### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CALR3) # 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}}" "CALR3" "calreticulin 3" "19" "p13.11" "unknown" "LRG_422" "UD_136086026714" "" "https://www.LOVD.nl/CALR3" "" "1" "20407" "125972" "611414" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CALR3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-23 12:10:35" "00000" "2025-05-05 21:14:00" ## 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}}" "00004299" "CALR3" "calreticulin 3" "001" "NM_145046.4" "" "NP_659483.2" "" "" "" "-63" "1229" "1155" "16607003" "16589868" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "03478" "CMH19" "cardiomyopathy, hypertrophic, familial, type 19 (CMH-19)" "" "613875" "" "" "" "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}}" "CALR3" "03478" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00128473" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "258" "00163857" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163858" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163859" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "-" "Netherlands" "" "" "yes" "" "" "" "00163860" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163861" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "F" "" "Netherlands" "" "" "yes" "septal myectomy" "Asian" "" "00163862" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163863" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163864" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163865" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163866" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163867" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "F" "" "Netherlands" "58y" "" "yes" "" "North African" "" "00163868" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "" "yes" "implantable cardiac defibrillator" "" "" "00163869" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163870" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163871" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163872" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163873" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163874" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163875" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163876" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "4-generation family, 4 affected (2M, 2F), 3 unaffected (3F)" "F" "" "Netherlands" "" "" "yes" "" "" "" "00163877" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163878" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163879" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 2 affected (2M), 8 unaffected" "?" "" "Netherlands" "" "" "yes" "DDD pacemaker" "white" "" "00163880" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (M), 1 unaffected (F)" "M" "" "Netherlands" "" "" "yes" "" "" "" "00163881" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "4-generation family, 8 affecteds (7M, 1F), 6 unaffected (3M, 3F)" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00163882" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 1 affected (F), 2 unaffected (M, F)" "F" "" "Netherlands" "" "" "yes" "septal myectomy" "white" "" "00163883" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (M), 1 unaffected (F)" "M" "" "Netherlands" "" "" "yes" "alcohol septal ablation" "white" "" "00163884" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (M), 1 unaffected (M)" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00163885" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 2 affected siblings (2F), 3 unaffected (2M, 1F)" "F" "" "Netherlands" "00y06m" "" "yes" "" "white" "" "00163886" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "F" "" "Netherlands" "" "" "yes" "" "white" "" "00163887" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "" "yes" "left ventricular assist device" "white" "" "00163888" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "4-generation family, 8 affecteds (7M, 1F), 6 unaffected (3M, 3F)" "M" "" "Netherlands" "" "" "yes" "implantable cardiac defibrillator" "white" "" "00163889" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00163890" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 2 affecteds (2M), 3 unaffected (2M, 1F)" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00163891" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (F), 1 borderline (1F)" "F" "" "Netherlands" "" "" "yes" "" "white" "" "00163892" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00163893" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 1 affected (M), 1 unaffected (F)" "M" "" "Netherlands" "" "0" "yes" "" "white" "" "00163894" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "0" "yes" "" "white" "" "00163895" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "sudden death son 20y" "F" "" "Netherlands" "" "0" "yes" "" "white" "" "00163896" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "0" "yes" "implantable cardiac defibrillator" "white" "" "00163897" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "0" "yes" "" "white" "" "00163898" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "0" "yes" "" "" "" "00163899" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "0" "yes" "implantable cardiac defibrillator" "Sub-Saharan African" "" "00163900" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163901" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163902" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163903" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "F" "" "Netherlands" "" "" "yes" "" "" "" "00163904" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" "" "00163919" "" "" "" "1" "" "00006" "{PMID:Chiu 2007:17655857}" "3-generation family, 1 affected; screen cohort 252 unrelated patients" "M" "no" "Australia" "" "0" "" "" "" "17655857-FamALPatII1" "00163920" "" "" "" "3" "" "00006" "{PMID:Chiu 2007:17655857}" "2-generation family, affected brothers/father; screen cohort 252 unrelated patients" "M" "no" "Australia" "" "0" "" "" "" "17655857-FamDPatII1" "00292060" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292061" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304647" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304648" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315504" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS112" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00128473" "00198" "00163857" "00352" "00163858" "00351" "00163859" "00351" "00163860" "00352" "00163861" "00351" "00163862" "00352" "00163863" "00352" "00163864" "00351" "00163865" "00351" "00163866" "00351" "00163867" "00352" "00163868" "00352" "00163869" "00352" "00163870" "00352" "00163871" "04172" "00163872" "00351" "00163873" "04172" "00163874" "04173" "00163875" "00352" "00163876" "00352" "00163877" "00352" "00163878" "00351" "00163879" "00351" "00163880" "04173" "00163881" "00351" "00163882" "00351" "00163883" "00351" "00163884" "00352" "00163885" "00352" "00163886" "00352" "00163887" "00351" "00163888" "00351" "00163889" "00351" "00163890" "00351" "00163891" "04173" "00163892" "00351" "00163893" "00351" "00163894" "00351" "00163895" "00352" "00163896" "00352" "00163897" "04172" "00163898" "00351" "00163899" "04172" "00163900" "00352" "00163901" "00351" "00163902" "00351" "00163903" "00352" "00163904" "00351" "00163919" "00351" "00163920" "00351" "00292060" "00198" "00292061" "00198" "00304647" "00198" "00304648" "00198" "00315504" "05166" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 03478, 04172, 04173, 05166 ## Count = 52 "{{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}}" "0000100695" "00198" "00128473" "02244" "Unknown" "0d" "" "" "0" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000128969" "00352" "00163857" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128970" "00351" "00163858" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128971" "00351" "00163859" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128972" "00352" "00163860" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128973" "00351" "00163861" "02438" "Isolated (sporadic)" "14y" "" "13y" "13y" "exertional dyspnea (HP:0002875)" "" "" "" "" "" "" "" "" "0000128974" "00352" "00163862" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128975" "00352" "00163863" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128976" "00351" "00163864" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128977" "00351" "00163865" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128978" "00351" "00163866" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128979" "00352" "00163867" "02438" "Familial, autosomal dominant" "55y" "mitral regurgitation (HP:0001653)" "" "50y" "" "" "" "" "" "" "" "" "" "0000128980" "00352" "00163868" "02438" "Isolated (sporadic)" "59y" "atrial flutter (HP:0004749)" "" "57y" "" "" "" "" "" "" "" "" "" "0000128981" "00352" "00163869" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128982" "00352" "00163870" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128983" "04172" "00163871" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128984" "00351" "00163872" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128985" "04172" "00163873" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128986" "04173" "00163874" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128987" "00352" "00163875" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128988" "00352" "00163876" "02438" "Familial, autosomal dominant" "" "" "" "75y" "" "" "" "" "" "" "" "" "" "0000128989" "00352" "00163877" "02438" "Unknown" "" "ventricular fibrillation (HP:0001663)" "" "" "" "" "" "" "" "" "" "" "" "0000128990" "00351" "00163878" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128991" "00351" "00163879" "02438" "Familial, autosomal dominant" "" "" "<57y" "<57y" "" "" "" "" "" "" "" "" "" "0000128992" "04173" "00163880" "02438" "Isolated (sporadic)" "05y" "Smith-Magenis syndrome (OMIM 182290)" "" "01y08m" "asymptomatic" "" "" "" "" "" "" "" "" "0000128993" "00351" "00163881" "02438" "Familial, autosomal dominant" "75y" "concentric hypertrophic cardiomyopathy (HP:0005157)" "" "63y" "" "" "" "" "" "" "" "" "" "0000128994" "00351" "00163882" "02438" "Isolated (sporadic)" "33y" "" "" "00y00m" "" "" "" "" "" "" "" "" "" "0000128995" "00351" "00163883" "02438" "Isolated (sporadic)" "72y" "atrial fibrillation (HP:0005110)" "" "58y" "" "" "" "" "" "" "" "" "" "0000128996" "00352" "00163884" "02438" "Isolated (sporadic)" "25y" "" "23y" "23y" "palpitations (HP:0001962)" "" "" "" "" "" "" "" "" "0000128997" "00352" "00163885" "02438" "Familial, autosomal recessive" "00y06m" "generalized myopathy" "" "00y00m" "" "" "" "" "" "" "" "" "" "0000128998" "00352" "00163886" "02438" "Isolated (sporadic)" "49y" "" "" "42y" "" "" "" "" "" "" "" "" "" "0000128999" "00351" "00163887" "02438" "Isolated (sporadic)" "51y" "" "" "50y" "" "" "" "" "" "" "" "" "" "0000129000" "00351" "00163888" "02438" "Familial, autosomal dominant" "57y" "" "" "44y" "" "" "" "" "" "" "" "" "" "0000129001" "00351" "00163889" "02438" "Isolated (sporadic)" "62y" "" "" "60y" "" "" "" "" "" "" "" "" "" "0000129002" "00351" "00163890" "02438" "Familial, autosomal dominant" "51y" "" "" "46y" "" "" "" "" "" "" "" "" "" "0000129003" "04173" "00163891" "02438" "Isolated (sporadic)" "76y" "" "" "76y" "" "" "" "" "" "" "" "" "" "0000129004" "00351" "00163892" "02438" "Isolated (sporadic)" "74y" "" "" "74y" "" "" "" "" "" "" "" "" "" "0000129005" "00351" "00163893" "02438" "Isolated (sporadic)" "62y" "paroxysmal ventricular tachycardia (HP:0004751)" "" "60y" "" "" "" "" "" "" "" "" "" "0000129006" "00351" "00163894" "02438" "Isolated (sporadic)" "" "paroxysmal ventricular tachycardia (HP:0004751)" "" "67y" "" "" "" "" "" "" "" "" "" "0000129007" "00352" "00163895" "02438" "Isolated (sporadic)" "" "left bundle branch block (HP:0011713)" "" "56y" "" "" "" "" "" "" "" "" "" "0000129008" "00352" "00163896" "02438" "Isolated (sporadic)" "" "ventricular tachycardia (HP:0004756)" "70y" "70y" "syncope (HP:0001279)" "" "" "" "" "" "" "" "" "0000129009" "04172" "00163897" "02438" "Isolated (sporadic)" "" "" "" "82y" "" "" "" "" "" "" "" "" "" "0000129010" "00351" "00163898" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129011" "04172" "00163899" "02438" "Isolated (sporadic)" "" "atrial fibrillation (HP:0005110), paroxysmal ventricular tachycardia (HP:0004751), first degree atrioventricular block (HP:0011705)" "" "53y" "" "" "" "" "" "" "" "" "" "0000129012" "00352" "00163900" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129013" "00351" "00163901" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129014" "00351" "00163902" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129015" "00352" "00163903" "02438" "Isolated (sporadic)" "" "left bundle branch block (HP:0011713)" "" "73y" "" "" "" "" "" "" "" "" "" "0000129016" "00351" "00163904" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129030" "00351" "00163919" "00006" "Familial, autosomal dominant" "41y" "severe exertional symptoms associated with left ventricular outflow tract obstruction (symptoms improved after transseptal alcohol ablation)" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000129031" "00351" "00163920" "00006" "Familial, autosomal dominant" "28y" "18y-ECG severe asymmetric septal hypertrophy" "" "18y" "" "" "" "" "" "" "" "familial hypertrophic cardiomyopathy" "" "0000322117" "05166" "00315504" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000129311" "00128473" "1" "02244" "02244" "2017-09-15 18:27:25" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000164721" "00163857" "1" "02438" "02438" "2018-04-22 15:20:06" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164722" "00163858" "1" "02438" "02438" "2018-04-22 15:26:57" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164723" "00163859" "1" "02438" "02438" "2018-04-22 15:40:14" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164724" "00163860" "1" "02438" "02438" "2018-04-22 15:54:39" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164725" "00163861" "1" "02438" "02438" "2018-04-22 15:59:04" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164726" "00163862" "1" "02438" "02438" "2018-04-22 16:21:45" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164727" "00163863" "1" "02438" "02438" "2018-04-22 16:25:09" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164728" "00163864" "1" "02438" "02438" "2018-04-22 16:31:09" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164729" "00163865" "1" "02438" "02438" "2018-04-22 16:41:49" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164730" "00163866" "1" "02438" "02438" "2018-04-22 16:45:03" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164731" "00163867" "1" "02438" "02438" "2018-04-22 16:58:30" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164732" "00163868" "1" "02438" "02438" "2018-04-22 17:05:08" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164733" "00163869" "1" "02438" "02438" "2018-04-22 17:08:06" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164734" "00163870" "1" "02438" "02438" "2018-04-22 17:11:18" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164735" "00163871" "1" "02438" "02438" "2018-04-22 17:16:32" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164736" "00163872" "1" "02438" "02438" "2018-04-22 17:19:45" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164737" "00163873" "1" "02438" "02438" "2018-04-22 17:24:57" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164738" "00163874" "1" "02438" "02438" "2018-04-22 17:27:37" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164739" "00163875" "1" "02438" "02438" "2018-04-22 17:31:00" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164740" "00163876" "1" "02438" "02438" "2018-04-22 17:34:02" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164741" "00163877" "1" "02438" "02438" "2018-04-22 17:36:59" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164742" "00163878" "1" "02438" "02438" "2018-04-22 17:39:27" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164743" "00163879" "1" "02438" "02438" "2018-04-22 17:44:50" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164744" "00163880" "1" "02438" "02438" "2018-04-22 17:50:32" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164745" "00163881" "1" "02438" "02438" "2018-04-22 18:03:34" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164746" "00163882" "1" "02438" "02438" "2018-04-22 18:07:01" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164747" "00163883" "1" "02438" "02438" "2018-04-22 18:17:02" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164748" "00163884" "1" "02438" "02438" "2018-04-22 18:19:58" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164749" "00163885" "1" "02438" "02438" "2018-04-22 18:36:33" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164750" "00163886" "1" "02438" "02438" "2018-04-22 18:44:44" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164751" "00163887" "1" "02438" "02438" "2018-04-22 18:53:35" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164752" "00163888" "1" "02438" "02438" "2018-04-22 18:59:08" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy" "0000164753" "00163889" "1" "02438" "02438" "2018-04-22 19:02:10" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164754" "00163890" "1" "02438" "02438" "2018-04-22 19:09:54" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164755" "00163891" "1" "02438" "02438" "2018-04-22 19:14:42" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164756" "00163892" "1" "02438" "02438" "2018-04-22 19:19:39" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164757" "00163893" "1" "02438" "02438" "2018-04-22 19:24:08" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164758" "00163894" "1" "02438" "02438" "2018-04-22 19:33:03" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164759" "00163895" "1" "02438" "02438" "2018-04-22 19:38:00" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164760" "00163896" "1" "02438" "02438" "2018-04-22 19:44:02" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164761" "00163897" "1" "02438" "02438" "2018-04-22 19:49:33" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164762" "00163898" "1" "02438" "02438" "2018-04-22 19:51:59" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164763" "00163899" "1" "02438" "02438" "2018-04-22 20:05:57" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164764" "00163900" "1" "02438" "02438" "2018-04-22 20:10:11" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164765" "00163901" "1" "02438" "02438" "2018-04-22 20:16:03" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164766" "00163902" "1" "02438" "02438" "2018-04-22 20:18:30" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164767" "00163903" "1" "02438" "02438" "2018-04-22 20:21:04" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164768" "00163904" "1" "02438" "02438" "2018-04-22 20:23:29" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164782" "00163919" "1" "00006" "00006" "2018-04-23 12:31:47" "" "" "SEQ" "DNA" "" "gen panel SRI, FKBP1B, CASQ2, PLN, SLN, CALR3, CALM" "0000164783" "00163920" "1" "00006" "00006" "2018-04-23 12:42:25" "" "" "SEQ" "DNA" "" "gen panel SRI, FKBP1B, CASQ2, PLN, SLN, CALR3, CALM" "0000293228" "00292060" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293229" "00292061" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305776" "00304647" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305777" "00304648" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325859" "00315504" "1" "01602" "01602" "2020-12-21 14:08:39" "01602" "2023-02-15 09:47:10" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000164782" "CALR3" "0000164783" "CALR3" "0000164783" "MYBPC3" ## 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 = 211 "{{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}}" "0000218476" "0" "50" "19" "16606592" "16606592" "subst" "3.24844E-5" "02244" "CALR3_000001" "g.16606592T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.16495781T>C" "" "VUS" "" "0000247554" "0" "10" "19" "16590094" "16590094" "subst" "0.00086941" "02330" "CALR3_000004" "g.16590094A>G" "" "" "" "CALR3(NM_145046.4):c.1012-9T>C, CALR3(NM_145046.5):c.1012-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16479283A>G" "" "benign" "" "0000247555" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02330" "CALR3_000052" "g.16594855del" "" "" "" "CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484044del" "" "VUS" "" "0000247574" "0" "10" "19" "16606659" "16606659" "subst" "0.000198969" "02330" "CALR3_000057" "g.16606659A>G" "" "" "" "CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495848A>G" "" "benign" "" "0000247598" "0" "10" "19" "16606683" "16606683" "subst" "0" "02330" "CALR3_000042" "g.16606683A>G" "" "" "" "CALR3(NM_145046.5):c.92-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495872A>G" "" "benign" "" "0000247599" "0" "10" "19" "16606951" "16606951" "subst" "0" "02330" "CALR3_000047" "g.16606951A>C" "" "" "" "CALR3(NM_145046.5):c.