0.731941" "02330" "RYR2_001075" "g.237957309A>C" "" "" "" "RYR2(NM_001035.3):c.13913+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237794009A>C" "" "benign" "" "0000245431" "0" "10" "1" "237586561" "237586561" "subst" "0.000112563" "02330" "RYR2_000811" "g.237586561A>G" "" "" "" "RYR2(NM_001035.3):c.1005+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237423261A>G" "" "benign" "" "0000245449" "0" "10" "1" "237608796" "237608796" "subst" "4.06603E-6" "02330" "RYR2_000823" "g.237608796A>G" "" "" "" "RYR2(NM_001035.3):c.1266A>G (p.T422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445496A>G" "" "benign" "" "0000245450" "0" "10" "1" "237659895" "237659895" "subst" "0.00180316" "02330" "RYR2_000843" "g.237659895A>G" "" "" "" "RYR2(NM_001035.2):c.2046A>G (p.T682=), RYR2(NM_001035.3):c.2046A>G (p.T682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237496595A>G" "" "benign" "" "0000245451" "0" "10" "1" "237774085" "237774085" "subst" "0" "02330" "RYR2_000895" "g.237774085A>G" "" "" "" "RYR2(NM_001035.3):c.4707A>G (p.G1569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610785A>G" "" "benign" "" "0000245452" "0" "10" "1" "237802424" "237802424" "subst" "0.0010407" "02330" "RYR2_000928" "g.237802424A>C" "" "" "" "RYR2(NM_001035.3):c.7038A>C (p.A2346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639124A>C" "" "benign" "" "0000245453" "0" "10" "1" "237872792" "237872792" "subst" "0.000668553" "02330" "RYR2_000993" "g.237872792A>G" "" "" "" "RYR2(NM_001035.3):c.10155A>G (p.L3385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237709492A>G" "" "benign" "" "0000245507" "0" "10" "1" "237540615" "237540615" "subst" "0" "02330" "RYR2_000798" "g.237540615A>T" "" "" "" "RYR2(NM_001035.3):c.464-8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377315A>T" "" "benign" "" "0000245508" "0" "10" "1" "237951451" "237951451" "subst" "0.556769" "02330" "RYR2_001064" "g.237951451A>G" "" "" "" "RYR2(NM_001035.3):c.13476+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237788151A>G" "" "benign" "" "0000245528" "0" "30" "1" "237941986" "237941986" "subst" "0" "02330" "RYR2_001034" "g.237941986A>G" "" "" "" "RYR2(NM_001035.3):c.11796A>G (p.Q3932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778686A>G" "" "likely benign" "" "0000245535" "0" "30" "1" "237872179" "237872179" "subst" "0.000392517" "02330" "RYR2_000985" "g.237872179A>G" "" "" "" "RYR2(NM_001035.3):c.9923A>G (p.N3308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708879A>G" "" "likely benign" "" "0000245542" "0" "30" "1" "237494285" "237494285" "subst" "0" "02330" "RYR2_000791" "g.237494285A>G" "" "" "" "RYR2(NM_001035.3):c.273+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237330985A>G" "" "likely benign" "" "0000245546" "0" "70" "1" "237935381" "237935381" "subst" "0" "02330" "RYR2_001028" "g.237935381A>T" "" "" "" "RYR2(NM_001035.3):c.11627A>T (p.D3876V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237772081A>T" "" "likely pathogenic" "" "0000245551" "0" "70" "1" "237921072" "237921072" "subst" "0" "02330" "RYR2_001021" "g.237921072A>T" "" "" "" "RYR2(NM_001035.3):c.11321A>T (p.Q3774L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237757772A>T" "" "likely pathogenic" "" "0000245582" "0" "50" "1" "237666682" "237666682" "subst" "0" "02330" "RYR2_000855" "g.237666682A>T" "" "" "" "RYR2(NM_001035.3):c.2490A>T (p.E830D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503382A>T" "" "VUS" "" "0000245585" "0" "50" "1" "237813283" "237813283" "subst" "0.000158382" "02330" "RYR2_000943" "g.237813283A>G" "" "" "" "RYR2(NM_001035.2):c.7619A>G (p.H2540R), RYR2(NM_001035.3):c.7619A>G (p.H2540R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237649983A>G" "" "VUS" "" "0000245586" "0" "50" "1" "237948199" "237948199" "subst" "4.14467E-6" "02330" "RYR2_001060" "g.237948199A>G" "" "" "" "RYR2(NM_001035.3):c.13187A>G (p.H4396R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784899A>G" "" "VUS" "" "0000245587" "0" "50" "1" "237791367" "237791367" "subst" "0" "02330" "RYR2_000917" "g.237791367A>G" "" "" "" "RYR2(NM_001035.3):c.6427A>G (p.I2143V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237628067A>G" "" "VUS" "" "0000245590" "0" "50" "1" "237872230" "237872230" "subst" "4.08617E-6" "02330" "RYR2_000987" "g.237872230A>G" "" "" "" "RYR2(NM_001035.3):c.9974A>G (p.K3325R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708930A>G" "" "VUS" "" "0000245597" "0" "50" "1" "237777746" "237777746" "subst" "0" "02330" "RYR2_000901" "g.237777746A>G" "" "" "" "RYR2(NM_001035.3):c.5318A>G (p.N1773S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614446A>G" "" "VUS" "" "0000245598" "0" "50" "1" "237802338" "237802338" "subst" "8.12711E-6" "02330" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639038A>G" "" "VUS" "" "0000247874" "0" "30" "1" "237755076" "237755076" "subst" "0.0167403" "02325" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237591776A>G" "" "likely benign" "" "0000247875" "0" "30" "1" "237972189" "237972189" "subst" "0.00844084" "02325" "RYR2_001090" "g.237972189A>G" "" "" "" "RYR2(NM_001035.2):c.14299-12A>G, RYR2(NM_001035.3):c.14299-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808889A>G" "" "likely benign" "" "0000248060" "0" "30" "1" "237765314" "237765314" "del" "0" "02325" "RYR2_000891" "g.237765314del" "" "" "" "RYR2(NM_001035.2):c.4597-11delA, RYR2(NM_001035.3):c.4597-11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602014del" "" "likely benign" "" "0000248071" "0" "30" "1" "237880494" "237880494" "subst" "0.00189496" "02325" "RYR2_000020" "g.237880494A>G" "" "" "" "RYR2(NM_001035.2):c.10324-4A>G, RYR2(NM_001035.3):c.10324-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717194A>G" "" "likely benign" "" "0000248107" "0" "30" "1" "237778047" "237778047" "subst" "0.000330726" "02325" "RYR2_000909" "g.237778047A>G" "" "" "" "RYR2(NM_001035.2):c.5619A>G (p.A1873=), RYR2(NM_001035.3):c.5619A>G (p.A1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614747A>G" "" "likely benign" "" "0000248179" "0" "10" "1" "237841390" "237841390" "subst" "0.214321" "02325" "RYR2_000961" "g.237841390A>G" "" "" "" "RYR2(NM_001035.3):c.8873A>G (p.Q2958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237678090A>G" "" "benign" "" "0000248180" "0" "10" "1" "237957161" "237957161" "subst" "0.737568" "02325" "RYR2_001074" "g.237957161A>G" "" "" "" "RYR2(NM_001035.3):c.13783-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237793861A>G" "" "benign" "" "0000248280" "0" "30" "1" "237617677" "237617677" "subst" "4.54157E-6" "02325" "RYR2_000825" "g.237617677A>G" "" "" "" "RYR2(NM_001035.3):c.1293-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454377A>G" "" "likely benign" "" "0000248281" "0" "30" "1" "237994882" "237994882" "subst" "6.48609E-5" "02325" "RYR2_001106" "g.237994882A>C" "" "" "" "RYR2(NM_001035.3):c.14808+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831582A>C" "" "likely benign" "" "0000248350" "0" "10" "1" "237711797" "237711797" "subst" "0.932851" "02325" "RYR2_000863" "g.237711797A>G" "" "" "" "RYR2(NM_001035.3):c.2973A>G (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548497A>G" "" "benign" "" "0000248423" "0" "10" "1" "237540615" "237540615" "subst" "0.290523" "02325" "RYR2_000797" "g.237540615A>C" "" "" "" "RYR2(NM_001035.3):c.464-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377315A>C" "" "benign" "" "0000248424" "0" "10" "1" "237957309" "237957309" "subst" "0.731941" "02325" "RYR2_001075" "g.237957309A>C" "" "" "" "RYR2(NM_001035.3):c.13913+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237794009A>C" "" "benign" "" "0000248972" "0" "10" "1" "237619888" "237619889" "dup" "0" "02325" "RYR2_001136" "g.237619888_237619889dup" "" "" "" "RYR2(NM_001035.3):c.1477-10delAinsTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456588_237456589dup" "" "benign" "" "0000249298" "0" "30" "1" "237586561" "237586561" "subst" "0.000112563" "02325" "RYR2_000811" "g.237586561A>G" "" "" "" "RYR2(NM_001035.3):c.1005+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237423261A>G" "" "likely benign" "" "0000249311" "0" "30" "1" "237604651" "237604651" "subst" "4.06643E-6" "02325" "RYR2_000813" "g.237604651A>G" "" "" "" "RYR2(NM_001035.3):c.1038A>G (p.V346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441351A>G" "" "likely benign" "" "0000249312" "0" "30" "1" "237811787" "237811787" "subst" "9.54246E-5" "02325" "RYR2_000938" "g.237811787A>G" "" "" "" "RYR2(NM_001035.3):c.7386A>G (p.P2462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648487A>G" "" "likely benign" "" "0000249493" "0" "30" "1" "237538098" "237538098" "subst" "0" "02325" "RYR2_000796" "g.237538098A>G" "" "" "" "RYR2(NM_001035.3):c.463+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237374798A>G" "" "likely benign" "" "0000249494" "0" "30" "1" "237754299" "237754299" "subst" "7.15561E-5" "02325" "RYR2_000885" "g.237754299A>G" "" "" "" "RYR2(NM_001035.3):c.4160+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590999A>G" "" "likely benign" "" "0000249495" "0" "30" "1" "237789117" "237789117" "subst" "0" "02325" "RYR2_000912" "g.237789117A>G" "" "" "" "RYR2(NM_001035.3):c.6166+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237625817A>G" "" "likely benign" "" "0000249496" "0" "30" "1" "237791088" "237791088" "subst" "0" "02325" "RYR2_000913" "g.237791088A>G" "" "" "" "RYR2(NM_001035.3):c.6167-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237627788A>G" "" "likely benign" "" "0000249497" "0" "30" "1" "237823282" "237823282" "subst" "9.08534E-5" "02325" "RYR2_000949" "g.237823282A>G" "" "" "" "RYR2(NM_001035.3):c.8209-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237659982A>G" "" "likely benign" "" "0000249498" "0" "30" "1" "237829805" "237829805" "dup" "0" "02325" "RYR2_001110" "g.237829805dup" "" "" "" "RYR2(NM_001035.3):c.8437-6delAinsGA, RYR2(NM_001035.3):c.8437-7dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237666505dup" "" "likely benign" "" "0000249499" "0" "30" "1" "237935415" "237935415" "subst" "0" "02325" "RYR2_001029" "g.237935415A>G" "" "" "" "RYR2(NM_001035.3):c.11646+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237772115A>G" "" "likely benign" "" "0000249500" "0" "30" "1" "237951451" "237951451" "subst" "0" "02325" "RYR2_001065" "g.237951451A>C" "" "" "" "RYR2(NM_001035.3):c.13476+16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237788151A>C" "" "likely benign" "" "0000249737" "0" "50" "1" "237580357" "237580357" "subst" "8.12836E-6" "02325" "RYR2_000808" "g.237580357A>G" "" "" "" "RYR2(NM_001035.3):c.782A>G (p.H261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237417057A>G" "" "VUS" "" "0000249840" "0" "50" "1" "237995959" "237995959" "subst" "2.07624E-5" "02325" "RYR2_001109" "g.237995959A>G" "" "" "" "RYR2(NM_001035.3):c.*12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832659A>G" "" "VUS" "" "0000250656" "0" "10" "1" "237755076" "237755076" "subst" "0.0167403" "02326" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237591776A>G" "" "benign" "" "0000250657" "0" "10" "1" "237972189" "237972189" "subst" "0.00844084" "02326" "RYR2_001090" "g.237972189A>G" "" "" "" "RYR2(NM_001035.2):c.14299-12A>G, RYR2(NM_001035.3):c.14299-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808889A>G" "" "benign" "" "0000250675" "0" "10" "1" "237948286" "237948286" "subst" "0.00926908" "02326" "RYR2_001062" "g.237948286A>G" "" "" "" "RYR2(NM_001035.2):c.13260+14A>G, RYR2(NM_001035.3):c.13260+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784986A>G" "" "benign" "" "0000250742" "0" "10" "1" "237880494" "237880494" "subst" "0.00189496" "02326" "RYR2_000020" "g.237880494A>G" "" "" "" "RYR2(NM_001035.2):c.10324-4A>G, RYR2(NM_001035.3):c.10324-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717194A>G" "" "benign" "" "0000250882" "0" "10" "1" "237841390" "237841390" "subst" "0.214321" "02326" "RYR2_000961" "g.237841390A>G" "" "" "" "RYR2(NM_001035.3):c.8873A>G (p.Q2958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237678090A>G" "" "benign" "" "0000250883" "0" "10" "1" "237957161" "237957161" "subst" "0.737568" "02326" "RYR2_001074" "g.237957161A>G" "" "" "" "RYR2(NM_001035.3):c.13783-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237793861A>G" "" "benign" "" "0000250951" "0" "10" "1" "237655173" "237655173" "subst" "0.0201305" "02326" "RYR2_000838" "g.237655173A>T" "" "" "" "RYR2(NM_001035.3):c.1776A>T (p.G592=, p.(Gly592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237491873A>T" "" "benign" "" "0000250952" "0" "10" "1" "237777828" "237777828" "subst" "0.0191452" "02326" "RYR2_000903" "g.237777828A>G" "" "" "" "RYR2(NM_001035.3):c.5400A>G (p.K1800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614528A>G" "" "benign" "" "0000250974" "0" "10" "1" "237765314" "237765314" "del" "0" "02326" "RYR2_000890" "g.237765314del" "" "" "" "RYR2(NM_001035.2):c.4597-11delA, RYR2(NM_001035.3):c.4597-11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602014del" "" "benign" "" "0000251216" "0" "10" "1" "237817523" "237817523" "del" "0" "02326" "RYR2_000947" "g.237817523del" "" "" "" "RYR2(NM_001035.3):c.7825-51delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237654223del" "" "benign" "" "0000251217" "0" "10" "1" "237919418" "237919418" "del" "0" "02326" "RYR2_001019" "g.237919418del" "" "" "" "RYR2(NM_001035.3):c.11146-170delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237756118del" "" "benign" "" "0000251218" "0" "10" "1" "237955364" "237955364" "subst" "0.0439079" "02326" "RYR2_001067" "g.237955364A>G" "" "" "" "RYR2(NM_001035.3):c.13564-41A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792064A>G" "" "benign" "" "0000251726" "0" "30" "1" "237617677" "237617677" "subst" "4.54157E-6" "02326" "RYR2_000825" "g.237617677A>G" "" "" "" "RYR2(NM_001035.3):c.1293-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454377A>G" "" "likely benign" "" "0000251727" "0" "30" "1" "237994882" "237994882" "subst" "6.48609E-5" "02326" "RYR2_001106" "g.237994882A>C" "" "" "" "RYR2(NM_001035.3):c.14808+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831582A>C" "" "likely benign" "" "0000251759" "0" "30" "1" "237604723" "237604723" "subst" "0.000208338" "02326" "RYR2_000816" "g.237604723A>G" "" "" "" "RYR2(NM_001035.3):c.1110A>G (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441423A>G" "" "likely benign" "" "0000251893" "0" "30" "1" "237872278" "237872278" "subst" "0" "02326" "RYR2_000990" "g.237872278A>G" "" "" "" "RYR2(NM_001035.3):c.10022A>G (p.K3341R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708978A>G" "" "likely benign" "" "0000252014" "0" "30" "1" "237850821" "237850821" "subst" "0" "02326" "RYR2_000968" "g.237850821A>C" "" "" "" "RYR2(NM_001035.3):c.9067+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687521A>C" "" "likely benign" "" "0000252015" "0" "30" "1" "237862350" "237862350" "subst" "0" "02326" "RYR2_000970" "g.237862350A>T" "" "" "" "RYR2(NM_001035.3):c.9128+25A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237699050A>T" "" "likely benign" "" "0000252016" "0" "30" "1" "237905587" "237905587" "subst" "0" "02326" "RYR2_001016" "g.237905587A>T" "" "" "" "RYR2(NM_001035.3):c.11092-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742287A>T" "" "likely benign" "" "0000252017" "0" "30" "1" "237919418" "237919418" "subst" "0" "02326" "RYR2_001020" "g.237919418A>C" "" "" "" "RYR2(NM_001035.3):c.11146-170A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237756118A>C" "" "likely benign" "" "0000252018" "0" "30" "1" "237969595" "237969595" "subst" "0" "02326" "RYR2_001089" "g.237969595A>G" "" "" "" "RYR2(NM_001035.3):c.14298+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237806295A>G" "" "likely benign" "" "0000252689" "0" "50" "1" "237550653" "237550653" "subst" "0.000158481" "02326" "RYR2_000801" "g.237550653A>G" "" "" "" "RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237387353A>G" "" "VUS" "" "0000252791" "0" "50" "1" "237837426" "237837426" "subst" "0" "02326" "RYR2_000956" "g.237837426A>G" "" "" "" "RYR2(NM_001035.3):c.8621A>G (p.Y2874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674126A>G" "" "VUS" "" "0000253008" "0" "10" "1" "237755076" "237755076" "subst" "0.0167403" "01943" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237591776A>G" "" "benign" "" "0000253009" "0" "10" "1" "237972189" "237972189" "subst" "0.00844084" "01943" "RYR2_001090" "g.237972189A>G" "" "" "" "RYR2(NM_001035.2):c.14299-12A>G, RYR2(NM_001035.3):c.14299-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808889A>G" "" "benign" "" "0000253027" "0" "10" "1" "237948286" "237948286" "subst" "0.00926908" "01943" "RYR2_001062" "g.237948286A>G" "" "" "" "RYR2(NM_001035.2):c.13260+14A>G, RYR2(NM_001035.3):c.13260+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784986A>G" "" "benign" "" "0000253321" "0" "10" "1" "237765314" "237765314" "del" "0" "01943" "RYR2_000891" "g.237765314del" "" "" "" "RYR2(NM_001035.2):c.4597-11delA, RYR2(NM_001035.3):c.4597-11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602014del" "" "benign" "" "0000253394" "0" "10" "1" "237806763" "237806763" "subst" "0.00477301" "01943" "RYR2_000936" "g.237806763A>G" "" "" "" "RYR2(NM_001035.2):c.7342+16A>G, RYR2(NM_001035.3):c.7342+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237643463A>G" "" "benign" "" "0000253395" "0" "10" "1" "237872762" "237872762" "subst" "0.0171871" "01943" "RYR2_000992" "g.237872762A>G" "" "" "" "RYR2(NM_001035.2):c.10143-18A>G, RYR2(NM_001035.3):c.10143-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237709462A>G" "" "benign" "" "0000253699" "0" "10" "1" "237604666" "237604666" "subst" "0.00124458" "01943" "RYR2_000814" "g.237604666A>G" "" "" "" "RYR2(NM_001035.2):c.1053A>G (p.T351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441366A>G" "" "benign" "" "0000253961" "0" "30" "1" "237880494" "237880494" "subst" "0.00189496" "01943" "RYR2_000020" "g.237880494A>G" "" "" "" "RYR2(NM_001035.2):c.10324-4A>G, RYR2(NM_001035.3):c.10324-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717194A>G" "" "likely benign" "" "0000254097" "0" "30" "1" "237778047" "237778047" "subst" "0.000330726" "01943" "RYR2_000909" "g.237778047A>G" "" "" "" "RYR2(NM_001035.2):c.5619A>G (p.A1873=), RYR2(NM_001035.3):c.5619A>G (p.A1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614747A>G" "" "likely benign" "" "0000254168" "0" "30" "1" "237994795" "237994795" "subst" "0.000580779" "01943" "RYR2_001102" "g.237994795A>G" "" "" "" "RYR2(NM_001035.2):c.14757-19A>G, RYR2(NM_001035.3):c.14757-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831495A>G" "" "likely benign" "" "0000255046" "0" "30" "1" "237753223" "237753223" "subst" "0.000146331" "01943" "RYR2_000879" "g.237753223A>C" "" "" "" "RYR2(NM_001035.2):c.3729A>C (p.T1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589923A>C" "" "likely benign" "" "0000255606" "0" "90" "1" "237777763" "237777763" "subst" "0" "01943" "RYR2_000902" "g.237777763A>G" "" "" "" "RYR2(NM_001035.2):c.5335A>G (p.S1779G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614463A>G" "" "pathogenic" "" "0000255885" "0" "50" "1" "237947248" "237947248" "subst" "8.1829E-6" "01943" "RYR2_001049" "g.237947248A>G" "" "" "" "RYR2(NM_001035.2):c.12236A>G (p.D4079G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783948A>G" "" "VUS" "" "0000256672" "0" "50" "1" "237961350" "237961350" "subst" "0" "01943" "RYR2_001077" "g.237961350A>T" "" "" "" "RYR2(NM_001035.2):c.13970A>T (p.Y4657F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798050A>T" "" "VUS" "" "0000295092" "0" "10" "1" "237872273" "237872273" "subst" "0.000118021" "02330" "RYR2_000989" "g.237872273C>T" "" "" "" "RYR2(NM_001035.2):c.10017C>T (p.H3339=), RYR2(NM_001035.3):c.10017C>T (p.H3339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708973C>T" "" "benign" "" "0000295093" "0" "70" "1" "237604616" "237604616" "subst" "0" "02330" "RYR2_000812" "g.237604616T>G" "" "" "" "RYR2(NM_001035.3):c.1006-3T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441316T>G" "" "likely pathogenic" "" "0000295094" "0" "10" "1" "237872858" "237872858" "subst" "8.41439E-5" "02330" "RYR2_000994" "g.237872858G>A" "" "" "" "RYR2(NM_001035.3):c.10221G>A (p.S3407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237709558G>A" "" "benign" "" "0000295095" "0" "10" "1" "237875068" "237875068" "subst" "0.00301169" "02330" "RYR2_000996" "g.237875068C>T" "" "" "" "RYR2(NM_001035.2):c.10254C>T (p.N3418=), RYR2(NM_001035.3):c.10254C>T (p.N3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237711768C>T" "" "benign" "" "0000295096" "0" "10" "1" "237880626" "237880626" "subst" "3.68599E-5" "02330" "RYR2_000998" "g.237880626G>T" "" "" "" "RYR2(NM_001035.3):c.10452G>T (p.G3484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717326G>T" "" "benign" "" "0000295097" "0" "10" "1" "237881770" "237881770" "subst" "0.990616" "02330" "RYR2_000999" "g.237881770C>T" "" "" "" "RYR2(NM_001035.3):c.10503C>T (p.T3501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237718470C>T" "" "benign" "" "0000295098" "0" "10" "1" "237881837" "237881837" "subst" "0.00017994" "02330" "RYR2_001001" "g.237881837T>C" "" "" "" "RYR2(NM_001035.3):c.10554+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237718537T>C" "" "benign" "" "0000295099" "0" "50" "1" "237886554" "237886554" "subst" "8.14558E-6" "02330" "RYR2_000021" "g.237886554C>G" "" "" "" "RYR2(NM_001035.2):c.10681C>G (p.(Leu3561Val)), RYR2(NM_001035.3):c.10681C>G (p.L3561V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237723254C>G" "" "VUS" "" "0000295100" "0" "10" "1" "237890437" "237890437" "subst" "0.990652" "02330" "RYR2_001004" "g.237890437C>T" "" "" "" "RYR2(NM_001035.3):c.10776C>T (p.S3592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237727137C>T" "" "benign" "" "0000295101" "0" "50" "1" "237604694" "237604694" "subst" "0" "02330" "RYR2_000815" "g.237604694T>C" "" "" "" "RYR2(NM_001035.3):c.1081T>C (p.C361R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441394T>C" "" "VUS" "" "0000295102" "0" "10" "1" "237893674" "237893674" "subst" "0.99621" "02330" "RYR2_001007" "g.237893674C>T" "" "" "" "RYR2(NM_001035.3):c.10935+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237730374C>T" "" "benign" "" "0000295103" "0" "10" "1" "237895351" "237895351" "subst" "0.000467282" "02330" "RYR2_001010" "g.237895351T>G" "" "" "" "RYR2(NM_001035.2):c.10941T>G (p.P3647=), RYR2(NM_001035.3):c.10941T>G (p.P3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237732051T>G" "" "benign" "" "0000295104" "0" "50" "1" "237897049" "237897049" "subst" "0" "02330" "RYR2_001012" "g.237897049T>C" "" "" "" "RYR2(NM_001035.3):c.11084T>C (p.M3695T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237733749T>C" "" "VUS" "" "0000295105" "0" "10" "1" "237905619" "237905619" "subst" "9.88034E-5" "02330" "RYR2_001017" "g.237905619C>T" "" "" "" "RYR2(NM_001035.3):c.11115C>T (p.D3705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742319C>T" "" "benign" "" "0000295106" "0" "50" "1" "237905644" "237905644" "subst" "0" "02330" "RYR2_001018" "g.237905644T>G" "" "" "" "RYR2(NM_001035.3):c.11140T>G (p.F3714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742344T>G" "" "VUS" "" "0000295107" "0" "50" "1" "237604757" "237604757" "subst" "7.12501E-5" "02330" "RYR2_000819" "g.237604757G>A" "" "" "" "RYR2(NM_001035.3):c.1144G>A (p.V382M, p.(Val382Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441457G>A" "" "VUS" "" "0000295108" "0" "10" "1" "237934206" "237934206" "subst" "0.0177073" "02330" "RYR2_001027" "g.237934206C>T" "" "" "" "RYR2(NM_001035.2):c.11557+19C>T, RYR2(NM_001035.3):c.11557+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237770906C>T" "" "benign" "" "0000295109" "0" "10" "1" "237604793" "237604793" "subst" "1.10032E-5" "02330" "RYR2_000820" "g.237604793T>C" "" "" "" "RYR2(NM_001035.3):c.1170+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441493T>C" "" "benign" "" "0000295110" "0" "70" "1" "237936919" "237936919" "subst" "0" "02330" "RYR2_001030" "g.237936919G>T" "" "" "" "RYR2(NM_001035.3):c.11746G>T (p.V3916F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237773619G>T" "" "likely pathogenic" "" "0000295111" "0" "10" "1" "237936939" "237936939" "subst" "4.4989E-5" "02330" "RYR2_001031" "g.237936939G>A" "" "" "" "RYR2(NM_001035.2):c.11766G>A (p.E3922=), RYR2(NM_001035.3):c.11766G>A (p.E3922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237773639G>A" "" "benign" "" "0000295112" "0" "10" "1" "237942025" "237942025" "subst" "0.00206812" "02330" "RYR2_001036" "g.237942025C>T" "" "" "" "RYR2(NM_001035.2):c.11835C>T (p.V3945=), RYR2(NM_001035.3):c.11835C>T (p.V3945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778725C>T" "" "benign" "" "0000295113" "0" "10" "1" "237942083" "237942086" "del" "0.0111" "02330" "RYR2_001037" "g.237942083_237942086del" "" "" "" "RYR2(NM_001035.3):c.11880+13_11880+16delACTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778783_237778786del" "" "benign" "" "0000295114" "0" "10" "1" "237946964" "237946964" "subst" "0.382176" "02330" "RYR2_001040" "g.237946964T>C" "" "" "" "RYR2(NM_001035.3):c.11963-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783664T>C" "" "benign" "" "0000295115" "0" "10" "1" "237947000" "237947000" "subst" "0.0116749" "02330" "RYR2_001042" "g.237947000C>T" "" "" "" "RYR2(NM_001035.2):c.11988C>T (p.G3996=), RYR2(NM_001035.3):c.11988C>T (p.G3996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783700C>T" "" "benign" "" "0000295116" "0" "10" "1" "237947171" "237947171" "subst" "0.000938056" "02330" "RYR2_001046" "g.237947171G>A" "" "" "" "RYR2(NM_001035.2):c.12159G>A (p.E4053=), RYR2(NM_001035.3):c.12159G>A (p.E4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783871G>A" "" "benign" "" "0000295117" "0" "10" "1" "237947201" "237947201" "subst" "2.04576E-5" "02330" "RYR2_001047" "g.237947201G>A" "" "" "" "RYR2(NM_001035.2):c.12189G>A (p.T4063=), RYR2(NM_001035.3):c.12189G>A (p.T4063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783901G>A" "" "benign" "" "0000295118" "0" "10" "1" "237608748" "237608748" "subst" "0.000618022" "02330" "RYR2_000821" "g.237608748G>A" "" "" "" "RYR2(NM_001035.2):c.1218G>A (p.S406=), RYR2(NM_001035.3):c.1218G>A (p.S406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445448G>A" "" "benign" "" "0000295119" "0" "10" "1" "237947219" "237947219" "subst" "1.22876E-5" "02330" "RYR2_001048" "g.237947219T>C" "" "" "" "RYR2(NM_001035.2):c.12207T>C (p.C4069=), RYR2(NM_001035.3):c.12207T>C (p.C4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783919T>C" "" "benign" "" "0000295120" "0" "50" "1" "237947377" "237947377" "subst" "0" "02330" "RYR2_001051" "g.237947377C>T" "" "" "" "RYR2(NM_001035.3):c.12365C>T (p.A4122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784077C>T" "" "VUS" "" "0000295121" "0" "50" "1" "237608771" "237608771" "subst" "8.13279E-6" "02330" "RYR2_000822" "g.237608771G>A" "" "" "" "RYR2(NM_001035.2):c.1241G>A (p.R414H), RYR2(NM_001035.3):c.1241G>A (p.R414H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445471G>A" "" "VUS" "" "0000295122" "0" "90" "1" "237608788" "237608788" "subst" "4.06623E-6" "02330" "RYR2_000752" "g.237608788C>T" "" "" "" "RYR2(NM_001035.3):c.1258C>T (p.R420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445488C>T" "" "pathogenic" "" "0000295123" "0" "70" "1" "237947632" "237947632" "subst" "0" "02330" "RYR2_001054" "g.237947632C>T" "" "" "" "RYR2(NM_001035.2):c.12620C>T (p.S4207L), RYR2(NM_001035.3):c.12620C>T (p.S4207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784332C>T" "" "likely pathogenic" "" "0000295124" "0" "10" "1" "237947717" "237947717" "subst" "0.000371304" "02330" "RYR2_001055" "g.237947717C>T" "" "" "" "RYR2(NM_001035.2):c.12705C>T (p.F4235=), RYR2(NM_001035.3):c.12705C>T (p.F4235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784417C>T" "" "benign" "" "0000295125" "0" "10" "1" "237608842" "237608842" "subst" "0.00818309" "02330" "RYR2_000824" "g.237608842C>T" "" "" "" "RYR2(NM_001035.2):c.1292+20C>T, RYR2(NM_001035.3):c.1292+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445542C>T" "" "benign" "" "0000295126" "0" "10" "1" "237948056" "237948056" "subst" "3.78266E-5" "02330" "RYR2_001058" "g.237948056G>A" "" "" "" "RYR2(NM_001035.3):c.13044G>A (p.E4348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784756G>A" "" "benign" "" "0000295127" "0" "30" "1" "237948242" "237948247" "del" "0" "02330" "RYR2_001061" "g.237948242_237948247del" "" "" "" "RYR2(NM_001035.3):c.13230_13235delCCCCAT (p.M4412_P4413del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784942_237784947del" "" "likely benign" "" "0000295128" "0" "30" "1" "237617733" "237617733" "subst" "4.49497E-5" "02330" "RYR2_000828" "g.237617733C>T" "" "" "" "RYR2(NM_001035.3):c.1335C>T (p.V445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454433C>T" "" "likely benign" "" "0000295129" "0" "90" "1" "237954780" "237954780" "subst" "0" "02330" "RYR2_001066" "g.237954780G>A" "" "" "" "RYR2(NM_001035.3):c.13528G>A (p.A4510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237791480G>A" "" "pathogenic" "" "0000295130" "0" "10" "1" "237617757" "237617757" "subst" "0.581893" "02330" "RYR2_000829" "g.237617757C>T" "" "" "" "RYR2(NM_001035.3):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454457C>T" "" "benign" "" "0000295131" "0" "50" "1" "237955441" "237955441" "subst" "4.26931E-5" "02330" "RYR2_001070" "g.237955441C>T" "" "" "" "RYR2(NM_001035.3):c.13600C>T (p.P4534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792141C>T" "" "VUS" "" "0000295132" "0" "10" "1" "237955536" "237955536" "subst" "5.69522E-5" "02330" "RYR2_001072" "g.237955536C>T" "" "" "" "RYR2(NM_001035.3):c.13695C>T (p.S4565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792236C>T" "" "benign" "" "0000295133" "0" "10" "1" "237955581" "237955581" "subst" "0.000911" "02330" "RYR2_001073" "g.237955581G>A" "" "" "" "RYR2(NM_001035.2):c.13740G>A (p.T4580=), RYR2(NM_001035.3):c.13740G>A (p.T4580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792281G>A" "" "benign" "" "0000295134" "0" "10" "1" "237961357" "237961357" "subst" "0.00238381" "02330" "RYR2_001078" "g.237961357G>A" "" "" "" "RYR2(NM_001035.3):c.13977G>A (p.E4659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798057G>A" "" "benign" "" "0000295135" "0" "10" "1" "237961363" "237961363" "subst" "0.00224573" "02330" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798063C>T" "" "benign" "" "0000295136" "0" "10" "1" "237961409" "237961409" "subst" "0.00103133" "02330" "RYR2_001080" "g.237961409C>T" "" "" "" "RYR2(NM_001035.2):c.14029C>T (p.L4677=), RYR2(NM_001035.3):c.14029C>T (p.L4677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798109C>T" "" "benign" "" "0000295139" "0" "10" "1" "237969502" "237969502" "del" "0" "02330" "RYR2_001088" "g.237969502del" "" "" "" "RYR2(NM_001035.3):c.14217delT (p.F4739Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237806202del" "" "benign" "" "0000295140" "0" "50" "1" "237972289" "237972289" "subst" "0" "02330" "RYR2_001092" "g.237972289G>A" "" "" "" "RYR2(NM_001035.3):c.14387G>A (p.S4796N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808989G>A" "" "VUS" "" "0000295141" "0" "10" "1" "237972323" "237972323" "subst" "0.00409342" "02330" "RYR2_001093" "g.237972323C>T" "" "" "" "RYR2(NM_001035.3):c.14421C>T (p.D4807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237809023C>T" "" "benign" "" "0000295142" "0" "10" "1" "237982383" "237982383" "subst" "0.000954749" "02330" "RYR2_001094" "g.237982383C>A" "" "" "" "RYR2(NM_001035.2):c.14481C>A (p.I4827=), RYR2(NM_001035.3):c.14481C>A (p.I4827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819083C>A" "" "benign" "" "0000295143" "0" "10" "1" "237982383" "237982383" "subst" "0.0022914" "02330" "RYR2_001095" "g.237982383C>T" "" "" "" "RYR2(NM_001035.3):c.14481C>T (p.I4827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819083C>T" "" "benign" "" "0000295144" "0" "10" "1" "237982501" "237982501" "subst" "0" "02330" "RYR2_001097" "g.237982501C>A" "" "" "" "RYR2(NM_001035.3):c.14590+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819201C>A" "" "benign" "" "0000295145" "0" "10" "1" "237993942" "237993942" "subst" "0.00334782" "02330" "RYR2_001101" "g.237993942C>T" "" "" "" "RYR2(NM_001035.2):c.14756+12C>T, RYR2(NM_001035.3):c.14756+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237830642C>T" "" "benign" "" "0000295146" "0" "10" "1" "237995837" "237995837" "subst" "0.00545634" "02330" "RYR2_001108" "g.237995837C>G" "" "" "" "RYR2(NM_001035.2):c.14809-15C>G, RYR2(NM_001035.3):c.14809-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832537C>G" "" "benign" "" "0000295147" "0" "10" "1" "237995832" "237995832" "subst" "0.00401194" "02330" "RYR2_001107" "g.237995832C>T" "" "" "" "RYR2(NM_001035.2):c.14809-20C>T, RYR2(NM_001035.3):c.14809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832532C>T" "" "benign" "" "0000295148" "0" "10" "1" "237619942" "237619942" "subst" "0.0035864" "02330" "RYR2_000112" "g.237619942G>A" "" "" "" "RYR2(NM_001035.2):c.1519G>A (p.V507I), RYR2(NM_001035.3):c.1519G>A (p.V507I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456642G>A" "" "benign" "" "0000295149" "0" "10" "1" "237619971" "237619971" "subst" "0.000460068" "02330" "RYR2_000833" "g.237619971T>C" "" "" "" "RYR2(NM_001035.2):c.1548T>C (p.D516=), RYR2(NM_001035.3):c.1548T>C (p.D516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456671T>C" "" "benign" "" "0000295150" "0" "50" "1" "237619997" "237619997" "subst" "1.22138E-5" "02330" "RYR2_000834" "g.237619997C>G" "" "" "" "RYR2(NM_001035.3):c.1574C>G (p.S525C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456697C>G" "" "VUS" "" "0000295151" "0" "10" "1" "237620034" "237620034" "subst" "0.0140417" "02330" "RYR2_000836" "g.237620034G>A" "" "" "" "RYR2(NM_001035.2):c.1611G>A (p.L537=), RYR2(NM_001035.3):c.1611G>A (p.L537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456734G>A" "" "benign" "" "0000295152" "0" "10" "1" "237620049" "237620049" "subst" "0.556735" "02330" "RYR2_000837" "g.237620049T>C" "" "" "" "RYR2(NM_001035.3):c.1612+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456749T>C" "" "benign" "" "0000295153" "0" "10" "1" "237656289" "237656289" "subst" "0.00469025" "02330" "RYR2_000839" "g.237656289C>T" "" "" "" "RYR2(NM_001035.2):c.1863C>T (p.H621=), RYR2(NM_001035.3):c.1863C>T (p.H621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237492989C>T" "" "benign" "" "0000295154" "0" "50" "1" "237656310" "237656310" "subst" "0" "02330" "RYR2_000840" "g.237656310C>G" "" "" "" "RYR2(NM_001035.3):c.1884C>G (p.N628K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237493010C>G" "" "VUS" "" "0000295155" "0" "50" "1" "237659825" "237659825" "subst" "8.13762E-6" "02330" "RYR2_000841" "g.237659825T>G" "" "" "" "RYR2(NM_001035.3):c.1976T>G (p.I659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237496525T>G" "" "VUS" "" "0000295156" "0" "30" "1" "237659836" "237659836" "subst" "3.25388E-5" "02330" "RYR2_000842" "g.237659836G>A" "" "" "" "RYR2(NM_001035.2):c.1987G>A (p.V663I), RYR2(NM_001035.3):c.1987G>A (p.V663I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237496536G>A" "" "likely benign" "" "0000295157" "0" "50" "1" "237659899" "237659899" "subst" "0" "02330" "RYR2_000844" "g.237659899C>A" "" "" "" "RYR2(NM_001035.2):c.2050C>A (p.P684T), RYR2(NM_001035.3):c.2050C>A (p.P684T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237496599C>A" "" "VUS" "" "0000295159" "0" "10" "1" "237664004" "237664004" "subst" "0.00964533" "02330" "RYR2_000847" "g.237664004C>G" "" "" "" "RYR2(NM_001035.2):c.2204-7C>G (p.(=)), RYR2(NM_001035.3):c.2204-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500704C>G" "" "benign" "" "0000295160" "0" "10" "1" "237664108" "237664108" "subst" "0.00240443" "02330" "RYR2_000849" "g.237664108G>T" "" "" "" "RYR2(NM_001035.2):c.2301G>T (p.S767=), RYR2(NM_001035.3):c.2301G>T (p.S767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500808G>T" "" "benign" "" "0000295161" "0" "10" "1" "237666583" "237666583" "subst" "0.00379094" "02330" "RYR2_000851" "g.237666583C>T" "" "" "" "RYR2(NM_001035.2):c.2397-6C>T, RYR2(NM_001035.3):c.2397-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503283C>T" "" "benign" "" "0000295162" "0" "10" "1" "237666649" "237666649" "subst" "0" "02330" "RYR2_000854" "g.237666649T>C" "" "" "" "RYR2(NM_001035.3):c.2457T>C (p.Y819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503349T>C" "" "benign" "" "0000295163" "0" "10" "1" "237494291" "237494291" "subst" "4.06299E-5" "02330" "RYR2_000792" "g.237494291C>T" "" "" "" "RYR2(NM_001035.3):c.273+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237330991C>T" "" "benign" "" "0000295164" "0" "10" "1" "237675029" "237675029" "subst" "0.00156191" "02330" "RYR2_000860" "g.237675029G>A" "" "" "" "RYR2(NM_001035.2):c.2760G>A (p.E920=), RYR2(NM_001035.3):c.2760G>A (p.E920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237511729G>A" "" "benign" "" "0000295165" "0" "10" "1" "237675041" "237675041" "subst" "0" "02330" "RYR2_000861" "g.237675041G>A" "" "" "" "RYR2(NM_001035.2):c.2772G>A (p.L924=), RYR2(NM_001035.3):c.2772G>A (p.L924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237511741G>A" "" "benign" "" "0000295167" "0" "10" "1" "237711848" "237711848" "subst" "0.000170612" "02330" "RYR2_000864" "g.237711848G>A" "" "" "" "RYR2(NM_001035.3):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548548G>A" "" "benign" "" "0000295168" "0" "30" "1" "237711862" "237711862" "subst" "0.000450974" "02330" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548562G>A" "" "likely benign" "" "0000295169" "0" "50" "1" "237713928" "237713928" "subst" "9.72517E-5" "02330" "RYR2_000024" "g.237713928C>T" "" "" "" "RYR2(NM_001035.3):c.3151C>T (p.R1051C, p.(Arg1051Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550628C>T" "" "VUS" "" "0000295170" "0" "50" "1" "237713958" "237713958" "subst" "0" "02330" "RYR2_000870" "g.237713958G>A" "" "" "" "RYR2(NM_001035.2):c.3181G>A (p.G1061S), RYR2(NM_001035.3):c.3181G>A (p.G1061S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550658G>A" "" "VUS" "" "0000295171" "0" "10" "1" "237729922" "237729922" "subst" "4.06554E-6" "02330" "RYR2_000871" "g.237729922C>T" "" "" "" "RYR2(NM_001035.2):c.3270C>T (p.A1090=), RYR2(NM_001035.3):c.3270C>T (p.A1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566622C>T" "" "benign" "" "0000295172" "0" "50" "1" "237730008" "237730008" "subst" "0.000158427" "02330" "RYR2_000872" "g.237730008G>A" "" "" "" "RYR2(NM_001035.3):c.3356G>A (p.R1119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566708G>A" "" "VUS" "" "0000295173" "0" "10" "1" "237730059" "237730059" "subst" "0.00685678" "02330" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566759C>T" "" "benign" "" "0000295174" "0" "10" "1" "237753084" "237753084" "del" "0" "02330" "RYR2_000874" "g.237753084del" "" "" "" "RYR2(NM_001035.3):c.3599-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589784del" "" "benign" "" "0000295175" "0" "70" "1" "237532889" "237532889" "subst" "0" "02330" "RYR2_000795" "g.237532889G>A" "" "" "" "RYR2(NM_001035.3):c.365G>A (p.R122H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237369589G>A" "" "likely pathogenic" "" "0000295176" "0" "50" "1" "237754040" "237754040" "subst" "4.07734E-6" "02330" "RYR2_000882" "g.237754040G>A" "" "" "" "RYR2(NM_001035.3):c.3908G>A (p.R1303H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590740G>A" "" "VUS" "" "0000295177" "0" "10" "1" "237765333" "237765333" "subst" "0.00321094" "02330" "RYR2_000892" "g.237765333G>A" "" "" "" "RYR2(NM_001035.2):c.4605G>A (p.P1535=), RYR2(NM_001035.3):c.4605G>A (p.P1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602033G>A" "" "benign" "" "0000295178" "0" "10" "1" "237774051" "237774051" "subst" "0.015928" "02330" "RYR2_000893" "g.237774051C>T" "" "" "" "RYR2(NM_001035.3):c.4684-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610751C>T" "" "benign" "" "0000295179" "0" "10" "1" "237774057" "237774057" "subst" "0.00368563" "02330" "RYR2_000894" "g.237774057G>C" "" "" "" "RYR2(NM_001035.2):c.4684-5G>C, RYR2(NM_001035.3):c.4684-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610757G>C" "" "benign" "" "0000295180" "0" "10" "1" "237777417" "237777417" "subst" "0.00063042" "02330" "RYR2_000898" "g.237777417C>T" "" "" "" "RYR2(NM_001035.2):c.4989C>T (p.A1663=), RYR2(NM_001035.3):c.4989C>T (p.A1663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614117C>T" "" "benign" "" "0000295181" "0" "10" "1" "237777582" "237777582" "subst" "0.000967661" "02330" "RYR2_000900" "g.237777582G>A" "" "" "" "RYR2(NM_001035.3):c.5154G>A (p.R1718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614282G>A" "" "benign" "" "0000295182" "0" "10" "1" "237777882" "237777882" "subst" "8.55272E-5" "02330" "RYR2_000904" "g.237777882T>C" "" "" "" "RYR2(NM_001035.3):c.5454T>C (p.F1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614582T>C" "" "benign" "" "0000295183" "0" "10" "1" "237777978" "237777978" "subst" "1.22225E-5" "02330" "RYR2_000906" "g.237777978G>A" "" "" "" "RYR2(NM_001035.3):c.5550G>A (p.V1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614678G>A" "" "benign" "" "0000295184" "0" "10" "1" "237778014" "237778014" "subst" "0.000990567" "02330" "RYR2_000907" "g.237778014C>T" "" "" "" "RYR2(NM_001035.2):c.5586C>T (p.D1862=), RYR2(NM_001035.3):c.5586C>T (p.D1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614714C>T" "" "benign" "" "0000295185" "0" "10" "1" "237778041" "237778041" "subst" "0.000649229" "02330" "RYR2_000908" "g.237778041C>T" "" "" "" "RYR2(NM_001035.2):c.5613C>T (p.D1871=), RYR2(NM_001035.3):c.5613C>T (p.D1871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614741C>T" "" "benign" "" "0000295186" "0" "10" "1" "237778082" "237778082" "subst" "0.0155991" "02330" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614782G>A" "" "benign" "" "0000295187" "0" "10" "1" "237778084" "237778084" "subst" "0.0404671" "02330" "RYR2_000300" "g.237778084G>A" "" "" "" "RYR2(NM_001035.3):c.5656G>A (p.G1886S, p.(Gly1886Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614784G>A" "" "benign" "" "0000295188" "0" "50" "1" "237791143" "237791143" "subst" "8.21342E-6" "02330" "RYR2_000915" "g.237791143G>A" "" "" "" "RYR2(NM_001035.3):c.6203G>A (p.R2068Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237627843G>A" "" "VUS" "" "0000295189" "0" "10" "1" "237794708" "237794708" "subst" "0.00264809" "02330" "RYR2_000919" "g.237794708C>T" "" "" "" "RYR2(NM_001035.2):c.6441-19C>T, RYR2(NM_001035.3):c.6441-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631408C>T" "" "benign" "" "0000295190" "0" "50" "1" "237794818" "237794818" "subst" "0" "02330" "RYR2_000921" "g.237794818G>A" "" "" "" "RYR2(NM_001035.3):c.6532G>A (p.V2178I, p.(Val2178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631518G>A" "" "VUS" "" "0000295191" "0" "10" "1" "237551376" "237551376" "subst" "0.575089" "02330" "RYR2_000803" "g.237551376T>A" "" "" "" "RYR2(NM_001035.3):c.677-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237388076T>A" "" "benign" "" "0000295192" "0" "10" "1" "237801770" "237801770" "subst" "0.990642" "02330" "RYR2_000925" "g.237801770T>C" "" "" "" "RYR2(NM_001035.3):c.6906T>C (p.L2302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638470T>C" "" "benign" "" "0000295193" "0" "10" "1" "237801796" "237801796" "subst" "0.00367112" "02330" "RYR2_000926" "g.237801796G>A" "" "" "" "RYR2(NM_001035.2):c.6928+4G>A, RYR2(NM_001035.3):c.6928+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638496G>A" "" "benign" "" "0000295194" "0" "10" "1" "237802457" "237802457" "subst" "0" "02330" "RYR2_000929" "g.237802457T>C" "" "" "" "RYR2(NM_001035.3):c.7071T>C (p.P2357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639157T>C" "" "benign" "" "0000295195" "0" "10" "1" "237804242" "237804242" "subst" "0.00032158" "02330" "RYR2_000932" "g.237804242G>A" "" "" "" "RYR2(NM_001035.3):c.7161G>A (p.A2387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237640942G>A" "" "benign" "" "0000295196" "0" "70" "1" "237804283" "237804283" "subst" "0" "02330" "RYR2_000933" "g.237804283G>T" "" "" "" "RYR2(NM_001035.3):c.7202G>T (p.R2401L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237640983G>T" "" "likely pathogenic" "" "0000295197" "0" "70" "1" "237551434" "237551434" "subst" "0" "02330" "RYR2_000805" "g.237551434G>C" "" "" "" "RYR2(NM_001035.3):c.724G>C (p.D242H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237388134G>C" "" "likely pathogenic" "" "0000295198" "0" "70" "1" "237806708" "237806708" "subst" "8.12387E-6" "02330" "RYR2_000935" "g.237806708G>T" "" "" "" "RYR2(NM_001035.3):c.7303G>T (p.V2435F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237643408G>T" "" "likely pathogenic" "" "0000295199" "0" "10" "1" "237811766" "237811766" "subst" "0.00401341" "02330" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648466C>T" "" "benign" "" "0000295200" "0" "10" "1" "237811889" "237811889" "subst" "0.00385759" "02330" "RYR2_000939" "g.237811889C>T" "" "" "" "RYR2(NM_001035.2):c.7488C>T (p.L2496=), RYR2(NM_001035.3):c.7488C>T (p.L2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648589C>T" "" "benign" "" "0000295201" "0" "10" "1" "237811927" "237811927" "subst" "0" "02330" "RYR2_000940" "g.237811927G>T" "" "" "" "RYR2(NM_001035.3):c.7512+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648627G>T" "" "benign" "" "0000295202" "0" "10" "1" "237813206" "237813206" "subst" "0.000227489" "02330" "RYR2_000941" "g.237813206G>A" "" "" "" "RYR2(NM_001035.3):c.7542G>A (p.L2514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237649906G>A" "" "benign" "" "0000295204" "0" "10" "1" "237814783" "237814783" "subst" "0.475459" "02330" "RYR2_000945" "g.237814783C>T" "" "" "" "RYR2(NM_001035.3):c.7806C>T (p.H2602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237651483C>T" "" "benign" "" "0000295205" "0" "10" "1" "237814821" "237814821" "subst" "0.000233282" "02330" "RYR2_000946" "g.237814821G>A" "" "" "" "RYR2(NM_001035.3):c.7824+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237651521G>A" "" "benign" "" "0000295206" "0" "50" "1" "237821259" "237821259" "subst" "0.000138143" "02330" "RYR2_000948" "g.237821259G>T" "" "" "" "RYR2(NM_001035.2):c.8145G>T (p.E2715D), RYR2(NM_001035.3):c.8145G>T (p.E2715D, p.(Glu2715Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237657959G>T" "" "VUS" "" "0000295207" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "02330" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237657976T>C" "" "likely benign" "" "0000295209" "0" "10" "1" "237829823" "237829823" "subst" "0.0106831" "02330" "RYR2_000953" "g.237829823C>T" "" "" "" "RYR2(NM_001035.2):c.8448C>T (p.D2816=), RYR2(NM_001035.3):c.8448C>T (p.D2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237666523C>T" "" "benign" "" "0000295210" "0" "30" "1" "237843758" "237843758" "subst" "0" "02330" "RYR2_000962" "g.237843758C>T" "" "" "" "RYR2(NM_001035.3):c.8898C>T (p.V2966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237680458C>T" "" "likely benign" "" "0000295211" "0" "50" "1" "237586435" "237586435" "subst" "8.9468E-5" "02330" "RYR2_000809" "g.237586435C>T" "" "" "" "RYR2(NM_001035.3):c.892C>T (p.R298C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237423135C>T" "" "VUS" "" "0000295212" "0" "10" "1" "237850816" "237850816" "subst" "0.00147556" "02330" "RYR2_000967" "g.237850816C>T" "" "" "" "RYR2(NM_001035.2):c.9067+12C>T, RYR2(NM_001035.3):c.9067+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687516C>T" "" "benign" "" "0000295213" "0" "50" "1" "237863590" "237863590" "subst" "0.000114525" "02330" "RYR2_000971" "g.237863590G>A" "" "" "" "RYR2(NM_001035.3):c.9190G>A (p.A3064T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237700290G>A" "" "VUS" "" "0000295214" "0" "10" "1" "237863718" "237863718" "subst" "0.992843" "02330" "RYR2_000972" "g.237863718T>G" "" "" "" "RYR2(NM_001035.3):c.9318T>G (p.S3106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237700418T>G" "" "benign" "" "0000295215" "0" "10" "1" "237865367" "237865367" "subst" "0.00547618" "02330" "RYR2_000973" "g.237865367T>A" "" "" "" "RYR2(NM_001035.3):c.9449+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237702067T>A" "" "benign" "" "0000295216" "0" "50" "1" "237868521" "237868521" "subst" "0" "02330" "RYR2_000975" "g.237868521C>T" "" "" "" "RYR2(NM_001035.3):c.9458C>T (p.S3153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705221C>T" "" "VUS" "" "0000295217" "0" "50" "1" "237586493" "237586493" "subst" "2.84905E-5" "02330" "RYR2_000810" "g.237586493T>C" "" "" "" "RYR2(NM_001035.3):c.950T>C (p.M317T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237423193T>C" "" "VUS" "" "0000295218" "0" "10" "1" "237868582" "237868582" "subst" "0.000495929" "02330" "RYR2_000976" "g.237868582T>C" "" "" "" "RYR2(NM_001035.3):c.9519T>C (p.T3173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705282T>C" "" "benign" "" "0000295219" "0" "50" "1" "237868634" "237868634" "subst" "0" "02330" "RYR2_000978" "g.237868634G>C" "" "" "" "RYR2(NM_001035.3):c.9571G>C (p.E3191Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705334G>C" "" "VUS" "" "0000295220" "0" "10" "1" "237870340" "237870340" "subst" "9.75538E-5" "02330" "RYR2_000982" "g.237870340C>T" "" "" "" "RYR2(NM_001035.2):c.9672C>T (p.S3224=), RYR2(NM_001035.3):c.9672C>T (p.S3224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707040C>T" "" "benign" "" "0000295221" "0" "10" "1" "237870559" "237870559" "subst" "3.08934E-5" "02330" "RYR2_000983" "g.237870559G>A" "" "" "" "RYR2(NM_001035.3):c.9891G>A (p.K3297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707259G>A" "" "benign" "" "0000297755" "0" "30" "1" "237872273" "237872273" "subst" "0.000118021" "02325" "RYR2_000989" "g.237872273C>T" "" "" "" "RYR2(NM_001035.2):c.10017C>T (p.H3339=), RYR2(NM_001035.3):c.10017C>T (p.H3339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708973C>T" "" "likely benign" "" "0000297756" "0" "50" "1" "237872287" "237872287" "subst" "0" "02325" "RYR2_000991" "g.237872287C>T" "" "" "" "RYR2(NM_001035.3):c.10031C>T (p.A3344V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708987C>T" "" "VUS" "" "0000297757" "0" "30" "1" "237872858" "237872858" "subst" "8.41439E-5" "02325" "RYR2_000994" "g.237872858G>A" "" "" "" "RYR2(NM_001035.3):c.10221G>A (p.S3407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237709558G>A" "" "likely benign" "" "0000297758" "0" "30" "1" "237875038" "237875041" "del" "0" "02325" "RYR2_000995" "g.237875038_237875041del" "" "" "" "RYR2(NM_001035.3):c.10231-7_10231-4delTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237711738_237711741del" "" "likely benign" "" "0000297759" "0" "30" "1" "237875068" "237875068" "subst" "0.00301169" "02325" "RYR2_000996" "g.237875068C>T" "" "" "" "RYR2(NM_001035.2):c.10254C>T (p.N3418=), RYR2(NM_001035.3):c.10254C>T (p.N3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237711768C>T" "" "likely benign" "" "0000297760" "0" "50" "1" "237880501" "237880501" "subst" "0" "02325" "RYR2_000997" "g.237880501G>C" "" "" "" "RYR2(NM_001035.2):c.10327G>C (p.(Ala3443Pro)), RYR2(NM_001035.3):c.10327G>C (p.A3443P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237717201G>C" "" "VUS" "" "0000297761" "0" "10" "1" "237881770" "237881770" "subst" "0.990616" "02325" "RYR2_000999" "g.237881770C>T" "" "" "" "RYR2(NM_001035.3):c.10503C>T (p.T3501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237718470C>T" "" "benign" "" "0000297762" "0" "50" "1" "237881784" "237881784" "subst" "2.85598E-5" "02325" "RYR2_001000" "g.237881784G>A" "" "" "" "RYR2(NM_001035.3):c.10517G>A (p.(Arg3506Gln), p.R3506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237718484G>A" "" "VUS" "" "0000297763" "0" "50" "1" "237890399" "237890399" "subst" "0" "02325" "RYR2_001003" "g.237890399C>T" "" "" "" "RYR2(NM_001035.3):c.10738C>T (p.Q3580*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237727099C>T" "" "VUS" "" "0000297764" "0" "10" "1" "237890437" "237890437" "subst" "0.990652" "02325" "RYR2_001004" "g.237890437C>T" "" "" "" "RYR2(NM_001035.3):c.10776C>T (p.S3592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237727137C>T" "" "benign" "" "0000297765" "0" "50" "1" "237890451" "237890451" "subst" "0" "02325" "RYR2_001005" "g.237890451G>T" "" "" "" "RYR2(NM_001035.3):c.10790G>T (p.R3597M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237727151G>T" "" "VUS" "" "0000297766" "0" "10" "1" "237893674" "237893674" "subst" "0.99621" "02325" "RYR2_001007" "g.237893674C>T" "" "" "" "RYR2(NM_001035.3):c.10935+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237730374C>T" "" "benign" "" "0000297767" "0" "30" "1" "237895351" "237895351" "subst" "0.000467282" "02325" "RYR2_001010" "g.237895351T>G" "" "" "" "RYR2(NM_001035.2):c.10941T>G (p.P3647=), RYR2(NM_001035.3):c.10941T>G (p.P3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237732051T>G" "" "likely benign" "" "0000297768" "0" "10" "1" "237905585" "237905585" "dup" "0" "02325" "RYR2_001015" "g.237905585dup" "" "" "" "RYR2(NM_001035.3):c.11092-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742285dup" "" "benign" "" "0000297769" "0" "30" "1" "237604747" "237604747" "subst" "0.000550849" "02325" "RYR2_000817" "g.237604747C>T" "" "" "" "RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441447C>T" "" "likely benign" "" "0000297770" "0" "30" "1" "237924239" "237924239" "dup" "0" "02325" "RYR2_001025" "g.237924239dup" "" "" "" "RYR2(NM_001035.3):c.11403-15delCinsTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237760939dup" "" "likely benign" "" "0000297771" "0" "30" "1" "237604756" "237604756" "subst" "0.000239044" "02325" "RYR2_000818" "g.237604756C>T" "" "" "" "RYR2(NM_001035.2):c.1143C>T (p.S381=), RYR2(NM_001035.3):c.1143C>T (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441456C>T" "" "likely benign" "" "0000297772" "0" "50" "1" "237604757" "237604757" "subst" "7.12501E-5" "02325" "RYR2_000819" "g.237604757G>A" "" "" "" "RYR2(NM_001035.3):c.1144G>A (p.V382M, p.