### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBM20) # 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}}" "RBM20" "RNA binding motif protein 20" "10" "q25.3" "unknown" "LRG_382" "UD_132118886120" "" "http://www.LOVD.nl/RBM20" "" "1" "27424" "282996" "613171" "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/RBM20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-18 11:37:51" "00000" "2025-07-15 11:01:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017518" "RBM20" "RNA binding motif protein 20" "001" "NM_001134363.1" "" "NP_001127835.1" "" "" "" "-58" "7175" "3684" "112404155" "112599227" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03274" "CMD1DD" "cardiomyopathy, dilated, type 1DD (CMD-1DD)" "AD" "613172" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RBM20" "03274" ## Individuals ## Do not remove or alter this header ## ## Count = 61 "{{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}}" "00016375" "" "" "" "3" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 3 affecteds" "F" "no" "Netherlands" "" "0" "" "" "" "" "00064074" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064098" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064103" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064110" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064124" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064128" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064134" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064152" "" "" "" "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" "" "" "" "" "00064160" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064165" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064172" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064193" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064203" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064207" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064223" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064224" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064710" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "28y" "0" "" "" "" "" "00064724" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "22y" "0" "" "" "" "" "00128371" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "48" "00128413" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "132" "00128454" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "227" "00163898" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "0" "yes" "" "" "" "00219174" "" "" "" "3" "" "02588" "{PMID:Zhang 2018:30276801}" "3-generation family, proband, affected younger brother (41y) and niece (17y), mother (38y) died from sudden cardiac death" "F;M" "?" "China" "" "0" "" "" "" "Proband-Fam" "00228156" "" "" "" "5" "" "02588" "{PMID:Pantou 2018:30557877}" "proband, 4 affected family members and 1 unaffected carrier family member" "-" "?" "Greece" "20y" "0" "" "implantable cardioverter defibrillator, bisoprolol" "" "30557877-proband-fam" "00228162" "" "" "" "1" "" "02588" "{PMID:Monaco 2018:30611920}" "proband, father had acute myocardial infarction" "M" "?" "Italy" "" "0" "" "see paper" "" "30611920-proband" "00289989" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289990" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289991" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317870" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317871" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317872" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317873" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317874" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317875" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317876" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317877" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317878" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320300" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BTD1" "00329099" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "Germany" "23y" "0" "" "" "" "155427" "00376432" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat200" "00417653" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417657" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00446767" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat41" "00446771" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat45" "00446776" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat51" "00446781" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat57" "00446788" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat67" "00446796" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat79" "00446804" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat88" "00446820" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat109" "00446833" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat128" "00446857" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat162" "00453130" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam91Pat124" "00453151" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam368Pat398" "00453242" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam20Pat29" "00453243" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam24Pat42" "00453244" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam223Pat242" "00453245" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam298Pat319" "00465695" "" "" "" "1" "" "00006" "{PMID:Cao 2025:40364824}" "analysis 60 cases (non-)ischemic dilated cardiomyopathy" "" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 61 "{{individualid}}" "{{diseaseid}}" "00016375" "00365" "00064074" "00351" "00064098" "00351" "00064103" "00351" "00064110" "00351" "00064124" "00351" "00064128" "00351" "00064134" "00351" "00064152" "00351" "00064153" "00351" "00064160" "00351" "00064165" "00351" "00064172" "00351" "00064193" "00351" "00064203" "00351" "00064207" "00351" "00064223" "00351" "00064224" "00351" "00064710" "05166" "00064724" "05166" "00128371" "00198" "00128413" "00198" "00128454" "00198" "00163898" "00351" "00219174" "00352" "00228156" "00352" "00228162" "00352" "00289989" "00198" "00289990" "00198" "00289991" "00198" "00317870" "04172" "00317871" "04172" "00317872" "04172" "00317873" "04172" "00317874" "04172" "00317875" "04172" "00317876" "04172" "00317877" "04172" "00317878" "04172" "00320300" "04172" "00329099" "02087" "00376432" "00352" "00417653" "00352" "00417657" "00352" "00446767" "04173" "00446771" "04173" "00446776" "04173" "00446781" "04173" "00446788" "04173" "00446796" "04173" "00446804" "04173" "00446820" "04173" "00446833" "04173" "00446857" "04173" "00453130" "04172" "00453151" "04172" "00453242" "04172" "00453243" "04172" "00453244" "04172" "00453245" "04172" "00465695" "00352" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 00365, 02087, 03274, 04172, 04173, 05166 ## Count = 57 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014974" "00365" "00016375" "00006" "Familial" "" "2 cases mild DCM" "" "" "" "" "" "" "" "" "" "" "" "0000050590" "00351" "00064074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050614" "00351" "00064098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050619" "00351" "00064103" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050626" "00351" "00064110" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050640" "00351" "00064124" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050644" "00351" "00064128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050650" "00351" "00064134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050668" "00351" "00064152" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050669" "00351" "00064153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050676" "00351" "00064160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050681" "00351" "00064165" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050688" "00351" "00064172" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050709" "00351" "00064193" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050719" "00351" "00064203" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050723" "00351" "00064207" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050739" "00351" "00064223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050740" "00351" "00064224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053238" "05166" "00064710" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053251" "05166" "00064724" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100588" "00198" "00128371" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100630" "00198" "00128413" "02244" "Unknown" "0d" "" "" "0" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100674" "00198" "00128454" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100675" "00198" "00128454" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000129010" "00351" "00163898" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167720" "00352" "00219174" "02588" "Unknown" "43y" "Left atrial enlargement (HP:0031295), abnormal left ventricle morphology (HP:0001711), syncope (HP:0001279)" "" "" "" "" "" "" "" "" "" "" "" "0000172069" "00352" "00228156" "02588" "Unknown" "20y" "ventricular arrhythmia (HP:0004308); left ventricular hypertrophy, severe (HP:0001712); severely reduced ejection fraction (HP:0012666); ventricular tachycardia (HP:0004756); congestive heart failure (HP:0001635); cardiogenic shock (HP:0030149)" "" "18y" "" "" "" "" "" "" "" "" "" "0000172074" "00352" "00228162" "02588" "Unknown" "26y" "ventricular arrhythmia (HP:0004308); aborted sudden cardiac death (HP:0031628); right bundle branch block, incomplete (HP:0011712); sinus tachycardia (HP:0011703); left ventricular hypertrophy, mild (HP:0001712); mildly reduced ejection fraction (HP:0012663); ventricular extrasystoles (HP:0006682); atrial enlargement" "" "" "" "" "" "" "" "" "" "" "" "0000241616" "04172" "00317870" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241617" "04172" "00317871" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241618" "04172" "00317872" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241619" "04172" "00317873" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241620" "04172" "00317874" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241621" "04172" "00317875" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241622" "04172" "00317876" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241623" "04172" "00317877" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241624" "04172" "00317878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242328" "04172" "00320300" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000247296" "02087" "00329099" "01164" "Unknown" "" "Arrhythmia, Sudden cardiac death\r\nSudden cardiac death" "" "" "" "" "" "" "" "" "" "" "" "0000271640" "00352" "00376432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000335971" "04173" "00446767" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335975" "04173" "00446771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335980" "04173" "00446776" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335985" "04173" "00446781" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335992" "04173" "00446788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336000" "04173" "00446796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336008" "04173" "00446804" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336024" "04173" "00446820" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336037" "04173" "00446833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336061" "04173" "00446857" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000341776" "04172" "00453130" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341797" "04172" "00453151" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341888" "04172" "00453242" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341889" "04172" "00453243" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341890" "04172" "00453244" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341891" "04172" "00453245" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000351233" "00352" "00465695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, non-ischemic" "" ## Screenings ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016313" "00016375" "1" "00006" "00006" "2014-03-30 03:26:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000064207" "00064074" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064231" "00064098" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064236" "00064103" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064243" "00064110" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064257" "00064124" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064261" "00064128" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064267" "00064134" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064285" "00064152" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064286" "00064153" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064293" "00064160" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064298" "00064165" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064305" "00064172" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064326" "00064193" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064336" "00064203" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064340" "00064207" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064356" "00064223" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064357" "00064224" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064849" "00064710" "1" "01601" "01601" "2016-05-10 11:35:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000064863" "00064724" "1" "01601" "01601" "2016-05-10 12:25:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000128838" "00128371" "1" "02244" "02244" "2017-09-15 14:35:54" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129250" "00128413" "1" "02244" "02244" "2017-09-15 16:07:41" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129292" "00128454" "1" "02244" "02244" "2017-09-15 17:52:11" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000164762" "00163898" "1" "02438" "02438" "2018-04-22 19:51:59" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000220247" "00219174" "1" "02588" "02588" "2019-02-07 10:31:53" "" "" "SEQ" "DNA" "blood" "" "0000229245" "00228156" "1" "02588" "02588" "2019-03-19 11:42:26" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000229251" "00228162" "1" "02588" "02588" "2019-03-19 14:42:52" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000291157" "00289989" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291158" "00289990" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291159" "00289991" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319052" "00317870" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319053" "00317871" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319054" "00317872" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319055" "00317873" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319056" "00317874" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319057" "00317875" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319058" "00317876" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319059" "00317877" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319060" "00317878" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321486" "00320300" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000330316" "00329099" "1" "01164" "01164" "2021-02-03 17:00:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000377637" "00376432" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000418946" "00417653" "1" "04384" "04384" "2022-09-21 11:19:08" "" "" "SEQ-NG" "DNA" "" "" "0000418950" "00417657" "1" "04384" "04384" "2022-09-21 11:40:04" "" "" "SEQ-NG" "DNA" "" "" "0000448342" "00446767" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448346" "00446771" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448351" "00446776" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448356" "00446781" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448363" "00446788" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448371" "00446796" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448379" "00446804" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448395" "00446820" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448408" "00446833" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448432" "00446857" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454741" "00453130" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454762" "00453151" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454853" "00453242" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454854" "00453243" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454855" "00453244" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454856" "00453245" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000467346" "00465695" "1" "00006" "00006" "2025-06-05 10:19:41" "" "" "SEQ;SEQ-NG" "DNA" "" "36-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000016313" "RBM20" "0000064207" "TTN" "0000064231" "TTN" "0000064236" "TTN" "0000064243" "TTN" "0000064257" "TTN" "0000064261" "TTN" "0000064267" "TTN" "0000064285" "TTN" "0000064286" "TTN" "0000064293" "TTN" "0000064298" "TTN" "0000064305" "TTN" "0000064326" "TTN" "0000064336" "TTN" "0000064340" "TTN" "0000064356" "TTN" "0000064357" "TTN" "0000220247" "SYNM" "0000229245" "RBM20" "0000229251" "NKX2-5" "0000229251" "RBM20" "0000319052" "RBM20" "0000319053" "RBM20" "0000319054" "RBM20" "0000319055" "RBM20" "0000319056" "RBM20" "0000319057" "RBM20" "0000319058" "RBM20" "0000319059" "RBM20" "0000319060" "RBM20" "0000321486" "RBM20" "0000330316" "RBM20" "0000330316" "RTP1" "0000330316" "SCN5A" "0000377637" "RBM20" "0000418946" "RBM20" "0000418950" "RBM20" ## 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 = 711 "{{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}}" "0000036108" "1" "55" "10" "112572065" "112572065" "subst" "0" "00006" "RBM20_000001" "g.112572065G>A" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Unknown" "?" "" "0" "" "" "g.110812307G>A" "" "VUS" "" "0000095207" "0" "50" "10" "112541217" "112541217" "subst" "0.000316865" "00006" "RBM20_000004" "g.112541217G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G850A" "" "Germline" "" "" "0" "" "" "g.110781459G>A" "" "VUS" "" "0000095298" "0" "50" "10" "112581643" "112581643" "subst" "0.000198329" "00006" "RBM20_000007" "g.112581643C>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C3266G" "" "Germline" "" "" "0" "" "" "g.110821885C>G" "" "VUS" "" "0000095319" "0" "50" "10" "112541217" "112541217" "subst" "0.000316865" "00006" "RBM20_000006" "g.112541217G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G850A" "" "Germline" "" "" "0" "" "" "g.110781459G>A" "" "VUS" "" "0000095340" "0" "50" "10" "112583294" "112583294" "subst" "0.00358856" "00006" "RBM20_000005" "g.112583294G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3373A" "" "Germline" "" "" "0" "" "" "g.110823536G>A" "" "VUS" "" "0000095407" "0" "50" "10" "112541217" "112541217" "subst" "0.000316865" "00006" "RBM20_000004" "g.112541217G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G850A" "" "Germline" "" "" "0" "" "" "g.110781459G>A" "" "VUS" "" "0000095421" "0" "50" "10" "112583294" "112583294" "subst" "0.00358856" "00006" "RBM20_000012" "g.112583294G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3373A" "" "Germline" "" "" "0" "" "" "g.110823536G>A" "" "VUS" "" "0000095440" "0" "50" "10" "112572368" "112572368" "subst" "0.000583237" "00006" "RBM20_000010" "g.112572368C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C2213T" "" "Germline" "" "" "0" "" "" "g.110812610C>T" "" "VUS" "" "0000095441" "0" "50" "10" "112572394" "112572394" "subst" "7.94344E-5" "00006" "RBM20_000011" "g.112572394C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C2239T" "" "Germline" "" "" "0" "" "" "g.110812636C>T" "" "VUS" "" "0000095495" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C1364T" "" "Germline" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000095499" "0" "50" "10" "112583294" "112583294" "subst" "0.00358856" "00006" "RBM20_000013" "g.112583294G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3373A" "" "Germline" "" "" "0" "" "" "g.110823536G>A" "" "VUS" "" "0000095525" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000009" "g.112544125C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C1364T" "" "Germline" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000095547" "0" "50" "10" "112557371" "112557371" "subst" "7.23085E-5" "00006" "RBM20_000014" "g.112557371G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G1633A" "" "Germline" "" "" "0" "" "" "g.110797613G>A" "" "VUS" "" "0000095574" "0" "50" "10" "112581400" "112581400" "subst" "1.98274E-5" "00006" "RBM20_000016" "g.112581400G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3023A" "" "Germline" "" "" "0" "" "" "g.110821642G>A" "" "VUS" "" "0000095639" "0" "50" "10" "112583294" "112583294" "subst" "0.00358856" "00006" "RBM20_000005" "g.112583294G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3373A" "" "Germline" "" "" "0" "" "" "g.110823536G>A" "" "VUS" "" "0000095668" "0" "50" "10" "112559642" "112559642" "subst" "3.93046E-5" "00006" "RBM20_000015" "g.112559642G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G1766A" "" "Germline" "" "" "0" "" "" "g.110799884G>A" "" "VUS" "" "0000095683" "0" "50" "10" "112583294" "112583294" "subst" "0.00358856" "00006" "RBM20_000005" "g.112583294G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.G3373A" "" "Germline" "" "" "0" "" "" "g.110823536G>A" "" "VUS" "" "0000095735" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C1364T" "" "Germline" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000095737" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001134363:c.C1364T" "" "Germline" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000096498" "0" "50" "10" "112540908" "112540908" "subst" "0.000146253" "01601" "RBM20_000002" "g.112540908G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110781150G>A" "" "VUS" "" "0000096516" "0" "50" "10" "112581492" "112581492" "subst" "0.000217761" "01601" "RBM20_000003" "g.112581492C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110821734C>T" "" "VUS" "" "0000217972" "0" "50" "10" "112572325" "112572325" "subst" "0" "02244" "RBM20_000018" "g.112572325G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.110812567G>A" "" "VUS" "" "0000218396" "0" "50" "10" "112541424" "112541424" "subst" "6.04132E-5" "02244" "RBM20_000017" "g.112541424G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.110781666G>A" "" "VUS" "" "0000218451" "0" "50" "10" "112583343" "112583343" "subst" "0" "02244" "RBM20_000019" "g.112583343A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.110823585A>G" "" "VUS" "" "0000246871" "0" "10" "10" "112579949" "112579949" "subst" "0.00403338" "02330" "RBM20_000105" "g.112579949A>G" "" "" "" "RBM20(NM_001134363.1):c.2655+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820191A>G" "" "benign" "" "0000246873" "0" "10" "10" "112541655" "112541655" "subst" "0.000672332" "02330" "RBM20_000158" "g.112541655A>G" "" "" "" "RBM20(NM_001134363.1):c.1275+13A>G, RBM20(NM_001134363.3):c.1275+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781897A>G" "" "benign" "" "0000246886" "0" "10" "10" "112404362" "112404362" "subst" "0.000260641" "02330" "RBM20_000029" "g.112404362A>T" "" "" "" "RBM20(NM_001134363.1):c.150A>T (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644604A>T" "" "benign" "" "0000246890" "0" "50" "10" "112581264" "112581264" "subst" "0.000348231" "02330" "RBM20_000108" "g.112581264A>G" "" "" "" "RBM20(NM_001134363.1):c.2887A>G (p.K963E), RBM20(NM_001134363.3):c.2887A>G (p.K963E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821506A>G" "" "VUS" "" "0000246896" "0" "10" "10" "112583386" "112583386" "subst" "3.31781E-5" "02330" "RBM20_000126" "g.112583386A>G" "" "" "" "RBM20(NM_001134363.1):c.3451+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823628A>G" "" "benign" "" "0000246897" "0" "50" "10" "112572197" "112572197" "subst" "0.000133346" "02330" "RBM20_000171" "g.112572197A>G" "" "" "" "RBM20(NM_001134363.1):c.2042A>G (p.Y681C), RBM20(NM_001134363.3):c.2042A>G (p.Y681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812439A>G" "" "VUS" "" "0000246898" "0" "50" "10" "112544575" "112544575" "subst" "0.000121039" "02330" "RBM20_000166" "g.112544575A>G" "" "" "" "RBM20(NM_001134363.1):c.1455A>G (p.S485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784817A>G" "" "VUS" "" "0000246903" "0" "50" "10" "112595630" "112595630" "subst" "2.74627E-5" "02330" "RBM20_000175" "g.112595630A>G" "" "" "" "RBM20(NM_001134363.1):c.3578A>G (p.Y1193C), RBM20(NM_001134363.3):c.3578A>G (p.Y1193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835872A>G" "" "VUS" "" "0000246904" "0" "10" "10" "112579895" "112579895" "subst" "6.6072E-6" "02330" "RBM20_000173" "g.112579895A>G" "" "" "" "RBM20(NM_001134363.1):c.2616A>G (p.E872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820137A>G" "" "benign" "" "0000246961" "0" "50" "10" "112572338" "112572338" "subst" "6.63817E-6" "02330" "RBM20_000172" "g.112572338A>G" "" "" "" "RBM20(NM_001134363.1):c.2183A>G (p.E728G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812580A>G" "" "VUS" "" "0000246973" "0" "50" "10" "112541136" "112541136" "subst" "0" "02330" "RBM20_000137" "g.112541136A>G" "" "" "" "RBM20(NM_001134363.1):c.769A>G (p.T257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781378A>G" "" "VUS" "" "0000246975" "0" "50" "10" "112595630" "112595630" "subst" "0" "02330" "RBM20_000133" "g.112595630A>C" "" "" "" "RBM20(NM_001134363.1):c.3578A>C (p.Y1193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835872A>C" "" "VUS" "" "0000248049" "0" "30" "10" "112541655" "112541655" "subst" "0.000672332" "02325" "RBM20_000158" "g.112541655A>G" "" "" "" "RBM20(NM_001134363.1):c.1275+13A>G, RBM20(NM_001134363.3):c.1275+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781897A>G" "" "likely benign" "" "0000248119" "0" "30" "10" "112404362" "112404362" "subst" "0" "02325" "RBM20_000030" "g.112404362A>C" "" "" "" "RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644604A>C" "" "likely benign" "" "0000248294" "0" "50" "10" "112572197" "112572197" "subst" "0.000133346" "02325" "RBM20_000171" "g.112572197A>G" "" "" "" "RBM20(NM_001134363.1):c.2042A>G (p.Y681C), RBM20(NM_001134363.3):c.2042A>G (p.Y681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812439A>G" "" "VUS" "" "0000249711" "0" "50" "10" "112595630" "112595630" "subst" "2.74627E-5" "02325" "RBM20_000175" "g.112595630A>G" "" "" "" "RBM20(NM_001134363.1):c.3578A>G (p.Y1193C), RBM20(NM_001134363.3):c.3578A>G (p.Y1193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835872A>G" "" "VUS" "" "0000250680" "0" "10" "10" "112579949" "112579949" "subst" "0.00403338" "02326" "RBM20_000105" "g.112579949A>G" "" "" "" "RBM20(NM_001134363.1):c.2655+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820191A>G" "" "benign" "" "0000251744" "0" "30" "10" "112583386" "112583386" "subst" "3.31781E-5" "02326" "RBM20_000126" "g.112583386A>G" "" "" "" "RBM20(NM_001134363.1):c.3451+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823628A>G" "" "likely benign" "" "0000252639" "0" "50" "10" "112572197" "112572197" "subst" "0.000133346" "02326" "RBM20_000171" "g.112572197A>G" "" "" "" "RBM20(NM_001134363.1):c.2042A>G (p.Y681C), RBM20(NM_001134363.3):c.2042A>G (p.Y681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812439A>G" "" "VUS" "" "0000252640" "0" "50" "10" "112544575" "112544575" "subst" "0.000121039" "02326" "RBM20_000166" "g.112544575A>G" "" "" "" "RBM20(NM_001134363.1):c.1455A>G (p.S485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784817A>G" "" "VUS" "" "0000253032" "0" "10" "10" "112579949" "112579949" "subst" "0.00403338" "01943" "RBM20_000105" "g.112579949A>G" "" "" "" "RBM20(NM_001134363.1):c.2655+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820191A>G" "" "benign" "" "0000253310" "0" "10" "10" "112541655" "112541655" "subst" "0.000672332" "01943" "RBM20_000158" "g.112541655A>G" "" "" "" "RBM20(NM_001134363.1):c.1275+13A>G, RBM20(NM_001134363.3):c.1275+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781897A>G" "" "benign" "" "0000253838" "0" "10" "10" "112570231" "112570231" "subst" "6.62497E-6" "01943" "RBM20_000071" "g.112570231A>G" "" "" "" "RBM20(NM_001134363.1):c.1880+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810473A>G" "" "benign" "" "0000254109" "0" "30" "10" "112404362" "112404362" "subst" "0" "01943" "RBM20_000030" "g.112404362A>C" "" "" "" "RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644604A>C" "" "likely benign" "" "0000254140" "0" "30" "10" "112404362" "112404362" "subst" "0.000260641" "01943" "RBM20_000029" "g.112404362A>T" "" "" "" "RBM20(NM_001134363.1):c.150A>T (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644604A>T" "" "likely benign" "" "0000254479" "0" "30" "10" "112581645" "112581645" "subst" "3.30526E-5" "01943" "RBM20_000174" "g.112581645A>T" "" "" "" "RBM20(NM_001134363.1):c.3268A>T (p.I1090F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821887A>T" "" "likely benign" "" "0000254916" "0" "30" "10" "112404358" "112404358" "subst" "0" "01943" "RBM20_000026" "g.112404358A>C" "" "" "" "RBM20(NM_001134363.1):c.146A>C (p.Q49P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644600A>C" "" "likely benign" "" "0000255820" "0" "30" "10" "112581264" "112581264" "subst" "0.000348231" "01943" "RBM20_000108" "g.112581264A>G" "" "" "" "RBM20(NM_001134363.1):c.2887A>G (p.K963E), RBM20(NM_001134363.3):c.2887A>G (p.K963E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821506A>G" "" "likely benign" "" "0000256366" "0" "50" "10" "112540930" "112540930" "subst" "0" "01943" "RBM20_000052" "g.112540930A>G" "" "" "" "RBM20(NM_001134363.1):c.563A>G (p.N188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781172A>G" "" "VUS" "" "0000294686" "0" "30" "10" "112541502" "112541502" "subst" "0.000487115" "02330" "RBM20_000150" "g.112541502G>A" "" "" "" "RBM20(NM_001134363.1):c.1135G>A (p.G379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781744G>A" "" "likely benign" "" "0000294687" "0" "50" "10" "112541505" "112541505" "subst" "7.34401E-5" "02330" "RBM20_000151" "g.112541505C>T" "" "" "" "RBM20(NM_001134363.1):c.1138C>T (p.R380W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781747C>T" "" "VUS" "" "0000294688" "0" "10" "10" "112541528" "112541528" "subst" "0.000140557" "02330" "RBM20_000152" "g.112541528G>A" "" "" "" "RBM20(NM_001134363.1):c.1161G>A (p.A387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781770G>A" "" "benign" "" "0000294689" "0" "50" "10" "112541542" "112541542" "subst" "1.3409E-5" "02330" "RBM20_000153" "g.112541542G>A" "" "" "" "RBM20(NM_001134363.1):c.1175G>A (p.R392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781784G>A" "" "VUS" "" "0000294690" "0" "10" "10" "112541546" "112541546" "subst" "0.000650256" "02330" "RBM20_000154" "g.112541546C>T" "" "" "" "RBM20(NM_001134363.1):c.1179C>T (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781788C>T" "" "benign" "" "0000294691" "0" "10" "10" "112541650" "112541650" "subst" "0.000120987" "02330" "RBM20_000056" "g.112541650G>T" "" "" "" "RBM20(NM_001134363.1):c.1275+8G>T, RBM20(NM_001134363.3):c.1275+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781892G>T" "" "benign" "" "0000294693" "0" "10" "10" "112543134" "112543134" "subst" "0.000930001" "02330" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110783376T>C" "" "benign" "" "0000294694" "0" "10" "10" "112543156" "112543156" "subst" "3.2765E-5" "02330" "RBM20_000160" "g.112543156C>T" "" "" "" "RBM20(NM_001134363.1):c.1308C>T (p.H436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110783398C>T" "" "benign" "" "0000294695" "0" "10" "10" "112544125" "112544125" "subst" "0.00554186" "02330" "RBM20_000008" "g.112544125C>T" "" "" "" "RBM20(NM_001134363.1):c.1364C>T (p.S455L), RBM20(NM_001134363.3):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784367C>T" "" "benign" "" "0000294696" "0" "50" "10" "112544614" "112544614" "subst" "1.346E-5" "02330" "RBM20_000167" "g.112544614C>A" "" "" "" "RBM20(NM_001134363.1):c.1494C>A (p.S498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784856C>A" "" "VUS" "" "0000294697" "0" "10" "10" "112544655" "112544655" "subst" "0.184473" "02330" "RBM20_000168" "g.112544655C>T" "" "" "" "RBM20(NM_001134363.1):c.1527+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784897C>T" "" "benign" "" "0000294698" "0" "10" "10" "112557250" "112557250" "subst" "0.000301463" "02330" "RBM20_000057" "g.112557250T>C" "" "" "" "RBM20(NM_001134363.1):c.1528-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797492T>C" "" "benign" "" "0000294699" "0" "50" "10" "112557265" "112557265" "subst" "0" "02330" "RBM20_000058" "g.112557265G>C" "" "" "" "RBM20(NM_001134363.1):c.1528-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797507G>C" "" "VUS" "" "0000294700" "0" "10" "10" "112557397" "112557397" "subst" "0.000138091" "02330" "RBM20_000061" "g.112557397G>A" "" "" "" "RBM20(NM_001134363.1):c.1659G>A (p.S553=), RBM20(NM_001134363.3):c.1659G>A (p.S553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797639G>A" "" "benign" "" "0000294701" "0" "50" "10" "112559636" "112559636" "subst" "0" "02330" "RBM20_000064" "g.112559636T>A" "" "" "" "RBM20(NM_001134363.1):c.1760T>A (p.L587H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110799878T>A" "" "VUS" "" "0000294702" "0" "10" "10" "112570130" "112570130" "subst" "0.0352539" "02330" "RBM20_000065" "g.112570130G>C" "" "" "" "RBM20(NM_001134363.1):c.1801-11G>C, RBM20(NM_001134363.3):c.1801-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810372G>C" "" "benign" "" "0000294703" "0" "10" "10" "112570155" "112570155" "subst" "3.30474E-5" "02330" "RBM20_000067" "g.112570155C>T" "" "" "" "RBM20(NM_001134363.1):c.1815C>T (p.A605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810397C>T" "" "benign" "" "0000294704" "0" "10" "10" "112404398" "112404398" "subst" "0" "02330" "RBM20_000036" "g.112404398C>A" "" "" "" "RBM20(NM_001134363.1):c.186C>A (p.I62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644640C>A" "" "benign" "" "0000294706" "0" "10" "10" "112572033" "112572033" "subst" "0.000986655" "02330" "RBM20_000073" "g.112572033C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-3C>T (p.?), RBM20(NM_001134363.3):c.1881-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812275C>T" "" "benign" "" "0000294707" "0" "90" "10" "112572055" "112572055" "subst" "0" "02330" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812297C>T" "" "pathogenic" "" "0000294708" "0" "10" "10" "112572069" "112572069" "subst" "0.00370271" "02330" "RBM20_000078" "g.112572069G>A" "" "" "" "RBM20(NM_001134363.1):c.1914G>A (p.P638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812311G>A" "" "benign" "" "0000294709" "0" "50" "10" "112572113" "112572113" "subst" "0.000153577" "02330" "RBM20_000079" "g.112572113C>T" "" "" "" "RBM20(NM_001134363.1):c.1958C>T (p.T653I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812355C>T" "" "VUS" "" "0000294712" "0" "10" "10" "112572141" "112572141" "subst" "0.00290028" "02330" "RBM20_000084" "g.112572141G>A" "" "" "" "RBM20(NM_001134363.1):c.1986G>A (p.P662=), RBM20(NM_001134363.3):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812383G>A" "" "benign" "" "0000294713" "0" "10" "10" "112572147" "112572147" "subst" "0.00158622" "02330" "RBM20_000085" "g.112572147C>T" "" "" "" "RBM20(NM_001134363.1):c.1992C>T (p.P664=), RBM20(NM_001134363.3):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812389C>T" "" "benign" "" "0000294714" "0" "50" "10" "112572169" "112572169" "subst" "5.33284E-5" "02330" "RBM20_000086" "g.112572169G>A" "" "" "" "RBM20(NM_001134363.1):c.2014G>A (p.G672S), RBM20(NM_001134363.3):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812411G>A" "" "VUS" "" "0000294715" "0" "50" "10" "112572302" "112572302" "subst" "0.000133535" "02330" "RBM20_000089" "g.112572302G>A" "" "" "" "RBM20(NM_001134363.1):c.2147G>A (p.R716Q), RBM20(NM_001134363.3):c.2147G>A (p.R716Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812544G>A" "" "VUS" "" "0000294716" "0" "50" "10" "112572338" "112572340" "del" "0" "02330" "RBM20_000092" "g.112572338_112572340del" "" "" "" "RBM20(NM_001134363.1):c.2183_2185delAAG (p.E728del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812580_110812582del" "" "VUS" "" "0000294717" "0" "10" "10" "112572351" "112572351" "subst" "0" "02330" "RBM20_000093" "g.112572351C>T" "" "" "" "RBM20(NM_001134363.1):c.2196C>T (p.P732=), RBM20(NM_001134363.3):c.2196C>T (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812593C>T" "" "benign" "" "0000294718" "0" "10" "10" "112572368" "112572368" "subst" "0.000583237" "02330" "RBM20_000010" "g.112572368C>T" "" "" "" "RBM20(NM_001134363.1):c.2213C>T (p.P738L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812610C>T" "" "benign" "" "0000294719" "0" "10" "10" "112572369" "112572369" "subst" "1.32535E-5" "02330" "RBM20_000094" "g.112572369G>A" "" "" "" "RBM20(NM_001134363.1):c.2214G>A (p.P738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812611G>A" "" "benign" "" "0000294720" "0" "50" "10" "112540591" "112540591" "subst" "2.09996E-5" "02330" "RBM20_000037" "g.112540591C>T" "" "" "" "RBM20(NM_001134363.1):c.224C>T (p.S75L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780833C>T" "" "VUS" "" "0000294721" "0" "10" "10" "112572458" "112572458" "subst" "0.998176" "02330" "RBM20_000096" "g.112572458G>C" "" "" "" "RBM20(NM_001134363.1):c.2303G>C (p.W768S), RBM20(NM_001134363.3):c.2303G>C (p.W768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812700G>C" "" "benign" "" "0000294722" "0" "10" "10" "112572458" "112572458" "subst" "0.0011499" "02330" "RBM20_000097" "g.112572458G>T" "" "" "" "RBM20(NM_001134363.1):c.2303G>T (p.W768L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812700G>T" "" "benign" "" "0000294723" "0" "10" "10" "112572492" "112572492" "subst" "2.64435E-5" "02330" "RBM20_000098" "g.112572492C>T" "" "" "" "RBM20(NM_001134363.1):c.2337C>T (p.P779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812734C>T" "" "benign" "" "0000294724" "0" "10" "10" "112572579" "112572579" "subst" "0" "02330" "RBM20_000100" "g.112572579G>T" "" "" "" "RBM20(NM_001134363.1):c.2424G>T (p.G808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812821G>T" "" "benign" "" "0000294725" "0" "10" "10" "112581039" "112581039" "subst" "0.00383603" "02330" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821281G>A" "" "benign" "" "0000294726" "0" "10" "10" "112540655" "112540655" "subst" "0" "02330" "RBM20_000039" "g.112540655C>G" "" "" "" "RBM20(NM_001134363.1):c.288C>G (p.A96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780897C>G" "" "benign" "" "0000294727" "0" "10" "10" "112581521" "112581521" "subst" "0.00324817" "02330" "RBM20_000115" "g.112581521C>T" "" "" "" "RBM20(NM_001134363.1):c.3144C>T (p.S1048=), RBM20(NM_001134363.3):c.3144C>T (p.S1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821763C>T" "" "benign" "" "0000294728" "0" "10" "10" "112581547" "112581547" "subst" "0.00937298" "02330" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821789G>A" "" "benign" "" "0000294729" "0" "10" "10" "112581702" "112581702" "subst" "6.62111E-6" "02330" "RBM20_000120" "g.112581702C>T" "" "" "" "RBM20(NM_001134363.1):c.3316+9C>T, RBM20(NM_001134363.3):c.3316+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821944C>T" "" "benign" "" "0000294730" "0" "10" "10" "112583220" "112583220" "subst" "0" "02330" "RBM20_000122" "g.112583220T>C" "" "" "" "RBM20(NM_001134363.1):c.3317-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823462T>C" "" "benign" "" "0000294731" "0" "10" "10" "112583218" "112583218" "subst" "0.00543522" "02330" "RBM20_000121" "g.112583218C>T" "" "" "" "RBM20(NM_001134363.1):c.3317-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823460C>T" "" "benign" "" "0000294732" "0" "10" "10" "112583251" "112583251" "subst" "0" "02330" "RBM20_000123" "g.112583251C>T" "" "" "" "RBM20(NM_001134363.1):c.3330C>T (p.Y1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823493C>T" "" "benign" "" "0000294733" "0" "10" "10" "112583294" "112583294" "subst" "0.00358856" "02330" "RBM20_000005" "g.112583294G>A" "" "" "" "RBM20(NM_001134363.1):c.3373G>A (p.E1125K), RBM20(NM_001134363.3):c.3373G>A (p.E1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823536G>A" "" "benign" "" "0000294734" "0" "50" "10" "112583312" "112583312" "subst" "0" "02330" "RBM20_000125" "g.112583312C>T" "" "" "" "RBM20(NM_001134363.1):c.3391C>T (p.P1131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823554C>T" "" "VUS" "" "0000294735" "0" "10" "10" "112590809" "112590809" "subst" "0.000656292" "02330" "RBM20_000127" "g.112590809C>T" "" "" "" "RBM20(NM_001134363.1):c.3452-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831051C>T" "" "benign" "" "0000294736" "0" "10" "10" "112590810" "112590810" "subst" "0.993736" "02330" "RBM20_000128" "g.112590810G>C" "" "" "" "RBM20(NM_001134363.1):c.3452-9G>C, RBM20(NM_001134363.3):c.3452-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831052G>C" "" "benign" "" "0000294737" "0" "10" "10" "112540715" "112540715" "subst" "3.30378E-5" "02330" "RBM20_000040" "g.112540715C>T" "" "" "" "RBM20(NM_001134363.1):c.348C>T (p.A116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780957C>T" "" "benign" "" "0000294738" "0" "50" "10" "112540716" "112540716" "subst" "6.60799E-6" "02330" "RBM20_000041" "g.112540716G>A" "" "" "" "RBM20(NM_001134363.1):c.349G>A (p.A117T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780958G>A" "" "VUS" "" "0000294739" "0" "50" "10" "112595636" "112595636" "subst" "0.000288374" "02330" "RBM20_000134" "g.112595636C>A" "" "" "" "RBM20(NM_001134363.1):c.3584C>A (p.S1195Y), RBM20(NM_001134363.3):c.3584C>A (p.S1195Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835878C>A" "" "VUS" "" "0000294740" "0" "50" "10" "112595647" "112595647" "subst" "3.43695E-5" "02330" "RBM20_000135" "g.112595647G>A" "" "" "" "RBM20(NM_001134363.1):c.3595G>A (p.E1199K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835889G>A" "" "VUS" "" "0000294741" "0" "10" "10" "112595719" "112595719" "subst" "0.802444" "02330" "RBM20_000136" "g.112595719G>C" "" "" "" "RBM20(NM_001134363.1):c.3667G>C (p.E1223Q), RBM20(NM_001134363.3):c.3667G>C (p.E1223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835961G>C" "" "benign" "" "0000294742" "0" "50" "10" "112540782" "112540782" "subst" "0" "02330" "RBM20_000044" "g.112540782C>A" "" "" "" "RBM20(NM_001134363.1):c.415C>A (p.H139N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781024C>A" "" "VUS" "" "0000294743" "0" "50" "10" "112540835" "112540837" "del" "0" "02330" "RBM20_000047" "g.112540835_112540837del" "" "" "" "RBM20(NM_001134363.1):c.468_470delTGC (p.A158del), RBM20(NM_001134363.3):c.468_470delTGC (p.A158del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781077_110781079del" "" "VUS" "" "0000294744" "0" "10" "10" "112540884" "112540884" "subst" "0.00496542" "02330" "RBM20_000049" "g.112540884C>A" "" "" "" "RBM20(NM_001134363.1):c.517C>A (p.P173T), RBM20(NM_001134363.3):c.517C>A (p.P173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781126C>A" "" "benign" "" "0000294745" "0" "10" "10" "112541057" "112541057" "subst" "0" "02330" "RBM20_000053" "g.112541057G>A" "" "" "" "RBM20(NM_001134363.1):c.690G>A (p.E230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781299G>A" "" "benign" "" "0000294746" "0" "10" "10" "112541062" "112541062" "subst" "0.00569781" "02330" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781304G>A" "" "benign" "" "0000294747" "0" "50" "10" "112541140" "112541140" "subst" "2.01922E-5" "02330" "RBM20_000138" "g.112541140C>T" "" "" "" "RBM20(NM_001134363.1):c.773C>T (p.S258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781382C>T" "" "VUS" "" "0000294748" "0" "10" "10" "112541141" "112541141" "subst" "0.000127931" "02330" "RBM20_000139" "g.112541141G>A" "" "" "" "RBM20(NM_001134363.1):c.774G>A (p.S258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781383G>A" "" "benign" "" "0000294749" "0" "50" "10" "112541152" "112541152" "subst" "0.000316388" "02330" "RBM20_000140" "g.112541152C>G" "" "" "" "RBM20(NM_001134363.1):c.785C>G (p.T262S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781394C>G" "" "VUS" "" "0000294750" "0" "10" "10" "112541249" "112541249" "subst" "2.69407E-5" "02330" "RBM20_000142" "g.112541249C>T" "" "" "" "RBM20(NM_001134363.1):c.882C>T (p.S294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781491C>T" "" "benign" "" "0000294751" "0" "10" "10" "112404302" "112404302" "subst" "0.142613" "02330" "RBM20_000020" "g.112404302G>A" "" "" "" "RBM20(NM_001134363.1):c.90G>A (p.R30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644544G>A" "" "benign" "" "0000294752" "0" "50" "10" "112541296" "112541296" "subst" "6.70871E-6" "02330" "RBM20_000144" "g.112541296C>T" "" "" "" "RBM20(NM_001134363.1):c.929C>T (p.P310L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781538C>T" "" "VUS" "" "0000294753" "0" "30" "10" "112541300" "112541300" "subst" "1.34104E-5" "02330" "RBM20_000145" "g.112541300G>C" "" "" "" "RBM20(NM_001134363.1):c.933G>C (p.L311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781542G>C" "" "likely benign" "" "0000297579" "0" "30" "10" "112541468" "112541468" "subst" "0" "02325" "RBM20_000148" "g.112541468G>T" "" "" "" "RBM20(NM_001134363.1):c.1101G>T (p.R367=), RBM20(NM_001134363.3):c.1101G>T (p.R367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781710G>T" "" "likely benign" "" "0000297580" "0" "70" "10" "112541485" "112541486" "del" "0" "02325" "RBM20_000149" "g.112541485_112541486del" "" "" "" "RBM20(NM_001134363.3):c.1118_1119delAG (p.Q373Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781727_110781728del" "" "likely pathogenic" "" "0000297581" "0" "30" "10" "112541650" "112541650" "subst" "0.000120987" "02325" "RBM20_000056" "g.112541650G>T" "" "" "" "RBM20(NM_001134363.1):c.1275+8G>T, RBM20(NM_001134363.3):c.1275+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781892G>T" "" "likely benign" "" "0000297582" "0" "30" "10" "112543134" "112543134" "subst" "0.000930001" "02325" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110783376T>C" "" "likely benign" "" "0000297583" "0" "30" "10" "112544081" "112544081" "subst" "0" "02325" "RBM20_000161" "g.112544081C>T" "" "" "" "RBM20(NM_001134363.3):c.1338-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784323C>T" "" "likely benign" "" "0000297584" "0" "30" "10" "112544125" "112544125" "subst" "0.00554186" "02325" "RBM20_000008" "g.112544125C>T" "" "" "" "RBM20(NM_001134363.1):c.1364C>T (p.S455L), RBM20(NM_001134363.3):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784367C>T" "" "likely benign" "" "0000297585" "0" "30" "10" "112544530" "112544531" "del" "0" "02325" "RBM20_000165" "g.112544530_112544531del" "" "" "" "RBM20(NM_001134363.1):c.1430-20_1430-19delTT, RBM20(NM_001134363.3):c.1430-20_1430-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784772_110784773del" "" "likely benign" "" "0000297586" "0" "70" "10" "112404357" "112404357" "subst" "0" "02325" "RBM20_000025" "g.112404357C>T" "" "" "" "RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644599C>T" "" "likely pathogenic" "" "0000297587" "0" "30" "10" "112544665" "112544665" "subst" "0" "02325" "RBM20_000169" "g.112544665T>G" "" "" "" "RBM20(NM_001134363.1):c.1527+18T>G, RBM20(NM_001134363.3):c.1527+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784907T>G" "" "likely benign" "" "0000297588" "0" "30" "10" "112557267" "112557267" "subst" "0.000192753" "02325" "RBM20_000059" "g.112557267T>C" "" "" "" "RBM20(NM_001134363.1):c.1529T>C (p.F510S), RBM20(NM_001134363.3):c.1529T>C (p.F510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797509T>C" "" "likely benign" "" "0000297589" "0" "30" "10" "112557397" "112557397" "subst" "0.000138091" "02325" "RBM20_000061" "g.112557397G>A" "" "" "" "RBM20(NM_001134363.1):c.1659G>A (p.S553=), RBM20(NM_001134363.3):c.1659G>A (p.S553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797639G>A" "" "likely benign" "" "0000297590" "0" "10" "10" "112570130" "112570130" "subst" "0.0352539" "02325" "RBM20_000065" "g.112570130G>C" "" "" "" "RBM20(NM_001134363.1):c.1801-11G>C, RBM20(NM_001134363.3):c.1801-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810372G>C" "" "benign" "" "0000297591" "0" "30" "10" "112570224" "112570226" "dup" "0" "02325" "RBM20_000069" "g.112570224_112570226dup" "" "" "" "RBM20(NM_001134363.1):c.1880+4_1880+6dupAGG, RBM20(NM_001134363.3):c.1880+4_1880+6dup, RBM20(NM_001134363.3):c.1880+4_1880+6dupAGG, RBM20(NM_00113...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810466_110810468dup" "" "likely benign" "" "0000297592" "0" "10" "10" "112572033" "112572033" "subst" "0.000986655" "02325" "RBM20_000073" "g.112572033C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-3C>T (p.?), RBM20(NM_001134363.3):c.1881-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812275C>T" "" "benign" "" "0000297593" "0" "50" "10" "112572050" "112572050" "subst" "0" "02325" "RBM20_000074" "g.112572050G>A" "" "" "" "RBM20(NM_001134363.3):c.1895G>A (p.R632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812292G>A" "" "VUS" "" "0000297594" "0" "50" "10" "112572053" "112572053" "subst" "0" "02325" "RBM20_000075" "g.112572053C>T" "" "" "" "RBM20(NM_001134363.3):c.1898C>T (p.P633L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812295C>T" "" "VUS" "" "0000297595" "0" "90" "10" "112572055" "112572055" "subst" "0" "02325" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812297C>T" "" "pathogenic" "" "0000297596" "0" "90" "10" "112572065" "112572065" "subst" "0" "02325" "RBM20_000001" "g.112572065G>A" "" "" "" "RBM20(NM_001134363.3):c.1910G>A (p.S637N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812307G>A" "" "pathogenic" "" "0000297597" "0" "30" "10" "112572141" "112572141" "subst" "0.00290028" "02325" "RBM20_000084" "g.112572141G>A" "" "" "" "RBM20(NM_001134363.1):c.1986G>A (p.P662=), RBM20(NM_001134363.3):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812383G>A" "" "likely benign" "" "0000297598" "0" "30" "10" "112572147" "112572147" "subst" "0.00158622" "02325" "RBM20_000085" "g.112572147C>T" "" "" "" "RBM20(NM_001134363.1):c.1992C>T (p.P664=), RBM20(NM_001134363.3):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812389C>T" "" "likely benign" "" "0000297599" "0" "30" "10" "112572169" "112572169" "subst" "5.33284E-5" "02325" "RBM20_000086" "g.112572169G>A" "" "" "" "RBM20(NM_001134363.1):c.2014G>A (p.G672S), RBM20(NM_001134363.3):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812411G>A" "" "likely benign" "" "0000297600" "0" "50" "10" "112572302" "112572302" "subst" "0.000133535" "02325" "RBM20_000089" "g.112572302G>A" "" "" "" "RBM20(NM_001134363.1):c.2147G>A (p.R716Q), RBM20(NM_001134363.3):c.2147G>A (p.R716Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812544G>A" "" "VUS" "" "0000297601" "0" "70" "10" "112572331" "112572331" "subst" "0" "02325" "RBM20_000091" "g.112572331C>T" "" "" "" "RBM20(NM_001134363.3):c.2176C>T (p.R726*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812573C>T" "" "likely pathogenic" "" "0000297602" "0" "30" "10" "112572351" "112572351" "subst" "0" "02325" "RBM20_000093" "g.112572351C>T" "" "" "" "RBM20(NM_001134363.1):c.2196C>T (p.P732=), RBM20(NM_001134363.3):c.2196C>T (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812593C>T" "" "likely benign" "" "0000297603" "0" "10" "10" "112572458" "112572458" "subst" "0.998176" "02325" "RBM20_000096" "g.112572458G>C" "" "" "" "RBM20(NM_001134363.1):c.2303G>C (p.W768S), RBM20(NM_001134363.3):c.2303G>C (p.W768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812700G>C" "" "benign" "" "0000297604" "0" "30" "10" "112572605" "112572605" "subst" "0" "02325" "RBM20_000101" "g.112572605G>T" "" "" "" "RBM20(NM_001134363.1):c.2450G>T (p.G817V), RBM20(NM_001134363.3):c.2450G>T (p.G817V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812847G>T" "" "likely benign" "" "0000297605" "0" "30" "10" "112572717" "112572717" "subst" "4.02425E-5" "02325" "RBM20_000102" "g.112572717T>C" "" "" "" "RBM20(NM_001134363.3):c.2550+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812959T>C" "" "likely benign" "" "0000297606" "0" "30" "10" "112581039" "112581039" "subst" "0.00383603" "02325" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821281G>A" "" "likely benign" "" "0000297607" "0" "30" "10" "112581521" "112581521" "subst" "0.00324817" "02325" "RBM20_000115" "g.112581521C>T" "" "" "" "RBM20(NM_001134363.1):c.3144C>T (p.S1048=), RBM20(NM_001134363.3):c.3144C>T (p.S1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821763C>T" "" "likely benign" "" "0000297608" "0" "30" "10" "112581547" "112581547" "subst" "0.00937298" "02325" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821789G>A" "" "likely benign" "" "0000297609" "0" "30" "10" "112581691" "112581691" "subst" "5.29241E-5" "02325" "RBM20_000119" "g.112581691C>T" "" "" "" "RBM20(NM_001134363.3):c.3314C>T (p.P1105L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821933C>T" "" "likely benign" "" "0000297610" "0" "30" "10" "112581702" "112581702" "subst" "6.62111E-6" "02325" "RBM20_000120" "g.112581702C>T" "" "" "" "RBM20(NM_001134363.1):c.3316+9C>T, RBM20(NM_001134363.3):c.3316+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821944C>T" "" "likely benign" "" "0000297611" "0" "30" "10" "112583294" "112583294" "subst" "0.00358856" "02325" "RBM20_000005" "g.112583294G>A" "" "" "" "RBM20(NM_001134363.1):c.3373G>A (p.E1125K), RBM20(NM_001134363.3):c.3373G>A (p.E1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823536G>A" "" "likely benign" "" "0000297612" "0" "10" "10" "112590810" "112590810" "subst" "0.993736" "02325" "RBM20_000128" "g.112590810G>C" "" "" "" "RBM20(NM_001134363.1):c.3452-9G>C, RBM20(NM_001134363.3):c.3452-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831052G>C" "" "benign" "" "0000297613" "0" "30" "10" "112590871" "112590871" "subst" "0.000107648" "02325" "RBM20_000129" "g.112590871G>A" "" "" "" "RBM20(NM_001134363.1):c.3504G>A (p.L1168=), RBM20(NM_001134363.3):c.3504G>A (p.L1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831113G>A" "" "likely benign" "" "0000297614" "0" "30" "10" "112590956" "112590956" "subst" "0.000155639" "02325" "RBM20_000131" "g.112590956C>T" "" "" "" "RBM20(NM_001134363.1):c.3573+16C>T, RBM20(NM_001134363.3):c.3573+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831198C>T" "" "likely benign" "" "0000297615" "0" "30" "10" "112595620" "112595620" "subst" "2.05883E-5" "02325" "RBM20_000132" "g.112595620C>G" "" "" "" "RBM20(NM_001134363.1):c.3574-6C>G, RBM20(NM_001134363.3):c.3574-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835862C>G" "" "likely benign" "" "0000297616" "0" "10" "10" "112595719" "112595719" "subst" "0.802444" "02325" "RBM20_000136" "g.112595719G>C" "" "" "" "RBM20(NM_001134363.1):c.3667G>C (p.E1223Q), RBM20(NM_001134363.3):c.3667G>C (p.E1223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835961G>C" "" "benign" "" "0000297617" "0" "50" "10" "112540835" "112540837" "del" "0" "02325" "RBM20_000047" "g.112540835_112540837del" "" "" "" "RBM20(NM_001134363.1):c.468_470delTGC (p.A158del), RBM20(NM_001134363.3):c.468_470delTGC (p.A158del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781077_110781079del" "" "VUS" "" "0000297618" "0" "30" "10" "112540884" "112540884" "subst" "0.00496542" "02325" "RBM20_000049" "g.112540884C>A" "" "" "" "RBM20(NM_001134363.1):c.517C>A (p.P173T), RBM20(NM_001134363.3):c.517C>A (p.P173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781126C>A" "" "likely benign" "" "0000297619" "0" "30" "10" "112541062" "112541062" "subst" "0.00569781" "02325" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781304G>A" "" "likely benign" "" "0000297620" "0" "30" "10" "112541293" "112541293" "subst" "0" "02325" "RBM20_000143" "g.112541293G>A" "" "" "" "RBM20(NM_001134363.3):c.926G>A (p.G309E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781535G>A" "" "likely benign" "" "0000299266" "0" "50" "10" "112559578" "112559578" "subst" "0" "02329" "RBM20_000062" "g.112559578C>T" "" "" "" "RBM20(NM_001134363.1):c.1702C>T (p.Q568*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110799820C>T" "" "VUS" "" "0000301393" "0" "30" "10" "112541650" "112541650" "subst" "0.000120987" "02326" "RBM20_000056" "g.112541650G>T" "" "" "" "RBM20(NM_001134363.1):c.1275+8G>T, RBM20(NM_001134363.3):c.1275+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781892G>T" "" "likely benign" "" "0000301394" "0" "30" "10" "112544099" "112544099" "subst" "0" "02326" "RBM20_000162" "g.112544099T>C" "" "" "" "RBM20(NM_001134363.1):c.1338T>C (p.N446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784341T>C" "" "likely benign" "" "0000301395" "0" "10" "10" "112544125" "112544125" "subst" "0.00554186" "02326" "RBM20_000008" "g.112544125C>T" "" "" "" "RBM20(NM_001134363.1):c.1364C>T (p.S455L), RBM20(NM_001134363.3):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784367C>T" "" "benign" "" "0000301396" "0" "10" "10" "112570130" "112570130" "subst" "0.0352539" "02326" "RBM20_000065" "g.112570130G>C" "" "" "" "RBM20(NM_001134363.1):c.1801-11G>C, RBM20(NM_001134363.3):c.1801-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810372G>C" "" "benign" "" "0000301397" "0" "30" "10" "112572147" "112572147" "subst" "0.00158622" "02326" "RBM20_000085" "g.112572147C>T" "" "" "" "RBM20(NM_001134363.1):c.1992C>T (p.P664=), RBM20(NM_001134363.3):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812389C>T" "" "likely benign" "" "0000301398" "0" "50" "10" "112572172" "112572172" "subst" "4.66692E-5" "02326" "RBM20_000087" "g.112572172C>T" "" "" "" "RBM20(NM_001134363.1):c.2017C>T (p.R673W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812414C>T" "" "VUS" "" "0000301399" "0" "50" "10" "112572302" "112572302" "subst" "0.000133535" "02326" "RBM20_000089" "g.112572302G>A" "" "" "" "RBM20(NM_001134363.1):c.2147G>A (p.R716Q), RBM20(NM_001134363.3):c.2147G>A (p.R716Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812544G>A" "" "VUS" "" "0000301400" "0" "30" "10" "112572330" "112572330" "subst" "0" "02326" "RBM20_000090" "g.112572330G>A" "" "" "" "RBM20(NM_001134363.1):c.2175G>A (p.E725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812572G>A" "" "likely benign" "" "0000301401" "0" "30" "10" "112572427" "112572427" "subst" "1.98347E-5" "02326" "RBM20_000095" "g.112572427G>A" "" "" "" "RBM20(NM_001134363.1):c.2272G>A (p.G758S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812669G>A" "" "likely benign" "" "0000301402" "0" "50" "10" "112572536" "112572536" "subst" "0" "02326" "RBM20_000099" "g.112572536G>A" "" "" "" "RBM20(NM_001134363.1):c.2381G>A (p.R794K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812778G>A" "" "VUS" "" "0000301403" "0" "10" "10" "112581039" "112581039" "subst" "0.00383603" "02326" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821281G>A" "" "benign" "" "0000301404" "0" "50" "10" "112581350" "112581350" "subst" "0" "02326" "RBM20_000111" "g.112581350T>A" "" "" "" "RBM20(NM_001134363.1):c.2973T>A (p.C991*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821592T>A" "" "VUS" "" "0000301405" "0" "30" "10" "112581547" "112581547" "subst" "0.00937298" "02326" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821789G>A" "" "likely benign" "" "0000301406" "0" "50" "10" "112581639" "112581639" "subst" "6.61096E-6" "02326" "RBM20_000117" "g.112581639C>A" "" "" "" "RBM20(NM_001134363.1):c.3262C>A (p.P1088T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821881C>A" "" "VUS" "" "0000301407" "0" "50" "10" "112581639" "112581639" "subst" "1.98329E-5" "02326" "RBM20_000118" "g.112581639C>G" "" "" "" "RBM20(NM_001134363.1):c.3262C>G (p.P1088A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821881C>G" "" "VUS" "" "0000301408" "0" "30" "10" "112583294" "112583294" "subst" "0.00358856" "02326" "RBM20_000005" "g.112583294G>A" "" "" "" "RBM20(NM_001134363.1):c.3373G>A (p.E1125K), RBM20(NM_001134363.3):c.3373G>A (p.E1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823536G>A" "" "likely benign" "" "0000301409" "0" "50" "10" "112590917" "112590917" "subst" "0" "02326" "RBM20_000130" "g.112590917G>A" "" "" "" "RBM20(NM_001134363.1):c.3550G>A (p.A1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831159G>A" "" "VUS" "" "0000301410" "0" "30" "10" "112540808" "112540808" "subst" "0.000151465" "02326" "RBM20_000045" "g.112540808C>T" "" "" "" "RBM20(NM_001134363.1):c.441C>T (p.H147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781050C>T" "" "likely benign" "" "0000301411" "0" "10" "10" "112540884" "112540884" "subst" "0.00496542" "02326" "RBM20_000049" "g.112540884C>A" "" "" "" "RBM20(NM_001134363.1):c.517C>A (p.P173T), RBM20(NM_001134363.3):c.517C>A (p.P173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781126C>A" "" "benign" "" "0000301412" "0" "10" "10" "112541062" "112541062" "subst" "0.00569781" "02326" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781304G>A" "" "benign" "" "0000301413" "0" "10" "10" "112404302" "112404302" "subst" "0.142613" "02326" "RBM20_000020" "g.112404302G>A" "" "" "" "RBM20(NM_001134363.1):c.90G>A (p.R30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644544G>A" "" "benign" "" "0000306796" "0" "50" "10" "112541460" "112541460" "subst" "0.000812532" "01943" "RBM20_000147" "g.112541460G>A" "" "" "" "RBM20(NM_001134363.1):c.1093G>A (p.G365R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781702G>A" "" "VUS" "" "0000306797" "0" "30" "10" "112541468" "112541468" "subst" "0" "01943" "RBM20_000148" "g.112541468G>T" "" "" "" "RBM20(NM_001134363.1):c.1101G>T (p.R367=), RBM20(NM_001134363.3):c.1101G>T (p.R367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781710G>T" "" "likely benign" "" "0000306798" "0" "30" "10" "112541502" "112541502" "subst" "0.000487115" "01943" "RBM20_000150" "g.112541502G>A" "" "" "" "RBM20(NM_001134363.1):c.1135G>A (p.G379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781744G>A" "" "likely benign" "" "0000306799" "0" "50" "10" "112404325" "112404325" "subst" "8.50847E-6" "01943" "RBM20_000021" "g.112404325C>T" "" "" "" "RBM20(NM_001134363.1):c.113C>T (p.P38L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644567C>T" "" "VUS" "" "0000306800" "0" "30" "10" "112404326" "112404326" "subst" "0.00028183" "01943" "RBM20_000022" "g.112404326G>T" "" "" "" "RBM20(NM_001134363.1):c.114G>T (p.P38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644568G>T" "" "likely benign" "" "0000306801" "0" "30" "10" "112541546" "112541546" "subst" "0.000650256" "01943" "RBM20_000154" "g.112541546C>T" "" "" "" "RBM20(NM_001134363.1):c.1179C>T (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781788C>T" "" "likely benign" "" "0000306802" "0" "50" "10" "112541568" "112541568" "subst" "6.71141E-6" "01943" "RBM20_000155" "g.112541568G>A" "" "" "" "RBM20(NM_001134363.1):c.1201G>A (p.D401N), RBM20(NM_001134363.3):c.1201G>A (p.D401N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781810G>A" "" "VUS" "" "0000306803" "0" "50" "10" "112541587" "112541587" "subst" "0" "01943" "RBM20_000156" "g.112541587C>T" "" "" "" "RBM20(NM_001134363.1):c.1220C>T (p.P407L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781829C>T" "" "VUS" "" "0000306804" "0" "50" "10" "112541634" "112541634" "subst" "0" "01943" "RBM20_000157" "g.112541634G>T" "" "" "" "RBM20(NM_001134363.1):c.1267G>T (p.D423Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781876G>T" "" "VUS" "" "0000306806" "0" "30" "10" "112543134" "112543134" "subst" "0.000930001" "01943" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110783376T>C" "" "likely benign" "" "0000306807" "0" "30" "10" "112543156" "112543156" "subst" "3.2765E-5" "01943" "RBM20_000160" "g.112543156C>T" "" "" "" "RBM20(NM_001134363.1):c.1308C>T (p.H436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110783398C>T" "" "likely benign" "" "0000306808" "0" "50" "10" "112544109" "112544109" "subst" "0" "01943" "RBM20_000163" "g.112544109C>T" "" "" "" "RBM20(NM_001134363.1):c.1348C>T (p.R450W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784351C>T" "" "VUS" "" "0000306809" "0" "10" "10" "112544125" "112544125" "subst" "0.00554186" "01943" "RBM20_000008" "g.112544125C>T" "" "" "" "RBM20(NM_001134363.1):c.1364C>T (p.S455L), RBM20(NM_001134363.3):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784367C>T" "" "benign" "" "0000306810" "0" "30" "10" "112544139" "112544139" "subst" "9.42431E-5" "01943" "RBM20_000164" "g.112544139T>C" "" "" "" "RBM20(NM_001134363.1):c.1378T>C (p.L460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784381T>C" "" "likely benign" "" "0000306811" "0" "30" "10" "112544530" "112544531" "del" "0" "01943" "RBM20_000165" "g.112544530_112544531del" "" "" "" "RBM20(NM_001134363.1):c.1430-20_1430-19delTT, RBM20(NM_001134363.3):c.1430-20_1430-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784772_110784773del" "" "likely benign" "" "0000306812" "0" "10" "10" "112404358" "112404359" "del" "0" "01943" "RBM20_000027" "g.112404358_112404359del" "" "" "" "RBM20(NM_001134363.1):c.146_147delAG (p.Q49Pfs*29), RBM20(NM_001134363.3):c.146_147delAG (p.Q49Pfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644600_110644601del" "" "benign" "" "0000306813" "0" "30" "10" "112404359" "112404359" "subst" "0" "01943" "RBM20_000028" "g.112404359G>C" "" "" "" "RBM20(NM_001134363.1):c.147G>C (p.Q49H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644601G>C" "" "likely benign" "" "0000306814" "0" "10" "10" "112544669" "112544669" "subst" "0.00267306" "01943" "RBM20_000170" "g.112544669C>G" "" "" "" "RBM20(NM_001134363.1):c.1527+22C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784911C>G" "" "benign" "" "0000306815" "0" "10" "10" "112544655" "112544655" "subst" "0.184473" "01943" "RBM20_000168" "g.112544655C>T" "" "" "" "RBM20(NM_001134363.1):c.1527+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110784897C>T" "" "benign" "" "0000306816" "0" "30" "10" "112404365" "112404365" "subst" "0" "01943" "RBM20_000031" "g.112404365G>C" "" "" "" "RBM20(NM_001134363.1):c.153G>C (p.P51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644607G>C" "" "likely benign" "" "0000306817" "0" "30" "10" "112404371" "112404371" "subst" "0" "01943" "RBM20_000032" "g.112404371G>C" "" "" "" "RBM20(NM_001134363.1):c.159G>C (p.P53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644613G>C" "" "likely benign" "" "0000306818" "0" "30" "10" "112557340" "112557340" "subst" "0.00018431" "01943" "RBM20_000060" "g.112557340C>T" "" "" "" "RBM20(NM_001134363.1):c.1602C>T (p.D534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110797582C>T" "" "likely benign" "" "0000306819" "0" "10" "10" "112404376" "112404378" "del" "0" "01943" "RBM20_000033" "g.112404376_112404378del" "" "" "" "RBM20(NM_001134363.1):c.164_166delAAG (p.Q55_A56delinsP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644618_110644620del" "" "benign" "" "0000306820" "0" "30" "10" "112404378" "112404378" "subst" "0" "01943" "RBM20_000034" "g.112404378G>C" "" "" "" "RBM20(NM_001134363.1):c.166G>C (p.A56P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644620G>C" "" "likely benign" "" "0000306821" "0" "10" "10" "112404381" "112404386" "del" "0" "01943" "RBM20_000035" "g.112404381_112404386del" "" "" "" "RBM20(NM_001134363.1):c.169_174delGGCCTA (p.G57_L58del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644623_110644628del" "" "benign" "" "0000306822" "0" "30" "10" "112559624" "112559624" "subst" "3.92958E-5" "01943" "RBM20_000063" "g.112559624G>A" "" "" "" "RBM20(NM_001134363.1):c.1748G>A (p.G583D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110799866G>A" "" "likely benign" "" "0000306823" "0" "30" "10" "112570154" "112570154" "subst" "4.62639E-5" "01943" "RBM20_000066" "g.112570154C>T" "" "" "" "RBM20(NM_001134363.1):c.1814C>T (p.A605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810396C>T" "" "likely benign" "" "0000306824" "0" "30" "10" "112404398" "112404398" "subst" "0" "01943" "RBM20_000036" "g.112404398C>A" "" "" "" "RBM20(NM_001134363.1):c.186C>A (p.I62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644640C>A" "" "likely benign" "" "0000306825" "0" "10" "10" "112570243" "112570243" "subst" "0.362924" "01943" "RBM20_000072" "g.112570243T>C" "" "" "" "RBM20(NM_001134363.1):c.1880+23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810485T>C" "" "benign" "" "0000306826" "0" "30" "10" "112570230" "112570230" "dup" "0" "01943" "RBM20_000070" "g.112570230dup" "" "" "" "RBM20(NM_001134363.1):c.1880+10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110810472dup" "" "likely benign" "" "0000306827" "0" "10" "10" "112572033" "112572033" "subst" "0.000986655" "01943" "RBM20_000073" "g.112572033C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-3C>T (p.?), RBM20(NM_001134363.3):c.1881-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812275C>T" "" "benign" "" "0000306828" "0" "70" "10" "112572055" "112572055" "subst" "0" "01943" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812297C>T" "" "likely pathogenic" "" "0000306829" "0" "50" "10" "112572067" "112572067" "subst" "0" "01943" "RBM20_000077" "g.112572067C>A" "" "" "" "RBM20(NM_001134363.1):c.1912C>A (p.P638T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812309C>A" "" "VUS" "" "0000306830" "0" "10" "10" "112572069" "112572069" "subst" "0.00370271" "01943" "RBM20_000078" "g.112572069G>A" "" "" "" "RBM20(NM_001134363.1):c.1914G>A (p.P638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812311G>A" "" "benign" "" "0000306831" "0" "30" "10" "112572124" "112572125" "delins" "0" "01943" "RBM20_000081" "g.112572124_112572125delinsAG" "" "" "" "RBM20(NM_001134363.1):c.1969_1970delTCinsAG (p.S657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812366_110812367delinsAG" "" "likely benign" "" "0000306832" "0" "50" "10" "112572130" "112572130" "subst" "1.33964E-5" "01943" "RBM20_000083" "g.112572130C>T" "" "" "" "RBM20(NM_001134363.1):c.1975C>T (p.H659Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812372C>T" "" "VUS" "" "0000306833" "0" "10" "10" "112572141" "112572141" "subst" "0.00290028" "01943" "RBM20_000084" "g.112572141G>A" "" "" "" "RBM20(NM_001134363.1):c.1986G>A (p.P662=), RBM20(NM_001134363.3):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812383G>A" "" "benign" "" "0000306834" "0" "30" "10" "112572147" "112572147" "subst" "0.00158622" "01943" "RBM20_000085" "g.112572147C>T" "" "" "" "RBM20(NM_001134363.1):c.1992C>T (p.P664=), RBM20(NM_001134363.3):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812389C>T" "" "likely benign" "" "0000306835" "0" "50" "10" "112572244" "112572244" "subst" "0.000287891" "01943" "RBM20_000088" "g.112572244G>A" "" "" "" "RBM20(NM_001134363.1):c.2089G>A (p.G697R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812486G>A" "" "VUS" "" "0000306836" "0" "30" "10" "112572368" "112572368" "subst" "0.000583237" "01943" "RBM20_000010" "g.112572368C>T" "" "" "" "RBM20(NM_001134363.1):c.2213C>T (p.P738L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812610C>T" "" "likely benign" "" "0000306837" "0" "10" "10" "112572458" "112572458" "subst" "0.998176" "01943" "RBM20_000096" "g.112572458G>C" "" "" "" "RBM20(NM_001134363.1):c.2303G>C (p.W768S), RBM20(NM_001134363.3):c.2303G>C (p.W768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812700G>C" "" "benign" "" "0000306838" "0" "10" "10" "112572458" "112572458" "subst" "0.0011499" "01943" "RBM20_000097" "g.112572458G>T" "" "" "" "RBM20(NM_001134363.1):c.2303G>T (p.W768L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812700G>T" "" "benign" "" "0000306839" "0" "30" "10" "112572492" "112572492" "subst" "2.64435E-5" "01943" "RBM20_000098" "g.112572492C>T" "" "" "" "RBM20(NM_001134363.1):c.2337C>T (p.P779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812734C>T" "" "likely benign" "" "0000306840" "0" "30" "10" "112540604" "112540604" "subst" "1.34713E-5" "01943" "RBM20_000038" "g.112540604G>A" "" "" "" "RBM20(NM_001134363.1):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780846G>A" "" "likely benign" "" "0000306841" "0" "30" "10" "112572579" "112572579" "subst" "0" "01943" "RBM20_000100" "g.112572579G>T" "" "" "" "RBM20(NM_001134363.1):c.2424G>T (p.G808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110812821G>T" "" "likely benign" "" "0000306842" "0" "30" "10" "112579912" "112579912" "subst" "2.64435E-5" "01943" "RBM20_000103" "g.112579912C>T" "" "" "" "RBM20(NM_001134363.1):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820154C>T" "" "likely benign" "" "0000306843" "0" "30" "10" "112579913" "112579913" "subst" "0.000165276" "01943" "RBM20_000104" "g.112579913G>A" "" "" "" "RBM20(NM_001134363.1):c.2634G>A (p.P878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110820155G>A" "" "likely benign" "" "0000306844" "0" "30" "10" "112581039" "112581039" "subst" "0.00383603" "01943" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821281G>A" "" "likely benign" "" "0000306845" "0" "50" "10" "112581114" "112581114" "subst" "0" "01943" "RBM20_000107" "g.112581114G>A" "" "" "" "RBM20(NM_001134363.1):c.2737G>A (p.E913K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821356G>A" "" "VUS" "" "0000306846" "0" "50" "10" "112581296" "112581296" "del" "0" "01943" "RBM20_000109" "g.112581296del" "" "" "" "RBM20(NM_001134363.1):c.2919delT (p.A974Qfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821538del" "" "VUS" "" "0000306847" "0" "30" "10" "112581330" "112581330" "subst" "0.000105357" "01943" "RBM20_000110" "g.112581330C>T" "" "" "" "RBM20(NM_001134363.1):c.2953C>T (p.P985S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821572C>T" "" "likely benign" "" "0000306848" "0" "50" "10" "112581363" "112581363" "subst" "1.31945E-5" "01943" "RBM20_000112" "g.112581363G>T" "" "" "" "RBM20(NM_001134363.1):c.2986G>T (p.D996Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821605G>T" "" "VUS" "" "0000306849" "0" "30" "10" "112581380" "112581380" "subst" "0" "01943" "RBM20_000113" "g.112581380C>G" "" "" "" "RBM20(NM_001134363.1):c.3003C>G (p.G1001=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821622C>G" "" "likely benign" "" "0000306850" "0" "30" "10" "112581424" "112581424" "subst" "0.000488985" "01943" "RBM20_000114" "g.112581424G>C" "" "" "" "RBM20(NM_001134363.1):c.3047G>C (p.G1016A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821666G>C" "" "likely benign" "" "0000306851" "0" "10" "10" "112581521" "112581521" "subst" "0.00324817" "01943" "RBM20_000115" "g.112581521C>T" "" "" "" "RBM20(NM_001134363.1):c.3144C>T (p.S1048=), RBM20(NM_001134363.3):c.3144C>T (p.S1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821763C>T" "" "benign" "" "0000306852" "0" "30" "10" "112581547" "112581547" "subst" "0.00937298" "01943" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110821789G>A" "" "likely benign" "" "0000306853" "0" "30" "10" "112583218" "112583218" "subst" "0.00543522" "01943" "RBM20_000121" "g.112583218C>T" "" "" "" "RBM20(NM_001134363.1):c.3317-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823460C>T" "" "likely benign" "" "0000306854" "0" "50" "10" "112583265" "112583265" "subst" "1.34716E-5" "01943" "RBM20_000124" "g.112583265C>T" "" "" "" "RBM20(NM_001134363.1):c.3344C>T (p.S1115F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823507C>T" "" "VUS" "" "0000306855" "0" "30" "10" "112583294" "112583294" "subst" "0.00358856" "01943" "RBM20_000005" "g.112583294G>A" "" "" "" "RBM20(NM_001134363.1):c.3373G>A (p.E1125K), RBM20(NM_001134363.3):c.3373G>A (p.E1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110823536G>A" "" "likely benign" "" "0000306856" "0" "10" "10" "112590809" "112590809" "subst" "0.000656292" "01943" "RBM20_000127" "g.112590809C>T" "" "" "" "RBM20(NM_001134363.1):c.3452-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831051C>T" "" "benign" "" "0000306857" "0" "10" "10" "112590810" "112590810" "subst" "0.993736" "01943" "RBM20_000128" "g.112590810G>C" "" "" "" "RBM20(NM_001134363.1):c.3452-9G>C, RBM20(NM_001134363.3):c.3452-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831052G>C" "" "benign" "" "0000306858" "0" "30" "10" "112590871" "112590871" "subst" "0.000107648" "01943" "RBM20_000129" "g.112590871G>A" "" "" "" "RBM20(NM_001134363.1):c.3504G>A (p.L1168=), RBM20(NM_001134363.3):c.3504G>A (p.L1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110831113G>A" "" "likely benign" "" "0000306859" "0" "30" "10" "112540730" "112540730" "subst" "0" "01943" "RBM20_000042" "g.112540730C>T" "" "" "" "RBM20(NM_001134363.1):c.363C>T (p.N121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110780972C>T" "" "likely benign" "" "0000306860" "0" "10" "10" "112595719" "112595719" "subst" "0.802444" "01943" "RBM20_000136" "g.112595719G>C" "" "" "" "RBM20(NM_001134363.1):c.3667G>C (p.E1223Q), RBM20(NM_001134363.3):c.3667G>C (p.E1223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110835961G>C" "" "benign" "" "0000306861" "0" "70" "10" "112540781" "112540781" "del" "0" "01943" "RBM20_000043" "g.112540781del" "" "" "" "RBM20(NM_001134363.1):c.414delG (p.R138Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781023del" "" "likely pathogenic" "" "0000306862" "0" "50" "10" "112540815" "112540815" "subst" "0.00119208" "01943" "RBM20_000046" "g.112540815G>A" "" "" "" "RBM20(NM_001134363.1):c.448G>A (p.A150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781057G>A" "" "VUS" "" "0000306863" "0" "70" "10" "112540835" "112540837" "del" "0" "01943" "RBM20_000048" "g.112540835_112540837del" "" "" "" "RBM20(NM_001134363.1):c.468_470delTGC (p.A158del), RBM20(NM_001134363.3):c.468_470delTGC (p.A158del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781077_110781079del" "" "likely pathogenic" "" "0000306864" "0" "10" "10" "112540884" "112540884" "subst" "0.00496542" "01943" "RBM20_000049" "g.112540884C>A" "" "" "" "RBM20(NM_001134363.1):c.517C>A (p.P173T), RBM20(NM_001134363.3):c.517C>A (p.P173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781126C>A" "" "benign" "" "0000306865" "0" "10" "10" "112540897" "112540897" "subst" "0.000318323" "01943" "RBM20_000050" "g.112540897C>T" "" "" "" "RBM20(NM_001134363.1):c.530C>T (p.T177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781139C>T" "" "benign" "" "0000306866" "0" "50" "10" "112540911" "112540911" "subst" "0.000106396" "01943" "RBM20_000051" "g.112540911C>A" "" "" "" "RBM20(NM_001134363.1):c.544C>A (p.P182T), RBM20(NM_001134363.3):c.544C>A (p.P182T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781153C>A" "" "VUS" "" "0000306867" "0" "10" "10" "112541062" "112541062" "subst" "0.00569781" "01943" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781304G>A" "" "benign" "" "0000306868" "0" "50" "10" "112541068" "112541068" "subst" "0" "01943" "RBM20_000055" "g.112541068C>T" "" "" "" "RBM20(NM_001134363.1):c.701C>T (p.A234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781310C>T" "" "VUS" "" "0000306869" "0" "30" "10" "112541174" "112541174" "subst" "0" "01943" "RBM20_000141" "g.112541174C>G" "" "" "" "RBM20(NM_001134363.1):c.807C>G (p.H269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781416C>G" "" "likely benign" "" "0000306870" "0" "10" "10" "112404302" "112404302" "subst" "0.142613" "01943" "RBM20_000020" "g.112404302G>A" "" "" "" "RBM20(NM_001134363.1):c.90G>A (p.R30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110644544G>A" "" "benign" "" "0000306871" "0" "30" "10" "112541336" "112541336" "subst" "0" "01943" "RBM20_000146" "g.112541336T>C" "" "" "" "RBM20(NM_001134363.1):c.969T>C (p.H323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110781578T>C" "" "likely benign" "" "0000368361" "0" "50" "10" "112541140" "112541140" "subst" "2.01922E-5" "02438" "RBM20_000138" "g.112541140C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs749285793" "0" "" "" "g.110781382C>T" "" "VUS" "" "0000455428" "20" "30" "10" "112541506" "112541506" "subst" "1.33679E-5" "00006" "RBM20_000176" "g.112541506G>A" "" "{PMID:Zhang 2018:30276801}" "" "G1139A" "" "Germline" "no" "" "0" "" "" "g.110781748G>A" "" "likely benign" "" "0000470394" "10" "70" "10" "112572055" "112572055" "subst" "0" "02588" "RBM20_000076" "g.112572055C>T" "" "{PMID:Pantou 2018:30557877}" "" "" "" "Germline" "-" "rs796734066" "0" "" "" "g.110812297C>T" "" "likely pathogenic" "" "0000470405" "0" "50" "10" "112541047" "112541047" "subst" "0.00139415" "02588" "RBM20_000177" "g.112541047G>T" "" "{PMID:Monaco 2018:30611920}" "" "608G>T (Gly227Val)" "" "Unknown" "" "" "0" "" "" "g.110781289G>T" "" "VUS" "" "0000539032" "0" "30" "10" "112404244" "112404244" "subst" "0" "02327" "RBM20_000178" "g.112404244C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644486C>T" "" "likely benign" "" "0000539033" "0" "10" "10" "112404302" "112404302" "subst" "0.142613" "02327" "RBM20_000020" "g.112404302G>A" "" "" "" "RBM20(NM_001134363.1):c.90G>A (p.R30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644544G>A" "" "benign" "" "0000539034" "0" "50" "10" "112404321" "112404321" "subst" "0" "02325" "RBM20_000179" "g.112404321G>C" "" "" "" "RBM20(NM_001134363.3):c.109G>C (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644563G>C" "" "VUS" "" "0000539035" "0" "10" "10" "112404340" "112404342" "dup" "0" "02330" "RBM20_000180" "g.112404340_112404342dup" "" "" "" "RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644582_110644584dup" "" "benign" "" "0000539036" "0" "10" "10" "112404340" "112404342" "dup" "0" "01943" "RBM20_000180" "g.112404340_112404342dup" "" "" "" "RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644582_110644584dup" "" "benign" "" "0000539037" "0" "30" "10" "112404347" "112404347" "subst" "8.65441E-6" "02327" "RBM20_000181" "g.112404347G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644589G>C" "" "likely benign" "" "0000539038" "0" "30" "10" "112404350" "112404350" "subst" "0" "01943" "RBM20_000182" "g.112404350G>C" "" "" "" "RBM20(NM_001134363.1):c.138G>C (p.P46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644592G>C" "" "likely benign" "" "0000539039" "0" "30" "10" "112404353" "112404353" "subst" "0" "01943" "RBM20_000183" "g.112404353G>C" "" "" "" "RBM20(NM_001134363.1):c.141G>C (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644595G>C" "" "likely benign" "" "0000539040" "0" "50" "10" "112404353" "112404354" "del" "0" "02327" "RBM20_000184" "g.112404353_112404354del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644595_110644596del" "" "VUS" "" "0000539041" "0" "30" "10" "112404358" "112404358" "subst" "0" "02326" "RBM20_000026" "g.112404358A>C" "" "" "" "RBM20(NM_001134363.1):c.146A>C (p.Q49P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644600A>C" "" "likely benign" "" "0000539042" "0" "30" "10" "112404362" "112404362" "subst" "0" "02326" "RBM20_000030" "g.112404362A>C" "" "" "" "RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644604A>C" "" "likely benign" "" "0000539043" "0" "30" "10" "112404376" "112404376" "subst" "0" "01943" "RBM20_000185" "g.112404376A>C" "" "" "" "RBM20(NM_001134363.1):c.164A>C (p.Q55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644618A>C" "" "likely benign" "" "0000539044" "0" "30" "10" "112404376" "112404376" "subst" "0" "02327" "RBM20_000185" "g.112404376A>C" "" "" "" "RBM20(NM_001134363.1):c.164A>C (p.Q55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644618A>C" "" "likely benign" "" "0000539045" "0" "50" "10" "112540614" "112540614" "subst" "6.67619E-6" "02330" "RBM20_000186" "g.112540614C>A" "" "" "" "RBM20(NM_001134363.1):c.247C>A (p.L83I), RBM20(NM_001134363.3):c.247C>A (p.L83I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780856C>A" "" "VUS" "" "0000539046" "0" "10" "10" "112540622" "112540622" "subst" "0" "02327" "RBM20_000187" "g.112540622A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780864A>C" "" "benign" "" "0000539047" "0" "30" "10" "112540647" "112540647" "subst" "0.000363473" "02330" "RBM20_000188" "g.112540647C>T" "" "" "" "RBM20(NM_001134363.1):c.280C>T (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780889C>T" "" "likely benign" "" "0000539048" "0" "30" "10" "112540647" "112540647" "subst" "0.000363473" "02327" "RBM20_000188" "g.112540647C>T" "" "" "" "RBM20(NM_001134363.1):c.280C>T (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780889C>T" "" "likely benign" "" "0000539049" "0" "50" "10" "112540786" "112540786" "del" "0" "02327" "RBM20_000189" "g.112540786del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781028del" "" "VUS" "" "0000539050" "0" "10" "10" "112540815" "112540815" "subst" "0.00119208" "02330" "RBM20_000046" "g.112540815G>A" "" "" "" "RBM20(NM_001134363.1):c.448G>A (p.A150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781057G>A" "" "benign" "" "0000539051" "0" "50" "10" "112540816" "112540816" "subst" "0" "02330" "RBM20_000190" "g.112540816C>T" "" "" "" "RBM20(NM_001134363.1):c.449C>T (p.A150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781058C>T" "" "VUS" "" "0000539052" "0" "50" "10" "112540855" "112540855" "subst" "2.63151E-5" "02330" "RBM20_000191" "g.112540855G>A" "" "" "" "RBM20(NM_001134363.1):c.488G>A (p.R163Q), RBM20(NM_001134363.3):c.488G>A (p.R163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781097G>A" "" "VUS" "" "0000539053" "0" "50" "10" "112540855" "112540855" "subst" "2.63151E-5" "01943" "RBM20_000191" "g.112540855G>A" "" "" "" "RBM20(NM_001134363.1):c.488G>A (p.R163Q), RBM20(NM_001134363.3):c.488G>A (p.R163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781097G>A" "" "VUS" "" "0000539054" "0" "30" "10" "112540855" "112540855" "subst" "2.63151E-5" "02325" "RBM20_000191" "g.112540855G>A" "" "" "" "RBM20(NM_001134363.1):c.488G>A (p.R163Q), RBM20(NM_001134363.3):c.488G>A (p.R163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781097G>A" "" "likely benign" "" "0000539056" "0" "10" "10" "112540884" "112540884" "subst" "0.00496542" "02327" "RBM20_000049" "g.112540884C>A" "" "" "" "RBM20(NM_001134363.1):c.517C>A (p.P173T), RBM20(NM_001134363.3):c.517C>A (p.P173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781126C>A" "" "benign" "" "0000539057" "0" "30" "10" "112540897" "112540897" "subst" "0.000318323" "02326" "RBM20_000050" "g.112540897C>T" "" "" "" "RBM20(NM_001134363.1):c.530C>T (p.T177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781139C>T" "" "likely benign" "" "0000539058" "0" "10" "10" "112541047" "112541047" "subst" "0.00139415" "02330" "RBM20_000177" "g.112541047G>T" "" "" "" "RBM20(NM_001134363.1):c.680G>T (p.G227V), RBM20(NM_001134363.3):c.680G>T (p.G227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781289G>T" "" "benign" "" "0000539059" "0" "30" "10" "112541047" "112541047" "subst" "0.00139415" "01943" "RBM20_000177" "g.112541047G>T" "" "" "" "RBM20(NM_001134363.1):c.680G>T (p.G227V), RBM20(NM_001134363.3):c.680G>T (p.G227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781289G>T" "" "likely benign" "" "0000539060" "0" "30" "10" "112541047" "112541047" "subst" "0.00139415" "02325" "RBM20_000177" "g.112541047G>T" "" "" "" "RBM20(NM_001134363.1):c.680G>T (p.G227V), RBM20(NM_001134363.3):c.680G>T (p.G227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781289G>T" "" "likely benign" "" "0000539061" "0" "30" "10" "112541062" "112541062" "subst" "0.00569781" "01804" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781304G>A" "" "likely benign" "" "0000539062" "0" "30" "10" "112541152" "112541152" "subst" "0.000316388" "01943" "RBM20_000140" "g.112541152C>G" "" "" "" "RBM20(NM_001134363.1):c.785C>G (p.T262S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781394C>G" "" "likely benign" "" "0000539063" "0" "70" "10" "112541213" "112541220" "del" "0" "02325" "RBM20_000192" "g.112541213_112541220del" "" "" "" "RBM20(NM_001134363.1):c.846_853delTTACGGAC (p.Y283Qfs*14), RBM20(NM_001134363.3):c.846_853delTTACGGAC (p.Y283Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781455_110781462del" "" "likely pathogenic" "" "0000539064" "0" "30" "10" "112541216" "112541216" "subst" "0.000128105" "01943" "RBM20_000193" "g.112541216C>T" "" "" "" "RBM20(NM_001134363.1):c.849C>T (p.Y283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781458C>T" "" "likely benign" "" "0000539065" "0" "10" "10" "112541216" "112541216" "subst" "0.000128105" "02327" "RBM20_000193" "g.112541216C>T" "" "" "" "RBM20(NM_001134363.1):c.849C>T (p.Y283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781458C>T" "" "benign" "" "0000539066" "0" "30" "10" "112541217" "112541217" "subst" "0.000316865" "02330" "RBM20_000004" "g.112541217G>A" "" "" "" "RBM20(NM_001134363.1):c.850G>A (p.G284R, p.(Gly284Arg)), RBM20(NM_001134363.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781459G>A" "" "likely benign" "" "0000539067" "0" "50" "10" "112541217" "112541217" "subst" "0.000316865" "01943" "RBM20_000004" "g.112541217G>A" "" "" "" "RBM20(NM_001134363.1):c.850G>A (p.G284R, p.(Gly284Arg)), RBM20(NM_001134363.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781459G>A" "" "VUS" "" "0000539068" "0" "50" "10" "112541217" "112541217" "subst" "0.000316865" "01804" "RBM20_000004" "g.112541217G>A" "" "" "" "RBM20(NM_001134363.1):c.850G>A (p.G284R, p.(Gly284Arg)), RBM20(NM_001134363.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781459G>A" "" "VUS" "" "0000539069" "0" "30" "10" "112541217" "112541217" "subst" "0.000316865" "02325" "RBM20_000004" "g.112541217G>A" "" "" "" "RBM20(NM_001134363.1):c.850G>A (p.G284R, p.(Gly284Arg)), RBM20(NM_001134363.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781459G>A" "" "likely benign" "" "0000539070" "0" "30" "10" "112541217" "112541217" "subst" "0.000316865" "02326" "RBM20_000004" "g.112541217G>A" "" "" "" "RBM20(NM_001134363.1):c.850G>A (p.G284R, p.(Gly284Arg)), RBM20(NM_001134363.