-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496140A>C" "" "benign" "" "0000247886" "0" "30" "19" "16596074" "16596074" "subst" "0.00123985" "02325" "CALR3_000055" "g.16596074A>G" "" "" "" "CALR3(NM_145046.4):c.398-6T>C, CALR3(NM_145046.5):c.398-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485263A>G" "" "likely benign" "" "0000248155" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02325" "CALR3_000052" "g.16594855del" "" "" "" "CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484044del" "" "VUS" "" "0000250725" "0" "30" "19" "16596074" "16596074" "subst" "0.00123985" "02326" "CALR3_000055" "g.16596074A>G" "" "" "" "CALR3(NM_145046.4):c.398-6T>C, CALR3(NM_145046.5):c.398-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485263A>G" "" "likely benign" "" "0000250841" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02326" "CALR3_000052" "g.16594855del" "" "" "" "CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484044del" "" "VUS" "" "0000253077" "0" "10" "19" "16596074" "16596074" "subst" "0.00123985" "01943" "CALR3_000055" "g.16596074A>G" "" "" "" "CALR3(NM_145046.4):c.398-6T>C, CALR3(NM_145046.5):c.398-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485263A>G" "" "benign" "" "0000253426" "0" "10" "19" "16590094" "16590094" "subst" "0.00086941" "01943" "CALR3_000004" "g.16590094A>G" "" "" "" "CALR3(NM_145046.4):c.1012-9T>C, CALR3(NM_145046.5):c.1012-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16479283A>G" "" "benign" "" "0000253935" "0" "10" "19" "16601411" "16601411" "subst" "0.0471692" "01943" "CALR3_000035" "g.16601411A>T" "" "" "" "CALR3(NM_145046.4):c.194-30T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490600A>T" "" "benign" "" "0000255058" "0" "30" "19" "16594759" "16594759" "subst" "0" "01943" "CALR3_000020" "g.16594759A>G" "" "" "" "CALR3(NM_145046.4):c.660T>C (p.T220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16483948A>G" "" "likely benign" "" "0000255783" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "01943" "CALR3_000052" "g.16594855del" "" "" "" "CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484044del" "" "VUS" "" "0000264246" "0" "10" "19" "16591413" "16591413" "subst" "0" "02330" "CALR3_000005" "g.16591413C>A" "" "" "" "CALR3(NM_145046.5):c.1011+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16480602C>A" "" "benign" "" "0000264247" "0" "10" "19" "16589984" "16589984" "subst" "1.62425E-5" "02330" "CALR3_000033" "g.16589984G>A" "" "" "" "CALR3(NM_145046.5):c.1113C>T (p.H371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16479173G>A" "" "benign" "" "0000264248" "0" "30" "19" "16601330" "16601330" "subst" "0.000564426" "02330" "CALR3_000002" "g.16601330T>C" "" "" "" "CALR3(NM_145046.4):c.245A>G (p.K82R), CALR3(NM_145046.5):c.245A>G (p.K82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490519T>C" "" "likely benign" "" "0000264249" "0" "10" "19" "16601194" "16601194" "subst" "0.703528" "02330" "CALR3_000031" "g.16601194C>T" "" "" "" "CALR3(NM_145046.4):c.381G>A (p.Q127=), CALR3(NM_145046.5):c.381G>A (p.Q127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490383C>T" "" "benign" "" "0000264250" "0" "10" "19" "16601168" "16601168" "subst" "0.119632" "02330" "CALR3_000030" "g.16601168G>A" "" "" "" "CALR3(NM_145046.4):c.397+10C>T, CALR3(NM_145046.5):c.397+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490357G>A" "" "benign" "" "0000264252" "0" "30" "19" "16596017" "16596020" "del" "0" "02330" "CALR3_000027" "g.16596017_16596020del" "" "" "" "CALR3(NM_145046.5):c.446_449delATTT (p.H149Pfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485206_16485209del" "" "likely benign" "" "0000264253" "0" "10" "19" "16595983" "16595983" "subst" "0.00222133" "02330" "CALR3_000026" "g.16595983G>T" "" "" "" "CALR3(NM_145046.4):c.483C>A (p.I161=, p.=), CALR3(NM_145046.5):c.483C>A (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485172G>T" "" "benign" "" "0000264254" "0" "50" "19" "16595982" "16595982" "subst" "0" "02330" "CALR3_000025" "g.16595982T>C" "" "" "" "CALR3(NM_145046.5):c.484A>G (p.R162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485171T>C" "" "VUS" "" "0000264255" "0" "10" "19" "16606881" "16606881" "subst" "0.000410609" "02330" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "benign" "" "0000264256" "0" "50" "19" "16594793" "16594793" "subst" "3.2487E-5" "02330" "CALR3_000021" "g.16594793G>A" "" "" "" "CALR3(NM_145046.5):c.626C>T (p.T209M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16483982G>A" "" "VUS" "" "0000264257" "0" "10" "19" "16593573" "16593573" "subst" "0.14075" "02330" "CALR3_000018" "g.16593573G>A" "" "" "" "CALR3(NM_145046.4):c.702C>T (p.D234=), CALR3(NM_145046.5):c.702C>T (p.D234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482762G>A" "" "benign" "" "0000264258" "0" "50" "19" "16593378" "16593378" "del" "0" "02330" "CALR3_000014" "g.16593378del" "" "" "" "CALR3(NM_145046.5):c.801delA (p.E268Kfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482567del" "" "VUS" "" "0000264259" "0" "10" "19" "16593359" "16593359" "subst" "0.0345155" "02330" "CALR3_000013" "g.16593359C>T" "" "" "" "CALR3(NM_145046.4):c.820G>A (p.V274I), CALR3(NM_145046.5):c.820G>A (p.V274I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482548C>T" "" "benign" "" "0000264260" "0" "10" "19" "16593331" "16593331" "subst" "0.00034921" "02330" "CALR3_000011" "g.16593331G>A" "" "" "" "CALR3(NM_145046.4):c.848C>T (p.T283I), CALR3(NM_145046.5):c.848C>T (p.T283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482520G>A" "" "benign" "" "0000264261" "0" "10" "19" "16593329" "16593329" "subst" "0.00136843" "02330" "CALR3_000010" "g.16593329C>T" "" "" "" "CALR3(NM_145046.4):c.850G>A (p.D284N, p.(Asp284Asn)), CALR3(NM_145046.5):c.850G>A (p.D284N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482518C>T" "" "benign" "" "0000264262" "0" "10" "19" "16593318" "16593318" "subst" "0.0123974" "02330" "CALR3_000009" "g.16593318C>T" "" "" "" "CALR3(NM_145046.4):c.861G>A (p.T287=), CALR3(NM_145046.5):c.861G>A (p.T287=, p.(Thr287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482507C>T" "" "benign" "" "0000264263" "0" "10" "19" "16606674" "16606674" "subst" "0" "02330" "CALR3_000041" "g.16606674G>A" "" "" "" "CALR3(NM_145046.5):c.92-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495863G>A" "" "benign" "" "0000264264" "0" "10" "19" "16591464" "16591464" "subst" "0.701456" "02330" "CALR3_000006" "g.16591464G>A" "" "" "" "CALR3(NM_145046.4):c.972C>T (p.Y324=), CALR3(NM_145046.5):c.972C>T (p.Y324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16480653G>A" "" "benign" "" "0000266461" "0" "50" "19" "16606611" "16606611" "dup" "0" "02325" "CALR3_000040" "g.16606611dup" "" "" "" "CALR3(NM_145046.5):c.143delAinsAT (p.R50*), CALR3(NM_145046.5):c.147dupT (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495800dup" "" "VUS" "" "0000266463" "0" "30" "19" "16601332" "16601332" "subst" "0.000190849" "02325" "CALR3_000034" "g.16601332G>A" "" "" "" "CALR3(NM_145046.5):c.243C>T (p.F81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490521G>A" "" "likely benign" "" "0000266464" "0" "30" "19" "16601330" "16601330" "subst" "0.000564426" "02325" "CALR3_000002" "g.16601330T>C" "" "" "" "CALR3(NM_145046.4):c.245A>G (p.K82R), CALR3(NM_145046.5):c.245A>G (p.K82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490519T>C" "" "likely benign" "" "0000266465" "0" "50" "19" "16606910" "16606910" "subst" "0" "02325" "CALR3_000045" "g.16606910T>G" "" "" "" "CALR3(NM_145046.5):c.31A>C (p.I11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496099T>G" "" "VUS" "" "0000266466" "0" "30" "19" "16601197" "16601197" "subst" "4.46737E-5" "02325" "CALR3_000032" "g.16601197C>T" "" "" "" "CALR3(NM_145046.5):c.378G>A (p.S126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490386C>T" "" "likely benign" "" "0000266467" "0" "10" "19" "16601194" "16601194" "subst" "0.703528" "02325" "CALR3_000031" "g.16601194C>T" "" "" "" "CALR3(NM_145046.4):c.381G>A (p.Q127=), CALR3(NM_145046.5):c.381G>A (p.Q127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490383C>T" "" "benign" "" "0000266468" "0" "50" "19" "16595982" "16595982" "subst" "0" "02325" "CALR3_000025" "g.16595982T>C" "" "" "" "CALR3(NM_145046.5):c.484A>G (p.R162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485171T>C" "" "VUS" "" "0000266469" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02325" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000266470" "0" "30" "19" "16593318" "16593318" "subst" "0.0123974" "02325" "CALR3_000009" "g.16593318C>T" "" "" "" "CALR3(NM_145046.4):c.861G>A (p.T287=), CALR3(NM_145046.5):c.861G>A (p.T287=, p.