(Val382Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441457G>A" "" "VUS" "" "0000297773" "0" "30" "1" "237924343" "237924343" "subst" "0.000703792" "02325" "RYR2_001026" "g.237924343C>T" "" "" "" "RYR2(NM_001035.3):c.11476+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237761043C>T" "" "likely benign" "" "0000297774" "0" "30" "1" "237934206" "237934206" "subst" "0.0177073" "02325" "RYR2_001027" "g.237934206C>T" "" "" "" "RYR2(NM_001035.2):c.11557+19C>T, RYR2(NM_001035.3):c.11557+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237770906C>T" "" "likely benign" "" "0000297775" "0" "30" "1" "237942001" "237942001" "subst" "6.10903E-5" "02325" "RYR2_001035" "g.237942001C>T" "" "" "" "RYR2(NM_001035.3):c.11811C>T (p.H3937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778701C>T" "" "likely benign" "" "0000297776" "0" "50" "1" "237944873" "237944873" "subst" "0" "02325" "RYR2_001038" "g.237944873T>G" "" "" "" "RYR2(NM_001035.3):c.11889T>G (p.S3963R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237781573T>G" "" "VUS" "" "0000297777" "0" "30" "1" "237947000" "237947000" "subst" "0.0116749" "02325" "RYR2_001042" "g.237947000C>T" "" "" "" "RYR2(NM_001035.2):c.11988C>T (p.G3996=), RYR2(NM_001035.3):c.11988C>T (p.G3996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783700C>T" "" "likely benign" "" "0000297778" "0" "50" "1" "237947059" "237947059" "subst" "7.78982E-5" "02325" "RYR2_001043" "g.237947059T>A" "" "" "" "RYR2(NM_001035.3):c.12047T>A (p.F4016Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783759T>A" "" "VUS" "" "0000297779" "0" "30" "1" "237947123" "237947123" "subst" "2.03754E-5" "02325" "RYR2_001045" "g.237947123C>T" "" "" "" "RYR2(NM_001035.3):c.12111C>T (p.P4037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783823C>T" "" "likely benign" "" "0000297780" "0" "30" "1" "237947171" "237947171" "subst" "0.000938056" "02325" "RYR2_001046" "g.237947171G>A" "" "" "" "RYR2(NM_001035.2):c.12159G>A (p.E4053=), RYR2(NM_001035.3):c.12159G>A (p.E4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783871G>A" "" "likely benign" "" "0000297781" "0" "30" "1" "237947201" "237947201" "subst" "2.04576E-5" "02325" "RYR2_001047" "g.237947201G>A" "" "" "" "RYR2(NM_001035.2):c.12189G>A (p.T4063=), RYR2(NM_001035.3):c.12189G>A (p.T4063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783901G>A" "" "likely benign" "" "0000297782" "0" "30" "1" "237608748" "237608748" "subst" "0.000618022" "02325" "RYR2_000821" "g.237608748G>A" "" "" "" "RYR2(NM_001035.2):c.1218G>A (p.S406=), RYR2(NM_001035.3):c.1218G>A (p.S406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445448G>A" "" "likely benign" "" "0000297783" "0" "30" "1" "237947219" "237947219" "subst" "1.22876E-5" "02325" "RYR2_001048" "g.237947219T>C" "" "" "" "RYR2(NM_001035.2):c.12207T>C (p.C4069=), RYR2(NM_001035.3):c.12207T>C (p.C4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783919T>C" "" "likely benign" "" "0000297784" "0" "50" "1" "237947353" "237947353" "subst" "0" "02325" "RYR2_001050" "g.237947353G>A" "" "" "" "RYR2(NM_001035.3):c.12341G>A (p.R4114Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784053G>A" "" "VUS" "" "0000297785" "0" "50" "1" "237608770" "237608770" "subst" "0" "02325" "RYR2_000748" "g.237608770C>T" "" "" "" "RYR2(NM_001035.3):c.1240C>T (p.R414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445470C>T" "" "VUS" "" "0000297786" "0" "50" "1" "237947500" "237947500" "subst" "0" "02325" "RYR2_001052" "g.237947500C>A" "" "" "" "RYR2(NM_001035.3):c.12488C>A (p.P4163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784200C>A" "" "VUS" "" "0000297787" "0" "70" "1" "237947632" "237947632" "subst" "0" "02325" "RYR2_001054" "g.237947632C>T" "" "" "" "RYR2(NM_001035.2):c.12620C>T (p.S4207L), RYR2(NM_001035.3):c.12620C>T (p.S4207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784332C>T" "" "likely pathogenic" "" "0000297788" "0" "30" "1" "237947870" "237947870" "subst" "0.00010177" "02325" "RYR2_001056" "g.237947870C>T" "" "" "" "RYR2(NM_001035.3):c.12858C>T (p.S4286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784570C>T" "" "likely benign" "" "0000297789" "0" "30" "1" "237608842" "237608842" "subst" "0.00818309" "02325" "RYR2_000824" "g.237608842C>T" "" "" "" "RYR2(NM_001035.2):c.1292+20C>T, RYR2(NM_001035.3):c.1292+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445542C>T" "" "likely benign" "" "0000297790" "0" "30" "1" "237948149" "237948149" "subst" "0.00015068" "02325" "RYR2_001059" "g.237948149C>A" "" "" "" "RYR2(NM_001035.3):c.13137C>A (p.I4379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784849C>A" "" "likely benign" "" "0000297791" "0" "30" "1" "237617718" "237617718" "subst" "0" "02325" "RYR2_000827" "g.237617718G>A" "" "" "" "RYR2(NM_001035.3):c.1320G>A (p.A440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454418G>A" "" "likely benign" "" "0000297792" "0" "50" "1" "237949299" "237949299" "subst" "0.000235265" "02325" "RYR2_000714" "g.237949299G>A" "" "" "" "RYR2(NM_001035.3):c.13291G>A (p.E4431K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237785999G>A" "" "VUS" "" "0000297793" "0" "30" "1" "237617733" "237617733" "subst" "4.49497E-5" "02325" "RYR2_000828" "g.237617733C>T" "" "" "" "RYR2(NM_001035.3):c.1335C>T (p.V445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454433C>T" "" "likely benign" "" "0000297794" "0" "30" "1" "237951365" "237951365" "subst" "1.23599E-5" "02325" "RYR2_001063" "g.237951365G>C" "" "" "" "RYR2(NM_001035.3):c.13406G>C (p.R4469T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237788065G>C" "" "likely benign" "" "0000297795" "0" "10" "1" "237617757" "237617757" "subst" "0.581893" "02325" "RYR2_000829" "g.237617757C>T" "" "" "" "RYR2(NM_001035.3):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454457C>T" "" "benign" "" "0000297796" "0" "30" "1" "237955485" "237955485" "subst" "0" "02325" "RYR2_001071" "g.237955485C>T" "" "" "" "RYR2(NM_001035.3):c.13644C>T (p.D4548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792185C>T" "" "likely benign" "" "0000297797" "0" "30" "1" "237958640" "237958643" "del" "0" "02325" "RYR2_001076" "g.237958640_237958643del" "" "" "" "RYR2(NM_001035.3):c.13956+9_13956+12delACTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237795340_237795343del" "" "likely benign" "" "0000297798" "0" "30" "1" "237961357" "237961357" "subst" "0.00238381" "02325" "RYR2_001078" "g.237961357G>A" "" "" "" "RYR2(NM_001035.3):c.13977G>A (p.E4659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798057G>A" "" "likely benign" "" "0000297799" "0" "30" "1" "237961363" "237961363" "subst" "0.00224573" "02325" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798063C>T" "" "likely benign" "" "0000297800" "0" "30" "1" "237961409" "237961409" "subst" "0.00103133" "02325" "RYR2_001080" "g.237961409C>T" "" "" "" "RYR2(NM_001035.2):c.14029C>T (p.L4677=), RYR2(NM_001035.3):c.14029C>T (p.L4677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798109C>T" "" "likely benign" "" "0000297801" "0" "10" "1" "237965145" "237965145" "dup" "0" "02325" "RYR2_001085" "g.237965145dup" "" "" "" "RYR2(NM_001035.3):c.14091-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237801845dup" "" "benign" "" "0000297802" "0" "10" "1" "237965144" "237965145" "dup" "0" "02325" "RYR2_001086" "g.237965144_237965145dup" "" "" "" "RYR2(NM_001035.3):c.14091-12_14091-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237801844_237801845dup" "" "benign" "" "0000297803" "0" "30" "1" "237969421" "237969421" "subst" "3.26808E-5" "02325" "RYR2_001087" "g.237969421C>T" "" "" "" "RYR2(NM_001035.3):c.14152-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237806121C>T" "" "likely benign" "" "0000297804" "0" "30" "1" "237972212" "237972212" "subst" "4.8744E-5" "02325" "RYR2_001091" "g.237972212C>T" "" "" "" "RYR2(NM_001035.3):c.14310C>T (p.T4770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237808912C>T" "" "likely benign" "" "0000297805" "0" "30" "1" "237972323" "237972323" "subst" "0.00409342" "02325" "RYR2_001093" "g.237972323C>T" "" "" "" "RYR2(NM_001035.3):c.14421C>T (p.D4807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237809023C>T" "" "likely benign" "" "0000297806" "0" "30" "1" "237982386" "237982386" "subst" "0.000170611" "02325" "RYR2_001096" "g.237982386G>T" "" "" "" "RYR2(NM_001035.2):c.14484G>T (p.G4828=), RYR2(NM_001035.3):c.14484G>T (p.G4828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819086G>T" "" "likely benign" "" "0000297807" "0" "10" "1" "237619889" "237619889" "dup" "0" "02325" "RYR2_000832" "g.237619889dup" "" "" "" "RYR2(NM_001035.3):c.1477-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456589dup" "" "benign" "" "0000297808" "0" "30" "1" "237995837" "237995837" "subst" "0.00545634" "02325" "RYR2_001108" "g.237995837C>G" "" "" "" "RYR2(NM_001035.2):c.14809-15C>G, RYR2(NM_001035.3):c.14809-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832537C>G" "" "likely benign" "" "0000297809" "0" "30" "1" "237995832" "237995832" "subst" "0.00401194" "02325" "RYR2_001107" "g.237995832C>T" "" "" "" "RYR2(NM_001035.2):c.14809-20C>T, RYR2(NM_001035.3):c.14809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832532C>T" "" "likely benign" "" "0000297810" "0" "30" "1" "237619971" "237619971" "subst" "0.000460068" "02325" "RYR2_000833" "g.237619971T>C" "" "" "" "RYR2(NM_001035.2):c.1548T>C (p.D516=), RYR2(NM_001035.3):c.1548T>C (p.D516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456671T>C" "" "likely benign" "" "0000297811" "0" "30" "1" "237620019" "237620019" "subst" "0" "02325" "RYR2_000835" "g.237620019T>C" "" "" "" "RYR2(NM_001035.3):c.1596T>C (p.S532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456719T>C" "" "likely benign" "" "0000297812" "0" "10" "1" "237620049" "237620049" "subst" "0.556735" "02325" "RYR2_000837" "g.237620049T>C" "" "" "" "RYR2(NM_001035.3):c.1612+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456749T>C" "" "benign" "" "0000297813" "0" "30" "1" "237656289" "237656289" "subst" "0.00469025" "02325" "RYR2_000839" "g.237656289C>T" "" "" "" "RYR2(NM_001035.2):c.1863C>T (p.H621=), RYR2(NM_001035.3):c.1863C>T (p.H621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237492989C>T" "" "likely benign" "" "0000297814" "0" "30" "1" "237663995" "237663995" "subst" "0.000569231" "02325" "RYR2_000846" "g.237663995G>T" "" "" "" "RYR2(NM_001035.3):c.2204-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500695G>T" "" "likely benign" "" "0000297815" "0" "30" "1" "237664004" "237664004" "subst" "0.00964533" "02325" "RYR2_000847" "g.237664004C>G" "" "" "" "RYR2(NM_001035.2):c.2204-7C>G (p.(=)), RYR2(NM_001035.3):c.2204-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500704C>G" "" "likely benign" "" "0000297816" "0" "50" "1" "237664014" "237664014" "subst" "0" "02325" "RYR2_000848" "g.237664014G>T" "" "" "" "RYR2(NM_001035.3):c.2207G>T (p.C736F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500714G>T" "" "VUS" "" "0000297817" "0" "30" "1" "237666583" "237666583" "subst" "0.00379094" "02325" "RYR2_000851" "g.237666583C>T" "" "" "" "RYR2(NM_001035.2):c.2397-6C>T, RYR2(NM_001035.3):c.2397-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503283C>T" "" "likely benign" "" "0000297818" "0" "50" "1" "237666633" "237666635" "del" "0" "02325" "RYR2_000852" "g.237666633_237666635del" "" "" "" "RYR2(NM_001035.3):c.2441_2443delTTC (p.L814del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503333_237503335del" "" "VUS" "" "0000297819" "0" "50" "1" "237666636" "237666636" "subst" "0" "02325" "RYR2_000853" "g.237666636C>T" "" "" "" "RYR2(NM_001035.3):c.2444C>T (p.P815L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503336C>T" "" "VUS" "" "0000297820" "0" "30" "1" "237666809" "237666809" "subst" "5.2904E-5" "02325" "RYR2_000856" "g.237666809C>G" "" "" "" "RYR2(NM_001035.3):c.2613+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503509C>G" "" "likely benign" "" "0000297821" "0" "50" "1" "237670013" "237670013" "subst" "4.11133E-6" "02325" "RYR2_000858" "g.237670013G>A" "" "" "" "RYR2(NM_001035.3):c.2617G>A (p.V873M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237506713G>A" "" "VUS" "" "0000297822" "0" "50" "1" "237670113" "237670113" "subst" "3.66763E-5" "02325" "RYR2_000859" "g.237670113C>T" "" "" "" "RYR2(NM_001035.3):c.2717C>T (p.(Pro906Leu), p.P906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237506813C>T" "" "VUS" "" "0000297823" "0" "30" "1" "237675029" "237675029" "subst" "0.00156191" "02325" "RYR2_000860" "g.237675029G>A" "" "" "" "RYR2(NM_001035.2):c.2760G>A (p.E920=), RYR2(NM_001035.3):c.2760G>A (p.E920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237511729G>A" "" "likely benign" "" "0000297824" "0" "30" "1" "237711848" "237711848" "subst" "0.000170612" "02325" "RYR2_000864" "g.237711848G>A" "" "" "" "RYR2(NM_001035.3):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548548G>A" "" "likely benign" "" "0000297825" "0" "50" "1" "237711862" "237711862" "subst" "0.000450974" "02325" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548562G>A" "" "VUS" "" "0000297826" "0" "30" "1" "237711878" "237711878" "subst" "0.000170776" "02325" "RYR2_000866" "g.237711878T>C" "" "" "" "RYR2(NM_001035.3):c.3054T>C (p.Y1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548578T>C" "" "likely benign" "" "0000297827" "0" "10" "1" "237532811" "237532813" "del" "0" "02325" "RYR2_000794" "g.237532811_237532813del" "" "" "" "RYR2(NM_001035.3):c.310-23_310-21delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237369511_237369513del" "" "benign" "" "0000297828" "0" "50" "1" "237713928" "237713928" "subst" "9.72517E-5" "02325" "RYR2_000024" "g.237713928C>T" "" "" "" "RYR2(NM_001035.3):c.3151C>T (p.R1051C, p.(Arg1051Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550628C>T" "" "VUS" "" "0000297829" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "02325" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550629G>A" "" "VUS" "" "0000297830" "0" "30" "1" "237730059" "237730059" "subst" "0.00685678" "02325" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566759C>T" "" "likely benign" "" "0000297831" "0" "30" "1" "237730069" "237730069" "subst" "0" "02325" "RYR2_000873" "g.237730069C>T" "" "" "" "RYR2(NM_001035.3):c.3417C>T (p.G1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566769C>T" "" "likely benign" "" "0000297832" "0" "10" "1" "237753084" "237753084" "del" "0" "02325" "RYR2_000875" "g.237753084del" "" "" "" "RYR2(NM_001035.3):c.3599-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589784del" "" "benign" "" "0000297833" "0" "30" "1" "237754020" "237754020" "subst" "0.000648674" "02325" "RYR2_000881" "g.237754020C>T" "" "" "" "RYR2(NM_001035.2):c.3888C>T (p.N1296=), RYR2(NM_001035.3):c.3888C>T (p.N1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590720C>T" "" "likely benign" "" "0000297834" "0" "30" "1" "237754110" "237754110" "subst" "2.03388E-5" "02325" "RYR2_000883" "g.237754110C>G" "" "" "" "RYR2(NM_001035.3):c.3978C>G (p.G1326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590810C>G" "" "likely benign" "" "0000297835" "0" "50" "1" "237754280" "237754280" "subst" "2.06368E-5" "02325" "RYR2_000884" "g.237754280G>A" "" "" "" "RYR2(NM_001035.3):c.4148G>A (p.R1383H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590980G>A" "" "VUS" "" "0000297836" "0" "30" "1" "237758969" "237758969" "subst" "0.000450679" "02325" "RYR2_000889" "g.237758969G>A" "" "" "" "RYR2(NM_001035.3):c.4596+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237595669G>A" "" "likely benign" "" "0000297837" "0" "30" "1" "237765333" "237765333" "subst" "0.00321094" "02325" "RYR2_000892" "g.237765333G>A" "" "" "" "RYR2(NM_001035.2):c.4605G>A (p.P1535=), RYR2(NM_001035.3):c.4605G>A (p.P1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602033G>A" "" "likely benign" "" "0000297838" "0" "30" "1" "237774112" "237774112" "subst" "4.13295E-6" "02325" "RYR2_000896" "g.237774112C>A" "" "" "" "RYR2(NM_001035.3):c.4734C>A (p.P1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610812C>A" "" "likely benign" "" "0000297839" "0" "30" "1" "237774118" "237774118" "subst" "0.00332497" "02325" "RYR2_000897" "g.237774118G>A" "" "" "" "RYR2(NM_001035.3):c.4740G>A (p.P1580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610818G>A" "" "likely benign" "" "0000297840" "0" "10" "1" "237433625" "237433625" "subst" "0" "02325" "RYR2_000790" "g.237433625C>T" "" "" "" "RYR2(NM_001035.3):c.49-172C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237270325C>T" "" "benign" "" "0000297841" "0" "30" "1" "237777429" "237777429" "subst" "6.50364E-5" "02325" "RYR2_000899" "g.237777429T>C" "" "" "" "RYR2(NM_001035.3):c.5001T>C (p.L1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614129T>C" "" "likely benign" "" "0000297842" "0" "30" "1" "237777882" "237777882" "subst" "8.55272E-5" "02325" "RYR2_000904" "g.237777882T>C" "" "" "" "RYR2(NM_001035.3):c.5454T>C (p.F1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614582T>C" "" "likely benign" "" "0000297843" "0" "30" "1" "237778014" "237778014" "subst" "0.000990567" "02325" "RYR2_000907" "g.237778014C>T" "" "" "" "RYR2(NM_001035.2):c.5586C>T (p.D1862=), RYR2(NM_001035.3):c.5586C>T (p.D1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614714C>T" "" "likely benign" "" "0000297844" "0" "30" "1" "237778041" "237778041" "subst" "0.000649229" "02325" "RYR2_000908" "g.237778041C>T" "" "" "" "RYR2(NM_001035.2):c.5613C>T (p.D1871=), RYR2(NM_001035.3):c.5613C>T (p.D1871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614741C>T" "" "likely benign" "" "0000297845" "0" "30" "1" "237778082" "237778082" "subst" "0.0155991" "02325" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614782G>A" "" "likely benign" "" "0000297846" "0" "30" "1" "237540742" "237540742" "subst" "0.00148016" "02325" "RYR2_000800" "g.237540742G>C" "" "" "" "RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377442G>C" "" "likely benign" "" "0000297847" "0" "30" "1" "237788953" "237788953" "subst" "4.17153E-6" "02325" "RYR2_000911" "g.237788953T>C" "" "" "" "RYR2(NM_001035.3):c.6023-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237625653T>C" "" "likely benign" "" "0000297848" "0" "50" "1" "237791127" "237791127" "subst" "0" "02325" "RYR2_000914" "g.237791127T>C" "" "" "" "RYR2(NM_001035.3):c.6187T>C (p.S2063P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237627827T>C" "" "VUS" "" "0000297849" "0" "50" "1" "237791147" "237791147" "subst" "0" "02325" "RYR2_000916" "g.237791147G>A" "" "" "" "RYR2(NM_001035.3):c.6207G>A (p.W2069*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237627847G>A" "" "VUS" "" "0000297850" "0" "30" "1" "237794708" "237794708" "subst" "0.00264809" "02325" "RYR2_000919" "g.237794708C>T" "" "" "" "RYR2(NM_001035.2):c.6441-19C>T, RYR2(NM_001035.3):c.6441-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631408C>T" "" "likely benign" "" "0000297851" "0" "50" "1" "237794782" "237794782" "subst" "0" "02325" "RYR2_000920" "g.237794782G>C" "" "" "" "RYR2(NM_001035.3):c.6496G>C (p.G2166R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631482G>C" "" "VUS" "" "0000297852" "0" "30" "1" "237794849" "237794849" "subst" "0.000536826" "02325" "RYR2_000922" "g.237794849C>T" "" "" "" "RYR2(NM_001035.2):c.6555+8C>T, RYR2(NM_001035.3):c.6555+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631549C>T" "" "likely benign" "" "0000297853" "0" "50" "1" "237796915" "237796915" "subst" "0" "02325" "RYR2_000923" "g.237796915G>A" "" "" "" "RYR2(NM_001035.3):c.6593G>A (p.R2198H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237633615G>A" "" "VUS" "" "0000297854" "0" "30" "1" "237798238" "237798238" "subst" "0.000113152" "02325" "RYR2_000924" "g.237798238G>T" "" "" "" "RYR2(NM_001035.3):c.6738G>T (p.S2246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237634938G>T" "" "likely benign" "" "0000297855" "0" "10" "1" "237801770" "237801770" "subst" "0.990642" "02325" "RYR2_000925" "g.237801770T>C" "" "" "" "RYR2(NM_001035.3):c.6906T>C (p.L2302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638470T>C" "" "benign" "" "0000297856" "0" "30" "1" "237801796" "237801796" "subst" "0.00367112" "02325" "RYR2_000926" "g.237801796G>A" "" "" "" "RYR2(NM_001035.2):c.6928+4G>A, RYR2(NM_001035.3):c.6928+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638496G>A" "" "likely benign" "" "0000297857" "0" "30" "1" "237802469" "237802469" "subst" "2.44125E-5" "02325" "RYR2_000930" "g.237802469T>C" "" "" "" "RYR2(NM_001035.3):c.7083T>C (p.G2361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639169T>C" "" "likely benign" "" "0000297858" "0" "30" "1" "237802485" "237802485" "subst" "0.000142696" "02325" "RYR2_000004" "g.237802485G>A" "" "" "" "RYR2(NM_001035.3):c.7099G>A (p.G2367R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639185G>A" "" "likely benign" "" "0000297859" "0" "30" "1" "237811766" "237811766" "subst" "0.00401341" "02325" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648466C>T" "" "likely benign" "" "0000297860" "0" "30" "1" "237811889" "237811889" "subst" "0.00385759" "02325" "RYR2_000939" "g.237811889C>T" "" "" "" "RYR2(NM_001035.2):c.7488C>T (p.L2496=), RYR2(NM_001035.3):c.7488C>T (p.L2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648589C>T" "" "likely benign" "" "0000297861" "0" "30" "1" "237813287" "237813287" "subst" "2.84276E-5" "02325" "RYR2_000944" "g.237813287C>T" "" "" "" "RYR2(NM_001035.3):c.7623C>T (p.H2541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237649987C>T" "" "likely benign" "" "0000297862" "0" "10" "1" "237814783" "237814783" "subst" "0.475459" "02325" "RYR2_000945" "g.237814783C>T" "" "" "" "RYR2(NM_001035.3):c.7806C>T (p.H2602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237651483C>T" "" "benign" "" "0000297863" "0" "30" "1" "237814821" "237814821" "subst" "0.000233282" "02325" "RYR2_000946" "g.237814821G>A" "" "" "" "RYR2(NM_001035.3):c.7824+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237651521G>A" "" "likely benign" "" "0000297864" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "02325" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237657976T>C" "" "likely benign" "" "0000297865" "0" "50" "1" "237824177" "237824177" "subst" "0" "02325" "RYR2_000951" "g.237824177T>C" "" "" "" "RYR2(NM_001035.3):c.8366T>C (p.I2789T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237660877T>C" "" "VUS" "" "0000297866" "0" "30" "1" "237829823" "237829823" "subst" "0.0106831" "02325" "RYR2_000953" "g.237829823C>T" "" "" "" "RYR2(NM_001035.2):c.8448C>T (p.D2816=), RYR2(NM_001035.3):c.8448C>T (p.D2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237666523C>T" "" "likely benign" "" "0000297867" "0" "50" "1" "237837401" "237837403" "del" "0" "02325" "RYR2_000955" "g.237837401_237837403del" "" "" "" "RYR2(NM_001035.3):c.8591-2_8591delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674101_237674103del" "" "VUS" "" "0000297868" "0" "30" "1" "237837448" "237837448" "subst" "4.06517E-6" "02325" "RYR2_000957" "g.237837448G>A" "" "" "" "RYR2(NM_001035.2):c.8643G>A (p.E2881=), RYR2(NM_001035.3):c.8643G>A (p.E2881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674148G>A" "" "likely benign" "" "0000297869" "0" "50" "1" "237586435" "237586435" "subst" "8.9468E-5" "02325" "RYR2_000809" "g.237586435C>T" "" "" "" "RYR2(NM_001035.3):c.892C>T (p.R298C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237423135C>T" "" "VUS" "" "0000297870" "0" "50" "1" "237843828" "237843828" "subst" "8.41921E-6" "02325" "RYR2_000963" "g.237843828C>T" "" "" "" "RYR2(NM_001035.2):c.8968C>T (p.(Leu2990Phe)), RYR2(NM_001035.3):c.8968C>T (p.L2990F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237680528C>T" "" "VUS" "" "0000297871" "0" "30" "1" "237850814" "237850814" "subst" "0.00012627" "02325" "RYR2_000966" "g.237850814C>T" "" "" "" "RYR2(NM_001035.3):c.9067+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687514C>T" "" "likely benign" "" "0000297872" "0" "30" "1" "237850816" "237850816" "subst" "0.00147556" "02325" "RYR2_000967" "g.237850816C>T" "" "" "" "RYR2(NM_001035.2):c.9067+12C>T, RYR2(NM_001035.3):c.9067+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687516C>T" "" "likely benign" "" "0000297873" "0" "50" "1" "237862305" "237862305" "subst" "0" "02325" "RYR2_000969" "g.237862305G>C" "" "" "" "RYR2(NM_001035.3):c.9108G>C (p.L3036F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237699005G>C" "" "VUS" "" "0000297874" "0" "10" "1" "237863718" "237863718" "subst" "0.992843" "02325" "RYR2_000972" "g.237863718T>G" "" "" "" "RYR2(NM_001035.3):c.9318T>G (p.S3106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237700418T>G" "" "benign" "" "0000297875" "0" "30" "1" "237865367" "237865367" "subst" "0.00547618" "02325" "RYR2_000973" "g.237865367T>A" "" "" "" "RYR2(NM_001035.3):c.9449+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237702067T>A" "" "likely benign" "" "0000297876" "0" "50" "1" "237868517" "237868517" "subst" "2.11825E-5" "02325" "RYR2_000974" "g.237868517C>T" "" "" "" "RYR2(NM_001035.3):c.9454C>T (p.R3152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705217C>T" "" "VUS" "" "0000297877" "0" "30" "1" "237868582" "237868582" "subst" "0.000495929" "02325" "RYR2_000976" "g.237868582T>C" "" "" "" "RYR2(NM_001035.3):c.9519T>C (p.T3173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705282T>C" "" "likely benign" "" "0000297878" "0" "30" "1" "237870340" "237870340" "subst" "9.75538E-5" "02325" "RYR2_000982" "g.237870340C>T" "" "" "" "RYR2(NM_001035.2):c.9672C>T (p.S3224=), RYR2(NM_001035.3):c.9672C>T (p.S3224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707040C>T" "" "likely benign" "" "0000297879" "0" "30" "1" "237872219" "237872219" "subst" "0.000139419" "02325" "RYR2_000986" "g.237872219G>A" "" "" "" "RYR2(NM_001035.3):c.9963G>A (p.P3321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708919G>A" "" "likely benign" "" "0000297880" "0" "30" "1" "237872252" "237872252" "subst" "0" "02325" "RYR2_000988" "g.237872252G>T" "" "" "" "RYR2(NM_001035.3):c.9996G>T (p.T3332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708952G>T" "" "likely benign" "" "0000301554" "0" "30" "1" "237872273" "237872273" "subst" "0.000118021" "02326" "RYR2_000989" "g.237872273C>T" "" "" "" "RYR2(NM_001035.2):c.10017C>T (p.H3339=), RYR2(NM_001035.3):c.10017C>T (p.H3339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708973C>T" "" "likely benign" "" "0000301555" "0" "10" "1" "237875068" "237875068" "subst" "0.00301169" "02326" "RYR2_000996" "g.237875068C>T" "" "" "" "RYR2(NM_001035.2):c.10254C>T (p.N3418=), RYR2(NM_001035.3):c.10254C>T (p.N3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237711768C>T" "" "benign" "" "0000301556" "0" "30" "1" "237895238" "237895238" "subst" "0" "02326" "RYR2_001008" "g.237895238G>A" "" "" "" "RYR2(NM_001035.3):c.10936-108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237731938G>A" "" "likely benign" "" "0000301557" "0" "30" "1" "237895310" "237895310" "subst" "0" "02326" "RYR2_001009" "g.237895310T>A" "" "" "" "RYR2(NM_001035.3):c.10936-36T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237732010T>A" "" "likely benign" "" "0000301558" "0" "30" "1" "237895351" "237895351" "subst" "0.000467282" "02326" "RYR2_001010" "g.237895351T>G" "" "" "" "RYR2(NM_001035.2):c.10941T>G (p.P3647=), RYR2(NM_001035.3):c.10941T>G (p.P3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237732051T>G" "" "likely benign" "" "0000301559" "0" "30" "1" "237905471" "237905471" "subst" "0" "02326" "RYR2_001013" "g.237905471G>T" "" "" "" "RYR2(NM_001035.3):c.11092-125G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742171G>T" "" "likely benign" "" "0000301560" "0" "10" "1" "237905571" "237905571" "subst" "0" "02326" "RYR2_001014" "g.237905571T>C" "" "" "" "RYR2(NM_001035.3):c.11092-25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237742271T>C" "" "benign" "" "0000301561" "0" "30" "1" "237604747" "237604747" "subst" "0.000550849" "02326" "RYR2_000817" "g.237604747C>T" "" "" "" "RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441447C>T" "" "likely benign" "" "0000301562" "0" "30" "1" "237923105" "237923105" "subst" "0" "02326" "RYR2_001022" "g.237923105G>A" "" "" "" "RYR2(NM_001035.3):c.11355G>A (p.K3785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237759805G>A" "" "likely benign" "" "0000301563" "0" "30" "1" "237924239" "237924239" "del" "0" "02326" "RYR2_001024" "g.237924239del" "" "" "" "RYR2(NM_001035.3):c.11403-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237760939del" "" "likely benign" "" "0000301564" "0" "10" "1" "237934206" "237934206" "subst" "0.0177073" "02326" "RYR2_001027" "g.237934206C>T" "" "" "" "RYR2(NM_001035.2):c.11557+19C>T, RYR2(NM_001035.3):c.11557+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237770906C>T" "" "benign" "" "0000301565" "0" "10" "1" "237941945" "237941945" "subst" "0.0450178" "02326" "RYR2_001032" "g.237941945G>A" "" "" "" "RYR2(NM_001035.3):c.11776-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778645G>A" "" "benign" "" "0000301566" "0" "30" "1" "237942083" "237942086" "del" "0.0111" "02326" "RYR2_001037" "g.237942083_237942086del" "" "" "" "RYR2(NM_001035.3):c.11880+13_11880+16delACTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778783_237778786del" "" "likely benign" "" "0000301567" "0" "50" "1" "237944950" "237944950" "subst" "0" "02326" "RYR2_001039" "g.237944950G>C" "" "" "" "RYR2(NM_001035.3):c.11962+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237781650G>C" "" "VUS" "" "0000301568" "0" "30" "1" "237946971" "237946971" "subst" "2.20041E-5" "02326" "RYR2_001041" "g.237946971C>T" "" "" "" "RYR2(NM_001035.3):c.11963-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783671C>T" "" "likely benign" "" "0000301569" "0" "30" "1" "237947171" "237947171" "subst" "0.000938056" "02326" "RYR2_001046" "g.237947171G>A" "" "" "" "RYR2(NM_001035.2):c.12159G>A (p.E4053=), RYR2(NM_001035.3):c.12159G>A (p.E4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783871G>A" "" "likely benign" "" "0000301570" "0" "30" "1" "237947504" "237947504" "subst" "0.000195311" "02326" "RYR2_001053" "g.237947504G>A" "" "" "" "RYR2(NM_001035.3):c.12492G>A (p.Q4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784204G>A" "" "likely benign" "" "0000301571" "0" "30" "1" "237947717" "237947717" "subst" "0.000371304" "02326" "RYR2_001055" "g.237947717C>T" "" "" "" "RYR2(NM_001035.2):c.12705C>T (p.F4235=), RYR2(NM_001035.3):c.12705C>T (p.F4235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784417C>T" "" "likely benign" "" "0000301572" "0" "50" "1" "237947871" "237947871" "subst" "1.22127E-5" "02326" "RYR2_001057" "g.237947871T>C" "" "" "" "RYR2(NM_001035.3):c.12859T>C (p.Y4287H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784571T>C" "" "VUS" "" "0000301573" "0" "70" "1" "237947956" "237947956" "subst" "2.44302E-5" "02326" "RYR2_000713" "g.237947956G>A" "" "" "" "RYR2(NM_001035.3):c.12944G>A (p.G4315E, p.(Gly4315Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237784656G>A" "" "likely pathogenic" "" "0000301574" "0" "50" "1" "237954780" "237954780" "subst" "0" "02326" "RYR2_001066" "g.237954780G>A" "" "" "" "RYR2(NM_001035.3):c.13528G>A (p.A4510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237791480G>A" "" "VUS" "" "0000301575" "0" "30" "1" "237955434" "237955434" "subst" "1.2978E-5" "02326" "RYR2_001069" "g.237955434G>A" "" "" "" "RYR2(NM_001035.3):c.13593G>A (p.K4531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792134G>A" "" "likely benign" "" "0000301576" "0" "10" "1" "237955581" "237955581" "subst" "0.000911" "02326" "RYR2_001073" "g.237955581G>A" "" "" "" "RYR2(NM_001035.2):c.13740G>A (p.T4580=), RYR2(NM_001035.3):c.13740G>A (p.T4580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792281G>A" "" "benign" "" "0000301577" "0" "30" "1" "237961363" "237961363" "subst" "0.00224573" "02326" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798063C>T" "" "likely benign" "" "0000301578" "0" "30" "1" "237965145" "237965145" "del" "0" "02326" "RYR2_001084" "g.237965145del" "" "" "" "RYR2(NM_001035.3):c.14091-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237801845del" "" "likely benign" "" "0000301579" "0" "30" "1" "237965130" "237965130" "subst" "0" "02326" "RYR2_001081" "g.237965130C>T" "" "" "" "RYR2(NM_001035.3):c.14091-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237801830C>T" "" "likely benign" "" "0000301580" "0" "30" "1" "237969502" "237969502" "del" "0" "02326" "RYR2_001088" "g.237969502del" "" "" "" "RYR2(NM_001035.3):c.14217delT (p.F4739Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237806202del" "" "likely benign" "" "0000301581" "0" "10" "1" "237982663" "237982663" "subst" "0" "02326" "RYR2_001098" "g.237982663G>A" "" "" "" "RYR2(NM_001035.3):c.14590+171G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819363G>A" "" "benign" "" "0000301582" "0" "30" "1" "237993826" "237993826" "subst" "0" "02326" "RYR2_001100" "g.237993826C>G" "" "" "" "RYR2(NM_001035.3):c.14656-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237830526C>G" "" "likely benign" "" "0000301583" "0" "10" "1" "237993942" "237993942" "subst" "0.00334782" "02326" "RYR2_001101" "g.237993942C>T" "" "" "" "RYR2(NM_001035.2):c.14756+12C>T, RYR2(NM_001035.3):c.14756+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237830642C>T" "" "benign" "" "0000301584" "0" "30" "1" "237619889" "237619889" "del" "0" "02326" "RYR2_000831" "g.237619889del" "" "" "" "RYR2(NM_001035.3):c.1477-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456589del" "" "likely benign" "" "0000301585" "0" "30" "1" "237995837" "237995837" "subst" "0.00545634" "02326" "RYR2_001108" "g.237995837C>G" "" "" "" "RYR2(NM_001035.2):c.14809-15C>G, RYR2(NM_001035.3):c.14809-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832537C>G" "" "likely benign" "" "0000301586" "0" "10" "1" "237619942" "237619942" "subst" "0.0035864" "02326" "RYR2_000112" "g.237619942G>A" "" "" "" "RYR2(NM_001035.2):c.1519G>A (p.V507I), RYR2(NM_001035.3):c.1519G>A (p.V507I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456642G>A" "" "benign" "" "0000301587" "0" "10" "1" "237619971" "237619971" "subst" "0.000460068" "02326" "RYR2_000833" "g.237619971T>C" "" "" "" "RYR2(NM_001035.2):c.1548T>C (p.D516=), RYR2(NM_001035.3):c.1548T>C (p.D516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456671T>C" "" "benign" "" "0000301588" "0" "10" "1" "237664004" "237664004" "subst" "0.00964533" "02326" "RYR2_000847" "g.237664004C>G" "" "" "" "RYR2(NM_001035.2):c.2204-7C>G (p.(=)), RYR2(NM_001035.3):c.2204-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500704C>G" "" "benign" "" "0000301589" "0" "30" "1" "237664213" "237664213" "subst" "5.28219E-5" "02326" "RYR2_000850" "g.237664213T>C" "" "" "" "RYR2(NM_001035.3):c.2396+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500913T>C" "" "likely benign" "" "0000301590" "0" "10" "1" "237666583" "237666583" "subst" "0.00379094" "02326" "RYR2_000851" "g.237666583C>T" "" "" "" "RYR2(NM_001035.2):c.2397-6C>T, RYR2(NM_001035.3):c.2397-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503283C>T" "" "benign" "" "0000301591" "0" "10" "1" "237693662" "237693662" "subst" "0" "02326" "RYR2_000862" "g.237693662C>T" "" "" "" "RYR2(NM_001035.3):c.2823-65C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237530362C>T" "" "benign" "" "0000301592" "0" "50" "1" "237711868" "237711868" "subst" "0" "02326" "RYR2_000865" "g.237711868G>A" "" "" "" "RYR2(NM_001035.3):c.3044G>A (p.G1015D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548568G>A" "" "VUS" "" "0000301593" "0" "30" "1" "237713835" "237713835" "subst" "0" "02326" "RYR2_000867" "g.237713835T>G" "" "" "" "RYR2(NM_001035.3):c.3067-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550535T>G" "" "likely benign" "" "0000301594" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "02326" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550629G>A" "" "VUS" "" "0000301595" "0" "30" "1" "237730059" "237730059" "subst" "0.00685678" "02326" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566759C>T" "" "likely benign" "" "0000301596" "0" "10" "1" "237753084" "237753084" "del" "0" "02326" "RYR2_000874" "g.237753084del" "" "" "" "RYR2(NM_001035.3):c.3599-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589784del" "" "benign" "" "0000301597" "0" "30" "1" "237753087" "237753087" "subst" "0" "02326" "RYR2_000876" "g.237753087T>C" "" "" "" "RYR2(NM_001035.3):c.3599-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589787T>C" "" "likely benign" "" "0000301598" "0" "50" "1" "237753211" "237753211" "subst" "0" "02326" "RYR2_000878" "g.237753211T>G" "" "" "" "RYR2(NM_001035.3):c.3717T>G (p.F1239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589911T>G" "" "VUS" "" "0000301599" "0" "30" "1" "237758806" "237758806" "subst" "0.000226788" "02326" "RYR2_000887" "g.237758806G>A" "" "" "" "RYR2(NM_001035.2):c.4445G>A (p.R1482H, p.(Arg1482His)), RYR2(NM_001035.3):c.4445G>A (p.R1482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237595506G>A" "" "likely benign" "" "0000301600" "0" "10" "1" "237765333" "237765333" "subst" "0.00321094" "02326" "RYR2_000892" "g.237765333G>A" "" "" "" "RYR2(NM_001035.2):c.4605G>A (p.P1535=), RYR2(NM_001035.3):c.4605G>A (p.P1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237602033G>A" "" "benign" "" "0000301601" "0" "10" "1" "237774057" "237774057" "subst" "0.00368563" "02326" "RYR2_000894" "g.237774057G>C" "" "" "" "RYR2(NM_001035.2):c.4684-5G>C, RYR2(NM_001035.3):c.4684-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610757G>C" "" "benign" "" "0000301602" "0" "50" "1" "237540632" "237540632" "subst" "0" "02326" "RYR2_000799" "g.237540632G>A" "" "" "" "RYR2(NM_001035.3):c.473G>A (p.C158Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377332G>A" "" "VUS" "" "0000301603" "0" "70" "1" "237777598" "237777598" "subst" "0" "02326" "RYR2_000758" "g.237777598G>A" "" "" "" "RYR2(NM_001035.3):c.5170G>A (p.E1724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614298G>A" "" "likely pathogenic" "" "0000301604" "0" "30" "1" "237777936" "237777936" "subst" "2.85151E-5" "02326" "RYR2_000905" "g.237777936C>T" "" "" "" "RYR2(NM_001035.3):c.5508C>T (p.N1836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614636C>T" "" "likely benign" "" "0000301605" "0" "30" "1" "237778014" "237778014" "subst" "0.000990567" "02326" "RYR2_000907" "g.237778014C>T" "" "" "" "RYR2(NM_001035.2):c.5586C>T (p.D1862=), RYR2(NM_001035.3):c.5586C>T (p.D1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614714C>T" "" "likely benign" "" "0000301606" "0" "10" "1" "237778082" "237778082" "subst" "0.0155991" "02326" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614782G>A" "" "benign" "" "0000301607" "0" "50" "1" "237791371" "237791371" "subst" "8.21855E-6" "02326" "RYR2_000918" "g.237791371G>A" "" "" "" "RYR2(NM_001035.3):c.6431G>A (p.R2144H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237628071G>A" "" "VUS" "" "0000301608" "0" "10" "1" "237794708" "237794708" "subst" "0.00264809" "02326" "RYR2_000919" "g.237794708C>T" "" "" "" "RYR2(NM_001035.2):c.6441-19C>T, RYR2(NM_001035.3):c.6441-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631408C>T" "" "benign" "" "0000301609" "0" "30" "1" "237550655" "237550655" "subst" "0" "02326" "RYR2_000802" "g.237550655C>T" "" "" "" "RYR2(NM_001035.3):c.651C>T (p.I217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237387355C>T" "" "likely benign" "" "0000301610" "0" "70" "1" "237551399" "237551399" "subst" "0" "02326" "RYR2_000804" "g.237551399G>A" "" "" "" "RYR2(NM_001035.3):c.689G>A (p.G230D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237388099G>A" "" "likely pathogenic" "" "0000301611" "0" "10" "1" "237801796" "237801796" "subst" "0.00367112" "02326" "RYR2_000926" "g.237801796G>A" "" "" "" "RYR2(NM_001035.2):c.6928+4G>A, RYR2(NM_001035.3):c.6928+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638496G>A" "" "benign" "" "0000301612" "0" "30" "1" "237802481" "237802481" "subst" "0" "02326" "RYR2_000931" "g.237802481T>A" "" "" "" "RYR2(NM_001035.3):c.7095T>A (p.N2365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237639181T>A" "" "likely benign" "" "0000301613" "0" "10" "1" "237811766" "237811766" "subst" "0.00401341" "02326" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648466C>T" "" "benign" "" "0000301614" "0" "10" "1" "237811889" "237811889" "subst" "0.00385759" "02326" "RYR2_000939" "g.237811889C>T" "" "" "" "RYR2(NM_001035.2):c.7488C>T (p.L2496=), RYR2(NM_001035.3):c.7488C>T (p.L2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648589C>T" "" "benign" "" "0000301615" "0" "10" "1" "237551624" "237551624" "subst" "0" "02326" "RYR2_000806" "g.237551624C>T" "" "" "" "RYR2(NM_001035.3):c.773+141C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237388324C>T" "" "benign" "" "0000301616" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "02326" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237657976T>C" "" "likely benign" "" "0000301617" "0" "50" "1" "237823325" "237823325" "subst" "0" "02326" "RYR2_000950" "g.237823325C>A" "" "" "" "RYR2(NM_001035.3):c.8249C>A (p.S2750Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237660025C>A" "" "VUS" "" "0000301619" "0" "30" "1" "237831269" "237831269" "subst" "0" "02326" "RYR2_000954" "g.237831269C>T" "" "" "" "RYR2(NM_001035.3):c.8590+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237667969C>T" "" "likely benign" "" "0000301620" "0" "10" "1" "237838001" "237838001" "subst" "0.00649068" "02326" "RYR2_000958" "g.237838001G>A" "" "" "" "RYR2(NM_001035.3):c.8715-30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674701G>A" "" "benign" "" "0000301621" "0" "30" "1" "237838026" "237838026" "subst" "0" "02326" "RYR2_000959" "g.237838026T>C" "" "" "" "RYR2(NM_001035.3):c.8715-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674726T>C" "" "likely benign" "" "0000301622" "0" "30" "1" "237838155" "237838155" "subst" "0" "02326" "RYR2_000960" "g.237838155C>T" "" "" "" "RYR2(NM_001035.3):c.8830+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237674855C>T" "" "likely benign" "" "0000301623" "0" "10" "1" "237850666" "237850666" "subst" "0" "02326" "RYR2_000965" "g.237850666C>T" "" "" "" "RYR2(NM_001035.3):c.9018-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687366C>T" "" "benign" "" "0000301624" "0" "30" "1" "237850814" "237850814" "subst" "0.00012627" "02326" "RYR2_000966" "g.237850814C>T" "" "" "" "RYR2(NM_001035.3):c.9067+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687514C>T" "" "likely benign" "" "0000301625" "0" "10" "1" "237850816" "237850816" "subst" "0.00147556" "02326" "RYR2_000967" "g.237850816C>T" "" "" "" "RYR2(NM_001035.2):c.9067+12C>T, RYR2(NM_001035.3):c.9067+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687516C>T" "" "benign" "" "0000301626" "0" "10" "1" "237865367" "237865367" "subst" "0.00547618" "02326" "RYR2_000973" "g.237865367T>A" "" "" "" "RYR2(NM_001035.3):c.9449+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237702067T>A" "" "benign" "" "0000301627" "0" "30" "1" "237868582" "237868582" "subst" "0.000495929" "02326" "RYR2_000976" "g.237868582T>C" "" "" "" "RYR2(NM_001035.3):c.9519T>C (p.T3173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705282T>C" "" "likely benign" "" "0000301628" "0" "50" "1" "237870323" "237870323" "subst" "7.72182E-5" "02326" "RYR2_000979" "g.237870323G>A" "" "" "" "RYR2(NM_001035.3):c.9655G>A (p.V3219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707023G>A" "" "VUS" "" "0000301629" "0" "10" "1" "237870334" "237870334" "subst" "0.000764097" "02326" "RYR2_000980" "g.237870334C>T" "" "" "" "RYR2(NM_001035.2):c.9666C>T (p.A3222=), RYR2(NM_001035.3):c.9666C>T (p.A3222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707034C>T" "" "benign" "" "0000301630" "0" "50" "1" "237870335" "237870335" "subst" "3.25153E-5" "02326" "RYR2_000981" "g.237870335G>A" "" "" "" "RYR2(NM_001035.3):c.9667G>A (p.E3223K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237707035G>A" "" "VUS" "" "0000301631" "0" "30" "1" "237872144" "237872144" "subst" "0" "02326" "RYR2_000984" "g.237872144C>T" "" "" "" "RYR2(NM_001035.3):c.9902-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237708844C>T" "" "likely benign" "" "0000307536" "0" "30" "1" "237875068" "237875068" "subst" "0.00301169" "01943" "RYR2_000996" "g.237875068C>T" "" "" "" "RYR2(NM_001035.2):c.10254C>T (p.N3418=), RYR2(NM_001035.3):c.10254C>T (p.N3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237711768C>T" "" "likely benign" "" "0000307537" "0" "30" "1" "237886514" "237886514" "subst" "0.000484039" "01943" "RYR2_001002" "g.237886514G>A" "" "" "" "RYR2(NM_001035.2):c.10641G>A (p.T3547=), RYR2(NM_001035.3):c.10641G>A (p.T3547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237723214G>A" "" "likely benign" "" "0000307538" "0" "30" "1" "237893673" "237893673" "subst" "0.000338128" "01943" "RYR2_001006" "g.237893673G>T" "" "" "" "RYR2(NM_001035.2):c.10935+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237730373G>T" "" "likely benign" "" "0000307539" "0" "30" "1" "237895351" "237895351" "subst" "0.000467282" "01943" "RYR2_001010" "g.237895351T>G" "" "" "" "RYR2(NM_001035.2):c.10941T>G (p.P3647=), RYR2(NM_001035.3):c.10941T>G (p.P3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237732051T>G" "" "likely benign" "" "0000307540" "0" "30" "1" "237897038" "237897038" "subst" "0" "01943" "RYR2_001011" "g.237897038T>C" "" "" "" "RYR2(NM_001035.2):c.11073T>C (p.Y3691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237733738T>C" "" "likely benign" "" "0000307541" "0" "30" "1" "237604747" "237604747" "subst" "0.000550849" "01943" "RYR2_000817" "g.237604747C>T" "" "" "" "RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237441447C>T" "" "likely benign" "" "0000307542" "0" "50" "1" "237923148" "237923148" "subst" "3.26691E-5" "01943" "RYR2_001023" "g.237923148T>A" "" "" "" "RYR2(NM_001035.2):c.11398T>A (p.C3800S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237759848T>A" "" "VUS" "" "0000307543" "0" "10" "1" "237934206" "237934206" "subst" "0.0177073" "01943" "RYR2_001027" "g.237934206C>T" "" "" "" "RYR2(NM_001035.2):c.11557+19C>T, RYR2(NM_001035.3):c.11557+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237770906C>T" "" "benign" "" "0000307544" "0" "50" "1" "237941967" "237941967" "subst" "0" "01943" "RYR2_001033" "g.237941967G>A" "" "" "" "RYR2(NM_001035.2):c.11777G>A (p.G3926D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778667G>A" "" "VUS" "" "0000307545" "0" "10" "1" "237942025" "237942025" "subst" "0.00206812" "01943" "RYR2_001036" "g.237942025C>T" "" "" "" "RYR2(NM_001035.2):c.11835C>T (p.V3945=), RYR2(NM_001035.3):c.11835C>T (p.V3945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237778725C>T" "" "benign" "" "0000307546" "0" "10" "1" "237947000" "237947000" "subst" "0.0116749" "01943" "RYR2_001042" "g.237947000C>T" "" "" "" "RYR2(NM_001035.2):c.11988C>T (p.G3996=), RYR2(NM_001035.3):c.11988C>T (p.G3996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783700C>T" "" "benign" "" "0000307547" "0" "50" "1" "237947118" "237947118" "subst" "6.11307E-5" "01943" "RYR2_001044" "g.237947118G>A" "" "" "" "RYR2(NM_001035.2):c.12106G>A (p.D4036N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783818G>A" "" "VUS" "" "0000307548" "0" "30" "1" "237947171" "237947171" "subst" "0.000938056" "01943" "RYR2_001046" "g.237947171G>A" "" "" "" "RYR2(NM_001035.2):c.12159G>A (p.E4053=), RYR2(NM_001035.3):c.12159G>A (p.E4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783871G>A" "" "likely benign" "" "0000307549" "0" "30" "1" "237947201" "237947201" "subst" "2.04576E-5" "01943" "RYR2_001047" "g.237947201G>A" "" "" "" "RYR2(NM_001035.2):c.12189G>A (p.T4063=), RYR2(NM_001035.3):c.12189G>A (p.T4063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237783901G>A" "" "likely benign" "" "0000307550" "0" "50" "1" "237608771" "237608771" "subst" "8.13279E-6" "01943" "RYR2_000822" "g.237608771G>A" "" "" "" "RYR2(NM_001035.2):c.1241G>A (p.R414H), RYR2(NM_001035.3):c.1241G>A (p.R414H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445471G>A" "" "VUS" "" "0000307551" "0" "10" "1" "237608842" "237608842" "subst" "0.00818309" "01943" "RYR2_000824" "g.237608842C>T" "" "" "" "RYR2(NM_001035.2):c.1292+20C>T, RYR2(NM_001035.3):c.1292+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237445542C>T" "" "benign" "" "0000307552" "0" "30" "1" "237617694" "237617694" "subst" "0" "01943" "RYR2_000826" "g.237617694C>T" "" "" "" "RYR2(NM_001035.2):c.1296C>T (p.G432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454394C>T" "" "likely benign" "" "0000307553" "0" "10" "1" "237955407" "237955407" "subst" "0.000857592" "01943" "RYR2_001068" "g.237955407C>T" "" "" "" "RYR2(NM_001035.2):c.13566C>T (p.V4522=), RYR2(NM_001035.3):c.13566C>T (p.V4522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792107C>T" "" "benign" "" "0000307554" "0" "30" "1" "237955507" "237955507" "subst" "4.07037E-5" "01943" "RYR2_000658" "g.237955507G>A" "" "" "" "RYR2(NM_001035.2):c.13666G>A (p.A4556T), RYR2(NM_001035.3):c.13666G>A (p.A4556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792207G>A" "" "likely benign" "" "0000307555" "0" "10" "1" "237955581" "237955581" "subst" "0.000911" "01943" "RYR2_001073" "g.237955581G>A" "" "" "" "RYR2(NM_001035.2):c.13740G>A (p.T4580=), RYR2(NM_001035.3):c.13740G>A (p.T4580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237792281G>A" "" "benign" "" "0000307556" "0" "30" "1" "237961363" "237961363" "subst" "0.00224573" "01943" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237798063C>T" "" "likely benign" "" "0000307557" "0" "30" "1" "237982383" "237982383" "subst" "0.000954749" "01943" "RYR2_001094" "g.237982383C>A" "" "" "" "RYR2(NM_001035.2):c.14481C>A (p.I4827=), RYR2(NM_001035.3):c.14481C>A (p.I4827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237819083C>A" "" "likely benign" "" "0000307558" "0" "50" "1" "237617852" "237617852" "subst" "8.56339E-5" "01943" "RYR2_000830" "g.237617852G>A" "" "" "" "RYR2(NM_001035.2):c.1454G>A (p.R485Q, p.(Arg485Gln)), RYR2(NM_001035.3):c.1454G>A (p.R485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237454552G>A" "" "VUS" "" "0000307559" "0" "50" "1" "237991745" "237991745" "subst" "0" "01943" "RYR2_001099" "g.237991745G>A" "" "" "" "RYR2(NM_001035.2):c.14655G>A (p.E4885=), RYR2(NM_001035.3):c.14655G>A (p.E4885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237828445G>A" "" "VUS" "" "0000307560" "0" "10" "1" "237993942" "237993942" "subst" "0.00334782" "01943" "RYR2_001101" "g.237993942C>T" "" "" "" "RYR2(NM_001035.2):c.14756+12C>T, RYR2(NM_001035.3):c.14756+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237830642C>T" "" "benign" "" "0000307561" "0" "50" "1" "237994807" "237994808" "delins" "0" "01943" "RYR2_001104" "g.237994807_237994808delinsAT" "" "" "" "RYR2(NM_001035.2):c.14757-7_14757-6delTCinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831507_237831508delinsAT" "" "VUS" "" "0000307562" "0" "10" "1" "237995837" "237995837" "subst" "0.00545634" "01943" "RYR2_001108" "g.237995837C>G" "" "" "" "RYR2(NM_001035.2):c.14809-15C>G, RYR2(NM_001035.3):c.14809-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832537C>G" "" "benign" "" "0000307563" "0" "30" "1" "237995832" "237995832" "subst" "0.00401194" "01943" "RYR2_001107" "g.237995832C>T" "" "" "" "RYR2(NM_001035.2):c.14809-20C>T, RYR2(NM_001035.3):c.14809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237832532C>T" "" "likely benign" "" "0000307564" "0" "10" "1" "237619942" "237619942" "subst" "0.0035864" "01943" "RYR2_000112" "g.237619942G>A" "" "" "" "RYR2(NM_001035.2):c.1519G>A (p.V507I), RYR2(NM_001035.3):c.1519G>A (p.V507I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456642G>A" "" "benign" "" "0000307565" "0" "10" "1" "237620034" "237620034" "subst" "0.0140417" "01943" "RYR2_000836" "g.237620034G>A" "" "" "" "RYR2(NM_001035.2):c.1611G>A (p.L537=), RYR2(NM_001035.3):c.1611G>A (p.L537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237456734G>A" "" "benign" "" "0000307566" "0" "10" "1" "237656289" "237656289" "subst" "0.00469025" "01943" "RYR2_000839" "g.237656289C>T" "" "" "" "RYR2(NM_001035.2):c.1863C>T (p.H621=), RYR2(NM_001035.3):c.1863C>T (p.H621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237492989C>T" "" "benign" "" "0000307567" "0" "10" "1" "237664108" "237664108" "subst" "0.00240443" "01943" "RYR2_000849" "g.237664108G>T" "" "" "" "RYR2(NM_001035.2):c.2301G>T (p.S767=), RYR2(NM_001035.3):c.2301G>T (p.S767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237500808G>T" "" "benign" "" "0000307568" "0" "10" "1" "237666583" "237666583" "subst" "0.00379094" "01943" "RYR2_000851" "g.237666583C>T" "" "" "" "RYR2(NM_001035.2):c.2397-6C>T, RYR2(NM_001035.3):c.2397-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237503283C>T" "" "benign" "" "0000307570" "0" "30" "1" "237675029" "237675029" "subst" "0.00156191" "01943" "RYR2_000860" "g.237675029G>A" "" "" "" "RYR2(NM_001035.2):c.2760G>A (p.E920=), RYR2(NM_001035.3):c.2760G>A (p.E920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237511729G>A" "" "likely benign" "" "0000307571" "0" "30" "1" "237711862" "237711862" "subst" "0.000450974" "01943" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237548562G>A" "" "likely benign" "" "0000307572" "0" "30" "1" "237713870" "237713870" "subst" "1.67836E-5" "01943" "RYR2_000868" "g.237713870C>T" "" "" "" "RYR2(NM_001035.2):c.3093C>T (p.R1031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237550570C>T" "" "likely benign" "" "0000307573" "0" "30" "1" "237729922" "237729922" "subst" "4.06554E-6" "01943" "RYR2_000871" "g.237729922C>T" "" "" "" "RYR2(NM_001035.2):c.3270C>T (p.A1090=), RYR2(NM_001035.3):c.3270C>T (p.A1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566622C>T" "" "likely benign" "" "0000307574" "0" "10" "1" "237730059" "237730059" "subst" "0.00685678" "01943" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237566759C>T" "" "benign" "" "0000307575" "0" "30" "1" "237753202" "237753202" "subst" "0" "01943" "RYR2_000877" "g.237753202T>C" "" "" "" "RYR2(NM_001035.2):c.3708T>C (p.Y1236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237589902T>C" "" "likely benign" "" "0000307576" "0" "30" "1" "237753923" "237753923" "subst" "3.52829E-5" "01943" "RYR2_000880" "g.237753923G>A" "" "" "" "RYR2(NM_001035.2):c.3808-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237590623G>A" "" "likely benign" "" "0000307577" "0" "50" "1" "237758826" "237758826" "subst" "0.000155277" "01943" "RYR2_000888" "g.237758826T>C" "" "" "" "RYR2(NM_001035.2):c.4465T>C (p.C1489R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237595526T>C" "" "VUS" "" "0000307578" "0" "10" "1" "237774057" "237774057" "subst" "0.00368563" "01943" "RYR2_000894" "g.237774057G>C" "" "" "" "RYR2(NM_001035.2):c.4684-5G>C, RYR2(NM_001035.3):c.4684-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237610757G>C" "" "benign" "" "0000307579" "0" "10" "1" "237777417" "237777417" "subst" "0.00063042" "01943" "RYR2_000898" "g.237777417C>T" "" "" "" "RYR2(NM_001035.2):c.4989C>T (p.A1663=), RYR2(NM_001035.3):c.4989C>T (p.A1663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614117C>T" "" "benign" "" "0000307580" "0" "30" "1" "237778014" "237778014" "subst" "0.000990567" "01943" "RYR2_000907" "g.237778014C>T" "" "" "" "RYR2(NM_001035.2):c.5586C>T (p.D1862=), RYR2(NM_001035.3):c.5586C>T (p.D1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614714C>T" "" "likely benign" "" "0000307581" "0" "30" "1" "237778041" "237778041" "subst" "0.000649229" "01943" "RYR2_000908" "g.237778041C>T" "" "" "" "RYR2(NM_001035.2):c.5613C>T (p.D1871=), RYR2(NM_001035.3):c.5613C>T (p.D1871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614741C>T" "" "likely benign" "" "0000307582" "0" "10" "1" "237778082" "237778082" "subst" "0.0155991" "01943" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237614782G>A" "" "benign" "" "0000307583" "0" "30" "1" "237780570" "237780570" "subst" "4.53383E-6" "01943" "RYR2_000910" "g.237780570T>C" "" "" "" "RYR2(NM_001035.2):c.5716-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237617270T>C" "" "likely benign" "" "0000307584" "0" "10" "1" "237540742" "237540742" "subst" "0.00148016" "01943" "RYR2_000800" "g.237540742G>C" "" "" "" "RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237377442G>C" "" "benign" "" "0000307585" "0" "10" "1" "237794708" "237794708" "subst" "0.00264809" "01943" "RYR2_000919" "g.237794708C>T" "" "" "" "RYR2(NM_001035.2):c.6441-19C>T, RYR2(NM_001035.3):c.6441-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237631408C>T" "" "benign" "" "0000307586" "0" "10" "1" "237801796" "237801796" "subst" "0.00367112" "01943" "RYR2_000926" "g.237801796G>A" "" "" "" "RYR2(NM_001035.2):c.6928+4G>A, RYR2(NM_001035.3):c.6928+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237638496G>A" "" "benign" "" "0000307587" "0" "30" "1" "237806638" "237806638" "subst" "0.000154449" "01943" "RYR2_000934" "g.237806638C>T" "" "" "" "RYR2(NM_001035.2):c.7233C>T (p.A2411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237643338C>T" "" "likely benign" "" "0000307588" "0" "30" "1" "237811766" "237811766" "subst" "0.00401341" "01943" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648466C>T" "" "likely benign" "" "0000307589" "0" "10" "1" "237811889" "237811889" "subst" "0.00385759" "01943" "RYR2_000939" "g.237811889C>T" "" "" "" "RYR2(NM_001035.2):c.7488C>T (p.L2496=), RYR2(NM_001035.3):c.7488C>T (p.L2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237648589C>T" "" "benign" "" "0000307590" "0" "50" "1" "237813207" "237813207" "subst" "0" "01943" "RYR2_000942" "g.237813207G>A" "" "" "" "RYR2(NM_001035.2):c.7543G>A (p.A2515T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237649907G>A" "" "VUS" "" "0000307591" "0" "10" "1" "237829823" "237829823" "subst" "0.0106831" "01943" "RYR2_000953" "g.237829823C>T" "" "" "" "RYR2(NM_001035.2):c.8448C>T (p.D2816=), RYR2(NM_001035.3):c.8448C>T (p.D2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237666523C>T" "" "benign" "" "0000307592" "0" "30" "1" "237850816" "237850816" "subst" "0.00147556" "01943" "RYR2_000967" "g.237850816C>T" "" "" "" "RYR2(NM_001035.2):c.9067+12C>T, RYR2(NM_001035.3):c.9067+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237687516C>T" "" "likely benign" "" "0000307593" "0" "50" "1" "237868597" "237868598" "del" "0" "01943" "RYR2_000977" "g.237868597_237868598del" "" "" "" "RYR2(NM_001035.2):c.9534_9535delAT (p.H3178Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237705297_237705298del" "" "VUS" "" "0000321399" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "01804" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237657976T>C" "" "likely benign" "" "0000321400" "0" "50" "1" "237843828" "237843828" "subst" "0" "01804" "RYR2_000964" "g.237843828C>G" "" "" "" "RYR2(NM_001035.2):c.8968C>G (p.