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781459G>A" "" "likely benign" "" "0000539071" "0" "50" "10" "112541394" "112541394" "subst" "0.000113747" "02330" "RBM20_000194" "g.112541394C>T" "" "" "" "RBM20(NM_001134363.1):c.1027C>T (p.H343Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781636C>T" "" "VUS" "" "0000539072" "0" "50" "10" "112541416" "112541416" "subst" "0" "02327" "RBM20_000195" "g.112541416A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781658A>G" "" "VUS" "" "0000539073" "0" "30" "10" "112541420" "112541420" "subst" "0.000322581" "02327" "RBM20_000196" "g.112541420C>T" "" "" "" "RBM20(NM_001134363.1):c.1053C>T (p.D351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781662C>T" "" "likely benign" "" "0000539074" "0" "10" "10" "112541420" "112541420" "subst" "0.000322581" "02326" "RBM20_000196" "g.112541420C>T" "" "" "" "RBM20(NM_001134363.1):c.1053C>T (p.D351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781662C>T" "" "benign" "" "0000539075" "0" "10" "10" "112541495" "112541495" "subst" "4.67439E-5" "02330" "RBM20_000197" "g.112541495C>T" "" "" "" "RBM20(NM_001134363.1):c.1128C>T (p.I376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781737C>T" "" "benign" "" "0000539076" "0" "30" "10" "112541496" "112541496" "subst" "1.33522E-5" "02327" "RBM20_000198" "g.112541496G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781738G>A" "" "likely benign" "" "0000539077" "0" "30" "10" "112541538" "112541538" "subst" "0.000154044" "01943" "RBM20_000199" "g.112541538G>A" "" "" "" "RBM20(NM_001134363.1):c.1171G>A (p.V391M), RBM20(NM_001134363.3):c.1171G>A (p.V391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781780G>A" "" "likely benign" "" "0000539078" "0" "30" "10" "112541538" "112541538" "subst" "0.000154044" "02325" "RBM20_000199" "g.112541538G>A" "" "" "" "RBM20(NM_001134363.1):c.1171G>A (p.V391M), RBM20(NM_001134363.3):c.1171G>A (p.V391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781780G>A" "" "likely benign" "" "0000539079" "0" "30" "10" "112541539" "112541539" "subst" "0.000422167" "01943" "RBM20_000200" "g.112541539T>C" "" "" "" "RBM20(NM_001134363.1):c.1172T>C (p.V391A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781781T>C" "" "likely benign" "" "0000539080" "0" "30" "10" "112541546" "112541546" "subst" "0.000650256" "02327" "RBM20_000154" "g.112541546C>T" "" "" "" "RBM20(NM_001134363.1):c.1179C>T (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781788C>T" "" "likely benign" "" "0000539081" "0" "30" "10" "112541546" "112541546" "subst" "0.000650256" "02326" "RBM20_000154" "g.112541546C>T" "" "" "" "RBM20(NM_001134363.1):c.1179C>T (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781788C>T" "" "likely benign" "" "0000539082" "0" "50" "10" "112541568" "112541568" "subst" "6.71141E-6" "02327" "RBM20_000155" "g.112541568G>A" "" "" "" "RBM20(NM_001134363.1):c.1201G>A (p.D401N), RBM20(NM_001134363.3):c.1201G>A (p.D401N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781810G>A" "" "VUS" "" "0000539083" "0" "50" "10" "112541624" "112541624" "subst" "0" "02330" "RBM20_000201" "g.112541624G>C" "" "" "" "RBM20(NM_001134363.1):c.1257G>C (p.K419N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781866G>C" "" "VUS" "" "0000539084" "0" "30" "10" "112541650" "112541650" "subst" "0.000120987" "02327" "RBM20_000056" "g.112541650G>T" "" "" "" "RBM20(NM_001134363.1):c.1275+8G>T, RBM20(NM_001134363.3):c.1275+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781892G>T" "" "likely benign" "" "0000539085" "0" "30" "10" "112543134" "112543134" "subst" "0.000930001" "02327" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110783376T>C" "" "likely benign" "" "0000539086" "0" "30" "10" "112543134" "112543134" "subst" "0.000930001" "02326" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110783376T>C" "" "likely benign" "" "0000539087" "0" "10" "10" "112544530" "112544531" "del" "0" "02330" "RBM20_000165" "g.112544530_112544531del" "" "" "" "RBM20(NM_001134363.1):c.1430-20_1430-19delTT, RBM20(NM_001134363.3):c.1430-20_1430-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784772_110784773del" "" "benign" "" "0000539088" "0" "50" "10" "112544556" "112544556" "subst" "0" "02330" "RBM20_000202" "g.112544556C>A" "" "" "" "RBM20(NM_001134363.1):c.1436C>A (p.A479D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784798C>A" "" "VUS" "" "0000539089" "0" "50" "10" "112544575" "112544575" "subst" "0.000121039" "01943" "RBM20_000166" "g.112544575A>G" "" "" "" "RBM20(NM_001134363.1):c.1455A>G (p.S485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784817A>G" "" "VUS" "" "0000539090" "0" "10" "10" "112544602" "112544602" "subst" "0" "02330" "RBM20_000203" "g.112544602C>T" "" "" "" "RBM20(NM_001134363.1):c.1482C>T (p.F494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784844C>T" "" "benign" "" "0000539091" "0" "30" "10" "112544602" "112544602" "subst" "0" "01943" "RBM20_000203" "g.112544602C>T" "" "" "" "RBM20(NM_001134363.1):c.1482C>T (p.F494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784844C>T" "" "likely benign" "" "0000539092" "0" "30" "10" "112544665" "112544665" "subst" "0" "02326" "RBM20_000169" "g.112544665T>G" "" "" "" "RBM20(NM_001134363.1):c.1527+18T>G, RBM20(NM_001134363.3):c.1527+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784907T>G" "" "likely benign" "" "0000539093" "0" "50" "10" "112557265" "112557265" "subst" "0" "01943" "RBM20_000058" "g.112557265G>C" "" "" "" "RBM20(NM_001134363.1):c.1528-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797507G>C" "" "VUS" "" "0000539094" "0" "50" "10" "112557265" "112557265" "subst" "0" "02327" "RBM20_000058" "g.112557265G>C" "" "" "" "RBM20(NM_001134363.1):c.1528-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797507G>C" "" "VUS" "" "0000539095" "0" "50" "10" "112557265" "112557265" "subst" "0" "02326" "RBM20_000058" "g.112557265G>C" "" "" "" "RBM20(NM_001134363.1):c.1528-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797507G>C" "" "VUS" "" "0000539096" "0" "10" "10" "112557340" "112557340" "subst" "0.00018431" "02326" "RBM20_000060" "g.112557340C>T" "" "" "" "RBM20(NM_001134363.1):c.1602C>T (p.D534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797582C>T" "" "benign" "" "0000539097" "0" "30" "10" "112557371" "112557371" "subst" "7.23085E-5" "02325" "RBM20_000014" "g.112557371G>A" "" "" "" "RBM20(NM_001134363.1):c.1633G>A (p.V545I), RBM20(NM_001134363.3):c.1633G>A (p.V545I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797613G>A" "" "likely benign" "" "0000539098" "0" "30" "10" "112557371" "112557371" "subst" "7.23085E-5" "02326" "RBM20_000014" "g.112557371G>A" "" "" "" "RBM20(NM_001134363.1):c.1633G>A (p.V545I), RBM20(NM_001134363.3):c.1633G>A (p.V545I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797613G>A" "" "likely benign" "" "0000539099" "0" "30" "10" "112557397" "112557397" "subst" "0.000138091" "02326" "RBM20_000061" "g.112557397G>A" "" "" "" "RBM20(NM_001134363.1):c.1659G>A (p.S553=), RBM20(NM_001134363.3):c.1659G>A (p.S553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797639G>A" "" "likely benign" "" "0000539101" "0" "50" "10" "112559642" "112559642" "subst" "6.55076E-6" "02325" "RBM20_000205" "g.112559642G>T" "" "" "" "RBM20(NM_001134363.1):c.1766G>T (p.R589L), RBM20(NM_001134363.3):c.1766G>T (p.R589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110799884G>T" "" "VUS" "" "0000539102" "0" "10" "10" "112570130" "112570130" "subst" "0.0352539" "02327" "RBM20_000065" "g.112570130G>C" "" "" "" "RBM20(NM_001134363.1):c.1801-11G>C, RBM20(NM_001134363.3):c.1801-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810372G>C" "" "benign" "" "0000539103" "0" "50" "10" "112570154" "112570154" "subst" "4.62639E-5" "02330" "RBM20_000066" "g.112570154C>T" "" "" "" "RBM20(NM_001134363.1):c.1814C>T (p.A605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810396C>T" "" "VUS" "" "0000539104" "0" "30" "10" "112570179" "112570179" "subst" "0" "01943" "RBM20_000206" "g.112570179C>T" "" "" "" "RBM20(NM_001134363.1):c.1839C>T (p.I613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810421C>T" "" "likely benign" "" "0000539105" "0" "10" "10" "112570224" "112570226" "dup" "0" "02330" "RBM20_000069" "g.112570224_112570226dup" "" "" "" "RBM20(NM_001134363.1):c.1880+4_1880+6dupAGG, RBM20(NM_001134363.3):c.1880+4_1880+6dup, RBM20(NM_001134363.3):c.1880+4_1880+6dupAGG, RBM20(NM_00113...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810466_110810468dup" "" "benign" "" "0000539106" "0" "10" "10" "112572017" "112572017" "subst" "3.80697E-5" "02330" "RBM20_000207" "g.112572017C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812259C>T" "" "benign" "" "0000539107" "0" "90" "10" "112572055" "112572055" "subst" "0" "02327" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812297C>T" "" "pathogenic" "" "0000539108" "0" "90" "10" "112572068" "112572068" "subst" "0" "02330" "RBM20_000208" "g.112572068C>T" "" "" "" "RBM20(NM_001134363.1):c.1913C>T (p.P638L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812310C>T" "" "pathogenic" "" "0000539109" "0" "10" "10" "112572069" "112572069" "subst" "0.00370271" "02327" "RBM20_000078" "g.112572069G>A" "" "" "" "RBM20(NM_001134363.1):c.1914G>A (p.P638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812311G>A" "" "benign" "" "0000539110" "0" "50" "10" "112572117" "112572117" "subst" "1.33542E-5" "02330" "RBM20_000209" "g.112572117C>T" "" "" "" "RBM20(NM_001134363.1):c.1962C>T (p.S654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812359C>T" "" "VUS" "" "0000539111" "0" "30" "10" "112572117" "112572117" "subst" "1.33542E-5" "02327" "RBM20_000209" "g.112572117C>T" "" "" "" "RBM20(NM_001134363.1):c.1962C>T (p.S654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812359C>T" "" "likely benign" "" "0000539112" "0" "50" "10" "112572124" "112572124" "subst" "6.67619E-6" "02327" "RBM20_000080" "g.112572124T>A" "" "" "" "RBM20(NM_001134363.1):c.1969T>A (p.S657T), RBM20(NM_001134363.3):c.1969T>A (p.S657T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812366T>A" "" "VUS" "" "0000539113" "0" "30" "10" "112572124" "112572125" "delins" "0" "02327" "RBM20_000081" "g.112572124_112572125delinsAG" "" "" "" "RBM20(NM_001134363.1):c.1969_1970delTCinsAG (p.S657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812366_110812367delinsAG" "" "likely benign" "" "0000539114" "0" "50" "10" "112572125" "112572125" "subst" "6.67913E-6" "02327" "RBM20_000082" "g.112572125C>G" "" "" "" "RBM20(NM_001134363.1):c.1970C>G (p.S657C), RBM20(NM_001134363.3):c.1970C>G (p.S657C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812367C>G" "" "VUS" "" "0000539115" "0" "30" "10" "112572141" "112572141" "subst" "0.00290028" "02327" "RBM20_000084" "g.112572141G>A" "" "" "" "RBM20(NM_001134363.1):c.1986G>A (p.P662=), RBM20(NM_001134363.3):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812383G>A" "" "likely benign" "" "0000539116" "0" "30" "10" "112572141" "112572141" "subst" "0.00290028" "02326" "RBM20_000084" "g.112572141G>A" "" "" "" "RBM20(NM_001134363.1):c.1986G>A (p.P662=), RBM20(NM_001134363.3):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812383G>A" "" "likely benign" "" "0000539117" "0" "10" "10" "112572147" "112572147" "subst" "0.00158622" "02327" "RBM20_000085" "g.112572147C>T" "" "" "" "RBM20(NM_001134363.1):c.1992C>T (p.P664=), RBM20(NM_001134363.3):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812389C>T" "" "benign" "" "0000539118" "0" "50" "10" "112572151" "112572151" "subst" "0.000153898" "02330" "RBM20_000210" "g.112572151C>T" "" "" "" "RBM20(NM_001134363.1):c.1996C>T (p.R666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812393C>T" "" "VUS" "" "0000539120" "0" "50" "10" "112572197" "112572197" "subst" "0.000133346" "01943" "RBM20_000171" "g.112572197A>G" "" "" "" "RBM20(NM_001134363.1):c.2042A>G (p.Y681C), RBM20(NM_001134363.3):c.2042A>G (p.Y681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812439A>G" "" "VUS" "" "0000539121" "0" "30" "10" "112572197" "112572197" "subst" "0.000133346" "02327" "RBM20_000171" "g.112572197A>G" "" "" "" "RBM20(NM_001134363.1):c.2042A>G (p.Y681C), RBM20(NM_001134363.3):c.2042A>G (p.Y681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812439A>G" "" "likely benign" "" "0000539122" "0" "30" "10" "112572271" "112572271" "subst" "7.36722E-5" "02327" "RBM20_000211" "g.112572271C>A" "" "" "" "RBM20(NM_001134363.1):c.2116C>A (p.P706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812513C>A" "" "likely benign" "" "0000539123" "0" "50" "10" "112572328" "112572328" "subst" "8.64626E-5" "01943" "RBM20_000212" "g.112572328G>A" "" "" "" "RBM20(NM_001134363.1):c.2173G>A (p.E725K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812570G>A" "" "VUS" "" "0000539124" "0" "70" "10" "112572331" "112572331" "subst" "0" "02327" "RBM20_000091" "g.112572331C>T" "" "" "" "RBM20(NM_001134363.3):c.2176C>T (p.R726*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812573C>T" "" "likely pathogenic" "" "0000539125" "0" "50" "10" "112572356" "112572356" "subst" "7.29327E-5" "02330" "RBM20_000213" "g.112572356G>A" "" "" "" "RBM20(NM_001134363.1):c.2201G>A (p.R734Q), RBM20(NM_001134363.3):c.2201G>A (p.R734Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812598G>A" "" "VUS" "" "0000539127" "0" "50" "10" "112572394" "112572394" "subst" "7.94344E-5" "01943" "RBM20_000011" "g.112572394C>T" "" "" "" "RBM20(NM_001134363.1):c.2239C>T (p.H747Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812636C>T" "" "VUS" "" "0000539128" "0" "70" "10" "112572402" "112572403" "del" "0" "02327" "RBM20_000214" "g.112572402_112572403del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812644_110812645del" "" "likely pathogenic" "" "0000539129" "0" "10" "10" "112572473" "112572473" "subst" "0.00074028" "02330" "RBM20_000215" "g.112572473A>G" "" "" "" "RBM20(NM_001134363.1):c.2318A>G (p.K773R), RBM20(NM_001134363.3):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812715A>G" "" "benign" "" "0000539130" "0" "30" "10" "112572473" "112572473" "subst" "0.00074028" "02327" "RBM20_000215" "g.112572473A>G" "" "" "" "RBM20(NM_001134363.1):c.2318A>G (p.K773R), RBM20(NM_001134363.3):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812715A>G" "" "likely benign" "" "0000539131" "0" "30" "10" "112572473" "112572473" "subst" "0.00074028" "02325" "RBM20_000215" "g.112572473A>G" "" "" "" "RBM20(NM_001134363.1):c.2318A>G (p.K773R), RBM20(NM_001134363.3):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812715A>G" "" "likely benign" "" "0000539132" "0" "50" "10" "112572506" "112572506" "subst" "6.61209E-6" "01943" "RBM20_000216" "g.112572506G>T" "" "" "" "RBM20(NM_001134363.1):c.2351G>T (p.R784M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812748G>T" "" "VUS" "" "0000539133" "0" "70" "10" "112572506" "112572506" "subst" "6.61209E-6" "02326" "RBM20_000216" "g.112572506G>T" "" "" "" "RBM20(NM_001134363.1):c.2351G>T (p.R784M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812748G>T" "" "likely pathogenic" "" "0000539134" "0" "10" "10" "112572513" "112572513" "subst" "5.95159E-5" "02330" "RBM20_000217" "g.112572513C>T" "" "" "" "RBM20(NM_001134363.1):c.2358C>T (p.D786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812755C>T" "" "benign" "" "0000539135" "0" "30" "10" "112572513" "112572513" "subst" "5.95159E-5" "02326" "RBM20_000217" "g.112572513C>T" "" "" "" "RBM20(NM_001134363.1):c.2358C>T (p.D786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812755C>T" "" "likely benign" "" "0000539136" "0" "50" "10" "112572527" "112572527" "subst" "6.61306E-6" "02330" "RBM20_000218" "g.112572527G>A" "" "" "" "RBM20(NM_001134363.1):c.2372G>A (p.R791Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812769G>A" "" "VUS" "" "0000539137" "0" "30" "10" "112572543" "112572543" "subst" "1.32312E-5" "01943" "RBM20_000219" "g.112572543C>G" "" "" "" "RBM20(NM_001134363.1):c.2388C>G (p.P796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812785C>G" "" "likely benign" "" "0000539138" "0" "30" "10" "112572579" "112572579" "subst" "0" "02327" "RBM20_000100" "g.112572579G>T" "" "" "" "RBM20(NM_001134363.1):c.2424G>T (p.G808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812821G>T" "" "likely benign" "" "0000539139" "0" "50" "10" "112572607" "112572607" "subst" "0.000296028" "01943" "RBM20_000220" "g.112572607G>T" "" "" "" "RBM20(NM_001134363.1):c.2452G>T (p.A818S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812849G>T" "" "VUS" "" "0000539141" "0" "50" "10" "112572652" "112572652" "subst" "1.21595E-5" "01943" "RBM20_000222" "g.112572652A>G" "" "" "" "RBM20(NM_001134363.1):c.2497A>G (p.R833G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812894A>G" "" "VUS" "" "0000539142" "0" "30" "10" "112579949" "112579949" "subst" "0.00403338" "02327" "RBM20_000105" "g.112579949A>G" "" "" "" "RBM20(NM_001134363.1):c.2655+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110820191A>G" "" "likely benign" "" "0000539143" "0" "50" "10" "112581040" "112581040" "subst" "0" "01943" "RBM20_000223" "g.112581040A>T" "" "" "" "RBM20(NM_001134363.1):c.2663A>T (p.D888V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821282A>T" "" "VUS" "" "0000539144" "0" "50" "10" "112581108" "112581108" "subst" "0" "02330" "RBM20_000224" "g.112581108G>A" "" "" "" "RBM20(NM_001134363.1):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821350G>A" "" "VUS" "" "0000539145" "0" "50" "10" "112581113" "112581113" "subst" "0" "02327" "RBM20_000225" "g.112581113C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821355C>G" "" "VUS" "" "0000539146" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "02330" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821380A>T" "" "VUS" "" "0000539147" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "01943" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821380A>T" "" "VUS" "" "0000539148" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "02325" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821380A>T" "" "VUS" "" "0000539149" "0" "30" "10" "112581264" "112581264" "subst" "0.000348231" "02325" "RBM20_000108" "g.112581264A>G" "" "" "" "RBM20(NM_001134363.1):c.2887A>G (p.K963E), RBM20(NM_001134363.3):c.2887A>G (p.K963E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821506A>G" "" "likely benign" "" "0000539150" "0" "30" "10" "112581264" "112581264" "subst" "0.000348231" "02326" "RBM20_000108" "g.112581264A>G" "" "" "" "RBM20(NM_001134363.1):c.2887A>G (p.K963E), RBM20(NM_001134363.3):c.2887A>G (p.K963E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821506A>G" "" "likely benign" "" "0000539151" "0" "30" "10" "112581282" "112581282" "subst" "0.000118334" "01943" "RBM20_000227" "g.112581282G>A" "" "" "" "RBM20(NM_001134363.1):c.2905G>A (p.V969I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821524G>A" "" "likely benign" "" "0000539152" "0" "30" "10" "112581293" "112581293" "subst" "0" "02327" "RBM20_000228" "g.112581293G>A" "" "" "" "RBM20(NM_001134363.1):c.2916G>A (p.G972=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821535G>A" "" "likely benign" "" "0000539153" "0" "50" "10" "112581366" "112581366" "subst" "3.29933E-5" "02330" "RBM20_000229" "g.112581366G>A" "" "" "" "RBM20(NM_001134363.1):c.2989G>A (p.V997M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821608G>A" "" "VUS" "" "0000539154" "0" "30" "10" "112581368" "112581368" "subst" "5.94256E-5" "02327" "RBM20_000230" "g.112581368G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821610G>A" "" "likely benign" "" "0000539155" "0" "50" "10" "112581453" "112581453" "subst" "3.96191E-5" "01943" "RBM20_000231" "g.112581453G>A" "" "" "" "RBM20(NM_001134363.1):c.3076G>A (p.E1026K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821695G>A" "" "VUS" "" "0000539156" "0" "30" "10" "112581486" "112581486" "subst" "6.60014E-6" "02326" "RBM20_000232" "g.112581486G>A" "" "" "" "RBM20(NM_001134363.1):c.3109G>A (p.V1037I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821728G>A" "" "likely benign" "" "0000539157" "0" "50" "10" "112581492" "112581492" "subst" "0.000217761" "02330" "RBM20_000003" "g.112581492C>T" "" "" "" "RBM20(NM_001134363.1):c.3115C>T (p.P1039S), RBM20(NM_001134363.3):c.3115C>T (p.P1039S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821734C>T" "" "VUS" "" "0000539158" "0" "30" "10" "112581492" "112581492" "subst" "0.000217761" "01943" "RBM20_000003" "g.112581492C>T" "" "" "" "RBM20(NM_001134363.1):c.3115C>T (p.P1039S), RBM20(NM_001134363.3):c.3115C>T (p.P1039S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821734C>T" "" "likely benign" "" "0000539159" "0" "30" "10" "112581492" "112581492" "subst" "0.000217761" "02327" "RBM20_000003" "g.112581492C>T" "" "" "" "RBM20(NM_001134363.1):c.3115C>T (p.P1039S), RBM20(NM_001134363.3):c.3115C>T (p.P1039S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821734C>T" "" "likely benign" "" "0000539160" "0" "30" "10" "112581492" "112581492" "subst" "0.000217761" "02325" "RBM20_000003" "g.112581492C>T" "" "" "" "RBM20(NM_001134363.1):c.3115C>T (p.P1039S), RBM20(NM_001134363.3):c.3115C>T (p.P1039S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821734C>T" "" "likely benign" "" "0000539161" "0" "30" "10" "112581492" "112581492" "subst" "0.000217761" "02326" "RBM20_000003" "g.112581492C>T" "" "" "" "RBM20(NM_001134363.1):c.3115C>T (p.P1039S), RBM20(NM_001134363.3):c.3115C>T (p.P1039S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821734C>T" "" "likely benign" "" "0000539162" "0" "10" "10" "112581521" "112581521" "subst" "0.00324817" "02327" "RBM20_000115" "g.112581521C>T" "" "" "" "RBM20(NM_001134363.1):c.3144C>T (p.S1048=), RBM20(NM_001134363.3):c.3144C>T (p.S1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821763C>T" "" "benign" "" "0000539163" "0" "30" "10" "112581547" "112581547" "subst" "0.00937298" "01804" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821789G>A" "" "likely benign" "" "0000539164" "0" "10" "10" "112581547" "112581547" "subst" "0.00937298" "02327" "RBM20_000116" "g.112581547G>A" "" "" "" "RBM20(NM_001134363.1):c.3170G>A (p.R1057Q), RBM20(NM_001134363.3):c.3170G>A (p.(Arg1057Gln), p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821789G>A" "" "benign" "" "0000539165" "0" "30" "10" "112581554" "112581554" "subst" "3.30447E-5" "02327" "RBM20_000233" "g.112581554A>G" "" "" "" "RBM20(NM_001134363.1):c.3177A>G (p.P1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821796A>G" "" "likely benign" "" "0000539166" "0" "30" "10" "112581594" "112581594" "subst" "8.60027E-5" "02327" "RBM20_000234" "g.112581594G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821836G>A" "" "likely benign" "" "0000539167" "0" "10" "10" "112581642" "112581642" "subst" "0.000456144" "02330" "RBM20_000235" "g.112581642C>G" "" "" "" "RBM20(NM_001134363.1):c.3265C>G (p.P1089A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821884C>G" "" "benign" "" "0000539168" "0" "30" "10" "112581642" "112581642" "subst" "0.000456144" "01943" "RBM20_000235" "g.112581642C>G" "" "" "" "RBM20(NM_001134363.1):c.3265C>G (p.P1089A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821884C>G" "" "likely benign" "" "0000539169" "0" "10" "10" "112581642" "112581642" "subst" "0.000456144" "02326" "RBM20_000235" "g.112581642C>G" "" "" "" "RBM20(NM_001134363.1):c.3265C>G (p.P1089A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821884C>G" "" "benign" "" "0000539170" "0" "30" "10" "112581648" "112581648" "subst" "2.64438E-5" "02326" "RBM20_000236" "g.112581648G>A" "" "" "" "RBM20(NM_001134363.1):c.3271G>A (p.E1091K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821890G>A" "" "likely benign" "" "0000539171" "0" "10" "10" "112581692" "112581692" "subst" "6.61673E-6" "02330" "RBM20_000237" "g.112581692G>A" "" "" "" "RBM20(NM_001134363.1):c.3315G>A (p.P1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821934G>A" "" "benign" "" "0000539172" "0" "30" "10" "112581692" "112581692" "subst" "6.61673E-6" "01943" "RBM20_000237" "g.112581692G>A" "" "" "" "RBM20(NM_001134363.1):c.3315G>A (p.P1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821934G>A" "" "likely benign" "" "0000539173" "0" "10" "10" "112583218" "112583218" "subst" "0.00543522" "02327" "RBM20_000121" "g.112583218C>T" "" "" "" "RBM20(NM_001134363.1):c.3317-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823460C>T" "" "benign" "" "0000539174" "0" "30" "10" "112583218" "112583218" "subst" "0.00543522" "02326" "RBM20_000121" "g.112583218C>T" "" "" "" "RBM20(NM_001134363.1):c.3317-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823460C>T" "" "likely benign" "" "0000539175" "0" "30" "10" "112583226" "112583226" "subst" "0" "02327" "RBM20_000238" "g.112583226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823468C>T" "" "likely benign" "" "0000539176" "0" "50" "10" "112583252" "112583252" "subst" "4.83005E-5" "02330" "RBM20_000239" "g.112583252G>A" "" "" "" "RBM20(NM_001134363.1):c.3331G>A (p.V1111M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823494G>A" "" "VUS" "" "0000539178" "0" "10" "10" "112583294" "112583294" "subst" "0.00358856" "02327" "RBM20_000005" "g.112583294G>A" "" "" "" "RBM20(NM_001134363.1):c.3373G>A (p.E1125K), RBM20(NM_001134363.3):c.3373G>A (p.E1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823536G>A" "" "benign" "" "0000539179" "0" "10" "10" "112583299" "112583299" "subst" "6.60886E-6" "02330" "RBM20_000240" "g.112583299G>A" "" "" "" "RBM20(NM_001134363.1):c.3378G>A (p.V1126=), RBM20(NM_001134363.3):c.3378G>A (p.V1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823541G>A" "" "benign" "" "0000539180" "0" "30" "10" "112583299" "112583299" "subst" "6.60886E-6" "02325" "RBM20_000240" "g.112583299G>A" "" "" "" "RBM20(NM_001134363.1):c.3378G>A (p.V1126=), RBM20(NM_001134363.3):c.3378G>A (p.V1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823541G>A" "" "likely benign" "" "0000539181" "0" "50" "10" "112583316" "112583316" "subst" "0" "02325" "RBM20_000241" "g.112583316T>G" "" "" "" "RBM20(NM_001134363.3):c.3395T>G (p.L1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823558T>G" "" "VUS" "" "0000539182" "0" "50" "10" "112590938" "112590938" "subst" "2.0232E-5" "01943" "RBM20_000242" "g.112590938C>A" "" "" "" "RBM20(NM_001134363.1):c.3571C>A (p.Q1191K), RBM20(NM_001134363.3):c.3571C>A (p.Q1191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110831180C>A" "" "VUS" "" "0000539183" "0" "50" "10" "112595630" "112595630" "subst" "2.74627E-5" "02327" "RBM20_000175" "g.112595630A>G" "" "" "" "RBM20(NM_001134363.1):c.3578A>G (p.Y1193C), RBM20(NM_001134363.3):c.3578A>G (p.Y1193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110835872A>G" "" "VUS" "" "0000539184" "0" "30" "10" "112595707" "112595707" "subst" "3.6859E-5" "02327" "RBM20_000243" "g.112595707G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110835949G>A" "" "likely benign" "" "0000539185" "0" "10" "10" "112595719" "112595719" "subst" "0.802444" "02327" "RBM20_000136" "g.112595719G>C" "" "" "" "RBM20(NM_001134363.1):c.3667G>C (p.E1223Q), RBM20(NM_001134363.3):c.3667G>C (p.E1223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110835961G>C" "" "benign" "" "0000612257" "0" "50" "10" "112404294" "112404294" "subst" "0" "02327" "RBM20_000244" "g.112404294G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644536G>A" "" "VUS" "" "0000612258" "0" "50" "10" "112404316" "112404316" "subst" "0" "02327" "RBM20_000245" "g.112404316C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644558C>A" "" "VUS" "" "0000612259" "0" "50" "10" "112404319" "112404319" "subst" "0" "02327" "RBM20_000246" "g.112404319C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644561C>G" "" "VUS" "" "0000612260" "0" "10" "10" "112404343" "112404343" "subst" "0.000594672" "02330" "RBM20_000247" "g.112404343C>A" "" "" "" "RBM20(NM_001134363.1):c.131C>A (p.P44Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644585C>A" "" "benign" "" "0000612261" "0" "30" "10" "112404350" "112404350" "subst" "0" "02327" "RBM20_000182" "g.112404350G>C" "" "" "" "RBM20(NM_001134363.1):c.138G>C (p.P46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644592G>C" "" "likely benign" "" "0000612262" "0" "30" "10" "112404359" "112404359" "subst" "0" "02327" "RBM20_000248" "g.112404359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644601G>A" "" "likely benign" "" "0000612263" "0" "50" "10" "112404372" "112404372" "subst" "0" "02327" "RBM20_000249" "g.112404372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644614C>T" "" "VUS" "" "0000612264" "0" "10" "10" "112404373" "112404373" "subst" "0" "02327" "RBM20_000250" "g.112404373C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110644615C>G" "" "benign" "" "0000612265" "0" "50" "10" "112540626" "112540626" "subst" "0" "02327" "RBM20_000251" "g.112540626G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780868G>T" "" "VUS" "" "0000612266" "0" "50" "10" "112540711" "112540711" "subst" "0" "01943" "RBM20_000252" "g.112540711C>T" "" "" "" "RBM20(NM_001134363.1):c.344C>T (p.A115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780953C>T" "" "VUS" "" "0000612267" "0" "50" "10" "112540719" "112540719" "subst" "1.32127E-5" "02330" "RBM20_000253" "g.112540719A>G" "" "" "" "RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110780961A>G" "" "VUS" "" "0000612268" "0" "30" "10" "112540809" "112540809" "subst" "3.95262E-5" "02327" "RBM20_000255" "g.112540809G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781051G>A" "" "likely benign" "" "0000612269" "0" "30" "10" "112540917" "112540917" "subst" "0" "02327" "RBM20_000256" "g.112540917A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781159A>G" "" "likely benign" "" "0000612270" "0" "50" "10" "112541032" "112541032" "subst" "0" "02330" "RBM20_000258" "g.112541032C>T" "" "" "" "RBM20(NM_001134363.1):c.665C>T (p.A222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781274C>T" "" "VUS" "" "0000612271" "0" "10" "10" "112541062" "112541062" "subst" "0.00569781" "02327" "RBM20_000054" "g.112541062G>A" "" "" "" "RBM20(NM_001134363.1):c.695G>A (p.G232D, p.