(Thr287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482507C>T" "" "likely benign" "" "0000266471" "0" "10" "19" "16591464" "16591464" "subst" "0.701456" "02325" "CALR3_000006" "g.16591464G>A" "" "" "" "CALR3(NM_145046.4):c.972C>T (p.Y324=), CALR3(NM_145046.5):c.972C>T (p.Y324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16480653G>A" "" "benign" "" "0000269697" "0" "50" "19" "16590030" "16590031" "del" "0" "02326" "CALR3_000060" "g.16590030_16590031del" "" "" "" "CALR3(NM_145046.4):c.1068_1069delCG (p.E357Gfs*12), CALR3(NM_145046.5):c.1068_1069delCG (p.E357Gfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16479219_16479220del" "" "VUS" "" "0000269699" "0" "30" "19" "16601330" "16601330" "subst" "0.000564426" "02326" "CALR3_000002" "g.16601330T>C" "" "" "" "CALR3(NM_145046.4):c.245A>G (p.K82R), CALR3(NM_145046.5):c.245A>G (p.K82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490519T>C" "" "likely benign" "" "0000269700" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02326" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000269701" "0" "10" "19" "16594722" "16594722" "subst" "0" "02326" "CALR3_000019" "g.16594722G>C" "" "" "" "CALR3(NM_145046.4):c.678+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16483911G>C" "" "benign" "" "0000269702" "0" "10" "19" "16593359" "16593359" "subst" "0.0345155" "02326" "CALR3_000013" "g.16593359C>T" "" "" "" "CALR3(NM_145046.4):c.820G>A (p.V274I), CALR3(NM_145046.5):c.820G>A (p.V274I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482548C>T" "" "benign" "" "0000269703" "0" "10" "19" "16593329" "16593329" "subst" "0.00136843" "02326" "CALR3_000010" "g.16593329C>T" "" "" "" "CALR3(NM_145046.4):c.850G>A (p.D284N, p.(Asp284Asn)), CALR3(NM_145046.5):c.850G>A (p.D284N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482518C>T" "" "benign" "" "0000272554" "0" "50" "19" "16606954" "16606954" "subst" "5.12857E-6" "01943" "CALR3_000048" "g.16606954G>A" "" "" "" "CALR3(NM_145046.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496143G>A" "" "VUS" "" "0000272556" "0" "30" "19" "16606596" "16606596" "subst" "8.1211E-6" "01943" "CALR3_000037" "g.16606596C>T" "" "" "" "CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495785C>T" "" "likely benign" "" "0000272557" "0" "10" "19" "16606545" "16606545" "subst" "1.62508E-5" "01943" "CALR3_000036" "g.16606545C>T" "" "" "" "CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495734C>T" "" "benign" "" "0000272558" "0" "30" "19" "16601330" "16601330" "subst" "0.000564426" "01943" "CALR3_000002" "g.16601330T>C" "" "" "" "CALR3(NM_145046.4):c.245A>G (p.K82R), CALR3(NM_145046.5):c.245A>G (p.K82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490519T>C" "" "likely benign" "" "0000272559" "0" "30" "19" "16606910" "16606910" "subst" "1.72582E-5" "01943" "CALR3_000046" "g.16606910T>C" "" "" "" "CALR3(NM_145046.4):c.31A>G (p.I11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496099T>C" "" "likely benign" "" "0000272560" "0" "10" "19" "16601194" "16601194" "subst" "0.703528" "01943" "CALR3_000031" "g.16601194C>T" "" "" "" "CALR3(NM_145046.4):c.381G>A (p.Q127=), CALR3(NM_145046.5):c.381G>A (p.Q127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490383C>T" "" "benign" "" "0000272561" "0" "10" "19" "16601168" "16601168" "subst" "0.119632" "01943" "CALR3_000030" "g.16601168G>A" "" "" "" "CALR3(NM_145046.4):c.397+10C>T, CALR3(NM_145046.5):c.397+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490357G>A" "" "benign" "" "0000272562" "0" "10" "19" "16601154" "16601154" "subst" "0.665168" "01943" "CALR3_000029" "g.16601154T>C" "" "" "" "CALR3(NM_145046.4):c.397+24A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16490343T>C" "" "benign" "" "0000272563" "0" "10" "19" "16595983" "16595983" "subst" "0.00222133" "01943" "CALR3_000026" "g.16595983G>T" "" "" "" "CALR3(NM_145046.4):c.483C>A (p.I161=, p.=), CALR3(NM_145046.5):c.483C>A (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16485172G>T" "" "benign" "" "0000272565" "0" "50" "19" "16594899" "16594899" "subst" "2.03042E-5" "01943" "CALR3_000023" "g.16594899G>T" "" "" "" "CALR3(NM_145046.4):c.520C>A (p.L174I), CALR3(NM_145046.5):c.520C>A (p.L174I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484088G>T" "" "VUS" "" "0000272566" "0" "30" "19" "16594825" "16594825" "subst" "0.000109639" "01943" "CALR3_000022" "g.16594825G>A" "" "" "" "CALR3(NM_145046.4):c.594C>T (p.Y198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16484014G>A" "" "likely benign" "" "0000272567" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "01943" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000272568" "0" "10" "19" "16593573" "16593573" "subst" "0.14075" "01943" "CALR3_000018" "g.16593573G>A" "" "" "" "CALR3(NM_145046.4):c.702C>T (p.D234=), CALR3(NM_145046.5):c.702C>T (p.D234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482762G>A" "" "benign" "" "0000272569" "0" "50" "19" "16606869" "16606869" "subst" "0" "01943" "CALR3_000043" "g.16606869T>C" "" "" "" "CALR3(NM_145046.4):c.72A>G (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496058T>C" "" "VUS" "" "0000272570" "0" "30" "19" "16593466" "16593466" "subst" "2.43651E-5" "01943" "CALR3_000017" "g.16593466C>T" "" "" "" "CALR3(NM_145046.4):c.786+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482655C>T" "" "likely benign" "" "0000272571" "0" "10" "19" "16593461" "16593461" "subst" "0.000605052" "01943" "CALR3_000016" "g.16593461C>T" "" "" "" "CALR3(NM_145046.4):c.786+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482650C>T" "" "benign" "" "0000272572" "0" "10" "19" "16593415" "16593415" "subst" "0.70449" "01943" "CALR3_000015" "g.16593415G>A" "" "" "" "CALR3(NM_145046.4):c.787-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482604G>A" "" "benign" "" "0000272573" "0" "10" "19" "16593359" "16593359" "subst" "0.0345155" "01943" "CALR3_000013" "g.16593359C>T" "" "" "" "CALR3(NM_145046.4):c.820G>A (p.V274I), CALR3(NM_145046.5):c.820G>A (p.V274I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482548C>T" "" "benign" "" "0000272574" "0" "30" "19" "16593348" "16593348" "subst" "0" "01943" "CALR3_000012" "g.16593348G>A" "" "" "" "CALR3(NM_145046.4):c.831C>T (p.H277=), CALR3(NM_145046.5):c.831C>T (p.H277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482537G>A" "" "likely benign" "" "0000272575" "0" "10" "19" "16593329" "16593329" "subst" "0.00136843" "01943" "CALR3_000010" "g.16593329C>T" "" "" "" "CALR3(NM_145046.4):c.850G>A (p.D284N, p.(Asp284Asn)), CALR3(NM_145046.5):c.850G>A (p.D284N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482518C>T" "" "benign" "" "0000272576" "0" "10" "19" "16593318" "16593318" "subst" "0.0123974" "01943" "CALR3_000009" "g.16593318C>T" "" "" "" "CALR3(NM_145046.4):c.861G>A (p.T287=), CALR3(NM_145046.5):c.861G>A (p.T287=, p.(Thr287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482507C>T" "" "benign" "" "0000272577" "0" "30" "19" "16593245" "16593245" "subst" "5.68597E-5" "01943" "CALR3_000008" "g.16593245G>A" "" "" "" "CALR3(NM_145046.4):c.918+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482434G>A" "" "likely benign" "" "0000272578" "0" "10" "19" "16593214" "16593218" "del" "0" "01943" "CALR3_000007" "g.16593214_16593218del" "" "" "" "CALR3(NM_145046.4):c.918+67_918+71delTTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16482403_16482407del" "" "benign" "" "0000272579" "0" "10" "19" "16591464" "16591464" "subst" "0.701456" "01943" "CALR3_000006" "g.16591464G>A" "" "" "" "CALR3(NM_145046.4):c.972C>T (p.Y324=), CALR3(NM_145046.5):c.972C>T (p.Y324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16480653G>A" "" "benign" "" "0000368281" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02438" "CALR3_000059" "g.16606920C>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs201886703" "0" "" "" "g.16496109C>G" "" "VUS" "" "0000368282" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02438" "CALR3_000059" "g.16606920C>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs201886703" "0" "" "" "g.16496109C>G" "" "VUS" "" "0000368284" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02438" "CALR3_000059" "g.16606920C>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs201886703" "0" "" "" "g.16496109C>G" "" "VUS" "" "0000368288" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02438" "CALR3_000059" "g.16606920C>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs201886703" "0" "" "" "g.16496109C>G" "" "VUS" "" "0000368289" "0" "50" "19" "16606910" "16606910" "subst" "1.72582E-5" "02438" "CALR3_000046" "g.16606910T>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs755784741" "0" "" "" "g.16496099T>C" "" "VUS" "" "0000368296" "0" "50" "19" "16606910" "16606910" "subst" "0" "02438" "CALR3_000045" "g.16606910T>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16496099T>G" "" "VUS" "" "0000368297" "0" "50" "19" "16606910" "16606910" "subst" "0" "02438" "CALR3_000045" "g.16606910T>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16496099T>G" "" "VUS" "" "0000368299" "0" "50" "19" "16606910" "16606910" "subst" "0" "02438" "CALR3_000045" "g.16606910T>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16496099T>G" "" "VUS" "" "0000368302" "0" "50" "19" "16606874" "16606874" "subst" "3.54217E-5" "02438" "CALR3_000058" "g.16606874A>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs368506422" "0" "" "" "g.16496063A>T" "" "VUS" "" "0000368303" "0" "50" "19" "16606869" "16606869" "subst" "0" "02438" "CALR3_000043" "g.16606869T>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "may affect