(Leu2990Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237680528C>G" "" "VUS" "" "0000321402" "0" "30" "1" "237886554" "237886554" "subst" "8.14558E-6" "01804" "RYR2_000021" "g.237886554C>G" "" "" "" "RYR2(NM_001035.2):c.10681C>G (p.(Leu3561Val)), RYR2(NM_001035.3):c.10681C>G (p.L3561V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237723254C>G" "" "likely benign" "" "0000321403" "0" "50" "1" "237994807" "237994807" "subst" "0.000215428" "01804" "RYR2_001103" "g.237994807T>A" "" "" "" "RYR2(NM_001035.2):c.14757-7T>A (p.(=)), RYR2(NM_001035.3):c.14757-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831507T>A" "" "VUS" "" "0000321404" "0" "50" "1" "237994808" "237994808" "subst" "0.00021966" "01804" "RYR2_001105" "g.237994808C>T" "" "" "" "RYR2(NM_001035.2):c.14757-6C>T (p.(=)), RYR2(NM_001035.3):c.14757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237831508C>T" "" "VUS" "" "0000341451" "0" "90" "1" "237954780" "237954780" "subst" "0" "02327" "RYR2_001066" "g.237954780G>A" "" "" "" "RYR2(NM_001035.3):c.13528G>A (p.A4510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.237791480G>A" "" "pathogenic" "" "0000405537" "0" "70" "1" "237955576" "237955576" "subst" "0" "01601" "RYR2_001111" "g.237955576C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.237792276C>T" "" "likely pathogenic" "" "0000406013" "11" "50" "1" "237711862" "237711862" "subst" "0.000450974" "02552" "RYR2_000013" "g.237711862G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs149514924" "0" "" "" "g.237548562G>A" "" "VUS" "" "0000441105" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "01164" "RYR2_000784" "g.237774125C>T" "" "" "" "" "ACMG grading: PP5,PM2,PP3; reported in Roux-Buisson (2014) Heart Rhythm 11, 1999:" "Germline" "" "rs200070226" "0" "" "" "g.237610825C>T" "" "VUS" "ACMG" "0000506275" "0" "90" "1" "237494239" "237494239" "subst" "4.06283E-6" "02330" "RYR2_000772" "g.237494239C>T" "" "" "" "RYR2(NM_001035.3):c.230C>T (p.A77V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237330939C>T" "" "pathogenic" "" "0000506276" "0" "50" "1" "237519272" "237519272" "subst" "0" "02327" "RYR2_001112" "g.237519272A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237355972A>T" "" "VUS" "" "0000506277" "0" "10" "1" "237519292" "237519293" "dup" "0" "02330" "RYR2_001113" "g.237519292_237519293dup" "" "" "" "RYR2(NM_001035.3):c.294+6_294+7dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237355992_237355993dup" "" "benign" "" "0000506278" "0" "30" "1" "237527679" "237527679" "subst" "0.000384946" "01943" "RYR2_001114" "g.237527679C>T" "" "" "" "RYR2(NM_001035.2):c.309+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237364379C>T" "" "likely benign" "" "0000506279" "0" "30" "1" "237532899" "237532899" "subst" "9.0281E-5" "01943" "RYR2_001115" "g.237532899T>C" "" "" "" "RYR2(NM_001035.2):c.375T>C (p.Y125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237369599T>C" "" "likely benign" "" "0000506280" "0" "30" "1" "237538008" "237538008" "subst" "0.000170461" "01943" "RYR2_001116" "g.237538008A>G" "" "" "" "RYR2(NM_001035.2):c.385-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237374708A>G" "" "likely benign" "" "0000506281" "0" "50" "1" "237540632" "237540632" "subst" "0" "02330" "RYR2_000799" "g.237540632G>A" "" "" "" "RYR2(NM_001035.3):c.473G>A (p.C158Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237377332G>A" "" "VUS" "" "0000506282" "0" "10" "1" "237540742" "237540742" "subst" "0.00148016" "02330" "RYR2_000800" "g.237540742G>C" "" "" "" "RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237377442G>C" "" "benign" "" "0000506283" "0" "10" "1" "237550643" "237550643" "subst" "3.25066E-5" "02330" "RYR2_001117" "g.237550643C>T" "" "" "" "RYR2(NM_001035.3):c.639C>T (p.S213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387343C>T" "" "benign" "" "0000506284" "0" "30" "1" "237550653" "237550653" "subst" "0.000158481" "01943" "RYR2_000801" "g.237550653A>G" "" "" "" "RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387353A>G" "" "likely benign" "" "0000506285" "0" "10" "1" "237551436" "237551436" "subst" "0.000284486" "02330" "RYR2_001118" "g.237551436C>T" "" "" "" "RYR2(NM_001035.2):c.726C>T (p.D242=), RYR2(NM_001035.3):c.726C>T (p.D242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237388136C>T" "" "benign" "" "0000506286" "0" "30" "1" "237551436" "237551436" "subst" "0.000284486" "01943" "RYR2_001118" "g.237551436C>T" "" "" "" "RYR2(NM_001035.2):c.726C>T (p.D242=), RYR2(NM_001035.3):c.726C>T (p.D242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237388136C>T" "" "likely benign" "" "0000506287" "0" "50" "1" "237551437" "237551437" "subst" "0" "02330" "RYR2_000743" "g.237551437G>A" "" "" "" "RYR2(NM_001035.3):c.727G>A (p.E243K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237388137G>A" "" "VUS" "" "0000506288" "0" "50" "1" "237551455" "237551455" "subst" "0" "01943" "RYR2_001119" "g.237551455T>C" "" "" "" "RYR2(NM_001035.2):c.745T>C (p.S249P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237388155T>C" "" "VUS" "" "0000506289" "0" "10" "1" "237580340" "237580341" "ins" "0" "02330" "RYR2_001120" "g.237580340_237580341insG" "" "" "" "RYR2(NM_001035.3):c.774-9_774-8insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417040_237417041insG" "" "benign" "" "0000506290" "0" "30" "1" "237580403" "237580403" "subst" "0.00026011" "01943" "RYR2_001121" "g.237580403A>G" "" "" "" "RYR2(NM_001035.2):c.828A>G (p.R276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417103A>G" "" "likely benign" "" "0000506291" "0" "50" "1" "237580411" "237580411" "subst" "1.62598E-5" "02330" "RYR2_001122" "g.237580411C>T" "" "" "" "RYR2(NM_001035.3):c.836C>T (p.T279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417111C>T" "" "VUS" "" "0000506292" "0" "50" "1" "237580411" "237580411" "subst" "1.62598E-5" "02325" "RYR2_001122" "g.237580411C>T" "" "" "" "RYR2(NM_001035.3):c.836C>T (p.T279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417111C>T" "" "VUS" "" "0000506293" "0" "50" "1" "237580411" "237580411" "subst" "1.62598E-5" "02326" "RYR2_001122" "g.237580411C>T" "" "" "" "RYR2(NM_001035.3):c.836C>T (p.T279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417111C>T" "" "VUS" "" "0000506294" "0" "10" "1" "237586384" "237586384" "subst" "0.146636" "02330" "RYR2_001123" "g.237586384T>C" "" "" "" "RYR2(NM_001035.3):c.849-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237423084T>C" "" "benign" "" "0000506295" "0" "50" "1" "237586436" "237586436" "subst" "1.62666E-5" "02330" "RYR2_001124" "g.237586436G>A" "" "" "" "RYR2(NM_001035.3):c.893G>A (p.R298H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237423136G>A" "" "VUS" "" "0000506296" "0" "30" "1" "237586561" "237586561" "subst" "0.000112563" "02326" "RYR2_000811" "g.237586561A>G" "" "" "" "RYR2(NM_001035.3):c.1005+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237423261A>G" "" "likely benign" "" "0000506297" "0" "30" "1" "237604607" "237604607" "subst" "0.000179692" "02327" "RYR2_001125" "g.237604607C>T" "" "" "" "RYR2(NM_001035.3):c.1006-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441307C>T" "" "likely benign" "" "0000506298" "0" "90" "1" "237604682" "237604682" "subst" "0" "02330" "RYR2_001126" "g.237604682G>A" "" "" "" "RYR2(NM_001035.2):c.1069G>A (p.G357S), RYR2(NM_001035.3):c.1069G>A (p.G357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441382G>A" "" "pathogenic" "" "0000506299" "0" "90" "1" "237604682" "237604682" "subst" "0" "02325" "RYR2_001126" "g.237604682G>A" "" "" "" "RYR2(NM_001035.2):c.1069G>A (p.G357S), RYR2(NM_001035.3):c.1069G>A (p.G357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441382G>A" "" "pathogenic" "" "0000506300" "0" "30" "1" "237604721" "237604721" "subst" "0.000224743" "01943" "RYR2_001127" "g.237604721C>T" "" "" "" "RYR2(NM_001035.2):c.1108C>T (p.L370=), RYR2(NM_001035.3):c.1108C>T (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441421C>T" "" "likely benign" "" "0000506301" "0" "10" "1" "237604747" "237604747" "subst" "0.000550849" "02327" "RYR2_000817" "g.237604747C>T" "" "" "" "RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441447C>T" "" "benign" "" "0000506302" "0" "30" "1" "237604748" "237604748" "subst" "0.000229728" "01943" "RYR2_001128" "g.237604748G>A" "" "" "" "RYR2(NM_001035.2):c.1135G>A (p.V379M), RYR2(NM_001035.3):c.1135G>A (p.V379M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441448G>A" "" "likely benign" "" "0000506303" "0" "30" "1" "237604748" "237604748" "subst" "0.000229728" "02326" "RYR2_001128" "g.237604748G>A" "" "" "" "RYR2(NM_001035.2):c.1135G>A (p.V379M), RYR2(NM_001035.3):c.1135G>A (p.V379M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441448G>A" "" "likely benign" "" "0000506304" "0" "30" "1" "237608748" "237608748" "subst" "0.000618022" "01943" "RYR2_000821" "g.237608748G>A" "" "" "" "RYR2(NM_001035.2):c.1218G>A (p.S406=), RYR2(NM_001035.3):c.1218G>A (p.S406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237445448G>A" "" "likely benign" "" "0000506305" "0" "30" "1" "237608748" "237608748" "subst" "0.000618022" "02326" "RYR2_000821" "g.237608748G>A" "" "" "" "RYR2(NM_001035.2):c.1218G>A (p.S406=), RYR2(NM_001035.3):c.1218G>A (p.S406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237445448G>A" "" "likely benign" "" "0000506306" "0" "10" "1" "237617677" "237617677" "subst" "4.54157E-6" "02330" "RYR2_000825" "g.237617677A>G" "" "" "" "RYR2(NM_001035.3):c.1293-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454377A>G" "" "benign" "" "0000506307" "0" "30" "1" "237617694" "237617694" "subst" "0.000239365" "01943" "RYR2_001129" "g.237617694C>A" "" "" "" "RYR2(NM_001035.2):c.1296C>A (p.G432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454394C>A" "" "likely benign" "" "0000506308" "0" "50" "1" "237617741" "237617741" "subst" "4.07448E-6" "01943" "RYR2_001130" "g.237617741C>T" "" "" "" "RYR2(NM_001035.2):c.1343C>T (p.P448L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454441C>T" "" "VUS" "" "0000506309" "0" "10" "1" "237617757" "237617757" "subst" "0.581893" "02327" "RYR2_000829" "g.237617757C>T" "" "" "" "RYR2(NM_001035.3):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454457C>T" "" "benign" "" "0000506310" "0" "50" "1" "237617790" "237617790" "subst" "5.29355E-5" "01943" "RYR2_001131" "g.237617790C>A" "" "" "" "RYR2(NM_001035.2):c.1392C>A (p.H464Q), RYR2(NM_001035.3):c.1392C>A (p.(His464Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454490C>A" "" "VUS" "" "0000506311" "0" "10" "1" "237617793" "237617793" "subst" "4.88564E-5" "02330" "RYR2_001132" "g.237617793C>A" "" "" "" "RYR2(NM_001035.2):c.1395C>A (p.P465=), RYR2(NM_001035.3):c.1395C>A (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454493C>A" "" "benign" "" "0000506312" "0" "30" "1" "237617793" "237617793" "subst" "4.88564E-5" "01943" "RYR2_001132" "g.237617793C>A" "" "" "" "RYR2(NM_001035.2):c.1395C>A (p.P465=), RYR2(NM_001035.3):c.1395C>A (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454493C>A" "" "likely benign" "" "0000506313" "0" "50" "1" "237617794" "237617794" "subst" "9.3636E-5" "02327" "RYR2_000109" "g.237617794C>G" "" "" "" "RYR2(NM_001035.3):c.1396C>G (p.(Pro466Ala), p.P466A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454494C>G" "" "VUS" "" "0000506314" "0" "50" "1" "237617794" "237617794" "subst" "9.3636E-5" "02325" "RYR2_000109" "g.237617794C>G" "" "" "" "RYR2(NM_001035.3):c.1396C>G (p.(Pro466Ala), p.P466A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454494C>G" "" "VUS" "" "0000506315" "0" "50" "1" "237617800" "237617800" "subst" "0" "02326" "RYR2_001133" "g.237617800G>A" "" "" "" "RYR2(NM_001035.3):c.1402G>A (p.E468K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454500G>A" "" "VUS" "" "0000506316" "0" "30" "1" "237617878" "237617878" "subst" "0.000147969" "01943" "RYR2_001134" "g.237617878C>T" "" "" "" "RYR2(NM_001035.2):c.1476+4C>T, RYR2(NM_001035.3):c.1476+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454578C>T" "" "likely benign" "" "0000506317" "0" "50" "1" "237617879" "237617879" "subst" "2.05878E-5" "02330" "RYR2_001135" "g.237617879G>A" "" "" "" "RYR2(NM_001035.2):c.1476+5G>A, RYR2(NM_001035.3):c.1476+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454579G>A" "" "VUS" "" "0000506318" "0" "50" "1" "237619892" "237619892" "subst" "0" "02325" "RYR2_001137" "g.237619892C>A" "" "" "" "RYR2(NM_001035.3):c.1477-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456592C>A" "" "VUS" "" "0000506319" "0" "50" "1" "237619955" "237619955" "subst" "0" "02327" "RYR2_001138" "g.237619955C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456655C>T" "" "VUS" "" "0000506320" "0" "30" "1" "237619971" "237619971" "subst" "0.000460068" "01943" "RYR2_000833" "g.237619971T>C" "" "" "" "RYR2(NM_001035.2):c.1548T>C (p.D516=), RYR2(NM_001035.3):c.1548T>C (p.D516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456671T>C" "" "likely benign" "" "0000506321" "0" "30" "1" "237619971" "237619971" "subst" "0.000460068" "02327" "RYR2_000833" "g.237619971T>C" "" "" "" "RYR2(NM_001035.2):c.1548T>C (p.D516=), RYR2(NM_001035.3):c.1548T>C (p.D516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456671T>C" "" "likely benign" "" "0000506322" "0" "50" "1" "237619997" "237619997" "subst" "1.22138E-5" "02325" "RYR2_000834" "g.237619997C>G" "" "" "" "RYR2(NM_001035.3):c.1574C>G (p.S525C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456697C>G" "" "VUS" "" "0000506324" "0" "10" "1" "237620048" "237620048" "subst" "8.98099E-5" "02330" "RYR2_001139" "g.237620048A>G" "" "" "" "RYR2(NM_001035.3):c.1612+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456748A>G" "" "benign" "" "0000506325" "0" "30" "1" "237620048" "237620048" "subst" "8.98099E-5" "02326" "RYR2_001139" "g.237620048A>G" "" "" "" "RYR2(NM_001035.3):c.1612+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456748A>G" "" "likely benign" "" "0000506326" "0" "10" "1" "237620049" "237620049" "subst" "0.556735" "02327" "RYR2_000837" "g.237620049T>C" "" "" "" "RYR2(NM_001035.3):c.1612+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456749T>C" "" "benign" "" "0000506327" "0" "70" "1" "237632425" "237632425" "subst" "0" "02330" "RYR2_000755" "g.237632425C>T" "" "" "" "RYR2(NM_001035.3):c.1646C>T (p.A549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237469125C>T" "" "likely pathogenic" "" "0000506328" "0" "10" "1" "237655173" "237655173" "subst" "0.0201305" "02327" "RYR2_000838" "g.237655173A>T" "" "" "" "RYR2(NM_001035.3):c.1776A>T (p.G592=, p.(Gly592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237491873A>T" "" "benign" "" "0000506329" "0" "10" "1" "237656289" "237656289" "subst" "0.00469025" "02327" "RYR2_000839" "g.237656289C>T" "" "" "" "RYR2(NM_001035.2):c.1863C>T (p.H621=), RYR2(NM_001035.3):c.1863C>T (p.H621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237492989C>T" "" "benign" "" "0000506330" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "02330" "RYR2_000781" "g.237656365C>T" "" "" "" "RYR2(NM_001035.2):c.1939C>T (p.R647C), RYR2(NM_001035.3):c.1939C>T (p.R647C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237493065C>T" "" "VUS" "" "0000506331" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "01943" "RYR2_000781" "g.237656365C>T" "" "" "" "RYR2(NM_001035.2):c.1939C>T (p.R647C), RYR2(NM_001035.3):c.1939C>T (p.R647C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237493065C>T" "" "VUS" "" "0000506332" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "02325" "RYR2_000781" "g.237656365C>T" "" "" "" "RYR2(NM_001035.2):c.1939C>T (p.R647C), RYR2(NM_001035.3):c.1939C>T (p.R647C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237493065C>T" "" "VUS" "" "0000506333" "0" "30" "1" "237656365" "237656365" "subst" "0.000154791" "02326" "RYR2_000781" "g.237656365C>T" "" "" "" "RYR2(NM_001035.2):c.1939C>T (p.R647C), RYR2(NM_001035.3):c.1939C>T (p.R647C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237493065C>T" "" "likely benign" "" "0000506334" "0" "10" "1" "237659895" "237659895" "subst" "0.00180316" "01943" "RYR2_000843" "g.237659895A>G" "" "" "" "RYR2(NM_001035.2):c.2046A>G (p.T682=), RYR2(NM_001035.3):c.2046A>G (p.T682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237496595A>G" "" "benign" "" "0000506335" "0" "30" "1" "237659979" "237659979" "subst" "5.28125E-5" "01943" "RYR2_001140" "g.237659979C>T" "" "" "" "RYR2(NM_001035.2):c.2130C>T (p.G710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237496679C>T" "" "likely benign" "" "0000506336" "0" "30" "1" "237660065" "237660065" "subst" "2.52806E-5" "02326" "RYR2_001141" "g.237660065C>T" "" "" "" "RYR2(NM_001035.3):c.2203+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237496765C>T" "" "likely benign" "" "0000506337" "0" "30" "1" "237664004" "237664004" "subst" "0.00964533" "01804" "RYR2_000847" "g.237664004C>G" "" "" "" "RYR2(NM_001035.2):c.2204-7C>G (p.(=)), RYR2(NM_001035.3):c.2204-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237500704C>G" "" "likely benign" "" "0000506338" "0" "10" "1" "237664060" "237664060" "subst" "0.000130008" "02330" "RYR2_001142" "g.237664060T>G" "" "" "" "RYR2(NM_001035.3):c.2253T>G (p.T751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237500760T>G" "" "benign" "" "0000506339" "0" "30" "1" "237666736" "237666736" "subst" "1.62443E-5" "02327" "RYR2_001143" "g.237666736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503436C>T" "" "likely benign" "" "0000506340" "0" "10" "1" "237666766" "237666766" "subst" "0.000146219" "02330" "RYR2_001144" "g.237666766G>A" "" "" "" "RYR2(NM_001035.2):c.2574G>A (p.T858=), RYR2(NM_001035.3):c.2574G>A (p.T858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503466G>A" "" "benign" "" "0000506341" "0" "30" "1" "237666766" "237666766" "subst" "0.000146219" "01943" "RYR2_001144" "g.237666766G>A" "" "" "" "RYR2(NM_001035.2):c.2574G>A (p.T858=), RYR2(NM_001035.3):c.2574G>A (p.T858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503466G>A" "" "likely benign" "" "0000506342" "0" "10" "1" "237666766" "237666766" "subst" "0.000146219" "02327" "RYR2_001144" "g.237666766G>A" "" "" "" "RYR2(NM_001035.2):c.2574G>A (p.T858=), RYR2(NM_001035.3):c.2574G>A (p.T858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503466G>A" "" "benign" "" "0000506343" "0" "30" "1" "237666810" "237666811" "ins" "0" "01943" "RYR2_001145" "g.237666810_237666811insTTGC" "" "" "" "RYR2(NM_001035.2):c.2613+5_2613+6insTTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503510_237503511insTTGC" "" "likely benign" "" "0000506344" "0" "10" "1" "237675029" "237675029" "subst" "0.00156191" "02327" "RYR2_000860" "g.237675029G>A" "" "" "" "RYR2(NM_001035.2):c.2760G>A (p.E920=), RYR2(NM_001035.3):c.2760G>A (p.E920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237511729G>A" "" "benign" "" "0000506345" "0" "30" "1" "237675029" "237675029" "subst" "0.00156191" "02326" "RYR2_000860" "g.237675029G>A" "" "" "" "RYR2(NM_001035.2):c.2760G>A (p.E920=), RYR2(NM_001035.3):c.2760G>A (p.E920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237511729G>A" "" "likely benign" "" "0000506346" "0" "50" "1" "237675054" "237675054" "subst" "0" "02325" "RYR2_001146" "g.237675054C>T" "" "" "" "RYR2(NM_001035.3):c.2785C>T (p.(Arg929Cys), p.R929C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237511754C>T" "" "VUS" "" "0000506347" "0" "50" "1" "237693732" "237693732" "subst" "0.000106548" "01943" "RYR2_001147" "g.237693732T>C" "" "" "" "RYR2(NM_001035.2):c.2828T>C (p.L943S), RYR2(NM_001035.3):c.2828T>C (p.L943S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237530432T>C" "" "VUS" "" "0000506348" "0" "30" "1" "237693775" "237693775" "subst" "2.10153E-5" "01943" "RYR2_001148" "g.237693775T>G" "" "" "" "RYR2(NM_001035.2):c.2871T>G (p.A957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237530475T>G" "" "likely benign" "" "0000506349" "0" "30" "1" "237711759" "237711759" "subst" "0.000142239" "02326" "RYR2_001149" "g.237711759G>T" "" "" "" "RYR2(NM_001035.3):c.2935G>T (p.A979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548459G>T" "" "likely benign" "" "0000506350" "0" "10" "1" "237711797" "237711797" "subst" "0.932851" "02327" "RYR2_000863" "g.237711797A>G" "" "" "" "RYR2(NM_001035.3):c.2973A>G (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548497A>G" "" "benign" "" "0000506351" "0" "30" "1" "237711848" "237711848" "subst" "0.000170612" "02326" "RYR2_000864" "g.237711848G>A" "" "" "" "RYR2(NM_001035.3):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548548G>A" "" "likely benign" "" "0000506352" "0" "10" "1" "237711854" "237711854" "subst" "0.00205964" "02330" "RYR2_001150" "g.237711854T>C" "" "" "" "RYR2(NM_001035.2):c.3030T>C (p.D1010=), RYR2(NM_001035.3):c.3030T>C (p.D1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548554T>C" "" "benign" "" "0000506353" "0" "10" "1" "237711854" "237711854" "subst" "0.00205964" "01943" "RYR2_001150" "g.237711854T>C" "" "" "" "RYR2(NM_001035.2):c.3030T>C (p.D1010=), RYR2(NM_001035.3):c.3030T>C (p.D1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548554T>C" "" "benign" "" "0000506354" "0" "30" "1" "237711854" "237711854" "subst" "0.00205964" "02325" "RYR2_001150" "g.237711854T>C" "" "" "" "RYR2(NM_001035.2):c.3030T>C (p.D1010=), RYR2(NM_001035.3):c.3030T>C (p.D1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548554T>C" "" "likely benign" "" "0000506355" "0" "30" "1" "237711862" "237711862" "subst" "0.000450974" "02327" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548562G>A" "" "likely benign" "" "0000506356" "0" "30" "1" "237711862" "237711862" "subst" "0.000450974" "02326" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548562G>A" "" "likely benign" "" "0000506357" "0" "50" "1" "237713904" "237713904" "subst" "0" "01943" "RYR2_001151" "g.237713904A>G" "" "" "" "RYR2(NM_001035.2):c.3127A>G (p.K1043E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550604A>G" "" "VUS" "" "0000506358" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "02330" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550629G>A" "" "VUS" "" "0000506359" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "01943" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550629G>A" "" "VUS" "" "0000506360" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "01804" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550629G>A" "" "VUS" "" "0000506361" "0" "50" "1" "237713958" "237713958" "subst" "0" "01943" "RYR2_000870" "g.237713958G>A" "" "" "" "RYR2(NM_001035.2):c.3181G>A (p.G1061S), RYR2(NM_001035.3):c.3181G>A (p.G1061S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550658G>A" "" "VUS" "" "0000506362" "0" "50" "1" "237713958" "237713958" "subst" "0" "02325" "RYR2_000870" "g.237713958G>A" "" "" "" "RYR2(NM_001035.2):c.3181G>A (p.G1061S), RYR2(NM_001035.3):c.3181G>A (p.G1061S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550658G>A" "" "VUS" "" "0000506363" "0" "50" "1" "237729903" "237729903" "subst" "0.000142297" "01943" "RYR2_001152" "g.237729903G>A" "" "" "" "RYR2(NM_001035.2):c.3251G>A (p.R1084K), RYR2(NM_001035.3):c.3251G>A (p.R1084K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566603G>A" "" "VUS" "" "0000506364" "0" "30" "1" "237729903" "237729903" "subst" "0.000142297" "02326" "RYR2_001152" "g.237729903G>A" "" "" "" "RYR2(NM_001035.2):c.3251G>A (p.R1084K), RYR2(NM_001035.3):c.3251G>A (p.R1084K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566603G>A" "" "likely benign" "" "0000506365" "0" "10" "1" "237730024" "237730024" "subst" "7.3125E-5" "02330" "RYR2_001153" "g.237730024G>A" "" "" "" "RYR2(NM_001035.3):c.3372G>A (p.P1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566724G>A" "" "benign" "" "0000506366" "0" "10" "1" "237730032" "237730032" "subst" "0.00107657" "02330" "RYR2_000660" "g.237730032A>G" "" "" "" "RYR2(NM_001035.2):c.3380A>G (p.E1127G), RYR2(NM_001035.3):c.3380A>G (p.E1127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566732A>G" "" "benign" "" "0000506367" "0" "30" "1" "237730032" "237730032" "subst" "0.00107657" "01943" "RYR2_000660" "g.237730032A>G" "" "" "" "RYR2(NM_001035.2):c.3380A>G (p.E1127G), RYR2(NM_001035.3):c.3380A>G (p.E1127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566732A>G" "" "likely benign" "" "0000506368" "0" "10" "1" "237730032" "237730032" "subst" "0.00107657" "02327" "RYR2_000660" "g.237730032A>G" "" "" "" "RYR2(NM_001035.2):c.3380A>G (p.E1127G), RYR2(NM_001035.3):c.3380A>G (p.E1127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566732A>G" "" "benign" "" "0000506369" "0" "30" "1" "237730032" "237730032" "subst" "0.00107657" "02325" "RYR2_000660" "g.237730032A>G" "" "" "" "RYR2(NM_001035.2):c.3380A>G (p.E1127G), RYR2(NM_001035.3):c.3380A>G (p.E1127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566732A>G" "" "likely benign" "" "0000506370" "0" "30" "1" "237730032" "237730032" "subst" "0.00107657" "02326" "RYR2_000660" "g.237730032A>G" "" "" "" "RYR2(NM_001035.2):c.3380A>G (p.E1127G), RYR2(NM_001035.3):c.3380A>G (p.E1127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566732A>G" "" "likely benign" "" "0000506371" "0" "30" "1" "237730059" "237730059" "subst" "0.00685678" "01804" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566759C>T" "" "likely benign" "" "0000506372" "0" "50" "1" "237732529" "237732529" "subst" "0" "02330" "RYR2_001154" "g.237732529G>A" "" "" "" "RYR2(NM_001035.3):c.3508G>A (p.E1170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237569229G>A" "" "VUS" "" "0000506373" "0" "30" "1" "237753074" "237753074" "del" "0" "02327" "RYR2_001155" "g.237753074del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237589774del" "" "likely benign" "" "0000506374" "0" "10" "1" "237753084" "237753084" "del" "0" "02327" "RYR2_000874" "g.237753084del" "" "" "" "RYR2(NM_001035.3):c.3599-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237589784del" "" "benign" "" "0000506375" "0" "30" "1" "237753190" "237753190" "subst" "0" "02327" "RYR2_001156" "g.237753190A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237589890A>G" "" "likely benign" "" "0000506376" "0" "50" "1" "237754015" "237754015" "subst" "7.83389E-5" "02327" "RYR2_001157" "g.237754015A>G" "" "" "" "RYR2(NM_001035.2):c.3883A>G (p.S1295G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590715A>G" "" "VUS" "" "0000506377" "0" "30" "1" "237754020" "237754020" "subst" "0.000648674" "01943" "RYR2_000881" "g.237754020C>T" "" "" "" "RYR2(NM_001035.2):c.3888C>T (p.N1296=), RYR2(NM_001035.3):c.3888C>T (p.N1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590720C>T" "" "likely benign" "" "0000506378" "0" "30" "1" "237754020" "237754020" "subst" "0.000648674" "02327" "RYR2_000881" "g.237754020C>T" "" "" "" "RYR2(NM_001035.2):c.3888C>T (p.N1296=), RYR2(NM_001035.3):c.3888C>T (p.N1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590720C>T" "" "likely benign" "" "0000506379" "0" "30" "1" "237754020" "237754020" "subst" "0.000648674" "02326" "RYR2_000881" "g.237754020C>T" "" "" "" "RYR2(NM_001035.2):c.3888C>T (p.N1296=), RYR2(NM_001035.3):c.3888C>T (p.N1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590720C>T" "" "likely benign" "" "0000506380" "0" "30" "1" "237754083" "237754083" "subst" "5.28773E-5" "02326" "RYR2_001158" "g.237754083G>A" "" "" "" "RYR2(NM_001035.3):c.3951G>A (p.T1317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590783G>A" "" "likely benign" "" "0000506381" "0" "50" "1" "237754142" "237754142" "subst" "2.03389E-5" "02325" "RYR2_001159" "g.237754142A>G" "" "" "" "RYR2(NM_001035.3):c.4010A>G (p.Y1337C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590842A>G" "" "VUS" "" "0000506382" "0" "50" "1" "237754208" "237754208" "subst" "1.62959E-5" "02330" "RYR2_001160" "g.237754208T>C" "" "" "" "RYR2(NM_001035.2):c.4076T>C (p.V1359A), RYR2(NM_001035.3):c.4076T>C (p.V1359A, p.(Val1359Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590908T>C" "" "VUS" "" "0000506383" "0" "30" "1" "237754208" "237754208" "subst" "1.62959E-5" "01943" "RYR2_001160" "g.237754208T>C" "" "" "" "RYR2(NM_001035.2):c.4076T>C (p.V1359A), RYR2(NM_001035.3):c.4076T>C (p.V1359A, p.(Val1359Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590908T>C" "" "likely benign" "" "0000506384" "0" "50" "1" "237755128" "237755129" "del" "0" "02330" "RYR2_001161" "g.237755128_237755129del" "" "" "" "RYR2(NM_001035.3):c.4250_4251delAT (p.Y1417*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237591828_237591829del" "" "VUS" "" "0000506385" "0" "30" "1" "237756859" "237756859" "subst" "8.13246E-6" "02327" "RYR2_001162" "g.237756859T>C" "" "" "" "RYR2(NM_001035.3):c.4359T>C (p.Y1453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237593559T>C" "" "likely benign" "" "0000506386" "0" "30" "1" "237756859" "237756859" "subst" "8.13246E-6" "02326" "RYR2_001162" "g.237756859T>C" "" "" "" "RYR2(NM_001035.3):c.4359T>C (p.Y1453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237593559T>C" "" "likely benign" "" "0000506387" "0" "50" "1" "237758806" "237758806" "subst" "0.000226788" "01943" "RYR2_000887" "g.237758806G>A" "" "" "" "RYR2(NM_001035.2):c.4445G>A (p.R1482H, p.(Arg1482His)), RYR2(NM_001035.3):c.4445G>A (p.R1482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595506G>A" "" "VUS" "" "0000506388" "0" "30" "1" "237758806" "237758806" "subst" "0.000226788" "02325" "RYR2_000887" "g.237758806G>A" "" "" "" "RYR2(NM_001035.2):c.4445G>A (p.R1482H, p.(Arg1482His)), RYR2(NM_001035.3):c.4445G>A (p.R1482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595506G>A" "" "likely benign" "" "0000506389" "0" "50" "1" "237758899" "237758899" "subst" "0" "02326" "RYR2_001163" "g.237758899C>T" "" "" "" "RYR2(NM_001035.3):c.4538C>T (p.A1513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595599C>T" "" "VUS" "" "0000506390" "0" "30" "1" "237758969" "237758969" "subst" "0.000450679" "02326" "RYR2_000889" "g.237758969G>A" "" "" "" "RYR2(NM_001035.3):c.4596+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595669G>A" "" "likely benign" "" "0000506391" "0" "30" "1" "237765333" "237765333" "subst" "0.00321094" "01943" "RYR2_000892" "g.237765333G>A" "" "" "" "RYR2(NM_001035.2):c.4605G>A (p.P1535=), RYR2(NM_001035.3):c.4605G>A (p.P1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237602033G>A" "" "likely benign" "" "0000506392" "0" "50" "1" "237765370" "237765370" "subst" "0" "01943" "RYR2_001164" "g.237765370A>G" "" "" "" "RYR2(NM_001035.2):c.4642A>G (p.T1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237602070A>G" "" "VUS" "" "0000506393" "0" "50" "1" "237774070" "237774070" "subst" "9.02434E-5" "02330" "RYR2_001165" "g.237774070G>A" "" "" "" "RYR2(NM_001035.2):c.4692G>A (p.M1564I), RYR2(NM_001035.3):c.4692G>A (p.M1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610770G>A" "" "VUS" "" "0000506394" "0" "30" "1" "237774070" "237774070" "subst" "9.02434E-5" "01943" "RYR2_001165" "g.237774070G>A" "" "" "" "RYR2(NM_001035.2):c.4692G>A (p.M1564I), RYR2(NM_001035.3):c.4692G>A (p.M1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610770G>A" "" "likely benign" "" "0000506395" "0" "30" "1" "237774070" "237774070" "subst" "9.02434E-5" "02325" "RYR2_001165" "g.237774070G>A" "" "" "" "RYR2(NM_001035.2):c.4692G>A (p.M1564I), RYR2(NM_001035.3):c.4692G>A (p.M1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610770G>A" "" "likely benign" "" "0000506396" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "02330" "RYR2_000784" "g.237774125C>T" "" "" "" "RYR2(NM_001035.2):c.4747C>T (p.P1583S), RYR2(NM_001035.3):c.4747C>T (p.P1583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610825C>T" "" "VUS" "" "0000506397" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "01943" "RYR2_000784" "g.237774125C>T" "" "" "" "RYR2(NM_001035.2):c.4747C>T (p.P1583S), RYR2(NM_001035.3):c.4747C>T (p.P1583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610825C>T" "" "VUS" "" "0000506398" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "02326" "RYR2_000784" "g.237774125C>T" "" "" "" "RYR2(NM_001035.2):c.4747C>T (p.P1583S), RYR2(NM_001035.3):c.4747C>T (p.P1583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610825C>T" "" "VUS" "" "0000506399" "0" "30" "1" "237774130" "237774130" "subst" "2.05255E-5" "02327" "RYR2_001166" "g.237774130G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610830G>A" "" "likely benign" "" "0000506400" "0" "50" "1" "237777378" "237777378" "subst" "0" "01943" "RYR2_001167" "g.237777378G>T" "" "" "" "RYR2(NM_001035.2):c.4950G>T (p.L1650F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614078G>T" "" "VUS" "" "0000506401" "0" "50" "1" "237777524" "237777524" "subst" "1.21887E-5" "02327" "RYR2_001168" "g.237777524G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614224G>A" "" "VUS" "" "0000506402" "0" "50" "1" "237777605" "237777605" "subst" "0" "01943" "RYR2_001169" "g.237777605T>A" "" "" "" "RYR2(NM_001035.2):c.5177T>A (p.I1726N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614305T>A" "" "VUS" "" "0000506403" "0" "30" "1" "237777876" "237777876" "subst" "0" "01943" "RYR2_001170" "g.237777876C>T" "" "" "" "RYR2(NM_001035.2):c.5448C>T (p.F1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614576C>T" "" "likely benign" "" "0000506404" "0" "50" "1" "237777970" "237777970" "subst" "1.62981E-5" "02327" "RYR2_001171" "g.237777970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614670C>T" "" "VUS" "" "0000506405" "0" "10" "1" "237778014" "237778014" "subst" "0.000990567" "02327" "RYR2_000907" "g.237778014C>T" "" "" "" "RYR2(NM_001035.2):c.5586C>T (p.D1862=), RYR2(NM_001035.3):c.5586C>T (p.D1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614714C>T" "" "benign" "" "0000506406" "0" "50" "1" "237778019" "237778019" "subst" "0" "02330" "RYR2_001172" "g.237778019T>C" "" "" "" "RYR2(NM_001035.3):c.5591T>C (p.L1864P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614719T>C" "" "VUS" "" "0000506407" "0" "30" "1" "237778019" "237778019" "subst" "0" "02326" "RYR2_001172" "g.237778019T>C" "" "" "" "RYR2(NM_001035.3):c.5591T>C (p.L1864P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614719T>C" "" "likely benign" "" "0000506408" "0" "50" "1" "237778081" "237778081" "subst" "0" "01943" "RYR2_001173" "g.237778081G>T" "" "" "" "RYR2(NM_001035.2):c.5653G>T (p.G1885W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614781G>T" "" "VUS" "" "0000506409" "0" "30" "1" "237778082" "237778082" "subst" "0.0155991" "01804" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614782G>A" "" "likely benign" "" "0000506410" "0" "30" "1" "237778084" "237778084" "subst" "0.0404671" "01804" "RYR2_000300" "g.237778084G>A" "" "" "" "RYR2(NM_001035.3):c.5656G>A (p.G1886S, p.(Gly1886Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614784G>A" "" "likely benign" "" "0000506411" "0" "30" "1" "237780591" "237780591" "subst" "4.14202E-6" "01943" "RYR2_001174" "g.237780591C>T" "" "" "" "RYR2(NM_001035.2):c.5721C>T (p.C1907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237617291C>T" "" "likely benign" "" "0000506412" "0" "50" "1" "237780632" "237780632" "subst" "2.03737E-5" "02327" "RYR2_001175" "g.237780632G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237617332G>A" "" "VUS" "" "0000506414" "0" "30" "1" "237787175" "237787175" "subst" "8.55167E-5" "02330" "RYR2_001177" "g.237787175G>A" "" "" "" "RYR2(NM_001035.2):c.6022+5G>A (p.?), RYR2(NM_001035.3):c.6022+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237623875G>A" "" "likely benign" "" "0000506415" "0" "50" "1" "237787175" "237787175" "subst" "8.55167E-5" "01943" "RYR2_001177" "g.237787175G>A" "" "" "" "RYR2(NM_001035.2):c.6022+5G>A (p.?), RYR2(NM_001035.3):c.6022+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237623875G>A" "" "VUS" "" "0000506416" "0" "30" "1" "237787175" "237787175" "subst" "8.55167E-5" "02327" "RYR2_001177" "g.237787175G>A" "" "" "" "RYR2(NM_001035.2):c.6022+5G>A (p.?), RYR2(NM_001035.3):c.6022+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237623875G>A" "" "likely benign" "" "0000506417" "0" "50" "1" "237787175" "237787175" "subst" "8.55167E-5" "02326" "RYR2_001177" "g.237787175G>A" "" "" "" "RYR2(NM_001035.2):c.6022+5G>A (p.?), RYR2(NM_001035.3):c.6022+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237623875G>A" "" "VUS" "" "0000506418" "0" "50" "1" "237789017" "237789017" "subst" "4.06352E-6" "02325" "RYR2_001178" "g.237789017G>A" "" "" "" "RYR2(NM_001035.3):c.6079G>A (p.G2027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237625717G>A" "" "VUS" "" "0000506419" "0" "30" "1" "237789076" "237789076" "subst" "0" "01943" "RYR2_001179" "g.237789076A>G" "" "" "" "RYR2(NM_001035.2):c.6138A>G (p.K2046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237625776A>G" "" "likely benign" "" "0000506420" "0" "30" "1" "237791276" "237791276" "subst" "2.43849E-5" "01943" "RYR2_001180" "g.237791276C>T" "" "" "" "RYR2(NM_001035.2):c.6336C>T (p.S2112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627976C>T" "" "likely benign" "" "0000506421" "0" "50" "1" "237791277" "237791277" "subst" "0.000394235" "02330" "RYR2_000335" "g.237791277G>A" "" "" "" "RYR2(NM_001035.2):c.6337G>A (p.V2113M), RYR2(NM_001035.3):c.6337G>A (p.V2113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627977G>A" "" "VUS" "" "0000506422" "0" "50" "1" "237791277" "237791277" "subst" "0.000394235" "01943" "RYR2_000335" "g.237791277G>A" "" "" "" "RYR2(NM_001035.2):c.6337G>A (p.V2113M), RYR2(NM_001035.3):c.6337G>A (p.V2113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627977G>A" "" "VUS" "" "0000506423" "0" "30" "1" "237791277" "237791277" "subst" "0.000394235" "02327" "RYR2_000335" "g.237791277G>A" "" "" "" "RYR2(NM_001035.2):c.6337G>A (p.V2113M), RYR2(NM_001035.3):c.6337G>A (p.V2113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627977G>A" "" "likely benign" "" "0000506424" "0" "30" "1" "237791277" "237791277" "subst" "0.000394235" "02325" "RYR2_000335" "g.237791277G>A" "" "" "" "RYR2(NM_001035.2):c.6337G>A (p.V2113M), RYR2(NM_001035.3):c.6337G>A (p.V2113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627977G>A" "" "likely benign" "" "0000506425" "0" "10" "1" "237791400" "237791400" "subst" "0.00276259" "02330" "RYR2_001181" "g.237791400C>T" "" "" "" "RYR2(NM_001035.3):c.6440+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237628100C>T" "" "benign" "" "0000506426" "0" "30" "1" "237791400" "237791400" "subst" "0.00276259" "02325" "RYR2_001181" "g.237791400C>T" "" "" "" "RYR2(NM_001035.3):c.6440+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237628100C>T" "" "likely benign" "" "0000506427" "0" "50" "1" "237794770" "237794770" "subst" "0" "01943" "RYR2_001182" "g.237794770A>C" "" "" "" "RYR2(NM_001035.2):c.6484A>C (p.M2162L, p.(Met2162Leu)), RYR2(NM_001035.3):c.6484A>C (p.M2162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237631470A>C" "" "VUS" "" "0000506428" "0" "30" "1" "237794770" "237794770" "subst" "0" "01804" "RYR2_001182" "g.237794770A>C" "" "" "" "RYR2(NM_001035.2):c.6484A>C (p.M2162L, p.(Met2162Leu)), RYR2(NM_001035.3):c.6484A>C (p.M2162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237631470A>C" "" "likely benign" "" "0000506429" "0" "30" "1" "237794770" "237794770" "subst" "0" "02326" "RYR2_001182" "g.237794770A>C" "" "" "" "RYR2(NM_001035.2):c.6484A>C (p.M2162L, p.(Met2162Leu)), RYR2(NM_001035.3):c.6484A>C (p.M2162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237631470A>C" "" "likely benign" "" "0000506430" "0" "30" "1" "237794849" "237794849" "subst" "0.000536826" "01943" "RYR2_000922" "g.237794849C>T" "" "" "" "RYR2(NM_001035.2):c.6555+8C>T, RYR2(NM_001035.3):c.6555+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237631549C>T" "" "likely benign" "" "0000506431" "0" "90" "1" "237796971" "237796971" "subst" "0" "02330" "RYR2_001183" "g.237796971C>T" "" "" "" "RYR2(NM_001035.3):c.6649C>T (p.H2217Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237633671C>T" "" "pathogenic" "" "0000506432" "0" "30" "1" "237798180" "237798180" "subst" "0" "02326" "RYR2_001184" "g.237798180A>C" "" "" "" "RYR2(NM_001035.3):c.6689-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237634880A>C" "" "likely benign" "" "0000506433" "0" "10" "1" "237798238" "237798238" "subst" "0.000113152" "02330" "RYR2_000924" "g.237798238G>T" "" "" "" "RYR2(NM_001035.3):c.6738G>T (p.S2246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237634938G>T" "" "benign" "" "0000506435" "0" "10" "1" "237801689" "237801689" "subst" "8.12394E-6" "02330" "RYR2_001186" "g.237801689A>G" "" "" "" "RYR2(NM_001035.3):c.6825A>G (p.Q2275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638389A>G" "" "benign" "" "0000506436" "0" "50" "1" "237801689" "237801689" "subst" "0" "02330" "RYR2_001187" "g.237801689A>T" "" "" "" "RYR2(NM_001035.3):c.6825A>T (p.Q2275H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638389A>T" "" "VUS" "" "0000506437" "0" "30" "1" "237801698" "237801698" "subst" "0" "02325" "RYR2_001188" "g.237801698G>C" "" "" "" "RYR2(NM_001035.3):c.6834G>C (p.Q2278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638398G>C" "" "likely benign" "" "0000506438" "0" "10" "1" "237801796" "237801796" "subst" "0.00367112" "02327" "RYR2_000926" "g.237801796G>A" "" "" "" "RYR2(NM_001035.2):c.6928+4G>A, RYR2(NM_001035.3):c.6928+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638496G>A" "" "benign" "" "0000506439" "0" "50" "1" "237802338" "237802338" "subst" "8.12711E-6" "01943" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237639038A>G" "" "VUS" "" "0000506440" "0" "30" "1" "237802338" "237802338" "subst" "8.12711E-6" "02326" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237639038A>G" "" "likely benign" "" "0000506441" "0" "50" "1" "237802395" "237802395" "subst" "0" "02330" "RYR2_001189" "g.237802395G>A" "" "" "" "RYR2(NM_001035.3):c.7009G>A (p.G2337R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237639095G>A" "" "VUS" "" "0000506442" "0" "70" "1" "237804240" "237804240" "subst" "0" "02330" "RYR2_001190" "g.237804240G>A" "" "" "" "RYR2(NM_001035.3):c.7159G>A (p.A2387T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237640940G>A" "" "likely pathogenic" "" "0000506443" "0" "10" "1" "237806615" "237806615" "dup" "0" "02330" "RYR2_001191" "g.237806615dup" "" "" "" "RYR2(NM_001035.3):c.7222-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237643315dup" "" "benign" "" "0000506444" "0" "30" "1" "237806619" "237806619" "subst" "0" "02326" "RYR2_001192" "g.237806619C>T" "" "" "" "RYR2(NM_001035.3):c.7222-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237643319C>T" "" "likely benign" "" "0000506445" "0" "30" "1" "237806619" "237806619" "del" "0" "02327" "RYR2_001193" "g.237806619del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237643319del" "" "likely benign" "" "0000506446" "0" "30" "1" "237806695" "237806695" "subst" "3.65571E-5" "02327" "RYR2_001194" "g.237806695A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237643395A>G" "" "likely benign" "" "0000506447" "0" "30" "1" "237811735" "237811735" "subst" "0.000437778" "01943" "RYR2_001195" "g.237811735C>T" "" "" "" "RYR2(NM_001035.2):c.7343-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237648435C>T" "" "likely benign" "" "0000506448" "0" "10" "1" "237811889" "237811889" "subst" "0.00385759" "02327" "RYR2_000939" "g.237811889C>T" "" "" "" "RYR2(NM_001035.2):c.7488C>T (p.L2496=), RYR2(NM_001035.3):c.7488C>T (p.L2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237648589C>T" "" "benign" "" "0000506450" "0" "50" "1" "237813207" "237813207" "subst" "0" "02327" "RYR2_000942" "g.237813207G>A" "" "" "" "RYR2(NM_001035.2):c.7543G>A (p.A2515T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237649907G>A" "" "VUS" "" "0000506451" "0" "50" "1" "237813217" "237813217" "subst" "0" "02326" "RYR2_001196" "g.237813217G>A" "" "" "" "RYR2(NM_001035.3):c.7553G>A (p.R2518Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237649917G>A" "" "VUS" "" "0000506452" "0" "50" "1" "237813223" "237813223" "subst" "0" "02325" "RYR2_001197" "g.237813223T>G" "" "" "" "RYR2(NM_001035.3):c.7559T>G (p.L2520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237649923T>G" "" "VUS" "" "0000506453" "0" "30" "1" "237813283" "237813283" "subst" "0.000158382" "01943" "RYR2_000943" "g.237813283A>G" "" "" "" "RYR2(NM_001035.2):c.7619A>G (p.H2540R), RYR2(NM_001035.3):c.7619A>G (p.H2540R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237649983A>G" "" "likely benign" "" "0000506454" "0" "10" "1" "237817615" "237817615" "subst" "0" "02330" "RYR2_001198" "g.237817615C>T" "" "" "" "RYR2(NM_001035.3):c.7866C>T (p.C2622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237654315C>T" "" "benign" "" "0000506455" "0" "50" "1" "237817626" "237817626" "subst" "4.06237E-6" "01943" "RYR2_001199" "g.237817626G>T" "" "" "" "RYR2(NM_001035.2):c.7877G>T (p.G2626V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237654326G>T" "" "VUS" "" "0000506456" "0" "50" "1" "237819203" "237819203" "subst" "0" "01943" "RYR2_001200" "g.237819203C>T" "" "" "" "RYR2(NM_001035.2):c.8048C>T (p.S2683L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237655903C>T" "" "VUS" "" "0000506457" "0" "50" "1" "237819218" "237819218" "subst" "4.08958E-6" "01943" "RYR2_001201" "g.237819218T>A" "" "" "" "RYR2(NM_001035.2):c.8063T>A (p.M2688K), RYR2(NM_001035.3):c.8063T>A (p.M2688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237655918T>A" "" "VUS" "" "0000506458" "0" "50" "1" "237821259" "237821259" "subst" "0.000138143" "02325" "RYR2_000948" "g.237821259G>T" "" "" "" "RYR2(NM_001035.2):c.8145G>T (p.E2715D), RYR2(NM_001035.3):c.8145G>T (p.E2715D, p.(Glu2715Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657959G>T" "" "VUS" "" "0000506459" "0" "50" "1" "237821261" "237821261" "subst" "4.5873E-5" "02330" "RYR2_001202" "g.237821261A>T" "" "" "" "RYR2(NM_001035.2):c.8147A>T (p.K2716I), RYR2(NM_001035.3):c.8147A>T (p.K2716I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657961A>T" "" "VUS" "" "0000506460" "0" "50" "1" "237821261" "237821261" "subst" "4.5873E-5" "01943" "RYR2_001202" "g.237821261A>T" "" "" "" "RYR2(NM_001035.2):c.8147A>T (p.K2716I), RYR2(NM_001035.3):c.8147A>T (p.K2716I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657961A>T" "" "VUS" "" "0000506461" "0" "50" "1" "237821261" "237821261" "subst" "4.5873E-5" "02325" "RYR2_001202" "g.237821261A>T" "" "" "" "RYR2(NM_001035.2):c.8147A>T (p.K2716I), RYR2(NM_001035.3):c.8147A>T (p.K2716I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657961A>T" "" "VUS" "" "0000506462" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "01943" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657976T>C" "" "likely benign" "" "0000506463" "0" "30" "1" "237821276" "237821276" "subst" "0.000608931" "02327" "RYR2_000002" "g.237821276T>C" "" "" "" "RYR2(NM_001035.2):c.8162T>C (p.I2721T, p.(Ile2721Thr)), RYR2(NM_001035.3):c.8162T>C (p.I2721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657976T>C" "" "likely benign" "" "0000506464" "0" "50" "1" "237824125" "237824125" "subst" "0" "01943" "RYR2_001203" "g.237824125C>T" "" "" "" "RYR2(NM_001035.2):c.8314C>T (p.R2772C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237660825C>T" "" "VUS" "" "0000506465" "0" "30" "1" "237824262" "237824262" "subst" "3.5466E-5" "02326" "RYR2_001204" "g.237824262C>T" "" "" "" "RYR2(NM_001035.3):c.8436+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237660962C>T" "" "likely benign" "" "0000506466" "0" "10" "1" "237829805" "237829805" "dup" "0" "02330" "RYR2_001110" "g.237829805dup" "" "" "" "RYR2(NM_001035.3):c.8437-6delAinsGA, RYR2(NM_001035.3):c.8437-7dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666505dup" "" "benign" "" "0000506467" "0" "10" "1" "237829805" "237829805" "dup" "0" "02326" "RYR2_001110" "g.237829805dup" "" "" "" "RYR2(NM_001035.3):c.8437-6delAinsGA, RYR2(NM_001035.3):c.8437-7dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666505dup" "" "benign" "" "0000506469" "0" "50" "1" "237829818" "237829818" "subst" "4.11658E-6" "01943" "RYR2_001206" "g.237829818G>A" "" "" "" "RYR2(NM_001035.2):c.8443G>A (p.V2815M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666518G>A" "" "VUS" "" "0000506470" "0" "10" "1" "237829823" "237829823" "subst" "0.0106831" "02327" "RYR2_000953" "g.237829823C>T" "" "" "" "RYR2(NM_001035.2):c.8448C>T (p.D2816=), RYR2(NM_001035.3):c.8448C>T (p.D2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666523C>T" "" "benign" "" "0000506471" "0" "30" "1" "237837448" "237837448" "subst" "4.06517E-6" "02326" "RYR2_000957" "g.237837448G>A" "" "" "" "RYR2(NM_001035.2):c.8643G>A (p.E2881=), RYR2(NM_001035.3):c.8643G>A (p.E2881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237674148G>A" "" "likely benign" "" "0000506472" "0" "10" "1" "237838136" "237838136" "subst" "0" "02330" "RYR2_001207" "g.237838136C>T" "" "" "" "RYR2(NM_001035.3):c.8820C>T (p.I2940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237674836C>T" "" "benign" "" "0000506473" "0" "30" "1" "237841339" "237841339" "subst" "0.00023801" "02326" "RYR2_001208" "g.237841339A>C" "" "" "" "RYR2(NM_001035.3):c.8831-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237678039A>C" "" "likely benign" "" "0000506474" "0" "10" "1" "237841390" "237841390" "subst" "0.214321" "02327" "RYR2_000961" "g.237841390A>G" "" "" "" "RYR2(NM_001035.3):c.8873A>G (p.Q2958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237678090A>G" "" "benign" "" "0000506475" "0" "10" "1" "237850816" "237850816" "subst" "0.00147556" "02327" "RYR2_000967" "g.237850816C>T" "" "" "" "RYR2(NM_001035.2):c.9067+12C>T, RYR2(NM_001035.3):c.9067+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237687516C>T" "" "benign" "" "0000506476" "0" "30" "1" "237863590" "237863590" "subst" "0.000114525" "02326" "RYR2_000971" "g.237863590G>A" "" "" "" "RYR2(NM_001035.3):c.9190G>A (p.A3064T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700290G>A" "" "likely benign" "" "0000506477" "0" "50" "1" "237863620" "237863620" "subst" "0" "02330" "RYR2_001209" "g.237863620A>G" "" "" "" "RYR2(NM_001035.3):c.9220A>G (p.N3074D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700320A>G" "" "VUS" "" "0000506478" "0" "50" "1" "237863659" "237863659" "subst" "0" "02326" "RYR2_001210" "g.237863659C>T" "" "" "" "RYR2(NM_001035.3):c.9259C>T (p.P3087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700359C>T" "" "VUS" "" "0000506479" "0" "50" "1" "237865307" "237865307" "subst" "0" "01943" "RYR2_001211" "g.237865307A>G" "" "" "" "RYR2(NM_001035.2):c.9397A>G (p.I3133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237702007A>G" "" "VUS" "" "0000506480" "0" "30" "1" "237865367" "237865367" "subst" "0.00547618" "01804" "RYR2_000973" "g.237865367T>A" "" "" "" "RYR2(NM_001035.3):c.9449+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237702067T>A" "" "likely benign" "" "0000506481" "0" "30" "1" "237868510" "237868510" "subst" "0.000396051" "01943" "RYR2_001212" "g.237868510T>C" "" "" "" "RYR2(NM_001035.2):c.9450-3T>C (p.?), RYR2(NM_001035.3):c.9450-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237705210T>C" "" "likely benign" "" "0000506482" "0" "30" "1" "237870323" "237870323" "subst" "7.72182E-5" "02327" "RYR2_000979" "g.237870323G>A" "" "" "" "RYR2(NM_001035.3):c.9655G>A (p.V3219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237707023G>A" "" "likely benign" "" "0000506483" "0" "10" "1" "237870334" "237870334" "subst" "0.000764097" "01943" "RYR2_000980" "g.237870334C>T" "" "" "" "RYR2(NM_001035.2):c.9666C>T (p.A3222=), RYR2(NM_001035.3):c.9666C>T (p.A3222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237707034C>T" "" "benign" "" "0000506484" "0" "50" "1" "237870411" "237870411" "subst" "1.62648E-5" "02330" "RYR2_001213" "g.237870411G>A" "" "" "" "RYR2(NM_001035.3):c.9743G>A (p.R3248H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237707111G>A" "" "VUS" "" "0000506485" "0" "10" "1" "237870535" "237870535" "subst" "0.00073889" "02326" "RYR2_001214" "g.237870535G>A" "" "" "" "RYR2(NM_001035.3):c.9867G>A (p.G3289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237707235G>A" "" "benign" "" "0000506486" "0" "10" "1" "237872219" "237872219" "subst" "0.000139419" "02330" "RYR2_000986" "g.237872219G>A" "" "" "" "RYR2(NM_001035.3):c.9963G>A (p.P3321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237708919G>A" "" "benign" "" "0000506487" "0" "30" "1" "237872273" "237872273" "subst" "0.000118021" "01943" "RYR2_000989" "g.237872273C>T" "" "" "" "RYR2(NM_001035.2):c.10017C>T (p.H3339=), RYR2(NM_001035.3):c.10017C>T (p.H3339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237708973C>T" "" "likely benign" "" "0000506488" "0" "70" "1" "237872335" "237872335" "subst" "4.07097E-6" "02327" "RYR2_001215" "g.237872335C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709035C>T" "" "likely pathogenic" "" "0000506489" "0" "10" "1" "237872762" "237872762" "subst" "0.0171871" "02327" "RYR2_000992" "g.237872762A>G" "" "" "" "RYR2(NM_001035.2):c.10143-18A>G, RYR2(NM_001035.3):c.10143-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709462A>G" "" "benign" "" "0000506490" "0" "10" "1" "237872887" "237872887" "subst" "0.0112263" "02330" "RYR2_001216" "g.237872887T>C" "" "" "" "RYR2(NM_001035.2):c.10230+20T>C, RYR2(NM_001035.3):c.10230+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709587T>C" "" "benign" "" "0000506491" "0" "10" "1" "237872887" "237872887" "subst" "0.0112263" "01943" "RYR2_001216" "g.237872887T>C" "" "" "" "RYR2(NM_001035.2):c.10230+20T>C, RYR2(NM_001035.3):c.10230+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709587T>C" "" "benign" "" "0000506492" "0" "10" "1" "237872887" "237872887" "subst" "0.0112263" "02327" "RYR2_001216" "g.237872887T>C" "" "" "" "RYR2(NM_001035.2):c.10230+20T>C, RYR2(NM_001035.3):c.10230+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709587T>C" "" "benign" "" "0000506493" "0" "30" "1" "237872887" "237872887" "subst" "0.0112263" "02325" "RYR2_001216" "g.237872887T>C" "" "" "" "RYR2(NM_001035.2):c.10230+20T>C, RYR2(NM_001035.3):c.10230+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709587T>C" "" "likely benign" "" "0000506494" "0" "10" "1" "237875040" "237875040" "subst" "0.000527605" "02330" "RYR2_001217" "g.237875040C>T" "" "" "" "RYR2(NM_001035.2):c.10231-5C>T (p.?), RYR2(NM_001035.3):c.10231-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711740C>T" "" "benign" "" "0000506495" "0" "30" "1" "237875040" "237875040" "subst" "0.000527605" "02326" "RYR2_001217" "g.237875040C>T" "" "" "" "RYR2(NM_001035.2):c.10231-5C>T (p.?), RYR2(NM_001035.3):c.10231-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711740C>T" "" "likely benign" "" "0000506496" "0" "30" "1" "237875041" "237875041" "subst" "0.000731164" "02325" "RYR2_001218" "g.237875041T>C" "" "" "" "RYR2(NM_001035.3):c.10231-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711741T>C" "" "likely benign" "" "0000506497" "0" "30" "1" "237875041" "237875041" "subst" "0.000731164" "02326" "RYR2_001218" "g.237875041T>C" "" "" "" "RYR2(NM_001035.3):c.10231-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711741T>C" "" "likely benign" "" "0000506498" "0" "50" "1" "237875075" "237875075" "subst" "0" "02327" "RYR2_001219" "g.237875075G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711775G>C" "" "VUS" "" "0000506499" "0" "10" "1" "237880494" "237880494" "subst" "0.00189496" "02327" "RYR2_000020" "g.237880494A>G" "" "" "" "RYR2(NM_001035.2):c.10324-4A>G, RYR2(NM_001035.3):c.10324-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237717194A>G" "" "benign" "" "0000506500" "0" "30" "1" "237880544" "237880544" "subst" "8.13478E-6" "01943" "RYR2_001220" "g.237880544A>C" "" "" "" "RYR2(NM_001035.2):c.10370A>C (p.D3457A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237717244A>C" "" "likely benign" "" "0000506501" "0" "10" "1" "237881770" "237881770" "subst" "0.990616" "02327" "RYR2_000999" "g.237881770C>T" "" "" "" "RYR2(NM_001035.3):c.10503C>T (p.T3501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237718470C>T" "" "benign" "" "0000506502" "0" "10" "1" "237881790" "237881790" "subst" "3.66664E-5" "01943" "RYR2_001221" "g.237881790T>C" "" "" "" "RYR2(NM_001035.2):c.10523T>C (p.I3508T), RYR2(NM_001035.3):c.10523T>C (p.I3508T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237718490T>C" "" "benign" "" "0000506503" "0" "30" "1" "237881790" "237881790" "subst" "3.66664E-5" "02326" "RYR2_001221" "g.237881790T>C" "" "" "" "RYR2(NM_001035.2):c.10523T>C (p.I3508T), RYR2(NM_001035.3):c.10523T>C (p.I3508T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237718490T>C" "" "likely benign" "" "0000506504" "0" "30" "1" "237890461" "237890461" "subst" "0" "02327" "RYR2_001222" "g.237890461A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237727161A>C" "" "likely benign" "" "0000506505" "0" "30" "1" "237890461" "237890463" "delins" "0" "02327" "RYR2_001223" "g.237890461_237890463delinsCTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237727161_237727163delinsCTT" "" "likely benign" "" "0000506506" "0" "30" "1" "237890462" "237890462" "subst" "0" "02327" "RYR2_001224" "g.237890462G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237727162G>T" "" "likely benign" "" "0000506507" "0" "50" "1" "237890465" "237890465" "subst" "0" "02327" "RYR2_001225" "g.237890465T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237727165T>A" "" "VUS" "" "0000506508" "0" "50" "1" "237890477" "237890477" "subst" "0" "02326" "RYR2_001226" "g.237890477G>A" "" "" "" "RYR2(NM_001035.3):c.10816G>A (p.A3606T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237727177G>A" "" "VUS" "" "0000506509" "0" "30" "1" "237919623" "237919623" "subst" "8.14186E-6" "01943" "RYR2_001227" "g.237919623G>A" "" "" "" "RYR2(NM_001035.2):c.11181G>A (p.Q3727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237756323G>A" "" "likely benign" "" "0000506510" "0" "50" "1" "237919624" "237919624" "subst" "0" "02330" "RYR2_001228" "g.237919624C>A" "" "" "" "RYR2(NM_001035.3):c.11182C>A (p.Q3728K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237756324C>A" "" "VUS" "" "0000506511" "0" "50" "1" "237923079" "237923079" "subst" "0" "02327" "RYR2_001229" "g.237923079A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237759779A>G" "" "VUS" "" "0000506512" "0" "30" "1" "237934087" "237934087" "subst" "0" "02327" "RYR2_001230" "g.237934087T>A" "" "" "" "RYR2(NM_001035.3):c.11477-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237770787T>A" "" "likely benign" "" "0000506513" "0" "10" "1" "237934206" "237934206" "subst" "0.0177073" "02327" "RYR2_001027" "g.237934206C>T" "" "" "" "RYR2(NM_001035.2):c.11557+19C>T, RYR2(NM_001035.3):c.11557+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237770906C>T" "" "benign" "" "0000506514" "0" "30" "1" "237936939" "237936939" "subst" "4.4989E-5" "02326" "RYR2_001031" "g.237936939G>A" "" "" "" "RYR2(NM_001035.2):c.11766G>A (p.E3922=), RYR2(NM_001035.3):c.11766G>A (p.E3922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237773639G>A" "" "likely benign" "" "0000506515" "0" "30" "1" "237942049" "237942049" "subst" "4.07209E-6" "01943" "RYR2_001231" "g.237942049T>C" "" "" "" "RYR2(NM_001035.2):c.11859T>C (p.H3953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237778749T>C" "" "likely benign" "" "0000506516" "0" "10" "1" "237942086" "237942086" "subst" "0.000824752" "02330" "RYR2_001232" "g.237942086G>A" "" "" "" "RYR2(NM_001035.3):c.11880+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237778786G>A" "" "benign" "" "0000506517" "0" "50" "1" "237947208" "237947208" "subst" "0" "02327" "RYR2_001233" "g.237947208C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783908C>T" "" "VUS" "" "0000506518" "0" "30" "1" "237947219" "237947219" "subst" "1.22876E-5" "02327" "RYR2_001048" "g.237947219T>C" "" "" "" "RYR2(NM_001035.2):c.12207T>C (p.C4069=), RYR2(NM_001035.3):c.12207T>C (p.C4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783919T>C" "" "likely benign" "" "0000506519" "0" "30" "1" "237947219" "237947219" "subst" "1.22876E-5" "02326" "RYR2_001048" "g.237947219T>C" "" "" "" "RYR2(NM_001035.2):c.12207T>C (p.C4069=), RYR2(NM_001035.3):c.12207T>C (p.C4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783919T>C" "" "likely benign" "" "0000506520" "0" "70" "1" "237947320" "237947320" "subst" "0" "02330" "RYR2_001234" "g.237947320C>T" "" "" "" "RYR2(NM_001035.3):c.12308C>T (p.T4103I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784020C>T" "" "likely pathogenic" "" "0000506521" "0" "90" "1" "237947453" "237947453" "subst" "0" "02330" "RYR2_001235" "g.237947453G>T" "" "" "" "RYR2(NM_001035.3):c.12441G>T (p.R4147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784153G>T" "" "pathogenic" "" "0000506522" "0" "50" "1" "237947532" "237947532" "subst" "0" "02330" "RYR2_001236" "g.237947532T>C" "" "" "" "RYR2(NM_001035.3):c.12520T>C (p.F4174L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784232T>C" "" "VUS" "" "0000506523" "0" "50" "1" "237947601" "237947601" "subst" "4.06762E-6" "02326" "RYR2_001237" "g.237947601A>G" "" "" "" "RYR2(NM_001035.3):c.12589A>G (p.I4197V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784301A>G" "" "VUS" "" "0000506524" "0" "70" "1" "237947632" "237947632" "subst" "0" "01943" "RYR2_001054" "g.237947632C>T" "" "" "" "RYR2(NM_001035.2):c.12620C>T (p.S4207L), RYR2(NM_001035.3):c.12620C>T (p.S4207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784332C>T" "" "likely pathogenic" "" "0000506525" "0" "30" "1" "237947652" "237947652" "subst" "0" "01943" "RYR2_001238" "g.237947652A>C" "" "" "" "RYR2(NM_001035.2):c.12640A>C (p.R4214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784352A>C" "" "likely benign" "" "0000506526" "0" "10" "1" "237947672" "237947672" "subst" "0" "02330" "RYR2_001239" "g.237947672A>G" "" "" "" "RYR2(NM_001035.3):c.12660A>G (p.E4220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784372A>G" "" "benign" "" "0000506527" "0" "50" "1" "237947675" "237947675" "subst" "0.000122191" "02327" "RYR2_001240" "g.237947675C>T" "" "" "" "RYR2(NM_001035.2):c.12663C>T (p.S4221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784375C>T" "" "VUS" "" "0000506528" "0" "50" "1" "237947931" "237947931" "subst" "0.000333765" "01943" "RYR2_000627" "g.237947931C>T" "" "" "" "RYR2(NM_001035.2):c.12919C>T (p.R4307C), RYR2(NM_001035.3):c.12919C>T (p.R4307C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784631C>T" "" "VUS" "" "0000506529" "0" "30" "1" "237947931" "237947931" "subst" "0.000333765" "02326" "RYR2_000627" "g.237947931C>T" "" "" "" "RYR2(NM_001035.2):c.12919C>T (p.R4307C), RYR2(NM_001035.3):c.12919C>T (p.R4307C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784631C>T" "" "likely benign" "" "0000506530" "0" "50" "1" "237947968" "237947968" "subst" "0" "02327" "RYR2_001241" "g.237947968T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784668T>G" "" "VUS" "" "0000506531" "0" "30" "1" "237948105" "237948105" "subst" "3.26616E-5" "02327" "RYR2_001242" "g.237948105G>A" "" "" "" "RYR2(NM_001035.3):c.13093G>A (p.D4365N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784805G>A" "" "likely benign" "" "0000506532" "0" "30" "1" "237948149" "237948149" "subst" "0.00015068" "02327" "RYR2_001059" "g.237948149C>A" "" "" "" "RYR2(NM_001035.3):c.13137C>A (p.I4379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784849C>A" "" "likely benign" "" "0000506533" "0" "50" "1" "237948225" "237948225" "subst" "0" "02327" "RYR2_001243" "g.237948225C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784925C>G" "" "VUS" "" "0000506534" "0" "10" "1" "237948286" "237948286" "subst" "0.00926908" "02327" "RYR2_001062" "g.237948286A>G" "" "" "" "RYR2(NM_001035.2):c.13260+14A>G, RYR2(NM_001035.3):c.13260+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784986A>G" "" "benign" "" "0000506535" "0" "50" "1" "237949287" "237949287" "subst" "0" "02327" "RYR2_001244" "g.237949287G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237785987G>T" "" "VUS" "" "0000506537" "0" "30" "1" "237955364" "237955364" "subst" "0.0439079" "02327" "RYR2_001067" "g.237955364A>G" "" "" "" "RYR2(NM_001035.3):c.13564-41A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792064A>G" "" "likely benign" "" "0000506538" "0" "10" "1" "237955407" "237955407" "subst" "0.000857592" "02330" "RYR2_001068" "g.237955407C>T" "" "" "" "RYR2(NM_001035.2):c.13566C>T (p.V4522=), RYR2(NM_001035.3):c.13566C>T (p.V4522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792107C>T" "" "benign" "" "0000506540" "0" "50" "1" "237955424" "237955424" "subst" "0" "02326" "RYR2_001246" "g.237955424T>C" "" "" "" "RYR2(NM_001035.3):c.13583T>C (p.V4528A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792124T>C" "" "VUS" "" "0000506541" "0" "30" "1" "237955434" "237955434" "subst" "1.2978E-5" "02327" "RYR2_001069" "g.237955434G>A" "" "" "" "RYR2(NM_001035.3):c.13593G>A (p.K4531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792134G>A" "" "likely benign" "" "0000506542" "0" "10" "1" "237955497" "237955497" "subst" "0.000390959" "02327" "RYR2_001247" "g.237955497T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792197T>C" "" "benign" "" "0000506543" "0" "70" "1" "237957276" "237957276" "subst" "0" "02327" "RYR2_001248" "g.237957276A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237793976A>T" "" "likely pathogenic" "" "0000506544" "0" "30" "1" "237958640" "237958643" "del" "0" "02326" "RYR2_001076" "g.237958640_237958643del" "" "" "" "RYR2(NM_001035.3):c.13956+9_13956+12delACTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237795340_237795343del" "" "likely benign" "" "0000506545" "0" "30" "1" "237961332" "237961332" "subst" "2.94791E-5" "02330" "RYR2_001249" "g.237961332C>G" "" "" "" "RYR2(NM_001035.3):c.13957-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798032C>G" "" "likely benign" "" "0000506547" "0" "50" "1" "237961349" "237961362" "dup" "0" "02330" "RYR2_001251" "g.237961349_237961362dup" "" "" "" "RYR2(NM_001035.2):c.13967_13968insATATGGAGAGTTCT (p.(Gly4662MetfsTer42)), RYR2(NM_001035.3):c.13969_13982dupTATGGAGAGTTCTA (p.G4662Mfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798049_237798062dup" "" "VUS" "" "0000506548" "0" "10" "1" "237961363" "237961363" "subst" "0.00224573" "02327" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798063C>T" "" "benign" "" "0000506549" "0" "30" "1" "237961409" "237961409" "subst" "0.00103133" "01943" "RYR2_001080" "g.237961409C>T" "" "" "" "RYR2(NM_001035.2):c.14029C>T (p.L4677=), RYR2(NM_001035.3):c.14029C>T (p.L4677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798109C>T" "" "likely benign" "" "0000506550" "0" "30" "1" "237961484" "237961484" "subst" "0.000205253" "02326" "RYR2_001252" "g.237961484C>T" "" "" "" "RYR2(NM_001035.3):c.14090+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798184C>T" "" "likely benign" "" "0000506551" "0" "10" "1" "237965143" "237965145" "dup" "0" "02330" "RYR2_001253" "g.237965143_237965145dup" "" "" "" "RYR2(NM_001035.3):c.14091-13_14091-11dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237801843_237801845dup" "" "benign" "" "0000506552" "0" "10" "1" "237965145" "237965145" "dup" "0" "02330" "RYR2_001085" "g.237965145dup" "" "" "" "RYR2(NM_001035.3):c.14091-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237801845dup" "" "benign" "" "0000506553" "0" "30" "1" "237969422" "237969422" "subst" "2.85934E-5" "02326" "RYR2_001254" "g.237969422G>A" "" "" "" "RYR2(NM_001035.3):c.14152-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237806122G>A" "" "likely benign" "" "0000506554" "0" "10" "1" "237972189" "237972189" "subst" "0.00844084" "02327" "RYR2_001090" "g.237972189A>G" "" "" "" "RYR2(NM_001035.2):c.14299-12A>G, RYR2(NM_001035.3):c.14299-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237808889A>G" "" "benign" "" "0000506555" "0" "10" "1" "237972254" "237972254" "subst" "4.06237E-6" "02330" "RYR2_001255" "g.237972254G>A" "" "" "" "RYR2(NM_001035.3):c.14352G>A (p.V4784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237808954G>A" "" "benign" "" "0000506556" "0" "30" "1" "237982386" "237982386" "subst" "0.000170611" "01943" "RYR2_001096" "g.237982386G>T" "" "" "" "RYR2(NM_001035.2):c.14484G>T (p.G4828=), RYR2(NM_001035.3):c.14484G>T (p.G4828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237819086G>T" "" "likely benign" "" "0000506557" "0" "70" "1" "237991698" "237991698" "subst" "0" "02330" "RYR2_001256" "g.237991698T>G" "" "" "" "RYR2(NM_001035.3):c.14608T>G (p.F4870V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237828398T>G" "" "likely pathogenic" "" "0000506558" "0" "30" "1" "237993832" "237993832" "subst" "4.0622E-6" "02326" "RYR2_001257" "g.237993832C>G" "" "" "" "RYR2(NM_001035.3):c.14658C>G (p.T4886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237830532C>G" "" "likely benign" "" "0000506559" "0" "10" "1" "237994807" "237994807" "subst" "0.000215428" "02330" "RYR2_001103" "g.237994807T>A" "" "" "" "RYR2(NM_001035.2):c.14757-7T>A (p.(=)), RYR2(NM_001035.3):c.14757-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831507T>A" "" "benign" "" "0000506560" "0" "30" "1" "237994807" "237994807" "subst" "0.000215428" "01943" "RYR2_001103" "g.237994807T>A" "" "" "" "RYR2(NM_001035.2):c.14757-7T>A (p.(=)), RYR2(NM_001035.3):c.14757-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831507T>A" "" "likely benign" "" "0000506561" "0" "30" "1" "237994807" "237994807" "subst" "0.000215428" "02325" "RYR2_001103" "g.237994807T>A" "" "" "" "RYR2(NM_001035.2):c.14757-7T>A (p.(=)), RYR2(NM_001035.3):c.14757-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831507T>A" "" "likely benign" "" "0000506562" "0" "30" "1" "237994807" "237994807" "subst" "0.000215428" "02326" "RYR2_001103" "g.237994807T>A" "" "" "" "RYR2(NM_001035.2):c.14757-7T>A (p.(=)), RYR2(NM_001035.3):c.14757-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831507T>A" "" "likely benign" "" "0000506563" "0" "30" "1" "237994807" "237994808" "delins" "0" "02327" "RYR2_001104" "g.237994807_237994808delinsAT" "" "" "" "RYR2(NM_001035.2):c.14757-7_14757-6delTCinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831507_237831508delinsAT" "" "likely benign" "" "0000506564" "0" "10" "1" "237994808" "237994808" "subst" "0.00021966" "02330" "RYR2_001105" "g.237994808C>T" "" "" "" "RYR2(NM_001035.2):c.14757-6C>T (p.(=)), RYR2(NM_001035.3):c.14757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831508C>T" "" "benign" "" "0000506565" "0" "30" "1" "237994808" "237994808" "subst" "0.00021966" "01943" "RYR2_001105" "g.237994808C>T" "" "" "" "RYR2(NM_001035.2):c.14757-6C>T (p.(=)), RYR2(NM_001035.3):c.14757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831508C>T" "" "likely benign" "" "0000506566" "0" "30" "1" "237994808" "237994808" "subst" "0.00021966" "02325" "RYR2_001105" "g.237994808C>T" "" "" "" "RYR2(NM_001035.2):c.14757-6C>T (p.(=)), RYR2(NM_001035.3):c.14757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831508C>T" "" "likely benign" "" "0000506567" "0" "30" "1" "237994808" "237994808" "subst" "0.00021966" "02326" "RYR2_001105" "g.237994808C>T" "" "" "" "RYR2(NM_001035.2):c.14757-6C>T (p.(=)), RYR2(NM_001035.3):c.14757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237831508C>T" "" "likely benign" "" "0000506568" "0" "10" "1" "237995832" "237995832" "subst" "0.00401194" "02327" "RYR2_001107" "g.237995832C>T" "" "" "" "RYR2(NM_001035.2):c.14809-20C>T, RYR2(NM_001035.3):c.14809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832532C>T" "" "benign" "" "0000594729" "0" "70" "1" "237804241" "237804241" "subst" "0" "01164" "RYR2_001258" "g.237804241C>T" "" "" "" "" "ACMG grading: PP3,PM5,PM1,PM2" "Germline" "" "rs794728754" "0" "" "" "g.237640941C>T" "" "likely pathogenic" "ACMG" "0000604582" "0" "50" "1" "237947242" "237947242" "subst" "0" "01164" "RYR2_001259" "g.237947242C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237783942C>A" "" "VUS" "ACMG" "0000604583" "0" "50" "1" "237811912" "237811912" "subst" "0" "01164" "RYR2_000680" "g.237811912C>T" "" "" "" "" "ACMG grading: PS3,PM2,PP3" "Germline" "" "rs769219555" "0" "" "" "g.237648612C>T" "" "VUS" "ACMG" "0000604584" "0" "50" "1" "237811912" "237811912" "subst" "0" "01164" "RYR2_000680" "g.237811912C>T" "" "" "" "" "ACMG grading: PS3,PM2,PP3; variant reported in Tang 2012. Circ Res 110: 968; Akilzhanova 2014. PlosOne 9: e101059" "Germline" "" "rs769219555" "0" "" "" "g.237648612C>T" "" "VUS" "ACMG" "0000604585" "0" "50" "1" "237586537" "237586537" "subst" "0" "01164" "RYR2_000745" "g.237586537C>T" "" "" "" "" "ACMG grading: PM2,PP3\r\nsecondary finding" "Germline" "" "rs876657995" "0" "" "" "g.237423237C>T" "" "VUS" "ACMG" "0000605477" "0" "50" "1" "237527673" "237527677" "del" "0" "01943" "RYR2_001261" "g.237527673_237527677del" "" "" "" "RYR2(NM_001035.2):c.307_309+2delAAGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237364373_237364377del" "" "VUS" "" "0000605478" "0" "30" "1" "237532846" "237532846" "subst" "0" "02327" "RYR2_001262" "g.237532846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237369546G>A" "" "likely benign" "" "0000605479" "0" "30" "1" "237540615" "237540615" "subst" "0" "02327" "RYR2_000798" "g.237540615A>T" "" "" "" "RYR2(NM_001035.3):c.464-8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237377315A>T" "" "likely benign" "" "0000605480" "0" "30" "1" "237550567" "237550567" "subst" "3.65663E-5" "02327" "RYR2_001263" "g.237550567G>A" "" "" "" "RYR2(NM_001035.3):c.577-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387267G>A" "" "likely benign" "" "0000605481" "0" "30" "1" "237550576" "237550577" "ins" "0" "02327" "RYR2_001264" "g.237550576_237550577insTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387276_237387277insTT" "" "likely benign" "" "0000605482" "0" "50" "1" "237550577" "237550579" "delins" "0" "02327" "RYR2_001265" "g.237550577_237550579delinsTTATG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387277_237387279delinsTTATG" "" "VUS" "" "0000605483" "0" "30" "1" "237550578" "237550578" "subst" "0" "02327" "RYR2_001266" "g.237550578C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387278C>T" "" "likely benign" "" "0000605484" "0" "50" "1" "237550579" "237550579" "subst" "0" "02327" "RYR2_001267" "g.237550579A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387279A>G" "" "VUS" "" "0000605485" "0" "30" "1" "237604721" "237604721" "subst" "0.000224743" "02327" "RYR2_001127" "g.237604721C>T" "" "" "" "RYR2(NM_001035.2):c.1108C>T (p.L370=), RYR2(NM_001035.3):c.1108C>T (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441421C>T" "" "likely benign" "" "0000605486" "0" "30" "1" "237604723" "237604723" "subst" "0.000208338" "02327" "RYR2_000816" "g.237604723A>G" "" "" "" "RYR2(NM_001035.3):c.1110A>G (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441423A>G" "" "likely benign" "" "0000605487" "0" "30" "1" "237608733" "237608733" "subst" "0" "01943" "RYR2_001268" "g.237608733T>C" "" "" "" "RYR2(NM_001035.2):c.1203T>C (p.D401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237445433T>C" "" "likely benign" "" "0000605488" "0" "30" "1" "237617878" "237617878" "subst" "0.000147969" "02326" "RYR2_001134" "g.237617878C>T" "" "" "" "RYR2(NM_001035.2):c.1476+4C>T, RYR2(NM_001035.3):c.1476+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454578C>T" "" "likely benign" "" "0000605489" "0" "10" "1" "237619889" "237619889" "dup" "0" "02327" "RYR2_000832" "g.237619889dup" "" "" "" "RYR2(NM_001035.3):c.1477-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237456589dup" "" "benign" "" "0000605490" "0" "50" "1" "237659899" "237659899" "subst" "0" "01943" "RYR2_000844" "g.237659899C>A" "" "" "" "RYR2(NM_001035.2):c.2050C>A (p.P684T), RYR2(NM_001035.3):c.2050C>A (p.P684T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237496599C>A" "" "VUS" "" "0000605491" "0" "10" "1" "237664004" "237664004" "subst" "0.00964533" "02327" "RYR2_000847" "g.237664004C>G" "" "" "" "RYR2(NM_001035.2):c.2204-7C>G (p.(=)), RYR2(NM_001035.3):c.2204-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237500704C>G" "" "benign" "" "0000605492" "0" "70" "1" "237664113" "237664113" "subst" "8.12328E-6" "02327" "RYR2_001270" "g.237664113G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237500813G>A" "" "likely pathogenic" "" "0000605493" "0" "10" "1" "237666583" "237666583" "subst" "0.00379094" "02327" "RYR2_000851" "g.237666583C>T" "" "" "" "RYR2(NM_001035.2):c.2397-6C>T, RYR2(NM_001035.3):c.2397-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503283C>T" "" "benign" "" "0000605494" "0" "50" "1" "237666615" "237666615" "subst" "4.1111E-6" "02327" "RYR2_001271" "g.237666615A>G" "" "" "" "RYR2(NM_001035.3):c.2423A>G (p.H808R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237503315A>G" "" "VUS" "" "0000605495" "0" "30" "1" "237675041" "237675041" "subst" "0" "02327" "RYR2_000861" "g.237675041G>A" "" "" "" "RYR2(NM_001035.2):c.2772G>A (p.L924=), RYR2(NM_001035.3):c.2772G>A (p.L924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237511741G>A" "" "likely benign" "" "0000605496" "0" "30" "1" "237711746" "237711746" "subst" "8.14034E-6" "02327" "RYR2_001272" "g.237711746T>C" "" "" "" "RYR2(NM_001035.3):c.2922T>C (p.S974=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548446T>C" "" "likely benign" "" "0000605497" "0" "30" "1" "237711848" "237711848" "subst" "0.000170612" "02327" "RYR2_000864" "g.237711848G>A" "" "" "" "RYR2(NM_001035.3):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548548G>A" "" "likely benign" "" "0000605498" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "02327" "RYR2_000869" "g.237713929G>A" "" "" "" "RYR2(NM_001035.2):c.3152G>A (p.R1051H, p.(Arg1051His)), RYR2(NM_001035.3):c.3152G>A (p.R1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237550629G>A" "" "VUS" "" "0000605499" "0" "30" "1" "237729903" "237729903" "subst" "0.000142297" "02327" "RYR2_001152" "g.237729903G>A" "" "" "" "RYR2(NM_001035.2):c.3251G>A (p.R1084K), RYR2(NM_001035.3):c.3251G>A (p.R1084K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566603G>A" "" "likely benign" "" "0000605501" "0" "10" "1" "237730059" "237730059" "subst" "0.00685678" "02327" "RYR2_000214" "g.237730059C>T" "" "" "" "RYR2(NM_001035.2):c.3407C>T (p.A1136V, p.(Ala1136Val)), RYR2(NM_001035.3):c.3407C>T (p.A1136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237566759C>T" "" "benign" "" "0000605502" "0" "50" "1" "237753955" "237753955" "subst" "1.07006E-5" "02327" "RYR2_001274" "g.237753955G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590655G>A" "" "VUS" "" "0000605503" "0" "50" "1" "237753959" "237753959" "subst" "9.96592E-6" "02327" "RYR2_001275" "g.237753959C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590659C>T" "" "VUS" "" "0000605504" "0" "10" "1" "237755074" "237755074" "subst" "0" "02327" "RYR2_001276" "g.237755074C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237591774C>A" "" "benign" "" "0000605505" "0" "50" "1" "237758806" "237758806" "subst" "0.000226788" "01804" "RYR2_000887" "g.237758806G>A" "" "" "" "RYR2(NM_001035.2):c.4445G>A (p.R1482H, p.(Arg1482His)), RYR2(NM_001035.3):c.4445G>A (p.R1482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595506G>A" "" "VUS" "" "0000605506" "0" "30" "1" "237758899" "237758899" "subst" "0" "02327" "RYR2_001163" "g.237758899C>T" "" "" "" "RYR2(NM_001035.3):c.4538C>T (p.A1513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595599C>T" "" "likely benign" "" "0000605507" "0" "50" "1" "237758932" "237758932" "subst" "0" "01943" "RYR2_001277" "g.237758932G>A" "" "" "" "RYR2(NM_001035.2):c.4571G>A (p.G1524D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237595632G>A" "" "VUS" "" "0000605508" "0" "10" "1" "237777320" "237777320" "subst" "0.000457464" "02327" "RYR2_001278" "g.237777320A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614020A>G" "" "benign" "" "0000605509" "0" "30" "1" "237777609" "237777609" "subst" "4.06693E-6" "02326" "RYR2_001279" "g.237777609C>A" "" "" "" "RYR2(NM_001035.3):c.5181C>A (p.V1727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614309C>A" "" "likely benign" "" "0000605510" "0" "50" "1" "237777758" "237777758" "subst" "0" "02327" "RYR2_001280" "g.237777758A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614458A>G" "" "VUS" "" "0000605511" "0" "30" "1" "237777915" "237777915" "subst" "2.44447E-5" "02327" "RYR2_001281" "g.237777915G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614615G>T" "" "likely benign" "" "0000605512" "0" "30" "1" "237778047" "237778047" "subst" "0.000330726" "02327" "RYR2_000909" "g.237778047A>G" "" "" "" "RYR2(NM_001035.2):c.5619A>G (p.A1873=), RYR2(NM_001035.3):c.5619A>G (p.A1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614747A>G" "" "likely benign" "" "0000605513" "0" "10" "1" "237778082" "237778082" "subst" "0.0155991" "02327" "RYR2_000298" "g.237778082G>A" "" "" "" "RYR2(NM_001035.2):c.5654G>A (p.G1885E, p.(Gly1885Glu)), RYR2(NM_001035.3):c.5654G>A (p.G1885E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614782G>A" "" "benign" "" "0000605514" "0" "30" "1" "237780626" "237780626" "subst" "8.56458E-5" "02327" "RYR2_001283" "g.237780626G>A" "" "" "" "RYR2(NM_001035.3):c.5756G>A (p.R1919Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237617326G>A" "" "likely benign" "" "0000605515" "0" "50" "1" "237787068" "237787068" "subst" "4.09766E-6" "01943" "RYR2_001284" "g.237787068A>C" "" "" "" "RYR2(NM_001035.2):c.5920A>C (p.N1974H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237623768A>C" "" "VUS" "" "0000605516" "0" "50" "1" "237791170" "237791170" "subst" "1.22153E-5" "02327" "RYR2_001285" "g.237791170A>G" "" "" "" "RYR2(NM_001035.2):c.6230A>G (p.(Asp2077Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237627870A>G" "" "VUS" "" "0000605517" "0" "10" "1" "237794708" "237794708" "subst" "0.00264809" "02327" "RYR2_000919" "g.237794708C>T" "" "" "" "RYR2(NM_001035.2):c.6441-19C>T, RYR2(NM_001035.3):c.6441-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237631408C>T" "" "benign" "" "0000605518" "0" "30" "1" "237801640" "237801641" "dup" "0" "02327" "RYR2_001287" "g.237801640_237801641dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638340_237638341dup" "" "likely benign" "" "0000605519" "0" "50" "1" "237801742" "237801742" "subst" "8.12348E-6" "02327" "RYR2_001288" "g.237801742T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237638442T>C" "" "VUS" "" "0000605520" "0" "30" "1" "237802367" "237802367" "subst" "0" "02327" "RYR2_001289" "g.237802367G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237639067G>A" "" "likely benign" "" "0000605521" "0" "10" "1" "237806719" "237806719" "subst" "7.31166E-5" "02330" "RYR2_001290" "g.237806719C>T" "" "" "" "RYR2(NM_001035.3):c.7314C>T (p.I2438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237643419C>T" "" "benign" "" "0000605522" "0" "10" "1" "237811766" "237811766" "subst" "0.00401341" "02327" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237648466C>T" "" "benign" "" "0000605523" "0" "50" "1" "237811891" "237811891" "subst" "0" "02327" "RYR2_001291" "g.237811891G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237648591G>A" "" "VUS" "" "0000605524" "0" "50" "1" "237814748" "237814750" "del" "0" "02327" "RYR2_001293" "g.237814748_237814750del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237651448_237651450del" "" "VUS" "" "0000605525" "0" "50" "1" "237814761" "237814761" "subst" "0" "02327" "RYR2_001294" "g.237814761A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237651461A>G" "" "VUS" "" "0000605526" "0" "30" "1" "237819103" "237819103" "subst" "0" "02327" "RYR2_001295" "g.237819103G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237655803G>T" "" "likely benign" "" "0000605527" "0" "50" "1" "237821259" "237821259" "subst" "0.000138143" "01943" "RYR2_000948" "g.237821259G>T" "" "" "" "RYR2(NM_001035.2):c.8145G>T (p.E2715D), RYR2(NM_001035.3):c.8145G>T (p.E2715D, p.(Glu2715Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237657959G>T" "" "VUS" "" "0000605528" "0" "50" "1" "237824177" "237824177" "subst" "0" "02327" "RYR2_000951" "g.237824177T>C" "" "" "" "RYR2(NM_001035.3):c.8366T>C (p.I2789T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237660877T>C" "" "VUS" "" "0000605529" "0" "10" "1" "237829805" "237829805" "dup" "0" "02327" "RYR2_001110" "g.237829805dup" "" "" "" "RYR2(NM_001035.3):c.8437-6delAinsGA, RYR2(NM_001035.3):c.8437-7dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666505dup" "" "benign" "" "0000605530" "0" "30" "1" "237862282" "237862282" "subst" "8.2808E-5" "02327" "RYR2_001297" "g.237862282A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237698982A>G" "" "likely benign" "" "0000605531" "0" "50" "1" "237863590" "237863590" "subst" "0.000114525" "02325" "RYR2_000971" "g.237863590G>A" "" "" "" "RYR2(NM_001035.3):c.9190G>A (p.A3064T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700290G>A" "" "VUS" "" "0000605532" "0" "30" "1" "237863615" "237863615" "subst" "0" "02327" "RYR2_001299" "g.237863615T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700315T>A" "" "likely benign" "" "0000605533" "0" "30" "1" "237863650" "237863650" "subst" "0" "02327" "RYR2_001300" "g.237863650C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700350C>A" "" "likely benign" "" "0000605534" "0" "30" "1" "237868510" "237868510" "subst" "0.000396051" "01804" "RYR2_001212" "g.237868510T>C" "" "" "" "RYR2(NM_001035.2):c.9450-3T>C (p.?), RYR2(NM_001035.3):c.9450-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237705210T>C" "" "likely benign" "" "0000605535" "0" "30" "1" "237868521" "237868521" "subst" "0" "02327" "RYR2_000975" "g.237868521C>T" "" "" "" "RYR2(NM_001035.3):c.9458C>T (p.S3153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237705221C>T" "" "likely benign" "" "0000605536" "0" "30" "1" "237868623" "237868623" "subst" "0.000253936" "02327" "RYR2_001302" "g.237868623A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237705323A>G" "" "likely benign" "" "0000605537" "0" "50" "1" "237872244" "237872244" "subst" "0" "02325" "RYR2_001303" "g.237872244G>A" "" "" "" "RYR2(NM_001035.3):c.9988G>A (p.A3330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237708944G>A" "" "VUS" "" "0000605538" "0" "30" "1" "237872858" "237872858" "subst" "8.41439E-5" "02327" "RYR2_000994" "g.237872858G>A" "" "" "" "RYR2(NM_001035.3):c.10221G>A (p.S3407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237709558G>A" "" "likely benign" "" "0000605539" "0" "10" "1" "237875068" "237875068" "subst" "0.00301169" "02327" "RYR2_000996" "g.237875068C>T" "" "" "" "RYR2(NM_001035.2):c.10254C>T (p.N3418=), RYR2(NM_001035.3):c.10254C>T (p.N3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237711768C>T" "" "benign" "" "0000605540" "0" "30" "1" "237881837" "237881837" "subst" "0.00017994" "02326" "RYR2_001001" "g.237881837T>C" "" "" "" "RYR2(NM_001035.3):c.10554+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237718537T>C" "" "likely benign" "" "0000605541" "0" "50" "1" "237886513" "237886513" "subst" "5.28795E-5" "02327" "RYR2_001304" "g.237886513C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237723213C>T" "" "VUS" "" "0000605542" "0" "50" "1" "237893620" "237893622" "del" "0" "02327" "RYR2_001305" "g.237893620_237893622del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237730320_237730322del" "" "VUS" "" "0000605543" "0" "10" "1" "237895351" "237895351" "subst" "0.000467282" "02327" "RYR2_001010" "g.237895351T>G" "" "" "" "RYR2(NM_001035.2):c.10941T>G (p.P3647=), RYR2(NM_001035.3):c.10941T>G (p.P3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237732051T>G" "" "benign" "" "0000605544" "0" "30" "1" "237934126" "237934126" "subst" "8.19651E-5" "02327" "RYR2_001306" "g.237934126C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237770826C>T" "" "likely benign" "" "0000605545" "0" "10" "1" "237946964" "237946964" "subst" "0.382176" "02327" "RYR2_001040" "g.237946964T>C" "" "" "" "RYR2(NM_001035.3):c.11963-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783664T>C" "" "benign" "" "0000605546" "0" "10" "1" "237947000" "237947000" "subst" "0.0116749" "02327" "RYR2_001042" "g.237947000C>T" "" "" "" "RYR2(NM_001035.2):c.11988C>T (p.G3996=), RYR2(NM_001035.3):c.11988C>T (p.G3996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783700C>T" "" "benign" "" "0000605547" "0" "70" "1" "237947025" "237947025" "subst" "0" "02327" "RYR2_001307" "g.237947025G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783725G>A" "" "likely pathogenic" "" "0000605548" "0" "30" "1" "237947165" "237947165" "subst" "1.22351E-5" "01943" "RYR2_001308" "g.237947165G>T" "" "" "" "RYR2(NM_001035.2):c.12153G>T (p.A4051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783865G>T" "" "likely benign" "" "0000605549" "0" "30" "1" "237947717" "237947717" "subst" "0.000371304" "01943" "RYR2_001055" "g.237947717C>T" "" "" "" "RYR2(NM_001035.2):c.12705C>T (p.F4235=), RYR2(NM_001035.3):c.12705C>T (p.F4235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784417C>T" "" "likely benign" "" "0000605550" "0" "30" "1" "237948245" "237948245" "subst" "0" "01943" "RYR2_001309" "g.237948245C>T" "" "" "" "RYR2(NM_001035.2):c.13233C>T (p.P4411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237784945C>T" "" "likely benign" "" "0000605552" "0" "70" "1" "237954780" "237954780" "subst" "0" "02325" "RYR2_001066" "g.237954780G>A" "" "" "" "RYR2(NM_001035.3):c.13528G>A (p.A4510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237791480G>A" "" "likely pathogenic" "" "0000605553" "0" "10" "1" "237957146" "237957146" "subst" "0.711204" "02327" "RYR2_001311" "g.237957146G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237793846G>A" "" "benign" "" "0000605554" "0" "10" "1" "237957161" "237957161" "subst" "0.737568" "02327" "RYR2_001074" "g.237957161A>G" "" "" "" "RYR2(NM_001035.3):c.13783-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237793861A>G" "" "benign" "" "0000605555" "0" "50" "1" "237957175" "237957175" "subst" "0" "02325" "RYR2_001312" "g.237957175G>T" "" "" "" "RYR2(NM_001035.3):c.13791G>T (p.L4597F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237793875G>T" "" "VUS" "" "0000605556" "0" "30" "1" "237957193" "237957193" "subst" "0" "02327" "RYR2_001313" "g.237957193A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237793893A>G" "" "likely benign" "" "0000605557" "0" "70" "1" "237957300" "237957300" "subst" "0" "02327" "RYR2_001314" "g.237957300G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237794000G>T" "" "likely pathogenic" "" "0000605558" "0" "10" "1" "237957309" "237957309" "subst" "0.731941" "02327" "RYR2_001075" "g.237957309A>C" "" "" "" "RYR2(NM_001035.3):c.13913+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237794009A>C" "" "benign" "" "0000605559" "0" "70" "1" "237961338" "237961338" "subst" "0" "02330" "RYR2_001315" "g.237961338T>C" "" "" "" "RYR2(NM_001035.3):c.13958T>C (p.V4653A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798038T>C" "" "likely pathogenic" "" "0000605560" "0" "70" "1" "237961349" "237961362" "dup" "0" "01804" "RYR2_001251" "g.237961349_237961362dup" "" "" "" "RYR2(NM_001035.2):c.13967_13968insATATGGAGAGTTCT (p.(Gly4662MetfsTer42)), RYR2(NM_001035.3):c.13969_13982dupTATGGAGAGTTCTA (p.G4662Mfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798049_237798062dup" "" "likely pathogenic" "" "0000605561" "0" "30" "1" "237961356" "237961356" "subst" "1.2486E-5" "02327" "RYR2_001316" "g.237961356A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237798056A>G" "" "likely benign" "" "0000605562" "0" "30" "1" "237965216" "237965216" "subst" "1.22635E-5" "02327" "RYR2_001317" "g.237965216C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237801916C>T" "" "likely benign" "" "0000605563" "0" "30" "1" "237969422" "237969422" "subst" "2.85934E-5" "02327" "RYR2_001254" "g.237969422G>A" "" "" "" "RYR2(NM_001035.3):c.14152-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237806122G>A" "" "likely benign" "" "0000605564" "0" "90" "1" "237969458" "237969458" "subst" "0" "02327" "RYR2_001318" "g.237969458T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237806158T>C" "" "pathogenic" "" "0000605565" "0" "90" "1" "237993900" "237993900" "subst" "0" "02327" "RYR2_001319" "g.237993900C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237830600C>T" "" "pathogenic" "" "0000605566" "0" "10" "1" "237995837" "237995837" "subst" "0.00545634" "02327" "RYR2_001108" "g.237995837C>G" "" "" "" "RYR2(NM_001035.2):c.14809-15C>G, RYR2(NM_001035.3):c.14809-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832537C>G" "" "benign" "" "0000605567" "0" "90" "1" "237995919" "237995919" "subst" "0" "02330" "RYR2_000742" "g.237995919G>A" "" "" "" "RYR2(NM_001035.3):c.14876G>A (p.R4959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832619G>A" "" "pathogenic" "" "0000605568" "0" "90" "1" "237995919" "237995919" "subst" "0" "02327" "RYR2_000742" "g.237995919G>A" "" "" "" "RYR2(NM_001035.3):c.14876G>A (p.R4959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832619G>A" "" "pathogenic" "" "0000605569" "0" "90" "1" "237995919" "237995919" "subst" "0" "02325" "RYR2_000742" "g.237995919G>A" "" "" "" "RYR2(NM_001035.3):c.14876G>A (p.R4959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832619G>A" "" "pathogenic" "" "0000605570" "0" "90" "1" "237995919" "237995919" "subst" "0" "02326" "RYR2_000742" "g.237995919G>A" "" "" "" "RYR2(NM_001035.3):c.14876G>A (p.R4959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832619G>A" "" "pathogenic" "" "0000620572" "0" "50" "1" "237433889" "237433889" "subst" "0" "02326" "RYR2_001260" "g.237433889T>G" "" "" "" "RYR2(NM_001035.3):c.141T>G (p.C47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237270589T>G" "" "VUS" "" "0000620573" "0" "30" "1" "237604756" "237604756" "subst" "0.000239044" "01943" "RYR2_000818" "g.237604756C>T" "" "" "" "RYR2(NM_001035.2):c.1143C>T (p.S381=), RYR2(NM_001035.3):c.1143C>T (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237441456C>T" "" "likely benign" "" "0000620574" "0" "30" "1" "237664108" "237664108" "subst" "3.65539E-5" "02325" "RYR2_001269" "g.237664108G>A" "" "" "" "RYR2(NM_001035.3):c.2301G>A (p.S767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237500808G>A" "" "likely benign" "" "0000620575" "0" "10" "1" "237711746" "237711746" "subst" "8.14034E-6" "02330" "RYR2_001272" "g.237711746T>C" "" "" "" "RYR2(NM_001035.3):c.2922T>C (p.S974=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237548446T>C" "" "benign" "" "0000620576" "0" "50" "1" "237780625" "237780625" "subst" "4.08123E-6" "02325" "RYR2_001282" "g.237780625C>T" "" "" "" "RYR2(NM_001035.3):c.5755C>T (p.(Arg1919Trp), p.R1919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237617325C>T" "" "VUS" "" "0000620577" "0" "30" "1" "237798186" "237798186" "subst" "0" "02325" "RYR2_001286" "g.237798186T>C" "" "" "" "RYR2(NM_001035.3):c.6689-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237634886T>C" "" "likely benign" "" "0000620578" "0" "50" "1" "237813340" "237813340" "subst" "0" "02330" "RYR2_001292" "g.237813340G>A" "" "" "" "RYR2(NM_001035.3):c.7676G>A (p.C2559Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237650040G>A" "" "VUS" "" "0000620579" "0" "50" "1" "237829845" "237829845" "subst" "2.45837E-5" "01943" "RYR2_001296" "g.237829845C>T" "" "" "" "RYR2(NM_001035.2):c.8470C>T (p.R2824W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237666545C>T" "" "VUS" "" "0000620580" "0" "50" "1" "237862291" "237862291" "subst" "1.65035E-5" "01943" "RYR2_001298" "g.237862291T>G" "" "" "" "RYR2(NM_001035.2):c.9094T>G (p.C3032G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237698991T>G" "" "VUS" "" "0000620581" "0" "50" "1" "237863748" "237863748" "subst" "0" "01943" "RYR2_001301" "g.237863748G>T" "" "" "" "RYR2(NM_001035.2):c.9348G>T (p.Q3116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237700448G>T" "" "VUS" "" "0000620582" "0" "30" "1" "237870340" "237870340" "subst" "9.75538E-5" "01943" "RYR2_000982" "g.237870340C>T" "" "" "" "RYR2(NM_001035.2):c.9672C>T (p.S3224=), RYR2(NM_001035.3):c.9672C>T (p.S3224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237707040C>T" "" "likely benign" "" "0000620583" "0" "30" "1" "237947219" "237947219" "subst" "1.22876E-5" "01943" "RYR2_001048" "g.237947219T>C" "" "" "" "RYR2(NM_001035.2):c.12207T>C (p.C4069=), RYR2(NM_001035.3):c.12207T>C (p.C4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783919T>C" "" "likely benign" "" "0000620584" "0" "10" "1" "237951384" "237951384" "subst" "0" "02330" "RYR2_001310" "g.237951384G>A" "" "" "" "RYR2(NM_001035.3):c.13425G>A (p.V4475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237788084G>A" "" "benign" "" "0000620585" "0" "10" "1" "237955407" "237955407" "subst" "0.000857592" "02326" "RYR2_001068" "g.237955407C>T" "" "" "" "RYR2(NM_001035.2):c.13566C>T (p.V4522=), RYR2(NM_001035.3):c.13566C>T (p.V4522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792107C>T" "" "benign" "" "0000620586" "0" "50" "1" "237995909" "237995909" "subst" "0" "02325" "RYR2_001320" "g.237995909G>A" "" "" "" "RYR2(NM_001035.3):c.14866G>A (p.D4956N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237832609G>A" "" "VUS" "" "0000626474" "0" "50" "1" "237617794" "237617794" "subst" "9.3636E-5" "01164" "RYR2_000109" "g.237617794C>G" "" "" "" "" "" "Germline" "" "rs376612295" "0" "" "" "g.237454494C>G" "" "VUS" "ACMG" "0000626475" "0" "50" "1" "237586537" "237586537" "subst" "0" "01164" "RYR2_000745" "g.237586537C>T" "" "" "" "" "ACMG: PM2,PP3" "Germline" "" "rs876657995" "0" "" "" "g.237423237C>T" "" "VUS" "ACMG" "0000626476" "0" "50" "1" "237791224" "237791224" "subst" "3.65607E-5" "01164" "RYR2_001323" "g.237791224T>C" "" "" "" "" "ACMG: BS1,PP3" "Germline" "" "rs142498105" "0" "" "" "g.237627924T>C" "" "VUS" "ACMG" "0000626477" "0" "50" "1" "237774071" "237774071" "subst" "0.00011585" "01164" "RYR2_001322" "g.237774071C>G" "" "" "" "" "" "Germline" "" "rs778783933" "0" "" "" "g.237610771C>G" "" "VUS" "ACMG" "0000626478" "0" "50" "1" "237831222" "237831222" "subst" "0" "01164" "RYR2_001324" "g.237831222T>C" "" "" "" "" "ACMG: PM2,PP3" "Germline" "" "" "0" "" "" "g.237667922T>C" "" "VUS" "ACMG" "0000626482" "0" "30" "1" "237730032" "237730032" "subst" "0.00107657" "01164" "RYR2_000660" "g.237730032A>G" "" "" "" "" "" "Germline" "" "rs200525962" "0" "" "" "g.237566732A>G" "" "likely benign" "ACMG" "0000626483" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "01164" "RYR2_000784" "g.237774125C>T" "" "" "" "" "ACMG: PM2,PP3,PP5" "Germline" "" "rs200070226" "0" "" "" "g.237610825C>T" "" "VUS" "ACMG" "0000626484" "0" "50" "1" "237947242" "237947242" "subst" "0" "01164" "RYR2_001259" "g.237947242C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237783942C>A" "" "VUS" "ACMG" "0000626485" "0" "50" "1" "237994807" "237994807" "subst" "0.000215428" "01164" "RYR2_001103" "g.237994807T>A" "" "" "" "" "" "Germline" "" "rs757297613" "0" "" "" "g.237831507T>A" "" "VUS" "ACMG" "0000626486" "0" "50" "1" "237811912" "237811912" "subst" "0" "01164" "RYR2_000680" "g.237811912C>T" "" "" "" "" "ACMG: PS3,PM2,PP3; Tang et al. 2012. Circ Res 110: 968; Akilzhanova et al. 2014. PlosOne 9: e101059" "Germline" "" "rs769219555" "0" "" "" "g.237648612C>T" "" "VUS" "ACMG" "0000626487" "0" "50" "1" "237838062" "237838062" "del" "0" "01164" "RYR2_001325" "g.237838062del" "" "" "" "" "ACMG: PVS1,PM2; RS Schön: ist auf jeden Fall Class4 und damit ein IF; EVE: ja gekreutzt -> in Infofeld" "Germline" "" "" "0" "" "" "g.237674762del" "" "VUS" "ACMG" "0000626488" "0" "50" "1" "237821276" "237821276" "subst" "0.000608931" "01164" "RYR2_000002" "g.237821276T>C" "" "" "" "" "" "Germline" "" "rs201500134" "0" "" "" "g.237657976T>C" "" "VUS" "ACMG" "0000626489" "0" "50" "1" "237838078" "237838079" "ins" "0" "01164" "RYR2_001326" "g.237838078_237838079insAT" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.237674778_237674779insAT" "" "VUS" "ACMG" "0000626490" "0" "50" "1" "237754022" "237754022" "subst" "0" "01164" "RYR2_001321" "g.237754022C>G" "" "" "" "" "ACMG: PM2" "Germline" "" "" "0" "" "" "g.237590722C>G" "" "VUS" "ACMG" "0000626491" "0" "50" "1" "237955486" "237955491" "del" "0" "01164" "RYR2_001328" "g.237955486_237955491del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237792186_237792191del" "" "VUS" "ACMG" "0000626492" "0" "50" "1" "237934151" "237934151" "subst" "0" "01164" "RYR2_001327" "g.237934151C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.237770851C>T" "" "VUS" "ACMG" "0000647629" "1" "70" "1" "237551414" "237551414" "subst" "0" "03575" "RYR2_001329" "g.237551414G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728711}" "Germline" "" "rs794728711" "0" "" "" "g.237388114G>A" "" "likely pathogenic" "" "0000647630" "1" "50" "1" "237608770" "237608770" "subst" "0" "03575" "RYR2_000748" "g.237608770C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs764698152}" "Germline" "" "rs764698152" "0" "" "" "g.237445470C>T" "" "VUS" "" "0000647631" "1" "50" "1" "237713928" "237713928" "subst" "9.72517E-5" "03575" "RYR2_000024" "g.237713928C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs533330664}" "Germline" "" "rs533330664" "0" "" "" "g.237550628C>T" "" "VUS" "" "0000647632" "1" "30" "1" "237755076" "237755076" "subst" "0.0167403" "03575" "RYR2_000886" "g.237755076A>G" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous, no homozygous; {DB:CLININrs56229512}" "Germline" "" "rs56229512" "0" "" "" "g.237591776A>G" "" "likely benign" "" "0000647633" "1" "30" "1" "237778084" "237778084" "subst" "0.0404671" "03575" "RYR2_000300" "g.237778084G>A" "239/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "239 heterozygous; {DB:CLININrs3766871}" "Germline" "" "rs3766871" "0" "" "" "g.237614784G>A" "" "likely benign" "" "0000647634" "1" "70" "1" "237796920" "237796920" "subst" "0" "03575" "RYR2_001330" "g.237796920C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728743}" "Germline" "" "rs794728743" "0" "" "" "g.237633620C>T" "" "likely pathogenic" "" "0000647635" "1" "70" "1" "237811786" "237811786" "subst" "0" "03575" "RYR2_001331" "g.237811786C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs794728757}" "Germline" "" "rs794728757" "0" "" "" "g.237648486C>T" "" "likely pathogenic" "" "0000647636" "1" "10" "1" "237934206" "237934206" "subst" "0.0177073" "03575" "RYR2_001027" "g.237934206C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs113408406}" "Germline" "" "rs113408406" "0" "" "" "g.237770906C>T" "" "benign" "" "0000647637" "1" "70" "1" "237947295" "237947295" "subst" "8.16273E-6" "03575" "RYR2_001332" "g.237947295G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs753850982}" "Germline" "" "rs753850982" "0" "" "" "g.237783995G>A" "" "likely pathogenic" "" "0000647639" "1" "70" "1" "237957206" "237957206" "subst" "0" "03575" "RYR2_001333" "g.237957206C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728799}" "Germline" "" "rs794728799" "0" "" "" "g.237793906C>T" "" "likely pathogenic" "" "0000647640" "1" "90" "1" "237993878" "237993878" "subst" "0" "03575" "RYR2_001334" "g.237993878C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728808}" "Germline" "" "rs794728808" "0" "" "" "g.237830578C>T" "" "pathogenic" "" "0000647641" "1" "70" "1" "237994861" "237994861" "subst" "0" "03575" "RYR2_001335" "g.237994861G>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728809}" "Germline" "" "rs794728809" "0" "" "" "g.237831561G>C" "" "likely pathogenic" "" "0000647642" "1" "50" "1" "237996077" "237996077" "subst" "0" "03575" "RYR2_001336" "g.237996077G>A" "24/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous; {DB:CLININrs12725752}" "Germline" "" "rs12725752" "0" "" "" "g.237832777G>A" "" "VUS" "" "0000652969" "1" "70" "1" "237540665" "237540665" "subst" "0" "03575" "RYR2_000776" "g.237540665G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516539}" "Germline" "" "rs397516539" "0" "" "" "g.237377365G>A" "" "likely pathogenic" "" "0000653956" "0" "30" "1" "237550567" "237550567" "subst" "3.65663E-5" "02330" "RYR2_001263" "g.237550567G>A" "" "" "" "RYR2(NM_001035.3):c.577-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237387267G>A" "" "likely benign" "" "0000653957" "0" "30" "1" "237580431" "237580431" "subst" "6.10441E-5" "02326" "RYR2_001337" "g.237580431G>C" "" "" "" "RYR2(NM_001035.3):c.848+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237417131G>C" "" "likely benign" "" "0000653958" "0" "30" "1" "237586554" "237586554" "subst" "0" "02326" "RYR2_001338" "g.237586554A>G" "" "" "" "RYR2(NM_001035.3):c.1005+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237423254A>G" "" "likely benign" "" "0000653959" "0" "30" "1" "237617793" "237617793" "subst" "4.88564E-5" "02326" "RYR2_001132" "g.237617793C>A" "" "" "" "RYR2(NM_001035.2):c.1395C>A (p.P465=), RYR2(NM_001035.3):c.1395C>A (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237454493C>A" "" "likely benign" "" "0000653960" "0" "50" "1" "237675001" "237675001" "subst" "0" "02326" "RYR2_001339" "g.237675001A>G" "" "" "" "RYR2(NM_001035.3):c.2732A>G (p.N911S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237511701A>G" "" "VUS" "" "0000653961" "0" "50" "1" "237754015" "237754015" "subst" "7.83389E-5" "01943" "RYR2_001157" "g.237754015A>G" "" "" "" "RYR2(NM_001035.2):c.3883A>G (p.S1295G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237590715A>G" "" "VUS" "" "0000653962" "0" "30" "1" "237774070" "237774070" "subst" "9.02434E-5" "02326" "RYR2_001165" "g.237774070G>A" "" "" "" "RYR2(NM_001035.2):c.4692G>A (p.M1564I), RYR2(NM_001035.3):c.4692G>A (p.M1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610770G>A" "" "likely benign" "" "0000653963" "0" "30" "1" "237774133" "237774133" "subst" "1.63881E-5" "01943" "RYR2_001340" "g.237774133C>T" "" "" "" "RYR2(NM_001035.2):c.4755C>T (p.R1585=), RYR2(NM_001035.3):c.4755C>T (p.R1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237610833C>T" "" "likely benign" "" "0000653964" "0" "30" "1" "237778016" "237778016" "subst" "4.07681E-5" "01943" "RYR2_001341" "g.237778016C>T" "" "" "" "RYR2(NM_001035.2):c.5588C>T (p.T1863M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237614716C>T" "" "likely benign" "" "0000653965" "0" "10" "1" "237798226" "237798226" "subst" "5.01542E-5" "02330" "RYR2_001342" "g.237798226G>A" "" "" "" "RYR2(NM_001035.3):c.6726G>A (p.V2242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237634926G>A" "" "benign" "" "0000653966" "0" "30" "1" "237798308" "237798308" "subst" "0" "02326" "RYR2_001343" "g.237798308G>T" "" "" "" "RYR2(NM_001035.3):c.6792+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237635008G>T" "" "likely benign" "" "0000653967" "0" "50" "1" "237802338" "237802338" "subst" "8.12711E-6" "02325" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237639038A>G" "" "VUS" "" "0000653968" "0" "50" "1" "237811774" "237811774" "subst" "0" "01943" "RYR2_001344" "g.237811774C>T" "" "" "" "RYR2(NM_001035.2):c.7373C>T (p.A2458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237648474C>T" "" "VUS" "" "0000653969" "0" "30" "1" "237868510" "237868510" "subst" "0.000396051" "02330" "RYR2_001212" "g.237868510T>C" "" "" "" "RYR2(NM_001035.2):c.9450-3T>C (p.?), RYR2(NM_001035.3):c.9450-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237705210T>C" "" "likely benign" "" "0000653970" "0" "50" "1" "237947256" "237947256" "subst" "1.63592E-5" "02326" "RYR2_001345" "g.237947256G>A" "" "" "" "RYR2(NM_001035.3):c.12244G>A (p.E4082K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237783956G>A" "" "VUS" "" "0000653971" "0" "30" "1" "237955506" "237955506" "subst" "1.62825E-5" "01943" "RYR2_001346" "g.237955506C>T" "" "" "" "RYR2(NM_001035.2):c.13665C>T (p.I4555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237792206C>T" "" "likely benign" "" "0000653972" "0" "30" "1" "237991745" "237991745" "subst" "0" "02325" "RYR2_001099" "g.237991745G>A" "" "" "" "RYR2(NM_001035.2):c.14655G>A (p.E4885=), RYR2(NM_001035.3):c.14655G>A (p.E4885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.237828445G>A" "" "likely benign" "" "0000667295" "0" "70" "1" "237995907" "237995907" "subst" "0" "00006" "RYR2_001347" "g.237995907G>A" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.237832607G>A" "" "pathogenic (dominant)" "" "0000667441" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "01164" "RYR2_000781" "g.237656365C>T" "" "" "" "" "" "Germline" "?" "rs202040519" "0" "" "" "" "" "VUS" "" "0000669007" "3" "30" "1" "237778084" "237778084" "subst" "0.0404671" "03575" "RYR2_000300" "g.237778084G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs3766871}" "Germline" "" "rs3766871" "0" "" "" "g.237614784G>A" "" "likely benign" "" "0000669008" "3" "50" "1" "237996077" "237996077" "subst" "0" "03575" "RYR2_001336" "g.237996077G>A" "2/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs12725752}" "Germline" "" "rs12725752" "0" "" "" "g.237832777G>A" "" "VUS" "" "0000675733" "0" "30" "1" "237551415" "237551415" "subst" "4.06388E-6" "01943" "RYR2_001348" "g.237551415G>A" "" "" "" "RYR2(NM_001035.2):c.705G>A (p.R235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675734" "0" "90" "1" "237604682" "237604682" "subst" "0" "01943" "RYR2_001126" "g.237604682G>A" "" "" "" "RYR2(NM_001035.2):c.1069G>A (p.G357S), RYR2(NM_001035.3):c.1069G>A (p.G357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675735" "0" "90" "1" "237604682" "237604682" "subst" "0" "02326" "RYR2_001126" "g.237604682G>A" "" "" "" "RYR2(NM_001035.2):c.1069G>A (p.G357S), RYR2(NM_001035.3):c.1069G>A (p.G357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675736" "0" "30" "1" "237604748" "237604748" "subst" "0.000229728" "02325" "RYR2_001128" "g.237604748G>A" "" "" "" "RYR2(NM_001035.2):c.1135G>A (p.V379M), RYR2(NM_001035.3):c.1135G>A (p.V379M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675737" "0" "50" "1" "237608770" "237608770" "subst" "0" "02330" "RYR2_000748" "g.237608770C>T" "" "" "" "RYR2(NM_001035.3):c.1240C>T (p.R414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675738" "0" "30" "1" "237617793" "237617793" "subst" "4.88564E-5" "02327" "RYR2_001132" "g.237617793C>A" "" "" "" "RYR2(NM_001035.2):c.1395C>A (p.P465=), RYR2(NM_001035.3):c.1395C>A (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675739" "0" "30" "1" "237619941" "237619941" "subst" "0" "01943" "RYR2_001349" "g.237619941C>A" "" "" "" "RYR2(NM_001035.2):c.1518C>A (p.H506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675740" "0" "50" "1" "237664086" "237664086" "subst" "4.06177E-6" "02326" "RYR2_001350" "g.237664086A>C" "" "" "" "RYR2(NM_001035.3):c.2279A>C (p.D760A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675741" "0" "10" "1" "237664108" "237664108" "subst" "0.00240443" "02327" "RYR2_000849" "g.237664108G>T" "" "" "" "RYR2(NM_001035.2):c.2301G>T (p.S767=), RYR2(NM_001035.3):c.2301G>T (p.S767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675742" "0" "50" "1" "237666636" "237666636" "subst" "0" "02326" "RYR2_000853" "g.237666636C>T" "" "" "" "RYR2(NM_001035.3):c.2444C>T (p.P815L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675743" "0" "50" "1" "237670025" "237670025" "subst" "9.79872E-5" "02326" "RYR2_001351" "g.237670025C>T" "" "" "" "RYR2(NM_001035.3):c.2629C>T (p.H877Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675744" "0" "30" "1" "237670038" "237670038" "subst" "6.50904E-5" "02326" "RYR2_001352" "g.237670038T>G" "" "" "" "RYR2(NM_001035.3):c.2642T>G (p.I881R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675745" "0" "50" "1" "237729972" "237729972" "subst" "0.000406339" "02326" "RYR2_000203" "g.237729972C>T" "" "" "" "RYR2(NM_001035.3):c.3320C>T (p.T1107M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675746" "0" "30" "1" "237730075" "237730075" "subst" "0" "02325" "RYR2_001353" "g.237730075G>A" "" "" "" "RYR2(NM_001035.3):c.3423G>A (p.K1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675747" "0" "30" "1" "237732528" "237732528" "subst" "6.09583E-5" "01943" "RYR2_001354" "g.237732528C>T" "" "" "" "RYR2(NM_001035.2):c.3507C>T (p.N1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675748" "0" "50" "1" "237732538" "237732538" "subst" "1.21917E-5" "02325" "RYR2_001355" "g.237732538A>G" "" "" "" "RYR2(NM_001035.3):c.3517A>G (p.M1173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675749" "0" "50" "1" "237754022" "237754022" "subst" "1.22975E-5" "02330" "RYR2_001356" "g.237754022C>T" "" "" "" "RYR2(NM_001035.3):c.3890C>T (p.T1297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675750" "0" "30" "1" "237754299" "237754299" "subst" "7.15561E-5" "02326" "RYR2_000885" "g.237754299A>G" "" "" "" "RYR2(NM_001035.3):c.4160+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675751" "0" "10" "1" "237755076" "237755076" "subst" "0.0167403" "02327" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675752" "0" "50" "1" "237758902" "237758902" "subst" "0" "02327" "RYR2_001357" "g.237758902C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675753" "0" "30" "1" "237758963" "237758963" "subst" "2.54539E-5" "02330" "RYR2_001358" "g.237758963C>T" "" "" "" "RYR2(NM_001035.3):c.4596+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675754" "0" "30" "1" "237765380" "237765380" "subst" "0.000264777" "02325" "RYR2_001359" "g.237765380A>G" "" "" "" "RYR2(NM_001035.2):c.4652A>G (p.N1551S), RYR2(NM_001035.3):c.4652A>G (p.N1551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675755" "0" "30" "1" "237774133" "237774133" "subst" "1.63881E-5" "02326" "RYR2_001340" "g.237774133C>T" "" "" "" "RYR2(NM_001035.2):c.4755C>T (p.R1585=), RYR2(NM_001035.3):c.4755C>T (p.R1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675756" "0" "50" "1" "237780692" "237780692" "subst" "3.25359E-5" "02325" "RYR2_001360" "g.237780692G>A" "" "" "" "RYR2(NM_001035.3):c.5822G>A (p.