(Gly232Asp)), RBM20(NM_001134363.3):c.695G>A (p.G232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781304G>A" "" "benign" "" "0000612272" "0" "30" "10" "112541140" "112541140" "subst" "2.01922E-5" "02327" "RBM20_000138" "g.112541140C>T" "" "" "" "RBM20(NM_001134363.1):c.773C>T (p.S258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781382C>T" "" "likely benign" "" "0000612273" "0" "30" "10" "112541141" "112541141" "subst" "0.000127931" "02327" "RBM20_000139" "g.112541141G>A" "" "" "" "RBM20(NM_001134363.1):c.774G>A (p.S258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781383G>A" "" "likely benign" "" "0000612277" "0" "30" "10" "112544530" "112544531" "del" "0" "02327" "RBM20_000165" "g.112544530_112544531del" "" "" "" "RBM20(NM_001134363.1):c.1430-20_1430-19delTT, RBM20(NM_001134363.3):c.1430-20_1430-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110784772_110784773del" "" "likely benign" "" "0000612278" "0" "30" "10" "112557267" "112557267" "subst" "0.000192753" "02327" "RBM20_000059" "g.112557267T>C" "" "" "" "RBM20(NM_001134363.1):c.1529T>C (p.F510S), RBM20(NM_001134363.3):c.1529T>C (p.F510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797509T>C" "" "likely benign" "" "0000612279" "0" "50" "10" "112559579" "112559579" "subst" "0" "02327" "RBM20_000261" "g.112559579A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110799821A>G" "" "VUS" "" "0000612280" "0" "50" "10" "112570208" "112570208" "subst" "6.61376E-6" "02327" "RBM20_000262" "g.112570208G>A" "" "" "" "RBM20(NM_001134363.3):c.1868G>A (p.R623Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810450G>A" "" "VUS" "" "0000612281" "0" "10" "10" "112570243" "112570243" "subst" "0.362924" "02327" "RBM20_000072" "g.112570243T>C" "" "" "" "RBM20(NM_001134363.1):c.1880+23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810485T>C" "" "benign" "" "0000612282" "0" "90" "10" "112572056" "112572056" "subst" "0" "02330" "RBM20_000263" "g.112572056G>A" "" "" "" "RBM20(NM_001134363.1):c.1901G>A (p.R634Q), RBM20(NM_001134363.3):c.1901G>A (p.R634Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812298G>A" "" "pathogenic" "" "0000612283" "0" "90" "10" "112572056" "112572056" "subst" "0" "02325" "RBM20_000263" "g.112572056G>A" "" "" "" "RBM20(NM_001134363.1):c.1901G>A (p.R634Q), RBM20(NM_001134363.3):c.1901G>A (p.R634Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812298G>A" "" "pathogenic" "" "0000612284" "0" "90" "10" "112572056" "112572056" "subst" "0" "02326" "RBM20_000263" "g.112572056G>A" "" "" "" "RBM20(NM_001134363.1):c.1901G>A (p.R634Q), RBM20(NM_001134363.3):c.1901G>A (p.R634Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812298G>A" "" "pathogenic" "" "0000612286" "0" "30" "10" "112572113" "112572113" "subst" "0.000153577" "02327" "RBM20_000079" "g.112572113C>T" "" "" "" "RBM20(NM_001134363.1):c.1958C>T (p.T653I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812355C>T" "" "likely benign" "" "0000612287" "0" "70" "10" "112572217" "112572217" "subst" "0" "02325" "RBM20_000264" "g.112572217C>T" "" "" "" "RBM20(NM_001134363.3):c.2062C>T (p.R688*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812459C>T" "" "likely pathogenic" "" "0000612288" "0" "50" "10" "112572302" "112572302" "subst" "0.000133535" "02327" "RBM20_000089" "g.112572302G>A" "" "" "" "RBM20(NM_001134363.1):c.2147G>A (p.R716Q), RBM20(NM_001134363.3):c.2147G>A (p.R716Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812544G>A" "" "VUS" "" "0000612289" "0" "30" "10" "112579844" "112579849" "del" "0" "02327" "RBM20_000265" "g.112579844_112579849del" "" "" "" "RBM20(NM_001134363.1):c.2565_2570delACAGGA (p.Q856_E857del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110820086_110820091del" "" "likely benign" "" "0000612290" "0" "10" "10" "112581039" "112581039" "subst" "0.00383603" "02327" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821281G>A" "" "benign" "" "0000612291" "0" "30" "10" "112581264" "112581264" "subst" "0.000348231" "02327" "RBM20_000108" "g.112581264A>G" "" "" "" "RBM20(NM_001134363.1):c.2887A>G (p.K963E), RBM20(NM_001134363.3):c.2887A>G (p.K963E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821506A>G" "" "likely benign" "" "0000612292" "0" "30" "10" "112581366" "112581366" "subst" "3.29933E-5" "02327" "RBM20_000229" "g.112581366G>A" "" "" "" "RBM20(NM_001134363.1):c.2989G>A (p.V997M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821608G>A" "" "likely benign" "" "0000612293" "0" "30" "10" "112583251" "112583251" "subst" "0" "02327" "RBM20_000123" "g.112583251C>T" "" "" "" "RBM20(NM_001134363.1):c.3330C>T (p.Y1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110823493C>T" "" "likely benign" "" "0000612294" "0" "30" "10" "112590829" "112590829" "subst" "1.34867E-5" "01943" "RBM20_000266" "g.112590829C>T" "" "" "" "RBM20(NM_001134363.1):c.3462C>T (p.F1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110831071C>T" "" "likely benign" "" "0000622328" "0" "30" "10" "112540766" "112540766" "subst" "0" "02326" "RBM20_000254" "g.112540766C>T" "" "" "" "RBM20(NM_001134363.1):c.399C>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781008C>T" "" "likely benign" "" "0000622329" "0" "50" "10" "112540989" "112540989" "subst" "0" "02330" "RBM20_000257" "g.112540989G>A" "" "" "" "RBM20(NM_001134363.1):c.622G>A (p.G208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781231G>A" "" "VUS" "" "0000622330" "0" "50" "10" "112541032" "112541032" "subst" "0" "02326" "RBM20_000258" "g.112541032C>T" "" "" "" "RBM20(NM_001134363.1):c.665C>T (p.A222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781274C>T" "" "VUS" "" "0000622331" "0" "50" "10" "112541418" "112541418" "subst" "2.68723E-5" "01943" "RBM20_000259" "g.112541418G>C" "" "" "" "RBM20(NM_001134363.1):c.1051G>C (p.D351H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781660G>C" "" "VUS" "" "0000622332" "0" "30" "10" "112541424" "112541424" "subst" "6.04132E-5" "02326" "RBM20_000017" "g.112541424G>A" "" "" "" "RBM20(NM_001134363.1):c.1057G>A (p.E353K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110781666G>A" "" "likely benign" "" "0000622333" "0" "50" "10" "112557291" "112557291" "subst" "0.000165283" "02330" "RBM20_000260" "g.112557291G>A" "" "" "" "RBM20(NM_001134363.1):c.1553G>A (p.R518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110797533G>A" "" "VUS" "" "0000622334" "0" "50" "10" "112572130" "112572130" "subst" "1.33964E-5" "02330" "RBM20_000083" "g.112572130C>T" "" "" "" "RBM20(NM_001134363.1):c.1975C>T (p.H659Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812372C>T" "" "VUS" "" "0000622335" "0" "50" "10" "112572172" "112572172" "subst" "4.66692E-5" "01943" "RBM20_000087" "g.112572172C>T" "" "" "" "RBM20(NM_001134363.1):c.2017C>T (p.R673W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812414C>T" "" "VUS" "" "0000647846" "1" "70" "10" "112572062" "112572062" "subst" "0" "03575" "RBM20_000267" "g.112572062G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267607004}" "Germline" "" "rs267607004" "0" "" "" "g.110812304G>A" "" "likely pathogenic" "" "0000647847" "1" "50" "10" "112572173" "112572173" "subst" "0.000233414" "03575" "RBM20_000268" "g.112572173G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138926584}" "Germline" "" "rs138926584" "0" "" "" "g.110812415G>A" "" "VUS" "" "0000647848" "1" "30" "10" "112596122" "112596122" "subst" "0" "03575" "RBM20_000269" "g.112596122T>C" "45/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous, no homozygous; {DB:CLININrs77555440}" "Germline" "" "rs77555440" "0" "" "" "g.110836364T>C" "" "likely benign" "" "0000656415" "0" "70" "10" "112570221" "112570221" "subst" "0" "02330" "RBM20_000270" "g.112570221G>A" "" "" "" "RBM20(NM_001134363.1):c.1880+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110810463G>A" "" "likely pathogenic" "" "0000656416" "0" "90" "10" "112572062" "112572062" "subst" "0" "02330" "RBM20_000267" "g.112572062G>A" "" "" "" "RBM20(NM_001134363.1):c.1907G>A (p.R636H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812304G>A" "" "pathogenic" "" "0000656417" "0" "30" "10" "112572124" "112572124" "subst" "6.67619E-6" "02326" "RBM20_000080" "g.112572124T>A" "" "" "" "RBM20(NM_001134363.1):c.1969T>A (p.S657T), RBM20(NM_001134363.3):c.1969T>A (p.S657T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812366T>A" "" "likely benign" "" "0000656418" "0" "30" "10" "112572125" "112572125" "subst" "6.67913E-6" "02326" "RBM20_000082" "g.112572125C>G" "" "" "" "RBM20(NM_001134363.1):c.1970C>G (p.S657C), RBM20(NM_001134363.3):c.1970C>G (p.S657C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812367C>G" "" "likely benign" "" "0000656419" "0" "50" "10" "112572178" "112572178" "subst" "6.66329E-6" "02325" "RBM20_000271" "g.112572178T>A" "" "" "" "RBM20(NM_001134363.3):c.2023T>A (p.S675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812420T>A" "" "VUS" "" "0000656420" "0" "50" "10" "112572332" "112572332" "subst" "0" "02326" "RBM20_000272" "g.112572332G>A" "" "" "" "RBM20(NM_001134363.1):c.2177G>A (p.R726Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812574G>A" "" "VUS" "" "0000656421" "0" "50" "10" "112572605" "112572605" "subst" "0" "01943" "RBM20_000101" "g.112572605G>T" "" "" "" "RBM20(NM_001134363.1):c.2450G>T (p.G817V), RBM20(NM_001134363.3):c.2450G>T (p.G817V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110812847G>T" "" "VUS" "" "0000656422" "0" "50" "10" "112581131" "112581133" "del" "0" "02330" "RBM20_000273" "g.112581131_112581133del" "" "" "" "RBM20(NM_001134363.1):c.2754_2756delAGA (p.E918del), RBM20(NM_001134363.3):c.2754_2756delAGA (p.E918del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821373_110821375del" "" "VUS" "" "0000656423" "0" "70" "10" "112581613" "112581613" "del" "0" "02325" "RBM20_000274" "g.112581613del" "" "" "" "RBM20(NM_001134363.3):c.3236delG (p.G1079Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110821855del" "" "likely pathogenic" "" "0000678768" "0" "50" "10" "112404353" "112404373" "del" "0" "02326" "RBM20_000275" "g.112404353_112404373del" "" "" "" "RBM20(NM_001134363.1):c.141_161delGCCCCAGCCACCGCCCCCGCC (p.P48_P54del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678769" "0" "50" "10" "112540666" "112540666" "subst" "1.32219E-5" "02327" "RBM20_000276" "g.112540666T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678770" "0" "50" "10" "112541213" "112541220" "del" "0" "02327" "RBM20_000192" "g.112541213_112541220del" "" "" "" "RBM20(NM_001134363.1):c.846_853delTTACGGAC (p.Y283Qfs*14), RBM20(NM_001134363.3):c.846_853delTTACGGAC (p.Y283Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678771" "0" "10" "10" "112541460" "112541460" "subst" "0.000812532" "02330" "RBM20_000147" "g.112541460G>A" "" "" "" "RBM20(NM_001134363.1):c.1093G>A (p.G365R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678772" "0" "30" "10" "112541528" "112541528" "subst" "0.000140557" "02327" "RBM20_000152" "g.112541528G>A" "" "" "" "RBM20(NM_001134363.1):c.1161G>A (p.A387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678773" "0" "30" "10" "112543134" "112543134" "subst" "0.000930001" "01804" "RBM20_000159" "g.112543134T>C" "" "" "" "RBM20(NM_001134363.1):c.1286T>C (p.L429P, p.(Leu429Pro)), RBM20(NM_001134363.3):c.1286T>C (p.L429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678774" "0" "30" "10" "112544564" "112544564" "subst" "0" "02327" "RBM20_000277" "g.112544564C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678775" "0" "50" "10" "112572130" "112572130" "subst" "1.33964E-5" "02327" "RBM20_000083" "g.112572130C>T" "" "" "" "RBM20(NM_001134363.1):c.1975C>T (p.H659Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678776" "0" "30" "10" "112581039" "112581039" "subst" "0.00383603" "01804" "RBM20_000106" "g.112581039G>A" "" "" "" "RBM20(NM_001134363.1):c.2662G>A (p.D888N, p.(Asp888Asn)), RBM20(NM_001134363.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678777" "0" "30" "10" "112581293" "112581293" "subst" "0" "02326" "RBM20_000228" "g.112581293G>A" "" "" "" "RBM20(NM_001134363.1):c.2916G>A (p.G972=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678778" "0" "50" "10" "112595630" "112595630" "subst" "2.74627E-5" "02326" "RBM20_000175" "g.112595630A>G" "" "" "" "RBM20(NM_001134363.1):c.3578A>G (p.Y1193C), RBM20(NM_001134363.3):c.3578A>G (p.Y1193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678779" "0" "50" "10" "112595668" "112595668" "subst" "4.84161E-5" "02325" "RBM20_000278" "g.112595668G>A" "" "" "" "RBM20(NM_001134363.3):c.3616G>A (p.E1206K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690640" "0" "10" "10" "112540897" "112540897" "subst" "0.000318323" "02330" "RBM20_000050" "g.112540897C>T" "" "" "" "RBM20(NM_001134363.1):c.530C>T (p.T177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690641" "0" "30" "10" "112541225" "112541225" "subst" "0" "02326" "RBM20_000279" "g.112541225C>T" "" "" "" "RBM20(NM_001134363.1):c.858C>T (p.N286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690642" "0" "30" "10" "112541650" "112541650" "subst" "0.000120987" "01943" "RBM20_000056" "g.112541650G>T" "" "" "" "RBM20(NM_001134363.1):c.1275+8G>T, RBM20(NM_001134363.3):c.1275+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690643" "0" "50" "10" "112570208" "112570208" "subst" "6.61376E-6" "02325" "RBM20_000262" "g.112570208G>A" "" "" "" "RBM20(NM_001134363.3):c.1868G>A (p.R623Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690644" "0" "30" "10" "112572351" "112572351" "subst" "0" "01943" "RBM20_000093" "g.112572351C>T" "" "" "" "RBM20(NM_001134363.1):c.2196C>T (p.P732=), RBM20(NM_001134363.3):c.2196C>T (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690645" "0" "50" "10" "112581409" "112581409" "subst" "0" "02330" "RBM20_000280" "g.112581409C>G" "" "" "" "RBM20(NM_001134363.1):c.3032C>G (p.A1011G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701658" "0" "50" "10" "112544579" "112544579" "subst" "1.34494E-5" "00006" "RBM20_000281" "g.112544579G>A" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110784821G>A" "" "VUS" "" "0000701659" "0" "30" "10" "112557371" "112557371" "subst" "7.23085E-5" "00006" "RBM20_000014" "g.112557371G>A" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110797613G>A" "" "likely benign" "" "0000701660" "0" "50" "10" "112572062" "112572062" "subst" "0" "00006" "RBM20_000267" "g.112572062G>A" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110812304G>A" "" "VUS" "" "0000701661" "0" "90" "10" "112572068" "112572068" "subst" "0" "00006" "RBM20_000208" "g.112572068C>T" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110812310C>T" "" "pathogenic" "" "0000701662" "0" "50" "10" "112572172" "112572172" "subst" "4.66692E-5" "00006" "RBM20_000087" "g.112572172C>T" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110812414C>T" "" "VUS" "" "0000701663" "0" "50" "10" "112572263" "112572263" "subst" "0" "00006" "RBM20_000282" "g.112572263G>A" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110812505G>A" "" "VUS" "" "0000701664" "0" "50" "10" "112581105" "112581105" "subst" "0" "00006" "RBM20_000283" "g.112581105A>C" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110821347A>C" "" "VUS" "" "0000701665" "0" "50" "10" "112581114" "112581114" "subst" "0" "00006" "RBM20_000107" "g.112581114G>A" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110821356G>A" "" "VUS" "" "0000701666" "0" "50" "10" "112581399" "112581399" "subst" "1.32214E-5" "00006" "RBM20_000284" "g.112581399C>T" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110821641C>T" "" "VUS" "" "0000704344" "0" "50" "10" "112540931" "112540931" "subst" "0" "00006" "RBM20_000285" "g.112540931C>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.110781173C>A" "" "VUS" "ACMG" "0000714887" "0" "50" "10" "112540582" "112540582" "subst" "0" "01164" "RBM20_000286" "g.112540582A>T" "" "" "" "" "ACMG: PM2: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000722667" "0" "30" "10" "112540896" "112540896" "subst" "8.61304E-5" "02330" "RBM20_000287" "g.112540896A>T" "" "" "" "RBM20(NM_001134363.1):c.529A>T (p.T177S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722668" "0" "50" "10" "112541055" "112541055" "subst" "0" "02325" "RBM20_000288" "g.112541055G>A" "" "" "" "RBM20(NM_001134363.3):c.688G>A (p.E230K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722669" "0" "70" "10" "112541213" "112541220" "del" "0" "02330" "RBM20_000192" "g.112541213_112541220del" "" "" "" "RBM20(NM_001134363.1):c.846_853delTTACGGAC (p.Y283Qfs*14), RBM20(NM_001134363.3):c.846_853delTTACGGAC (p.Y283Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722670" "0" "50" "10" "112541506" "112541506" "subst" "1.33679E-5" "02330" "RBM20_000176" "g.112541506G>A" "" "" "" "RBM20(NM_001134363.1):c.1139G>A (p.R380Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722671" "0" "30" "10" "112557397" "112557397" "subst" "0.000138091" "01943" "RBM20_000061" "g.112557397G>A" "" "" "" "RBM20(NM_001134363.1):c.1659G>A (p.S553=), RBM20(NM_001134363.3):c.1659G>A (p.S553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722672" "0" "30" "10" "112570224" "112570226" "dup" "0" "01943" "RBM20_000069" "g.112570224_112570226dup" "" "" "" "RBM20(NM_001134363.1):c.1880+4_1880+6dupAGG, RBM20(NM_001134363.3):c.1880+4_1880+6dup, RBM20(NM_001134363.3):c.1880+4_1880+6dupAGG, RBM20(NM_00113...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722673" "0" "10" "10" "112570224" "112570226" "dup" "0" "02326" "RBM20_000069" "g.112570224_112570226dup" "" "" "" "RBM20(NM_001134363.1):c.1880+4_1880+6dupAGG, RBM20(NM_001134363.3):c.1880+4_1880+6dup, RBM20(NM_001134363.3):c.1880+4_1880+6dupAGG, RBM20(NM_00113...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722674" "0" "50" "10" "112572036" "112572036" "subst" "7.00673E-6" "02325" "RBM20_000289" "g.112572036A>G" "" "" "" "RBM20(NM_001134363.3):c.1881A>G (p.R627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722675" "0" "30" "10" "112572077" "112572077" "subst" "0.00034875" "01943" "RBM20_000290" "g.112572077G>A" "" "" "" "RBM20(NM_001134363.1):c.1922G>A (p.R641Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722676" "0" "30" "10" "112572173" "112572173" "subst" "0.000233414" "02330" "RBM20_000268" "g.112572173G>A" "" "" "" "RBM20(NM_001134363.1):c.2018G>A (p.R673Q), RBM20(NM_001134363.3):c.2018G>A (p.R673Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722677" "0" "30" "10" "112572173" "112572173" "subst" "0.000233414" "02325" "RBM20_000268" "g.112572173G>A" "" "" "" "RBM20(NM_001134363.1):c.2018G>A (p.R673Q), RBM20(NM_001134363.3):c.2018G>A (p.R673Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722678" "0" "50" "10" "112572403" "112572403" "subst" "0" "02330" "RBM20_000291" "g.112572403T>C" "" "" "" "RBM20(NM_001134363.1):c.2248T>C (p.S750P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722679" "0" "50" "10" "112579912" "112579912" "subst" "2.64435E-5" "02330" "RBM20_000103" "g.112579912C>T" "" "" "" "RBM20(NM_001134363.1):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722680" "0" "50" "10" "112581090" "112581090" "subst" "0" "02325" "RBM20_000292" "g.112581090A>G" "" "" "" "RBM20(NM_001134363.3):c.2713A>G (p.M905V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722681" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "02326" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722682" "0" "30" "10" "112581293" "112581293" "subst" "0" "01943" "RBM20_000228" "g.112581293G>A" "" "" "" "RBM20(NM_001134363.1):c.2916G>A (p.G972=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722683" "0" "50" "10" "112590845" "112590845" "subst" "1.34642E-5" "02325" "RBM20_000293" "g.112590845G>A" "" "" "" "RBM20(NM_001134363.1):c.3478G>A (p.G1160S), RBM20(NM_001134363.3):c.3478G>A (p.G1160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722684" "0" "50" "10" "112590917" "112590917" "subst" "0" "02330" "RBM20_000130" "g.112590917G>A" "" "" "" "RBM20(NM_001134363.1):c.3550G>A (p.A1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722685" "0" "30" "10" "112595620" "112595620" "subst" "2.05883E-5" "02330" "RBM20_000132" "g.112595620C>G" "" "" "" "RBM20(NM_001134363.1):c.3574-6C>G, RBM20(NM_001134363.3):c.3574-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000790042" "1" "90" "10" "112572062" "112572062" "subst" "0" "00006" "RBM20_000267" "g.112572062G>A" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PS4 PM1 PM2 PM5 PP3 PP5; no genotypes reported" "Germline" "" "" "0" "" "" "g.110812304G>A" "" "pathogenic" "" "0000804287" "0" "30" "10" "112404358" "112404359" "del" "0" "02325" "RBM20_000027" "g.112404358_112404359del" "" "" "" "RBM20(NM_001134363.1):c.146_147delAG (p.Q49Pfs*29), RBM20(NM_001134363.3):c.146_147delAG (p.Q49Pfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804288" "0" "50" "10" "112540835" "112540837" "del" "0" "02326" "RBM20_000047" "g.112540835_112540837del" "" "" "" "RBM20(NM_001134363.1):c.468_470delTGC (p.A158del), RBM20(NM_001134363.3):c.468_470delTGC (p.A158del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804289" "0" "30" "10" "112541300" "112541300" "subst" "1.34104E-5" "02326" "RBM20_000145" "g.112541300G>C" "" "" "" "RBM20(NM_001134363.1):c.933G>C (p.L311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804290" "0" "50" "10" "112570156" "112570156" "subst" "3.96568E-5" "02325" "RBM20_000294" "g.112570156G>A" "" "" "" "RBM20(NM_001134363.3):c.1816G>A (p.V606M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804291" "0" "90" "10" "112572055" "112572055" "subst" "0" "02326" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804292" "0" "90" "10" "112572056" "112572056" "subst" "0" "02325" "RBM20_000295" "g.112572056G>C" "" "" "" "RBM20(NM_001134363.3):c.1901G>C (p.R634P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804293" "0" "50" "10" "112572271" "112572271" "subst" "7.36722E-5" "02330" "RBM20_000211" "g.112572271C>A" "" "" "" "RBM20(NM_001134363.1):c.2116C>A (p.P706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804294" "0" "50" "10" "112572437" "112572437" "subst" "2.64414E-5" "02330" "RBM20_000296" "g.112572437G>A" "" "" "" "RBM20(NM_001134363.1):c.2282G>A (p.R761Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804295" "0" "30" "10" "112572607" "112572607" "subst" "0.000296028" "02326" "RBM20_000220" "g.112572607G>T" "" "" "" "RBM20(NM_001134363.1):c.2452G>T (p.A818S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804296" "0" "50" "10" "112581131" "112581133" "del" "0" "02325" "RBM20_000273" "g.112581131_112581133del" "" "" "" "RBM20(NM_001134363.1):c.2754_2756delAGA (p.E918del), RBM20(NM_001134363.3):c.2754_2756delAGA (p.E918del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804297" "0" "50" "10" "112581639" "112581639" "subst" "1.98329E-5" "02330" "RBM20_000118" "g.112581639C>G" "" "" "" "RBM20(NM_001134363.1):c.3262C>G (p.P1088A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804298" "0" "50" "10" "112583265" "112583265" "subst" "1.34716E-5" "02326" "RBM20_000124" "g.112583265C>T" "" "" "" "RBM20(NM_001134363.1):c.3344C>T (p.S1115F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804299" "0" "70" "10" "112583298" "112583299" "del" "0" "02330" "RBM20_000297" "g.112583298_112583299del" "" "" "" "RBM20(NM_001134363.1):c.3377_3378delTG (p.V1126Gfs*19), RBM20(NM_001134363.3):c.3377_3378delTG (p.V1126Gfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804300" "0" "50" "10" "112590845" "112590845" "subst" "1.34642E-5" "02326" "RBM20_000293" "g.112590845G>A" "" "" "" "RBM20(NM_001134363.1):c.3478G>A (p.G1160S), RBM20(NM_001134363.3):c.3478G>A (p.G1160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804301" "0" "30" "10" "112595700" "112595700" "subst" "0.000239318" "02326" "RBM20_000298" "g.112595700C>T" "" "" "" "RBM20(NM_001134363.1):c.3648C>T (p.S1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852380" "0" "30" "10" "112404326" "112404326" "subst" "0.00028183" "02327" "RBM20_000022" "g.112404326G>T" "" "" "" "RBM20(NM_001134363.1):c.114G>T (p.P38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852381" "0" "30" "10" "112404340" "112404342" "dup" "0" "02327" "RBM20_000180" "g.112404340_112404342dup" "" "" "" "RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852382" "0" "30" "10" "112404343" "112404343" "subst" "0.000594672" "02327" "RBM20_000247" "g.112404343C>A" "" "" "" "RBM20(NM_001134363.1):c.131C>A (p.P44Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852383" "0" "50" "10" "112404353" "112404373" "del" "0" "02330" "RBM20_000275" "g.112404353_112404373del" "" "" "" "RBM20(NM_001134363.1):c.141_161delGCCCCAGCCACCGCCCCCGCC (p.P48_P54del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852384" "0" "30" "10" "112540604" "112540604" "subst" "1.34713E-5" "02327" "RBM20_000038" "g.112540604G>A" "" "" "" "RBM20(NM_001134363.1):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852385" "0" "50" "10" "112540665" "112540665" "subst" "0" "02325" "RBM20_000299" "g.112540665C>T" "" "" "" "RBM20(NM_001134363.3):c.298C>T (p.L100F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852386" "0" "50" "10" "112540672" "112540672" "subst" "4.62804E-5" "01943" "RBM20_000300" "g.112540672G>A" "" "" "" "RBM20(NM_001134363.1):c.305G>A (p.R102Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852387" "0" "70" "10" "112540715" "112540715" "del" "0" "02325" "RBM20_000301" "g.112540715del" "" "" "" "RBM20(NM_001134363.3):c.348delC (p.A117Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852388" "0" "10" "10" "112540787" "112540787" "subst" "6.58259E-5" "02330" "RBM20_000302" "g.112540787G>A" "" "" "" "RBM20(NM_001134363.1):c.420G>A (p.P140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852389" "0" "30" "10" "112540889" "112540889" "subst" "1.32336E-5" "02327" "RBM20_000303" "g.112540889C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852390" "0" "30" "10" "112540903" "112540903" "subst" "0" "02327" "RBM20_000304" "g.112540903G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852391" "0" "50" "10" "112540911" "112540911" "subst" "0.000106396" "02330" "RBM20_000051" "g.112540911C>A" "" "" "" "RBM20(NM_001134363.1):c.544C>A (p.P182T), RBM20(NM_001134363.3):c.544C>A (p.P182T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852392" "0" "50" "10" "112541023" "112541023" "subst" "0" "01943" "RBM20_000305" "g.112541023C>G" "" "" "" "RBM20(NM_001134363.1):c.656C>G (p.T219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852393" "0" "50" "10" "112541491" "112541491" "subst" "0" "02327" "RBM20_000306" "g.112541491T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852394" "0" "50" "10" "112541568" "112541568" "subst" "6.71141E-6" "02325" "RBM20_000155" "g.112541568G>A" "" "" "" "RBM20(NM_001134363.1):c.1201G>A (p.D401N), RBM20(NM_001134363.3):c.1201G>A (p.D401N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852395" "0" "30" "10" "112544145" "112544145" "subst" "6.73138E-6" "02327" "RBM20_000309" "g.112544145G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852396" "0" "50" "10" "112544614" "112544614" "subst" "1.346E-5" "02327" "RBM20_000167" "g.112544614C>A" "" "" "" "RBM20(NM_001134363.1):c.1494C>A (p.S498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852397" "0" "30" "10" "112557267" "112557267" "subst" "0.000192753" "02330" "RBM20_000059" "g.112557267T>C" "" "" "" "RBM20(NM_001134363.1):c.1529T>C (p.F510S), RBM20(NM_001134363.3):c.1529T>C (p.F510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852398" "0" "30" "10" "112572108" "112572108" "subst" "0" "02330" "RBM20_000311" "g.112572108C>T" "" "" "" "RBM20(NM_001134363.1):c.1953C>T (p.S651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852399" "0" "30" "10" "112572173" "112572173" "subst" "0.000233414" "02327" "RBM20_000268" "g.112572173G>A" "" "" "" "RBM20(NM_001134363.1):c.2018G>A (p.R673Q), RBM20(NM_001134363.3):c.2018G>A (p.R673Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852400" "0" "30" "10" "112572309" "112572309" "subst" "0" "02327" "RBM20_000312" "g.112572309G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852401" "0" "30" "10" "112572356" "112572356" "subst" "7.29327E-5" "02326" "RBM20_000213" "g.112572356G>A" "" "" "" "RBM20(NM_001134363.1):c.2201G>A (p.R734Q), RBM20(NM_001134363.3):c.2201G>A (p.R734Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852402" "0" "30" "10" "112572427" "112572427" "subst" "1.98347E-5" "02327" "RBM20_000095" "g.112572427G>A" "" "" "" "RBM20(NM_001134363.1):c.2272G>A (p.G758S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852403" "0" "30" "10" "112572603" "112572603" "subst" "1.53863E-5" "02327" "RBM20_000313" "g.112572603G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852404" "0" "50" "10" "112581069" "112581069" "subst" "0" "02325" "RBM20_000315" "g.112581069G>A" "" "" "" "RBM20(NM_001134363.3):c.2692G>A (p.E898K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852405" "0" "30" "10" "112581436" "112581436" "subst" "0" "02327" "RBM20_000316" "g.112581436A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852406" "0" "50" "10" "112581546" "112581546" "subst" "9.91421E-5" "02330" "RBM20_000317" "g.112581546C>T" "" "" "" "RBM20(NM_001134363.1):c.3169C>T (p.R1057W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852407" "0" "30" "10" "112581566" "112581566" "subst" "6.61297E-6" "02327" "RBM20_000318" "g.112581566G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852408" "0" "30" "10" "112590883" "112590883" "subst" "0" "02326" "RBM20_000320" "g.112590883C>T" "" "" "" "RBM20(NM_001134363.1):c.3516C>T (p.S1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852409" "0" "10" "10" "112590956" "112590956" "subst" "0.000155639" "02330" "RBM20_000131" "g.112590956C>T" "" "" "" "RBM20(NM_001134363.1):c.3573+16C>T, RBM20(NM_001134363.3):c.3573+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852410" "0" "50" "10" "112595636" "112595636" "subst" "0.000288374" "02325" "RBM20_000134" "g.112595636C>A" "" "" "" "RBM20(NM_001134363.1):c.3584C>A (p.S1195Y), RBM20(NM_001134363.3):c.3584C>A (p.S1195Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852411" "0" "50" "10" "112595713" "112595713" "subst" "2.23794E-5" "02330" "RBM20_000321" "g.112595713C>T" "" "" "" "RBM20(NM_001134363.1):c.3661C>T (p.R1221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861821" "0" "50" "10" "112541526" "112541526" "subst" "6.6895E-6" "02330" "RBM20_000307" "g.112541526G>A" "" "" "" "RBM20(NM_001134363.1):c.1159G>A (p.A387T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861822" "0" "30" "10" "112544117" "112544117" "subst" "3.36714E-5" "01943" "RBM20_000308" "g.112544117A>T" "" "" "" "RBM20(NM_001134363.1):c.1356A>T (p.I452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861823" "0" "50" "10" "112559660" "112559660" "subst" "6.55402E-6" "02330" "RBM20_000310" "g.112559660A>G" "" "" "" "RBM20(NM_001134363.1):c.1784A>G (p.K595R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861824" "0" "50" "10" "112572113" "112572113" "subst" "0.000153577" "01943" "RBM20_000079" "g.112572113C>T" "" "" "" "RBM20(NM_001134363.1):c.1958C>T (p.T653I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861825" "0" "50" "10" "112572702" "112572702" "subst" "5.26357E-5" "01943" "RBM20_000314" "g.112572702T>A" "" "" "" "RBM20(NM_001134363.1):c.2547T>A (p.N849K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861826" "0" "50" "10" "112579844" "112579849" "del" "0" "01943" "RBM20_000265" "g.112579844_112579849del" "" "" "" "RBM20(NM_001134363.1):c.2565_2570delACAGGA (p.Q856_E857del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861827" "0" "50" "10" "112581108" "112581108" "subst" "0" "01943" "RBM20_000224" "g.112581108G>A" "" "" "" "RBM20(NM_001134363.1):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861828" "0" "30" "10" "112590880" "112590880" "subst" "4.71063E-5" "01943" "RBM20_000319" "g.112590880G>A" "" "" "" "RBM20(NM_001134363.1):c.3513G>A (p.T1171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861829" "0" "10" "10" "112595700" "112595700" "subst" "0.000239318" "02330" "RBM20_000298" "g.112595700C>T" "" "" "" "RBM20(NM_001134363.1):c.3648C>T (p.S1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861830" "0" "30" "10" "112595700" "112595700" "subst" "0.000239318" "01943" "RBM20_000298" "g.112595700C>T" "" "" "" "RBM20(NM_001134363.1):c.3648C>T (p.S1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878861" "0" "70" "10" "112595688" "112595688" "del" "0" "04384" "RBM20_000322" "g.112595688del" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.110835930del" "" "VUS" "" "0000878866" "0" "70" "10" "112579827" "112579827" "subst" "0" "04384" "RBM20_000323" "g.112579827A>G" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000888986" "0" "30" "10" "112404210" "112404210" "subst" "0" "02330" "RBM20_000324" "g.112404210C>T" "" "" "" "RBM20(NM_001134363.1):c.