splicing" "Germline" "?" "" "0" "" "" "g.16496058T>C" "" "VUS" "" "0000368304" "0" "50" "19" "16606611" "16606611" "dup" "0" "02438" "CALR3_000056" "g.16606611dup" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16495800dup" "" "VUS" "" "0000368306" "0" "50" "19" "16606611" "16606611" "dup" "0" "02438" "CALR3_000056" "g.16606611dup" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16495800dup" "" "VUS" "" "0000368307" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368308" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368310" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368311" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368313" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368314" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368315" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02438" "CALR3_000054" "g.16596063C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143932873" "0" "" "" "g.16485252C>T" "" "VUS" "" "0000368316" "0" "50" "19" "16596059" "16596059" "subst" "0" "02438" "CALR3_000053" "g.16596059A>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "no" "rs903597980" "0" "" "" "g.16485248A>G" "" "VUS" "" "0000368317" "0" "50" "19" "16596059" "16596059" "subst" "0" "02438" "CALR3_000053" "g.16596059A>G" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs903597980" "0" "" "" "g.16485248A>G" "" "VUS" "" "0000368318" "0" "50" "19" "16595982" "16595982" "subst" "0" "02438" "CALR3_000025" "g.16595982T>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16485171T>C" "" "VUS" "" "0000368320" "0" "50" "19" "16595982" "16595982" "subst" "0" "02438" "CALR3_000025" "g.16595982T>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "no" "" "0" "" "" "g.16485171T>C" "" "VUS" "" "0000368322" "21" "50" "19" "16594899" "16594899" "subst" "2.03042E-5" "02438" "CALR3_000023" "g.16594899G>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs143671909" "0" "" "" "g.16484088G>T" "" "VUS" "" "0000368324" "20" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "no" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368325" "11" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368327" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368328" "11" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368330" "21" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "yes" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368333" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368336" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368338" "20" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "no" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368339" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368342" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "yes" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368344" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "?" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368346" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368348" "21" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368351" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368353" "0" "70" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368355" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368357" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02438" "CALR3_000052" "g.16594855del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs747656642" "0" "" "" "g.16484044del" "" "VUS" "" "0000368358" "0" "50" "19" "16594793" "16594793" "subst" "3.2487E-5" "02438" "CALR3_000021" "g.16594793G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs746871999" "0" "" "" "g.16483982G>A" "" "VUS" "" "0000368362" "0" "50" "19" "16593378" "16593378" "del" "0" "02438" "CALR3_000014" "g.16593378del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16482567del" "" "VUS" "" "0000368364" "0" "50" "19" "16593346" "16593346" "subst" "8.12117E-6" "02438" "CALR3_000051" "g.16593346C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16482535C>T" "" "VUS" "" "0000368366" "0" "50" "19" "16593346" "16593346" "subst" "8.12117E-6" "02438" "CALR3_000051" "g.16593346C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16482535C>T" "" "VUS" "" "0000368367" "0" "50" "19" "16593319" "16593319" "subst" "1.21819E-5" "02438" "CALR3_000050" "g.16593319G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs772912504" "0" "" "" "g.16482508G>A" "" "VUS" "" "0000368368" "0" "50" "19" "16590030" "16590031" "del" "0" "02438" "CALR3_000060" "g.16590030_16590031del" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.16479219_16479220del" "" "VUS" "" "0000368369" "0" "50" "19" "16590003" "16590003" "subst" "0" "02438" "CALR3_000049" "g.16590003G>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs768015132" "0" "" "" "g.16479192G>C" "" "VUS" "" "0000368384" "10" "70" "19" "16601330" "16601330" "subst" "0.000564426" "00006" "CALR3_000002" "g.16601330T>C" "" "{PMID:Chiu 2007:17655857}, {OMIM611414:0001}" "" "" "not in 650 control chromosomes" "Germline" "" "" "0" "" "" "g.16490519T>C" "" "likely pathogenic" "" "0000368385" "10" "90" "19" "16601357" "16601357" "subst" "1.62429E-5" "00006" "CALR3_000003" "g.16601357C>T" "" "{PMID:Chiu 2007:17655857}" "" "" "" "Germline" "" "" "0" "" "" "g.16490546C>T" "" "pathogenic" "" "0000566455" "0" "10" "19" "16589990" "16589990" "subst" "0" "02330" "CALR3_000061" "g.16589990G>A" "" "" "" "CALR3(NM_145046.5):c.1107C>T (p.N369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479179G>A" "" "benign" "" "0000566456" "0" "10" "19" "16590002" "16590002" "subst" "4.06062E-6" "02330" "CALR3_000062" "g.16590002C>G" "" "" "" "CALR3(NM_145046.5):c.1095G>C (p.S365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479191C>G" "" "benign" "" "0000566457" "0" "10" "19" "16590030" "16590030" "subst" "0.00171364" "02330" "CALR3_000063" "g.16590030C>A" "" "" "" "CALR3(NM_145046.4):c.1067G>T (p.R356L), CALR3(NM_145046.5):c.1067G>T (p.R356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479219C>A" "" "benign" "" "0000566458" "0" "10" "19" "16590030" "16590030" "subst" "0.00171364" "02327" "CALR3_000063" "g.16590030C>A" "" "" "" "CALR3(NM_145046.4):c.1067G>T (p.R356L), CALR3(NM_145046.5):c.1067G>T (p.R356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479219C>A" "" "benign" "" "0000566459" "0" "10" "19" "16590030" "16590030" "subst" "0.00171364" "02326" "CALR3_000063" "g.16590030C>A" "" "" "" "CALR3(NM_145046.4):c.1067G>T (p.R356L), CALR3(NM_145046.5):c.1067G>T (p.R356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479219C>A" "" "benign" "" "0000566461" "0" "10" "19" "16590094" "16590094" "subst" "0.00086941" "02326" "CALR3_000004" "g.16590094A>G" "" "" "" "CALR3(NM_145046.4):c.1012-9T>C, CALR3(NM_145046.5):c.1012-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479283A>G" "" "benign" "" "0000566462" "0" "10" "19" "16593318" "16593318" "subst" "0.0123974" "02327" "CALR3_000009" "g.16593318C>T" "" "" "" "CALR3(NM_145046.4):c.861G>A (p.T287=), CALR3(NM_145046.5):c.861G>A (p.T287=, p.(Thr287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482507C>T" "" "benign" "" "0000566463" "0" "50" "19" "16593319" "16593319" "subst" "1.21819E-5" "02326" "CALR3_000050" "g.16593319G>A" "" "" "" "CALR3(NM_145046.4):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482508G>A" "" "VUS" "" "0000566464" "0" "30" "19" "16593331" "16593331" "subst" "0.00034921" "01943" "CALR3_000011" "g.16593331G>A" "" "" "" "CALR3(NM_145046.4):c.848C>T (p.T283I), CALR3(NM_145046.5):c.848C>T (p.T283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482520G>A" "" "likely benign" "" "0000566465" "0" "50" "19" "16593346" "16593346" "subst" "8.12117E-6" "02330" "CALR3_000051" "g.16593346C>T" "" "" "" "CALR3(NM_145046.4):c.833G>A (p.R278H), CALR3(NM_145046.5):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482535C>T" "" "VUS" "" "0000566466" "0" "30" "19" "16593346" "16593346" "subst" "8.12117E-6" "01943" "CALR3_000051" "g.16593346C>T" "" "" "" "CALR3(NM_145046.4):c.833G>A (p.R278H), CALR3(NM_145046.5):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482535C>T" "" "likely benign" "" "0000566467" "0" "10" "19" "16593359" "16593359" "subst" "0.0345155" "02327" "CALR3_000013" "g.16593359C>T" "" "" "" "CALR3(NM_145046.4):c.820G>A (p.V274I), CALR3(NM_145046.5):c.820G>A (p.V274I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482548C>T" "" "benign" "" "0000566468" "0" "30" "19" "16593537" "16593537" "subst" "0" "01943" "CALR3_000065" "g.16593537G>T" "" "" "" "CALR3(NM_145046.4):c.738C>A (p.D246E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482726G>T" "" "likely benign" "" "0000566469" "0" "50" "19" "16593551" "16593551" "subst" "8.1275E-5" "02330" "CALR3_000066" "g.16593551C>T" "" "" "" "CALR3(NM_145046.5):c.724G>A (p.D242N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482740C>T" "" "VUS" "" "0000566471" "0" "50" "19" "16594855" "16594855" "del" "7.30923E-5" "02327" "CALR3_000052" "g.16594855del" "" "" "" "CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16484044del" "" "VUS" "" "0000566472" "0" "10" "19" "16595965" "16595965" "subst" "5.71387E-5" "02330" "CALR3_000068" "g.16595965A>G" "" "" "" "CALR3(NM_145046.5):c.492+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485154A>G" "" "benign" "" "0000566473" "0" "10" "19" "16595983" "16595983" "subst" "0.00222133" "02327" "CALR3_000026" "g.16595983G>T" "" "" "" "CALR3(NM_145046.4):c.483C>A (p.I161=, p.=), CALR3(NM_145046.5):c.483C>A (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485172G>T" "" "benign" "" "0000566474" "0" "30" "19" "16596022" "16596023" "ins" "0" "02330" "CALR3_000069" "g.16596022_16596023insGGCA" "" "" "" "CALR3(NM_145046.5):c.443_444insTGCC (p.L148Ffs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485211_16485212insGGCA" "" "likely benign" "" "0000566475" "0" "50" "19" "16596048" "16596048" "subst" "2.4504E-5" "02325" "CALR3_000070" "g.16596048C>A" "" "" "" "CALR3(NM_145046.5):c.418G>T (p.D140Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485237C>A" "" "VUS" "" "0000566476" "0" "50" "19" "16596059" "16596059" "subst" "0" "02327" "CALR3_000053" "g.16596059A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485248A>G" "" "VUS" "" "0000566477" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02330" "CALR3_000054" "g.16596063C>T" "" "" "" "CALR3(NM_145046.4):c.403G>A (p.D135N), CALR3(NM_145046.