(Arg1941His), p.R1941H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675757" "0" "50" "1" "237817608" "237817608" "subst" "0" "02326" "RYR2_001361" "g.237817608A>G" "" "" "" "RYR2(NM_001035.3):c.7859A>G (p.Y2620C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675758" "0" "70" "1" "237817655" "237817655" "subst" "0" "02327" "RYR2_001362" "g.237817655G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675759" "0" "50" "1" "237829846" "237829846" "subst" "0" "02327" "RYR2_001363" "g.237829846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675760" "0" "50" "1" "237838111" "237838111" "subst" "0" "02326" "RYR2_001364" "g.237838111A>G" "" "" "" "RYR2(NM_001035.3):c.8795A>G (p.Y2932C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675761" "0" "50" "1" "237850741" "237850741" "subst" "0" "02326" "RYR2_001365" "g.237850741T>A" "" "" "" "RYR2(NM_001035.3):c.9018-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675762" "0" "50" "1" "237863659" "237863659" "subst" "0" "02325" "RYR2_001210" "g.237863659C>T" "" "" "" "RYR2(NM_001035.3):c.9259C>T (p.P3087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675763" "0" "50" "1" "237863752" "237863752" "subst" "0" "02330" "RYR2_001366" "g.237863752G>A" "" "" "" "RYR2(NM_001035.3):c.9352G>A (p.G3118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675764" "0" "30" "1" "237870287" "237870287" "subst" "4.47293E-5" "01943" "RYR2_001367" "g.237870287A>G" "" "" "" "RYR2(NM_001035.2):c.9619A>G (p.N3207D), RYR2(NM_001035.3):c.9619A>G (p.N3207D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675765" "0" "30" "1" "237870340" "237870340" "subst" "9.75538E-5" "02327" "RYR2_000982" "g.237870340C>T" "" "" "" "RYR2(NM_001035.2):c.9672C>T (p.S3224=), RYR2(NM_001035.3):c.9672C>T (p.S3224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675766" "0" "30" "1" "237872297" "237872297" "subst" "0" "02326" "RYR2_001368" "g.237872297C>T" "" "" "" "RYR2(NM_001035.3):c.10041C>T (p.D3347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675767" "0" "30" "1" "237893635" "237893635" "subst" "0" "02327" "RYR2_001369" "g.237893635T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675768" "0" "30" "1" "237982477" "237982477" "subst" "0" "01943" "RYR2_001370" "g.237982477T>C" "" "" "" "RYR2(NM_001035.2):c.14575T>C (p.L4859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675769" "0" "30" "1" "237991672" "237991672" "del" "0" "02327" "RYR2_001371" "g.237991672del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688091" "0" "50" "1" "237550653" "237550653" "subst" "0.000158481" "02330" "RYR2_000801" "g.237550653A>G" "" "" "" "RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688092" "0" "30" "1" "237666766" "237666766" "subst" "4.06164E-6" "02326" "RYR2_001372" "g.237666766G>C" "" "" "" "RYR2(NM_001035.3):c.2574G>C (p.T858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688093" "0" "30" "1" "237732533" "237732533" "subst" "4.06369E-6" "01943" "RYR2_001373" "g.237732533A>G" "" "" "" "RYR2(NM_001035.2):c.3512A>G (p.H1171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688094" "0" "50" "1" "237758818" "237758818" "subst" "8.18264E-6" "02326" "RYR2_001374" "g.237758818A>G" "" "" "" "RYR2(NM_001035.3):c.4457A>G (p.Y1486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688095" "0" "10" "1" "237758969" "237758969" "subst" "0.000450679" "02330" "RYR2_000889" "g.237758969G>A" "" "" "" "RYR2(NM_001035.3):c.4596+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688096" "0" "30" "1" "237774112" "237774112" "subst" "0.00089685" "01943" "RYR2_001375" "g.237774112C>T" "" "" "" "RYR2(NM_001035.2):c.4734C>T (p.P1578=), RYR2(NM_001035.3):c.4734C>T (p.P1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688097" "0" "30" "1" "237778047" "237778047" "subst" "0.000330726" "02326" "RYR2_000909" "g.237778047A>G" "" "" "" "RYR2(NM_001035.2):c.5619A>G (p.A1873=), RYR2(NM_001035.3):c.5619A>G (p.A1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688098" "0" "30" "1" "237791333" "237791333" "subst" "1.2211E-5" "02326" "RYR2_001376" "g.237791333T>C" "" "" "" "RYR2(NM_001035.3):c.6393T>C (p.S2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688099" "0" "30" "1" "237813168" "237813168" "subst" "0" "02326" "RYR2_001377" "g.237813168C>A" "" "" "" "RYR2(NM_001035.3):c.7513-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688100" "0" "50" "1" "237821287" "237821287" "subst" "0" "02325" "RYR2_001378" "g.237821287G>A" "" "" "" "RYR2(NM_001035.3):c.8173G>A (p.A2725T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688101" "0" "10" "1" "237824263" "237824263" "subst" "0" "02330" "RYR2_001379" "g.237824263G>C" "" "" "" "RYR2(NM_001035.3):c.8436+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688102" "0" "30" "1" "237837448" "237837448" "subst" "4.06517E-6" "01943" "RYR2_000957" "g.237837448G>A" "" "" "" "RYR2(NM_001035.2):c.8643G>A (p.E2881=), RYR2(NM_001035.3):c.8643G>A (p.E2881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688103" "0" "30" "1" "237936939" "237936939" "subst" "4.4989E-5" "01943" "RYR2_001031" "g.237936939G>A" "" "" "" "RYR2(NM_001035.2):c.11766G>A (p.E3922=), RYR2(NM_001035.3):c.11766G>A (p.E3922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688104" "0" "30" "1" "237957160" "237957160" "subst" "1.2423E-5" "02326" "RYR2_001380" "g.237957160T>C" "" "" "" "RYR2(NM_001035.3):c.13783-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688105" "0" "10" "1" "237969422" "237969422" "subst" "2.85934E-5" "02330" "RYR2_001254" "g.237969422G>A" "" "" "" "RYR2(NM_001035.3):c.14152-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688106" "0" "70" "1" "237969447" "237969447" "subst" "0" "02326" "RYR2_001381" "g.237969447A>C" "" "" "" "RYR2(NM_001035.3):c.14162A>C (p.Y4721S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688107" "0" "50" "1" "237969557" "237969557" "subst" "0" "02325" "RYR2_001382" "g.237969557T>A" "" "" "" "RYR2(NM_001035.3):c.14272T>A (p.S4758T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701667" "0" "50" "1" "237664141" "237664141" "subst" "0" "00006" "RYR2_001383" "g.237664141G>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237500841G>A" "" "VUS" "" "0000701668" "0" "50" "1" "237713929" "237713929" "subst" "9.03959E-5" "00006" "RYR2_000869" "g.237713929G>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237550629G>A" "" "VUS" "" "0000701669" "0" "50" "1" "237732617" "237732617" "subst" "4.08213E-6" "00006" "RYR2_001384" "g.237732617A>G" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237569317A>G" "" "VUS" "" "0000701670" "0" "50" "1" "237777689" "237777689" "subst" "1.22009E-5" "00006" "RYR2_001385" "g.237777689G>C" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237614389G>C" "" "VUS" "" "0000701671" "0" "50" "1" "237824120" "237824120" "subst" "2.6842E-5" "00006" "RYR2_001386" "g.237824120T>C" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237660820T>C" "" "VUS" "" "0000701672" "0" "50" "1" "237954793" "237954793" "subst" "0" "00006" "RYR2_001387" "g.237954793A>G" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.237791493A>G" "" "VUS" "" "0000714880" "0" "50" "1" "237656365" "237656365" "subst" "0.000154791" "01164" "RYR2_000781" "g.237656365C>T" "" "" "" "" "ACMG: PM2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000717317" "0" "50" "1" "237551470" "237551470" "subst" "0" "02326" "RYR2_001388" "g.237551470G>A" "" "" "" "RYR2(NM_001035.3):c.760G>A (p.E254K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717318" "0" "10" "1" "237604607" "237604607" "subst" "0.000179692" "02330" "RYR2_001125" "g.237604607C>T" "" "" "" "RYR2(NM_001035.3):c.1006-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717319" "0" "10" "1" "237604747" "237604747" "subst" "0.000550849" "02330" "RYR2_000817" "g.237604747C>T" "" "" "" "RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717320" "0" "30" "1" "237617717" "237617717" "subst" "1.23283E-5" "02326" "RYR2_001389" "g.237617717C>T" "" "" "" "RYR2(NM_001035.3):c.1319C>T (p.A440V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717321" "0" "50" "1" "237617879" "237617879" "subst" "2.05878E-5" "01943" "RYR2_001135" "g.237617879G>A" "" "" "" "RYR2(NM_001035.2):c.1476+5G>A, RYR2(NM_001035.3):c.1476+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717322" "0" "30" "1" "237659836" "237659836" "subst" "3.25388E-5" "01943" "RYR2_000842" "g.237659836G>A" "" "" "" "RYR2(NM_001035.2):c.1987G>A (p.V663I), RYR2(NM_001035.3):c.1987G>A (p.V663I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717323" "0" "50" "1" "237659953" "237659953" "subst" "7.31024E-5" "02329" "RYR2_000845" "g.237659953G>A" "" "" "" "RYR2(NM_001035.3):c.2104G>A (p.G702R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717324" "0" "30" "1" "237664074" "237664074" "subst" "0.000219366" "02326" "RYR2_001390" "g.237664074G>A" "" "" "" "RYR2(NM_001035.3):c.2267G>A (p.S756N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717325" "0" "50" "1" "237666615" "237666615" "subst" "4.1111E-6" "02330" "RYR2_001271" "g.237666615A>G" "" "" "" "RYR2(NM_001035.3):c.2423A>G (p.H808R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717326" "0" "10" "1" "237666646" "237666646" "subst" "0" "02330" "RYR2_001391" "g.237666646G>A" "" "" "" "RYR2(NM_001035.3):c.2454G>A (p.G818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717327" "0" "10" "1" "237666821" "237666821" "subst" "0.000240649" "02330" "RYR2_001392" "g.237666821C>T" "" "" "" "RYR2(NM_001035.3):c.2613+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717328" "0" "30" "1" "237675041" "237675041" "subst" "0" "01943" "RYR2_000861" "g.237675041G>A" "" "" "" "RYR2(NM_001035.2):c.2772G>A (p.L924=), RYR2(NM_001035.3):c.2772G>A (p.L924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717329" "0" "10" "1" "237774133" "237774133" "subst" "1.63881E-5" "02330" "RYR2_001340" "g.237774133C>T" "" "" "" "RYR2(NM_001035.2):c.4755C>T (p.R1585=), RYR2(NM_001035.3):c.4755C>T (p.R1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717330" "0" "30" "1" "237774139" "237774139" "subst" "4.50207E-5" "01943" "RYR2_001393" "g.237774139C>T" "" "" "" "RYR2(NM_001035.2):c.4761C>T (p.H1587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717331" "0" "30" "1" "237777999" "237777999" "subst" "0.000187454" "01943" "RYR2_001394" "g.237777999G>A" "" "" "" "RYR2(NM_001035.2):c.5571G>A (p.P1857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717332" "0" "50" "1" "237787071" "237787071" "subst" "6.95729E-5" "02330" "RYR2_001176" "g.237787071A>G" "" "" "" "RYR2(NM_001035.2):c.5923A>G (p.M1975V), RYR2(NM_001035.3):c.5923A>G (p.M1975V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717333" "0" "50" "1" "237787071" "237787071" "subst" "6.95729E-5" "01943" "RYR2_001176" "g.237787071A>G" "" "" "" "RYR2(NM_001035.2):c.5923A>G (p.M1975V), RYR2(NM_001035.3):c.5923A>G (p.M1975V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717334" "0" "50" "1" "237787126" "237787126" "subst" "1.62499E-5" "01943" "RYR2_001395" "g.237787126G>A" "" "" "" "RYR2(NM_001035.2):c.5978G>A (p.R1993H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717335" "0" "50" "1" "237791310" "237791310" "subst" "0" "02325" "RYR2_001396" "g.237791310G>A" "" "" "" "RYR2(NM_001035.3):c.6370G>A (p.G2124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717336" "0" "50" "1" "237794822" "237794822" "subst" "0" "01943" "RYR2_001397" "g.237794822T>C" "" "" "" "RYR2(NM_001035.2):c.6536T>C (p.L2179P), RYR2(NM_001035.3):c.6536T>C (p.L2179P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717337" "0" "50" "1" "237798264" "237798264" "subst" "0" "02330" "RYR2_001398" "g.237798264T>A" "" "" "" "RYR2(NM_001035.2):c.6764T>A (p.L2255*), RYR2(NM_001035.3):c.6764T>A (p.L2255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717338" "0" "50" "1" "237798264" "237798264" "subst" "0" "01943" "RYR2_001398" "g.237798264T>A" "" "" "" "RYR2(NM_001035.2):c.6764T>A (p.L2255*), RYR2(NM_001035.3):c.6764T>A (p.L2255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717339" "0" "30" "1" "237811895" "237811895" "subst" "3.76995E-5" "02326" "RYR2_001399" "g.237811895G>A" "" "" "" "RYR2(NM_001035.3):c.7494G>A (p.A2498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717340" "0" "50" "1" "237813361" "237813361" "subst" "8.12354E-6" "02330" "RYR2_001400" "g.237813361G>C" "" "" "" "RYR2(NM_001035.2):c.7697G>C (p.R2566P), RYR2(NM_001035.3):c.7697G>C (p.R2566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717341" "0" "50" "1" "237813361" "237813361" "subst" "8.12354E-6" "01943" "RYR2_001400" "g.237813361G>C" "" "" "" "RYR2(NM_001035.2):c.7697G>C (p.R2566P), RYR2(NM_001035.3):c.7697G>C (p.R2566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717342" "0" "50" "1" "237862292" "237862292" "subst" "0" "02326" "RYR2_001401" "g.237862292G>C" "" "" "" "RYR2(NM_001035.3):c.9095G>C (p.C3032S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717343" "0" "50" "1" "237870529" "237870529" "subst" "0" "02330" "RYR2_001402" "g.237870529C>G" "" "" "" "RYR2(NM_001035.3):c.9861C>G (p.N3287K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717344" "0" "30" "1" "237875150" "237875150" "dup" "0" "01943" "RYR2_001403" "g.237875150dup" "" "" "" "RYR2(NM_001035.2):c.10323+13dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717345" "0" "30" "1" "237880555" "237880555" "subst" "0.000138284" "01943" "RYR2_001404" "g.237880555A>G" "" "" "" "RYR2(NM_001035.2):c.10381A>G (p.M3461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717346" "0" "50" "1" "237890478" "237890478" "subst" "0" "02325" "RYR2_001405" "g.237890478C>T" "" "" "" "RYR2(NM_001035.3):c.10817C>T (p.A3606V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717347" "0" "50" "1" "237919648" "237919648" "subst" "1.22172E-5" "02330" "RYR2_001406" "g.237919648G>A" "" "" "" "RYR2(NM_001035.3):c.11206G>A (p.A3736T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717348" "0" "30" "1" "237924334" "237924334" "subst" "0" "02326" "RYR2_001407" "g.237924334A>G" "" "" "" "RYR2(NM_001035.3):c.11476+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717349" "0" "50" "1" "237954742" "237954742" "subst" "0" "02326" "RYR2_001408" "g.237954742G>A" "" "" "" "RYR2(NM_001035.3):c.13490G>A (p.R4497H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717350" "0" "10" "1" "237965144" "237965145" "dup" "0" "02330" "RYR2_001086" "g.237965144_237965145dup" "" "" "" "RYR2(NM_001035.3):c.14091-12_14091-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717351" "0" "10" "1" "237982383" "237982383" "subst" "0.000954749" "02326" "RYR2_001094" "g.237982383C>A" "" "" "" "RYR2(NM_001035.2):c.14481C>A (p.I4827=), RYR2(NM_001035.3):c.14481C>A (p.I4827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717352" "0" "10" "1" "237994810" "237994810" "subst" "0" "02330" "RYR2_001409" "g.237994810G>A" "" "" "" "RYR2(NM_001035.3):c.14757-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000734740" "0" "30" "1" "237996664" "237996664" "subst" "0" "00000" "RYR2_001410" "g.237996664G>C" "10/25 families" "{PMID:Maranhao 2015:26352687}" "" "RYR2:c.*717G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734741" "0" "30" "1" "237996670" "237996670" "subst" "0" "00000" "RYR2_001411" "g.237996670G>C" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "RYR2:c.*723G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000799214" "0" "10" "1" "237608841" "237608841" "subst" "0.000329993" "02330" "RYR2_001412" "g.237608841G>A" "" "" "" "RYR2(NM_001035.3):c.1292+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799215" "0" "30" "1" "237711775" "237711775" "subst" "0" "01943" "RYR2_001413" "g.237711775G>C" "" "" "" "RYR2(NM_001035.2):c.2951G>C (p.S984T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799216" "0" "30" "1" "237713945" "237713945" "subst" "1.61636E-5" "02326" "RYR2_001414" "g.237713945G>A" "" "" "" "RYR2(NM_001035.3):c.3168G>A (p.T1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799217" "0" "30" "1" "237729896" "237729896" "subst" "1.62681E-5" "01943" "RYR2_001415" "g.237729896G>A" "" "" "" "RYR2(NM_001035.2):c.3244G>A (p.G1082R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799218" "0" "50" "1" "237753294" "237753294" "subst" "4.09813E-6" "02330" "RYR2_001416" "g.237753294A>T" "" "" "" "RYR2(NM_001035.3):c.3800A>T (p.H1267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799219" "0" "30" "1" "237753981" "237753981" "subst" "0.000631474" "01943" "RYR2_001417" "g.237753981A>G" "" "" "" "RYR2(NM_001035.2):c.3849A>G (p.L1283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799220" "0" "10" "1" "237754226" "237754226" "subst" "0.000404022" "02326" "RYR2_001418" "g.237754226C>T" "" "" "" "RYR2(NM_001035.3):c.4094C>T (p.A1365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799221" "0" "30" "1" "237754257" "237754257" "subst" "4.09853E-6" "01943" "RYR2_001419" "g.237754257T>C" "" "" "" "RYR2(NM_001035.2):c.4125T>C (p.D1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799222" "0" "50" "1" "237754280" "237754280" "subst" "2.06368E-5" "02330" "RYR2_000884" "g.237754280G>A" "" "" "" "RYR2(NM_001035.3):c.4148G>A (p.R1383H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799223" "0" "30" "1" "237765380" "237765380" "subst" "0.000264777" "01943" "RYR2_001359" "g.237765380A>G" "" "" "" "RYR2(NM_001035.2):c.4652A>G (p.N1551S), RYR2(NM_001035.3):c.4652A>G (p.N1551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799224" "0" "30" "1" "237802451" "237802451" "subst" "0" "01943" "RYR2_001420" "g.237802451G>A" "" "" "" "RYR2(NM_001035.2):c.7065G>A (p.E2355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799225" "0" "50" "1" "237804238" "237804238" "subst" "0" "02325" "RYR2_001421" "g.237804238A>G" "" "" "" "RYR2(NM_001035.3):c.7157A>G (p.N2386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799226" "0" "50" "1" "237870287" "237870287" "subst" "4.47293E-5" "02326" "RYR2_001367" "g.237870287A>G" "" "" "" "RYR2(NM_001035.2):c.9619A>G (p.N3207D), RYR2(NM_001035.3):c.9619A>G (p.N3207D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799227" "0" "50" "1" "237890477" "237890477" "subst" "0" "02325" "RYR2_001226" "g.237890477G>A" "" "" "" "RYR2(NM_001035.3):c.10816G>A (p.A3606T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799228" "0" "30" "1" "237920993" "237920993" "subst" "0" "01943" "RYR2_001422" "g.237920993T>C" "" "" "" "RYR2(NM_001035.2):c.11246-4T>C, RYR2(NM_001035.3):c.11246-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799229" "0" "30" "1" "237935388" "237935388" "subst" "0" "02326" "RYR2_001423" "g.237935388A>G" "" "" "" "RYR2(NM_001035.3):c.11634A>G (p.L3878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799230" "0" "10" "1" "237947123" "237947123" "subst" "2.03754E-5" "02330" "RYR2_001045" "g.237947123C>T" "" "" "" "RYR2(NM_001035.3):c.12111C>T (p.P4037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799231" "0" "30" "1" "237947225" "237947225" "subst" "0" "01943" "RYR2_001424" "g.237947225G>A" "" "" "" "RYR2(NM_001035.2):c.12213G>A (p.E4071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799232" "0" "30" "1" "237947771" "237947771" "subst" "0" "01943" "RYR2_001425" "g.237947771G>A" "" "" "" "RYR2(NM_001035.2):c.12759G>A (p.L4253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799233" "0" "30" "1" "237955507" "237955507" "subst" "4.07037E-5" "02325" "RYR2_000658" "g.237955507G>A" "" "" "" "RYR2(NM_001035.2):c.13666G>A (p.A4556T), RYR2(NM_001035.3):c.13666G>A (p.A4556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799234" "0" "50" "1" "237957256" "237957256" "subst" "0" "02325" "RYR2_001426" "g.237957256T>A" "" "" "" "RYR2(NM_001035.3):c.13872T>A (p.D4624E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799235" "0" "90" "1" "237969536" "237969536" "subst" "0" "02329" "RYR2_001427" "g.237969536A>G" "" "" "" "RYR2(NM_001035.3):c.14251A>G (p.K4751E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799236" "0" "10" "1" "237993901" "237993901" "subst" "0" "02330" "RYR2_001428" "g.237993901T>A" "" "" "" "RYR2(NM_001035.3):c.14727T>A (p.T4909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848617" "0" "30" "1" "237532811" "237532813" "del" "0" "02327" "RYR2_000794" "g.237532811_237532813del" "" "" "" "RYR2(NM_001035.3):c.310-23_310-21delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848618" "0" "10" "1" "237550698" "237550698" "subst" "0" "02330" "RYR2_001429" "g.237550698A>G" "" "" "" "RYR2(NM_001035.3):c.676+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848619" "0" "50" "1" "237580357" "237580357" "subst" "8.12836E-6" "02330" "RYR2_000808" "g.237580357A>G" "" "" "" "RYR2(NM_001035.3):c.782A>G (p.H261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848620" "0" "50" "1" "237580392" "237580392" "subst" "0" "01943" "RYR2_001431" "g.237580392T>A" "" "" "" "RYR2(NM_001035.2):c.817T>A (p.S273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848622" "0" "50" "1" "237659950" "237659950" "subst" "8.12229E-6" "02325" "RYR2_001434" "g.237659950G>A" "" "" "" "RYR2(NM_001035.3):c.2101G>A (p.E701K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848623" "0" "10" "1" "237663995" "237663995" "subst" "0.000569231" "02326" "RYR2_000846" "g.237663995G>T" "" "" "" "RYR2(NM_001035.3):c.2204-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848624" "0" "30" "1" "237664074" "237664074" "subst" "0.000219366" "02325" "RYR2_001390" "g.237664074G>A" "" "" "" "RYR2(NM_001035.3):c.2267G>A (p.S756N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848625" "0" "50" "1" "237729890" "237729890" "subst" "2.84766E-5" "02330" "RYR2_001436" "g.237729890G>A" "" "" "" "RYR2(NM_001035.3):c.3238G>A (p.G1080S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848626" "0" "30" "1" "237732558" "237732558" "subst" "0.000877913" "02327" "RYR2_001437" "g.237732558T>C" "" "" "" "RYR2(NM_001035.3):c.3537T>C (p.(Gly1179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848627" "0" "30" "1" "237754208" "237754208" "subst" "1.62959E-5" "02327" "RYR2_001160" "g.237754208T>C" "" "" "" "RYR2(NM_001035.2):c.4076T>C (p.V1359A), RYR2(NM_001035.3):c.4076T>C (p.V1359A, p.(Val1359Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848628" "0" "50" "1" "237774233" "237774233" "subst" "0" "01943" "RYR2_001438" "g.237774233G>A" "" "" "" "RYR2(NM_001035.2):c.4855G>A (p.V1619M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848629" "0" "30" "1" "237777579" "237777579" "subst" "0" "02327" "RYR2_001439" "g.237777579C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848630" "0" "50" "1" "237777937" "237777937" "subst" "2.03693E-5" "02326" "RYR2_000759" "g.237777937G>A" "" "" "" "RYR2(NM_001035.3):c.5509G>A (p.E1837K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848631" "0" "30" "1" "237778019" "237778019" "subst" "0" "02327" "RYR2_001172" "g.237778019T>C" "" "" "" "RYR2(NM_001035.3):c.5591T>C (p.L1864P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848632" "0" "30" "1" "237778079" "237778079" "subst" "0" "02327" "RYR2_001440" "g.237778079A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848633" "0" "50" "1" "237780692" "237780692" "subst" "3.25359E-5" "02327" "RYR2_001360" "g.237780692G>A" "" "" "" "RYR2(NM_001035.3):c.5822G>A (p.(Arg1941His), p.R1941H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848634" "0" "50" "1" "237787153" "237787153" "subst" "0" "02327" "RYR2_001441" "g.237787153A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848635" "0" "30" "1" "237789076" "237789076" "subst" "0" "02327" "RYR2_001179" "g.237789076A>G" "" "" "" "RYR2(NM_001035.2):c.6138A>G (p.K2046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848636" "0" "50" "1" "237794847" "237794847" "subst" "0.000522852" "01943" "RYR2_001443" "g.237794847G>A" "" "" "" "RYR2(NM_001035.2):c.6555+6G>A, RYR2(NM_001035.3):c.6555+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848637" "0" "50" "1" "237802338" "237802338" "subst" "8.12711E-6" "02327" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848638" "0" "70" "1" "237802359" "237802359" "subst" "0" "02327" "RYR2_001444" "g.237802359A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848639" "0" "10" "1" "237802424" "237802424" "subst" "0.0010407" "02326" "RYR2_000928" "g.237802424A>C" "" "" "" "RYR2(NM_001035.3):c.7038A>C (p.A2346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848640" "0" "10" "1" "237841339" "237841339" "subst" "0.00023801" "02330" "RYR2_001208" "g.237841339A>C" "" "" "" "RYR2(NM_001035.3):c.8831-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848642" "0" "50" "1" "237870446" "237870446" "subst" "4.88059E-5" "02330" "RYR2_001447" "g.237870446C>T" "" "" "" "RYR2(NM_001035.3):c.9778C>T (p.R3260W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848643" "0" "50" "1" "237875132" "237875132" "subst" "0" "02327" "RYR2_001448" "g.237875132T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848644" "0" "50" "1" "237881784" "237881784" "subst" "2.85598E-5" "02327" "RYR2_001000" "g.237881784G>A" "" "" "" "RYR2(NM_001035.3):c.10517G>A (p.(Arg3506Gln), p.R3506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848645" "0" "50" "1" "237893603" "237893603" "subst" "0" "02327" "RYR2_001451" "g.237893603T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848646" "0" "30" "1" "237896997" "237896997" "subst" "1.63865E-5" "01943" "RYR2_001452" "g.237896997T>C" "" "" "" "RYR2(NM_001035.2):c.11040-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848647" "0" "10" "1" "237934087" "237934087" "subst" "0" "02330" "RYR2_001230" "g.237934087T>A" "" "" "" "RYR2(NM_001035.3):c.11477-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848648" "0" "10" "1" "237942025" "237942025" "subst" "0.00206812" "02326" "RYR2_001036" "g.237942025C>T" "" "" "" "RYR2(NM_001035.2):c.11835C>T (p.V3945=), RYR2(NM_001035.3):c.11835C>T (p.V3945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848649" "0" "30" "1" "237947171" "237947171" "subst" "0.000938056" "02327" "RYR2_001046" "g.237947171G>A" "" "" "" "RYR2(NM_001035.2):c.12159G>A (p.E4053=), RYR2(NM_001035.3):c.12159G>A (p.E4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848650" "0" "50" "1" "237947247" "237947247" "subst" "0" "02327" "RYR2_001454" "g.237947247G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848651" "0" "30" "1" "237947564" "237947564" "subst" "4.06663E-6" "01943" "RYR2_001455" "g.237947564G>A" "" "" "" "RYR2(NM_001035.2):c.12552G>A (p.E4184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848652" "0" "50" "1" "237947675" "237947675" "subst" "0.000122191" "01943" "RYR2_001240" "g.237947675C>T" "" "" "" "RYR2(NM_001035.2):c.12663C>T (p.S4221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848653" "0" "30" "1" "237947717" "237947717" "subst" "0.000371304" "02327" "RYR2_001055" "g.237947717C>T" "" "" "" "RYR2(NM_001035.2):c.12705C>T (p.F4235=), RYR2(NM_001035.3):c.12705C>T (p.F4235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848654" "0" "50" "1" "237948105" "237948105" "subst" "3.26616E-5" "02325" "RYR2_001242" "g.237948105G>A" "" "" "" "RYR2(NM_001035.3):c.13093G>A (p.D4365N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848655" "0" "30" "1" "237955703" "237955703" "subst" "0" "02327" "RYR2_001457" "g.237955703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848656" "0" "30" "1" "237957304" "237957304" "subst" "0" "02327" "RYR2_001458" "g.237957304A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848657" "0" "30" "1" "237969419" "237969419" "subst" "8.17247E-6" "02326" "RYR2_001459" "g.237969419C>T" "" "" "" "RYR2(NM_001035.3):c.14152-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848658" "0" "90" "1" "237972213" "237972213" "subst" "0" "02325" "RYR2_000729" "g.237972213G>A" "" "" "" "RYR2(NM_001035.3):c.14311G>A (p.V4771I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857375" "0" "50" "1" "237551479" "237551479" "subst" "1.22336E-5" "02326" "RYR2_001430" "g.237551479C>T" "" "" "" "RYR2(NM_001035.3):c.769C>T (p.R257W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857376" "0" "10" "1" "237617751" "237617751" "subst" "4.07335E-5" "02330" "RYR2_001432" "g.237617751C>T" "" "" "" "RYR2(NM_001035.3):c.1353C>T (p.S451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857377" "0" "50" "1" "237619915" "237619915" "subst" "2.24848E-5" "01943" "RYR2_001433" "g.237619915G>A" "" "" "" "RYR2(NM_001035.2):c.1492G>A (p.V498M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857378" "0" "10" "1" "237664000" "237664000" "subst" "0" "02330" "RYR2_001435" "g.237664000C>T" "" "" "" "RYR2(NM_001035.3):c.2204-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857379" "0" "10" "1" "237754020" "237754020" "subst" "0.000648674" "02330" "RYR2_000881" "g.237754020C>T" "" "" "" "RYR2(NM_001035.2):c.3888C>T (p.N1296=), RYR2(NM_001035.3):c.3888C>T (p.N1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857380" "0" "50" "1" "237789020" "237789020" "subst" "8.12777E-6" "02325" "RYR2_001442" "g.237789020C>T" "" "" "" "RYR2(NM_001035.3):c.6082C>T (p.R2028C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857381" "0" "50" "1" "237868638" "237868638" "subst" "0" "02325" "RYR2_001446" "g.237868638G>T" "" "" "" "RYR2(NM_001035.3):c.9575G>T (p.R3192I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857382" "0" "10" "1" "237890380" "237890380" "subst" "8.14418E-6" "02330" "RYR2_001449" "g.237890380A>G" "" "" "" "RYR2(NM_001035.3):c.10726-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857383" "0" "30" "1" "237890503" "237890503" "subst" "2.48588E-5" "01943" "RYR2_001450" "g.237890503G>A" "" "" "" "RYR2(NM_001035.2):c.10838+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857384" "0" "30" "1" "237924239" "237924239" "subst" "1.89301E-5" "02326" "RYR2_001453" "g.237924239T>C" "" "" "" "RYR2(NM_001035.3):c.11403-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857385" "0" "30" "1" "237947690" "237947690" "subst" "4.07534E-6" "02326" "RYR2_001456" "g.237947690G>A" "" "" "" "RYR2(NM_001035.3):c.12678G>A (p.P4226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857386" "0" "30" "1" "237994795" "237994795" "subst" "0.000580779" "02326" "RYR2_001102" "g.237994795A>G" "" "" "" "RYR2(NM_001035.2):c.14757-19A>G, RYR2(NM_001035.3):c.14757-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883267" "0" "10" "1" "237538113" "237538113" "subst" "1.72964E-5" "02330" "RYR2_001460" "g.237538113C>T" "" "" "" "RYR2(NM_001035.3):c.463+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883268" "0" "30" "1" "237540742" "237540742" "subst" "0.00148016" "02326" "RYR2_000800" "g.237540742G>C" "" "" "" "RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883269" "0" "30" "1" "237604721" "237604721" "subst" "0.000224743" "02326" "RYR2_001127" "g.237604721C>T" "" "" "" "RYR2(NM_001035.2):c.1108C>T (p.L370=), RYR2(NM_001035.3):c.1108C>T (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883270" "0" "50" "1" "237604757" "237604757" "subst" "7.12501E-5" "02326" "RYR2_000819" "g.237604757G>A" "" "" "" "RYR2(NM_001035.3):c.1144G>A (p.V382M, p.(Val382Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883271" "0" "10" "1" "237617757" "237617757" "subst" "0.581893" "02329" "RYR2_000829" "g.237617757C>T" "" "" "" "RYR2(NM_001035.3):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883272" "0" "50" "1" "237617852" "237617852" "subst" "8.56339E-5" "02326" "RYR2_000830" "g.237617852G>A" "" "" "" "RYR2(NM_001035.2):c.1454G>A (p.R485Q, p.(Arg485Gln)), RYR2(NM_001035.3):c.1454G>A (p.R485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883273" "0" "50" "1" "237664047" "237664047" "subst" "0" "02330" "RYR2_001461" "g.237664047A>G" "" "" "" "RYR2(NM_001035.3):c.2240A>G (p.H747R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883274" "0" "50" "1" "237670113" "237670113" "subst" "3.66763E-5" "02327" "RYR2_000859" "g.237670113C>T" "" "" "" "RYR2(NM_001035.3):c.2717C>T (p.(Pro906Leu), p.P906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883275" "0" "50" "1" "237693732" "237693732" "subst" "0.000106548" "02326" "RYR2_001147" "g.237693732T>C" "" "" "" "RYR2(NM_001035.2):c.2828T>C (p.L943S), RYR2(NM_001035.3):c.2828T>C (p.L943S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883276" "0" "30" "1" "237711791" "237711791" "subst" "0" "02327" "RYR2_001462" "g.237711791C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883277" "0" "10" "1" "237711797" "237711797" "subst" "0.932851" "02329" "RYR2_000863" "g.237711797A>G" "" "" "" "RYR2(NM_001035.3):c.2973A>G (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883278" "0" "30" "1" "237711854" "237711854" "subst" "0.00205964" "02326" "RYR2_001150" "g.237711854T>C" "" "" "" "RYR2(NM_001035.2):c.3030T>C (p.D1010=), RYR2(NM_001035.3):c.3030T>C (p.D1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883279" "0" "50" "1" "237730049" "237730049" "subst" "4.06355E-6" "02325" "RYR2_001463" "g.237730049C>T" "" "" "" "RYR2(NM_001035.3):c.3397C>T (p.R1133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883280" "0" "50" "1" "237755118" "237755118" "subst" "4.07671E-6" "02330" "RYR2_001464" "g.237755118C>T" "" "" "" "RYR2(NM_001035.3):c.4240C>T (p.R1414W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883281" "0" "50" "1" "237758926" "237758926" "subst" "0" "02330" "RYR2_001465" "g.237758926C>T" "" "" "" "RYR2(NM_001035.3):c.4565C>T (p.A1522V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883282" "0" "30" "1" "237777418" "237777418" "subst" "4.0662E-5" "02327" "RYR2_001466" "g.237777418G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883283" "0" "30" "1" "237777627" "237777627" "subst" "9.35636E-5" "02327" "RYR2_001467" "g.237777627G>A" "" "" "" "RYR2(NM_001035.3):c.5199G>A (p.T1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883284" "0" "10" "1" "237777945" "237777945" "subst" "1.22205E-5" "02330" "RYR2_001468" "g.237777945G>A" "" "" "" "RYR2(NM_001035.3):c.5517G>A (p.L1839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883285" "0" "50" "1" "237780697" "237780697" "subst" "4.06699E-6" "02327" "RYR2_001469" "g.237780697C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883286" "0" "30" "1" "237791400" "237791400" "subst" "0.00276259" "02326" "RYR2_001181" "g.237791400C>T" "" "" "" "RYR2(NM_001035.3):c.6440+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883287" "0" "30" "1" "237794849" "237794849" "subst" "0.000536826" "02326" "RYR2_000922" "g.237794849C>T" "" "" "" "RYR2(NM_001035.2):c.6555+8C>T, RYR2(NM_001035.3):c.6555+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883288" "0" "30" "1" "237798226" "237798226" "subst" "5.01542E-5" "02326" "RYR2_001342" "g.237798226G>A" "" "" "" "RYR2(NM_001035.3):c.6726G>A (p.V2242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883289" "0" "70" "1" "237802395" "237802395" "subst" "0" "02327" "RYR2_001189" "g.237802395G>A" "" "" "" "RYR2(NM_001035.3):c.7009G>A (p.G2337R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883290" "0" "50" "1" "237811744" "237811744" "subst" "0" "02325" "RYR2_001470" "g.237811744A>T" "" "" "" "RYR2(NM_001035.3):c.7343A>T (p.D2448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883291" "0" "50" "1" "237811749" "237811749" "subst" "0" "02330" "RYR2_001471" "g.237811749A>G" "" "" "" "RYR2(NM_001035.3):c.7348A>G (p.N2450D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883292" "0" "50" "1" "237811890" "237811890" "subst" "0" "02330" "RYR2_001472" "g.237811890C>T" "" "" "" "RYR2(NM_001035.3):c.7489C>T (p.R2497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883293" "0" "30" "1" "237811895" "237811895" "subst" "3.76995E-5" "02330" "RYR2_001399" "g.237811895G>A" "" "" "" "RYR2(NM_001035.3):c.7494G>A (p.A2498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883294" "0" "30" "1" "237819183" "237819183" "subst" "5.42394E-5" "02326" "RYR2_001473" "g.237819183G>A" "" "" "" "RYR2(NM_001035.3):c.8028G>A (p.L2676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883295" "0" "50" "1" "237819218" "237819218" "subst" "4.08958E-6" "02330" "RYR2_001201" "g.237819218T>A" "" "" "" "RYR2(NM_001035.2):c.8063T>A (p.M2688K), RYR2(NM_001035.3):c.8063T>A (p.M2688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883296" "0" "50" "1" "237819218" "237819218" "subst" "4.08958E-6" "02326" "RYR2_001201" "g.237819218T>A" "" "" "" "RYR2(NM_001035.2):c.8063T>A (p.M2688K), RYR2(NM_001035.3):c.8063T>A (p.M2688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883297" "0" "50" "1" "237819218" "237819218" "subst" "4.08958E-6" "02327" "RYR2_001201" "g.237819218T>A" "" "" "" "RYR2(NM_001035.2):c.8063T>A (p.M2688K), RYR2(NM_001035.3):c.8063T>A (p.M2688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883298" "0" "50" "1" "237837426" "237837426" "subst" "0" "02327" "RYR2_000956" "g.237837426A>G" "" "" "" "RYR2(NM_001035.3):c.8621A>G (p.Y2874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883299" "0" "30" "1" "237863590" "237863590" "subst" "0.000114525" "02327" "RYR2_000971" "g.237863590G>A" "" "" "" "RYR2(NM_001035.3):c.9190G>A (p.A3064T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883300" "0" "30" "1" "237872219" "237872219" "subst" "0.000139419" "02326" "RYR2_000986" "g.237872219G>A" "" "" "" "RYR2(NM_001035.3):c.9963G>A (p.P3321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883301" "0" "30" "1" "237872244" "237872244" "subst" "0" "02327" "RYR2_001303" "g.237872244G>A" "" "" "" "RYR2(NM_001035.3):c.9988G>A (p.A3330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883302" "0" "10" "1" "237875041" "237875041" "subst" "0.000731164" "02330" "RYR2_001218" "g.237875041T>C" "" "" "" "RYR2(NM_001035.3):c.10231-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883303" "0" "10" "1" "237890437" "237890437" "subst" "0.990652" "02329" "RYR2_001004" "g.237890437C>T" "" "" "" "RYR2(NM_001035.3):c.10776C>T (p.S3592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883304" "0" "30" "1" "237920993" "237920993" "subst" "0" "02326" "RYR2_001422" "g.237920993T>C" "" "" "" "RYR2(NM_001035.2):c.11246-4T>C, RYR2(NM_001035.3):c.11246-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883305" "0" "30" "1" "237923159" "237923159" "subst" "4.20921E-6" "02327" "RYR2_001474" "g.237923159A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883306" "0" "10" "1" "237946964" "237946964" "subst" "0.382176" "02329" "RYR2_001040" "g.237946964T>C" "" "" "" "RYR2(NM_001035.3):c.11963-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883307" "0" "30" "1" "237947201" "237947201" "subst" "2.04576E-5" "02327" "RYR2_001047" "g.237947201G>A" "" "" "" "RYR2(NM_001035.2):c.12189G>A (p.T4063=), RYR2(NM_001035.3):c.12189G>A (p.T4063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883308" "0" "50" "1" "237947262" "237947262" "subst" "0" "02326" "RYR2_001475" "g.237947262G>A" "" "" "" "RYR2(NM_001035.3):c.12250G>A (p.V4084I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883309" "0" "30" "1" "237947285" "237947285" "subst" "4.0833E-6" "02326" "RYR2_001476" "g.237947285G>A" "" "" "" "RYR2(NM_001035.3):c.12273G>A (p.A4091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883310" "0" "70" "1" "237947563" "237947563" "subst" "0" "02330" "RYR2_001477" "g.237947563A>G" "" "" "" "RYR2(NM_001035.3):c.12551A>G (p.E4184G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883311" "0" "50" "1" "237947931" "237947931" "subst" "0.000333765" "02325" "RYR2_000627" "g.237947931C>T" "" "" "" "RYR2(NM_001035.2):c.12919C>T (p.R4307C), RYR2(NM_001035.3):c.12919C>T (p.R4307C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883312" "0" "50" "1" "237955600" "237955600" "subst" "0" "02330" "RYR2_001478" "g.237955600A>C" "" "" "" "RYR2(NM_001035.3):c.13759A>C (p.I4587L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883313" "0" "10" "1" "237957161" "237957161" "subst" "0.737568" "02329" "RYR2_001074" "g.237957161A>G" "" "" "" "RYR2(NM_001035.3):c.13783-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883314" "0" "10" "1" "237957309" "237957309" "subst" "0.731941" "02329" "RYR2_001075" "g.237957309A>C" "" "" "" "RYR2(NM_001035.3):c.13913+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883315" "0" "10" "1" "237961357" "237961357" "subst" "0.00238381" "02326" "RYR2_001078" "g.237961357G>A" "" "" "" "RYR2(NM_001035.3):c.13977G>A (p.E4659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883316" "0" "10" "1" "237961409" "237961409" "subst" "0.00103133" "02326" "RYR2_001080" "g.237961409C>T" "" "" "" "RYR2(NM_001035.2):c.14029C>T (p.L4677=), RYR2(NM_001035.3):c.14029C>T (p.L4677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883317" "0" "50" "1" "237961435" "237961435" "subst" "0" "02326" "RYR2_001479" "g.237961435G>T" "" "" "" "RYR2(NM_001035.3):c.14055G>T (p.K4685N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883318" "0" "50" "1" "237965197" "237965197" "subst" "0" "02330" "RYR2_001480" "g.237965197G>A" "" "" "" "RYR2(NM_001035.3):c.14132G>A (p.G4711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883319" "0" "30" "1" "237969505" "237969505" "subst" "0" "02326" "RYR2_001481" "g.237969505C>G" "" "" "" "RYR2(NM_001035.3):c.14220C>G (p.A4740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883320" "0" "10" "1" "237994882" "237994882" "subst" "6.48609E-5" "02330" "RYR2_001106" "g.237994882A>C" "" "" "" "RYR2(NM_001035.3):c.14808+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000909789" "0" "50" "1" "237806732" "237806732" "subst" "0" "03779" "RYR2_001482" "g.237806732C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000910995" "0" "10" "1" "237550693" "237550697" "del" "0" "02330" "RYR2_001483" "g.237550693_237550697del" "" "" "" "RYR2(NM_001035.3):c.676+13_676+17delCTTCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910996" "0" "10" "1" "237604721" "237604721" "subst" "0.000224743" "02330" "RYR2_001127" "g.237604721C>T" "" "" "" "RYR2(NM_001035.2):c.1108C>T (p.L370=), RYR2(NM_001035.3):c.1108C>T (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910997" "0" "90" "1" "237608789" "237608789" "subst" "0" "02330" "RYR2_000753" "g.237608789G>A" "" "" "" "RYR2(NM_001035.3):c.1259G>A (p.R420Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910998" "0" "50" "1" "237670113" "237670113" "subst" "3.66763E-5" "02326" "RYR2_000859" "g.237670113C>T" "" "" "" "RYR2(NM_001035.3):c.2717C>T (p.(Pro906Leu), p.P906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910999" "0" "30" "1" "237794847" "237794847" "subst" "0.000522852" "02325" "RYR2_001443" "g.237794847G>A" "" "" "" "RYR2(NM_001035.2):c.6555+6G>A, RYR2(NM_001035.3):c.6555+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911000" "0" "50" "1" "237804238" "237804238" "subst" "0" "02330" "RYR2_001421" "g.237804238A>G" "" "" "" "RYR2(NM_001035.3):c.7157A>G (p.N2386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911001" "0" "70" "1" "237813317" "237813318" "ins" "0" "02330" "RYR2_001484" "g.237813317_237813318insTTCATA" "" "" "" "RYR2(NM_001035.3):c.7653_7654insTTCATA (p.T2551_V2552insFI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911002" "0" "50" "1" "237863659" "237863659" "subst" "0" "02330" "RYR2_001210" "g.237863659C>T" "" "" "" "RYR2(NM_001035.3):c.9259C>T (p.P3087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911003" "0" "50" "1" "237865340" "237865340" "subst" "4.07661E-6" "02326" "RYR2_001485" "g.237865340A>G" "" "" "" "RYR2(NM_001035.3):c.9430A>G (p.K3144E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911004" "0" "50" "1" "237868608" "237868608" "subst" "0" "02327" "RYR2_001486" "g.237868608C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911005" "0" "10" "1" "237872303" "237872303" "subst" "3.25373E-5" "02330" "RYR2_001487" "g.237872303G>A" "" "" "" "RYR2(NM_001035.3):c.10047G>A (p.S3349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911006" "0" "30" "1" "237872858" "237872858" "subst" "8.41439E-5" "02326" "RYR2_000994" "g.237872858G>A" "" "" "" "RYR2(NM_001035.3):c.10221G>A (p.S3407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911007" "0" "10" "1" "237944847" "237944847" "subst" "0" "02330" "RYR2_001488" "g.237944847C>T" "" "" "" "RYR2(NM_001035.3):c.11881-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911008" "0" "10" "1" "237995832" "237995832" "subst" "0.00401194" "02326" "RYR2_001107" "g.237995832C>T" "" "" "" "RYR2(NM_001035.2):c.14809-20C>T, RYR2(NM_001035.3):c.14809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923130" "0" "70" "1" "237494250" "237494250" "subst" "0" "02330" "RYR2_000773" "g.237494250A>C" "" "" "" "RYR2(NM_001035.3):c.241A>C (p.M81L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923131" "0" "30" "1" "237777627" "237777627" "subst" "9.35636E-5" "02326" "RYR2_001467" "g.237777627G>A" "" "" "" "RYR2(NM_001035.3):c.5199G>A (p.T1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923132" "0" "50" "1" "237801698" "237801698" "subst" "0" "02330" "RYR2_001188" "g.237801698G>C" "" "" "" "RYR2(NM_001035.3):c.6834G>C (p.Q2278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923133" "0" "10" "1" "237824262" "237824262" "subst" "3.5466E-5" "02330" "RYR2_001204" "g.237824262C>T" "" "" "" "RYR2(NM_001035.3):c.8436+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923134" "0" "30" "1" "237982383" "237982383" "subst" "0.0022914" "02326" "RYR2_001095" "g.237982383C>T" "" "" "" "RYR2(NM_001035.3):c.14481C>T (p.I4827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923135" "0" "70" "1" "237982454" "237982454" "subst" "0" "02326" "RYR2_001489" "g.237982454T>C" "" "" "" "RYR2(NM_001035.3):c.14552T>C (p.F4851S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928141" "0" "10" "1" "237527692" "237527692" "subst" "0" "02330" "RYR2_001490" "g.237527692A>C" "" "" "" "RYR2(NM_001035.3):c.309+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928142" "0" "30" "1" "237604607" "237604607" "subst" "0.000179692" "02326" "RYR2_001125" "g.237604607C>T" "" "" "" "RYR2(NM_001035.3):c.1006-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928143" "0" "30" "1" "237608841" "237608841" "subst" "0.000329993" "02326" "RYR2_001412" "g.237608841G>A" "" "" "" "RYR2(NM_001035.3):c.1292+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928144" "0" "30" "1" "237670099" "237670099" "subst" "0" "02326" "RYR2_001491" "g.237670099C>A" "" "" "" "RYR2(NM_001035.3):c.2703C>A (p.G901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928145" "0" "50" "1" "237889612" "237889612" "subst" "5.86717E-5" "02330" "RYR2_001492" "g.237889612A>T" "" "" "" "RYR2(NM_001035.3):c.10725+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928146" "0" "10" "1" "237947552" "237947552" "subst" "2.44037E-5" "02330" "RYR2_001493" "g.237947552C>T" "" "" "" "RYR2(NM_001035.3):c.12540C>T (p.G4180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928147" "0" "50" "1" "237991721" "237991721" "subst" "0" "02330" "RYR2_001494" "g.237991721G>C" "" "" "" "RYR2(NM_001035.3):c.14631G>C (p.Q4877H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936223" "0" "50" "1" "237982492" "237982492" "subst" "0" "00006" "RYR2_001495" "g.237982492G>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001035:c.G14590C (G4864R)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000947175" "0" "50" "1" "237551398" "237551398" "subst" "0" "02329" "RYR2_001496" "g.237551398G>A" "" "" "" "RYR2(NM_001035.3):c.688G>A (p.G230S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947176" "0" "10" "1" "237664108" "237664108" "subst" "0.00240443" "02326" "RYR2_000849" "g.237664108G>T" "" "" "" "RYR2(NM_001035.2):c.2301G>T (p.S767=), RYR2(NM_001035.3):c.2301G>T (p.S767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947177" "0" "30" "1" "237666573" "237666573" "subst" "8.95273E-5" "02326" "RYR2_001497" "g.237666573C>T" "" "" "" "RYR2(NM_001035.3):c.2397-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947178" "0" "50" "1" "237753968" "237753968" "subst" "0" "02329" "RYR2_001498" "g.237753968G>T" "" "" "" "RYR2(NM_001035.3):c.3836G>T (p.S1279I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947179" "0" "30" "1" "237777484" "237777484" "subst" "2.43776E-5" "02327" "RYR2_000005" "g.237777484C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947180" "0" "30" "1" "237777582" "237777582" "subst" "0.000967661" "02326" "RYR2_000900" "g.237777582G>A" "" "" "" "RYR2(NM_001035.3):c.5154G>A (p.R1718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947181" "0" "30" "1" "237787053" "237787053" "subst" "6.21803E-5" "02326" "RYR2_001499" "g.237787053T>G" "" "" "" "RYR2(NM_001035.3):c.5917-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947182" "0" "10" "1" "237791333" "237791333" "subst" "1.2211E-5" "02330" "RYR2_001376" "g.237791333T>C" "" "" "" "RYR2(NM_001035.3):c.6393T>C (p.S2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947183" "0" "10" "1" "237798177" "237798177" "subst" "0.000308471" "02330" "RYR2_001500" "g.237798177T>C" "" "" "" "RYR2(NM_001035.3):c.6689-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947184" "0" "30" "1" "237813272" "237813272" "subst" "0.000255846" "02326" "RYR2_001501" "g.237813272T>C" "" "" "" "RYR2(NM_001035.3):c.7608T>C (p.A2536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947185" "0" "90" "1" "237947436" "237947436" "subst" "0" "02329" "RYR2_001502" "g.237947436G>A" "" "" "" "RYR2(NM_001035.3):c.12424G>A (p.A4142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947186" "0" "50" "1" "237951330" "237951330" "subst" "2.13296E-5" "02326" "RYR2_001503" "g.237951330G>T" "" "" "" "RYR2(NM_001035.3):c.13371G>T (p.K4457N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000953786" "0" "50" "1" "237660001" "237660001" "subst" "0" "03779" "RYR2_001504" "g.237660001G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000957723" "0" "70" "1" "237955507" "237955507" "subst" "0" "00006" "RYR2_001505" "g.237955507G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline" "" "" "0" "" "" "g.237792207G>C" "" "likely pathogenic" "" "0000957752" "0" "70" "1" "237801771" "237801771" "subst" "0" "00006" "RYR2_001506" "g.237801771A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237638471A>G" "" "likely pathogenic" "" "0000957759" "0" "50" "1" "237617756" "237617756" "subst" "3.66554E-5" "00006" "RYR2_000012" "g.237617756G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237454456G>C" "" "VUS" "" "0000957808" "0" "70" "1" "237863581" "237863581" "subst" "0" "00006" "RYR2_001507" "g.237863581C>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237700281C>G" "" "likely pathogenic" "" "0000957811" "0" "50" "1" "237778082" "237778082" "subst" "0.0155991" "00006" "RYR2_000298" "g.237778082G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237614782G>A" "" "VUS" "" "0000957871" "0" "70" "1" "237801771" "237801771" "subst" "0" "00006" "RYR2_001506" "g.237801771A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237638471A>G" "" "likely pathogenic" "" "0000957872" "0" "70" "1" "237801771" "237801771" "subst" "0" "00006" "RYR2_001506" "g.237801771A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237638471A>G" "" "likely pathogenic" "" "0000957903" "0" "70" "1" "237955507" "237955507" "subst" "0" "00006" "RYR2_001505" "g.237955507G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237792207G>C" "" "likely pathogenic" "" "0000957909" "0" "70" "1" "237886543" "237886543" "subst" "0" "00006" "RYR2_001508" "g.237886543T>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.237723243T>C" "" "likely pathogenic" "" "0000960924" "0" "50" "1" "237532895" "237532895" "subst" "0" "02327" "RYR2_001509" "g.237532895C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960925" "0" "30" "1" "237551394" "237551394" "subst" "8.13398E-5" "02326" "RYR2_001510" "g.237551394C>T" "" "" "" "RYR2(NM_001035.3):c.684C>T (p.L228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960926" "0" "50" "1" "237604772" "237604772" "subst" "8.90099E-6" "02330" "RYR2_001511" "g.237604772A>C" "" "" "" "RYR2(NM_001035.3):c.1159A>C (p.I387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960927" "0" "30" "1" "237617878" "237617878" "subst" "0.000147969" "02330" "RYR2_001134" "g.237617878C>T" "" "" "" "RYR2(NM_001035.2):c.1476+4C>T, RYR2(NM_001035.3):c.1476+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960928" "0" "10" "1" "237774112" "237774112" "subst" "0.00089685" "02326" "RYR2_001375" "g.237774112C>T" "" "" "" "RYR2(NM_001035.2):c.4734C>T (p.P1578=), RYR2(NM_001035.3):c.4734C>T (p.P1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960929" "0" "10" "1" "237774118" "237774118" "subst" "0.00332497" "02326" "RYR2_000897" "g.237774118G>A" "" "" "" "RYR2(NM_001035.3):c.4740G>A (p.P1580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960930" "0" "50" "1" "237774125" "237774125" "subst" "0.000102907" "02329" "RYR2_000784" "g.237774125C>T" "" "" "" "RYR2(NM_001035.2):c.4747C>T (p.P1583S), RYR2(NM_001035.3):c.4747C>T (p.P1583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960931" "0" "10" "1" "237791114" "237791114" "subst" "1.68076E-5" "02330" "RYR2_001512" "g.237791114G>A" "" "" "" "RYR2(NM_001035.3):c.6174G>A (p.L2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960932" "0" "50" "1" "237794822" "237794822" "subst" "0" "02330" "RYR2_001397" "g.237794822T>C" "" "" "" "RYR2(NM_001035.2):c.6536T>C (p.L2179P), RYR2(NM_001035.3):c.6536T>C (p.L2179P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960933" "0" "30" "1" "237801653" "237801653" "subst" "5.69027E-5" "02326" "RYR2_001513" "g.237801653G>A" "" "" "" "RYR2(NM_001035.3):c.6793-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960934" "0" "30" "1" "237868504" "237868504" "subst" "3.43926E-5" "02326" "RYR2_001514" "g.237868504C>T" "" "" "" "RYR2(NM_001035.3):c.9450-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960937" "0" "10" "1" "237886514" "237886514" "subst" "0.000484039" "02326" "RYR2_001002" "g.237886514G>A" "" "" "" "RYR2(NM_001035.2):c.10641G>A (p.T3547=), RYR2(NM_001035.3):c.10641G>A (p.T3547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960938" "0" "30" "1" "237919644" "237919644" "subst" "4.07266E-6" "02330" "RYR2_001515" "g.237919644T>A" "" "" "" "RYR2(NM_001035.3):c.11202T>A (p.R3734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960939" "0" "10" "1" "237951306" "237951306" "subst" "0" "02330" "RYR2_001516" "g.237951306A>G" "" "" "" "RYR2(NM_001035.3):c.13347A>G (p.K4449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960940" "0" "50" "1" "237961435" "237961435" "subst" "0" "02329" "RYR2_001479" "g.237961435G>T" "" "" "" "RYR2(NM_001035.3):c.14055G>T (p.K4685N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960941" "0" "30" "1" "237969420" "237969420" "subst" "0.000110296" "02326" "RYR2_001517" "g.237969420C>G" "" "" "" "RYR2(NM_001035.3):c.14152-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973794" "0" "30" "1" "237604757" "237604757" "subst" "7.12501E-5" "01804" "RYR2_000819" "g.237604757G>A" "" "" "" "RYR2(NM_001035.3):c.1144G>A (p.V382M, p.