-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888987" "0" "70" "10" "112404357" "112404357" "subst" "0" "02330" "RBM20_000025" "g.112404357C>T" "" "" "" "RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888989" "0" "30" "10" "112404362" "112404362" "subst" "0.000260641" "02326" "RBM20_000029" "g.112404362A>T" "" "" "" "RBM20(NM_001134363.1):c.150A>T (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888990" "0" "30" "10" "112404362" "112404362" "subst" "0.000260641" "02327" "RBM20_000029" "g.112404362A>T" "" "" "" "RBM20(NM_001134363.1):c.150A>T (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888991" "0" "10" "10" "112540604" "112540604" "subst" "1.34713E-5" "02330" "RBM20_000038" "g.112540604G>A" "" "" "" "RBM20(NM_001134363.1):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888992" "0" "30" "10" "112540604" "112540604" "subst" "1.34713E-5" "02326" "RBM20_000038" "g.112540604G>A" "" "" "" "RBM20(NM_001134363.1):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888993" "0" "50" "10" "112540614" "112540614" "subst" "6.67619E-6" "02325" "RBM20_000186" "g.112540614C>A" "" "" "" "RBM20(NM_001134363.1):c.247C>A (p.L83I), RBM20(NM_001134363.3):c.247C>A (p.L83I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888994" "0" "50" "10" "112540668" "112540668" "subst" "0" "02330" "RBM20_000325" "g.112540668C>T" "" "" "" "RBM20(NM_001134363.1):c.301C>T (p.H101Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888995" "0" "50" "10" "112540726" "112540726" "del" "0" "02327" "RBM20_000326" "g.112540726del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888996" "0" "50" "10" "112540911" "112540911" "subst" "0.000106396" "02325" "RBM20_000051" "g.112540911C>A" "" "" "" "RBM20(NM_001134363.1):c.544C>A (p.P182T), RBM20(NM_001134363.3):c.544C>A (p.P182T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888997" "0" "10" "10" "112541216" "112541216" "subst" "0.000128105" "02330" "RBM20_000193" "g.112541216C>T" "" "" "" "RBM20(NM_001134363.1):c.849C>T (p.Y283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888998" "0" "90" "10" "112541229" "112541229" "subst" "0" "02326" "RBM20_000327" "g.112541229C>T" "" "" "" "RBM20(NM_001134363.1):c.862C>T (p.Q288*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888999" "0" "30" "10" "112541300" "112541300" "subst" "1.34104E-5" "02327" "RBM20_000145" "g.112541300G>C" "" "" "" "RBM20(NM_001134363.1):c.933G>C (p.L311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889000" "0" "50" "10" "112541430" "112541430" "subst" "0" "02330" "RBM20_000328" "g.112541430C>T" "" "" "" "RBM20(NM_001134363.1):c.1063C>T (p.P355S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889001" "0" "50" "10" "112541430" "112541430" "subst" "0" "02327" "RBM20_000328" "g.112541430C>T" "" "" "" "RBM20(NM_001134363.1):c.1063C>T (p.P355S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889002" "0" "50" "10" "112541517" "112541517" "subst" "6.68306E-6" "02327" "RBM20_000329" "g.112541517G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889003" "0" "50" "10" "112543157" "112543157" "subst" "6.55497E-6" "02330" "RBM20_000330" "g.112543157G>A" "" "" "" "RBM20(NM_001134363.1):c.1309G>A (p.A437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889004" "0" "30" "10" "112544530" "112544531" "del" "0" "02326" "RBM20_000165" "g.112544530_112544531del" "" "" "" "RBM20(NM_001134363.1):c.1430-20_1430-19delTT, RBM20(NM_001134363.3):c.1430-20_1430-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889005" "0" "30" "10" "112557371" "112557371" "subst" "7.23085E-5" "02327" "RBM20_000014" "g.112557371G>A" "" "" "" "RBM20(NM_001134363.1):c.1633G>A (p.V545I), RBM20(NM_001134363.3):c.1633G>A (p.V545I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889006" "0" "30" "10" "112559624" "112559624" "subst" "3.92958E-5" "02327" "RBM20_000063" "g.112559624G>A" "" "" "" "RBM20(NM_001134363.1):c.1748G>A (p.G583D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889007" "0" "50" "10" "112559642" "112559642" "subst" "6.55076E-6" "02330" "RBM20_000205" "g.112559642G>T" "" "" "" "RBM20(NM_001134363.1):c.1766G>T (p.R589L), RBM20(NM_001134363.3):c.1766G>T (p.R589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889008" "0" "50" "10" "112570145" "112570145" "subst" "0" "02327" "RBM20_000331" "g.112570145C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889009" "0" "90" "10" "112572062" "112572062" "subst" "0" "02326" "RBM20_000267" "g.112572062G>A" "" "" "" "RBM20(NM_001134363.1):c.1907G>A (p.R636H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889010" "0" "30" "10" "112572271" "112572271" "subst" "7.36722E-5" "02326" "RBM20_000211" "g.112572271C>A" "" "" "" "RBM20(NM_001134363.1):c.2116C>A (p.P706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889011" "0" "50" "10" "112572348" "112572348" "subst" "0" "02325" "RBM20_000332" "g.112572348G>T" "" "" "" "RBM20(NM_001134363.3):c.2193G>T (p.R731S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889012" "0" "50" "10" "112572436" "112572436" "subst" "1.98329E-5" "02330" "RBM20_000333" "g.112572436C>T" "" "" "" "RBM20(NM_001134363.1):c.2281C>T (p.R761W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889013" "0" "10" "10" "112572458" "112572458" "subst" "0.0011499" "02326" "RBM20_000097" "g.112572458G>T" "" "" "" "RBM20(NM_001134363.1):c.2303G>T (p.W768L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889014" "0" "30" "10" "112572548" "112572548" "subst" "9.93075E-5" "02325" "RBM20_000334" "g.112572548C>T" "" "" "" "RBM20(NM_001134363.1):c.2393C>T (p.P798L), RBM20(NM_001134363.3):c.2393C>T (p.P798L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889015" "0" "30" "10" "112572560" "112572560" "subst" "0" "02327" "RBM20_000335" "g.112572560G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889016" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "01804" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889017" "0" "50" "10" "112581619" "112581619" "subst" "6.61192E-6" "02327" "RBM20_000336" "g.112581619C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889018" "0" "10" "10" "112590809" "112590809" "subst" "0.000656292" "02326" "RBM20_000127" "g.112590809C>T" "" "" "" "RBM20(NM_001134363.1):c.3452-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889019" "0" "50" "10" "112590938" "112590938" "subst" "2.0232E-5" "02325" "RBM20_000242" "g.112590938C>A" "" "" "" "RBM20(NM_001134363.1):c.3571C>A (p.Q1191K), RBM20(NM_001134363.3):c.3571C>A (p.Q1191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913210" "0" "30" "10" "112540647" "112540647" "subst" "0.000363473" "02326" "RBM20_000188" "g.112540647C>T" "" "" "" "RBM20(NM_001134363.1):c.280C>T (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913211" "0" "50" "10" "112540719" "112540719" "subst" "1.32127E-5" "02326" "RBM20_000253" "g.112540719A>G" "" "" "" "RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913212" "0" "10" "10" "112541426" "112541426" "subst" "2.01167E-5" "02330" "RBM20_000337" "g.112541426G>A" "" "" "" "RBM20(NM_001134363.1):c.1059G>A (p.E353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913213" "0" "10" "10" "112544139" "112544139" "subst" "9.42431E-5" "02330" "RBM20_000164" "g.112544139T>C" "" "" "" "RBM20(NM_001134363.1):c.1378T>C (p.L460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913214" "0" "30" "10" "112570153" "112570153" "subst" "0" "02327" "RBM20_000338" "g.112570153G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913215" "0" "10" "10" "112572033" "112572033" "subst" "0.000986655" "02326" "RBM20_000073" "g.112572033C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-3C>T (p.?), RBM20(NM_001134363.3):c.1881-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913216" "0" "50" "10" "112572140" "112572140" "subst" "0" "02330" "RBM20_000339" "g.112572140C>T" "" "" "" "RBM20(NM_001134363.1):c.1985C>T (p.P662L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913217" "0" "50" "10" "112572383" "112572383" "subst" "0" "02327" "RBM20_000340" "g.112572383C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913218" "0" "30" "10" "112572473" "112572473" "subst" "0.00074028" "02326" "RBM20_000215" "g.112572473A>G" "" "" "" "RBM20(NM_001134363.1):c.2318A>G (p.K773R), RBM20(NM_001134363.3):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913219" "0" "50" "10" "112581453" "112581453" "subst" "0" "02327" "RBM20_000341" "g.112581453G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913220" "0" "10" "10" "112581554" "112581554" "subst" "3.30447E-5" "02330" "RBM20_000233" "g.112581554A>G" "" "" "" "RBM20(NM_001134363.1):c.3177A>G (p.P1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913221" "0" "30" "10" "112583209" "112583216" "del" "0" "02325" "RBM20_000342" "g.112583209_112583216del" "" "" "" "RBM20(NM_001134363.3):c.3317-29_3317-22delTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913222" "0" "50" "10" "112595701" "112595701" "subst" "0" "02326" "RBM20_000343" "g.112595701G>A" "" "" "" "RBM20(NM_001134363.1):c.3649G>A (p.G1217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925108" "0" "50" "10" "112540591" "112540591" "subst" "2.09996E-5" "02326" "RBM20_000037" "g.112540591C>T" "" "" "" "RBM20(NM_001134363.1):c.224C>T (p.S75L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925109" "0" "50" "10" "112540738" "112540738" "subst" "0" "02330" "RBM20_000344" "g.112540738T>C" "" "" "" "RBM20(NM_001134363.1):c.371T>C (p.L124P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925110" "0" "50" "10" "112541143" "112541143" "subst" "1.34642E-5" "02330" "RBM20_000345" "g.112541143G>T" "" "" "" "RBM20(NM_001134363.1):c.776G>T (p.G259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925111" "0" "50" "10" "112544122" "112544122" "subst" "0" "02326" "RBM20_000346" "g.112544122G>T" "" "" "" "RBM20(NM_001134363.1):c.1361G>T (p.G454V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925112" "0" "10" "10" "112544665" "112544665" "subst" "0" "02330" "RBM20_000169" "g.112544665T>G" "" "" "" "RBM20(NM_001134363.1):c.1527+18T>G, RBM20(NM_001134363.3):c.1527+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925113" "0" "10" "10" "112557340" "112557340" "subst" "0.00018431" "02330" "RBM20_000060" "g.112557340C>T" "" "" "" "RBM20(NM_001134363.1):c.1602C>T (p.D534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925114" "0" "50" "10" "112570207" "112570207" "subst" "1.98418E-5" "02325" "RBM20_000347" "g.112570207C>T" "" "" "" "RBM20(NM_001134363.3):c.1867C>T (p.R623W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925115" "0" "90" "10" "112572061" "112572061" "subst" "0" "02325" "RBM20_000348" "g.112572061C>T" "" "" "" "RBM20(NM_001134363.3):c.1906C>T (p.R636C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925116" "0" "50" "10" "112581108" "112581108" "subst" "0" "02326" "RBM20_000224" "g.112581108G>A" "" "" "" "RBM20(NM_001134363.1):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925117" "0" "30" "10" "112581700" "112581700" "subst" "1.32345E-5" "02326" "RBM20_000349" "g.112581700A>G" "" "" "" "RBM20(NM_001134363.1):c.3316+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925118" "0" "50" "10" "112590912" "112590912" "subst" "0.000262495" "02330" "RBM20_000350" "g.112590912G>A" "" "" "" "RBM20(NM_001134363.1):c.3545G>A (p.R1182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929639" "0" "50" "10" "112404295" "112404295" "subst" "0" "02326" "RBM20_000351" "g.112404295G>T" "" "" "" "RBM20(NM_001134363.1):c.83G>T (p.G28V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929640" "0" "50" "10" "112404316" "112404316" "subst" "0" "02327" "RBM20_000352" "g.112404316C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929641" "0" "50" "10" "112559624" "112559624" "subst" "3.92958E-5" "02330" "RBM20_000063" "g.112559624G>A" "" "" "" "RBM20(NM_001134363.1):c.1748G>A (p.G583D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929642" "0" "10" "10" "112579944" "112579944" "del" "0" "02330" "RBM20_000353" "g.112579944del" "" "" "" "RBM20(NM_001134363.1):c.2655+10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929643" "0" "50" "10" "112581138" "112581138" "subst" "2.64236E-5" "02327" "RBM20_000226" "g.112581138A>T" "" "" "" "RBM20(NM_001134363.1):c.2761A>T (p.I921F, p.(Ile921Phe)), RBM20(NM_001134363.3):c.2761A>T (p.I921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929644" "0" "50" "10" "112581424" "112581424" "subst" "2.64316E-5" "02330" "RBM20_000354" "g.112581424G>A" "" "" "" "RBM20(NM_001134363.1):c.3047G>A (p.G1016D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929645" "0" "70" "10" "112583298" "112583299" "del" "0" "02325" "RBM20_000297" "g.112583298_112583299del" "" "" "" "RBM20(NM_001134363.1):c.3377_3378delTG (p.V1126Gfs*19), RBM20(NM_001134363.3):c.3377_3378delTG (p.V1126Gfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949340" "0" "50" "10" "112541077" "112541077" "subst" "0" "02325" "RBM20_000355" "g.112541077G>T" "" "" "" "RBM20(NM_001134363.1):c.710G>T (p.G237V), RBM20(NM_001134363.3):c.710G>T (p.G237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949341" "0" "30" "10" "112572368" "112572368" "subst" "0.000583237" "02326" "RBM20_000010" "g.112572368C>T" "" "" "" "RBM20(NM_001134363.1):c.2213C>T (p.P738L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949342" "0" "50" "10" "112572502" "112572502" "subst" "6.61131E-6" "02326" "RBM20_000356" "g.112572502A>G" "" "" "" "RBM20(NM_001134363.1):c.2347A>G (p.R783G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949343" "0" "50" "10" "112579844" "112579849" "del" "0" "02330" "RBM20_000265" "g.112579844_112579849del" "" "" "" "RBM20(NM_001134363.1):c.2565_2570delACAGGA (p.Q856_E857del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949344" "0" "10" "10" "112581424" "112581424" "subst" "0.000488985" "02330" "RBM20_000114" "g.112581424G>C" "" "" "" "RBM20(NM_001134363.1):c.3047G>C (p.G1016A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949345" "0" "30" "10" "112595620" "112595620" "subst" "2.05883E-5" "02326" "RBM20_000132" "g.112595620C>G" "" "" "" "RBM20(NM_001134363.1):c.3574-6C>G, RBM20(NM_001134363.3):c.3574-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957749" "0" "90" "10" "112572068" "112572068" "subst" "0" "00006" "RBM20_000208" "g.112572068C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110812310C>T" "" "pathogenic" "" "0000957758" "0" "50" "10" "112581039" "112581039" "subst" "0.00383603" "00006" "RBM20_000106" "g.112581039G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110821281G>A" "" "VUS" "" "0000957763" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000957770" "0" "50" "10" "112572217" "112572217" "subst" "0" "00006" "RBM20_000264" "g.112572217C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110812459C>T" "" "VUS" "" "0000957802" "0" "50" "10" "112572217" "112572217" "subst" "0" "00006" "RBM20_000264" "g.112572217C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110812459C>T" "" "VUS" "" "0000957839" "0" "70" "10" "112583337" "112583337" "subst" "6.60904E-6" "00006" "RBM20_000358" "g.112583337C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110823579C>T" "" "likely pathogenic" "" "0000957901" "0" "50" "10" "112595636" "112595636" "subst" "0.000288374" "00006" "RBM20_000134" "g.112595636C>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110835878C>A" "" "VUS" "" "0000957927" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000957928" "0" "50" "10" "112540556" "112540556" "subst" "0" "00006" "RBM20_000357" "g.112540556C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110780798C>T" "" "VUS" "" "0000957931" "0" "50" "10" "112544125" "112544125" "subst" "0.00554186" "00006" "RBM20_000008" "g.112544125C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110784367C>T" "" "VUS" "" "0000965585" "0" "30" "10" "112540908" "112540908" "subst" "0.000146253" "02325" "RBM20_000002" "g.112540908G>A" "" "" "" "RBM20(NM_001134363.3):c.541G>A (p.G181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965586" "0" "30" "10" "112541581" "112541581" "subst" "0" "02327" "RBM20_000359" "g.112541581T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965587" "0" "30" "10" "112572124" "112572124" "subst" "6.67619E-6" "02325" "RBM20_000080" "g.112572124T>A" "" "" "" "RBM20(NM_001134363.1):c.1969T>A (p.S657T), RBM20(NM_001134363.3):c.1969T>A (p.S657T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965588" "0" "30" "10" "112572125" "112572125" "subst" "6.67913E-6" "02325" "RBM20_000082" "g.112572125C>G" "" "" "" "RBM20(NM_001134363.1):c.1970C>G (p.S657C), RBM20(NM_001134363.3):c.1970C>G (p.S657C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965590" "0" "50" "10" "112572442" "112572442" "subst" "6.60982E-6" "02325" "RBM20_000360" "g.112572442G>A" "" "" "" "RBM20(NM_001134363.3):c.2287G>A (p.E763K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965591" "0" "50" "10" "112572506" "112572506" "subst" "6.61209E-6" "02327" "RBM20_000216" "g.112572506G>T" "" "" "" "RBM20(NM_001134363.1):c.2351G>T (p.R784M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965592" "0" "50" "10" "112581534" "112581534" "subst" "0" "02327" "RBM20_000361" "g.112581534G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965593" "0" "50" "10" "112581645" "112581645" "subst" "3.30526E-5" "02330" "RBM20_000174" "g.112581645A>T" "" "" "" "RBM20(NM_001134363.1):c.3268A>T (p.I1090F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965594" "0" "50" "10" "112590879" "112590879" "subst" "0" "02327" "RBM20_000362" "g.112590879C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965595" "0" "50" "10" "112590879" "112590879" "subst" "5.38307E-5" "02325" "RBM20_000363" "g.112590879C>T" "" "" "" "RBM20(NM_001134363.3):c.3512C>T (p.T1171M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978886" "0" "50" "10" "112404357" "112404357" "subst" "0" "02326" "RBM20_000025" "g.112404357C>T" "" "" "" "RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978887" "0" "50" "10" "112541077" "112541077" "subst" "0" "02330" "RBM20_000355" "g.112541077G>T" "" "" "" "RBM20(NM_001134363.1):c.710G>T (p.G237V), RBM20(NM_001134363.3):c.710G>T (p.G237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978888" "0" "50" "10" "112541506" "112541506" "subst" "1.33679E-5" "02326" "RBM20_000176" "g.112541506G>A" "" "" "" "RBM20(NM_001134363.1):c.1139G>A (p.R380Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978889" "0" "50" "10" "112544140" "112544140" "subst" "0" "02327" "RBM20_000364" "g.112544140T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978890" "0" "50" "10" "112557329" "112557329" "subst" "0" "02325" "RBM20_000365" "g.112557329A>G" "" "" "" "RBM20(NM_001134363.3):c.1591A>G (p.T531A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978891" "0" "50" "10" "112557399" "112557399" "subst" "0" "02330" "RBM20_000366" "g.112557399C>T" "" "" "" "RBM20(NM_001134363.1):c.1661C>T (p.T554I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978892" "0" "50" "10" "112572038" "112572038" "subst" "0" "02327" "RBM20_000367" "g.112572038A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978893" "0" "30" "10" "112581400" "112581400" "subst" "1.98274E-5" "02330" "RBM20_000016" "g.112581400G>A" "" "" "" "RBM20(NM_001134363.1):c.3023G>A (p.R1008Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978894" "0" "50" "10" "112595688" "112595688" "del" "0" "01804" "RBM20_000322" "g.112595688del" "" "" "" "RBM20(NM_001134363.3):c.3636del (p.(Arg1212SerfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985291" "0" "30" "10" "112581347" "112581347" "subst" "0" "03779" "RBM20_000368" "g.112581347C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000989261" "0" "50" "10" "112541292" "112541292" "subst" "8.05564E-5" "03779" "RBM20_000369" "g.112541292G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs397516625" "0" "" "" "" "" "VUS" "" "0000989663" "0" "50" "10" "112572301" "112572301" "subst" "1.33577E-5" "02515" "RBM20_000370" "g.112572301C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs1405564573" "0" "" "" "g.110812543C>T" "" "VUS" "" "0000989754" "0" "50" "10" "112572526" "112572526" "subst" "1.98426E-5" "02515" "RBM20_000371" "g.112572526C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs529403382" "0" "" "" "g.110812768C>T" "459690" "VUS" "" "0000989755" "0" "50" "10" "112595636" "112595636" "subst" "0.000288374" "02515" "RBM20_000134" "g.112595636C>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs753102653" "0" "" "" "g.110835878C>A" "194356" "VUS" "" "0000989756" "0" "50" "10" "112595668" "112595668" "subst" "4.84161E-5" "02515" "RBM20_000278" "g.112595668G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs757389650" "0" "" "" "g.110835910G>A" "" "VUS" "" "0000989757" "0" "50" "10" "112595688" "112595688" "del" "0" "02515" "RBM20_000322" "g.112595688del" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.110835930del" "" "VUS" "" "0000989802" "0" "50" "10" "112541542" "112541542" "subst" "1.3409E-5" "02515" "RBM20_000153" "g.112541542G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs751788298" "0" "" "" "g.110781784G>A" "" "VUS" "" "0000998101" "0" "50" "10" "112404249" "112404249" "subst" "0" "02325" "RBM20_000372" "g.112404249C>A" "" "" "" "RBM20(NM_001134363.3):c.37C>A (p.P13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998102" "0" "50" "10" "112404339" "112404339" "subst" "0" "02330" "RBM20_000373" "g.112404339C>A" "" "" "" "RBM20(NM_001134363.1):c.127C>A (p.Q43K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998103" "0" "50" "10" "112404344" "112404361" "dup" "0" "01804" "RBM20_000374" "g.112404344_112404361dup" "" "" "" "RBM20(NM_001134363.1):c.132_149dupGCCGCCGCCGCCCCAGCC (p.(Pro50_Pro51insProProProProGlnPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998104" "0" "30" "10" "112541047" "112541047" "subst" "0.00139415" "02326" "RBM20_000177" "g.112541047G>T" "" "" "" "RBM20(NM_001134363.1):c.680G>T (p.G227V), RBM20(NM_001134363.3):c.680G>T (p.G227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998105" "0" "30" "10" "112544656" "112544656" "subst" "0" "02330" "RBM20_000375" "g.112544656G>A" "" "" "" "RBM20(NM_001134363.1):c.1527+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998106" "0" "50" "10" "112557387" "112557387" "subst" "0" "01804" "RBM20_000376" "g.112557387T>C" "" "" "" "RBM20(NM_001134363.1):c.1649T>C (p.(Leu550Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998107" "0" "50" "10" "112559669" "112559669" "subst" "0" "01804" "RBM20_000377" "g.112559669A>C" "" "" "" "RBM20(NM_001134363.1):c.1793A>C (p.(Gln598Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998108" "0" "30" "10" "112572033" "112572033" "subst" "0.000986655" "01804" "RBM20_000073" "g.112572033C>T" "" "" "" "RBM20(NM_001134363.1):c.1881-3C>T (p.?), RBM20(NM_001134363.3):c.1881-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998109" "0" "90" "10" "112572055" "112572055" "subst" "0" "02329" "RBM20_000076" "g.112572055C>T" "" "" "" "RBM20(NM_001134363.1):c.1900C>T (p.R634W), RBM20(NM_001134363.3):c.1900C>T (p.R634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998110" "0" "50" "10" "112572151" "112572151" "subst" "0.000153898" "02326" "RBM20_000210" "g.112572151C>T" "" "" "" "RBM20(NM_001134363.1):c.1996C>T (p.R666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998111" "0" "30" "10" "112581282" "112581282" "subst" "0.000118334" "02326" "RBM20_000227" "g.112581282G>A" "" "" "" "RBM20(NM_001134363.1):c.2905G>A (p.V969I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998112" "0" "50" "10" "112590845" "112590845" "subst" "1.34642E-5" "02327" "RBM20_000293" "g.112590845G>A" "" "" "" "RBM20(NM_001134363.1):c.3478G>A (p.G1160S), RBM20(NM_001134363.3):c.3478G>A (p.G1160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998113" "0" "10" "10" "112590916" "112590916" "subst" "7.40342E-5" "02330" "RBM20_000378" "g.112590916C>T" "" "" "" "RBM20(NM_001134363.1):c.3549C>T (p.S1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998114" "0" "30" "10" "112595714" "112595714" "subst" "2.98365E-5" "02326" "RBM20_000379" "g.112595714G>A" "" "" "" "RBM20(NM_001134363.1):c.3662G>A (p.R1221H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014586" "0" "50" "10" "112540570" "112540570" "subst" "0" "02330" "RBM20_000380" "g.112540570T>C" "" "" "" "RBM20(NM_001134363.1):c.203T>C (p.L68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014587" "0" "50" "10" "112540719" "112540719" "subst" "1.32127E-5" "02327" "RBM20_000253" "g.112540719A>G" "" "" "" "RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014588" "0" "50" "10" "112540719" "112540719" "subst" "1.32127E-5" "02325" "RBM20_000253" "g.112540719A>G" "" "" "" "RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014589" "0" "50" "10" "112572382" "112572382" "subst" "0" "02330" "RBM20_000381" "g.112572382C>A" "" "" "" "RBM20(NM_001134363.1):c.2227C>A (p.P743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014590" "0" "50" "10" "112572548" "112572548" "subst" "9.93075E-5" "02330" "RBM20_000334" "g.112572548C>T" "" "" "" "RBM20(NM_001134363.1):c.2393C>T (p.P798L), RBM20(NM_001134363.3):c.2393C>T (p.P798L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025707" "0" "30" "10" "112541502" "112541502" "subst" "0.000487115" "02326" "RBM20_000150" "g.112541502G>A" "" "" "" "RBM20(NM_001134363.1):c.1135G>A (p.G379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025708" "0" "50" "10" "112572227" "112572227" "subst" "0" "02326" "RBM20_000382" "g.112572227C>T" "" "" "" "RBM20(NM_001134363.1):c.2072C>T (p.A691V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025709" "0" "50" "10" "112572308" "112572308" "subst" "6.66738E-5" "02330" "RBM20_000383" "g.112572308T>C" "" "" "" "RBM20(NM_001134363.1):c.2153T>C (p.L718P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025710" "0" "30" "10" "112572356" "112572356" "subst" "7.29327E-5" "02325" "RBM20_000213" "g.112572356G>A" "" "" "" "RBM20(NM_001134363.1):c.2201G>A (p.R734Q), RBM20(NM_001134363.3):c.2201G>A (p.R734Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025711" "0" "50" "10" "112572473" "112572473" "subst" "0.00074028" "01943" "RBM20_000215" "g.112572473A>G" "" "" "" "RBM20(NM_001134363.1):c.2318A>G (p.K773R), RBM20(NM_001134363.3):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025712" "0" "50" "10" "112581403" "112581403" "subst" "0" "02325" "RBM20_000384" "g.112581403A>G" "" "" "" "RBM20(NM_001134363.3):c.3026A>G (p.K1009R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025713" "0" "30" "10" "112583382" "112583382" "subst" "0" "02326" "RBM20_000385" "g.112583382A>C" "" "" "" "RBM20(NM_001134363.1):c.3451+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037717" "0" "30" "10" "112404353" "112404355" "dup" "0" "01804" "RBM20_000386" "g.112404353_112404355dup" "" "" "" "RBM20(NM_001134363.3):c.141_143dup (p.(Pro48dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037718" "0" "10" "10" "112570224" "112570226" "dup" "0" "01804" "RBM20_000069" "g.112570224_112570226dup" "" "" "" "RBM20(NM_001134363.1):c.1880+4_1880+6dupAGG, RBM20(NM_001134363.3):c.1880+4_1880+6dup, RBM20(NM_001134363.3):c.1880+4_1880+6dupAGG, RBM20(NM_00113...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037719" "0" "50" "10" "112581282" "112581282" "subst" "0.000118334" "02330" "RBM20_000227" "g.112581282G>A" "" "" "" "RBM20(NM_001134363.1):c.2905G>A (p.V969I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037720" "0" "50" "10" "112583227" "112583227" "subst" "0" "02326" "RBM20_000387" "g.112583227A>C" "" "" "" "RBM20(NM_001134363.1):c.3317-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037721" "0" "50" "10" "112583339" "112583339" "subst" "0" "01804" "RBM20_000388" "g.112583339G>A" "" "" "" "RBM20(NM_001134363.3):c.3418G>A (p.(Glu1140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045160" "0" "70" "10" "110812298" "110812298" "subst" "0" "00006" "RBM20_000263" "g.110812298G>A" "1/60 cases" "{PMID:Cao 2025:40364824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112572056G>A" "" "likely pathogenic" "" "0001046220" "0" "30" "10" "112572149" "112572149" "subst" "2.00779E-5" "02327" "RBM20_000389" "g.112572149C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046961" "0" "50" "10" "112572051" "112572051" "subst" "6.86031E-6" "03779" "RBM20_000390" "g.112572051G>C" "" "" "" "" "" "Unknown" "" "rs767451635" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RBM20 ## Count = 711 "{{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}}" "0000036108" "00017518" "55" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Ser637Asn)" "9" "0000095207" "00017518" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "2" "0000095298" "00017518" "50" "3266" "0" "3266" "0" "c.3266C>G" "r.(?)" "p.(Pro1089Arg)" "11" "0000095319" "00017518" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "2" "0000095340" "00017518" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "12" "0000095407" "00017518" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "2" "0000095421" "00017518" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "12" "0000095440" "00017518" "50" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Pro738Leu)" "9" "0000095441" "00017518" "50" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(His747Tyr)" "9" "0000095495" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000095499" "00017518" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "12" "0000095525" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000095547" "00017518" "50" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Val545Ile)" "6" "0000095574" "00017518" "50" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Arg1008Gln)" "11" "0000095639" "00017518" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "12" "0000095668" "00017518" "50" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Arg589Gln)" "7" "0000095683" "00017518" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "12" "0000095735" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000095737" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000096498" "00017518" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Arg)" "2" "0000096516" "00017518" "50" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "11" "0000217972" "00017518" "50" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Asp724Asn)" "" "0000218396" "00017518" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Glu353Lys)" "" "0000218451" "00017518" "50" "3422" "0" "3422" "0" "c.3422A>G" "r.(?)" "p.(Asp1141Gly)" "" "0000246871" "00017518" "10" "2655" "15" "2655" "15" "c.2655+15A>G" "r.(=)" "p.(=)" "" "0000246873" "00017518" "10" "1275" "13" "1275" "13" "c.1275+13A>G" "r.(=)" "p.(=)" "" "0000246886" "00017518" "10" "150" "0" "150" "0" "c.150A>T" "r.(?)" "p.(Pro50=)" "" "0000246890" "00017518" "50" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Lys963Glu)" "" "0000246896" "00017518" "10" "3451" "14" "3451" "14" "c.3451+14A>G" "r.(=)" "p.(=)" "" "0000246897" "00017518" "50" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Tyr681Cys)" "" "0000246898" "00017518" "50" "1455" "0" "1455" "0" "c.1455A>G" "r.(?)" "p.(Ser485=)" "" "0000246903" "00017518" "50" "3578" "0" "3578" "0" "c.3578A>G" "r.(?)" "p.(Tyr1193Cys)" "" "0000246904" "00017518" "10" "2616" "0" "2616" "0" "c.2616A>G" "r.(?)" "p.(Glu872=)" "" "0000246961" "00017518" "50" "2183" "0" "2183" "0" "c.2183A>G" "r.(?)" "p.(Glu728Gly)" "" "0000246973" "00017518" "50" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Thr257Ala)" "" "0000246975" "00017518" "50" "3578" "0" "3578" "0" "c.3578A>C" "r.