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485252C>T" "" "VUS" "" "0000566478" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "01943" "CALR3_000054" "g.16596063C>T" "" "" "" "CALR3(NM_145046.4):c.403G>A (p.D135N), CALR3(NM_145046.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485252C>T" "" "VUS" "" "0000566479" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02325" "CALR3_000054" "g.16596063C>T" "" "" "" "CALR3(NM_145046.4):c.403G>A (p.D135N), CALR3(NM_145046.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485252C>T" "" "VUS" "" "0000566480" "0" "50" "19" "16596063" "16596063" "subst" "8.18478E-5" "02326" "CALR3_000054" "g.16596063C>T" "" "" "" "CALR3(NM_145046.4):c.403G>A (p.D135N), CALR3(NM_145046.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485252C>T" "" "VUS" "" "0000566481" "0" "10" "19" "16596074" "16596074" "subst" "0.00123985" "02330" "CALR3_000055" "g.16596074A>G" "" "" "" "CALR3(NM_145046.4):c.398-6T>C, CALR3(NM_145046.5):c.398-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485263A>G" "" "benign" "" "0000566482" "0" "10" "19" "16596074" "16596074" "subst" "0.00123985" "02327" "CALR3_000055" "g.16596074A>G" "" "" "" "CALR3(NM_145046.4):c.398-6T>C, CALR3(NM_145046.5):c.398-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485263A>G" "" "benign" "" "0000566483" "0" "10" "19" "16601154" "16601154" "subst" "0.665168" "02327" "CALR3_000029" "g.16601154T>C" "" "" "" "CALR3(NM_145046.4):c.397+24A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490343T>C" "" "benign" "" "0000566484" "0" "10" "19" "16601194" "16601194" "subst" "0.703528" "02327" "CALR3_000031" "g.16601194C>T" "" "" "" "CALR3(NM_145046.4):c.381G>A (p.Q127=), CALR3(NM_145046.5):c.381G>A (p.Q127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490383C>T" "" "benign" "" "0000566485" "0" "30" "19" "16601254" "16601254" "subst" "0" "02327" "CALR3_000071" "g.16601254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490443C>T" "" "likely benign" "" "0000566486" "0" "50" "19" "16601358" "16601358" "subst" "4.4669E-5" "02327" "CALR3_000072" "g.16601358G>C" "" "" "" "CALR3(NM_145046.4):c.217C>G (p.R73G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490547G>C" "" "VUS" "" "0000566487" "0" "30" "19" "16601358" "16601358" "subst" "4.4669E-5" "02326" "CALR3_000072" "g.16601358G>C" "" "" "" "CALR3(NM_145046.4):c.217C>G (p.R73G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490547G>C" "" "likely benign" "" "0000566488" "0" "30" "19" "16606592" "16606592" "subst" "3.24844E-5" "02325" "CALR3_000001" "g.16606592T>C" "" "" "" "CALR3(NM_145046.5):c.163A>G (p.K55E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495781T>C" "" "likely benign" "" "0000566489" "0" "50" "19" "16606603" "16606603" "dup" "0" "02326" "C19orf44_000001" "g.16606603dup" "" "" "" "CALR3(NM_145046.4):c.154dupT (p.S52Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495792dup" "" "VUS" "" "0000566490" "0" "10" "19" "16606630" "16606630" "subst" "0.000328907" "02330" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "benign" "" "0000566491" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "01943" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566492" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "02327" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566493" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "02326" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566494" "0" "10" "19" "16606821" "16606821" "subst" "0.00215871" "01943" "C19orf44_000003" "g.16606821C>T" "" "" "" "CALR3(NM_145046.4):c.91+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16496010C>T" "" "benign" "" "0000617431" "0" "30" "19" "16590009" "16590009" "subst" "0" "01943" "CALR3_000073" "g.16590009A>T" "" "" "" "CALR3(NM_145046.4):c.1088T>A (p.L363Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479198A>T" "" "likely benign" "" "0000617432" "0" "30" "19" "16590017" "16590017" "subst" "8.12117E-6" "02327" "CALR3_000074" "g.16590017C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16479206C>T" "" "likely benign" "" "0000617433" "0" "30" "19" "16593347" "16593347" "subst" "2.84241E-5" "02327" "CALR3_000075" "g.16593347G>A" "" "" "" "CALR3(NM_145046.5):c.832C>T (p.R278C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482536G>A" "" "likely benign" "" "0000617434" "0" "30" "19" "16593517" "16593517" "subst" "2.03113E-5" "02327" "CALR3_000076" "g.16593517G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482706G>A" "" "likely benign" "" "0000617435" "0" "50" "19" "16594874" "16594874" "subst" "8.12137E-6" "02327" "CALR3_000077" "g.16594874T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16484063T>C" "" "VUS" "" "0000617436" "0" "50" "19" "16594899" "16594899" "subst" "2.03042E-5" "02325" "CALR3_000023" "g.16594899G>T" "" "" "" "CALR3(NM_145046.4):c.520C>A (p.L174I), CALR3(NM_145046.5):c.520C>A (p.L174I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16484088G>T" "" "VUS" "" "0000617437" "0" "30" "19" "16596064" "16596064" "subst" "4.0934E-6" "02327" "CALR3_000078" "g.16596064G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485253G>A" "" "likely benign" "" "0000617438" "0" "10" "19" "16596072" "16596072" "subst" "8.62253E-5" "02330" "CALR3_000079" "g.16596072C>T" "" "" "" "CALR3(NM_145046.5):c.398-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16485261C>T" "" "benign" "" "0000617439" "0" "30" "19" "16601330" "16601330" "subst" "0.000564426" "02327" "CALR3_000002" "g.16601330T>C" "" "" "" "CALR3(NM_145046.4):c.245A>G (p.K82R), CALR3(NM_145046.5):c.245A>G (p.K82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16490519T>C" "" "likely benign" "" "0000617440" "0" "10" "19" "16606545" "16606545" "subst" "1.62508E-5" "02330" "CALR3_000036" "g.16606545C>T" "" "" "" "CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495734C>T" "" "benign" "" "0000617441" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02327" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16496070G>C" "" "likely benign" "" "0000649917" "1" "10" "19" "16593318" "16593318" "subst" "0.0123974" "03575" "CALR3_000009" "g.16593318C>T" "53/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "53 heterozygous; {DB:CLININrs118131979}" "Germline" "" "rs118131979" "0" "" "" "g.16482507C>T" "" "benign" "" "0000649918" "1" "10" "19" "16593359" "16593359" "subst" "0.0345155" "03575" "CALR3_000013" "g.16593359C>T" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous; {DB:CLININrs12459238}" "Germline" "" "rs12459238" "0" "" "" "g.16482548C>T" "" "benign" "" "0000658518" "0" "50" "19" "16593347" "16593347" "subst" "2.84241E-5" "02330" "CALR3_000075" "g.16593347G>A" "" "" "" "CALR3(NM_145046.5):c.832C>T (p.R278C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16482536G>A" "" "VUS" "" "0000669464" "3" "10" "19" "16593318" "16593318" "subst" "0.0123974" "03575" "CALR3_000009" "g.16593318C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs118131979}" "Germline" "" "rs118131979" "0" "" "" "g.16482507C>T" "" "benign" "" "0000669465" "3" "10" "19" "16593359" "16593359" "subst" "0.0345155" "03575" "CALR3_000013" "g.16593359C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs12459238}" "Germline" "" "rs12459238" "0" "" "" "g.16482548C>T" "" "benign" "" "0000681323" "0" "30" "19" "16593329" "16593329" "subst" "0.00136843" "01804" "CALR3_000010" "g.16593329C>T" "" "" "" "CALR3(NM_145046.4):c.850G>A (p.D284N, p.(Asp284Asn)), CALR3(NM_145046.5):c.850G>A (p.D284N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681324" "0" "30" "19" "16593331" "16593331" "subst" "0.00034921" "02326" "CALR3_000011" "g.16593331G>A" "" "" "" "CALR3(NM_145046.4):c.848C>T (p.T283I), CALR3(NM_145046.5):c.848C>T (p.T283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681325" "0" "30" "19" "16606659" "16606659" "subst" "0.000198969" "01943" "CALR3_000057" "g.16606659A>G" "" "" "" "CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000709013" "0" "90" "19" "16601188" "16601188" "dup" "0" "01602" "CALR3_000080" "g.16601188dup" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000727191" "0" "50" "19" "16590030" "16590031" "del" "0" "02330" "CALR3_000060" "g.16590030_16590031del" "" "" "" "CALR3(NM_145046.4):c.1068_1069delCG (p.E357Gfs*12), CALR3(NM_145046.5):c.1068_1069delCG (p.E357Gfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727192" "0" "30" "19" "16606902" "16606902" "subst" "0" "01943" "C19orf44_000004" "g.16606902C>A" "" "" "" "CALR3(NM_145046.4):c.39G>T (p.M13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808745" "0" "50" "19" "16591433" "16591433" "subst" "4.06124E-6" "02330" "CALR3_000081" "g.16591433C>T" "" "" "" "CALR3(NM_145046.5):c.1003G>A (p.E335K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808746" "0" "50" "19" "16593346" "16593346" "subst" "8.12117E-6" "02326" "CALR3_000051" "g.16593346C>T" "" "" "" "CALR3(NM_145046.4):c.833G>A (p.R278H), CALR3(NM_145046.5):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808747" "0" "10" "19" "16593504" "16593504" "subst" "4.06111E-6" "02330" "CALR3_000082" "g.16593504C>T" "" "" "" "CALR3(NM_145046.5):c.771G>A (p.Q257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808748" "0" "10" "19" "16595983" "16595983" "subst" "0.00222133" "02326" "CALR3_000026" "g.16595983G>T" "" "" "" "CALR3(NM_145046.4):c.483C>A (p.I161=, p.