(Val382Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973795" "0" "30" "1" "237617790" "237617790" "subst" "5.29355E-5" "01804" "RYR2_001131" "g.237617790C>A" "" "" "" "RYR2(NM_001035.2):c.1392C>A (p.H464Q), RYR2(NM_001035.3):c.1392C>A (p.(His464Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973796" "0" "50" "1" "237666753" "237666753" "subst" "0" "01804" "RYR2_001518" "g.237666753C>T" "" "" "" "RYR2(NM_001035.3):c.2561C>T (p.(Thr854Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973797" "0" "50" "1" "237670001" "237670001" "subst" "0" "01804" "RYR2_001519" "g.237670001A>G" "" "" "" "RYR2(NM_001035.3):c.2614-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973798" "0" "50" "1" "237670113" "237670113" "subst" "3.66763E-5" "01804" "RYR2_000859" "g.237670113C>T" "" "" "" "RYR2(NM_001035.3):c.2717C>T (p.(Pro906Leu), p.P906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973799" "0" "50" "1" "237675054" "237675054" "subst" "0" "01804" "RYR2_001146" "g.237675054C>T" "" "" "" "RYR2(NM_001035.3):c.2785C>T (p.(Arg929Cys), p.R929C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973800" "0" "50" "1" "237711862" "237711862" "subst" "0.000450974" "01804" "RYR2_000013" "g.237711862G>A" "" "" "" "RYR2(NM_001035.2):c.3038G>A (p.R1013Q), RYR2(NM_001035.3):c.3038G>A (p.R1013Q, p.(Arg1013Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973801" "0" "30" "1" "237753971" "237753971" "subst" "1.90701E-5" "01804" "RYR2_001520" "g.237753971C>T" "" "" "" "RYR2(NM_001035.3):c.3839C>T (p.(Ser1280Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973802" "0" "50" "1" "237754299" "237754299" "subst" "7.15561E-5" "01804" "RYR2_000885" "g.237754299A>G" "" "" "" "RYR2(NM_001035.3):c.4160+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973803" "0" "30" "1" "237755119" "237755119" "subst" "5.70944E-5" "01804" "RYR2_001521" "g.237755119G>A" "" "" "" "RYR2(NM_001035.3):c.4241G>A (p.(Arg1414Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973804" "0" "50" "1" "237780625" "237780625" "subst" "4.08123E-6" "01804" "RYR2_001282" "g.237780625C>T" "" "" "" "RYR2(NM_001035.3):c.5755C>T (p.(Arg1919Trp), p.R1919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973805" "0" "30" "1" "237794779" "237794779" "subst" "0" "01804" "RYR2_001522" "g.237794779C>T" "" "" "" "RYR2(NM_001035.3):c.6493C>T (p.(Leu2165=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973806" "0" "50" "1" "237802338" "237802338" "subst" "8.12711E-6" "01804" "RYR2_000927" "g.237802338A>G" "" "" "" "RYR2(NM_001035.2):c.6952A>G (p.N2318D), RYR2(NM_001035.3):c.6952A>G (p.N2318D, p.(Asn2318Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973807" "0" "30" "1" "237813400" "237813400" "subst" "2.03661E-5" "02327" "RYR2_001523" "g.237813400G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973808" "0" "50" "1" "237821259" "237821259" "subst" "0.000138143" "01804" "RYR2_000948" "g.237821259G>T" "" "" "" "RYR2(NM_001035.2):c.8145G>T (p.E2715D), RYR2(NM_001035.3):c.8145G>T (p.E2715D, p.(Glu2715Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973809" "0" "50" "1" "237947244" "237947244" "subst" "1.638E-5" "01804" "RYR2_001524" "g.237947244C>A" "" "" "" "RYR2(NM_001035.3):c.12232C>A (p.(Leu4078Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973810" "0" "50" "1" "237947899" "237947899" "subst" "0" "01804" "RYR2_001525" "g.237947899A>C" "" "" "" "RYR2(NM_001035.3):c.12887A>C (p.(His4296Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973811" "0" "50" "1" "237947956" "237947956" "subst" "2.44302E-5" "01804" "RYR2_000713" "g.237947956G>A" "" "" "" "RYR2(NM_001035.3):c.12944G>A (p.G4315E, p.(Gly4315Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973812" "0" "30" "1" "237951278" "237951281" "del" "0" "01804" "RYR2_001526" "g.237951278_237951281del" "" "" "" "RYR2(NM_001035.3):c.13329-10_13329-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989337" "0" "50" "1" "237804301" "237804301" "subst" "0" "03779" "RYR2_001527" "g.237804301A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1197580766" "0" "" "" "" "" "VUS" "" "0000989409" "0" "50" "1" "237801726" "237801726" "subst" "4.06154E-6" "03779" "RYR2_001528" "g.237801726A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1228663009" "0" "" "" "" "" "VUS" "" "0000989641" "0" "50" "1" "237656353" "237656353" "subst" "8.15089E-6" "02515" "RYR2_001532" "g.237656353T>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs368918887" "0" "" "" "g.237493053T>A" "" "VUS" "" "0000989669" "0" "50" "1" "237755151" "237755151" "subst" "4.14333E-5" "02515" "RYR2_001535" "g.237755151A>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs776046135" "0" "" "" "g.237591851A>G" "" "VUS" "" "0000989758" "0" "70" "1" "237801664" "237801664" "subst" "2.84551E-5" "02515" "RYR2_000768" "g.237801664G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs759012078" "0" "" "" "g.237638364G>A" "642589" "likely pathogenic" "" "0000989759" "0" "50" "1" "237947253" "237947253" "subst" "2.86418E-5" "02515" "RYR2_001538" "g.237947253G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs763004638" "0" "" "" "g.237783953G>A" "" "VUS" "" "0000989760" "0" "50" "1" "237494227" "237494227" "subst" "0" "02515" "RYR2_001529" "g.237494227T>C" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.237330927T>C" "" "VUS" "" "0000989761" "0" "50" "1" "237670025" "237670025" "subst" "9.79872E-5" "02515" "RYR2_001351" "g.237670025C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs372575878" "0" "" "" "g.237506725C>T" "201231" "VUS" "" "0000989762" "0" "50" "1" "237675024" "237675024" "subst" "0.000265686" "02515" "RYR2_001533" "g.237675024G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs201079716" "0" "" "" "g.237511724G>A" "178117" "VUS" "" "0000989763" "0" "50" "1" "237753959" "237753959" "subst" "9.96592E-6" "02515" "RYR2_001275" "g.237753959C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs762899950" "0" "" "" "g.237590659C>T" "" "VUS" "" "0000989764" "0" "50" "1" "237754201" "237754201" "subst" "5.29614E-5" "02515" "RYR2_001534" "g.237754201G>C" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs193922626" "0" "" "" "g.237590901G>C" "" "VUS" "" "0000989765" "0" "50" "1" "237774207" "237774207" "subst" "1.63103E-5" "02515" "RYR2_001536" "g.237774207G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs764687833" "0" "" "" "g.237610907G>A" "" "VUS" "" "0000989766" "0" "50" "1" "237586457" "237586457" "subst" "0" "02515" "RYR2_001530" "g.237586457A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.237423157A>G" "" "VUS" "" "0000989810" "0" "50" "1" "237787081" "237787081" "subst" "3.26113E-5" "02515" "RYR2_001537" "g.237787081A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs773006920" "0" "" "" "g.237623781A>G" "" "VUS" "" "0000989813" "0" "70" "1" "237608725" "237608725" "subst" "0" "02515" "RYR2_001531" "g.237608725A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.237445425A>G" "" "likely pathogenic" "" "0000989826" "0" "50" "1" "237843828" "237843828" "subst" "8.41921E-6" "02515" "RYR2_000963" "g.237843828C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs746439954" "0" "" "" "g.237680528C>T" "" "VUS" "" "0000991006" "0" "50" "1" "237604767" "237604767" "subst" "1.6952E-5" "01804" "RYR2_001539" "g.237604767G>C" "" "" "" "RYR2(NM_001035.2):c.1154G>C (p.(Gly385Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991007" "0" "30" "1" "237608842" "237608842" "subst" "0" "02330" "RYR2_001540" "g.237608842C>G" "" "" "" "RYR2(NM_001035.3):c.1292+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991008" "0" "50" "1" "237617852" "237617852" "subst" "8.56339E-5" "01804" "RYR2_000830" "g.237617852G>A" "" "" "" "RYR2(NM_001035.2):c.1454G>A (p.R485Q, p.(Arg485Gln)), RYR2(NM_001035.3):c.1454G>A (p.R485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991010" "0" "50" "1" "237632393" "237632393" "subst" "4.07342E-6" "02330" "RYR2_001541" "g.237632393G>A" "" "" "" "RYR2(NM_001035.3):c.1614G>A (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991011" "0" "50" "1" "237656330" "237656330" "subst" "0" "01804" "RYR2_001542" "g.237656330A>G" "" "" "" "RYR2(NM_001035.2):c.1904A>G (p.(Asn635Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991012" "0" "50" "1" "237729917" "237729917" "subst" "4.0657E-6" "02330" "RYR2_001543" "g.237729917C>T" "" "" "" "RYR2(NM_001035.3):c.3265C>T (p.R1089C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991013" "0" "50" "1" "237729918" "237729918" "subst" "4.06554E-6" "01804" "RYR2_001273" "g.237729918G>A" "" "" "" "RYR2(NM_001035.2):c.3266G>A (p.(Arg1089His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991014" "0" "50" "1" "237774218" "237774218" "subst" "2.85249E-5" "01804" "RYR2_001544" "g.237774218C>T" "" "" "" "RYR2(NM_001035.2):c.4840C>T (p.(Arg1614Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991015" "0" "50" "1" "237777403" "237777403" "subst" "0" "02326" "RYR2_001545" "g.237777403C>T" "" "" "" "RYR2(NM_001035.3):c.4975C>T (p.R1659W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991016" "0" "50" "1" "237777805" "237777805" "subst" "0" "02326" "RYR2_001546" "g.237777805C>A" "" "" "" "RYR2(NM_001035.3):c.5377C>A (p.Q1793K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991017" "0" "30" "1" "237787175" "237787175" "subst" "8.55167E-5" "01804" "RYR2_001177" "g.237787175G>A" "" "" "" "RYR2(NM_001035.2):c.6022+5G>A (p.?), RYR2(NM_001035.3):c.6022+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991018" "0" "50" "1" "237791131" "237791131" "subst" "0" "02325" "RYR2_001547" "g.237791131A>G" "" "" "" "RYR2(NM_001035.3):c.6191A>G (p.E2064G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991019" "0" "50" "1" "237791170" "237791170" "subst" "1.22153E-5" "01804" "RYR2_001285" "g.237791170A>G" "" "" "" "RYR2(NM_001035.2):c.6230A>G (p.(Asp2077Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991020" "0" "10" "1" "237794849" "237794849" "subst" "0.000536826" "02330" "RYR2_000922" "g.237794849C>T" "" "" "" "RYR2(NM_001035.2):c.6555+8C>T, RYR2(NM_001035.3):c.6555+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991021" "0" "50" "1" "237814784" "237814784" "subst" "0" "02326" "RYR2_001548" "g.237814784G>A" "" "" "" "RYR2(NM_001035.3):c.7807G>A (p.A2603T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991022" "0" "50" "1" "237838116" "237838116" "subst" "0" "01804" "RYR2_001549" "g.237838116G>A" "" "" "" "RYR2(NM_001035.2):c.8800G>A (p.(Asp2934Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991023" "0" "50" "1" "237843828" "237843828" "subst" "8.41921E-6" "01804" "RYR2_000963" "g.237843828C>T" "" "" "" "RYR2(NM_001035.2):c.8968C>T (p.(Leu2990Phe)), RYR2(NM_001035.3):c.8968C>T (p.L2990F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991024" "0" "30" "1" "237875040" "237875040" "subst" "0.000527605" "01804" "RYR2_001217" "g.237875040C>T" "" "" "" "RYR2(NM_001035.2):c.10231-5C>T (p.?), RYR2(NM_001035.3):c.10231-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991025" "0" "50" "1" "237880501" "237880501" "subst" "0" "01804" "RYR2_000997" "g.237880501G>C" "" "" "" "RYR2(NM_001035.2):c.10327G>C (p.(Ala3443Pro)), RYR2(NM_001035.3):c.10327G>C (p.A3443P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991026" "0" "50" "1" "237905620" "237905620" "subst" "0" "01804" "RYR2_001550" "g.237905620G>A" "" "" "" "RYR2(NM_001035.2):c.11116G>A (p.(Asp3706Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991027" "0" "50" "1" "237944902" "237944902" "subst" "0" "02330" "RYR2_001551" "g.237944902A>T" "" "" "" "RYR2(NM_001035.3):c.11918A>T (p.D3973V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991028" "0" "70" "1" "237947338" "237947338" "subst" "0" "02330" "RYR2_001552" "g.237947338T>G" "" "" "" "RYR2(NM_001035.3):c.12326T>G (p.M4109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991029" "0" "30" "1" "237947688" "237947688" "subst" "4.07425E-6" "01804" "RYR2_001553" "g.237947688C>A" "" "" "" "RYR2(NM_001035.2):c.12676C>A (p.(Pro4226Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991030" "0" "30" "1" "237948067" "237948067" "subst" "0" "01804" "RYR2_001554" "g.237948067A>G" "" "" "" "RYR2(NM_001035.2):c.13055A>G (p.(Lys4352Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991031" "0" "30" "1" "237951370" "237951370" "subst" "0" "01804" "RYR2_001555" "g.237951370G>A" "" "" "" "RYR2(NM_001035.2):c.13411G>A (p.(Gly4471Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013296" "0" "10" "1" "237663995" "237663995" "subst" "0.000569231" "02330" "RYR2_000846" "g.237663995G>T" "" "" "" "RYR2(NM_001035.3):c.2204-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013297" "0" "30" "1" "237947621" "237947621" "subst" "0.000195316" "02330" "RYR2_001556" "g.237947621G>T" "" "" "" "RYR2(NM_001035.3):c.12609G>T (p.A4203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017850" "0" "70" "1" "237995892" "237995892" "subst" "0" "03779" "RYR2_001558" "g.237995892A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001017934" "0" "50" "1" "237801755" "237801755" "subst" "0" "03779" "RYR2_001557" "g.237801755A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs2148724346" "0" "" "" "" "" "VUS" "" "0001024134" "0" "30" "1" "237550619" "237550619" "subst" "0.000166591" "02326" "RYR2_001559" "g.237550619C>T" "" "" "" "RYR2(NM_001035.3):c.615C>T (p.A205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024135" "0" "50" "1" "237675024" "237675024" "subst" "0.000265686" "02326" "RYR2_001533" "g.237675024G>A" "" "" "" "RYR2(NM_001035.3):c.2755G>A (p.V919M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024136" "0" "50" "1" "237777871" "237777871" "subst" "1.62877E-5" "02326" "RYR2_001560" "g.237777871G>A" "" "" "" "RYR2(NM_001035.3):c.5443G>A (p.E1815K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024137" "0" "50" "1" "237780626" "237780626" "subst" "8.56458E-5" "02326" "RYR2_001283" "g.237780626G>A" "" "" "" "RYR2(NM_001035.3):c.5756G>A (p.R1919Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024138" "0" "50" "1" "237870309" "237870309" "subst" "1.62575E-5" "02327" "RYR2_001561" "g.237870309T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024139" "0" "30" "1" "237947180" "237947180" "subst" "0" "02326" "RYR2_001562" "g.237947180G>A" "" "" "" "RYR2(NM_001035.3):c.12168G>A (p.K4056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024140" "0" "50" "1" "237947956" "237947956" "subst" "2.44302E-5" "02330" "RYR2_000713" "g.237947956G>A" "" "" "" "RYR2(NM_001035.3):c.12944G>A (p.G4315E, p.(Gly4315Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024141" "0" "90" "1" "237969446" "237969446" "subst" "0" "02329" "RYR2_001563" "g.237969446T>C" "" "" "" "RYR2(NM_001035.3):c.14161T>C (p.Y4721H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031857" "0" "50" "1" "237586447" "237586447" "subst" "4.06759E-6" "02327" "RYR2_001564" "g.237586447A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031858" "0" "10" "1" "237655173" "237655173" "subst" "0.0201305" "01804" "RYR2_000838" "g.237655173A>T" "" "" "" "RYR2(NM_001035.3):c.1776A>T (p.G592=, p.(Gly592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031859" "0" "50" "1" "237656353" "237656353" "subst" "8.15089E-6" "01804" "RYR2_001532" "g.237656353T>A" "" "" "" "RYR2(NM_001035.3):c.1927T>A (p.(Leu643Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031860" "0" "50" "1" "237670081" "237670081" "subst" "0" "01804" "RYR2_001565" "g.237670081G>A" "" "" "" "RYR2(NM_001035.3):c.2685G>A (p.(Met895Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031861" "0" "30" "1" "237713928" "237713928" "subst" "9.72517E-5" "01804" "RYR2_000024" "g.237713928C>T" "" "" "" "RYR2(NM_001035.3):c.3151C>T (p.R1051C, p.(Arg1051Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031862" "0" "30" "1" "237732558" "237732558" "subst" "0.000877913" "01804" "RYR2_001437" "g.237732558T>C" "" "" "" "RYR2(NM_001035.3):c.3537T>C (p.(Gly1179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031863" "0" "50" "1" "237765394" "237765394" "subst" "0" "01804" "RYR2_001566" "g.237765394G>C" "" "" "" "RYR2(NM_001035.3):c.4666G>C (p.(Glu1556Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031864" "0" "50" "1" "237780621" "237780621" "subst" "0" "01804" "RYR2_001567" "g.237780621G>T" "" "" "" "RYR2(NM_001035.3):c.5751G>T (p.(Gln1917His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031865" "0" "30" "1" "237780644" "237780644" "subst" "3.25627E-5" "01804" "RYR2_001568" "g.237780644T>C" "" "" "" "RYR2(NM_001035.3):c.5774T>C (p.(Ile1925Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031866" "0" "30" "1" "237780692" "237780692" "subst" "3.25359E-5" "01804" "RYR2_001360" "g.237780692G>A" "" "" "" "RYR2(NM_001035.3):c.5822G>A (p.(Arg1941His), p.R1941H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031867" "0" "70" "1" "237794818" "237794818" "subst" "0" "01804" "RYR2_000921" "g.237794818G>A" "" "" "" "RYR2(NM_001035.3):c.6532G>A (p.V2178I, p.(Val2178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031868" "0" "50" "1" "237801787" "237801787" "subst" "0" "01804" "RYR2_001569" "g.237801787G>A" "" "" "" "RYR2(NM_001035.3):c.6923G>A (p.(Cys2308Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031869" "0" "30" "1" "237838114" "237838114" "subst" "0.000150693" "01804" "RYR2_001570" "g.237838114T>G" "" "" "" "RYR2(NM_001035.3):c.8798T>G (p.(Val2933Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031870" "0" "50" "1" "237863770" "237863770" "subst" "1.1107E-5" "01804" "RYR2_001571" "g.237863770A>G" "" "" "" "RYR2(NM_001035.3):c.9367+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031871" "0" "50" "1" "237880616" "237880616" "subst" "0" "02327" "RYR2_001572" "g.237880616G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031872" "0" "50" "1" "237890422" "237890422" "subst" "0" "01804" "RYR2_001573" "g.237890422G>C" "" "" "" "RYR2(NM_001035.3):c.10761G>C (p.(Trp3587Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031873" "0" "50" "1" "237893654" "237893654" "subst" "0" "02325" "RYR2_001574" "g.237893654G>A" "" "" "" "RYR2(NM_001035.3):c.10933G>A (p.A3645T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031874" "0" "10" "1" "237982386" "237982386" "subst" "0.000170611" "02330" "RYR2_001096" "g.237982386G>T" "" "" "" "RYR2(NM_001035.2):c.14484G>T (p.G4828=), RYR2(NM_001035.3):c.14484G>T (p.G4828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045666" "0" "10" "1" "237666821" "237666821" "subst" "0.000240649" "02326" "RYR2_001392" "g.237666821C>T" "" "" "" "RYR2(NM_001035.3):c.2613+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045667" "0" "50" "1" "237753290" "237753290" "subst" "0" "02327" "RYR2_001575" "g.237753290G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045668" "0" "50" "1" "237791209" "237791209" "subst" "4.0627E-6" "02327" "RYR2_001576" "g.237791209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045669" "0" "70" "1" "237947427" "237947427" "subst" "0" "02327" "RYR2_001577" "g.237947427A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046973" "0" "70" "1" "237969540" "237969540" "subst" "0" "03779" "RYR2_001578" "g.237969540C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001047022" "0" "70" "1" "237540728" "237540728" "subst" "0" "03779" "RYR2_001579" "g.237540728G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001047263" "0" "50" "1" "237824177" "237824177" "subst" "0" "03779" "RYR2_000951" "g.237824177T>C" "" "" "" "" "" "Unknown" "" "rs1419719746" "0" "" "" "" "" "VUS" "" "0001048132" "0" "50" "1" "237617852" "237617852" "subst" "8.56339E-5" "03779" "RYR2_000830" "g.237617852G>A" "" "" "" "" "" "Unknown" "" "rs752144775" "0" "" "" "" "" "VUS" "" "0001049371" "0" "50" "1" "237993842" "237993842" "subst" "4.0623E-6" "03779" "RYR2_001580" "g.237993842A>G" "" "" "" "" "" "Unknown" "" "rs530324741" "0" "" "" "" "" "VUS" "" "0001050487" "0" "50" "1" "237617794" "237617794" "subst" "9.3636E-5" "01804" "RYR2_000109" "g.237617794C>G" "" "" "" "RYR2(NM_001035.3):c.1396C>G (p.(Pro466Ala), p.P466A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050488" "0" "50" "1" "237666801" "237666801" "subst" "0" "01804" "RYR2_001581" "g.237666801G>T" "" "" "" "RYR2(NM_001035.3):c.2609G>T (p.(Ser870Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050489" "0" "50" "1" "237675033" "237675033" "subst" "0" "01804" "RYR2_001582" "g.237675033T>A" "" "" "" "RYR2(NM_001035.3):c.2764T>A (p.(Ser922Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050490" "0" "50" "1" "237753221" "237753221" "subst" "0" "01804" "RYR2_001583" "g.237753221A>C" "" "" "" "RYR2(NM_001035.3):c.3727A>C (p.(Thr1243Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050491" "0" "30" "1" "237754208" "237754208" "subst" "1.62959E-5" "01804" "RYR2_001160" "g.237754208T>C" "" "" "" "RYR2(NM_001035.2):c.4076T>C (p.V1359A), RYR2(NM_001035.3):c.4076T>C (p.V1359A, p.(Val1359Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050492" "0" "30" "1" "237755076" "237755076" "subst" "0.0167403" "01804" "RYR2_000886" "g.237755076A>G" "" "" "" "RYR2(NM_001035.2):c.4198A>G (p.S1400G), RYR2(NM_001035.3):c.4198A>G (p.S1400G, p.(Ser1400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050493" "0" "30" "1" "237811766" "237811766" "subst" "0.00401341" "01804" "RYR2_000937" "g.237811766C>T" "" "" "" "RYR2(NM_001035.2):c.7365C>T (p.D2455=), RYR2(NM_001035.3):c.7365C>T (p.D2455=, p.(Asp2455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050494" "0" "50" "1" "237881784" "237881784" "subst" "2.85598E-5" "01804" "RYR2_001000" "g.237881784G>A" "" "" "" "RYR2(NM_001035.3):c.10517G>A (p.(Arg3506Gln), p.R3506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050495" "0" "50" "1" "237947415" "237947415" "subst" "4.06971E-6" "01804" "RYR2_001584" "g.237947415C>T" "" "" "" "RYR2(NM_001035.3):c.12403C>T (p.(Arg4135Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050496" "0" "30" "1" "237961363" "237961363" "subst" "0.00224573" "01804" "RYR2_001079" "g.237961363C>T" "" "" "" "RYR2(NM_001035.2):c.13983C>T (p.Y4661=), RYR2(NM_001035.3):c.13983C>T (p.Y4661=, p.(Tyr4661=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050497" "0" "70" "1" "237991696" "237991696" "subst" "0" "01804" "RYR2_001585" "g.237991696C>A" "" "" "" "RYR2(NM_001035.3):c.14606C>A (p.(Ala4869Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001059331" "0" "90" "1" "237919642" "237919642" "subst" "0" "03779" "RYR2_001586" "g.237919642C>T" "" "" "" "" "" "Unknown" "" "rs1060500150" "0" "" "" "" "" "pathogenic" "" "0001059482" "0" "90" "1" "237949299" "237949299" "subst" "0.000235265" "00006" "RYR2_000714" "g.237949299G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Unknown" "" "" "0" "" "" "g.237785999G>A" "" "pathogenic" "" ## 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 RYR2 ## Count = 1591 "{{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}}" "0000036031" "00018334" "55" "6555" "17" "6555" "17" "c.6555+17C>T" "r.(?)" "p.(=)" "?" "0000036032" "00018334" "55" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "?" "0000052362" "00018334" "50" "3803" "0" "3803" "0" "c.3803T>C" "r.(?)" "p.(Ile1268Thr)" "30" "0000052375" "00018334" "50" "5056" "0" "5056" "0" "c.5056C>T" "r.(?)" "p.(Leu1686Phe)" "37" "0000071826" "00018334" "70" "7099" "0" "7099" "0" "c.7099G>A" "r.(?)" "p.(Gly2367Arg)" "" "0000071829" "00018334" "70" "10742" "0" "10742" "0" "c.10742G>A" "r.(?)" "p.(Arg3581Lys)" "" "0000071835" "00018334" "70" "5614" "0" "5614" "0" "c.5614G>A" "r.(?)" "p.(Asp1872Asn)" "" "0000088999" "00018334" "50" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000095311" "00018334" "50" "8274" "0" "8274" "0" "c.8274G>T" "r.(?)" "p.(Lys2758Asn)" "55" "0000095324" "00018334" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "26" "0000095418" "00018334" "50" "5102" "0" "5102" "0" "c.5102G>C" "r.(?)" "p.(Gly1701Ala)" "37" "0000095470" "00018334" "50" "9455" "0" "9455" "0" "c.9455G>T" "r.(?)" "p.(Arg3152Leu)" "67" "0000095500" "00018334" "50" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694*)" "20" "0000095504" "00018334" "50" "5917" "-1" "5917" "-1" "c.5917-1G>C" "r.spl" "p.?" "38i" "0000095509" "00018334" "50" "2203" "5" "2203" "5" "c.2203+5G>A" "r.spl?" "p.(?)" "20i" "0000095648" "00018334" "50" "3037" "0" "3037" "0" "c.3037C>T" "r.(?)" "p.(Arg1013Trp)" "26" "0000095659" "00018334" "50" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.(?)" "71i" "0000095660" "00018334" "50" "10681" "0" "10681" "0" "c.10681C>G" "r.(?)" "p.(Leu3561Val)" "74" "0000095678" "00018334" "50" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.(?)" "71i" "0000095745" "00018334" "50" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051Cys)" "27" "0000095746" "00018334" "50" "6450" "0" "6450" "0" "c.6450G>A" "r.(?)" "p.(Met2150Ile)" "42" "0000096477" "00018334" "70" "1358" "0" "1358" "0" "c.1358G>C" "r.(?)" "p.(Ser453Thr)" "15" "0000096482" "00018334" "50" "10046" "0" "10046" "0" "c.10046C>T" "r.(?)" "p.(Ser3349Leu)" "69" "0000096501" "00018334" "70" "12430" "0" "12430" "0" "c.12430C>A" "r.(?)" "p.(Arg4144Ser)" "90" "0000096503" "00018334" "70" "13931" "0" "13931" "0" "c.13931A>G" "r.(?)" "p.(Tyr4644Cys)" "96" "0000096979" "00018334" "70" "2907" "-1" "2907" "-1" "c.2907-1G>C" "r.spl" "p.?" "25i" "0000165050" "00018334" "90" "" "0" "" "0" "c.1.1kb deletion" "r.(?)" "p.(?)" "" "0000165051" "00018334" "90" "" "0" "" "0" "c.1.1kb deletion" "r.(?)" "p.(?)" "" "0000165052" "00018334" "90" "" "0" "" "0" "c.3.6kb deletion" "r.(?)" "p.(?)" "" "0000165053" "00018334" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(?)" "0" "0000165054" "00018334" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(?)" "0" "0000165055" "00018334" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(?)" "0" "0000165056" "00018334" "90" "241" "0" "241" "0" "c.241A>C" "r.(?)" "p.(?)" "0" "0000165057" "00018334" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(?)" "0" "0000165058" "00018334" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(?)" "0" "0000165059" "00018334" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(?)" "0" "0000165060" "00018334" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(?)" "0" "0000165061" "00018334" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(?)" "0" "0000165062" "00018334" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(?)" "0" "0000165063" "00018334" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(?)" "0" "0000165064" "00018334" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(?)" "0" "0000165065" "00018334" "90" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(?)" "0" "0000165066" "00018334" "90" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(?)" "0" "0000165067" "00018334" "90" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(?)" "0" "0000165068" "00018334" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(?)" "0" "0000165069" "00018334" "90" "567" "0" "567" "0" "c.567A>T" "r.(?)" "p.(?)" "0" "0000165070" "00018334" "90" "567" "0" "567" "0" "c.567A>T" "r.(?)" "p.(?)" "0" "0000165071" "00018334" "90" "567" "0" "567" "0" "c.567A>T" "r.(?)" "p.(?)" "0" "0000165072" "00018334" "90" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(?)" "0" "0000165073" "00018334" "90" "985" "0" "985" "0" "c.985T>C" "r.(?)" "p.(?)" "0" "0000165074" "00018334" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(?)" "0" "0000165075" "00018334" "10" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(?)" "0" "0000165076" "00018334" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(?)" "0" "0000165077" "00018334" "90" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(?)" "0" "0000165078" "00018334" "90" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(?)" "0" "0000165079" "00018334" "90" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(?)" "0" "0000165080" "00018334" "90" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(?)" "0" "0000165081" "00018334" "90" "1244" "0" "1244" "0" "c.1244C>G" "r.(?)" "p.(?)" "0" "0000165082" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165083" "00018334" "90" "1255" "0" "1255" "0" "c.1255A>T" "r.(?)" "p.(?)" "0" "0000165084" "00018334" "90" "1255" "0" "1255" "0" "c.1255A>T" "r.(?)" "p.(?)" "0" "0000165085" "00018334" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(?)" "0" "0000165086" "00018334" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(?)" "0" "0000165087" "00018334" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(?)" "0" "0000165088" "00018334" "90" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(?)" "0" "0000165089" "00018334" "90" "1298" "0" "1298" "0" "c.1298T>C" "r.(?)" "p.(?)" "0" "0000165090" "00018334" "90" "1396" "0" "1396" "0" "c.1396C>G" "r.(?)" "p.(?)" "0" "0000165091" "00018334" "10" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(?)" "0" "0000165092" "00018334" "90" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(?)" "0" "0000165093" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165094" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165095" "00018334" "90" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(?)" "0" "0000165096" "00018334" "90" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(?)" "0" "0000165097" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165098" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165099" "00018334" "10" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(?)" "0" "0000165100" "00018334" "90" "3320" "0" "3320" "0" "c.3320C>T" "r.(?)" "p.(?)" "0" "0000165101" "00018334" "90" "5169" "0" "5169" "0" "c.5169G>A" "r.(?)" "p.(?)" "0" "0000165102" "00018334" "90" "5170" "0" "5170" "0" "c.5170G>A" "r.(?)" "p.(?)" "0" "0000165103" "00018334" "90" "5170" "0" "5170" "0" "c.5170G>A" "r.(?)" "p.(?)" "0" "0000165104" "00018334" "90" "5509" "0" "5509" "0" "c.5509G>A" "r.(?)" "p.(?)" "0" "0000165105" "00018334" "90" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(?)" "0" "0000165106" "00018334" "90" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(?)" "0" "0000165107" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165108" "00018334" "90" "6137" "0" "6137" "0" "c.6137A>G" "r.(?)" "p.(?)" "0" "0000165109" "00018334" "90" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(?)" "0" "0000165110" "00018334" "90" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(?)" "0" "0000165111" "00018334" "90" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(?)" "0" "0000165112" "00018334" "90" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(?)" "0" "0000165113" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165114" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165115" "00018334" "10" "6467" "0" "6467" "0" "c.6467A>G" "r.(?)" "p.(?)" "0" "0000165116" "00018334" "90" "6504" "0" "6504" "0" "c.6504C>G" "r.(?)" "p.(?)" "0" "0000165117" "00018334" "10" "6548" "0" "6548" "0" "c.6548A>T" "r.(?)" "p.(?)" "0" "0000165118" "00018334" "90" "6647" "0" "6647" "0" "c.6647A>T" "r.(?)" "p.(?)" "0" "0000165119" "00018334" "90" "6737" "0" "6737" "0" "c.6737C>T" "r.(?)" "p.(?)" "0" "0000165120" "00018334" "90" "6737" "0" "6737" "0" "c.6737C>T" "r.(?)" "p.(?)" "0" "0000165121" "00018334" "90" "6740" "0" "6740" "0" "c.6740C>T" "r.(?)" "p.(?)" "0" "0000165122" "00018334" "90" "6740" "0" "6740" "0" "c.6740C>T" "r.(?)" "p.(?)" "0" "0000165123" "00018334" "90" "6761" "0" "6761" "0" "c.6761C>T" "r.(?)" "p.(?)" "0" "0000165124" "00018334" "90" "6800" "0" "6800" "0" "c.6800G>A" "r.(?)" "p.(?)" "0" "0000165125" "00018334" "90" "6800" "0" "6800" "0" "c.6800G>A" "r.(?)" "p.(?)" "0" "0000165126" "00018334" "90" "6886" "0" "6886" "0" "c.6886G>C" "r.(?)" "p.(?)" "0" "0000165127" "00018334" "90" "6916" "0" "6916" "0" "c.6916G>A" "r.(?)" "p.(?)" "0" "0000165128" "00018334" "90" "6919" "0" "6919" "0" "c.6919T>C" "r.(?)" "p.(?)" "0" "0000165129" "00018334" "90" "6919" "0" "6919" "0" "c.6919T>C" "r.(?)" "p.(?)" "0" "0000165130" "00018334" "90" "6933" "0" "6933" "0" "c.6933G>A" "r.(?)" "p.(?)" "0" "0000165131" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165132" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165133" "00018334" "90" "6982" "0" "6982" "0" "c.6982C>T" "r.(?)" "p.(?)" "0" "0000165134" "00018334" "90" "6992" "0" "6992" "0" "c.6992T>C" "r.(?)" "p.(?)" "0" "0000165135" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165136" "00018334" "90" "7076" "0" "7076" "0" "c.7076G>A" "r.(?)" "p.(?)" "0" "0000165137" "00018334" "90" "7157" "0" "7157" "0" "c.7157A>T" "r.(?)" "p.(?)" "0" "0000165138" "00018334" "90" "7158" "0" "7158" "0" "c.7158G>A" "r.(?)" "p.(?)" "0" "0000165139" "00018334" "90" "7158" "0" "7158" "0" "c.7158G>C" "r.(?)" "p.(?)" "0" "0000165140" "00018334" "10" "7165" "0" "7165" "0" "c.7165A>C" "r.(?)" "p.(?)" "0" "0000165141" "00018334" "10" "7165" "0" "7165" "0" "c.7165A>C" "r.(?)" "p.(?)" "0" "0000165142" "00018334" "90" "7175" "0" "7175" "0" "c.7175A>G" "r.(?)" "p.(?)" "0" "0000165143" "00018334" "90" "7181" "0" "7181" "0" "c.7181C>G" "r.(?)" "p.(?)" "0" "0000165144" "00018334" "90" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(?)" "0" "0000165145" "00018334" "90" "7272" "0" "7272" "0" "c.7272G>T" "r.(?)" "p.(?)" "0" "0000165146" "00018334" "90" "7207" "0" "7207" "0" "c.7207G>A" "r.(?)" "p.(?)" "0" "0000165147" "00018334" "90" "7207" "0" "7207" "0" "c.7207G>A" "r.(?)" "p.(?)" "0" "0000165148" "00018334" "90" "7210" "0" "7210" "0" "c.7210C>A" "r.(?)" "p.(?)" "0" "0000165149" "00018334" "90" "7210" "0" "7210" "0" "c.7210C>A" "r.(?)" "p.(?)" "0" "0000165150" "00018334" "90" "7422" "0" "7422" "0" "c.7422G>C" "r.(?)" "p.(?)" "0" "0000165151" "00018334" "90" "7258" "0" "7258" "0" "c.7258A>T" "r.(?)" "p.(?)" "0" "0000165152" "00018334" "90" "7423" "0" "7423" "0" "c.7423G>T" "r.(?)" "p.(?)" "0" "0000165153" "00018334" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165154" "00018334" "90" "7511" "0" "7511" "0" "c.7511C>T" "r.(?)" "p.(?)" "0" "0000165155" "00018334" "90" "7528" "0" "7528" "0" "c.7528T>C" "r.(?)" "p.(?)" "0" "0000165156" "00018334" "90" "7528" "0" "7528" "0" "c.7528T>C" "r.(?)" "p.(?)" "0" "0000165157" "00018334" "90" "7599" "0" "7599" "0" "c.7599C>G" "r.(?)" "p.(?)" "0" "0000165158" "00018334" "90" "8874" "0" "8874" "0" "c.8874A>G" "r.(?)" "p.(?)" "0" "0000165159" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165160" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165161" "00018334" "90" "11332" "0" "11332" "0" "c.11332C>T" "r.(?)" "p.(?)" "0" "0000165162" "00018334" "90" "11399" "0" "11399" "0" "c.11399G>T" "r.(?)" "p.(?)" "0" "0000165163" "00018334" "90" "11636" "0" "11636" "0" "c.11636C>C" "r.(?)" "p.(?)" "0" "0000165164" "00018334" "90" "11636" "0" "11636" "0" "c.11636C>C" "r.(?)" "p.(?)" "0" "0000165165" "00018334" "90" "11773" "0" "11773" "0" "c.11773C>G" "r.(?)" "p.(?)" "0" "0000165166" "00018334" "90" "11773" "0" "11773" "0" "c.11773C>G" "r.(?)" "p.(?)" "0" "0000165167" "00018334" "90" "11814" "0" "11814" "0" "c.11814C>A" "r.(?)" "p.(?)" "0" "0000165168" "00018334" "90" "11836" "0" "11836" "0" "c.11836G>A" "r.(?)" "p.(?)" "0" "0000165169" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165170" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165171" "00018334" "90" "11876" "0" "11876" "0" "c.11876C>T" "r.(?)" "p.(?)" "0" "0000165172" "00018334" "90" "11876" "0" "11876" "0" "c.11876C>T" "r.(?)" "p.(?)" "0" "0000165173" "00018334" "90" "11916" "0" "11916" "0" "c.11916G>T" "r.(?)" "p.(?)" "0" "0000165174" "00018334" "90" "11917" "0" "11917" "0" "c.11917G>C" "r.(?)" "p.(?)" "0" "0000165175" "00018334" "90" "11921" "0" "11921" "0" "c.11921T>A" "r.(?)" "p.(?)" "0" "0000165176" "00018334" "90" "11989" "0" "11989" "0" "c.11989A>G" "r.(?)" "p.(?)" "0" "0000165177" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165178" "00018334" "90" "12226" "0" "12226" "0" "c.12226A>G" "r.(?)" "p.(?)" "0" "0000165179" "00018334" "90" "12028" "0" "12028" "0" "c.12028G>A" "r.(?)" "p.(?)" "0" "0000165180" "00018334" "90" "12028" "0" "12028" "0" "c.12028G>A" "r.(?)" "p.(?)" "0" "0000165181" "00018334" "90" "12290" "0" "12290" "0" "c.12290A>G" "r.(?)" "p.(?)" "0" "0000165182" "00018334" "90" "12312" "0" "12312" "0" "c.12312C>G" "r.(?)" "p.(?)" "0" "0000165183" "00018334" "90" "12311" "0" "12311" "0" "c.12311A>T" "r.(?)" "p.(?)" "0" "0000165184" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165185" "00018334" "90" "12322" "0" "12322" "0" "c.12322C>A" "r.(?)" "p.(?)" "0" "0000165186" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165187" "00018334" "90" "12370" "0" "12370" "0" "c.12370A>G" "r.(?)" "p.(?)" "0" "0000165188" "00018334" "90" "12371" "0" "12371" "0" "c.12371G>C" "r.(?)" "p.(?)" "0" "0000165189" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165190" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165191" "00018334" "90" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(?)" "0" "0000165192" "00018334" "90" "12446" "0" "12446" "0" "c.12446A>G" "r.(?)" "p.(?)" "0" "0000165193" "00018334" "90" "12470" "0" "12470" "0" "c.12470G>A" "r.(?)" "p.(?)" "0" "0000165194" "00018334" "90" "12472" "0" "12472" "0" "c.12472A>C" "r.(?)" "p.(?)" "0" "0000165195" "00018334" "90" "12476" "0" "12476" "0" "c.12476A>G" "r.(?)" "p.(?)" "0" "0000165196" "00018334" "90" "12533" "0" "12533" "0" "c.12533A>G" "r.(?)" "p.(?)" "0" "0000165197" "00018334" "90" "12559" "0" "12559" "0" "c.12559G>C" "r.(?)" "p.(?)" "0" "0000165198" "00018334" "90" "12586" "0" "12586" "0" "c.12586A>G" "r.(?)" "p.(?)" "0" "0000165199" "00018334" "90" "12601" "0" "12601" "0" "c.12601C>A" "r.(?)" "p.(?)" "0" "0000165200" "00018334" "10" "12845" "0" "12845" "0" "c.12845C>T" "r.(?)" "p.(?)" "0" "0000165201" "00018334" "10" "12845" "0" "12845" "0" "c.12845C>T" "r.(?)" "p.(?)" "0" "0000165202" "00018334" "10" "12919" "0" "12919" "0" "c.12919C>T" "r.(?)" "p.(?)" "0" "0000165203" "00018334" "10" "12919" "0" "12919" "0" "c.12919C>T" "r.(?)" "p.(?)" "0" "0000165204" "00018334" "10" "12944" "0" "12944" "0" "c.12944G>A" "r.(?)" "p.(?)" "0" "0000165205" "00018334" "90" "13291" "0" "13291" "0" "c.13291G>A" "r.(?)" "p.(?)" "0" "0000165206" "00018334" "90" "13291" "0" "13291" "0" "c.13291G>A" "r.(?)" "p.(?)" "0" "0000165207" "00018334" "90" "13489" "0" "13489" "0" "c.13489C>T" "r.(?)" "p.(?)" "0" "0000165208" "00018334" "90" "13489" "0" "13489" "0" "c.13489C>T" "r.(?)" "p.(?)" "0" "0000165209" "00018334" "90" "13496" "0" "13496" "0" "c.13496T>G" "r.(?)" "p.(?)" "0" "0000165210" "00018334" "90" "13496" "0" "13496" "0" "c.13496T>G" "r.(?)" "p.(?)" "0" "0000165211" "00018334" "90" "13512" "0" "13512" "0" "c.13512G>A" "r.(?)" "p.(?)" "0" "0000165212" "00018334" "90" "13528" "0" "13528" "0" "c.13528A>G" "r.(?)" "p.(?)" "0" "0000165213" "00018334" "90" "13528" "0" "13528" "0" "c.13528A>G" "r.(?)" "p.(?)" "0" "0000165214" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165215" "00018334" "90" "13666" "0" "13666" "0" "c.13666G>A" "r.(?)" "p.(?)" "0" "0000165216" "00018334" "90" "13695" "0" "13695" "0" "c.13695C>A" "r.(?)" "p.(?)" "0" "0000165217" "00018334" "90" "13695" "0" "13695" "0" "c.13695C>A" "r.(?)" "p.(?)" "0" "0000165218" "00018334" "90" "13957" "0" "13957" "0" "c.13957G>T" "r.(?)" "p.(?)" "0" "0000165219" "00018334" "90" "13819" "0" "13819" "0" "c.13819G>C" "r.(?)" "p.(?)" "0" "0000165220" "00018334" "90" "13831" "0" "13831" "0" "c.13831G>A" "r.(?)" "p.(?)" "0" "0000165221" "00018334" "90" "13831" "0" "13831" "0" "c.13831G>A" "r.(?)" "p.(?)" "0" "0000165222" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165223" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165224" "00018334" "90" "13948" "0" "13948" "0" "c.13948A>G" "r.(?)" "p.(?)" "0" "0000165225" "00018334" "90" "13967" "0" "13972" "0" "c.13967_13972dup" "r.(?)" "p.(?)" "0" "0000165226" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165227" "00018334" "90" "14010" "0" "14010" "0" "c.14010G>C" "r.(?)" "p.(?)" "0" "0000165228" "00018334" "90" "14011" "0" "14011" "0" "c.14011G>C" "r.(?)" "p.(?)" "0" "0000165229" "00018334" "90" "14205" "0" "14208" "0" "c.14205_14208del" "r.(?)" "p.(?)" "0" "0000165230" "00018334" "90" "14285" "0" "14285" "0" "c.14285A>C" "r.(?)" "p.(?)" "0" "0000165231" "00018334" "90" "14311" "0" "14311" "0" "c.14311G>A" "r.(?)" "p.(?)" "0" "0000165232" "00018334" "90" "14369" "0" "14369" "0" "c.14369G>A" "r.(?)" "p.(?)" "0" "0000165233" "00018334" "90" "14414" "0" "14414" "0" "c.14414A>G" "r.(?)" "p.(?)" "0" "0000165234" "00018334" "90" "14465" "0" "14465" "0" "c.14465G>A" "r.(?)" "p.(?)" "0" "0000165235" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165236" "00018334" "90" "14542" "0" "14542" "0" "c.14542A>G" "r.(?)" "p.(?)" "0" "0000165237" "00018334" "90" "14542" "0" "14542" "0" "c.14542A>G" "r.(?)" "p.(?)" "0" "0000165238" "00018334" "90" "14552" "0" "14552" "0" "c.14552T>G" "r.(?)" "p.(?)" "0" "0000165239" "00018334" "90" "14579" "0" "14579" "0" "c.14579C>G" "r.(?)" "p.(?)" "0" "0000165240" "00018334" "90" "14601" "0" "14601" "0" "c.14601T>G" "r.(?)" "p.(?)" "0" "0000165241" "00018334" "90" "14639" "0" "14639" "0" "c.14639T>C" "r.(?)" "p.(?)" "0" "0000165242" "00018334" "90" "14683" "0" "14683" "0" "c.14683A>G" "r.(?)" "p.(?)" "0" "0000165243" "00018334" "90" "14705" "0" "14705" "0" "c.14705C>T" "r.(?)" "p.(?)" "0" "0000165244" "00018334" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000165245" "00018334" "90" "14806" "0" "14806" "0" "c.14806G>A" "r.(?)" "p.(?)" "0" "0000165246" "00018334" "90" "14806" "0" "14806" "0" "c.14806G>A" "r.(?)" "p.(?)" "0" "0000165247" "00018334" "90" "14848" "0" "14848" "0" "c.14848G>A" "r.(?)" "p.(?)" "0" "0000165248" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(?)" "0" "0000165249" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(?)" "0" "0000165250" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(?)" "0" "0000168854" "00018334" "50" "12490" "0" "12490" "0" "c.12490C>G" "r.(?)" "p.(Gln4164Glu)" "90" "0000168856" "00018334" "50" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "28" "0000168862" "00018334" "50" "11441" "0" "11441" "0" "c.11441C>T" "r.(?)" "p.(Ala3814Val)" "84" "0000217959" "00018334" "50" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(Val2113Met)" "" "0000217974" "00018334" "50" "13901" "0" "13901" "0" "c.13901T>C" "r.(?)" "p.(Val4634Ala)" "" "0000218375" "00018334" "50" "1721" "0" "1721" "0" "c.1721T>G" "r.(?)" "p.(Val574Gly)" "" "0000218398" "00018334" "50" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Arg1009Trp)" "" "0000218404" "00018334" "50" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000218406" "00018334" "50" "11497" "0" "11497" "0" "c.11497G>A" "r.(?)" "p.(Asp3833Asn)" "" "0000218412" "00018334" "50" "11218" "0" "11218" "0" "c.11218G>T" "r.(?)" "p.(Val3740Leu)" "" "0000218418" "00018334" "50" "9851" "0" "9851" "0" "c.9851T>C" "r.(?)" "p.(Ile3284Thr)" "" "0000218432" "00018334" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000218436" "00018334" "50" "7115" "0" "7115" "0" "c.7115T>C" "r.(?)" "p.(Leu2372Pro)" "" "0000218466" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000218494" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000218500" "00018334" "50" "8414" "0" "8414" "0" "c.8414G>A" "r.(?)" "p.(Arg2805His)" "" "0000245383" "00018334" "10" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000245384" "00018334" "10" "14299" "-12" "14299" "-12" "c.14299-12A>G" "r.(=)" "p.(=)" "" "0000245386" "00018334" "10" "13260" "14" "13260" "14" "c.13260+14A>G" "r.(=)" "p.(=)" "" "0000245393" "00018334" "10" "7342" "16" "7342" "16" "c.7342+16A>G" "r.(=)" "p.(=)" "" "0000245394" "00018334" "10" "10143" "-18" "10143" "-18" "c.10143-18A>G" "r.(=)" "p.(=)" "" "0000245396" "00018334" "10" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.?" "" "0000245397" "00018334" "10" "5619" "0" "5619" "0" "c.5619A>G" "r.(?)" "p.(Ala1873=)" "" "0000245404" "00018334" "10" "14757" "-19" "14757" "-19" "c.14757-19A>G" "r.(=)" "p.(=)" "" "0000245411" "00018334" "10" "8873" "0" "8873" "0" "c.8873A>G" "r.(?)" "p.(Gln2958Arg)" "" "0000245412" "00018334" "10" "13783" "-6" "13783" "-6" "c.13783-6A>G" "r.(=)" "p.(=)" "" "0000245413" "00018334" "10" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Gly592=)" "" "0000245414" "00018334" "10" "5400" "0" "5400" "0" "c.5400A>G" "r.(?)" "p.(Lys1800=)" "" "0000245418" "00018334" "10" "4597" "-11" "4597" "-11" "c.4597-11del" "r.(=)" "p.(=)" "" "0000245422" "00018334" "10" "2973" "0" "2973" "0" "c.2973A>G" "r.(?)" "p.(Ser991=)" "" "0000245427" "00018334" "10" "464" "-8" "464" "-8" "c.464-8A>C" "r.(=)" "p.(=)" "" "0000245428" "00018334" "10" "13913" "12" "13913" "12" "c.13913+12A>C" "r.(=)" "p.(=)" "" "0000245431" "00018334" "10" "1005" "13" "1005" "13" "c.1005+13A>G" "r.(=)" "p.(=)" "" "0000245449" "00018334" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Thr422=)" "" "0000245450" "00018334" "10" "2046" "0" "2046" "0" "c.2046A>G" "r.(?)" "p.(Thr682=)" "" "0000245451" "00018334" "10" "4707" "0" "4707" "0" "c.4707A>G" "r.(?)" "p.(Gly1569=)" "" "0000245452" "00018334" "10" "7038" "0" "7038" "0" "c.7038A>C" "r.(?)" "p.(Ala2346=)" "" "0000245453" "00018334" "10" "10155" "0" "10155" "0" "c.10155A>G" "r.(?)" "p.(Leu3385=)" "" "0000245507" "00018334" "10" "464" "-8" "464" "-8" "c.464-8A>T" "r.(=)" "p.(=)" "" "0000245508" "00018334" "10" "13476" "16" "13476" "16" "c.13476+16A>G" "r.(=)" "p.(=)" "" "0000245528" "00018334" "30" "11796" "0" "11796" "0" "c.11796A>G" "r.(?)" "p.(Gln3932=)" "" "0000245535" "00018334" "30" "9923" "0" "9923" "0" "c.9923A>G" "r.(?)" "p.(Asn3308Ser)" "" "0000245542" "00018334" "30" "273" "3" "273" "3" "c.273+3A>G" "r.spl?" "p.?" "" "0000245546" "00018334" "70" "11627" "0" "11627" "0" "c.11627A>T" "r.(?)" "p.(Asp3876Val)" "" "0000245551" "00018334" "70" "11321" "0" "11321" "0" "c.11321A>T" "r.(?)" "p.(Gln3774Leu)" "" "0000245582" "00018334" "50" "2490" "0" "2490" "0" "c.2490A>T" "r.(?)" "p.(Glu830Asp)" "" "0000245585" "00018334" "50" "7619" "0" "7619" "0" "c.7619A>G" "r.(?)" "p.(His2540Arg)" "" "0000245586" "00018334" "50" "13187" "0" "13187" "0" "c.13187A>G" "r.(?)" "p.(His4396Arg)" "" "0000245587" "00018334" "50" "6427" "0" "6427" "0" "c.6427A>G" "r.(?)" "p.(Ile2143Val)" "" "0000245590" "00018334" "50" "9974" "0" "9974" "0" "c.9974A>G" "r.(?)" "p.(Lys3325Arg)" "" "0000245597" "00018334" "50" "5318" "0" "5318" "0" "c.5318A>G" "r.(?)" "p.(Asn1773Ser)" "" "0000245598" "00018334" "50" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000247874" "00018334" "30" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000247875" "00018334" "30" "14299" "-12" "14299" "-12" "c.14299-12A>G" "r.(=)" "p.(=)" "" "0000248060" "00018334" "30" "4597" "-11" "4597" "-11" "c.4597-11del" "r.(=)" "p.(=)" "" "0000248071" "00018334" "30" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.?" "" "0000248107" "00018334" "30" "5619" "0" "5619" "0" "c.5619A>G" "r.(?)" "p.(Ala1873=)" "" "0000248179" "00018334" "10" "8873" "0" "8873" "0" "c.8873A>G" "r.(?)" "p.(Gln2958Arg)" "" "0000248180" "00018334" "10" "13783" "-6" "13783" "-6" "c.13783-6A>G" "r.(=)" "p.(=)" "" "0000248280" "00018334" "30" "1293" "-14" "1293" "-14" "c.1293-14A>G" "r.(=)" "p.(=)" "" "0000248281" "00018334" "30" "14808" "17" "14808" "17" "c.14808+17A>C" "r.(=)" "p.(=)" "" "0000248350" "00018334" "10" "2973" "0" "2973" "0" "c.2973A>G" "r.(?)" "p.(Ser991=)" "" "0000248423" "00018334" "10" "464" "-8" "464" "-8" "c.464-8A>C" "r.(=)" "p.(=)" "" "0000248424" "00018334" "10" "13913" "12" "13913" "12" "c.13913+12A>C" "r.(=)" "p.(=)" "" "0000248972" "00018334" "10" "1477" "-12" "1477" "-11" "c.1477-12_1477-11dup" "r.(=)" "p.(=)" "" "0000249298" "00018334" "30" "1005" "13" "1005" "13" "c.1005+13A>G" "r.(=)" "p.(=)" "" "0000249311" "00018334" "30" "1038" "0" "1038" "0" "c.1038A>G" "r.(?)" "p.(Val346=)" "" "0000249312" "00018334" "30" "7386" "0" "7386" "0" "c.7386A>G" "r.(?)" "p.(Pro2462=)" "" "0000249493" "00018334" "30" "463" "3" "463" "3" "c.463+3A>G" "r.spl?" "p.?" "" "0000249494" "00018334" "30" "4160" "7" "4160" "7" "c.4160+7A>G" "r.(=)" "p.(=)" "" "0000249495" "00018334" "30" "6166" "13" "6166" "13" "c.6166+13A>G" "r.(=)" "p.(=)" "" "0000249496" "00018334" "30" "6167" "-19" "6167" "-19" "c.6167-19A>G" "r.(=)" "p.(=)" "" "0000249497" "00018334" "30" "8209" "-3" "8209" "-3" "c.8209-3A>G" "r.spl?" "p.?" "" "0000249498" "00018334" "30" "8437" "-7" "8437" "-7" "c.8437-7dup" "r.(=)" "p.(=)" "" "0000249499" "00018334" "30" "11646" "15" "11646" "15" "c.11646+15A>G" "r.(=)" "p.(=)" "" "0000249500" "00018334" "30" "13476" "16" "13476" "16" "c.13476+16A>C" "r.(=)" "p.(=)" "" "0000249737" "00018334" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(His261Arg)" "" "0000249840" "00018334" "50" "14916" "0" "14916" "0" "c.*12A>G" "r.(=)" "p.(=)" "" "0000250656" "00018334" "10" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000250657" "00018334" "10" "14299" "-12" "14299" "-12" "c.14299-12A>G" "r.(=)" "p.(=)" "" "0000250675" "00018334" "10" "13260" "14" "13260" "14" "c.13260+14A>G" "r.(=)" "p.(=)" "" "0000250742" "00018334" "10" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.?" "" "0000250882" "00018334" "10" "8873" "0" "8873" "0" "c.8873A>G" "r.(?)" "p.(Gln2958Arg)" "" "0000250883" "00018334" "10" "13783" "-6" "13783" "-6" "c.13783-6A>G" "r.(=)" "p.(=)" "" "0000250951" "00018334" "10" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Gly592=)" "" "0000250952" "00018334" "10" "5400" "0" "5400" "0" "c.5400A>G" "r.(?)" "p.(Lys1800=)" "" "0000250974" "00018334" "10" "4597" "-11" "4597" "-11" "c.4597-11del" "r.(=)" "p.(=)" "" "0000251216" "00018334" "10" "7825" "-51" "7825" "-51" "c.7825-51del" "r.(=)" "p.(=)" "" "0000251217" "00018334" "10" "11146" "-170" "11146" "-170" "c.11146-170del" "r.(=)" "p.(=)" "" "0000251218" "00018334" "10" "13564" "-41" "13564" "-41" "c.13564-41A>G" "r.(=)" "p.(=)" "" "0000251726" "00018334" "30" "1293" "-14" "1293" "-14" "c.1293-14A>G" "r.(=)" "p.(=)" "" "0000251727" "00018334" "30" "14808" "17" "14808" "17" "c.14808+17A>C" "r.(=)" "p.(=)" "" "0000251759" "00018334" "30" "1110" "0" "1110" "0" "c.1110A>G" "r.(?)" "p.(Leu370=)" "" "0000251893" "00018334" "30" "10022" "0" "10022" "0" "c.10022A>G" "r.(?)" "p.(Lys3341Arg)" "" "0000252014" "00018334" "30" "9067" "17" "9067" "17" "c.9067+17A>C" "r.(=)" "p.(=)" "" "0000252015" "00018334" "30" "9128" "25" "9128" "25" "c.9128+25A>T" "r.(=)" "p.(=)" "" "0000252016" "00018334" "30" "11092" "-9" "11092" "-9" "c.11092-9A>T" "r.(=)" "p.(=)" "" "0000252017" "00018334" "30" "11146" "-170" "11146" "-170" "c.11146-170A>C" "r.(=)" "p.(=)" "" "0000252018" "00018334" "30" "14298" "12" "14298" "12" "c.14298+12A>G" "r.(=)" "p.(=)" "" "0000252689" "00018334" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ile217Val)" "" "0000252791" "00018334" "50" "8621" "0" "8621" "0" "c.8621A>G" "r.(?)" "p.(Tyr2874Cys)" "" "0000253008" "00018334" "10" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000253009" "00018334" "10" "14299" "-12" "14299" "-12" "c.14299-12A>G" "r.(=)" "p.(=)" "" "0000253027" "00018334" "10" "13260" "14" "13260" "14" "c.13260+14A>G" "r.(=)" "p.(=)" "" "0000253321" "00018334" "10" "4597" "-11" "4597" "-11" "c.4597-11del" "r.(=)" "p.(=)" "" "0000253394" "00018334" "10" "7342" "16" "7342" "16" "c.7342+16A>G" "r.(=)" "p.(=)" "" "0000253395" "00018334" "10" "10143" "-18" "10143" "-18" "c.10143-18A>G" "r.(=)" "p.(=)" "" "0000253699" "00018334" "10" "1053" "0" "1053" "0" "c.1053A>G" "r.(?)" "p.(Thr351=)" "" "0000253961" "00018334" "30" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.?" "" "0000254097" "00018334" "30" "5619" "0" "5619" "0" "c.5619A>G" "r.(?)" "p.(Ala1873=)" "" "0000254168" "00018334" "30" "14757" "-19" "14757" "-19" "c.14757-19A>G" "r.(=)" "p.(=)" "" "0000255046" "00018334" "30" "3729" "0" "3729" "0" "c.3729A>C" "r.(?)" "p.(Thr1243=)" "" "0000255606" "00018334" "90" "5335" "0" "5335" "0" "c.5335A>G" "r.(?)" "p.(Ser1779Gly)" "" "0000255885" "00018334" "50" "12236" "0" "12236" "0" "c.12236A>G" "r.(?)" "p.(Asp4079Gly)" "" "0000256672" "00018334" "50" "13970" "0" "13970" "0" "c.13970A>T" "r.(?)" "p.(Tyr4657Phe)" "" "0000295092" "00018334" "10" "10017" "0" "10017" "0" "c.10017C>T" "r.(?)" "p.(His3339=)" "" "0000295093" "00018334" "70" "1006" "-3" "1006" "-3" "c.1006-3T>G" "r.spl?" "p.?" "" "0000295094" "00018334" "10" "10221" "0" "10221" "0" "c.10221G>A" "r.(?)" "p.(Ser3407=)" "" "0000295095" "00018334" "10" "10254" "0" "10254" "0" "c.10254C>T" "r.(?)" "p.(Asn3418=)" "" "0000295096" "00018334" "10" "10452" "0" "10452" "0" "c.10452G>T" "r.(?)" "p.(Gly3484=)" "" "0000295097" "00018334" "10" "10503" "0" "10503" "0" "c.10503C>T" "r.(?)" "p.(Thr3501=)" "" "0000295098" "00018334" "10" "10554" "16" "10554" "16" "c.10554+16T>C" "r.(=)" "p.(=)" "" "0000295099" "00018334" "50" "10681" "0" "10681" "0" "c.10681C>G" "r.(?)" "p.(Leu3561Val)" "" "0000295100" "00018334" "10" "10776" "0" "10776" "0" "c.10776C>T" "r.(?)" "p.(Ser3592=)" "" "0000295101" "00018334" "50" "1081" "0" "1081" "0" "c.1081T>C" "r.(?)" "p.(Cys361Arg)" "" "0000295102" "00018334" "10" "10935" "18" "10935" "18" "c.10935+18C>T" "r.(=)" "p.(=)" "" "0000295103" "00018334" "10" "10941" "0" "10941" "0" "c.10941T>G" "r.(?)" "p.(Pro3647=)" "" "0000295104" "00018334" "50" "11084" "0" "11084" "0" "c.11084T>C" "r.(?)" "p.(Met3695Thr)" "" "0000295105" "00018334" "10" "11115" "0" "11115" "0" "c.11115C>T" "r.(?)" "p.(Asp3705=)" "" "0000295106" "00018334" "50" "11140" "0" "11140" "0" "c.11140T>G" "r.(?)" "p.(Phe3714Val)" "" "0000295107" "00018334" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Met)" "" "0000295108" "00018334" "10" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000295109" "00018334" "10" "1170" "10" "1170" "10" "c.1170+10T>C" "r.(=)" "p.(=)" "" "0000295110" "00018334" "70" "11746" "0" "11746" "0" "c.11746G>T" "r.(?)" "p.(Val3916Phe)" "" "0000295111" "00018334" "10" "11766" "0" "11766" "0" "c.11766G>A" "r.(?)" "p.(Glu3922=)" "" "0000295112" "00018334" "10" "11835" "0" "11835" "0" "c.11835C>T" "r.(?)" "p.(Val3945=)" "" "0000295113" "00018334" "10" "11880" "13" "11880" "16" "c.11880+13_11880+16del" "r.(=)" "p.(=)" "" "0000295114" "00018334" "10" "11963" "-11" "11963" "-11" "c.11963-11T>C" "r.(=)" "p.(=)" "" "0000295115" "00018334" "10" "11988" "0" "11988" "0" "c.11988C>T" "r.(?)" "p.(Gly3996=)" "" "0000295116" "00018334" "10" "12159" "0" "12159" "0" "c.12159G>A" "r.(?)" "p.(Glu4053=)" "" "0000295117" "00018334" "10" "12189" "0" "12189" "0" "c.12189G>A" "r.(?)" "p.(Thr4063=)" "" "0000295118" "00018334" "10" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Ser406=)" "" "0000295119" "00018334" "10" "12207" "0" "12207" "0" "c.12207T>C" "r.(?)" "p.(Cys4069=)" "" "0000295120" "00018334" "50" "12365" "0" "12365" "0" "c.12365C>T" "r.(?)" "p.(Ala4122Val)" "" "0000295121" "00018334" "50" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414His)" "" "0000295122" "00018334" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Trp)" "" "0000295123" "00018334" "70" "12620" "0" "12620" "0" "c.12620C>T" "r.(?)" "p.(Ser4207Leu)" "" "0000295124" "00018334" "10" "12705" "0" "12705" "0" "c.12705C>T" "r.(?)" "p.(Phe4235=)" "" "0000295125" "00018334" "10" "1292" "20" "1292" "20" "c.1292+20C>T" "r.(=)" "p.(=)" "" "0000295126" "00018334" "10" "13044" "0" "13044" "0" "c.13044G>A" "r.(?)" "p.(Glu4348=)" "" "0000295127" "00018334" "30" "13230" "0" "13235" "0" "c.13230_13235del" "r.(?)" "p.(Met4412_Pro4413del)" "" "0000295128" "00018334" "30" "1335" "0" "1335" "0" "c.1335C>T" "r.(?)" "p.(Val445=)" "" "0000295129" "00018334" "90" "13528" "0" "13528" "0" "c.13528G>A" "r.(?)" "p.(Ala4510Thr)" "" "0000295130" "00018334" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000295131" "00018334" "50" "13600" "0" "13600" "0" "c.13600C>T" "r.