(?)" "p.(Tyr1193Ser)" "" "0000248049" "00017518" "30" "1275" "13" "1275" "13" "c.1275+13A>G" "r.(=)" "p.(=)" "" "0000248119" "00017518" "30" "150" "0" "150" "0" "c.150A>C" "r.(?)" "p.(Pro50=)" "" "0000248294" "00017518" "50" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Tyr681Cys)" "" "0000249711" "00017518" "50" "3578" "0" "3578" "0" "c.3578A>G" "r.(?)" "p.(Tyr1193Cys)" "" "0000250680" "00017518" "10" "2655" "15" "2655" "15" "c.2655+15A>G" "r.(=)" "p.(=)" "" "0000251744" "00017518" "30" "3451" "14" "3451" "14" "c.3451+14A>G" "r.(=)" "p.(=)" "" "0000252639" "00017518" "50" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Tyr681Cys)" "" "0000252640" "00017518" "50" "1455" "0" "1455" "0" "c.1455A>G" "r.(?)" "p.(Ser485=)" "" "0000253032" "00017518" "10" "2655" "15" "2655" "15" "c.2655+15A>G" "r.(=)" "p.(=)" "" "0000253310" "00017518" "10" "1275" "13" "1275" "13" "c.1275+13A>G" "r.(=)" "p.(=)" "" "0000253838" "00017518" "10" "1880" "11" "1880" "11" "c.1880+11A>G" "r.(=)" "p.(=)" "" "0000254109" "00017518" "30" "150" "0" "150" "0" "c.150A>C" "r.(?)" "p.(Pro50=)" "" "0000254140" "00017518" "30" "150" "0" "150" "0" "c.150A>T" "r.(?)" "p.(Pro50=)" "" "0000254479" "00017518" "30" "3268" "0" "3268" "0" "c.3268A>T" "r.(?)" "p.(Ile1090Phe)" "" "0000254916" "00017518" "30" "146" "0" "146" "0" "c.146A>C" "r.(?)" "p.(Gln49Pro)" "" "0000255820" "00017518" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Lys963Glu)" "" "0000256366" "00017518" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "" "0000294686" "00017518" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0000294687" "00017518" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0000294688" "00017518" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Ala387=)" "" "0000294689" "00017518" "50" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000294690" "00017518" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Pro393=)" "" "0000294691" "00017518" "10" "1275" "8" "1275" "8" "c.1275+8G>T" "r.(=)" "p.(=)" "" "0000294693" "00017518" "10" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000294694" "00017518" "10" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(His436=)" "" "0000294695" "00017518" "10" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000294696" "00017518" "50" "1494" "0" "1494" "0" "c.1494C>A" "r.(?)" "p.(Ser498Arg)" "" "0000294697" "00017518" "10" "1527" "8" "1527" "8" "c.1527+8C>T" "r.(=)" "p.(=)" "" "0000294698" "00017518" "10" "1528" "-16" "1528" "-16" "c.1528-16T>C" "r.(=)" "p.(=)" "" "0000294699" "00017518" "50" "1528" "-1" "1528" "-1" "c.1528-1G>C" "r.spl?" "p.?" "" "0000294700" "00017518" "10" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000294701" "00017518" "50" "1760" "0" "1760" "0" "c.1760T>A" "r.(?)" "p.(Leu587His)" "" "0000294702" "00017518" "10" "1801" "-11" "1801" "-11" "c.1801-11G>C" "r.(=)" "p.(=)" "" "0000294703" "00017518" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Ala605=)" "" "0000294704" "00017518" "10" "186" "0" "186" "0" "c.186C>A" "r.(?)" "p.(Ile62=)" "" "0000294706" "00017518" "10" "1881" "-3" "1881" "-3" "c.1881-3C>T" "r.spl?" "p.?" "" "0000294707" "00017518" "90" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000294708" "00017518" "10" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(Pro638=)" "" "0000294709" "00017518" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Thr653Ile)" "" "0000294712" "00017518" "10" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "0000294713" "00017518" "10" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000294714" "00017518" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Gly672Ser)" "" "0000294715" "00017518" "50" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716Gln)" "" "0000294716" "00017518" "50" "2183" "0" "2185" "0" "c.2183_2185del" "r.(?)" "p.(Glu728del)" "" "0000294717" "00017518" "10" "2196" "0" "2196" "0" "c.2196C>T" "r.(?)" "p.(Pro732=)" "" "0000294718" "00017518" "10" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Pro738Leu)" "" "0000294719" "00017518" "10" "2214" "0" "2214" "0" "c.2214G>A" "r.(?)" "p.(Pro738=)" "" "0000294720" "00017518" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Leu)" "" "0000294721" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>C" "r.(?)" "p.(Trp768Ser)" "" "0000294722" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>T" "r.(?)" "p.(Trp768Leu)" "" "0000294723" "00017518" "10" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Pro779=)" "" "0000294724" "00017518" "10" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gly808=)" "" "0000294725" "00017518" "10" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000294726" "00017518" "10" "288" "0" "288" "0" "c.288C>G" "r.(?)" "p.(Ala96=)" "" "0000294727" "00017518" "10" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Ser1048=)" "" "0000294728" "00017518" "10" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000294729" "00017518" "10" "3316" "9" "3316" "9" "c.3316+9C>T" "r.(=)" "p.(=)" "" "0000294730" "00017518" "10" "3317" "-18" "3317" "-18" "c.3317-18T>C" "r.(=)" "p.(=)" "" "0000294731" "00017518" "10" "3317" "-20" "3317" "-20" "c.3317-20C>T" "r.(=)" "p.(=)" "" "0000294732" "00017518" "10" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Tyr1110=)" "" "0000294733" "00017518" "10" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "" "0000294734" "00017518" "50" "3391" "0" "3391" "0" "c.3391C>T" "r.(?)" "p.(Pro1131Ser)" "" "0000294735" "00017518" "10" "3452" "-10" "3452" "-10" "c.3452-10C>T" "r.(=)" "p.(=)" "" "0000294736" "00017518" "10" "3452" "-9" "3452" "-9" "c.3452-9G>C" "r.(=)" "p.(=)" "" "0000294737" "00017518" "10" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Ala116=)" "" "0000294738" "00017518" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Ala117Thr)" "" "0000294739" "00017518" "50" "3584" "0" "3584" "0" "c.3584C>A" "r.(?)" "p.(Ser1195Tyr)" "" "0000294740" "00017518" "50" "3595" "0" "3595" "0" "c.3595G>A" "r.(?)" "p.(Glu1199Lys)" "" "0000294741" "00017518" "10" "3667" "0" "3667" "0" "c.3667G>C" "r.(?)" "p.(Glu1223Gln)" "" "0000294742" "00017518" "50" "415" "0" "415" "0" "c.415C>A" "r.(?)" "p.(His139Asn)" "" "0000294743" "00017518" "50" "468" "0" "470" "0" "c.468_470del" "r.(?)" "p.(Ala158del)" "" "0000294744" "00017518" "10" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "" "0000294745" "00017518" "10" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Glu230=)" "" "0000294746" "00017518" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000294747" "00017518" "50" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ser258Leu)" "" "0000294748" "00017518" "10" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Ser258=)" "" "0000294749" "00017518" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Thr262Ser)" "" "0000294750" "00017518" "10" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Ser294=)" "" "0000294751" "00017518" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Arg30=)" "" "0000294752" "00017518" "50" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Pro310Leu)" "" "0000294753" "00017518" "30" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Leu311=)" "" "0000297579" "00017518" "30" "1101" "0" "1101" "0" "c.1101G>T" "r.(?)" "p.(Arg367=)" "" "0000297580" "00017518" "70" "1118" "0" "1119" "0" "c.1118_1119del" "r.(?)" "p.(Gln373ArgfsTer25)" "" "0000297581" "00017518" "30" "1275" "8" "1275" "8" "c.1275+8G>T" "r.(=)" "p.(=)" "" "0000297582" "00017518" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000297583" "00017518" "30" "1338" "-18" "1338" "-18" "c.1338-18C>T" "r.(=)" "p.(=)" "" "0000297584" "00017518" "30" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000297585" "00017518" "30" "1430" "-20" "1430" "-19" "c.1430-20_1430-19del" "r.(=)" "p.(=)" "" "0000297586" "00017518" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49Ter)" "" "0000297587" "00017518" "30" "1527" "18" "1527" "18" "c.1527+18T>G" "r.(=)" "p.(=)" "" "0000297588" "00017518" "30" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Phe510Ser)" "" "0000297589" "00017518" "30" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000297590" "00017518" "10" "1801" "-11" "1801" "-11" "c.1801-11G>C" "r.(=)" "p.(=)" "" "0000297591" "00017518" "30" "1880" "4" "1880" "6" "c.1880+4_1880+6dup" "r.spl?" "p.?" "" "0000297592" "00017518" "10" "1881" "-3" "1881" "-3" "c.1881-3C>T" "r.spl?" "p.?" "" "0000297593" "00017518" "50" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Arg632Lys)" "" "0000297594" "00017518" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Pro633Leu)" "" "0000297595" "00017518" "90" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000297596" "00017518" "90" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Ser637Asn)" "" "0000297597" "00017518" "30" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "0000297598" "00017518" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000297599" "00017518" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Gly672Ser)" "" "0000297600" "00017518" "50" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716Gln)" "" "0000297601" "00017518" "70" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726Ter)" "" "0000297602" "00017518" "30" "2196" "0" "2196" "0" "c.2196C>T" "r.(?)" "p.(Pro732=)" "" "0000297603" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>C" "r.(?)" "p.(Trp768Ser)" "" "0000297604" "00017518" "30" "2450" "0" "2450" "0" "c.2450G>T" "r.(?)" "p.(Gly817Val)" "" "0000297605" "00017518" "30" "2550" "12" "2550" "12" "c.2550+12T>C" "r.(=)" "p.(=)" "" "0000297606" "00017518" "30" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000297607" "00017518" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Ser1048=)" "" "0000297608" "00017518" "30" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000297609" "00017518" "30" "3314" "0" "3314" "0" "c.3314C>T" "r.(?)" "p.(Pro1105Leu)" "" "0000297610" "00017518" "30" "3316" "9" "3316" "9" "c.3316+9C>T" "r.(=)" "p.(=)" "" "0000297611" "00017518" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "" "0000297612" "00017518" "10" "3452" "-9" "3452" "-9" "c.3452-9G>C" "r.(=)" "p.(=)" "" "0000297613" "00017518" "30" "3504" "0" "3504" "0" "c.3504G>A" "r.(?)" "p.(Leu1168=)" "" "0000297614" "00017518" "30" "3573" "16" "3573" "16" "c.3573+16C>T" "r.(=)" "p.(=)" "" "0000297615" "00017518" "30" "3574" "-6" "3574" "-6" "c.3574-6C>G" "r.(=)" "p.(=)" "" "0000297616" "00017518" "10" "3667" "0" "3667" "0" "c.3667G>C" "r.(?)" "p.(Glu1223Gln)" "" "0000297617" "00017518" "50" "468" "0" "470" "0" "c.468_470del" "r.(?)" "p.(Ala158del)" "" "0000297618" "00017518" "30" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "" "0000297619" "00017518" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000297620" "00017518" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Glu)" "" "0000299266" "00017518" "50" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Gln568Ter)" "" "0000301393" "00017518" "30" "1275" "8" "1275" "8" "c.1275+8G>T" "r.(=)" "p.(=)" "" "0000301394" "00017518" "30" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(Asn446=)" "" "0000301395" "00017518" "10" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000301396" "00017518" "10" "1801" "-11" "1801" "-11" "c.1801-11G>C" "r.(=)" "p.(=)" "" "0000301397" "00017518" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000301398" "00017518" "50" "2017" "0" "2017" "0" "c.2017C>T" "r.(?)" "p.(Arg673Trp)" "" "0000301399" "00017518" "50" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716Gln)" "" "0000301400" "00017518" "30" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Glu725=)" "" "0000301401" "00017518" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Gly758Ser)" "" "0000301402" "00017518" "50" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794Lys)" "" "0000301403" "00017518" "10" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000301404" "00017518" "50" "2973" "0" "2973" "0" "c.2973T>A" "r.(?)" "p.(Cys991Ter)" "" "0000301405" "00017518" "30" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000301406" "00017518" "50" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "" "0000301407" "00017518" "50" "3262" "0" "3262" "0" "c.3262C>G" "r.(?)" "p.(Pro1088Ala)" "" "0000301408" "00017518" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "" "0000301409" "00017518" "50" "3550" "0" "3550" "0" "c.3550G>A" "r.(?)" "p.(Ala1184Thr)" "" "0000301410" "00017518" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(His147=)" "" "0000301411" "00017518" "10" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "" "0000301412" "00017518" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000301413" "00017518" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Arg30=)" "" "0000306796" "00017518" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Arg)" "" "0000306797" "00017518" "30" "1101" "0" "1101" "0" "c.1101G>T" "r.(?)" "p.(Arg367=)" "" "0000306798" "00017518" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0000306799" "00017518" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Pro38Leu)" "" "0000306800" "00017518" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Pro38=)" "" "0000306801" "00017518" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Pro393=)" "" "0000306802" "00017518" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Asp401Asn)" "" "0000306803" "00017518" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" "" "0000306804" "00017518" "50" "1267" "0" "1267" "0" "c.1267G>T" "r.(?)" "p.(Asp423Tyr)" "" "0000306806" "00017518" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000306807" "00017518" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(His436=)" "" "0000306808" "00017518" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Trp)" "" "0000306809" "00017518" "10" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000306810" "00017518" "30" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Leu460=)" "" "0000306811" "00017518" "30" "1430" "-20" "1430" "-19" "c.1430-20_1430-19del" "r.(=)" "p.(=)" "" "0000306812" "00017518" "10" "146" "0" "147" "0" "c.146_147del" "r.(?)" "p.(Gln49ProfsTer29)" "" "0000306813" "00017518" "30" "147" "0" "147" "0" "c.147G>C" "r.(?)" "p.(Gln49His)" "" "0000306814" "00017518" "10" "1527" "22" "1527" "22" "c.1527+22C>G" "r.(=)" "p.(=)" "" "0000306815" "00017518" "10" "1527" "8" "1527" "8" "c.1527+8C>T" "r.(=)" "p.(=)" "" "0000306816" "00017518" "30" "153" "0" "153" "0" "c.153G>C" "r.(?)" "p.(Pro51=)" "" "0000306817" "00017518" "30" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.(Pro53=)" "" "0000306818" "00017518" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Asp534=)" "" "0000306819" "00017518" "10" "164" "0" "166" "0" "c.164_166del" "r.(?)" "p.(Gln55_Ala56delinsPro)" "" "0000306820" "00017518" "30" "166" "0" "166" "0" "c.166G>C" "r.(?)" "p.(Ala56Pro)" "" "0000306821" "00017518" "10" "169" "0" "174" "0" "c.169_174del" "r.(?)" "p.(Gly57_Leu58del)" "" "0000306822" "00017518" "30" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Gly583Asp)" "" "0000306823" "00017518" "30" "1814" "0" "1814" "0" "c.1814C>T" "r.(?)" "p.(Ala605Val)" "" "0000306824" "00017518" "30" "186" "0" "186" "0" "c.186C>A" "r.(?)" "p.(Ile62=)" "" "0000306825" "00017518" "10" "1880" "23" "1880" "23" "c.1880+23T>C" "r.(=)" "p.(=)" "" "0000306826" "00017518" "30" "1880" "10" "1880" "10" "c.1880+10dup" "r.(=)" "p.(=)" "" "0000306827" "00017518" "10" "1881" "-3" "1881" "-3" "c.1881-3C>T" "r.spl?" "p.?" "" "0000306828" "00017518" "70" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000306829" "00017518" "50" "1912" "0" "1912" "0" "c.1912C>A" "r.(?)" "p.(Pro638Thr)" "" "0000306830" "00017518" "10" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(Pro638=)" "" "0000306831" "00017518" "30" "1969" "0" "1970" "0" "c.1969_1970delinsAG" "r.(?)" "p.(Ser657=)" "" "0000306832" "00017518" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(His659Tyr)" "" "0000306833" "00017518" "10" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "0000306834" "00017518" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000306835" "00017518" "50" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Gly697Arg)" "" "0000306836" "00017518" "30" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Pro738Leu)" "" "0000306837" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>C" "r.(?)" "p.(Trp768Ser)" "" "0000306838" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>T" "r.(?)" "p.(Trp768Leu)" "" "0000306839" "00017518" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Pro779=)" "" "0000306840" "00017518" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000306841" "00017518" "30" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gly808=)" "" "0000306842" "00017518" "30" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000306843" "00017518" "30" "2634" "0" "2634" "0" "c.2634G>A" "r.(?)" "p.(Pro878=)" "" "0000306844" "00017518" "30" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000306845" "00017518" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Glu913Lys)" "" "0000306846" "00017518" "50" "2919" "0" "2919" "0" "c.2919del" "r.(?)" "p.(Ala974GlnfsTer29)" "" "0000306847" "00017518" "30" "2953" "0" "2953" "0" "c.2953C>T" "r.(?)" "p.(Pro985Ser)" "" "0000306848" "00017518" "50" "2986" "0" "2986" "0" "c.2986G>T" "r.(?)" "p.(Asp996Tyr)" "" "0000306849" "00017518" "30" "3003" "0" "3003" "0" "c.3003C>G" "r.(?)" "p.(Gly1001=)" "" "0000306850" "00017518" "30" "3047" "0" "3047" "0" "c.3047G>C" "r.(?)" "p.(Gly1016Ala)" "" "0000306851" "00017518" "10" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Ser1048=)" "" "0000306852" "00017518" "30" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000306853" "00017518" "30" "3317" "-20" "3317" "-20" "c.3317-20C>T" "r.(=)" "p.(=)" "" "0000306854" "00017518" "50" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Ser1115Phe)" "" "0000306855" "00017518" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "" "0000306856" "00017518" "10" "3452" "-10" "3452" "-10" "c.3452-10C>T" "r.(=)" "p.(=)" "" "0000306857" "00017518" "10" "3452" "-9" "3452" "-9" "c.3452-9G>C" "r.(=)" "p.(=)" "" "0000306858" "00017518" "30" "3504" "0" "3504" "0" "c.3504G>A" "r.(?)" "p.(Leu1168=)" "" "0000306859" "00017518" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Asn121=)" "" "0000306860" "00017518" "10" "3667" "0" "3667" "0" "c.3667G>C" "r.(?)" "p.(Glu1223Gln)" "" "0000306861" "00017518" "70" "414" "0" "414" "0" "c.414del" "r.(?)" "p.(Arg138SerfsTer5)" "" "0000306862" "00017518" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Ala150Thr)" "" "0000306863" "00017518" "70" "468" "0" "470" "0" "c.468_470del" "r.(?)" "p.(Ala158del)" "" "0000306864" "00017518" "10" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "" "0000306865" "00017518" "10" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Ile)" "" "0000306866" "00017518" "50" "544" "0" "544" "0" "c.544C>A" "r.(?)" "p.(Pro182Thr)" "" "0000306867" "00017518" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000306868" "00017518" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Ala234Val)" "" "0000306869" "00017518" "30" "807" "0" "807" "0" "c.807C>G" "r.(?)" "p.(His269Gln)" "" "0000306870" "00017518" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Arg30=)" "" "0000306871" "00017518" "30" "969" "0" "969" "0" "c.969T>C" "r.(?)" "p.(His323=)" "" "0000368361" "00017518" "50" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ser258Leu)" "2" "0000455428" "00017518" "30" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380Gln)" "" "0000470394" "00017518" "70" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "9" "0000470405" "00017518" "50" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "2" "0000539032" "00017518" "30" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Ala11Val)" "" "0000539033" "00017518" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Arg30=)" "" "0000539034" "00017518" "50" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Gly37Arg)" "" "0000539035" "00017518" "10" "128" "0" "130" "0" "c.128_130dup" "r.(?)" "p.(Gln43dup)" "" "0000539036" "00017518" "10" "128" "0" "130" "0" "c.128_130dup" "r.(?)" "p.(Gln43dup)" "" "0000539037" "00017518" "30" "135" "0" "135" "0" "c.135G>C" "r.(?)" "p.(Pro45=)" "" "0000539038" "00017518" "30" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(Pro46=)" "" "0000539039" "00017518" "30" "141" "0" "141" "0" "c.141G>C" "r.(?)" "p.(Pro47=)" "" "0000539040" "00017518" "50" "141" "0" "142" "0" "c.141_142del" "r.(?)" "p.(Gln49AlafsTer29)" "" "0000539041" "00017518" "30" "146" "0" "146" "0" "c.146A>C" "r.(?)" "p.(Gln49Pro)" "" "0000539042" "00017518" "30" "150" "0" "150" "0" "c.150A>C" "r.(?)" "p.(Pro50=)" "" "0000539043" "00017518" "30" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(Gln55Pro)" "" "0000539044" "00017518" "30" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(Gln55Pro)" "" "0000539045" "00017518" "50" "247" "0" "247" "0" "c.247C>A" "r.(?)" "p.(Leu83Ile)" "" "0000539046" "00017518" "10" "255" "0" "255" "0" "c.255A>C" "r.(?)" "p.(Ser85=)" "" "0000539047" "00017518" "30" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Leu94=)" "" "0000539048" "00017518" "30" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Leu94=)" "" "0000539049" "00017518" "50" "419" "0" "419" "0" "c.419del" "r.(?)" "p.(Pro140ArgfsTer3)" "" "0000539050" "00017518" "10" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Ala150Thr)" "" "0000539051" "00017518" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Ala150Val)" "" "0000539052" "00017518" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000539053" "00017518" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000539054" "00017518" "30" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000539056" "00017518" "10" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "" "0000539057" "00017518" "30" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Ile)" "" "0000539058" "00017518" "10" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000539059" "00017518" "30" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000539060" "00017518" "30" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000539061" "00017518" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000539062" "00017518" "30" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Thr262Ser)" "" "0000539063" "00017518" "70" "846" "0" "853" "0" "c.846_853del" "r.(?)" "p.(Tyr283GlnfsTer14)" "" "0000539064" "00017518" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Tyr283=)" "" "0000539065" "00017518" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Tyr283=)" "" "0000539066" "00017518" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000539067" "00017518" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000539068" "00017518" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000539069" "00017518" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000539070" "00017518" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000539071" "00017518" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(His343Tyr)" "" "0000539072" "00017518" "50" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Tyr350Cys)" "" "0000539073" "00017518" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Asp351=)" "" "0000539074" "00017518" "10" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Asp351=)" "" "0000539075" "00017518" "10" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Ile376=)" "" "0000539076" "00017518" "30" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Gly377Ser)" "" "0000539077" "00017518" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Val391Met)" "" "0000539078" "00017518" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Val391Met)" "" "0000539079" "00017518" "30" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Val391Ala)" "" "0000539080" "00017518" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Pro393=)" "" "0000539081" "00017518" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Pro393=)" "" "0000539082" "00017518" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Asp401Asn)" "" "0000539083" "00017518" "50" "1257" "0" "1257" "0" "c.1257G>C" "r.(?)" "p.(Lys419Asn)" "" "0000539084" "00017518" "30" "1275" "8" "1275" "8" "c.1275+8G>T" "r.(=)" "p.(=)" "" "0000539085" "00017518" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000539086" "00017518" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000539087" "00017518" "10" "1430" "-20" "1430" "-19" "c.1430-20_1430-19del" "r.(=)" "p.(=)" "" "0000539088" "00017518" "50" "1436" "0" "1436" "0" "c.1436C>A" "r.(?)" "p.(Ala479Asp)" "" "0000539089" "00017518" "50" "1455" "0" "1455" "0" "c.1455A>G" "r.(?)" "p.(Ser485=)" "" "0000539090" "00017518" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Phe494=)" "" "0000539091" "00017518" "30" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Phe494=)" "" "0000539092" "00017518" "30" "1527" "18" "1527" "18" "c.1527+18T>G" "r.(=)" "p.(=)" "" "0000539093" "00017518" "50" "1528" "-1" "1528" "-1" "c.1528-1G>C" "r.spl?" "p.?" "" "0000539094" "00017518" "50" "1528" "-1" "1528" "-1" "c.1528-1G>C" "r.spl?" "p.?" "" "0000539095" "00017518" "50" "1528" "-1" "1528" "-1" "c.1528-1G>C" "r.spl?" "p.?" "" "0000539096" "00017518" "10" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Asp534=)" "" "0000539097" "00017518" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Val545Ile)" "" "0000539098" "00017518" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Val545Ile)" "" "0000539099" "00017518" "30" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000539101" "00017518" "50" "1766" "0" "1766" "0" "c.1766G>T" "r.(?)" "p.(Arg589Leu)" "" "0000539102" "00017518" "10" "1801" "-11" "1801" "-11" "c.1801-11G>C" "r.(=)" "p.(=)" "" "0000539103" "00017518" "50" "1814" "0" "1814" "0" "c.1814C>T" "r.(?)" "p.(Ala605Val)" "" "0000539104" "00017518" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Ile613=)" "" "0000539105" "00017518" "10" "1880" "4" "1880" "6" "c.1880+4_1880+6dup" "r.spl?" "p.?" "" "0000539106" "00017518" "10" "1881" "-19" "1881" "-19" "c.1881-19C>T" "r.(=)" "p.(=)" "" "0000539107" "00017518" "90" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000539108" "00017518" "90" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "" "0000539109" "00017518" "10" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(Pro638=)" "" "0000539110" "00017518" "50" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Ser654=)" "" "0000539111" "00017518" "30" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Ser654=)" "" "0000539112" "00017518" "50" "1969" "0" "1969" "0" "c.1969T>A" "r.(?)" "p.(Ser657Thr)" "" "0000539113" "00017518" "30" "1969" "0" "1970" "0" "c.1969_1970delinsAG" "r.(?)" "p.(Ser657=)" "" "0000539114" "00017518" "50" "1970" "0" "1970" "0" "c.1970C>G" "r.(?)" "p.(Ser657Cys)" "" "0000539115" "00017518" "30" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "0000539116" "00017518" "30" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "0000539117" "00017518" "10" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000539118" "00017518" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Trp)" "" "0000539120" "00017518" "50" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Tyr681Cys)" "" "0000539121" "00017518" "30" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Tyr681Cys)" "" "0000539122" "00017518" "30" "2116" "0" "2116" "0" "c.2116C>A" "r.(?)" "p.(Pro706Thr)" "" "0000539123" "00017518" "50" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Glu725Lys)" "" "0000539124" "00017518" "70" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726Ter)" "" "0000539125" "00017518" "50" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Arg734Gln)" "" "0000539127" "00017518" "50" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(His747Tyr)" "" "0000539128" "00017518" "70" "2247" "0" "2248" "0" "c.2247_2248del" "r.(?)" "p.(Ser750GlnfsTer6)" "" "0000539129" "00017518" "10" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0000539130" "00017518" "30" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0000539131" "00017518" "30" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0000539132" "00017518" "50" "2351" "0" "2351" "0" "c.2351G>T" "r.(?)" "p.(Arg784Met)" "" "0000539133" "00017518" "70" "2351" "0" "2351" "0" "c.2351G>T" "r.(?)" "p.(Arg784Met)" "" "0000539134" "00017518" "10" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Asp786=)" "" "0000539135" "00017518" "30" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Asp786=)" "" "0000539136" "00017518" "50" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "0000539137" "00017518" "30" "2388" "0" "2388" "0" "c.2388C>G" "r.(?)" "p.(Pro796=)" "" "0000539138" "00017518" "30" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gly808=)" "" "0000539139" "00017518" "50" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Ala818Ser)" "" "0000539141" "00017518" "50" "2497" "0" "2497" "0" "c.2497A>G" "r.(?)" "p.(Arg833Gly)" "" "0000539142" "00017518" "30" "2655" "15" "2655" "15" "c.2655+15A>G" "r.(=)" "p.(=)" "" "0000539143" "00017518" "50" "2663" "0" "2663" "0" "c.2663A>T" "r.(?)" "p.(Asp888Val)" "" "0000539144" "00017518" "50" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Met)" "" "0000539145" "00017518" "50" "2736" "0" "2736" "0" "c.2736C>G" "r.(?)" "p.(Asp912Glu)" "" "0000539146" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000539147" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000539148" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000539149" "00017518" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Lys963Glu)" "" "0000539150" "00017518" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Lys963Glu)" "" "0000539151" "00017518" "30" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Val969Ile)" "" "0000539152" "00017518" "30" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Gly972=)" "" "0000539153" "00017518" "50" "2989" "0" "2989" "0" "c.2989G>A" "r.(?)" "p.(Val997Met)" "" "0000539154" "00017518" "30" "2991" "0" "2991" "0" "c.2991G>A" "r.(?)" "p.(Val997=)" "" "0000539155" "00017518" "50" "3076" "0" "3076" "0" "c.3076G>A" "r.(?)" "p.(Glu1026Lys)" "" "0000539156" "00017518" "30" "3109" "0" "3109" "0" "c.3109G>A" "r.(?)" "p.(Val1037Ile)" "" "0000539157" "00017518" "50" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "" "0000539158" "00017518" "30" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "" "0000539159" "00017518" "30" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "" "0000539160" "00017518" "30" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "" "0000539161" "00017518" "30" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Pro1039Ser)" "" "0000539162" "00017518" "10" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Ser1048=)" "" "0000539163" "00017518" "30" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000539164" "00017518" "10" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000539165" "00017518" "30" "3177" "0" "3177" "0" "c.3177A>G" "r.