=), CALR3(NM_145046.5):c.483C>A (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808749" "0" "50" "19" "16606600" "16606600" "subst" "0" "02330" "C19orf44_000005" "g.16606600G>A" "" "" "" "CALR3(NM_145046.5):c.155C>T (p.S52L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855471" "0" "50" "19" "16593388" "16593388" "subst" "2.43637E-5" "02330" "CALR3_000083" "g.16593388C>A" "" "" "" "CALR3(NM_145046.5):c.791G>T (p.G264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855472" "0" "10" "19" "16601197" "16601197" "subst" "4.46737E-5" "02330" "CALR3_000032" "g.16601197C>T" "" "" "" "CALR3(NM_145046.5):c.378G>A (p.S126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894845" "0" "50" "19" "16593496" "16593496" "subst" "0" "02330" "CALR3_000084" "g.16593496G>A" "" "" "" "CALR3(NM_145046.5):c.779C>T (p.P260L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894846" "0" "50" "19" "16594899" "16594899" "subst" "2.03042E-5" "02330" "CALR3_000023" "g.16594899G>T" "" "" "" "CALR3(NM_145046.4):c.520C>A (p.L174I), CALR3(NM_145046.5):c.520C>A (p.L174I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894847" "0" "50" "19" "16596048" "16596048" "subst" "2.4504E-5" "02330" "CALR3_000070" "g.16596048C>A" "" "" "" "CALR3(NM_145046.5):c.418G>T (p.D140Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915156" "0" "10" "19" "16606596" "16606596" "subst" "8.1211E-6" "02330" "CALR3_000037" "g.16606596C>T" "" "" "" "CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926836" "0" "10" "19" "16606945" "16606945" "subst" "0" "02330" "C19orf44_000006" "g.16606945G>A" "" "" "" "CALR3(NM_145046.5):c.-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926837" "0" "10" "19" "16606946" "16606946" "subst" "0" "02330" "C19orf44_000007" "g.16606946T>A" "" "" "" "CALR3(NM_145046.5):c.-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951241" "0" "10" "19" "16606833" "16606833" "subst" "0" "02330" "C19orf44_000008" "g.16606833G>T" "" "" "" "CALR3(NM_145046.5):c.91+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969607" "0" "50" "19" "16593395" "16593395" "subst" "5.27893E-5" "02330" "CALR3_000085" "g.16593395G>C" "" "" "" "CALR3(NM_145046.5):c.787-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969608" "0" "10" "19" "16593495" "16593495" "subst" "5.27923E-5" "02330" "CALR3_000086" "g.16593495C>T" "" "" "" "CALR3(NM_145046.5):c.780G>A (p.P260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015759" "0" "30" "19" "16589983" "16589983" "subst" "0.000292364" "02330" "CALR3_000087" "g.16589983C>G" "" "" "" "CALR3(NM_145046.5):c.1114G>C (p.E372Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015760" "0" "10" "19" "16593330" "16593330" "subst" "1.62426E-5" "02330" "CALR3_000088" "g.16593330G>A" "" "" "" "CALR3(NM_145046.5):c.849C>T (p.T283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015761" "0" "30" "19" "16593348" "16593348" "subst" "0" "02330" "CALR3_000012" "g.16593348G>A" "" "" "" "CALR3(NM_145046.4):c.831C>T (p.H277=), CALR3(NM_145046.5):c.831C>T (p.H277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015762" "0" "50" "19" "16593359" "16593359" "subst" "0" "02330" "CALR3_000089" "g.16593359C>G" "" "" "" "CALR3(NM_145046.5):c.820G>C (p.V274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027186" "0" "50" "19" "16590019" "16590019" "subst" "0" "02330" "CALR3_000090" "g.16590019C>A" "" "" "" "CALR3(NM_145046.5):c.1078G>T (p.E360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027187" "0" "30" "19" "16593378" "16593378" "subst" "0" "02330" "CALR3_000091" "g.16593378T>G" "" "" "" "CALR3(NM_145046.5):c.801A>C (p.P267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027188" "0" "50" "19" "16593543" "16593543" "dup" "0" "02330" "CALR3_000092" "g.16593543dup" "" "" "" "CALR3(NM_145046.5):c.732dupC (p.G245Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027189" "0" "50" "19" "16606910" "16606910" "subst" "0" "02330" "CALR3_000045" "g.16606910T>G" "" "" "" "CALR3(NM_145046.5):c.31A>C (p.I11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042742" "0" "30" "19" "16591434" "16591434" "subst" "5.2803E-5" "01804" "CALR3_000093" "g.16591434G>A" "" "" "" "CALR3(NM_145046.5):c.1002C>T (p.(Gly334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042743" "0" "30" "19" "16593318" "16593318" "subst" "0.0123974" "01804" "CALR3_000009" "g.16593318C>T" "" "" "" "CALR3(NM_145046.4):c.861G>A (p.T287=), CALR3(NM_145046.5):c.861G>A (p.T287=, p.(Thr287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042744" "0" "10" "19" "16606546" "16606547" "del" "1.21881E-5" "02330" "C19orf44_000013" "g.16606546_16606547del" "" "" "" "CALR3(NM_145046.5):c.193+15_193+16delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042745" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02330" "CALR3_000059" "g.16606920C>G" "" "" "" "CALR3(NM_145046.5):c.21G>C (p.Q7H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CALR3 ## Count = 211 "{{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}}" "0000218476" "00004299" "50" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Lys55Glu)" "" "0000247554" "00004299" "10" "1012" "-9" "1012" "-9" "c.1012-9T>C" "r.(=)" "p.(=)" "" "0000247555" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189SerfsTer8)" "" "0000247574" "00004299" "10" "96" "0" "96" "0" "c.96T>C" "r.(?)" "p.(His32=)" "" "0000247598" "00004299" "10" "92" "-20" "92" "-20" "c.92-20T>C" "r.(=)" "p.(=)" "" "0000247599" "00004299" "10" "-11" "0" "-11" "0" "c.-11T>G" "r.(?)" "p.(=)" "" "0000247886" "00004299" "30" "398" "-6" "398" "-6" "c.398-6T>C" "r.(=)" "p.(=)" "" "0000248155" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189SerfsTer8)" "" "0000250725" "00004299" "30" "398" "-6" "398" "-6" "c.398-6T>C" "r.(=)" "p.(=)" "" "0000250841" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189SerfsTer8)" "" "0000253077" "00004299" "10" "398" "-6" "398" "-6" "c.398-6T>C" "r.(=)" "p.(=)" "" "0000253426" "00004299" "10" "1012" "-9" "1012" "-9" "c.1012-9T>C" "r.(=)" "p.(=)" "" "0000253935" "00004299" "10" "194" "-30" "194" "-30" "c.194-30T>A" "r.(=)" "p.(=)" "" "0000255058" "00004299" "30" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(Thr220=)" "" "0000255783" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189SerfsTer8)" "" "0000264246" "00004299" "10" "1011" "12" "1011" "12" "c.1011+12G>T" "r.(=)" "p.(=)" "" "0000264247" "00004299" "10" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(His371=)" "" "0000264248" "00004299" "30" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "" "0000264249" "00004299" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Gln127=)" "" "0000264250" "00004299" "10" "397" "10" "397" "10" "c.397+10C>T" "r.(=)" "p.(=)" "" "0000264252" "00004299" "30" "446" "0" "449" "0" "c.446_449del" "r.(?)" "p.(His149ProfsTer11)" "" "0000264253" "00004299" "10" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ile161=)" "" "0000264254" "00004299" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Arg162Gly)" "" "0000264255" "00004299" "10" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Thr20=)" "" "0000264256" "00004299" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Thr209Met)" "" "0000264257" "00004299" "10" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Asp234=)" "" "0000264258" "00004299" "50" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Glu268LysfsTer13)" "" "0000264259" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000264260" "00004299" "10" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Ile)" "" "0000264261" "00004299" "10" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0000264262" "00004299" "10" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0000264263" "00004299" "10" "92" "-11" "92" "-11" "c.92-11C>T" "r.(=)" "p.(=)" "" "0000264264" "00004299" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Tyr324=)" "" "0000266461" "00004299" "50" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Arg50Ter)" "" "0000266463" "00004299" "30" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Phe81=)" "" "0000266464" "00004299" "30" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "" "0000266465" "00004299" "50" "31" "0" "31" "0" "c.31A>C" "r.(?)" "p.(Ile11Leu)" "" "0000266466" "00004299" "30" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Ser126=)" "" "0000266467" "00004299" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Gln127=)" "" "0000266468" "00004299" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Arg162Gly)" "" "0000266469" "00004299" "30" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Thr20=)" "" "0000266470" "00004299" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0000266471" "00004299" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Tyr324=)" "" "0000269697" "00004299" "50" "1068" "0" "1069" "0" "c.1068_1069del" "r.(?)" "p.(Glu357GlyfsTer12)" "" "0000269699" "00004299" "30" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "" "0000269700" "00004299" "30" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Thr20=)" "" "0000269701" "00004299" "10" "678" "19" "678" "19" "c.678+19C>G" "r.(=)" "p.(=)" "" "0000269702" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000269703" "00004299" "10" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0000272554" "00004299" "50" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" "p.(=)" "" "0000272556" "00004299" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ser53=)" "" "0000272557" "00004299" "10" "193" "17" "193" "17" "c.193+17G>A" "r.(=)" "p.(=)" "" "0000272558" "00004299" "30" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "" "0000272559" "00004299" "30" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Ile11Val)" "" "0000272560" "00004299" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Gln127=)" "" "0000272561" "00004299" "10" "397" "10" "397" "10" "c.397+10C>T" "r.(=)" "p.(=)" "" "0000272562" "00004299" "10" "397" "24" "397" "24" "c.397+24A>G" "r.(=)" "p.(=)" "" "0000272563" "00004299" "10" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ile161=)" "" "0000272565" "00004299" "50" "520" "0" "520" "0" "c.520C>A" "r.(?)" "p.(Leu174Ile)" "" "0000272566" "00004299" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Tyr198=)" "" "0000272567" "00004299" "30" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Thr20=)" "" "0000272568" "00004299" "10" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Asp234=)" "" "0000272569" "00004299" "50" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Gln24=)" "" "0000272570" "00004299" "30" "786" "23" "786" "23" "c.786+23G>A" "r.