(?)" "p.(Pro4534Ser)" "" "0000295132" "00018334" "10" "13695" "0" "13695" "0" "c.13695C>T" "r.(?)" "p.(Ser4565=)" "" "0000295133" "00018334" "10" "13740" "0" "13740" "0" "c.13740G>A" "r.(?)" "p.(Thr4580=)" "" "0000295134" "00018334" "10" "13977" "0" "13977" "0" "c.13977G>A" "r.(?)" "p.(Glu4659=)" "" "0000295135" "00018334" "10" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0000295136" "00018334" "10" "14029" "0" "14029" "0" "c.14029C>T" "r.(?)" "p.(Leu4677=)" "" "0000295139" "00018334" "10" "14217" "0" "14217" "0" "c.14217del" "r.(?)" "p.(Phe4739LeufsTer15)" "" "0000295140" "00018334" "50" "14387" "0" "14387" "0" "c.14387G>A" "r.(?)" "p.(Ser4796Asn)" "" "0000295141" "00018334" "10" "14421" "0" "14421" "0" "c.14421C>T" "r.(?)" "p.(Asp4807=)" "" "0000295142" "00018334" "10" "14481" "0" "14481" "0" "c.14481C>A" "r.(?)" "p.(Ile4827=)" "" "0000295143" "00018334" "10" "14481" "0" "14481" "0" "c.14481C>T" "r.(?)" "p.(Ile4827=)" "" "0000295144" "00018334" "10" "14590" "9" "14590" "9" "c.14590+9C>A" "r.(=)" "p.(=)" "" "0000295145" "00018334" "10" "14756" "12" "14756" "12" "c.14756+12C>T" "r.(=)" "p.(=)" "" "0000295146" "00018334" "10" "14809" "-15" "14809" "-15" "c.14809-15C>G" "r.(=)" "p.(=)" "" "0000295147" "00018334" "10" "14809" "-20" "14809" "-20" "c.14809-20C>T" "r.(=)" "p.(=)" "" "0000295148" "00018334" "10" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Val507Ile)" "" "0000295149" "00018334" "10" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Asp516=)" "" "0000295150" "00018334" "50" "1574" "0" "1574" "0" "c.1574C>G" "r.(?)" "p.(Ser525Cys)" "" "0000295151" "00018334" "10" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Leu537=)" "" "0000295152" "00018334" "10" "1612" "14" "1612" "14" "c.1612+14T>C" "r.(=)" "p.(=)" "" "0000295153" "00018334" "10" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(His621=)" "" "0000295154" "00018334" "50" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Asn628Lys)" "" "0000295155" "00018334" "50" "1976" "0" "1976" "0" "c.1976T>G" "r.(?)" "p.(Ile659Ser)" "" "0000295156" "00018334" "30" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Val663Ile)" "" "0000295157" "00018334" "50" "2050" "0" "2050" "0" "c.2050C>A" "r.(?)" "p.(Pro684Thr)" "" "0000295159" "00018334" "10" "2204" "-7" "2204" "-7" "c.2204-7C>G" "r.(=)" "p.(=)" "" "0000295160" "00018334" "10" "2301" "0" "2301" "0" "c.2301G>T" "r.(?)" "p.(Ser767=)" "" "0000295161" "00018334" "10" "2397" "-6" "2397" "-6" "c.2397-6C>T" "r.(=)" "p.(=)" "" "0000295162" "00018334" "10" "2457" "0" "2457" "0" "c.2457T>C" "r.(?)" "p.(Tyr819=)" "" "0000295163" "00018334" "10" "273" "9" "273" "9" "c.273+9C>T" "r.(=)" "p.(=)" "" "0000295164" "00018334" "10" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Glu920=)" "" "0000295165" "00018334" "10" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(Leu924=)" "" "0000295167" "00018334" "10" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000295168" "00018334" "30" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000295169" "00018334" "50" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051Cys)" "" "0000295170" "00018334" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Gly1061Ser)" "" "0000295171" "00018334" "10" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Ala1090=)" "" "0000295172" "00018334" "50" "3356" "0" "3356" "0" "c.3356G>A" "r.(?)" "p.(Arg1119His)" "" "0000295173" "00018334" "10" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000295174" "00018334" "10" "3599" "-9" "3599" "-9" "c.3599-9del" "r.(=)" "p.(=)" "" "0000295175" "00018334" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000295176" "00018334" "50" "3908" "0" "3908" "0" "c.3908G>A" "r.(?)" "p.(Arg1303His)" "" "0000295177" "00018334" "10" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Pro1535=)" "" "0000295178" "00018334" "10" "4684" "-11" "4684" "-11" "c.4684-11C>T" "r.(=)" "p.(=)" "" "0000295179" "00018334" "10" "4684" "-5" "4684" "-5" "c.4684-5G>C" "r.spl?" "p.?" "" "0000295180" "00018334" "10" "4989" "0" "4989" "0" "c.4989C>T" "r.(?)" "p.(Ala1663=)" "" "0000295181" "00018334" "10" "5154" "0" "5154" "0" "c.5154G>A" "r.(?)" "p.(Arg1718=)" "" "0000295182" "00018334" "10" "5454" "0" "5454" "0" "c.5454T>C" "r.(?)" "p.(Phe1818=)" "" "0000295183" "00018334" "10" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Val1850=)" "" "0000295184" "00018334" "10" "5586" "0" "5586" "0" "c.5586C>T" "r.(?)" "p.(Asp1862=)" "" "0000295185" "00018334" "10" "5613" "0" "5613" "0" "c.5613C>T" "r.(?)" "p.(Asp1871=)" "" "0000295186" "00018334" "10" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000295187" "00018334" "10" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Ser)" "" "0000295188" "00018334" "50" "6203" "0" "6203" "0" "c.6203G>A" "r.(?)" "p.(Arg2068Gln)" "" "0000295189" "00018334" "10" "6441" "-19" "6441" "-19" "c.6441-19C>T" "r.(=)" "p.(=)" "" "0000295190" "00018334" "50" "6532" "0" "6532" "0" "c.6532G>A" "r.(?)" "p.(Val2178Ile)" "" "0000295191" "00018334" "10" "677" "-11" "677" "-11" "c.677-11T>A" "r.(=)" "p.(=)" "" "0000295192" "00018334" "10" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Leu2302=)" "" "0000295193" "00018334" "10" "6928" "4" "6928" "4" "c.6928+4G>A" "r.spl?" "p.?" "" "0000295194" "00018334" "10" "7071" "0" "7071" "0" "c.7071T>C" "r.(?)" "p.(Pro2357=)" "" "0000295195" "00018334" "10" "7161" "0" "7161" "0" "c.7161G>A" "r.(?)" "p.(Ala2387=)" "" "0000295196" "00018334" "70" "7202" "0" "7202" "0" "c.7202G>T" "r.(?)" "p.(Arg2401Leu)" "" "0000295197" "00018334" "70" "724" "0" "724" "0" "c.724G>C" "r.(?)" "p.(Asp242His)" "" "0000295198" "00018334" "70" "7303" "0" "7303" "0" "c.7303G>T" "r.(?)" "p.(Val2435Phe)" "" "0000295199" "00018334" "10" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0000295200" "00018334" "10" "7488" "0" "7488" "0" "c.7488C>T" "r.(?)" "p.(Leu2496=)" "" "0000295201" "00018334" "10" "7512" "14" "7512" "14" "c.7512+14G>T" "r.(=)" "p.(=)" "" "0000295202" "00018334" "10" "7542" "0" "7542" "0" "c.7542G>A" "r.(?)" "p.(Leu2514=)" "" "0000295204" "00018334" "10" "7806" "0" "7806" "0" "c.7806C>T" "r.(?)" "p.(His2602=)" "" "0000295205" "00018334" "10" "7824" "20" "7824" "20" "c.7824+20G>A" "r.(=)" "p.(=)" "" "0000295206" "00018334" "50" "8145" "0" "8145" "0" "c.8145G>T" "r.(?)" "p.(Glu2715Asp)" "" "0000295207" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000295209" "00018334" "10" "8448" "0" "8448" "0" "c.8448C>T" "r.(?)" "p.(Asp2816=)" "" "0000295210" "00018334" "30" "8898" "0" "8898" "0" "c.8898C>T" "r.(?)" "p.(Val2966=)" "" "0000295211" "00018334" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Cys)" "" "0000295212" "00018334" "10" "9067" "12" "9067" "12" "c.9067+12C>T" "r.(=)" "p.(=)" "" "0000295213" "00018334" "50" "9190" "0" "9190" "0" "c.9190G>A" "r.(?)" "p.(Ala3064Thr)" "" "0000295214" "00018334" "10" "9318" "0" "9318" "0" "c.9318T>G" "r.(?)" "p.(Ser3106=)" "" "0000295215" "00018334" "10" "9449" "8" "9449" "8" "c.9449+8T>A" "r.(=)" "p.(=)" "" "0000295216" "00018334" "50" "9458" "0" "9458" "0" "c.9458C>T" "r.(?)" "p.(Ser3153Phe)" "" "0000295217" "00018334" "50" "950" "0" "950" "0" "c.950T>C" "r.(?)" "p.(Met317Thr)" "" "0000295218" "00018334" "10" "9519" "0" "9519" "0" "c.9519T>C" "r.(?)" "p.(Thr3173=)" "" "0000295219" "00018334" "50" "9571" "0" "9571" "0" "c.9571G>C" "r.(?)" "p.(Glu3191Gln)" "" "0000295220" "00018334" "10" "9672" "0" "9672" "0" "c.9672C>T" "r.(?)" "p.(Ser3224=)" "" "0000295221" "00018334" "10" "9891" "0" "9891" "0" "c.9891G>A" "r.(?)" "p.(Lys3297=)" "" "0000297755" "00018334" "30" "10017" "0" "10017" "0" "c.10017C>T" "r.(?)" "p.(His3339=)" "" "0000297756" "00018334" "50" "10031" "0" "10031" "0" "c.10031C>T" "r.(?)" "p.(Ala3344Val)" "" "0000297757" "00018334" "30" "10221" "0" "10221" "0" "c.10221G>A" "r.(?)" "p.(Ser3407=)" "" "0000297758" "00018334" "30" "10231" "-7" "10231" "-4" "c.10231-7_10231-4del" "r.spl?" "p.?" "" "0000297759" "00018334" "30" "10254" "0" "10254" "0" "c.10254C>T" "r.(?)" "p.(Asn3418=)" "" "0000297760" "00018334" "50" "10327" "0" "10327" "0" "c.10327G>C" "r.(?)" "p.(Ala3443Pro)" "" "0000297761" "00018334" "10" "10503" "0" "10503" "0" "c.10503C>T" "r.(?)" "p.(Thr3501=)" "" "0000297762" "00018334" "50" "10517" "0" "10517" "0" "c.10517G>A" "r.(?)" "p.(Arg3506Gln)" "" "0000297763" "00018334" "50" "10738" "0" "10738" "0" "c.10738C>T" "r.(?)" "p.(Gln3580Ter)" "" "0000297764" "00018334" "10" "10776" "0" "10776" "0" "c.10776C>T" "r.(?)" "p.(Ser3592=)" "" "0000297765" "00018334" "50" "10790" "0" "10790" "0" "c.10790G>T" "r.(?)" "p.(Arg3597Met)" "" "0000297766" "00018334" "10" "10935" "18" "10935" "18" "c.10935+18C>T" "r.(=)" "p.(=)" "" "0000297767" "00018334" "30" "10941" "0" "10941" "0" "c.10941T>G" "r.(?)" "p.(Pro3647=)" "" "0000297768" "00018334" "10" "11092" "-11" "11092" "-11" "c.11092-11dup" "r.(=)" "p.(=)" "" "0000297769" "00018334" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asp378=)" "" "0000297770" "00018334" "30" "11403" "-16" "11403" "-16" "c.11403-16dup" "r.(=)" "p.(=)" "" "0000297771" "00018334" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ser381=)" "" "0000297772" "00018334" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Met)" "" "0000297773" "00018334" "30" "11476" "15" "11476" "15" "c.11476+15C>T" "r.(=)" "p.(=)" "" "0000297774" "00018334" "30" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000297775" "00018334" "30" "11811" "0" "11811" "0" "c.11811C>T" "r.(?)" "p.(His3937=)" "" "0000297776" "00018334" "50" "11889" "0" "11889" "0" "c.11889T>G" "r.(?)" "p.(Ser3963Arg)" "" "0000297777" "00018334" "30" "11988" "0" "11988" "0" "c.11988C>T" "r.(?)" "p.(Gly3996=)" "" "0000297778" "00018334" "50" "12047" "0" "12047" "0" "c.12047T>A" "r.(?)" "p.(Phe4016Tyr)" "" "0000297779" "00018334" "30" "12111" "0" "12111" "0" "c.12111C>T" "r.(?)" "p.(Pro4037=)" "" "0000297780" "00018334" "30" "12159" "0" "12159" "0" "c.12159G>A" "r.(?)" "p.(Glu4053=)" "" "0000297781" "00018334" "30" "12189" "0" "12189" "0" "c.12189G>A" "r.(?)" "p.(Thr4063=)" "" "0000297782" "00018334" "30" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Ser406=)" "" "0000297783" "00018334" "30" "12207" "0" "12207" "0" "c.12207T>C" "r.(?)" "p.(Cys4069=)" "" "0000297784" "00018334" "50" "12341" "0" "12341" "0" "c.12341G>A" "r.(?)" "p.(Arg4114Gln)" "" "0000297785" "00018334" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Arg414Cys)" "" "0000297786" "00018334" "50" "12488" "0" "12488" "0" "c.12488C>A" "r.(?)" "p.(Pro4163His)" "" "0000297787" "00018334" "70" "12620" "0" "12620" "0" "c.12620C>T" "r.(?)" "p.(Ser4207Leu)" "" "0000297788" "00018334" "30" "12858" "0" "12858" "0" "c.12858C>T" "r.(?)" "p.(Ser4286=)" "" "0000297789" "00018334" "30" "1292" "20" "1292" "20" "c.1292+20C>T" "r.(=)" "p.(=)" "" "0000297790" "00018334" "30" "13137" "0" "13137" "0" "c.13137C>A" "r.(?)" "p.(Ile4379=)" "" "0000297791" "00018334" "30" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Ala440=)" "" "0000297792" "00018334" "50" "13291" "0" "13291" "0" "c.13291G>A" "r.(?)" "p.(Glu4431Lys)" "" "0000297793" "00018334" "30" "1335" "0" "1335" "0" "c.1335C>T" "r.(?)" "p.(Val445=)" "" "0000297794" "00018334" "30" "13406" "0" "13406" "0" "c.13406G>C" "r.(?)" "p.(Arg4469Thr)" "" "0000297795" "00018334" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000297796" "00018334" "30" "13644" "0" "13644" "0" "c.13644C>T" "r.(?)" "p.(Asp4548=)" "" "0000297797" "00018334" "30" "13956" "9" "13956" "12" "c.13956+9_13956+12del" "r.(=)" "p.(=)" "" "0000297798" "00018334" "30" "13977" "0" "13977" "0" "c.13977G>A" "r.(?)" "p.(Glu4659=)" "" "0000297799" "00018334" "30" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0000297800" "00018334" "30" "14029" "0" "14029" "0" "c.14029C>T" "r.(?)" "p.(Leu4677=)" "" "0000297801" "00018334" "10" "14091" "-11" "14091" "-11" "c.14091-11dup" "r.(=)" "p.(=)" "" "0000297802" "00018334" "10" "14091" "-12" "14091" "-11" "c.14091-12_14091-11dup" "r.(=)" "p.(=)" "" "0000297803" "00018334" "30" "14152" "-16" "14152" "-16" "c.14152-16C>T" "r.(=)" "p.(=)" "" "0000297804" "00018334" "30" "14310" "0" "14310" "0" "c.14310C>T" "r.(?)" "p.(Thr4770=)" "" "0000297805" "00018334" "30" "14421" "0" "14421" "0" "c.14421C>T" "r.(?)" "p.(Asp4807=)" "" "0000297806" "00018334" "30" "14484" "0" "14484" "0" "c.14484G>T" "r.(?)" "p.(Gly4828=)" "" "0000297807" "00018334" "10" "1477" "-11" "1477" "-11" "c.1477-11dup" "r.(=)" "p.(=)" "" "0000297808" "00018334" "30" "14809" "-15" "14809" "-15" "c.14809-15C>G" "r.(=)" "p.(=)" "" "0000297809" "00018334" "30" "14809" "-20" "14809" "-20" "c.14809-20C>T" "r.(=)" "p.(=)" "" "0000297810" "00018334" "30" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Asp516=)" "" "0000297811" "00018334" "30" "1596" "0" "1596" "0" "c.1596T>C" "r.(?)" "p.(Ser532=)" "" "0000297812" "00018334" "10" "1612" "14" "1612" "14" "c.1612+14T>C" "r.(=)" "p.(=)" "" "0000297813" "00018334" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(His621=)" "" "0000297814" "00018334" "30" "2204" "-16" "2204" "-16" "c.2204-16G>T" "r.(=)" "p.(=)" "" "0000297815" "00018334" "30" "2204" "-7" "2204" "-7" "c.2204-7C>G" "r.(=)" "p.(=)" "" "0000297816" "00018334" "50" "2207" "0" "2207" "0" "c.2207G>T" "r.(?)" "p.(Cys736Phe)" "" "0000297817" "00018334" "30" "2397" "-6" "2397" "-6" "c.2397-6C>T" "r.(=)" "p.(=)" "" "0000297818" "00018334" "50" "2441" "0" "2443" "0" "c.2441_2443del" "r.(?)" "p.(Leu814del)" "" "0000297819" "00018334" "50" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Pro815Leu)" "" "0000297820" "00018334" "30" "2613" "4" "2613" "4" "c.2613+4C>G" "r.spl?" "p.?" "" "0000297821" "00018334" "50" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Val873Met)" "" "0000297822" "00018334" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Pro906Leu)" "" "0000297823" "00018334" "30" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Glu920=)" "" "0000297824" "00018334" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000297825" "00018334" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000297826" "00018334" "30" "3054" "0" "3054" "0" "c.3054T>C" "r.(?)" "p.(Tyr1018=)" "" "0000297827" "00018334" "10" "310" "-23" "310" "-21" "c.310-23_310-21del" "r.(=)" "p.(=)" "" "0000297828" "00018334" "50" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051Cys)" "" "0000297829" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000297830" "00018334" "30" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000297831" "00018334" "30" "3417" "0" "3417" "0" "c.3417C>T" "r.(?)" "p.(Gly1139=)" "" "0000297832" "00018334" "10" "3599" "-9" "3599" "-9" "c.3599-9del" "r.(=)" "p.(=)" "" "0000297833" "00018334" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Asn1296=)" "" "0000297834" "00018334" "30" "3978" "0" "3978" "0" "c.3978C>G" "r.(?)" "p.(Gly1326=)" "" "0000297835" "00018334" "50" "4148" "0" "4148" "0" "c.4148G>A" "r.(?)" "p.(Arg1383His)" "" "0000297836" "00018334" "30" "4596" "12" "4596" "12" "c.4596+12G>A" "r.(=)" "p.(=)" "" "0000297837" "00018334" "30" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Pro1535=)" "" "0000297838" "00018334" "30" "4734" "0" "4734" "0" "c.4734C>A" "r.(?)" "p.(Pro1578=)" "" "0000297839" "00018334" "30" "4740" "0" "4740" "0" "c.4740G>A" "r.(?)" "p.(Pro1580=)" "" "0000297840" "00018334" "10" "49" "-172" "49" "-172" "c.49-172C>T" "r.(=)" "p.(=)" "" "0000297841" "00018334" "30" "5001" "0" "5001" "0" "c.5001T>C" "r.(?)" "p.(Leu1667=)" "" "0000297842" "00018334" "30" "5454" "0" "5454" "0" "c.5454T>C" "r.(?)" "p.(Phe1818=)" "" "0000297843" "00018334" "30" "5586" "0" "5586" "0" "c.5586C>T" "r.(?)" "p.(Asp1862=)" "" "0000297844" "00018334" "30" "5613" "0" "5613" "0" "c.5613C>T" "r.(?)" "p.(Asp1871=)" "" "0000297845" "00018334" "30" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000297846" "00018334" "30" "576" "7" "576" "7" "c.576+7G>C" "r.(=)" "p.(=)" "" "0000297847" "00018334" "30" "6023" "-8" "6023" "-8" "c.6023-8T>C" "r.(=)" "p.(=)" "" "0000297848" "00018334" "50" "6187" "0" "6187" "0" "c.6187T>C" "r.(?)" "p.(Ser2063Pro)" "" "0000297849" "00018334" "50" "6207" "0" "6207" "0" "c.6207G>A" "r.(?)" "p.(Trp2069Ter)" "" "0000297850" "00018334" "30" "6441" "-19" "6441" "-19" "c.6441-19C>T" "r.(=)" "p.(=)" "" "0000297851" "00018334" "50" "6496" "0" "6496" "0" "c.6496G>C" "r.(?)" "p.(Gly2166Arg)" "" "0000297852" "00018334" "30" "6555" "8" "6555" "8" "c.6555+8C>T" "r.(=)" "p.(=)" "" "0000297853" "00018334" "50" "6593" "0" "6593" "0" "c.6593G>A" "r.(?)" "p.(Arg2198His)" "" "0000297854" "00018334" "30" "6738" "0" "6738" "0" "c.6738G>T" "r.(?)" "p.(Ser2246=)" "" "0000297855" "00018334" "10" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Leu2302=)" "" "0000297856" "00018334" "30" "6928" "4" "6928" "4" "c.6928+4G>A" "r.spl?" "p.?" "" "0000297857" "00018334" "30" "7083" "0" "7083" "0" "c.7083T>C" "r.(?)" "p.(Gly2361=)" "" "0000297858" "00018334" "30" "7099" "0" "7099" "0" "c.7099G>A" "r.(?)" "p.(Gly2367Arg)" "" "0000297859" "00018334" "30" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0000297860" "00018334" "30" "7488" "0" "7488" "0" "c.7488C>T" "r.(?)" "p.(Leu2496=)" "" "0000297861" "00018334" "30" "7623" "0" "7623" "0" "c.7623C>T" "r.(?)" "p.(His2541=)" "" "0000297862" "00018334" "10" "7806" "0" "7806" "0" "c.7806C>T" "r.(?)" "p.(His2602=)" "" "0000297863" "00018334" "30" "7824" "20" "7824" "20" "c.7824+20G>A" "r.(=)" "p.(=)" "" "0000297864" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000297865" "00018334" "50" "8366" "0" "8366" "0" "c.8366T>C" "r.(?)" "p.(Ile2789Thr)" "" "0000297866" "00018334" "30" "8448" "0" "8448" "0" "c.8448C>T" "r.(?)" "p.(Asp2816=)" "" "0000297867" "00018334" "50" "8596" "0" "8598" "0" "c.8596_8598del" "r.(?)" "p.(Gly2866del)" "" "0000297868" "00018334" "30" "8643" "0" "8643" "0" "c.8643G>A" "r.(?)" "p.(Glu2881=)" "" "0000297869" "00018334" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Cys)" "" "0000297870" "00018334" "50" "8968" "0" "8968" "0" "c.8968C>T" "r.(?)" "p.(Leu2990Phe)" "" "0000297871" "00018334" "30" "9067" "10" "9067" "10" "c.9067+10C>T" "r.(=)" "p.(=)" "" "0000297872" "00018334" "30" "9067" "12" "9067" "12" "c.9067+12C>T" "r.(=)" "p.(=)" "" "0000297873" "00018334" "50" "9108" "0" "9108" "0" "c.9108G>C" "r.(?)" "p.(Leu3036Phe)" "" "0000297874" "00018334" "10" "9318" "0" "9318" "0" "c.9318T>G" "r.(?)" "p.(Ser3106=)" "" "0000297875" "00018334" "30" "9449" "8" "9449" "8" "c.9449+8T>A" "r.(=)" "p.(=)" "" "0000297876" "00018334" "50" "9454" "0" "9454" "0" "c.9454C>T" "r.(?)" "p.(Arg3152Cys)" "" "0000297877" "00018334" "30" "9519" "0" "9519" "0" "c.9519T>C" "r.(?)" "p.(Thr3173=)" "" "0000297878" "00018334" "30" "9672" "0" "9672" "0" "c.9672C>T" "r.(?)" "p.(Ser3224=)" "" "0000297879" "00018334" "30" "9963" "0" "9963" "0" "c.9963G>A" "r.(?)" "p.(Pro3321=)" "" "0000297880" "00018334" "30" "9996" "0" "9996" "0" "c.9996G>T" "r.(?)" "p.(Thr3332=)" "" "0000301554" "00018334" "30" "10017" "0" "10017" "0" "c.10017C>T" "r.(?)" "p.(His3339=)" "" "0000301555" "00018334" "10" "10254" "0" "10254" "0" "c.10254C>T" "r.(?)" "p.(Asn3418=)" "" "0000301556" "00018334" "30" "10936" "-108" "10936" "-108" "c.10936-108G>A" "r.(=)" "p.(=)" "" "0000301557" "00018334" "30" "10936" "-36" "10936" "-36" "c.10936-36T>A" "r.(=)" "p.(=)" "" "0000301558" "00018334" "30" "10941" "0" "10941" "0" "c.10941T>G" "r.(?)" "p.(Pro3647=)" "" "0000301559" "00018334" "30" "11092" "-125" "11092" "-125" "c.11092-125G>T" "r.(=)" "p.(=)" "" "0000301560" "00018334" "10" "11092" "-25" "11092" "-25" "c.11092-25T>C" "r.(=)" "p.(=)" "" "0000301561" "00018334" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asp378=)" "" "0000301562" "00018334" "30" "11355" "0" "11355" "0" "c.11355G>A" "r.(?)" "p.(Lys3785=)" "" "0000301563" "00018334" "30" "11403" "-16" "11403" "-16" "c.11403-16del" "r.(=)" "p.(=)" "" "0000301564" "00018334" "10" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000301565" "00018334" "10" "11776" "-21" "11776" "-21" "c.11776-21G>A" "r.(=)" "p.(=)" "" "0000301566" "00018334" "30" "11880" "13" "11880" "16" "c.11880+13_11880+16del" "r.(=)" "p.(=)" "" "0000301567" "00018334" "50" "11962" "4" "11962" "4" "c.11962+4G>C" "r.spl?" "p.?" "" "0000301568" "00018334" "30" "11963" "-4" "11963" "-4" "c.11963-4C>T" "r.spl?" "p.?" "" "0000301569" "00018334" "30" "12159" "0" "12159" "0" "c.12159G>A" "r.(?)" "p.(Glu4053=)" "" "0000301570" "00018334" "30" "12492" "0" "12492" "0" "c.12492G>A" "r.(?)" "p.(Gln4164=)" "" "0000301571" "00018334" "30" "12705" "0" "12705" "0" "c.12705C>T" "r.(?)" "p.(Phe4235=)" "" "0000301572" "00018334" "50" "12859" "0" "12859" "0" "c.12859T>C" "r.(?)" "p.(Tyr4287His)" "" "0000301573" "00018334" "70" "12944" "0" "12944" "0" "c.12944G>A" "r.(?)" "p.(Gly4315Glu)" "" "0000301574" "00018334" "50" "13528" "0" "13528" "0" "c.13528G>A" "r.(?)" "p.(Ala4510Thr)" "" "0000301575" "00018334" "30" "13593" "0" "13593" "0" "c.13593G>A" "r.(?)" "p.(Lys4531=)" "" "0000301576" "00018334" "10" "13740" "0" "13740" "0" "c.13740G>A" "r.(?)" "p.(Thr4580=)" "" "0000301577" "00018334" "30" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0000301578" "00018334" "30" "14091" "-11" "14091" "-11" "c.14091-11del" "r.(=)" "p.(=)" "" "0000301579" "00018334" "30" "14091" "-26" "14091" "-26" "c.14091-26C>T" "r.(=)" "p.(=)" "" "0000301580" "00018334" "30" "14217" "0" "14217" "0" "c.14217del" "r.(?)" "p.(Phe4739LeufsTer15)" "" "0000301581" "00018334" "10" "14590" "171" "14590" "171" "c.14590+171G>A" "r.(=)" "p.(=)" "" "0000301582" "00018334" "30" "14656" "-4" "14656" "-4" "c.14656-4C>G" "r.spl?" "p.?" "" "0000301583" "00018334" "10" "14756" "12" "14756" "12" "c.14756+12C>T" "r.(=)" "p.(=)" "" "0000301584" "00018334" "30" "1477" "-11" "1477" "-11" "c.1477-11del" "r.(=)" "p.(=)" "" "0000301585" "00018334" "30" "14809" "-15" "14809" "-15" "c.14809-15C>G" "r.(=)" "p.(=)" "" "0000301586" "00018334" "10" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Val507Ile)" "" "0000301587" "00018334" "10" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Asp516=)" "" "0000301588" "00018334" "10" "2204" "-7" "2204" "-7" "c.2204-7C>G" "r.(=)" "p.(=)" "" "0000301589" "00018334" "30" "2396" "10" "2396" "10" "c.2396+10T>C" "r.(=)" "p.(=)" "" "0000301590" "00018334" "10" "2397" "-6" "2397" "-6" "c.2397-6C>T" "r.(=)" "p.(=)" "" "0000301591" "00018334" "10" "2823" "-65" "2823" "-65" "c.2823-65C>T" "r.(=)" "p.(=)" "" "0000301592" "00018334" "50" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Gly1015Asp)" "" "0000301593" "00018334" "30" "3067" "-9" "3067" "-9" "c.3067-9T>G" "r.(=)" "p.(=)" "" "0000301594" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000301595" "00018334" "30" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000301596" "00018334" "10" "3599" "-9" "3599" "-9" "c.3599-9del" "r.(=)" "p.(=)" "" "0000301597" "00018334" "30" "3599" "-6" "3599" "-6" "c.3599-6T>C" "r.(=)" "p.(=)" "" "0000301598" "00018334" "50" "3717" "0" "3717" "0" "c.3717T>G" "r.(?)" "p.(Phe1239Leu)" "" "0000301599" "00018334" "30" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482His)" "" "0000301600" "00018334" "10" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Pro1535=)" "" "0000301601" "00018334" "10" "4684" "-5" "4684" "-5" "c.4684-5G>C" "r.spl?" "p.?" "" "0000301602" "00018334" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Cys158Tyr)" "" "0000301603" "00018334" "70" "5170" "0" "5170" "0" "c.5170G>A" "r.(?)" "p.(Glu1724Lys)" "" "0000301604" "00018334" "30" "5508" "0" "5508" "0" "c.5508C>T" "r.(?)" "p.(Asn1836=)" "" "0000301605" "00018334" "30" "5586" "0" "5586" "0" "c.5586C>T" "r.(?)" "p.(Asp1862=)" "" "0000301606" "00018334" "10" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000301607" "00018334" "50" "6431" "0" "6431" "0" "c.6431G>A" "r.(?)" "p.(Arg2144His)" "" "0000301608" "00018334" "10" "6441" "-19" "6441" "-19" "c.6441-19C>T" "r.(=)" "p.(=)" "" "0000301609" "00018334" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Ile217=)" "" "0000301610" "00018334" "70" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Gly230Asp)" "" "0000301611" "00018334" "10" "6928" "4" "6928" "4" "c.6928+4G>A" "r.spl?" "p.?" "" "0000301612" "00018334" "30" "7095" "0" "7095" "0" "c.7095T>A" "r.(?)" "p.(Asn2365Lys)" "" "0000301613" "00018334" "10" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0000301614" "00018334" "10" "7488" "0" "7488" "0" "c.7488C>T" "r.(?)" "p.(Leu2496=)" "" "0000301615" "00018334" "10" "773" "141" "773" "141" "c.773+141C>T" "r.(=)" "p.(=)" "" "0000301616" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000301617" "00018334" "50" "8249" "0" "8249" "0" "c.8249C>A" "r.(?)" "p.(Ser2750Tyr)" "" "0000301619" "00018334" "30" "8590" "11" "8590" "11" "c.8590+11C>T" "r.(=)" "p.(=)" "" "0000301620" "00018334" "10" "8715" "-30" "8715" "-30" "c.8715-30G>A" "r.(=)" "p.(=)" "" "0000301621" "00018334" "30" "8715" "-5" "8715" "-5" "c.8715-5T>C" "r.spl?" "p.?" "" "0000301622" "00018334" "30" "8830" "9" "8830" "9" "c.8830+9C>T" "r.(=)" "p.(=)" "" "0000301623" "00018334" "10" "9018" "-89" "9018" "-89" "c.9018-89C>T" "r.(=)" "p.(=)" "" "0000301624" "00018334" "30" "9067" "10" "9067" "10" "c.9067+10C>T" "r.(=)" "p.(=)" "" "0000301625" "00018334" "10" "9067" "12" "9067" "12" "c.9067+12C>T" "r.(=)" "p.(=)" "" "0000301626" "00018334" "10" "9449" "8" "9449" "8" "c.9449+8T>A" "r.(=)" "p.(=)" "" "0000301627" "00018334" "30" "9519" "0" "9519" "0" "c.9519T>C" "r.(?)" "p.(Thr3173=)" "" "0000301628" "00018334" "50" "9655" "0" "9655" "0" "c.9655G>A" "r.(?)" "p.(Val3219Met)" "" "0000301629" "00018334" "10" "9666" "0" "9666" "0" "c.9666C>T" "r.(?)" "p.(Ala3222=)" "" "0000301630" "00018334" "50" "9667" "0" "9667" "0" "c.9667G>A" "r.(?)" "p.(Glu3223Lys)" "" "0000301631" "00018334" "30" "9902" "-14" "9902" "-14" "c.9902-14C>T" "r.(=)" "p.(=)" "" "0000307536" "00018334" "30" "10254" "0" "10254" "0" "c.10254C>T" "r.(?)" "p.(Asn3418=)" "" "0000307537" "00018334" "30" "10641" "0" "10641" "0" "c.10641G>A" "r.(?)" "p.(Thr3547=)" "" "0000307538" "00018334" "30" "10935" "17" "10935" "17" "c.10935+17G>T" "r.(=)" "p.(=)" "" "0000307539" "00018334" "30" "10941" "0" "10941" "0" "c.10941T>G" "r.(?)" "p.(Pro3647=)" "" "0000307540" "00018334" "30" "11073" "0" "11073" "0" "c.11073T>C" "r.(?)" "p.(Tyr3691=)" "" "0000307541" "00018334" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asp378=)" "" "0000307542" "00018334" "50" "11398" "0" "11398" "0" "c.11398T>A" "r.(?)" "p.(Cys3800Ser)" "" "0000307543" "00018334" "10" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000307544" "00018334" "50" "11777" "0" "11777" "0" "c.11777G>A" "r.(?)" "p.(Gly3926Asp)" "" "0000307545" "00018334" "10" "11835" "0" "11835" "0" "c.11835C>T" "r.(?)" "p.(Val3945=)" "" "0000307546" "00018334" "10" "11988" "0" "11988" "0" "c.11988C>T" "r.(?)" "p.(Gly3996=)" "" "0000307547" "00018334" "50" "12106" "0" "12106" "0" "c.12106G>A" "r.(?)" "p.(Asp4036Asn)" "" "0000307548" "00018334" "30" "12159" "0" "12159" "0" "c.12159G>A" "r.(?)" "p.(Glu4053=)" "" "0000307549" "00018334" "30" "12189" "0" "12189" "0" "c.12189G>A" "r.(?)" "p.(Thr4063=)" "" "0000307550" "00018334" "50" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414His)" "" "0000307551" "00018334" "10" "1292" "20" "1292" "20" "c.1292+20C>T" "r.(=)" "p.(=)" "" "0000307552" "00018334" "30" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Gly432=)" "" "0000307553" "00018334" "10" "13566" "0" "13566" "0" "c.13566C>T" "r.(?)" "p.(Val4522=)" "" "0000307554" "00018334" "30" "13666" "0" "13666" "0" "c.13666G>A" "r.(?)" "p.(Ala4556Thr)" "" "0000307555" "00018334" "10" "13740" "0" "13740" "0" "c.13740G>A" "r.(?)" "p.(Thr4580=)" "" "0000307556" "00018334" "30" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0000307557" "00018334" "30" "14481" "0" "14481" "0" "c.14481C>A" "r.(?)" "p.(Ile4827=)" "" "0000307558" "00018334" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0000307559" "00018334" "50" "14655" "0" "14655" "0" "c.14655G>A" "r.(?)" "p.(Glu4885=)" "" "0000307560" "00018334" "10" "14756" "12" "14756" "12" "c.14756+12C>T" "r.(=)" "p.(=)" "" "0000307561" "00018334" "50" "14757" "-7" "14757" "-6" "c.14757-7_14757-6delinsAT" "r.(=)" "p.(=)" "" "0000307562" "00018334" "10" "14809" "-15" "14809" "-15" "c.14809-15C>G" "r.(=)" "p.(=)" "" "0000307563" "00018334" "30" "14809" "-20" "14809" "-20" "c.14809-20C>T" "r.(=)" "p.(=)" "" "0000307564" "00018334" "10" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Val507Ile)" "" "0000307565" "00018334" "10" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Leu537=)" "" "0000307566" "00018334" "10" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(His621=)" "" "0000307567" "00018334" "10" "2301" "0" "2301" "0" "c.2301G>T" "r.(?)" "p.(Ser767=)" "" "0000307568" "00018334" "10" "2397" "-6" "2397" "-6" "c.2397-6C>T" "r.(=)" "p.(=)" "" "0000307570" "00018334" "30" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Glu920=)" "" "0000307571" "00018334" "30" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000307572" "00018334" "30" "3093" "0" "3093" "0" "c.3093C>T" "r.(?)" "p.(Arg1031=)" "" "0000307573" "00018334" "30" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Ala1090=)" "" "0000307574" "00018334" "10" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000307575" "00018334" "30" "3708" "0" "3708" "0" "c.3708T>C" "r.(?)" "p.(Tyr1236=)" "" "0000307576" "00018334" "30" "3808" "-17" "3808" "-17" "c.3808-17G>A" "r.(=)" "p.(=)" "" "0000307577" "00018334" "50" "4465" "0" "4465" "0" "c.4465T>C" "r.(?)" "p.(Cys1489Arg)" "" "0000307578" "00018334" "10" "4684" "-5" "4684" "-5" "c.4684-5G>C" "r.spl?" "p.?" "" "0000307579" "00018334" "10" "4989" "0" "4989" "0" "c.4989C>T" "r.(?)" "p.(Ala1663=)" "" "0000307580" "00018334" "30" "5586" "0" "5586" "0" "c.5586C>T" "r.(?)" "p.(Asp1862=)" "" "0000307581" "00018334" "30" "5613" "0" "5613" "0" "c.5613C>T" "r.(?)" "p.(Asp1871=)" "" "0000307582" "00018334" "10" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000307583" "00018334" "30" "5716" "-16" "5716" "-16" "c.5716-16T>C" "r.(=)" "p.(=)" "" "0000307584" "00018334" "10" "576" "7" "576" "7" "c.576+7G>C" "r.(=)" "p.(=)" "" "0000307585" "00018334" "10" "6441" "-19" "6441" "-19" "c.6441-19C>T" "r.(=)" "p.(=)" "" "0000307586" "00018334" "10" "6928" "4" "6928" "4" "c.6928+4G>A" "r.spl?" "p.?" "" "0000307587" "00018334" "30" "7233" "0" "7233" "0" "c.7233C>T" "r.(?)" "p.(Ala2411=)" "" "0000307588" "00018334" "30" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0000307589" "00018334" "10" "7488" "0" "7488" "0" "c.7488C>T" "r.(?)" "p.(Leu2496=)" "" "0000307590" "00018334" "50" "7543" "0" "7543" "0" "c.7543G>A" "r.(?)" "p.(Ala2515Thr)" "" "0000307591" "00018334" "10" "8448" "0" "8448" "0" "c.8448C>T" "r.(?)" "p.(Asp2816=)" "" "0000307592" "00018334" "30" "9067" "12" "9067" "12" "c.9067+12C>T" "r.(=)" "p.(=)" "" "0000307593" "00018334" "50" "9534" "0" "9535" "0" "c.9534_9535del" "r.(?)" "p.(His3178GlnfsTer22)" "" "0000321399" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000321400" "00018334" "50" "8968" "0" "8968" "0" "c.8968C>G" "r.(?)" "p.(Leu2990Val)" "" "0000321402" "00018334" "30" "10681" "0" "10681" "0" "c.10681C>G" "r.(?)" "p.(Leu3561Val)" "" "0000321403" "00018334" "50" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(=)" "p.(=)" "" "0000321404" "00018334" "50" "14757" "-6" "14757" "-6" "c.14757-6C>T" "r.(=)" "p.(=)" "" "0000341451" "00018334" "90" "13528" "0" "13528" "0" "c.13528G>A" "r.(?)" "p.(Ala4510Thr)" "" "0000405537" "00018334" "70" "13735" "0" "13735" "0" "c.13735C>T" "r.(?)" "p.(His4579Tyr)" "94" "0000406013" "00018334" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000441105" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.Pro1583Ser" "" "0000506275" "00018334" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Ala77Val)" "" "0000506276" "00018334" "50" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(Asp94Val)" "" "0000506277" "00018334" "10" "294" "7" "294" "8" "c.294+7_294+8dup" "r.(=)" "p.(=)" "" "0000506278" "00018334" "30" "309" "7" "309" "7" "c.309+7C>T" "r.(=)" "p.(=)" "" "0000506279" "00018334" "30" "375" "0" "375" "0" "c.375T>C" "r.(?)" "p.(Tyr125=)" "" "0000506280" "00018334" "30" "385" "-9" "385" "-9" "c.385-9A>G" "r.(=)" "p.(=)" "" "0000506281" "00018334" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Cys158Tyr)" "" "0000506282" "00018334" "10" "576" "7" "576" "7" "c.576+7G>C" "r.(=)" "p.(=)" "" "0000506283" "00018334" "10" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Ser213=)" "" "0000506284" "00018334" "30" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ile217Val)" "" "0000506285" "00018334" "10" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Asp242=)" "" "0000506286" "00018334" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Asp242=)" "" "0000506287" "00018334" "50" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Glu243Lys)" "" "0000506288" "00018334" "50" "745" "0" "745" "0" "c.745T>C" "r.(?)" "p.(Ser249Pro)" "" "0000506289" "00018334" "10" "774" "-9" "774" "-8" "c.774-9_774-8insG" "r.(=)" "p.(=)" "" "0000506290" "00018334" "30" "828" "0" "828" "0" "c.828A>G" "r.(?)" "p.(Arg276=)" "" "0000506291" "00018334" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000506292" "00018334" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000506293" "00018334" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000506294" "00018334" "10" "849" "-8" "849" "-8" "c.849-8T>C" "r.(=)" "p.(=)" "" "0000506295" "00018334" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000506296" "00018334" "30" "1005" "13" "1005" "13" "c.1005+13A>G" "r.(=)" "p.(=)" "" "0000506297" "00018334" "30" "1006" "-12" "1006" "-12" "c.1006-12C>T" "r.(=)" "p.(=)" "" "0000506298" "00018334" "90" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "0000506299" "00018334" "90" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "0000506300" "00018334" "30" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Leu370=)" "" "0000506301" "00018334" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asp378=)" "" "0000506302" "00018334" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000506303" "00018334" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000506304" "00018334" "30" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Ser406=)" "" "0000506305" "00018334" "30" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Ser406=)" "" "0000506306" "00018334" "10" "1293" "-14" "1293" "-14" "c.1293-14A>G" "r.(=)" "p.(=)" "" "0000506307" "00018334" "30" "1296" "0" "1296" "0" "c.1296C>A" "r.(?)" "p.(Gly432=)" "" "0000506308" "00018334" "50" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Pro448Leu)" "" "0000506309" "00018334" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000506310" "00018334" "50" "1392" "0" "1392" "0" "c.1392C>A" "r.(?)" "p.(His464Gln)" "" "0000506311" "00018334" "10" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Pro465=)" "" "0000506312" "00018334" "30" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Pro465=)" "" "0000506313" "00018334" "50" "1396" "0" "1396" "0" "c.1396C>G" "r.(?)" "p.(Pro466Ala)" "" "0000506314" "00018334" "50" "1396" "0" "1396" "0" "c.1396C>G" "r.(?)" "p.(Pro466Ala)" "" "0000506315" "00018334" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Glu468Lys)" "" "0000506316" "00018334" "30" "1476" "4" "1476" "4" "c.1476+4C>T" "r.spl?" "p.?" "" "0000506317" "00018334" "50" "1476" "5" "1476" "5" "c.1476+5G>A" "r.spl?" "p.?" "" "0000506318" "00018334" "50" "1477" "-8" "1477" "-8" "c.1477-8C>A" "r.(=)" "p.(=)" "" "0000506319" "00018334" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Ala511Val)" "" "0000506320" "00018334" "30" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Asp516=)" "" "0000506321" "00018334" "30" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Asp516=)" "" "0000506322" "00018334" "50" "1574" "0" "1574" "0" "c.1574C>G" "r.(?)" "p.(Ser525Cys)" "" "0000506324" "00018334" "10" "1612" "13" "1612" "13" "c.1612+13A>G" "r.(=)" "p.(=)" "" "0000506325" "00018334" "30" "1612" "13" "1612" "13" "c.1612+13A>G" "r.(=)" "p.(=)" "" "0000506326" "00018334" "10" "1612" "14" "1612" "14" "c.1612+14T>C" "r.(=)" "p.(=)" "" "0000506327" "00018334" "70" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "" "0000506328" "00018334" "10" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Gly592=)" "" "0000506329" "00018334" "10" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(His621=)" "" "0000506330" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000506331" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000506332" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000506333" "00018334" "30" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000506334" "00018334" "10" "2046" "0" "2046" "0" "c.2046A>G" "r.(?)" "p.(Thr682=)" "" "0000506335" "00018334" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Gly710=)" "" "0000506336" "00018334" "30" "2203" "13" "2203" "13" "c.2203+13C>T" "r.(=)" "p.(=)" "" "0000506337" "00018334" "30" "2204" "-7" "2204" "-7" "c.2204-7C>G" "r.(=)" "p.(=)" "" "0000506338" "00018334" "10" "2253" "0" "2253" "0" "c.2253T>G" "r.(?)" "p.(Thr751=)" "" "0000506339" "00018334" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Arg848=)" "" "0000506340" "00018334" "10" "2574" "0" "2574" "0" "c.2574G>A" "r.(?)" "p.(Thr858=)" "" "0000506341" "00018334" "30" "2574" "0" "2574" "0" "c.2574G>A" "r.(?)" "p.(Thr858=)" "" "0000506342" "00018334" "10" "2574" "0" "2574" "0" "c.2574G>A" "r.(?)" "p.(Thr858=)" "" "0000506343" "00018334" "30" "2613" "5" "2613" "6" "c.2613+5_2613+6insTTGC" "r.spl?" "p.?" "" "0000506344" "00018334" "10" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Glu920=)" "" "0000506345" "00018334" "30" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Glu920=)" "" "0000506346" "00018334" "50" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929Cys)" "" "0000506347" "00018334" "50" "2828" "0" "2828" "0" "c.2828T>C" "r.(?)" "p.(Leu943Ser)" "" "0000506348" "00018334" "30" "2871" "0" "2871" "0" "c.2871T>G" "r.(?)" "p.(Ala957=)" "" "0000506349" "00018334" "30" "2935" "0" "2935" "0" "c.2935G>T" "r.(?)" "p.(Ala979Ser)" "" "0000506350" "00018334" "10" "2973" "0" "2973" "0" "c.2973A>G" "r.(?)" "p.(Ser991=)" "" "0000506351" "00018334" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000506352" "00018334" "10" "3030" "0" "3030" "0" "c.3030T>C" "r.(?)" "p.(Asp1010=)" "" "0000506353" "00018334" "10" "3030" "0" "3030" "0" "c.3030T>C" "r.(?)" "p.(Asp1010=)" "" "0000506354" "00018334" "30" "3030" "0" "3030" "0" "c.3030T>C" "r.(?)" "p.(Asp1010=)" "" "0000506355" "00018334" "30" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000506356" "00018334" "30" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000506357" "00018334" "50" "3127" "0" "3127" "0" "c.3127A>G" "r.(?)" "p.(Lys1043Glu)" "" "0000506358" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000506359" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000506360" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000506361" "00018334" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Gly1061Ser)" "" "0000506362" "00018334" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Gly1061Ser)" "" "0000506363" "00018334" "50" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Lys)" "" "0000506364" "00018334" "30" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Lys)" "" "0000506365" "00018334" "10" "3372" "0" "3372" "0" "c.3372G>A" "r.(?)" "p.(Pro1124=)" "" "0000506366" "00018334" "10" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000506367" "00018334" "30" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000506368" "00018334" "10" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000506369" "00018334" "30" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000506370" "00018334" "30" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000506371" "00018334" "30" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000506372" "00018334" "50" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Glu1170Lys)" "" "0000506373" "00018334" "30" "3599" "-19" "3599" "-19" "c.3599-19del" "r.(=)" "p.(=)" "" "0000506374" "00018334" "10" "3599" "-9" "3599" "-9" "c.3599-9del" "r.(=)" "p.(=)" "" "0000506375" "00018334" "30" "3696" "0" "3696" "0" "c.3696A>G" "r.(?)" "p.(Leu1232=)" "" "0000506376" "00018334" "50" "3883" "0" "3883" "0" "c.3883A>G" "r.(?)" "p.(Ser1295Gly)" "" "0000506377" "00018334" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Asn1296=)" "" "0000506378" "00018334" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Asn1296=)" "" "0000506379" "00018334" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Asn1296=)" "" "0000506380" "00018334" "30" "3951" "0" "3951" "0" "c.3951G>A" "r.(?)" "p.(Thr1317=)" "" "0000506381" "00018334" "50" "4010" "0" "4010" "0" "c.4010A>G" "r.(?)" "p.(Tyr1337Cys)" "" "0000506382" "00018334" "50" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Val1359Ala)" "" "0000506383" "00018334" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Val1359Ala)" "" "0000506384" "00018334" "50" "4250" "0" "4251" "0" "c.4250_4251del" "r.(?)" "p.(Tyr1417Ter)" "" "0000506385" "00018334" "30" "4359" "0" "4359" "0" "c.4359T>C" "r.(?)" "p.(Tyr1453=)" "" "0000506386" "00018334" "30" "4359" "0" "4359" "0" "c.4359T>C" "r.(?)" "p.(Tyr1453=)" "" "0000506387" "00018334" "50" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482His)" "" "0000506388" "00018334" "30" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482His)" "" "0000506389" "00018334" "50" "4538" "0" "4538" "0" "c.4538C>T" "r.(?)" "p.(Ala1513Val)" "" "0000506390" "00018334" "30" "4596" "12" "4596" "12" "c.4596+12G>A" "r.(=)" "p.(=)" "" "0000506391" "00018334" "30" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Pro1535=)" "" "0000506392" "00018334" "50" "4642" "0" "4642" "0" "c.4642A>G" "r.(?)" "p.(Thr1548Ala)" "" "0000506393" "00018334" "50" "4692" "0" "4692" "0" "c.4692G>A" "r.(?)" "p.(Met1564Ile)" "" "0000506394" "00018334" "30" "4692" "0" "4692" "0" "c.4692G>A" "r.(?)" "p.(Met1564Ile)" "" "0000506395" "00018334" "30" "4692" "0" "4692" "0" "c.4692G>A" "r.(?)" "p.(Met1564Ile)" "" "0000506396" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000506397" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000506398" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000506399" "00018334" "30" "4752" "0" "4752" "0" "c.4752G>A" "r.(?)" "p.(Pro1584=)" "" "0000506400" "00018334" "50" "4950" "0" "4950" "0" "c.4950G>T" "r.(?)" "p.(Leu1650Phe)" "" "0000506401" "00018334" "50" "5096" "0" "5096" "0" "c.5096G>A" "r.(?)" "p.(Arg1699His)" "" "0000506402" "00018334" "50" "5177" "0" "5177" "0" "c.5177T>A" "r.(?)" "p.(Ile1726Asn)" "" "0000506403" "00018334" "30" "5448" "0" "5448" "0" "c.5448C>T" "r.(?)" "p.(Phe1816=)" "" "0000506404" "00018334" "50" "5542" "0" "5542" "0" "c.5542C>T" "r.(?)" "p.(Pro1848Ser)" "" "0000506405" "00018334" "10" "5586" "0" "5586" "0" "c.5586C>T" "r.(?)" "p.(Asp1862=)" "" "0000506406" "00018334" "50" "5591" "0" "5591" "0" "c.5591T>C" "r.(?)" "p.(Leu1864Pro)" "" "0000506407" "00018334" "30" "5591" "0" "5591" "0" "c.5591T>C" "r.(?)" "p.(Leu1864Pro)" "" "0000506408" "00018334" "50" "5653" "0" "5653" "0" "c.5653G>T" "r.(?)" "p.(Gly1885Trp)" "" "0000506409" "00018334" "30" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000506410" "00018334" "30" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Ser)" "" "0000506411" "00018334" "30" "5721" "0" "5721" "0" "c.5721C>T" "r.(?)" "p.(Cys1907=)" "" "0000506412" "00018334" "50" "5762" "0" "5762" "0" "c.5762G>A" "r.(?)" "p.(Arg1921Gln)" "" "0000506414" "00018334" "30" "6022" "5" "6022" "5" "c.6022+5G>A" "r.spl?" "p.?" "" "0000506415" "00018334" "50" "6022" "5" "6022" "5" "c.6022+5G>A" "r.spl?" "p.?" "" "0000506416" "00018334" "30" "6022" "5" "6022" "5" "c.6022+5G>A" "r.spl?" "p.?" "" "0000506417" "00018334" "50" "6022" "5" "6022" "5" "c.6022+5G>A" "r.spl?" "p.?" "" "0000506418" "00018334" "50" "6079" "0" "6079" "0" "c.6079G>A" "r.(?)" "p.(Gly2027Arg)" "" "0000506419" "00018334" "30" "6138" "0" "6138" "0" "c.6138A>G" "r.(?)" "p.(Lys2046=)" "" "0000506420" "00018334" "30" "6336" "0" "6336" "0" "c.6336C>T" "r.(?)" "p.(Ser2112=)" "" "0000506421" "00018334" "50" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(Val2113Met)" "" "0000506422" "00018334" "50" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(Val2113Met)" "" "0000506423" "00018334" "30" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(Val2113Met)" "" "0000506424" "00018334" "30" "6337" "0" "6337" "0" "c.6337G>A" "r.(?)" "p.(Val2113Met)" "" "0000506425" "00018334" "10" "6440" "20" "6440" "20" "c.6440+20C>T" "r.(=)" "p.(=)" "" "0000506426" "00018334" "30" "6440" "20" "6440" "20" "c.6440+20C>T" "r.(=)" "p.(=)" "" "0000506427" "00018334" "50" "6484" "0" "6484" "0" "c.6484A>C" "r.(?)" "p.(Met2162Leu)" "" "0000506428" "00018334" "30" "6484" "0" "6484" "0" "c.6484A>C" "r.(?)" "p.(Met2162Leu)" "" "0000506429" "00018334" "30" "6484" "0" "6484" "0" "c.6484A>C" "r.(?)" "p.(Met2162Leu)" "" "0000506430" "00018334" "30" "6555" "8" "6555" "8" "c.6555+8C>T" "r.(=)" "p.(=)" "" "0000506431" "00018334" "90" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(His2217Tyr)" "" "0000506432" "00018334" "30" "6689" "-9" "6689" "-9" "c.6689-9A>C" "r.(=)" "p.(=)" "" "0000506433" "00018334" "10" "6738" "0" "6738" "0" "c.6738G>T" "r.(?)" "p.(Ser2246=)" "" "0000506435" "00018334" "10" "6825" "0" "6825" "0" "c.6825A>G" "r.(?)" "p.(Gln2275=)" "" "0000506436" "00018334" "50" "6825" "0" "6825" "0" "c.6825A>T" "r.(?)" "p.(Gln2275His)" "" "0000506437" "00018334" "30" "6834" "0" "6834" "0" "c.6834G>C" "r.(?)" "p.(Gln2278His)" "" "0000506438" "00018334" "10" "6928" "4" "6928" "4" "c.6928+4G>A" "r.spl?" "p.?" "" "0000506439" "00018334" "50" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000506440" "00018334" "30" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000506441" "00018334" "50" "7009" "0" "7009" "0" "c.7009G>A" "r.(?)" "p.(Gly2337Arg)" "" "0000506442" "00018334" "70" "7159" "0" "7159" "0" "c.7159G>A" "r.(?)" "p.(Ala2387Thr)" "" "0000506443" "00018334" "10" "7222" "-12" "7222" "-12" "c.7222-12dup" "r.(=)" "p.(=)" "" "0000506444" "00018334" "30" "7222" "-8" "7222" "-8" "c.7222-8C>T" "r.(=)" "p.(=)" "" "0000506445" "00018334" "30" "7222" "-8" "7222" "-8" "c.7222-8del" "r.(=)" "p.(=)" "" "0000506446" "00018334" "30" "7290" "0" "7290" "0" "c.7290A>G" "r.(?)" "p.(Gly2430=)" "" "0000506447" "00018334" "30" "7343" "-9" "7343" "-9" "c.7343-9C>T" "r.(=)" "p.(=)" "" "0000506448" "00018334" "10" "7488" "0" "7488" "0" "c.7488C>T" "r.(?)" "p.(Leu2496=)" "" "0000506450" "00018334" "50" "7543" "0" "7543" "0" "c.7543G>A" "r.(?)" "p.(Ala2515Thr)" "" "0000506451" "00018334" "50" "7553" "0" "7553" "0" "c.7553G>A" "r.(?)" "p.(Arg2518Gln)" "" "0000506452" "00018334" "50" "7559" "0" "7559" "0" "c.7559T>G" "r.(?)" "p.(Leu2520Arg)" "" "0000506453" "00018334" "30" "7619" "0" "7619" "0" "c.7619A>G" "r.(?)" "p.(His2540Arg)" "" "0000506454" "00018334" "10" "7866" "0" "7866" "0" "c.7866C>T" "r.(?)" "p.(Cys2622=)" "" "0000506455" "00018334" "50" "7877" "0" "7877" "0" "c.7877G>T" "r.(?)" "p.(Gly2626Val)" "" "0000506456" "00018334" "50" "8048" "0" "8048" "0" "c.8048C>T" "r.(?)" "p.(Ser2683Leu)" "" "0000506457" "00018334" "50" "8063" "0" "8063" "0" "c.8063T>A" "r.(?)" "p.(Met2688Lys)" "" "0000506458" "00018334" "50" "8145" "0" "8145" "0" "c.8145G>T" "r.(?)" "p.(Glu2715Asp)" "" "0000506459" "00018334" "50" "8147" "0" "8147" "0" "c.8147A>T" "r.(?)" "p.(Lys2716Ile)" "" "0000506460" "00018334" "50" "8147" "0" "8147" "0" "c.8147A>T" "r.(?)" "p.(Lys2716Ile)" "" "0000506461" "00018334" "50" "8147" "0" "8147" "0" "c.8147A>T" "r.(?)" "p.(Lys2716Ile)" "" "0000506462" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000506463" "00018334" "30" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000506464" "00018334" "50" "8314" "0" "8314" "0" "c.8314C>T" "r.(?)" "p.(Arg2772Cys)" "" "0000506465" "00018334" "30" "8436" "15" "8436" "15" "c.8436+15C>T" "r.(=)" "p.(=)" "" "0000506466" "00018334" "10" "8437" "-7" "8437" "-7" "c.8437-7dup" "r.(=)" "p.(=)" "" "0000506467" "00018334" "10" "8437" "-7" "8437" "-7" "c.8437-7dup" "r.(=)" "p.(=)" "" "0000506469" "00018334" "50" "8443" "0" "8443" "0" "c.8443G>A" "r.(?)" "p.(Val2815Met)" "" "0000506470" "00018334" "10" "8448" "0" "8448" "0" "c.8448C>T" "r.(?)" "p.(Asp2816=)" "" "0000506471" "00018334" "30" "8643" "0" "8643" "0" "c.8643G>A" "r.(?)" "p.(Glu2881=)" "" "0000506472" "00018334" "10" "8820" "0" "8820" "0" "c.8820C>T" "r.(?)" "p.(Ile2940=)" "" "0000506473" "00018334" "30" "8831" "-9" "8831" "-9" "c.8831-9A>C" "r.(=)" "p.(=)" "" "0000506474" "00018334" "10" "8873" "0" "8873" "0" "c.8873A>G" "r.(?)" "p.(Gln2958Arg)" "" "0000506475" "00018334" "10" "9067" "12" "9067" "12" "c.9067+12C>T" "r.(=)" "p.(=)" "" "0000506476" "00018334" "30" "9190" "0" "9190" "0" "c.9190G>A" "r.(?)" "p.(Ala3064Thr)" "" "0000506477" "00018334" "50" "9220" "0" "9220" "0" "c.9220A>G" "r.(?)" "p.(Asn3074Asp)" "" "0000506478" "00018334" "50" "9259" "0" "9259" "0" "c.9259C>T" "r.(?)" "p.(Pro3087Ser)" "" "0000506479" "00018334" "50" "9397" "0" "9397" "0" "c.9397A>G" "r.(?)" "p.(Ile3133Val)" "" "0000506480" "00018334" "30" "9449" "8" "9449" "8" "c.9449+8T>A" "r.(=)" "p.(=)" "" "0000506481" "00018334" "30" "9450" "-3" "9450" "-3" "c.9450-3T>C" "r.spl?" "p.?" "" "0000506482" "00018334" "30" "9655" "0" "9655" "0" "c.9655G>A" "r.(?)" "p.(Val3219Met)" "" "0000506483" "00018334" "10" "9666" "0" "9666" "0" "c.9666C>T" "r.(?)" "p.(Ala3222=)" "" "0000506484" "00018334" "50" "9743" "0" "9743" "0" "c.9743G>A" "r.(?)" "p.(Arg3248His)" "" "0000506485" "00018334" "10" "9867" "0" "9867" "0" "c.9867G>A" "r.(?)" "p.(Gly3289=)" "" "0000506486" "00018334" "10" "9963" "0" "9963" "0" "c.9963G>A" "r.(?)" "p.(Pro3321=)" "" "0000506487" "00018334" "30" "10017" "0" "10017" "0" "c.10017C>T" "r.(?)" "p.(His3339=)" "" "0000506488" "00018334" "70" "10079" "0" "10079" "0" "c.10079C>T" "r.(?)" "p.(Thr3360Ile)" "" "0000506489" "00018334" "10" "10143" "-18" "10143" "-18" "c.10143-18A>G" "r.(=)" "p.(=)" "" "0000506490" "00018334" "10" "10230" "20" "10230" "20" "c.10230+20T>C" "r.(=)" "p.(=)" "" "0000506491" "00018334" "10" "10230" "20" "10230" "20" "c.10230+20T>C" "r.(=)" "p.(=)" "" "0000506492" "00018334" "10" "10230" "20" "10230" "20" "c.10230+20T>C" "r.(=)" "p.(=)" "" "0000506493" "00018334" "30" "10230" "20" "10230" "20" "c.10230+20T>C" "r.(=)" "p.(=)" "" "0000506494" "00018334" "10" "10231" "-5" "10231" "-5" "c.10231-5C>T" "r.spl?" "p.?" "" "0000506495" "00018334" "30" "10231" "-5" "10231" "-5" "c.10231-5C>T" "r.spl?" "p.?" "" "0000506496" "00018334" "30" "10231" "-4" "10231" "-4" "c.10231-4T>C" "r.spl?" "p.?" "" "0000506497" "00018334" "30" "10231" "-4" "10231" "-4" "c.10231-4T>C" "r.spl?" "p.?" "" "0000506498" "00018334" "50" "10261" "0" "10261" "0" "c.10261G>C" "r.(?)" "p.(Val3421Leu)" "" "0000506499" "00018334" "10" "10324" "-4" "10324" "-4" "c.10324-4A>G" "r.spl?" "p.?" "" "0000506500" "00018334" "30" "10370" "0" "10370" "0" "c.10370A>C" "r.(?)" "p.(Asp3457Ala)" "" "0000506501" "00018334" "10" "10503" "0" "10503" "0" "c.10503C>T" "r.(?)" "p.(Thr3501=)" "" "0000506502" "00018334" "10" "10523" "0" "10523" "0" "c.10523T>C" "r.(?)" "p.(Ile3508Thr)" "" "0000506503" "00018334" "30" "10523" "0" "10523" "0" "c.10523T>C" "r.(?)" "p.(Ile3508Thr)" "" "0000506504" "00018334" "30" "10800" "0" "10800" "0" "c.10800A>C" "r.(?)" "p.(Val3600=)" "" "0000506505" "00018334" "30" "10800" "0" "10802" "0" "c.10800_10802delinsCTT" "r.(?)" "p.(Ala3601Phe)" "" "0000506506" "00018334" "30" "10801" "0" "10801" "0" "c.10801G>T" "r.(?)" "p.(Ala3601Ser)" "" "0000506507" "00018334" "50" "10804" "0" "10804" "0" "c.10804T>A" "r.(?)" "p.(Cys3602Ser)" "" "0000506508" "00018334" "50" "10816" "0" "10816" "0" "c.10816G>A" "r.(?)" "p.(Ala3606Thr)" "" "0000506509" "00018334" "30" "11181" "0" "11181" "0" "c.11181G>A" "r.(?)" "p.(Gln3727=)" "" "0000506510" "00018334" "50" "11182" "0" "11182" "0" "c.11182C>A" "r.(?)" "p.(Gln3728Lys)" "" "0000506511" "00018334" "50" "11329" "0" "11329" "0" "c.11329A>G" "r.(?)" "p.(Met3777Val)" "" "0000506512" "00018334" "30" "11477" "-20" "11477" "-20" "c.11477-20T>A" "r.(=)" "p.(=)" "" "0000506513" "00018334" "10" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000506514" "00018334" "30" "11766" "0" "11766" "0" "c.11766G>A" "r.(?)" "p.(Glu3922=)" "" "0000506515" "00018334" "30" "11859" "0" "11859" "0" "c.11859T>C" "r.(?)" "p.(His3953=)" "" "0000506516" "00018334" "10" "11880" "16" "11880" "16" "c.11880+16G>A" "r.(=)" "p.(=)" "" "0000506517" "00018334" "50" "12196" "0" "12196" "0" "c.12196C>T" "r.(?)" "p.(Leu4066Phe)" "" "0000506518" "00018334" "30" "12207" "0" "12207" "0" "c.12207T>C" "r.(?)" "p.(Cys4069=)" "" "0000506519" "00018334" "30" "12207" "0" "12207" "0" "c.12207T>C" "r.(?)" "p.(Cys4069=)" "" "0000506520" "00018334" "70" "12308" "0" "12308" "0" "c.12308C>T" "r.(?)" "p.(Thr4103Ile)" "" "0000506521" "00018334" "90" "12441" "0" "12441" "0" "c.12441G>T" "r.(?)" "p.(Arg4147Ser)" "" "0000506522" "00018334" "50" "12520" "0" "12520" "0" "c.12520T>C" "r.(?)" "p.(Phe4174Leu)" "" "0000506523" "00018334" "50" "12589" "0" "12589" "0" "c.12589A>G" "r.(?)" "p.(Ile4197Val)" "" "0000506524" "00018334" "70" "12620" "0" "12620" "0" "c.12620C>T" "r.(?)" "p.(Ser4207Leu)" "" "0000506525" "00018334" "30" "12640" "0" "12640" "0" "c.12640A>C" "r.(?)" "p.(Arg4214=)" "" "0000506526" "00018334" "10" "12660" "0" "12660" "0" "c.12660A>G" "r.(?)" "p.(Glu4220=)" "" "0000506527" "00018334" "50" "12663" "0" "12663" "0" "c.12663C>T" "r.(?)" "p.(Ser4221=)" "" "0000506528" "00018334" "50" "12919" "0" "12919" "0" "c.12919C>T" "r.(?)" "p.(Arg4307Cys)" "" "0000506529" "00018334" "30" "12919" "0" "12919" "0" "c.12919C>T" "r.(?)" "p.(Arg4307Cys)" "" "0000506530" "00018334" "50" "12956" "0" "12956" "0" "c.12956T>G" "r.(?)" "p.(Val4319Gly)" "" "0000506531" "00018334" "30" "13093" "0" "13093" "0" "c.13093G>A" "r.(?)" "p.(Asp4365Asn)" "" "0000506532" "00018334" "30" "13137" "0" "13137" "0" "c.13137C>A" "r.(?)" "p.(Ile4379=)" "" "0000506533" "00018334" "50" "13213" "0" "13213" "0" "c.13213C>G" "r.(?)" "p.(Leu4405Val)" "" "0000506534" "00018334" "10" "13260" "14" "13260" "14" "c.13260+14A>G" "r.(=)" "p.(=)" "" "0000506535" "00018334" "50" "13279" "0" "13279" "0" "c.13279G>T" "r.(?)" "p.(Glu4427Ter)" "" "0000506537" "00018334" "30" "13564" "-41" "13564" "-41" "c.13564-41A>G" "r.(=)" "p.(=)" "" "0000506538" "00018334" "10" "13566" "0" "13566" "0" "c.13566C>T" "r.(?)" "p.(Val4522=)" "" "0000506540" "00018334" "50" "13583" "0" "13583" "0" "c.13583T>C" "r.(?)" "p.(Val4528Ala)" "" "0000506541" "00018334" "30" "13593" "0" "13593" "0" "c.13593G>A" "r.(?)" "p.(Lys4531=)" "" "0000506542" "00018334" "10" "13656" "0" "13656" "0" "c.13656T>C" "r.(?)" "p.(His4552=)" "" "0000506543" "00018334" "70" "13892" "0" "13892" "0" "c.13892A>T" "r.(?)" "p.(Asp4631Val)" "" "0000506544" "00018334" "30" "13956" "9" "13956" "12" "c.13956+9_13956+12del" "r.(=)" "p.(=)" "" "0000506545" "00018334" "30" "13957" "-5" "13957" "-5" "c.13957-5C>G" "r.spl?" "p.?" "" "0000506547" "00018334" "50" "13969" "0" "13982" "0" "c.13969_13982dup" "r.(?)" "p.(Gly4662MetfsTer42)" "" "0000506548" "00018334" "10" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0000506549" "00018334" "30" "14029" "0" "14029" "0" "c.14029C>T" "r.(?)" "p.(Leu4677=)" "" "0000506550" "00018334" "30" "14090" "14" "14090" "14" "c.14090+14C>T" "r.(=)" "p.(=)" "" "0000506551" "00018334" "10" "14091" "-13" "14091" "-11" "c.14091-13_14091-11dup" "r.(=)" "p.(=)" "" "0000506552" "00018334" "10" "14091" "-11" "14091" "-11" "c.14091-11dup" "r.(=)" "p.(=)" "" "0000506553" "00018334" "30" "14152" "-15" "14152" "-15" "c.14152-15G>A" "r.(=)" "p.(=)" "" "0000506554" "00018334" "10" "14299" "-12" "14299" "-12" "c.14299-12A>G" "r.(=)" "p.(=)" "" "0000506555" "00018334" "10" "14352" "0" "14352" "0" "c.14352G>A" "r.(?)" "p.(Val4784=)" "" "0000506556" "00018334" "30" "14484" "0" "14484" "0" "c.14484G>T" "r.(?)" "p.(Gly4828=)" "" "0000506557" "00018334" "70" "14608" "0" "14608" "0" "c.14608T>G" "r.(?)" "p.(Phe4870Val)" "" "0000506558" "00018334" "30" "14658" "0" "14658" "0" "c.14658C>G" "r.(?)" "p.(Thr4886=)" "" "0000506559" "00018334" "10" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(=)" "p.(=)" "" "0000506560" "00018334" "30" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(=)" "p.