(?)" "p.(Pro1059=)" "" "0000539166" "00017518" "30" "3217" "0" "3217" "0" "c.3217G>A" "r.(?)" "p.(Glu1073Lys)" "" "0000539167" "00017518" "10" "3265" "0" "3265" "0" "c.3265C>G" "r.(?)" "p.(Pro1089Ala)" "" "0000539168" "00017518" "30" "3265" "0" "3265" "0" "c.3265C>G" "r.(?)" "p.(Pro1089Ala)" "" "0000539169" "00017518" "10" "3265" "0" "3265" "0" "c.3265C>G" "r.(?)" "p.(Pro1089Ala)" "" "0000539170" "00017518" "30" "3271" "0" "3271" "0" "c.3271G>A" "r.(?)" "p.(Glu1091Lys)" "" "0000539171" "00017518" "10" "3315" "0" "3315" "0" "c.3315G>A" "r.(?)" "p.(Pro1105=)" "" "0000539172" "00017518" "30" "3315" "0" "3315" "0" "c.3315G>A" "r.(?)" "p.(Pro1105=)" "" "0000539173" "00017518" "10" "3317" "-20" "3317" "-20" "c.3317-20C>T" "r.(=)" "p.(=)" "" "0000539174" "00017518" "30" "3317" "-20" "3317" "-20" "c.3317-20C>T" "r.(=)" "p.(=)" "" "0000539175" "00017518" "30" "3317" "-12" "3317" "-12" "c.3317-12C>T" "r.(=)" "p.(=)" "" "0000539176" "00017518" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Val1111Met)" "" "0000539178" "00017518" "10" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Glu1125Lys)" "" "0000539179" "00017518" "10" "3378" "0" "3378" "0" "c.3378G>A" "r.(?)" "p.(Val1126=)" "" "0000539180" "00017518" "30" "3378" "0" "3378" "0" "c.3378G>A" "r.(?)" "p.(Val1126=)" "" "0000539181" "00017518" "50" "3395" "0" "3395" "0" "c.3395T>G" "r.(?)" "p.(Leu1132Arg)" "" "0000539182" "00017518" "50" "3571" "0" "3571" "0" "c.3571C>A" "r.(?)" "p.(Gln1191Lys)" "" "0000539183" "00017518" "50" "3578" "0" "3578" "0" "c.3578A>G" "r.(?)" "p.(Tyr1193Cys)" "" "0000539184" "00017518" "30" "3655" "0" "3655" "0" "c.3655G>A" "r.(?)" "p.(Val1219Met)" "" "0000539185" "00017518" "10" "3667" "0" "3667" "0" "c.3667G>C" "r.(?)" "p.(Glu1223Gln)" "" "0000612257" "00017518" "50" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Gly28Ser)" "" "0000612258" "00017518" "50" "104" "0" "104" "0" "c.104C>A" "r.(?)" "p.(Pro35His)" "" "0000612259" "00017518" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Ser36Cys)" "" "0000612260" "00017518" "10" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Pro44Gln)" "" "0000612261" "00017518" "30" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(Pro46=)" "" "0000612262" "00017518" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Gln49=)" "" "0000612263" "00017518" "50" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Pro54Ser)" "" "0000612264" "00017518" "10" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Pro54Arg)" "" "0000612265" "00017518" "50" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Ala87Ser)" "" "0000612266" "00017518" "50" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "" "0000612267" "00017518" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Thr118Ala)" "" "0000612268" "00017518" "30" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Ser)" "" "0000612269" "00017518" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Met184Val)" "" "0000612270" "00017518" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ala222Val)" "" "0000612271" "00017518" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000612272" "00017518" "30" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ser258Leu)" "" "0000612273" "00017518" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Ser258=)" "" "0000612277" "00017518" "30" "1430" "-20" "1430" "-19" "c.1430-20_1430-19del" "r.(=)" "p.(=)" "" "0000612278" "00017518" "30" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Phe510Ser)" "" "0000612279" "00017518" "50" "1703" "0" "1703" "0" "c.1703A>G" "r.(?)" "p.(Gln568Arg)" "" "0000612280" "00017518" "50" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Arg623Gln)" "" "0000612281" "00017518" "10" "1880" "23" "1880" "23" "c.1880+23T>C" "r.(=)" "p.(=)" "" "0000612282" "00017518" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634Gln)" "" "0000612283" "00017518" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634Gln)" "" "0000612284" "00017518" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634Gln)" "" "0000612286" "00017518" "30" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Thr653Ile)" "" "0000612287" "00017518" "70" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Arg688Ter)" "" "0000612288" "00017518" "50" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716Gln)" "" "0000612289" "00017518" "30" "2565" "0" "2570" "0" "c.2565_2570del" "r.(?)" "p.(Gln856_Glu857del)" "" "0000612290" "00017518" "10" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000612291" "00017518" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Lys963Glu)" "" "0000612292" "00017518" "30" "2989" "0" "2989" "0" "c.2989G>A" "r.(?)" "p.(Val997Met)" "" "0000612293" "00017518" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Tyr1110=)" "" "0000612294" "00017518" "30" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Phe1154=)" "" "0000622328" "00017518" "30" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Leu133=)" "" "0000622329" "00017518" "50" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Gly208Ser)" "" "0000622330" "00017518" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ala222Val)" "" "0000622331" "00017518" "50" "1051" "0" "1051" "0" "c.1051G>C" "r.(?)" "p.(Asp351His)" "" "0000622332" "00017518" "30" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Glu353Lys)" "" "0000622333" "00017518" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000622334" "00017518" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(His659Tyr)" "" "0000622335" "00017518" "50" "2017" "0" "2017" "0" "c.2017C>T" "r.(?)" "p.(Arg673Trp)" "" "0000647846" "00017518" "70" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000647847" "00017518" "50" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000647848" "00017518" "30" "4070" "0" "4070" "0" "c.*386T>C" "r.(=)" "p.(=)" "" "0000656415" "00017518" "70" "1880" "1" "1880" "1" "c.1880+1G>A" "r.spl?" "p.?" "" "0000656416" "00017518" "90" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000656417" "00017518" "30" "1969" "0" "1969" "0" "c.1969T>A" "r.(?)" "p.(Ser657Thr)" "" "0000656418" "00017518" "30" "1970" "0" "1970" "0" "c.1970C>G" "r.(?)" "p.(Ser657Cys)" "" "0000656419" "00017518" "50" "2023" "0" "2023" "0" "c.2023T>A" "r.(?)" "p.(Ser675Thr)" "" "0000656420" "00017518" "50" "2177" "0" "2177" "0" "c.2177G>A" "r.(?)" "p.(Arg726Gln)" "" "0000656421" "00017518" "50" "2450" "0" "2450" "0" "c.2450G>T" "r.(?)" "p.(Gly817Val)" "" "0000656422" "00017518" "50" "2754" "0" "2756" "0" "c.2754_2756del" "r.(?)" "p.(Glu918del)" "" "0000656423" "00017518" "70" "3236" "0" "3236" "0" "c.3236del" "r.(?)" "p.(Gly1079AlafsTer25)" "" "0000678768" "00017518" "50" "141" "0" "161" "0" "c.141_161del" "r.(?)" "p.(Pro48_Pro54del)" "" "0000678769" "00017518" "50" "299" "0" "299" "0" "c.299T>G" "r.(?)" "p.(Leu100Arg)" "" "0000678770" "00017518" "50" "846" "0" "853" "0" "c.846_853del" "r.(?)" "p.(Tyr283GlnfsTer14)" "" "0000678771" "00017518" "10" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Arg)" "" "0000678772" "00017518" "30" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Ala387=)" "" "0000678773" "00017518" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000678774" "00017518" "30" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Leu482Phe)" "" "0000678775" "00017518" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(His659Tyr)" "" "0000678776" "00017518" "30" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000678777" "00017518" "30" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Gly972=)" "" "0000678778" "00017518" "50" "3578" "0" "3578" "0" "c.3578A>G" "r.(?)" "p.(Tyr1193Cys)" "" "0000678779" "00017518" "50" "3616" "0" "3616" "0" "c.3616G>A" "r.(?)" "p.(Glu1206Lys)" "" "0000690640" "00017518" "10" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Ile)" "" "0000690641" "00017518" "30" "858" "0" "858" "0" "c.858C>T" "r.(?)" "p.(Asn286=)" "" "0000690642" "00017518" "30" "1275" "8" "1275" "8" "c.1275+8G>T" "r.(=)" "p.(=)" "" "0000690643" "00017518" "50" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Arg623Gln)" "" "0000690644" "00017518" "30" "2196" "0" "2196" "0" "c.2196C>T" "r.(?)" "p.(Pro732=)" "" "0000690645" "00017518" "50" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ala1011Gly)" "" "0000701658" "00017518" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Val487Met)" "" "0000701659" "00017518" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Val545Ile)" "" "0000701660" "00017518" "50" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000701661" "00017518" "90" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "" "0000701662" "00017518" "50" "2017" "0" "2017" "0" "c.2017C>T" "r.(?)" "p.(Arg673Trp)" "" "0000701663" "00017518" "50" "2108" "0" "2108" "0" "c.2108G>A" "r.(?)" "p.(Arg703Lys)" "" "0000701664" "00017518" "50" "2728" "0" "2728" "0" "c.2728A>C" "r.(?)" "p.(Thr910Pro)" "" "0000701665" "00017518" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Glu913Lys)" "" "0000701666" "00017518" "50" "3022" "0" "3022" "0" "c.3022C>T" "r.(?)" "p.(Arg1008Trp)" "" "0000704344" "00017518" "50" "564" "0" "564" "0" "c.564C>A" "r.(?)" "p.(Asn188Lys)" "" "0000714887" "00017518" "50" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(Asn72Ile)" "" "0000722667" "00017518" "30" "529" "0" "529" "0" "c.529A>T" "r.(?)" "p.(Thr177Ser)" "" "0000722668" "00017518" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Glu230Lys)" "" "0000722669" "00017518" "70" "846" "0" "853" "0" "c.846_853del" "r.(?)" "p.(Tyr283GlnfsTer14)" "" "0000722670" "00017518" "50" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380Gln)" "" "0000722671" "00017518" "30" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000722672" "00017518" "30" "1880" "4" "1880" "6" "c.1880+4_1880+6dup" "r.spl?" "p.?" "" "0000722673" "00017518" "10" "1880" "4" "1880" "6" "c.1880+4_1880+6dup" "r.spl?" "p.?" "" "0000722674" "00017518" "50" "1881" "0" "1881" "0" "c.1881A>G" "r.(?)" "p.(Arg627=)" "" "0000722675" "00017518" "30" "1922" "0" "1922" "0" "c.1922G>A" "r.(?)" "p.(Arg641Gln)" "" "0000722676" "00017518" "30" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000722677" "00017518" "30" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000722678" "00017518" "50" "2248" "0" "2248" "0" "c.2248T>C" "r.(?)" "p.(Ser750Pro)" "" "0000722679" "00017518" "50" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000722680" "00017518" "50" "2713" "0" "2713" "0" "c.2713A>G" "r.(?)" "p.(Met905Val)" "" "0000722681" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000722682" "00017518" "30" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Gly972=)" "" "0000722683" "00017518" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Gly1160Ser)" "" "0000722684" "00017518" "50" "3550" "0" "3550" "0" "c.3550G>A" "r.(?)" "p.(Ala1184Thr)" "" "0000722685" "00017518" "30" "3574" "-6" "3574" "-6" "c.3574-6C>G" "r.(=)" "p.(=)" "" "0000790042" "00017518" "90" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000804287" "00017518" "30" "146" "0" "147" "0" "c.146_147del" "r.(?)" "p.(Gln49ProfsTer29)" "" "0000804288" "00017518" "50" "468" "0" "470" "0" "c.468_470del" "r.(?)" "p.(Ala158del)" "" "0000804289" "00017518" "30" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Leu311=)" "" "0000804290" "00017518" "50" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Val606Met)" "" "0000804291" "00017518" "90" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000804292" "00017518" "90" "1901" "0" "1901" "0" "c.1901G>C" "r.(?)" "p.(Arg634Pro)" "" "0000804293" "00017518" "50" "2116" "0" "2116" "0" "c.2116C>A" "r.(?)" "p.(Pro706Thr)" "" "0000804294" "00017518" "50" "2282" "0" "2282" "0" "c.2282G>A" "r.(?)" "p.(Arg761Gln)" "" "0000804295" "00017518" "30" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Ala818Ser)" "" "0000804296" "00017518" "50" "2754" "0" "2756" "0" "c.2754_2756del" "r.(?)" "p.(Glu918del)" "" "0000804297" "00017518" "50" "3262" "0" "3262" "0" "c.3262C>G" "r.(?)" "p.(Pro1088Ala)" "" "0000804298" "00017518" "50" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Ser1115Phe)" "" "0000804299" "00017518" "70" "3377" "0" "3378" "0" "c.3377_3378del" "r.(?)" "p.(Val1126Glyfs*19)" "" "0000804300" "00017518" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Gly1160Ser)" "" "0000804301" "00017518" "30" "3648" "0" "3648" "0" "c.3648C>T" "r.(?)" "p.(Ser1216=)" "" "0000852380" "00017518" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Pro38=)" "" "0000852381" "00017518" "30" "128" "0" "130" "0" "c.128_130dup" "r.(?)" "p.(Gln43dup)" "" "0000852382" "00017518" "30" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Pro44Gln)" "" "0000852383" "00017518" "50" "141" "0" "161" "0" "c.141_161del" "r.(?)" "p.(Pro48_Pro54del)" "" "0000852384" "00017518" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000852385" "00017518" "50" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Leu100Phe)" "" "0000852386" "00017518" "50" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Arg102Gln)" "" "0000852387" "00017518" "70" "348" "0" "348" "0" "c.348del" "r.(?)" "p.(Ala117Profs*4)" "" "0000852388" "00017518" "10" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Pro140=)" "" "0000852389" "00017518" "30" "522" "0" "522" "0" "c.522C>G" "r.(?)" "p.(Pro174=)" "" "0000852390" "00017518" "30" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Gly179Asp)" "" "0000852391" "00017518" "50" "544" "0" "544" "0" "c.544C>A" "r.(?)" "p.(Pro182Thr)" "" "0000852392" "00017518" "50" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Thr219Ser)" "" "0000852393" "00017518" "50" "1124" "0" "1124" "0" "c.1124T>C" "r.(?)" "p.(Phe375Ser)" "" "0000852394" "00017518" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Asp401Asn)" "" "0000852395" "00017518" "30" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Ala462Thr)" "" "0000852396" "00017518" "50" "1494" "0" "1494" "0" "c.1494C>A" "r.(?)" "p.(Ser498Arg)" "" "0000852397" "00017518" "30" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Phe510Ser)" "" "0000852398" "00017518" "30" "1953" "0" "1953" "0" "c.1953C>T" "r.(?)" "p.(Ser651=)" "" "0000852399" "00017518" "30" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000852400" "00017518" "30" "2154" "0" "2154" "0" "c.2154G>C" "r.(?)" "p.(Leu718=)" "" "0000852401" "00017518" "30" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Arg734Gln)" "" "0000852402" "00017518" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Gly758Ser)" "" "0000852403" "00017518" "30" "2448" "0" "2448" "0" "c.2448G>C" "r.(?)" "p.(Glu816Asp)" "" "0000852404" "00017518" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Glu898Lys)" "" "0000852405" "00017518" "30" "3059" "0" "3059" "0" "c.3059A>T" "r.(?)" "p.(Glu1020Val)" "" "0000852406" "00017518" "50" "3169" "0" "3169" "0" "c.3169C>T" "r.(?)" "p.(Arg1057Trp)" "" "0000852407" "00017518" "30" "3189" "0" "3189" "0" "c.3189G>A" "r.(?)" "p.(Val1063=)" "" "0000852408" "00017518" "30" "3516" "0" "3516" "0" "c.3516C>T" "r.(?)" "p.(Ser1172=)" "" "0000852409" "00017518" "10" "3573" "16" "3573" "16" "c.3573+16C>T" "r.(=)" "p.(=)" "" "0000852410" "00017518" "50" "3584" "0" "3584" "0" "c.3584C>A" "r.(?)" "p.(Ser1195Tyr)" "" "0000852411" "00017518" "50" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "" "0000861821" "00017518" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" "" "0000861822" "00017518" "30" "1356" "0" "1356" "0" "c.1356A>T" "r.(?)" "p.(Ile452=)" "" "0000861823" "00017518" "50" "1784" "0" "1784" "0" "c.1784A>G" "r.(?)" "p.(Lys595Arg)" "" "0000861824" "00017518" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Thr653Ile)" "" "0000861825" "00017518" "50" "2547" "0" "2547" "0" "c.2547T>A" "r.(?)" "p.(Asn849Lys)" "" "0000861826" "00017518" "50" "2565" "0" "2570" "0" "c.2565_2570del" "r.(?)" "p.(Gln856_Glu857del)" "" "0000861827" "00017518" "50" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Met)" "" "0000861828" "00017518" "30" "3513" "0" "3513" "0" "c.3513G>A" "r.(?)" "p.(Thr1171=)" "" "0000861829" "00017518" "10" "3648" "0" "3648" "0" "c.3648C>T" "r.(?)" "p.(Ser1216=)" "" "0000861830" "00017518" "30" "3648" "0" "3648" "0" "c.3648C>T" "r.(?)" "p.(Ser1216=)" "" "0000878861" "00017518" "70" "3636" "0" "3636" "0" "c.3636del" "r.(?)" "p.(Arg1212Serfs*36)" "14" "0000878866" "00017518" "70" "2551" "-3" "2551" "-3" "c.2551-3A>G" "r.spl?" "p.?" "9" "0000888986" "00017518" "30" "-3" "0" "-3" "0" "c.-3C>T" "r.(?)" "p.(=)" "" "0000888987" "00017518" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49Ter)" "" "0000888989" "00017518" "30" "150" "0" "150" "0" "c.150A>T" "r.(?)" "p.(Pro50=)" "" "0000888990" "00017518" "30" "150" "0" "150" "0" "c.150A>T" "r.(?)" "p.(Pro50=)" "" "0000888991" "00017518" "10" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000888992" "00017518" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000888993" "00017518" "50" "247" "0" "247" "0" "c.247C>A" "r.(?)" "p.(Leu83Ile)" "" "0000888994" "00017518" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(His101Tyr)" "" "0000888995" "00017518" "50" "359" "0" "359" "0" "c.359del" "r.(?)" "p.(Leu120Argfs*18)" "" "0000888996" "00017518" "50" "544" "0" "544" "0" "c.544C>A" "r.(?)" "p.(Pro182Thr)" "" "0000888997" "00017518" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Tyr283=)" "" "0000888998" "00017518" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "" "0000888999" "00017518" "30" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Leu311=)" "" "0000889000" "00017518" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Pro355Ser)" "" "0000889001" "00017518" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Pro355Ser)" "" "0000889002" "00017518" "50" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Glu384Lys)" "" "0000889003" "00017518" "50" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Ala437Thr)" "" "0000889004" "00017518" "30" "1430" "-20" "1430" "-19" "c.1430-20_1430-19del" "r.(=)" "p.(=)" "" "0000889005" "00017518" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Val545Ile)" "" "0000889006" "00017518" "30" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Gly583Asp)" "" "0000889007" "00017518" "50" "1766" "0" "1766" "0" "c.1766G>T" "r.(?)" "p.(Arg589Leu)" "" "0000889008" "00017518" "50" "1805" "0" "1805" "0" "c.1805C>T" "r.(?)" "p.(Pro602Leu)" "" "0000889009" "00017518" "90" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000889010" "00017518" "30" "2116" "0" "2116" "0" "c.2116C>A" "r.(?)" "p.(Pro706Thr)" "" "0000889011" "00017518" "50" "2193" "0" "2193" "0" "c.2193G>T" "r.(?)" "p.(Arg731Ser)" "" "0000889012" "00017518" "50" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" "" "0000889013" "00017518" "10" "2303" "0" "2303" "0" "c.2303G>T" "r.(?)" "p.(Trp768Leu)" "" "0000889014" "00017518" "30" "2393" "0" "2393" "0" "c.2393C>T" "r.(?)" "p.(Pro798Leu)" "" "0000889015" "00017518" "30" "2405" "0" "2405" "0" "c.2405G>T" "r.(?)" "p.(Gly802Val)" "" "0000889016" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000889017" "00017518" "50" "3242" "0" "3242" "0" "c.3242C>T" "r.(?)" "p.(Pro1081Leu)" "" "0000889018" "00017518" "10" "3452" "-10" "3452" "-10" "c.3452-10C>T" "r.(=)" "p.(=)" "" "0000889019" "00017518" "50" "3571" "0" "3571" "0" "c.3571C>A" "r.(?)" "p.(Gln1191Lys)" "" "0000913210" "00017518" "30" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Leu94=)" "" "0000913211" "00017518" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Thr118Ala)" "" "0000913212" "00017518" "10" "1059" "0" "1059" "0" "c.1059G>A" "r.(?)" "p.(Glu353=)" "" "0000913213" "00017518" "10" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Leu460=)" "" "0000913214" "00017518" "30" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Ala605Thr)" "" "0000913215" "00017518" "10" "1881" "-3" "1881" "-3" "c.1881-3C>T" "r.spl?" "p.?" "" "0000913216" "00017518" "50" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Pro662Leu)" "" "0000913217" "00017518" "50" "2228" "0" "2228" "0" "c.2228C>A" "r.(?)" "p.(Pro743His)" "" "0000913218" "00017518" "30" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0000913219" "00017518" "50" "3076" "0" "3076" "0" "c.3076G>T" "r.(?)" "p.(Glu1026*)" "" "0000913220" "00017518" "10" "3177" "0" "3177" "0" "c.3177A>G" "r.(?)" "p.(Pro1059=)" "" "0000913221" "00017518" "30" "3317" "-29" "3317" "-22" "c.3317-29_3317-22del" "r.(=)" "p.(=)" "" "0000913222" "00017518" "50" "3649" "0" "3649" "0" "c.3649G>A" "r.(?)" "p.(Gly1217Arg)" "" "0000925108" "00017518" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Leu)" "" "0000925109" "00017518" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "" "0000925110" "00017518" "50" "776" "0" "776" "0" "c.776G>T" "r.(?)" "p.(Gly259Val)" "" "0000925111" "00017518" "50" "1361" "0" "1361" "0" "c.1361G>T" "r.(?)" "p.(Gly454Val)" "" "0000925112" "00017518" "10" "1527" "18" "1527" "18" "c.1527+18T>G" "r.(=)" "p.(=)" "" "0000925113" "00017518" "10" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Asp534=)" "" "0000925114" "00017518" "50" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Arg623Trp)" "" "0000925115" "00017518" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Cys)" "" "0000925116" "00017518" "50" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Met)" "" "0000925117" "00017518" "30" "3316" "7" "3316" "7" "c.3316+7A>G" "r.(=)" "p.(=)" "" "0000925118" "00017518" "50" "3545" "0" "3545" "0" "c.3545G>A" "r.(?)" "p.(Arg1182His)" "" "0000929639" "00017518" "50" "83" "0" "83" "0" "c.83G>T" "r.(?)" "p.(Gly28Val)" "" "0000929640" "00017518" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Pro35Leu)" "" "0000929641" "00017518" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Gly583Asp)" "" "0000929642" "00017518" "10" "2655" "10" "2655" "10" "c.2655+10del" "r.(=)" "p.(=)" "" "0000929643" "00017518" "50" "2761" "0" "2761" "0" "c.2761A>T" "r.(?)" "p.(Ile921Phe)" "" "0000929644" "00017518" "50" "3047" "0" "3047" "0" "c.3047G>A" "r.(?)" "p.(Gly1016Asp)" "" "0000929645" "00017518" "70" "3377" "0" "3378" "0" "c.3377_3378del" "r.(?)" "p.(Val1126Glyfs*19)" "" "0000949340" "00017518" "50" "710" "0" "710" "0" "c.710G>T" "r.(?)" "p.(Gly237Val)" "" "0000949341" "00017518" "30" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Pro738Leu)" "" "0000949342" "00017518" "50" "2347" "0" "2347" "0" "c.2347A>G" "r.(?)" "p.(Arg783Gly)" "" "0000949343" "00017518" "50" "2565" "0" "2570" "0" "c.2565_2570del" "r.(?)" "p.(Gln856_Glu857del)" "" "0000949344" "00017518" "10" "3047" "0" "3047" "0" "c.3047G>C" "r.(?)" "p.(Gly1016Ala)" "" "0000949345" "00017518" "30" "3574" "-6" "3574" "-6" "c.3574-6C>G" "r.(=)" "p.(=)" "" "0000957749" "00017518" "90" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "" "0000957758" "00017518" "50" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000957763" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000957770" "00017518" "50" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Arg688Ter)" "" "0000957802" "00017518" "50" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Arg688Ter)" "" "0000957839" "00017518" "70" "3416" "0" "3416" "0" "c.3416C>T" "r.(?)" "p.(Pro1139Leu)" "" "0000957901" "00017518" "50" "3584" "0" "3584" "0" "c.3584C>A" "r.(?)" "p.(Ser1195Tyr)" "" "0000957927" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000957928" "00017518" "50" "192" "-3" "192" "-3" "c.192-3C>T" "r.spl?" "p.?" "" "0000957931" "00017518" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000965585" "00017518" "30" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Arg)" "" "0000965586" "00017518" "30" "1214" "0" "1214" "0" "c.1214T>G" "r.(?)" "p.(Val405Gly)" "" "0000965587" "00017518" "30" "1969" "0" "1969" "0" "c.1969T>A" "r.(?)" "p.(Ser657Thr)" "" "0000965588" "00017518" "30" "1970" "0" "1970" "0" "c.1970C>G" "r.(?)" "p.(Ser657Cys)" "" "0000965590" "00017518" "50" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Glu763Lys)" "" "0000965591" "00017518" "50" "2351" "0" "2351" "0" "c.2351G>T" "r.(?)" "p.(Arg784Met)" "" "0000965592" "00017518" "50" "3157" "0" "3157" "0" "c.3157G>T" "r.(?)" "p.(Glu1053*)" "" "0000965593" "00017518" "50" "3268" "0" "3268" "0" "c.3268A>T" "r.(?)" "p.(Ile1090Phe)" "" "0000965594" "00017518" "50" "3512" "0" "3512" "0" "c.3512C>A" "r.(?)" "p.(Thr1171Lys)" "" "0000965595" "00017518" "50" "3512" "0" "3512" "0" "c.3512C>T" "r.(?)" "p.(Thr1171Met)" "" "0000978886" "00017518" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49Ter)" "" "0000978887" "00017518" "50" "710" "0" "710" "0" "c.710G>T" "r.(?)" "p.(Gly237Val)" "" "0000978888" "00017518" "50" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380Gln)" "" "0000978889" "00017518" "50" "1379" "0" "1379" "0" "c.1379T>C" "r.(?)" "p.(Leu460Ser)" "" "0000978890" "00017518" "50" "1591" "0" "1591" "0" "c.1591A>G" "r.(?)" "p.(Thr531Ala)" "" "0000978891" "00017518" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Thr554Ile)" "" "0000978892" "00017518" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Tyr628Cys)" "" "0000978893" "00017518" "30" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Arg1008Gln)" "" "0000978894" "00017518" "50" "3636" "0" "3636" "0" "c.3636del" "r.(?)" "p.(Arg1212Serfs*36)" "" "0000985291" "00017518" "30" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(Ser990=)" "" "0000989261" "00017518" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "" "0000989663" "00017518" "50" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Arg716Trp)" "" "0000989754" "00017518" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Trp)" "" "0000989755" "00017518" "50" "3584" "0" "3584" "0" "c.3584C>A" "r.(?)" "p.(Ser1195Tyr)" "" "0000989756" "00017518" "50" "3616" "0" "3616" "0" "c.3616G>A" "r.(?)" "p.(Glu1206Lys)" "" "0000989757" "00017518" "50" "3636" "0" "3636" "0" "c.3636del" "r.(?)" "p.(Arg1212SerfsTer36)" "" "0000989802" "00017518" "50" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000998101" "00017518" "50" "37" "0" "37" "0" "c.37C>A" "r.(?)" "p.(Pro13Thr)" "" "0000998102" "00017518" "50" "127" "0" "127" "0" "c.127C>A" "r.(?)" "p.(Gln43Lys)" "" "0000998103" "00017518" "50" "132" "0" "149" "0" "c.132_149dup" "r.(?)" "p.(Pro50_Gln55dup)" "" "0000998104" "00017518" "30" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000998105" "00017518" "30" "1527" "9" "1527" "9" "c.1527+9G>A" "r.(=)" "p.(=)" "" "0000998106" "00017518" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "" "0000998107" "00017518" "50" "1793" "0" "1793" "0" "c.1793A>C" "r.(?)" "p.(Gln598Pro)" "" "0000998108" "00017518" "30" "1881" "-3" "1881" "-3" "c.1881-3C>T" "r.spl?" "p.?" "" "0000998109" "00017518" "90" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634Trp)" "" "0000998110" "00017518" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Trp)" "" "0000998111" "00017518" "30" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Val969Ile)" "" "0000998112" "00017518" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Gly1160Ser)" "" "0000998113" "00017518" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(=)" "" "0000998114" "00017518" "30" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "" "0001014586" "00017518" "50" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Leu68Pro)" "" "0001014587" "00017518" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Thr118Ala)" "" "0001014588" "00017518" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Thr118Ala)" "" "0001014589" "00017518" "50" "2227" "0" "2227" "0" "c.2227C>A" "r.(?)" "p.(Pro743Thr)" "" "0001014590" "00017518" "50" "2393" "0" "2393" "0" "c.2393C>T" "r.(?)" "p.(Pro798Leu)" "" "0001025707" "00017518" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0001025708" "00017518" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Ala691Val)" "" "0001025709" "00017518" "50" "2153" "0" "2153" "0" "c.2153T>C" "r.(?)" "p.(Leu718Pro)" "" "0001025710" "00017518" "30" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Arg734Gln)" "" "0001025711" "00017518" "50" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0001025712" "00017518" "50" "3026" "0" "3026" "0" "c.3026A>G" "r.(?)" "p.(Lys1009Arg)" "" "0001025713" "00017518" "30" "3451" "10" "3451" "10" "c.3451+10A>C" "r.(=)" "p.(=)" "" "0001037717" "00017518" "30" "141" "0" "143" "0" "c.141_143dup" "r.(?)" "p.(Pro48dup)" "" "0001037718" "00017518" "10" "1880" "4" "1880" "6" "c.1880+4_1880+6dup" "r.spl?" "p.?" "" "0001037719" "00017518" "50" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Val969Ile)" "" "0001037720" "00017518" "50" "3317" "-11" "3317" "-11" "c.3317-11A>C" "r.(=)" "p.(=)" "" "0001037721" "00017518" "50" "3418" "0" "3418" "0" "c.3418G>A" "r.(?)" "p.(Glu1140Lys)" "" "0001045160" "00017518" "70" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634Gln)" "" "0001046220" "00017518" "30" "1994" "0" "1994" "0" "c.1994C>G" "r.(?)" "p.(Ser665Cys)" "" "0001046961" "00017518" "50" "1896" "0" "1896" "0" "c.1896G>C" "r.(?)" "p.(Arg632Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{variantid}}" "0000016313" "0000036108" "0000064207" "0000095207" "0000064231" "0000095298" "0000064236" "0000095319" "0000064243" "0000095340" "0000064257" "0000095407" "0000064261" "0000095421" "0000064267" "0000095440" "0000064267" "0000095441" "0000064285" "0000095495" "0000064286" "0000095499" "0000064293" "0000095525" "0000064298" "0000095547" "0000064305" "0000095574" "0000064326" "0000095639" "0000064336" "0000095668" "0000064340" "0000095683" "0000064356" "0000095735" "0000064357" "0000095737" "0000064849" "0000096498" "0000064863" "0000096516" "0000128838" "0000217972" "0000129250" "0000218396" "0000129292" "0000218451" "0000164762" "0000368361" "0000220247" "0000455428" "0000229245" "0000470394" "0000229251" "0000470405" "0000291157" "0000647846" "0000291158" "0000647847" "0000291159" "0000647848" "0000319052" "0000701658" "0000319053" "0000701659" "0000319054" "0000701660" "0000319055" "0000701661" "0000319056" "0000701662" "0000319057" "0000701663" "0000319058" "0000701664" "0000319059" "0000701665" "0000319060" "0000701666" "0000321486" "0000704344" "0000330316" "0000714887" "0000377637" "0000790042" "0000418946" "0000878861" "0000418950" "0000878866" "0000448342" "0000957749" "0000448346" "0000957901" "0000448351" "0000957758" "0000448356" "0000957763" "0000448363" "0000957770" "0000448371" "0000957927" "0000448379" "0000957928" "0000448395" "0000957802" "0000448408" "0000957931" "0000448432" "0000957839" "0000454741" "0000989802" "0000454762" "0000989663" "0000454853" "0000989754" "0000454854" "0000989755" "0000454855" "0000989756" "0000454856" "0000989757" "0000467346" "0001045160"