(=)" "" "0000506561" "00018334" "30" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(=)" "p.(=)" "" "0000506562" "00018334" "30" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(=)" "p.(=)" "" "0000506563" "00018334" "30" "14757" "-7" "14757" "-6" "c.14757-7_14757-6delinsAT" "r.(=)" "p.(=)" "" "0000506564" "00018334" "10" "14757" "-6" "14757" "-6" "c.14757-6C>T" "r.(=)" "p.(=)" "" "0000506565" "00018334" "30" "14757" "-6" "14757" "-6" "c.14757-6C>T" "r.(=)" "p.(=)" "" "0000506566" "00018334" "30" "14757" "-6" "14757" "-6" "c.14757-6C>T" "r.(=)" "p.(=)" "" "0000506567" "00018334" "30" "14757" "-6" "14757" "-6" "c.14757-6C>T" "r.(=)" "p.(=)" "" "0000506568" "00018334" "10" "14809" "-20" "14809" "-20" "c.14809-20C>T" "r.(=)" "p.(=)" "" "0000594729" "00018334" "70" "7160" "0" "7160" "0" "c.7160C>T" "r.(?)" "p.(Ala2387Val)" "" "0000604582" "00018334" "50" "12230" "0" "12230" "0" "c.12230C>A" "r.(?)" "p.(Thr4077Asn)" "" "0000604583" "00018334" "50" "7511" "0" "7511" "0" "c.7511C>T" "r.(?)" "p.(Thr2504Met)" "" "0000604584" "00018334" "50" "7511" "0" "7511" "0" "c.7511C>T" "r.(?)" "p.(Thr2504Met)" "" "0000604585" "00018334" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000605477" "00018334" "50" "309" "1" "309" "5" "c.309+1_309+5del" "r.spl?" "p.?" "" "0000605478" "00018334" "30" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Ser)" "" "0000605479" "00018334" "30" "464" "-8" "464" "-8" "c.464-8A>T" "r.(=)" "p.(=)" "" "0000605480" "00018334" "30" "577" "-14" "577" "-14" "c.577-14G>A" "r.(=)" "p.(=)" "" "0000605481" "00018334" "30" "577" "-5" "577" "-4" "c.577-5_577-4insTT" "r.spl?" "p.?" "" "0000605482" "00018334" "50" "577" "-4" "577" "-2" "c.577-4_577-2delinsTTATG" "r.spl?" "p.?" "" "0000605483" "00018334" "30" "577" "-3" "577" "-3" "c.577-3C>T" "r.spl?" "p.?" "" "0000605484" "00018334" "50" "577" "-2" "577" "-2" "c.577-2A>G" "r.spl?" "p.?" "" "0000605485" "00018334" "30" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Leu370=)" "" "0000605486" "00018334" "30" "1110" "0" "1110" "0" "c.1110A>G" "r.(?)" "p.(Leu370=)" "" "0000605487" "00018334" "30" "1203" "0" "1203" "0" "c.1203T>C" "r.(?)" "p.(Asp401=)" "" "0000605488" "00018334" "30" "1476" "4" "1476" "4" "c.1476+4C>T" "r.spl?" "p.?" "" "0000605489" "00018334" "10" "1477" "-11" "1477" "-11" "c.1477-11dup" "r.(=)" "p.(=)" "" "0000605490" "00018334" "50" "2050" "0" "2050" "0" "c.2050C>A" "r.(?)" "p.(Pro684Thr)" "" "0000605491" "00018334" "10" "2204" "-7" "2204" "-7" "c.2204-7C>G" "r.(=)" "p.(=)" "" "0000605492" "00018334" "70" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769Gln)" "" "0000605493" "00018334" "10" "2397" "-6" "2397" "-6" "c.2397-6C>T" "r.(=)" "p.(=)" "" "0000605494" "00018334" "50" "2423" "0" "2423" "0" "c.2423A>G" "r.(?)" "p.(His808Arg)" "" "0000605495" "00018334" "30" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(Leu924=)" "" "0000605496" "00018334" "30" "2922" "0" "2922" "0" "c.2922T>C" "r.(?)" "p.(Ser974=)" "" "0000605497" "00018334" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000605498" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000605499" "00018334" "30" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Lys)" "" "0000605501" "00018334" "10" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Ala1136Val)" "" "0000605502" "00018334" "50" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Gly1275Ser)" "" "0000605503" "00018334" "50" "3827" "0" "3827" "0" "c.3827C>T" "r.(?)" "p.(Thr1276Ile)" "" "0000605504" "00018334" "10" "4196" "0" "4196" "0" "c.4196C>A" "r.(?)" "p.(Thr1399Lys)" "" "0000605505" "00018334" "50" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482His)" "" "0000605506" "00018334" "30" "4538" "0" "4538" "0" "c.4538C>T" "r.(?)" "p.(Ala1513Val)" "" "0000605507" "00018334" "50" "4571" "0" "4571" "0" "c.4571G>A" "r.(?)" "p.(Gly1524Asp)" "" "0000605508" "00018334" "10" "4911" "-19" "4911" "-19" "c.4911-19A>G" "r.(=)" "p.(=)" "" "0000605509" "00018334" "30" "5181" "0" "5181" "0" "c.5181C>A" "r.(?)" "p.(Val1727=)" "" "0000605510" "00018334" "50" "5330" "0" "5330" "0" "c.5330A>G" "r.(?)" "p.(Gln1777Arg)" "" "0000605511" "00018334" "30" "5487" "0" "5487" "0" "c.5487G>T" "r.(?)" "p.(Leu1829=)" "" "0000605512" "00018334" "30" "5619" "0" "5619" "0" "c.5619A>G" "r.(?)" "p.(Ala1873=)" "" "0000605513" "00018334" "10" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000605514" "00018334" "30" "5756" "0" "5756" "0" "c.5756G>A" "r.(?)" "p.(Arg1919Gln)" "" "0000605515" "00018334" "50" "5920" "0" "5920" "0" "c.5920A>C" "r.(?)" "p.(Asn1974His)" "" "0000605516" "00018334" "50" "6230" "0" "6230" "0" "c.6230A>G" "r.(?)" "p.(Asp2077Gly)" "" "0000605517" "00018334" "10" "6441" "-19" "6441" "-19" "c.6441-19C>T" "r.(=)" "p.(=)" "" "0000605518" "00018334" "30" "6793" "-17" "6793" "-16" "c.6793-17_6793-16dup" "r.(=)" "p.(=)" "" "0000605519" "00018334" "50" "6878" "0" "6878" "0" "c.6878T>C" "r.(?)" "p.(Val2293Ala)" "" "0000605520" "00018334" "30" "6981" "0" "6981" "0" "c.6981G>A" "r.(?)" "p.(Arg2327=)" "" "0000605521" "00018334" "10" "7314" "0" "7314" "0" "c.7314C>T" "r.(?)" "p.(Ile2438=)" "" "0000605522" "00018334" "10" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0000605523" "00018334" "50" "7490" "0" "7490" "0" "c.7490G>A" "r.(?)" "p.(Arg2497Gln)" "" "0000605524" "00018334" "50" "7771" "0" "7773" "0" "c.7771_7773del" "r.(?)" "p.(Arg2591del)" "" "0000605525" "00018334" "50" "7784" "0" "7784" "0" "c.7784A>G" "r.(?)" "p.(Asp2595Gly)" "" "0000605526" "00018334" "30" "7966" "-18" "7966" "-18" "c.7966-18G>T" "r.(=)" "p.(=)" "" "0000605527" "00018334" "50" "8145" "0" "8145" "0" "c.8145G>T" "r.(?)" "p.(Glu2715Asp)" "" "0000605528" "00018334" "50" "8366" "0" "8366" "0" "c.8366T>C" "r.(?)" "p.(Ile2789Thr)" "" "0000605529" "00018334" "10" "8437" "-7" "8437" "-7" "c.8437-7dup" "r.(=)" "p.(=)" "" "0000605530" "00018334" "30" "9085" "0" "9085" "0" "c.9085A>G" "r.(?)" "p.(Ile3029Val)" "" "0000605531" "00018334" "50" "9190" "0" "9190" "0" "c.9190G>A" "r.(?)" "p.(Ala3064Thr)" "" "0000605532" "00018334" "30" "9215" "0" "9215" "0" "c.9215T>A" "r.(?)" "p.(Met3072Lys)" "" "0000605533" "00018334" "30" "9250" "0" "9250" "0" "c.9250C>A" "r.(?)" "p.(Arg3084=)" "" "0000605534" "00018334" "30" "9450" "-3" "9450" "-3" "c.9450-3T>C" "r.spl?" "p.?" "" "0000605535" "00018334" "30" "9458" "0" "9458" "0" "c.9458C>T" "r.(?)" "p.(Ser3153Phe)" "" "0000605536" "00018334" "30" "9560" "0" "9560" "0" "c.9560A>G" "r.(?)" "p.(Lys3187Arg)" "" "0000605537" "00018334" "50" "9988" "0" "9988" "0" "c.9988G>A" "r.(?)" "p.(Ala3330Thr)" "" "0000605538" "00018334" "30" "10221" "0" "10221" "0" "c.10221G>A" "r.(?)" "p.(Ser3407=)" "" "0000605539" "00018334" "10" "10254" "0" "10254" "0" "c.10254C>T" "r.(?)" "p.(Asn3418=)" "" "0000605540" "00018334" "30" "10554" "16" "10554" "16" "c.10554+16T>C" "r.(=)" "p.(=)" "" "0000605541" "00018334" "50" "10640" "0" "10640" "0" "c.10640C>T" "r.(?)" "p.(Thr3547Met)" "" "0000605542" "00018334" "50" "10899" "0" "10901" "0" "c.10899_10901del" "r.(?)" "p.(Glu3633_His3634delinsAsp)" "" "0000605543" "00018334" "10" "10941" "0" "10941" "0" "c.10941T>G" "r.(?)" "p.(Pro3647=)" "" "0000605544" "00018334" "30" "11496" "0" "11496" "0" "c.11496C>T" "r.(?)" "p.(Asp3832=)" "" "0000605545" "00018334" "10" "11963" "-11" "11963" "-11" "c.11963-11T>C" "r.(=)" "p.(=)" "" "0000605546" "00018334" "10" "11988" "0" "11988" "0" "c.11988C>T" "r.(?)" "p.(Gly3996=)" "" "0000605547" "00018334" "70" "12013" "0" "12013" "0" "c.12013G>A" "r.(?)" "p.(Glu4005Lys)" "" "0000605548" "00018334" "30" "12153" "0" "12153" "0" "c.12153G>T" "r.(?)" "p.(Ala4051=)" "" "0000605549" "00018334" "30" "12705" "0" "12705" "0" "c.12705C>T" "r.(?)" "p.(Phe4235=)" "" "0000605550" "00018334" "30" "13233" "0" "13233" "0" "c.13233C>T" "r.(?)" "p.(Pro4411=)" "" "0000605552" "00018334" "70" "13528" "0" "13528" "0" "c.13528G>A" "r.(?)" "p.(Ala4510Thr)" "" "0000605553" "00018334" "10" "13783" "-21" "13783" "-21" "c.13783-21G>A" "r.(=)" "p.(=)" "" "0000605554" "00018334" "10" "13783" "-6" "13783" "-6" "c.13783-6A>G" "r.(=)" "p.(=)" "" "0000605555" "00018334" "50" "13791" "0" "13791" "0" "c.13791G>T" "r.(?)" "p.(Leu4597Phe)" "" "0000605556" "00018334" "30" "13809" "0" "13809" "0" "c.13809A>G" "r.(?)" "p.(Glu4603=)" "" "0000605557" "00018334" "70" "13913" "3" "13913" "3" "c.13913+3G>T" "r.spl?" "p.?" "" "0000605558" "00018334" "10" "13913" "12" "13913" "12" "c.13913+12A>C" "r.(=)" "p.(=)" "" "0000605559" "00018334" "70" "13958" "0" "13958" "0" "c.13958T>C" "r.(?)" "p.(Val4653Ala)" "" "0000605560" "00018334" "70" "13969" "0" "13982" "0" "c.13969_13982dup" "r.(?)" "p.(Gly4662MetfsTer42)" "" "0000605561" "00018334" "30" "13976" "0" "13976" "0" "c.13976A>G" "r.(?)" "p.(Glu4659Gly)" "" "0000605562" "00018334" "30" "14151" "0" "14151" "0" "c.14151C>T" "r.(?)" "p.(Asn4717=)" "" "0000605563" "00018334" "30" "14152" "-15" "14152" "-15" "c.14152-15G>A" "r.(=)" "p.(=)" "" "0000605564" "00018334" "90" "14173" "0" "14173" "0" "c.14173T>C" "r.(?)" "p.(Tyr4725His)" "" "0000605565" "00018334" "90" "14726" "0" "14726" "0" "c.14726C>T" "r.(?)" "p.(Thr4909Ile)" "" "0000605566" "00018334" "10" "14809" "-15" "14809" "-15" "c.14809-15C>G" "r.(=)" "p.(=)" "" "0000605567" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(Arg4959Gln)" "" "0000605568" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(Arg4959Gln)" "" "0000605569" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(Arg4959Gln)" "" "0000605570" "00018334" "90" "14876" "0" "14876" "0" "c.14876G>A" "r.(?)" "p.(Arg4959Gln)" "" "0000620572" "00018334" "50" "141" "0" "141" "0" "c.141T>G" "r.(?)" "p.(Cys47Trp)" "" "0000620573" "00018334" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ser381=)" "" "0000620574" "00018334" "30" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Ser767=)" "" "0000620575" "00018334" "10" "2922" "0" "2922" "0" "c.2922T>C" "r.(?)" "p.(Ser974=)" "" "0000620576" "00018334" "50" "5755" "0" "5755" "0" "c.5755C>T" "r.(?)" "p.(Arg1919Trp)" "" "0000620577" "00018334" "30" "6689" "-3" "6689" "-3" "c.6689-3T>C" "r.spl?" "p.?" "" "0000620578" "00018334" "50" "7676" "0" "7676" "0" "c.7676G>A" "r.(?)" "p.(Cys2559Tyr)" "" "0000620579" "00018334" "50" "8470" "0" "8470" "0" "c.8470C>T" "r.(?)" "p.(Arg2824Trp)" "" "0000620580" "00018334" "50" "9094" "0" "9094" "0" "c.9094T>G" "r.(?)" "p.(Cys3032Gly)" "" "0000620581" "00018334" "50" "9348" "0" "9348" "0" "c.9348G>T" "r.(?)" "p.(Gln3116His)" "" "0000620582" "00018334" "30" "9672" "0" "9672" "0" "c.9672C>T" "r.(?)" "p.(Ser3224=)" "" "0000620583" "00018334" "30" "12207" "0" "12207" "0" "c.12207T>C" "r.(?)" "p.(Cys4069=)" "" "0000620584" "00018334" "10" "13425" "0" "13425" "0" "c.13425G>A" "r.(?)" "p.(Val4475=)" "" "0000620585" "00018334" "10" "13566" "0" "13566" "0" "c.13566C>T" "r.(?)" "p.(Val4522=)" "" "0000620586" "00018334" "50" "14866" "0" "14866" "0" "c.14866G>A" "r.(?)" "p.(Asp4956Asn)" "" "0000626474" "00018334" "50" "1396" "0" "1396" "0" "c.1396C>G" "r.(?)" "p.(Pro466Ala)" "" "0000626475" "00018334" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000626476" "00018334" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Ile2095Thr)" "" "0000626477" "00018334" "50" "4693" "0" "4693" "0" "c.4693C>G" "r.(?)" "p.(Pro1565Ala)" "" "0000626478" "00018334" "50" "8554" "0" "8554" "0" "c.8554T>C" "r.(?)" "p.(Trp2852Arg)" "" "0000626482" "00018334" "30" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Glu1127Gly)" "" "0000626483" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000626484" "00018334" "50" "12230" "0" "12230" "0" "c.12230C>A" "r.(?)" "p.(Thr4077Asn)" "" "0000626485" "00018334" "50" "14757" "-7" "14757" "-7" "c.14757-7T>A" "r.(?)" "p.(?)" "" "0000626486" "00018334" "50" "7511" "0" "7511" "0" "c.7511C>T" "r.(?)" "p.(Thr2504Met)" "" "0000626487" "00018334" "50" "8746" "0" "8746" "0" "c.8746del" "r.(?)" "p.(Ser2916Leufs*55)" "" "0000626488" "00018334" "50" "8162" "0" "8162" "0" "c.8162T>C" "r.(?)" "p.(Ile2721Thr)" "" "0000626489" "00018334" "50" "8762" "0" "8763" "0" "c.8762_8763insAT" "r.(?)" "p.(Phe2921Leufs*51)" "" "0000626490" "00018334" "50" "3890" "0" "3890" "0" "c.3890C>G" "r.(?)" "p.(Thr1297Ser)" "" "0000626491" "00018334" "50" "13645" "0" "13650" "0" "c.13645_13650del" "r.(?)" "p.(Ser4550_Ser4551del)" "" "0000626492" "00018334" "50" "11521" "0" "11521" "0" "c.11521C>T" "r.(?)" "p.(Arg3841*)" "" "0000647629" "00018334" "70" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Lys)" "" "0000647630" "00018334" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Arg414Cys)" "" "0000647631" "00018334" "50" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051Cys)" "" "0000647632" "00018334" "30" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000647633" "00018334" "30" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Ser)" "" "0000647634" "00018334" "70" "6598" "0" "6598" "0" "c.6598C>T" "r.(?)" "p.(Leu2200Phe)" "" "0000647635" "00018334" "70" "7385" "0" "7385" "0" "c.7385C>T" "r.(?)" "p.(Pro2462Leu)" "" "0000647636" "00018334" "10" "11557" "19" "11557" "19" "c.11557+19C>T" "r.(=)" "p.(=)" "" "0000647637" "00018334" "70" "12283" "0" "12283" "0" "c.12283G>A" "r.(?)" "p.(Gly4095Ser)" "" "0000647639" "00018334" "70" "13822" "0" "13822" "0" "c.13822C>T" "r.(?)" "p.(Arg4608Trp)" "" "0000647640" "00018334" "90" "14704" "0" "14704" "0" "c.14704C>T" "r.(?)" "p.(Pro4902Ser)" "" "0000647641" "00018334" "70" "14804" "0" "14804" "0" "c.14804G>C" "r.(?)" "p.(Gly4935Ala)" "" "0000647642" "00018334" "50" "15034" "0" "15034" "0" "c.*130G>A" "r.(=)" "p.(=)" "" "0000652969" "00018334" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000653956" "00018334" "30" "577" "-14" "577" "-14" "c.577-14G>A" "r.(=)" "p.(=)" "" "0000653957" "00018334" "30" "848" "8" "848" "8" "c.848+8G>C" "r.(=)" "p.(=)" "" "0000653958" "00018334" "30" "1005" "6" "1005" "6" "c.1005+6A>G" "r.(=)" "p.(=)" "" "0000653959" "00018334" "30" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Pro465=)" "" "0000653960" "00018334" "50" "2732" "0" "2732" "0" "c.2732A>G" "r.(?)" "p.(Asn911Ser)" "" "0000653961" "00018334" "50" "3883" "0" "3883" "0" "c.3883A>G" "r.(?)" "p.(Ser1295Gly)" "" "0000653962" "00018334" "30" "4692" "0" "4692" "0" "c.4692G>A" "r.(?)" "p.(Met1564Ile)" "" "0000653963" "00018334" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000653964" "00018334" "30" "5588" "0" "5588" "0" "c.5588C>T" "r.(?)" "p.(Thr1863Met)" "" "0000653965" "00018334" "10" "6726" "0" "6726" "0" "c.6726G>A" "r.(?)" "p.(Val2242=)" "" "0000653966" "00018334" "30" "6792" "16" "6792" "16" "c.6792+16G>T" "r.(=)" "p.(=)" "" "0000653967" "00018334" "50" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000653968" "00018334" "50" "7373" "0" "7373" "0" "c.7373C>T" "r.(?)" "p.(Ala2458Val)" "" "0000653969" "00018334" "30" "9450" "-3" "9450" "-3" "c.9450-3T>C" "r.spl?" "p.?" "" "0000653970" "00018334" "50" "12244" "0" "12244" "0" "c.12244G>A" "r.(?)" "p.(Glu4082Lys)" "" "0000653971" "00018334" "30" "13665" "0" "13665" "0" "c.13665C>T" "r.(?)" "p.(Ile4555=)" "" "0000653972" "00018334" "30" "14655" "0" "14655" "0" "c.14655G>A" "r.(?)" "p.(Glu4885=)" "" "0000667295" "00018334" "70" "14864" "0" "14864" "0" "c.14864G>A" "r.(?)" "p.(Gly4955Glu)" "" "0000667441" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000669007" "00018334" "30" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Ser)" "" "0000669008" "00018334" "50" "15034" "0" "15034" "0" "c.*130G>A" "r.(=)" "p.(=)" "" "0000675733" "00018334" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Arg235=)" "" "0000675734" "00018334" "90" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "0000675735" "00018334" "90" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "0000675736" "00018334" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000675737" "00018334" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Arg414Cys)" "" "0000675738" "00018334" "30" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Pro465=)" "" "0000675739" "00018334" "30" "1518" "0" "1518" "0" "c.1518C>A" "r.(?)" "p.(His506Gln)" "" "0000675740" "00018334" "50" "2279" "0" "2279" "0" "c.2279A>C" "r.(?)" "p.(Asp760Ala)" "" "0000675741" "00018334" "10" "2301" "0" "2301" "0" "c.2301G>T" "r.(?)" "p.(Ser767=)" "" "0000675742" "00018334" "50" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Pro815Leu)" "" "0000675743" "00018334" "50" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(His877Tyr)" "" "0000675744" "00018334" "30" "2642" "0" "2642" "0" "c.2642T>G" "r.(?)" "p.(Ile881Arg)" "" "0000675745" "00018334" "50" "3320" "0" "3320" "0" "c.3320C>T" "r.(?)" "p.(Thr1107Met)" "" "0000675746" "00018334" "30" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Lys1141=)" "" "0000675747" "00018334" "30" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Asn1169=)" "" "0000675748" "00018334" "50" "3517" "0" "3517" "0" "c.3517A>G" "r.(?)" "p.(Met1173Val)" "" "0000675749" "00018334" "50" "3890" "0" "3890" "0" "c.3890C>T" "r.(?)" "p.(Thr1297Ile)" "" "0000675750" "00018334" "30" "4160" "7" "4160" "7" "c.4160+7A>G" "r.(=)" "p.(=)" "" "0000675751" "00018334" "10" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0000675752" "00018334" "50" "4541" "0" "4541" "0" "c.4541C>T" "r.(?)" "p.(Ala1514Val)" "" "0000675753" "00018334" "30" "4596" "6" "4596" "6" "c.4596+6C>T" "r.(=)" "p.(=)" "" "0000675754" "00018334" "30" "4652" "0" "4652" "0" "c.4652A>G" "r.(?)" "p.(Asn1551Ser)" "" "0000675755" "00018334" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000675756" "00018334" "50" "5822" "0" "5822" "0" "c.5822G>A" "r.(?)" "p.(Arg1941His)" "" "0000675757" "00018334" "50" "7859" "0" "7859" "0" "c.7859A>G" "r.(?)" "p.(Tyr2620Cys)" "" "0000675758" "00018334" "70" "7906" "0" "7906" "0" "c.7906G>A" "r.(?)" "p.(Glu2636Lys)" "" "0000675759" "00018334" "50" "8471" "0" "8471" "0" "c.8471G>A" "r.(?)" "p.(Arg2824Gln)" "" "0000675760" "00018334" "50" "8795" "0" "8795" "0" "c.8795A>G" "r.(?)" "p.(Tyr2932Cys)" "" "0000675761" "00018334" "50" "9018" "-14" "9018" "-14" "c.9018-14T>A" "r.(=)" "p.(=)" "" "0000675762" "00018334" "50" "9259" "0" "9259" "0" "c.9259C>T" "r.(?)" "p.(Pro3087Ser)" "" "0000675763" "00018334" "50" "9352" "0" "9352" "0" "c.9352G>A" "r.(?)" "p.(Gly3118Arg)" "" "0000675764" "00018334" "30" "9619" "0" "9619" "0" "c.9619A>G" "r.(?)" "p.(Asn3207Asp)" "" "0000675765" "00018334" "30" "9672" "0" "9672" "0" "c.9672C>T" "r.(?)" "p.(Ser3224=)" "" "0000675766" "00018334" "30" "10041" "0" "10041" "0" "c.10041C>T" "r.(?)" "p.(Asp3347=)" "" "0000675767" "00018334" "30" "10914" "0" "10914" "0" "c.10914T>C" "r.(?)" "p.(Asp3638=)" "" "0000675768" "00018334" "30" "14575" "0" "14575" "0" "c.14575T>C" "r.(?)" "p.(Leu4859=)" "" "0000675769" "00018334" "30" "14591" "-9" "14591" "-9" "c.14591-9del" "r.(=)" "p.(=)" "" "0000688091" "00018334" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ile217Val)" "" "0000688092" "00018334" "30" "2574" "0" "2574" "0" "c.2574G>C" "r.(?)" "p.(Thr858=)" "" "0000688093" "00018334" "30" "3512" "0" "3512" "0" "c.3512A>G" "r.(?)" "p.(His1171Arg)" "" "0000688094" "00018334" "50" "4457" "0" "4457" "0" "c.4457A>G" "r.(?)" "p.(Tyr1486Cys)" "" "0000688095" "00018334" "10" "4596" "12" "4596" "12" "c.4596+12G>A" "r.(=)" "p.(=)" "" "0000688096" "00018334" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Pro1578=)" "" "0000688097" "00018334" "30" "5619" "0" "5619" "0" "c.5619A>G" "r.(?)" "p.(Ala1873=)" "" "0000688098" "00018334" "30" "6393" "0" "6393" "0" "c.6393T>C" "r.(?)" "p.(Ser2131=)" "" "0000688099" "00018334" "30" "7513" "-9" "7513" "-9" "c.7513-9C>A" "r.(=)" "p.(=)" "" "0000688100" "00018334" "50" "8173" "0" "8173" "0" "c.8173G>A" "r.(?)" "p.(Ala2725Thr)" "" "0000688101" "00018334" "10" "8436" "16" "8436" "16" "c.8436+16G>C" "r.(=)" "p.(=)" "" "0000688102" "00018334" "30" "8643" "0" "8643" "0" "c.8643G>A" "r.(?)" "p.(Glu2881=)" "" "0000688103" "00018334" "30" "11766" "0" "11766" "0" "c.11766G>A" "r.(?)" "p.(Glu3922=)" "" "0000688104" "00018334" "30" "13783" "-7" "13783" "-7" "c.13783-7T>C" "r.(=)" "p.(=)" "" "0000688105" "00018334" "10" "14152" "-15" "14152" "-15" "c.14152-15G>A" "r.(=)" "p.(=)" "" "0000688106" "00018334" "70" "14162" "0" "14162" "0" "c.14162A>C" "r.(?)" "p.(Tyr4721Ser)" "" "0000688107" "00018334" "50" "14272" "0" "14272" "0" "c.14272T>A" "r.(?)" "p.(Ser4758Thr)" "" "0000701667" "00018334" "50" "2334" "0" "2334" "0" "c.2334G>A" "r.(?)" "p.(Met778Ile)" "" "0000701668" "00018334" "50" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051His)" "" "0000701669" "00018334" "50" "3596" "0" "3596" "0" "c.3596A>G" "r.(?)" "p.(Asp1199Gly)" "" "0000701670" "00018334" "50" "5261" "0" "5261" "0" "c.5261G>C" "r.(?)" "p.(Ser1754Thr)" "" "0000701671" "00018334" "50" "8309" "0" "8309" "0" "c.8309T>C" "r.(?)" "p.(Ile2770Thr)" "" "0000701672" "00018334" "50" "13541" "0" "13541" "0" "c.13541A>G" "r.(?)" "p.(Asn4514Ser)" "" "0000714880" "00018334" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Cys)" "" "0000717317" "00018334" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Glu254Lys)" "" "0000717318" "00018334" "10" "1006" "-12" "1006" "-12" "c.1006-12C>T" "r.(=)" "p.(=)" "" "0000717319" "00018334" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asp378=)" "" "0000717320" "00018334" "30" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Ala440Val)" "" "0000717321" "00018334" "50" "1476" "5" "1476" "5" "c.1476+5G>A" "r.spl?" "p.?" "" "0000717322" "00018334" "30" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Val663Ile)" "" "0000717323" "00018334" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Arg)" "" "0000717324" "00018334" "30" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Ser756Asn)" "" "0000717325" "00018334" "50" "2423" "0" "2423" "0" "c.2423A>G" "r.(?)" "p.(His808Arg)" "" "0000717326" "00018334" "10" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Gly818=)" "" "0000717327" "00018334" "10" "2613" "16" "2613" "16" "c.2613+16C>T" "r.(=)" "p.(=)" "" "0000717328" "00018334" "30" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(Leu924=)" "" "0000717329" "00018334" "10" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000717330" "00018334" "30" "4761" "0" "4761" "0" "c.4761C>T" "r.(?)" "p.(His1587=)" "" "0000717331" "00018334" "30" "5571" "0" "5571" "0" "c.5571G>A" "r.(?)" "p.(Pro1857=)" "" "0000717332" "00018334" "50" "5923" "0" "5923" "0" "c.5923A>G" "r.(?)" "p.(Met1975Val)" "" "0000717333" "00018334" "50" "5923" "0" "5923" "0" "c.5923A>G" "r.(?)" "p.(Met1975Val)" "" "0000717334" "00018334" "50" "5978" "0" "5978" "0" "c.5978G>A" "r.(?)" "p.(Arg1993His)" "" "0000717335" "00018334" "50" "6370" "0" "6370" "0" "c.6370G>A" "r.(?)" "p.(Gly2124Ser)" "" "0000717336" "00018334" "50" "6536" "0" "6536" "0" "c.6536T>C" "r.(?)" "p.(Leu2179Pro)" "" "0000717337" "00018334" "50" "6764" "0" "6764" "0" "c.6764T>A" "r.(?)" "p.(Leu2255*)" "" "0000717338" "00018334" "50" "6764" "0" "6764" "0" "c.6764T>A" "r.(?)" "p.(Leu2255*)" "" "0000717339" "00018334" "30" "7494" "0" "7494" "0" "c.7494G>A" "r.(?)" "p.(Ala2498=)" "" "0000717340" "00018334" "50" "7697" "0" "7697" "0" "c.7697G>C" "r.(?)" "p.(Arg2566Pro)" "" "0000717341" "00018334" "50" "7697" "0" "7697" "0" "c.7697G>C" "r.(?)" "p.(Arg2566Pro)" "" "0000717342" "00018334" "50" "9095" "0" "9095" "0" "c.9095G>C" "r.(?)" "p.(Cys3032Ser)" "" "0000717343" "00018334" "50" "9861" "0" "9861" "0" "c.9861C>G" "r.(?)" "p.(Asn3287Lys)" "" "0000717344" "00018334" "30" "10323" "13" "10323" "13" "c.10323+13dup" "r.(=)" "p.(=)" "" "0000717345" "00018334" "30" "10381" "0" "10381" "0" "c.10381A>G" "r.(?)" "p.(Met3461Val)" "" "0000717346" "00018334" "50" "10817" "0" "10817" "0" "c.10817C>T" "r.(?)" "p.(Ala3606Val)" "" "0000717347" "00018334" "50" "11206" "0" "11206" "0" "c.11206G>A" "r.(?)" "p.(Ala3736Thr)" "" "0000717348" "00018334" "30" "11476" "6" "11476" "6" "c.11476+6A>G" "r.(=)" "p.(=)" "" "0000717349" "00018334" "50" "13490" "0" "13490" "0" "c.13490G>A" "r.(?)" "p.(Arg4497His)" "" "0000717350" "00018334" "10" "14091" "-12" "14091" "-11" "c.14091-12_14091-11dup" "r.(=)" "p.(=)" "" "0000717351" "00018334" "10" "14481" "0" "14481" "0" "c.14481C>A" "r.(?)" "p.(Ile4827=)" "" "0000717352" "00018334" "10" "14757" "-4" "14757" "-4" "c.14757-4G>A" "r.spl?" "p.?" "" "0000734740" "00018334" "30" "15621" "0" "15621" "0" "c.*717G>C" "r.(=)" "p.(=)" "" "0000734741" "00018334" "30" "15627" "0" "15627" "0" "c.*723G>C" "r.(=)" "p.(=)" "" "0000799214" "00018334" "10" "1292" "19" "1292" "19" "c.1292+19G>A" "r.(=)" "p.(=)" "" "0000799215" "00018334" "30" "2951" "0" "2951" "0" "c.2951G>C" "r.(?)" "p.(Ser984Thr)" "" "0000799216" "00018334" "30" "3168" "0" "3168" "0" "c.3168G>A" "r.(?)" "p.(Thr1056=)" "" "0000799217" "00018334" "30" "3244" "0" "3244" "0" "c.3244G>A" "r.(?)" "p.(Gly1082Arg)" "" "0000799218" "00018334" "50" "3800" "0" "3800" "0" "c.3800A>T" "r.(?)" "p.(His1267Leu)" "" "0000799219" "00018334" "30" "3849" "0" "3849" "0" "c.3849A>G" "r.(?)" "p.(Leu1283=)" "" "0000799220" "00018334" "10" "4094" "0" "4094" "0" "c.4094C>T" "r.(?)" "p.(Ala1365Val)" "" "0000799221" "00018334" "30" "4125" "0" "4125" "0" "c.4125T>C" "r.(?)" "p.(Asp1375=)" "" "0000799222" "00018334" "50" "4148" "0" "4148" "0" "c.4148G>A" "r.(?)" "p.(Arg1383His)" "" "0000799223" "00018334" "30" "4652" "0" "4652" "0" "c.4652A>G" "r.(?)" "p.(Asn1551Ser)" "" "0000799224" "00018334" "30" "7065" "0" "7065" "0" "c.7065G>A" "r.(?)" "p.(Glu2355=)" "" "0000799225" "00018334" "50" "7157" "0" "7157" "0" "c.7157A>G" "r.(?)" "p.(Asn2386Ser)" "" "0000799226" "00018334" "50" "9619" "0" "9619" "0" "c.9619A>G" "r.(?)" "p.(Asn3207Asp)" "" "0000799227" "00018334" "50" "10816" "0" "10816" "0" "c.10816G>A" "r.(?)" "p.(Ala3606Thr)" "" "0000799228" "00018334" "30" "11246" "-4" "11246" "-4" "c.11246-4T>C" "r.spl?" "p.?" "" "0000799229" "00018334" "30" "11634" "0" "11634" "0" "c.11634A>G" "r.(?)" "p.(Leu3878=)" "" "0000799230" "00018334" "10" "12111" "0" "12111" "0" "c.12111C>T" "r.(?)" "p.(Pro4037=)" "" "0000799231" "00018334" "30" "12213" "0" "12213" "0" "c.12213G>A" "r.(?)" "p.(Glu4071=)" "" "0000799232" "00018334" "30" "12759" "0" "12759" "0" "c.12759G>A" "r.(?)" "p.(Leu4253=)" "" "0000799233" "00018334" "30" "13666" "0" "13666" "0" "c.13666G>A" "r.(?)" "p.(Ala4556Thr)" "" "0000799234" "00018334" "50" "13872" "0" "13872" "0" "c.13872T>A" "r.(?)" "p.(Asp4624Glu)" "" "0000799235" "00018334" "90" "14251" "0" "14251" "0" "c.14251A>G" "r.(?)" "p.(Lys4751Glu)" "" "0000799236" "00018334" "10" "14727" "0" "14727" "0" "c.14727T>A" "r.(?)" "p.(Thr4909=)" "" "0000848617" "00018334" "30" "310" "-23" "310" "-21" "c.310-23_310-21del" "r.(=)" "p.(=)" "" "0000848618" "00018334" "10" "676" "18" "676" "18" "c.676+18A>G" "r.(=)" "p.(=)" "" "0000848619" "00018334" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(His261Arg)" "" "0000848620" "00018334" "50" "817" "0" "817" "0" "c.817T>A" "r.(?)" "p.(Ser273Thr)" "" "0000848622" "00018334" "50" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Glu701Lys)" "" "0000848623" "00018334" "10" "2204" "-16" "2204" "-16" "c.2204-16G>T" "r.(=)" "p.(=)" "" "0000848624" "00018334" "30" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Ser756Asn)" "" "0000848625" "00018334" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Gly1080Ser)" "" "0000848626" "00018334" "30" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Gly1179=)" "" "0000848627" "00018334" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Val1359Ala)" "" "0000848628" "00018334" "50" "4855" "0" "4855" "0" "c.4855G>A" "r.(?)" "p.(Val1619Met)" "" "0000848629" "00018334" "30" "5151" "0" "5151" "0" "c.5151C>T" "r.(?)" "p.(Ala1717=)" "" "0000848630" "00018334" "50" "5509" "0" "5509" "0" "c.5509G>A" "r.(?)" "p.(Glu1837Lys)" "" "0000848631" "00018334" "30" "5591" "0" "5591" "0" "c.5591T>C" "r.(?)" "p.(Leu1864Pro)" "" "0000848632" "00018334" "30" "5651" "0" "5651" "0" "c.5651A>T" "r.(?)" "p.(Lys1884Met)" "" "0000848633" "00018334" "50" "5822" "0" "5822" "0" "c.5822G>A" "r.(?)" "p.(Arg1941His)" "" "0000848634" "00018334" "50" "6005" "0" "6005" "0" "c.6005A>G" "r.(?)" "p.(Asp2002Gly)" "" "0000848635" "00018334" "30" "6138" "0" "6138" "0" "c.6138A>G" "r.(?)" "p.(Lys2046=)" "" "0000848636" "00018334" "50" "6555" "6" "6555" "6" "c.6555+6G>A" "r.(=)" "p.(=)" "" "0000848637" "00018334" "50" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000848638" "00018334" "70" "6973" "0" "6973" "0" "c.6973A>G" "r.(?)" "p.(Ile2325Val)" "" "0000848639" "00018334" "10" "7038" "0" "7038" "0" "c.7038A>C" "r.(?)" "p.(Ala2346=)" "" "0000848640" "00018334" "10" "8831" "-9" "8831" "-9" "c.8831-9A>C" "r.(=)" "p.(=)" "" "0000848642" "00018334" "50" "9778" "0" "9778" "0" "c.9778C>T" "r.(?)" "p.(Arg3260Trp)" "" "0000848643" "00018334" "50" "10318" "0" "10318" "0" "c.10318T>A" "r.(?)" "p.(Ser3440Thr)" "" "0000848644" "00018334" "50" "10517" "0" "10517" "0" "c.10517G>A" "r.(?)" "p.(Arg3506Gln)" "" "0000848645" "00018334" "50" "10882" "0" "10882" "0" "c.10882T>G" "r.(?)" "p.(Trp3628Gly)" "" "0000848646" "00018334" "30" "11040" "-8" "11040" "-8" "c.11040-8T>C" "r.(=)" "p.(=)" "" "0000848647" "00018334" "10" "11477" "-20" "11477" "-20" "c.11477-20T>A" "r.(=)" "p.(=)" "" "0000848648" "00018334" "10" "11835" "0" "11835" "0" "c.11835C>T" "r.(?)" "p.(Val3945=)" "" "0000848649" "00018334" "30" "12159" "0" "12159" "0" "c.12159G>A" "r.(?)" "p.(Glu4053=)" "" "0000848650" "00018334" "50" "12235" "0" "12235" "0" "c.12235G>T" "r.(?)" "p.(Asp4079Tyr)" "" "0000848651" "00018334" "30" "12552" "0" "12552" "0" "c.12552G>A" "r.(?)" "p.(Glu4184=)" "" "0000848652" "00018334" "50" "12663" "0" "12663" "0" "c.12663C>T" "r.(?)" "p.(Ser4221=)" "" "0000848653" "00018334" "30" "12705" "0" "12705" "0" "c.12705C>T" "r.(?)" "p.(Phe4235=)" "" "0000848654" "00018334" "50" "13093" "0" "13093" "0" "c.13093G>A" "r.(?)" "p.(Asp4365Asn)" "" "0000848655" "00018334" "30" "13782" "80" "13782" "80" "c.13782+80G>A" "r.(=)" "p.(=)" "" "0000848656" "00018334" "30" "13913" "7" "13913" "7" "c.13913+7A>G" "r.(=)" "p.(=)" "" "0000848657" "00018334" "30" "14152" "-18" "14152" "-18" "c.14152-18C>T" "r.(=)" "p.(=)" "" "0000848658" "00018334" "90" "14311" "0" "14311" "0" "c.14311G>A" "r.(?)" "p.(Val4771Ile)" "" "0000857375" "00018334" "50" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "" "0000857376" "00018334" "10" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Ser451=)" "" "0000857377" "00018334" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Val498Met)" "" "0000857378" "00018334" "10" "2204" "-11" "2204" "-11" "c.2204-11C>T" "r.(=)" "p.(=)" "" "0000857379" "00018334" "10" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Asn1296=)" "" "0000857380" "00018334" "50" "6082" "0" "6082" "0" "c.6082C>T" "r.(?)" "p.(Arg2028Cys)" "" "0000857381" "00018334" "50" "9575" "0" "9575" "0" "c.9575G>T" "r.(?)" "p.(Arg3192Ile)" "" "0000857382" "00018334" "10" "10726" "-7" "10726" "-7" "c.10726-7A>G" "r.(=)" "p.(=)" "" "0000857383" "00018334" "30" "10838" "4" "10838" "4" "c.10838+4G>A" "r.spl?" "p.?" "" "0000857384" "00018334" "30" "11403" "-16" "11403" "-16" "c.11403-16T>C" "r.(=)" "p.(=)" "" "0000857385" "00018334" "30" "12678" "0" "12678" "0" "c.12678G>A" "r.(?)" "p.(Pro4226=)" "" "0000857386" "00018334" "30" "14757" "-19" "14757" "-19" "c.14757-19A>G" "r.(=)" "p.(=)" "" "0000883267" "00018334" "10" "463" "18" "463" "18" "c.463+18C>T" "r.(=)" "p.(=)" "" "0000883268" "00018334" "30" "576" "7" "576" "7" "c.576+7G>C" "r.(=)" "p.(=)" "" "0000883269" "00018334" "30" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Leu370=)" "" "0000883270" "00018334" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Met)" "" "0000883271" "00018334" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000883272" "00018334" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0000883273" "00018334" "50" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(His747Arg)" "" "0000883274" "00018334" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Pro906Leu)" "" "0000883275" "00018334" "50" "2828" "0" "2828" "0" "c.2828T>C" "r.(?)" "p.(Leu943Ser)" "" "0000883276" "00018334" "30" "2967" "0" "2967" "0" "c.2967C>A" "r.(?)" "p.(Thr989=)" "" "0000883277" "00018334" "10" "2973" "0" "2973" "0" "c.2973A>G" "r.(?)" "p.(Ser991=)" "" "0000883278" "00018334" "30" "3030" "0" "3030" "0" "c.3030T>C" "r.(?)" "p.(Asp1010=)" "" "0000883279" "00018334" "50" "3397" "0" "3397" "0" "c.3397C>T" "r.(?)" "p.(Arg1133Cys)" "" "0000883280" "00018334" "50" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414Trp)" "" "0000883281" "00018334" "50" "4565" "0" "4565" "0" "c.4565C>T" "r.(?)" "p.(Ala1522Val)" "" "0000883282" "00018334" "30" "4990" "0" "4990" "0" "c.4990G>A" "r.(?)" "p.(Val1664Ile)" "" "0000883283" "00018334" "30" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Thr1733=)" "" "0000883284" "00018334" "10" "5517" "0" "5517" "0" "c.5517G>A" "r.(?)" "p.(Leu1839=)" "" "0000883285" "00018334" "50" "5827" "0" "5827" "0" "c.5827C>T" "r.(?)" "p.(Arg1943*)" "" "0000883286" "00018334" "30" "6440" "20" "6440" "20" "c.6440+20C>T" "r.(=)" "p.(=)" "" "0000883287" "00018334" "30" "6555" "8" "6555" "8" "c.6555+8C>T" "r.(=)" "p.(=)" "" "0000883288" "00018334" "30" "6726" "0" "6726" "0" "c.6726G>A" "r.(?)" "p.(Val2242=)" "" "0000883289" "00018334" "70" "7009" "0" "7009" "0" "c.7009G>A" "r.(?)" "p.(Gly2337Arg)" "" "0000883290" "00018334" "50" "7343" "0" "7343" "0" "c.7343A>T" "r.(?)" "p.(Asp2448Val)" "" "0000883291" "00018334" "50" "7348" "0" "7348" "0" "c.7348A>G" "r.(?)" "p.(Asn2450Asp)" "" "0000883292" "00018334" "50" "7489" "0" "7489" "0" "c.7489C>T" "r.(?)" "p.(Arg2497Trp)" "" "0000883293" "00018334" "30" "7494" "0" "7494" "0" "c.7494G>A" "r.(?)" "p.(Ala2498=)" "" "0000883294" "00018334" "30" "8028" "0" "8028" "0" "c.8028G>A" "r.(?)" "p.(Leu2676=)" "" "0000883295" "00018334" "50" "8063" "0" "8063" "0" "c.8063T>A" "r.(?)" "p.(Met2688Lys)" "" "0000883296" "00018334" "50" "8063" "0" "8063" "0" "c.8063T>A" "r.(?)" "p.(Met2688Lys)" "" "0000883297" "00018334" "50" "8063" "0" "8063" "0" "c.8063T>A" "r.(?)" "p.(Met2688Lys)" "" "0000883298" "00018334" "50" "8621" "0" "8621" "0" "c.8621A>G" "r.(?)" "p.(Tyr2874Cys)" "" "0000883299" "00018334" "30" "9190" "0" "9190" "0" "c.9190G>A" "r.(?)" "p.(Ala3064Thr)" "" "0000883300" "00018334" "30" "9963" "0" "9963" "0" "c.9963G>A" "r.(?)" "p.(Pro3321=)" "" "0000883301" "00018334" "30" "9988" "0" "9988" "0" "c.9988G>A" "r.(?)" "p.(Ala3330Thr)" "" "0000883302" "00018334" "10" "10231" "-4" "10231" "-4" "c.10231-4T>C" "r.spl?" "p.?" "" "0000883303" "00018334" "10" "10776" "0" "10776" "0" "c.10776C>T" "r.(?)" "p.(Ser3592=)" "" "0000883304" "00018334" "30" "11246" "-4" "11246" "-4" "c.11246-4T>C" "r.spl?" "p.?" "" "0000883305" "00018334" "30" "11402" "7" "11402" "7" "c.11402+7A>T" "r.(=)" "p.(=)" "" "0000883306" "00018334" "10" "11963" "-11" "11963" "-11" "c.11963-11T>C" "r.(=)" "p.(=)" "" "0000883307" "00018334" "30" "12189" "0" "12189" "0" "c.12189G>A" "r.(?)" "p.(Thr4063=)" "" "0000883308" "00018334" "50" "12250" "0" "12250" "0" "c.12250G>A" "r.(?)" "p.(Val4084Ile)" "" "0000883309" "00018334" "30" "12273" "0" "12273" "0" "c.12273G>A" "r.(?)" "p.(Ala4091=)" "" "0000883310" "00018334" "70" "12551" "0" "12551" "0" "c.12551A>G" "r.(?)" "p.(Glu4184Gly)" "" "0000883311" "00018334" "50" "12919" "0" "12919" "0" "c.12919C>T" "r.(?)" "p.(Arg4307Cys)" "" "0000883312" "00018334" "50" "13759" "0" "13759" "0" "c.13759A>C" "r.(?)" "p.(Ile4587Leu)" "" "0000883313" "00018334" "10" "13783" "-6" "13783" "-6" "c.13783-6A>G" "r.(=)" "p.(=)" "" "0000883314" "00018334" "10" "13913" "12" "13913" "12" "c.13913+12A>C" "r.(=)" "p.(=)" "" "0000883315" "00018334" "10" "13977" "0" "13977" "0" "c.13977G>A" "r.(?)" "p.(Glu4659=)" "" "0000883316" "00018334" "10" "14029" "0" "14029" "0" "c.14029C>T" "r.(?)" "p.(Leu4677=)" "" "0000883317" "00018334" "50" "14055" "0" "14055" "0" "c.14055G>T" "r.(?)" "p.(Lys4685Asn)" "" "0000883318" "00018334" "50" "14132" "0" "14132" "0" "c.14132G>A" "r.(?)" "p.(Gly4711Glu)" "" "0000883319" "00018334" "30" "14220" "0" "14220" "0" "c.14220C>G" "r.(?)" "p.(Ala4740=)" "" "0000883320" "00018334" "10" "14808" "17" "14808" "17" "c.14808+17A>C" "r.(=)" "p.(=)" "" "0000909789" "00018334" "50" "7327" "0" "7327" "0" "c.7327C>T" "r.(?)" "p.(Pro2443Ser)" "" "0000910995" "00018334" "10" "676" "13" "676" "17" "c.676+13_676+17del" "r.(=)" "p.(=)" "" "0000910996" "00018334" "10" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Leu370=)" "" "0000910997" "00018334" "90" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420Gln)" "" "0000910998" "00018334" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Pro906Leu)" "" "0000910999" "00018334" "30" "6555" "6" "6555" "6" "c.6555+6G>A" "r.(=)" "p.(=)" "" "0000911000" "00018334" "50" "7157" "0" "7157" "0" "c.7157A>G" "r.(?)" "p.(Asn2386Ser)" "" "0000911001" "00018334" "70" "7653" "0" "7654" "0" "c.7653_7654insTTCATA" "r.(?)" "p.(Thr2551_Val2552insPheIle)" "" "0000911002" "00018334" "50" "9259" "0" "9259" "0" "c.9259C>T" "r.(?)" "p.(Pro3087Ser)" "" "0000911003" "00018334" "50" "9430" "0" "9430" "0" "c.9430A>G" "r.(?)" "p.(Lys3144Glu)" "" "0000911004" "00018334" "50" "9545" "0" "9545" "0" "c.9545C>T" "r.(?)" "p.(Ser3182Phe)" "" "0000911005" "00018334" "10" "10047" "0" "10047" "0" "c.10047G>A" "r.(?)" "p.(Ser3349=)" "" "0000911006" "00018334" "30" "10221" "0" "10221" "0" "c.10221G>A" "r.(?)" "p.(Ser3407=)" "" "0000911007" "00018334" "10" "11881" "-18" "11881" "-18" "c.11881-18C>T" "r.(=)" "p.(=)" "" "0000911008" "00018334" "10" "14809" "-20" "14809" "-20" "c.14809-20C>T" "r.(=)" "p.(=)" "" "0000923130" "00018334" "70" "241" "0" "241" "0" "c.241A>C" "r.(?)" "p.(Met81Leu)" "" "0000923131" "00018334" "30" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Thr1733=)" "" "0000923132" "00018334" "50" "6834" "0" "6834" "0" "c.6834G>C" "r.(?)" "p.(Gln2278His)" "" "0000923133" "00018334" "10" "8436" "15" "8436" "15" "c.8436+15C>T" "r.(=)" "p.(=)" "" "0000923134" "00018334" "30" "14481" "0" "14481" "0" "c.14481C>T" "r.(?)" "p.(Ile4827=)" "" "0000923135" "00018334" "70" "14552" "0" "14552" "0" "c.14552T>C" "r.(?)" "p.(Phe4851Ser)" "" "0000928141" "00018334" "10" "309" "20" "309" "20" "c.309+20A>C" "r.(=)" "p.(=)" "" "0000928142" "00018334" "30" "1006" "-12" "1006" "-12" "c.1006-12C>T" "r.(=)" "p.(=)" "" "0000928143" "00018334" "30" "1292" "19" "1292" "19" "c.1292+19G>A" "r.(=)" "p.(=)" "" "0000928144" "00018334" "30" "2703" "0" "2703" "0" "c.2703C>A" "r.(?)" "p.(=)" "" "0000928145" "00018334" "50" "10725" "4" "10725" "4" "c.10725+4A>T" "r.spl?" "p.?" "" "0000928146" "00018334" "10" "12540" "0" "12540" "0" "c.12540C>T" "r.(?)" "p.(=)" "" "0000928147" "00018334" "50" "14631" "0" "14631" "0" "c.14631G>C" "r.(?)" "p.(Gln4877His)" "" "0000936223" "00018334" "50" "14590" "0" "14590" "0" "c.14590G>C" "r.(?)" "p.(Gly4864Arg)" "" "0000947175" "00018334" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" "" "0000947176" "00018334" "10" "2301" "0" "2301" "0" "c.2301G>T" "r.(?)" "p.(Ser767=)" "" "0000947177" "00018334" "30" "2397" "-16" "2397" "-16" "c.2397-16C>T" "r.(=)" "p.(=)" "" "0000947178" "00018334" "50" "3836" "0" "3836" "0" "c.3836G>T" "r.(?)" "p.(Ser1279Ile)" "" "0000947179" "00018334" "30" "5056" "0" "5056" "0" "c.5056C>T" "r.(?)" "p.(Leu1686Phe)" "" "0000947180" "00018334" "30" "5154" "0" "5154" "0" "c.5154G>A" "r.(?)" "p.(Arg1718=)" "" "0000947181" "00018334" "30" "5917" "-12" "5917" "-12" "c.5917-12T>G" "r.(=)" "p.(=)" "" "0000947182" "00018334" "10" "6393" "0" "6393" "0" "c.6393T>C" "r.(?)" "p.(Ser2131=)" "" "0000947183" "00018334" "10" "6689" "-12" "6689" "-12" "c.6689-12T>C" "r.(=)" "p.(=)" "" "0000947184" "00018334" "30" "7608" "0" "7608" "0" "c.7608T>C" "r.(?)" "p.(=)" "" "0000947185" "00018334" "90" "12424" "0" "12424" "0" "c.12424G>A" "r.(?)" "p.(Ala4142Thr)" "" "0000947186" "00018334" "50" "13371" "0" "13371" "0" "c.13371G>T" "r.(?)" "p.(Lys4457Asn)" "" "0000953786" "00018334" "50" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Val718Ile)" "" "0000957723" "00018334" "70" "13666" "0" "13666" "0" "c.13666G>C" "r.(?)" "p.(Ala4556Pro)" "" "0000957752" "00018334" "70" "6907" "0" "6907" "0" "c.6907A>G" "r.(?)" "p.(Arg2303Gly)" "" "0000957759" "00018334" "50" "1358" "0" "1358" "0" "c.1358G>C" "r.(?)" "p.(Ser453Thr)" "" "0000957808" "00018334" "70" "9181" "0" "9181" "0" "c.9181C>G" "r.(?)" "p.(Leu3061Val)" "" "0000957811" "00018334" "50" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Gly1885Glu)" "" "0000957871" "00018334" "70" "6907" "0" "6907" "0" "c.6907A>G" "r.(?)" "p.(Arg2303Gly)" "" "0000957872" "00018334" "70" "6907" "0" "6907" "0" "c.6907A>G" "r.(?)" "p.(Arg2303Gly)" "" "0000957903" "00018334" "70" "13666" "0" "13666" "0" "c.13666G>C" "r.(?)" "p.(Ala4556Pro)" "" "0000957909" "00018334" "70" "10670" "0" "10670" "0" "c.10670T>C" "r.(?)" "p.(Val3557Ala)" "" "0000960924" "00018334" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Phe)" "" "0000960925" "00018334" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(=)" "" "0000960926" "00018334" "50" "1159" "0" "1159" "0" "c.1159A>C" "r.(?)" "p.(Ile387Leu)" "" "0000960927" "00018334" "30" "1476" "4" "1476" "4" "c.1476+4C>T" "r.spl?" "p.?" "" "0000960928" "00018334" "10" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Pro1578=)" "" "0000960929" "00018334" "10" "4740" "0" "4740" "0" "c.4740G>A" "r.(?)" "p.(Pro1580=)" "" "0000960930" "00018334" "50" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Pro1583Ser)" "" "0000960931" "00018334" "10" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(=)" "" "0000960932" "00018334" "50" "6536" "0" "6536" "0" "c.6536T>C" "r.(?)" "p.(Leu2179Pro)" "" "0000960933" "00018334" "30" "6793" "-4" "6793" "-4" "c.6793-4G>A" "r.spl?" "p.?" "" "0000960934" "00018334" "30" "9450" "-9" "9450" "-9" "c.9450-9C>T" "r.(=)" "p.(=)" "" "0000960937" "00018334" "10" "10641" "0" "10641" "0" "c.10641G>A" "r.(?)" "p.(Thr3547=)" "" "0000960938" "00018334" "30" "11202" "0" "11202" "0" "c.11202T>A" "r.(?)" "p.(=)" "" "0000960939" "00018334" "10" "13347" "0" "13347" "0" "c.13347A>G" "r.(?)" "p.(=)" "" "0000960940" "00018334" "50" "14055" "0" "14055" "0" "c.14055G>T" "r.(?)" "p.(Lys4685Asn)" "" "0000960941" "00018334" "30" "14152" "-17" "14152" "-17" "c.14152-17C>G" "r.(=)" "p.(=)" "" "0000973794" "00018334" "30" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Met)" "" "0000973795" "00018334" "30" "1392" "0" "1392" "0" "c.1392C>A" "r.(?)" "p.(His464Gln)" "" "0000973796" "00018334" "50" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Thr854Ile)" "" "0000973797" "00018334" "50" "2614" "-9" "2614" "-9" "c.2614-9A>G" "r.(=)" "p.(=)" "" "0000973798" "00018334" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Pro906Leu)" "" "0000973799" "00018334" "50" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929Cys)" "" "0000973800" "00018334" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000973801" "00018334" "30" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Phe)" "" "0000973802" "00018334" "50" "4160" "7" "4160" "7" "c.4160+7A>G" "r.(=)" "p.(=)" "" "0000973803" "00018334" "30" "4241" "0" "4241" "0" "c.4241G>A" "r.(?)" "p.(Arg1414Gln)" "" "0000973804" "00018334" "50" "5755" "0" "5755" "0" "c.5755C>T" "r.(?)" "p.(Arg1919Trp)" "" "0000973805" "00018334" "30" "6493" "0" "6493" "0" "c.6493C>T" "r.(?)" "p.(=)" "" "0000973806" "00018334" "50" "6952" "0" "6952" "0" "c.6952A>G" "r.(?)" "p.(Asn2318Asp)" "" "0000973807" "00018334" "30" "7733" "3" "7733" "3" "c.7733+3G>A" "r.spl?" "p.?" "" "0000973808" "00018334" "50" "8145" "0" "8145" "0" "c.8145G>T" "r.(?)" "p.(Glu2715Asp)" "" "0000973809" "00018334" "50" "12232" "0" "12232" "0" "c.12232C>A" "r.(?)" "p.(Leu4078Ile)" "" "0000973810" "00018334" "50" "12887" "0" "12887" "0" "c.12887A>C" "r.(?)" "p.(His4296Pro)" "" "0000973811" "00018334" "50" "12944" "0" "12944" "0" "c.12944G>A" "r.(?)" "p.(Gly4315Glu)" "" "0000973812" "00018334" "30" "13329" "-10" "13329" "-7" "c.13329-10_13329-7del" "r.(=)" "p.(=)" "" "0000989337" "00018334" "50" "7220" "0" "7220" "0" "c.7220A>C" "r.(?)" "p.(His2407Pro)" "" "0000989409" "00018334" "50" "6862" "0" "6862" "0" "c.6862A>G" "r.(?)" "p.(Ile2288Val)" "" "0000989641" "00018334" "50" "1927" "0" "1927" "0" "c.1927T>A" "r.(?)" "p.(Leu643Ile)" "" "0000989669" "00018334" "50" "4273" "0" "4273" "0" "c.4273A>G" "r.(?)" "p.(Thr1425Ala)" "" "0000989758" "00018334" "70" "6800" "0" "6800" "0" "c.6800G>A" "r.(?)" "p.(Arg2267His)" "" "0000989759" "00018334" "50" "12241" "0" "12241" "0" "c.12241G>A" "r.(?)" "p.(Glu4081Lys)" "" "0000989760" "00018334" "50" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Leu73Pro)" "" "0000989761" "00018334" "50" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(His877Tyr)" "" "0000989762" "00018334" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Val919Met)" "" "0000989763" "00018334" "50" "3827" "0" "3827" "0" "c.3827C>T" "r.(?)" "p.(Thr1276Ile)" "" "0000989764" "00018334" "50" "4069" "0" "4069" "0" "c.4069G>C" "r.(?)" "p.(Asp1357His)" "" "0000989765" "00018334" "50" "4829" "0" "4829" "0" "c.4829G>A" "r.(?)" "p.(Arg1610Gln)" "" "0000989766" "00018334" "50" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "" "0000989810" "00018334" "50" "5933" "0" "5933" "0" "c.5933A>G" "r.(?)" "p.(Asn1978Ser)" "" "0000989813" "00018334" "70" "1195" "0" "1195" "0" "c.1195A>G" "r.(?)" "p.(Met399Val)" "" "0000989826" "00018334" "50" "8968" "0" "8968" "0" "c.8968C>T" "r.(?)" "p.(Leu2990Phe)" "" "0000991006" "00018334" "50" "1154" "0" "1154" "0" "c.1154G>C" "r.(?)" "p.(Gly385Ala)" "" "0000991007" "00018334" "30" "1292" "20" "1292" "20" "c.1292+20C>G" "r.(=)" "p.(=)" "" "0000991008" "00018334" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0000991010" "00018334" "50" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(=)" "" "0000991011" "00018334" "50" "1904" "0" "1904" "0" "c.1904A>G" "r.(?)" "p.(Asn635Ser)" "" "0000991012" "00018334" "50" "3265" "0" "3265" "0" "c.3265C>T" "r.(?)" "p.(Arg1089Cys)" "" "0000991013" "00018334" "50" "3266" "0" "3266" "0" "c.3266G>A" "r.(?)" "p.(Arg1089His)" "" "0000991014" "00018334" "50" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614Cys)" "" "0000991015" "00018334" "50" "4975" "0" "4975" "0" "c.4975C>T" "r.(?)" "p.(Arg1659Trp)" "" "0000991016" "00018334" "50" "5377" "0" "5377" "0" "c.5377C>A" "r.(?)" "p.(Gln1793Lys)" "" "0000991017" "00018334" "30" "6022" "5" "6022" "5" "c.6022+5G>A" "r.spl?" "p.?" "" "0000991018" "00018334" "50" "6191" "0" "6191" "0" "c.6191A>G" "r.(?)" "p.(Glu2064Gly)" "" "0000991019" "00018334" "50" "6230" "0" "6230" "0" "c.6230A>G" "r.(?)" "p.(Asp2077Gly)" "" "0000991020" "00018334" "10" "6555" "8" "6555" "8" "c.6555+8C>T" "r.(=)" "p.(=)" "" "0000991021" "00018334" "50" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Ala2603Thr)" "" "0000991022" "00018334" "50" "8800" "0" "8800" "0" "c.8800G>A" "r.(?)" "p.(Asp2934Asn)" "" "0000991023" "00018334" "50" "8968" "0" "8968" "0" "c.8968C>T" "r.(?)" "p.(Leu2990Phe)" "" "0000991024" "00018334" "30" "10231" "-5" "10231" "-5" "c.10231-5C>T" "r.spl?" "p.?" "" "0000991025" "00018334" "50" "10327" "0" "10327" "0" "c.10327G>C" "r.(?)" "p.(Ala3443Pro)" "" "0000991026" "00018334" "50" "11116" "0" "11116" "0" "c.11116G>A" "r.(?)" "p.(Asp3706Asn)" "" "0000991027" "00018334" "50" "11918" "0" "11918" "0" "c.11918A>T" "r.(?)" "p.(Asp3973Val)" "" "0000991028" "00018334" "70" "12326" "0" "12326" "0" "c.12326T>G" "r.(?)" "p.(Met4109Arg)" "" "0000991029" "00018334" "30" "12676" "0" "12676" "0" "c.12676C>A" "r.(?)" "p.(Pro4226Thr)" "" "0000991030" "00018334" "30" "13055" "0" "13055" "0" "c.13055A>G" "r.(?)" "p.(Lys4352Arg)" "" "0000991031" "00018334" "30" "13411" "0" "13411" "0" "c.13411G>A" "r.(?)" "p.(Gly4471Arg)" "" "0001013296" "00018334" "10" "2204" "-16" "2204" "-16" "c.2204-16G>T" "r.(=)" "p.(=)" "" "0001013297" "00018334" "30" "12609" "0" "12609" "0" "c.12609G>T" "r.(?)" "p.(=)" "" "0001017850" "00018334" "70" "14849" "0" "14849" "0" "c.14849A>T" "r.(?)" "p.(Glu4950Val)" "" "0001017934" "00018334" "50" "6891" "0" "6891" "0" "c.6891A>T" "r.(?)" "p.(Arg2297Ser)" "" "0001024134" "00018334" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(=)" "" "0001024135" "00018334" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Val919Met)" "" "0001024136" "00018334" "50" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Glu1815Lys)" "" "0001024137" "00018334" "50" "5756" "0" "5756" "0" "c.5756G>A" "r.(?)" "p.(Arg1919Gln)" "" "0001024138" "00018334" "50" "9641" "0" "9641" "0" "c.9641T>A" "r.(?)" "p.(Leu3214His)" "" "0001024139" "00018334" "30" "12168" "0" "12168" "0" "c.12168G>A" "r.(?)" "p.(=)" "" "0001024140" "00018334" "50" "12944" "0" "12944" "0" "c.12944G>A" "r.(?)" "p.(Gly4315Glu)" "" "0001024141" "00018334" "90" "14161" "0" "14161" "0" "c.14161T>C" "r.(?)" "p.(Tyr4721His)" "" "0001031857" "00018334" "50" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Thr302Ala)" "" "0001031858" "00018334" "10" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Gly592=)" "" "0001031859" "00018334" "50" "1927" "0" "1927" "0" "c.1927T>A" "r.(?)" "p.(Leu643Ile)" "" "0001031860" "00018334" "50" "2685" "0" "2685" "0" "c.2685G>A" "r.(?)" "p.(Met895Ile)" "" "0001031861" "00018334" "30" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051Cys)" "" "0001031862" "00018334" "30" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Gly1179=)" "" "0001031863" "00018334" "50" "4666" "0" "4666" "0" "c.4666G>C" "r.(?)" "p.(Glu1556Gln)" "" "0001031864" "00018334" "50" "5751" "0" "5751" "0" "c.5751G>T" "r.(?)" "p.(Gln1917His)" "" "0001031865" "00018334" "30" "5774" "0" "5774" "0" "c.5774T>C" "r.(?)" "p.(Ile1925Thr)" "" "0001031866" "00018334" "30" "5822" "0" "5822" "0" "c.5822G>A" "r.(?)" "p.(Arg1941His)" "" "0001031867" "00018334" "70" "6532" "0" "6532" "0" "c.6532G>A" "r.(?)" "p.(Val2178Ile)" "" "0001031868" "00018334" "50" "6923" "0" "6923" "0" "c.6923G>A" "r.(?)" "p.(Cys2308Tyr)" "" "0001031869" "00018334" "30" "8798" "0" "8798" "0" "c.8798T>G" "r.(?)" "p.(Val2933Gly)" "" "0001031870" "00018334" "50" "9367" "3" "9367" "3" "c.9367+3A>G" "r.spl?" "p.?" "" "0001031871" "00018334" "50" "10442" "0" "10442" "0" "c.10442G>C" "r.(?)" "p.(Cys3481Ser)" "" "0001031872" "00018334" "50" "10761" "0" "10761" "0" "c.10761G>C" "r.(?)" "p.(Trp3587Cys)" "" "0001031873" "00018334" "50" "10933" "0" "10933" "0" "c.10933G>A" "r.(?)" "p.(Ala3645Thr)" "" "0001031874" "00018334" "10" "14484" "0" "14484" "0" "c.14484G>T" "r.(?)" "p.(Gly4828=)" "" "0001045666" "00018334" "10" "2613" "16" "2613" "16" "c.2613+16C>T" "r.(=)" "p.(=)" "" "0001045667" "00018334" "50" "3796" "0" "3796" "0" "c.3796G>T" "r.(?)" "p.(Glu1266*)" "" "0001045668" "00018334" "50" "6269" "0" "6269" "0" "c.6269G>A" "r.(?)" "p.(Arg2090Gln)" "" "0001045669" "00018334" "70" "12415" "0" "12415" "0" "c.12415A>G" "r.(?)" "p.(Met4139Val)" "" "0001046973" "00018334" "70" "14255" "0" "14255" "0" "c.14255C>T" "r.(?)" "p.(Thr4752Ile)" "" "0001047022" "00018334" "70" "569" "0" "569" "0" "c.569G>C" "r.(?)" "p.(Arg190Thr)" "" "0001047263" "00018334" "50" "8366" "0" "8366" "0" "c.8366T>C" "r.(?)" "p.(Ile2789Thr)" "" "0001048132" "00018334" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0001049371" "00018334" "50" "14668" "0" "14668" "0" "c.14668A>G" "r.(?)" "p.(Ile4890Val)" "" "0001050487" "00018334" "50" "1396" "0" "1396" "0" "c.1396C>G" "r.(?)" "p.(Pro466Ala)" "" "0001050488" "00018334" "50" "2609" "0" "2609" "0" "c.2609G>T" "r.(?)" "p.(Ser870Ile)" "" "0001050489" "00018334" "50" "2764" "0" "2764" "0" "c.2764T>A" "r.(?)" "p.(Ser922Thr)" "" "0001050490" "00018334" "50" "3727" "0" "3727" "0" "c.3727A>C" "r.(?)" "p.(Thr1243Pro)" "" "0001050491" "00018334" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Val1359Ala)" "" "0001050492" "00018334" "30" "4198" "0" "4198" "0" "c.4198A>G" "r.(?)" "p.(Ser1400Gly)" "" "0001050493" "00018334" "30" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Asp2455=)" "" "0001050494" "00018334" "50" "10517" "0" "10517" "0" "c.10517G>A" "r.(?)" "p.(Arg3506Gln)" "" "0001050495" "00018334" "50" "12403" "0" "12403" "0" "c.12403C>T" "r.(?)" "p.(Arg4135Cys)" "" "0001050496" "00018334" "30" "13983" "0" "13983" "0" "c.13983C>T" "r.(?)" "p.(Tyr4661=)" "" "0001050497" "00018334" "70" "14606" "0" "14606" "0" "c.14606C>A" "r.(?)" "p.(Ala4869Asp)" "" "0001059331" "00018334" "90" "11200" "0" "11200" "0" "c.11200C>T" "r.(?)" "p.(Arg3734Cys)" "" "0001059482" "00018334" "90" "13291" "0" "13291" "0" "c.13291G>A" "r.(?)" "p.(Glu4431Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 319 "{{screeningid}}" "{{variantid}}" "0000016264" "0000036031" "0000016268" "0000036032" "0000029022" "0000052362" "0000029034" "0000052375" "0000044022" "0000071826" "0000044024" "0000071829" "0000044028" "0000071835" "0000058426" "0000088999" "0000064234" "0000095311" "0000064238" "0000095324" "0000064260" "0000095418" "0000064275" "0000095470" "0000064286" "0000095500" "0000064287" "0000095504" "0000064288" "0000095509" "0000064329" "0000095648" "0000064333" "0000095659" "0000064333" "0000095660" "0000064339" "0000095678" "0000064359" "0000095745" "0000064359" "0000095746" "0000064841" "0000096477" "0000064843" "0000096482" "0000064852" "0000096501" "0000064854" "0000096503" "0000065302" "0000096979" "0000102308" "0000165050" "0000102309" "0000165051" "0000102310" "0000165052" "0000102311" "0000165053" "0000102312" "0000165054" "0000102313" "0000165055" "0000102314" "0000165056" "0000102315" "0000165057" "0000102316" "0000165058" "0000102317" "0000165059" "0000102318" "0000165060" "0000102319" "0000165061" "0000102320" "0000165062" "0000102321" "0000165063" "0000102322" "0000165064" "0000102323" "0000165065" "0000102324" "0000165066" "0000102325" "0000165067" "0000102326" "0000165068" "0000102327" "0000165069" "0000102328" "0000165070" "0000102329" "0000165071" "0000102330" "0000165072" "0000102331" "0000165073" "0000102332" "0000165074" "0000102333" "0000165075" "0000102334" "0000165076" "0000102335" "0000165077" "0000102336" "0000165078" "0000102337" "0000165079" "0000102338" "0000165080" "0000102339" "0000165081" "0000102340" "0000165082" "0000102341" "0000165083" "0000102342" "0000165084" "0000102343" "0000165085" "0000102344" "0000165086" "0000102345" "0000165087" "0000102346" "0000165088" "0000102347" "0000165089" "0000102348" "0000165090" "0000102349" "0000165091" "0000102350" "0000165092" "0000102351" "0000165093" "0000102352" "0000165094" "0000102353" "0000165095" "0000102354" "0000165096" "0000102355" "0000165097" "0000102356" "0000165098" "0000102357" "0000165099" "0000102358" "0000165100" "0000102359" "0000165101" "0000102360" "0000165102" "0000102361" "0000165103" "0000102362" "0000165104" "0000102363" "0000165105" "0000102364" "0000165106" "0000102365" "0000165107" "0000102366" "0000165108" "0000102367" "0000165109" "0000102368" "0000165110" "0000102369" "0000165111" "0000102370" "0000165112" "0000102371" "0000165113" "0000102372" "0000165114" "0000102373" "0000165115" "0000102374" "0000165116" "0000102375" "0000165117" "0000102376" "0000165118" "0000102377" "0000165119" "0000102378" "0000165120" "0000102379" "0000165121" "0000102380" "0000165122" "0000102381" "0000165123" "0000102382" "0000165124" "0000102383" "0000165125" "0000102384" "0000165126" "0000102385" "0000165127" "0000102386" "0000165128" "0000102387" "0000165129" "0000102388" "0000165130" "0000102389" "0000165131" "0000102390" "0000165132" "0000102391" "0000165133" "0000102392" "0000165134" "0000102393" "0000165135" "0000102394" "0000165136" "0000102395" "0000165137" "0000102396" "0000165138" "0000102397" "0000165139" "0000102398" "0000165140" "0000102399" "0000165141" "0000102400" "0000165142" "0000102401" "0000165143" "0000102402" "0000165144" "0000102403" "0000165145" "0000102404" "0000165146" "0000102405" "0000165147" "0000102406" "0000165148" "0000102407" "0000165149" "0000102408" "0000165150" "0000102409" "0000165151" "0000102410" "0000165152" "0000102411" "0000165153" "0000102412" "0000165154" "0000102413" "0000165155" "0000102414" "0000165156" "0000102415" "0000165157" "0000102416" "0000165158" "0000102417" "0000165159" "0000102418" "0000165160" "0000102419" "0000165161" "0000102420" "0000165162" "0000102421" "0000165163" "0000102422" "0000165164" "0000102423" "0000165165" "0000102424" "0000165166" "0000102425" "0000165167" "0000102426" "0000165168" "0000102427" "0000165169" "0000102428" "0000165170" "0000102429" "0000165171" "0000102430" 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