(=)" "p.(=)" "" "0000272571" "00004299" "10" "786" "28" "786" "28" "c.786+28G>A" "r.(=)" "p.(=)" "" "0000272572" "00004299" "10" "787" "-23" "787" "-23" "c.787-23C>T" "r.(=)" "p.(=)" "" "0000272573" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000272574" "00004299" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(His277=)" "" "0000272575" "00004299" "10" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0000272576" "00004299" "10" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0000272577" "00004299" "30" "918" "16" "918" "16" "c.918+16C>T" "r.(=)" "p.(=)" "" "0000272578" "00004299" "10" "918" "67" "918" "71" "c.918+67_918+71del" "r.(=)" "p.(=)" "" "0000272579" "00004299" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Tyr324=)" "" "0000368281" "00004299" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Gln7His)" "1" "0000368282" "00004299" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Gln7His)" "1" "0000368284" "00004299" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Gln7His)" "1" "0000368288" "00004299" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Gln7His)" "1" "0000368289" "00004299" "50" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Ile11Val)" "1" "0000368296" "00004299" "50" "31" "0" "31" "0" "c.31A>C" "r.(?)" "p.(Ile11Leu)" "1" "0000368297" "00004299" "50" "31" "0" "31" "0" "c.31A>C" "r.(?)" "p.(Ile11Leu)" "1" "0000368299" "00004299" "50" "31" "0" "31" "0" "c.31A>C" "r.(?)" "p.(Ile11Leu)" "1" "0000368302" "00004299" "50" "67" "0" "67" "0" "c.67T>A" "r.(?)" "p.(Phe23Ile)" "1" "0000368303" "00004299" "50" "72" "0" "72" "0" "c.72A>G" "r.spl?" "p.(Gln24=)" "1" "0000368304" "00004299" "50" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Arg50*)" "2" "0000368306" "00004299" "50" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Arg50*)" "2" "0000368307" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368308" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368310" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368311" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368313" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368314" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368315" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000368316" "00004299" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Ile136Thr)" "4" "0000368317" "00004299" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Ile136Thr)" "4" "0000368318" "00004299" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Arg162Gly)" "4" "0000368320" "00004299" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Arg162Gly)" "4" "0000368322" "00004299" "50" "520" "0" "520" "0" "c.520C>A" "r.(?)" "p.(Leu174Ile)" "5" "0000368324" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368325" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368327" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368328" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368330" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368333" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368336" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368338" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368339" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368342" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368344" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368346" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368348" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368351" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368353" "00004299" "70" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368355" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368357" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189Serfs*8)" "5" "0000368358" "00004299" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Thr209Met)" "5" "0000368362" "00004299" "50" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Glu268Lysfs*13)" "7" "0000368364" "00004299" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "7" "0000368366" "00004299" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "7" "0000368367" "00004299" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Thr287Met)" "7" "0000368368" "00004299" "50" "1068" "0" "1069" "0" "c.1068_1069del" "r.(?)" "p.(Glu357Glyfs*12)" "9" "0000368369" "00004299" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Trp)" "9" "0000368384" "00004299" "70" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "3" "0000368385" "00004299" "90" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73Gln)" "3" "0000566455" "00004299" "10" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asn369=)" "" "0000566456" "00004299" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Ser365=)" "" "0000566457" "00004299" "10" "1067" "0" "1067" "0" "c.1067G>T" "r.(?)" "p.(Arg356Leu)" "" "0000566458" "00004299" "10" "1067" "0" "1067" "0" "c.1067G>T" "r.(?)" "p.(Arg356Leu)" "" "0000566459" "00004299" "10" "1067" "0" "1067" "0" "c.1067G>T" "r.(?)" "p.(Arg356Leu)" "" "0000566461" "00004299" "10" "1012" "-9" "1012" "-9" "c.1012-9T>C" "r.(=)" "p.(=)" "" "0000566462" "00004299" "10" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0000566463" "00004299" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Thr287Met)" "" "0000566464" "00004299" "30" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Ile)" "" "0000566465" "00004299" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000566466" "00004299" "30" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000566467" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000566468" "00004299" "30" "738" "0" "738" "0" "c.738C>A" "r.(?)" "p.(Asp246Glu)" "" "0000566469" "00004299" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Asp242Asn)" "" "0000566471" "00004299" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Gln189SerfsTer8)" "" "0000566472" "00004299" "10" "492" "9" "492" "9" "c.492+9T>C" "r.(=)" "p.(=)" "" "0000566473" "00004299" "10" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ile161=)" "" "0000566474" "00004299" "30" "443" "0" "444" "0" "c.443_444insTGCC" "r.(?)" "p.(Leu148PhefsTer7)" "" "0000566475" "00004299" "50" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Asp140Tyr)" "" "0000566476" "00004299" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Ile136Thr)" "" "0000566477" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "" "0000566478" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "" "0000566479" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "" "0000566480" "00004299" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "" "0000566481" "00004299" "10" "398" "-6" "398" "-6" "c.398-6T>C" "r.(=)" "p.(=)" "" "0000566482" "00004299" "10" "398" "-6" "398" "-6" "c.398-6T>C" "r.(=)" "p.(=)" "" "0000566483" "00004299" "10" "397" "24" "397" "24" "c.397+24A>G" "r.(=)" "p.(=)" "" "0000566484" "00004299" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Gln127=)" "" "0000566485" "00004299" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Gly107=)" "" "0000566486" "00004299" "50" "217" "0" "217" "0" "c.217C>G" "r.(?)" "p.(Arg73Gly)" "" "0000566487" "00004299" "30" "217" "0" "217" "0" "c.217C>G" "r.(?)" "p.(Arg73Gly)" "" "0000566488" "00004299" "30" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Lys55Glu)" "" "0000566489" "00004299" "50" "154" "0" "154" "0" "c.154dup" "r.(?)" "p.(Ser52PhefsTer9)" "" "0000566490" "00004299" "10" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "" "0000566491" "00004299" "30" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "" "0000566492" "00004299" "30" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "" "0000566493" "00004299" "30" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "" "0000566494" "00004299" "10" "91" "29" "91" "29" "c.91+29G>A" "r.(=)" "p.(=)" "" "0000617431" "00004299" "30" "1088" "0" "1088" "0" "c.1088T>A" "r.(?)" "p.(Leu363Gln)" "" "0000617432" "00004299" "30" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(Glu360=)" "" "0000617433" "00004299" "30" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Cys)" "" "0000617434" "00004299" "30" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "" "0000617435" "00004299" "50" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Tyr182Cys)" "" "0000617436" "00004299" "50" "520" "0" "520" "0" "c.520C>A" "r.(?)" "p.(Leu174Ile)" "" "0000617437" "00004299" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Pro134=)" "" "0000617438" "00004299" "10" "398" "-4" "398" "-4" "c.398-4G>A" "r.spl?" "p.?" "" "0000617439" "00004299" "30" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Lys82Arg)" "" "0000617440" "00004299" "10" "193" "17" "193" "17" "c.193+17G>A" "r.(=)" "p.(=)" "" "0000617441" "00004299" "30" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Thr20=)" "" "0000649917" "00004299" "10" "861" "0" "861" "0" "c.861G>A" "r.(=)" "p.(=)" "" "0000649918" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000658518" "00004299" "50" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Cys)" "" "0000669464" "00004299" "10" "861" "0" "861" "0" "c.861G>A" "r.(=)" "p.(=)" "" "0000669465" "00004299" "10" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000681323" "00004299" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0000681324" "00004299" "30" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Ile)" "" "0000681325" "00004299" "30" "96" "0" "96" "0" "c.96T>C" "r.(?)" "p.(His32=)" "" "0000709013" "00004299" "90" "387" "0" "387" "0" "c.387dup" "r.(?)" "p.(Ile130Tyrfs*11)" "" "0000727191" "00004299" "50" "1068" "0" "1069" "0" "c.1068_1069del" "r.(?)" "p.(Glu357GlyfsTer12)" "" "0000727192" "00004299" "30" "39" "0" "39" "0" "c.39G>T" "r.(?)" "p.(Met13Ile)" "" "0000808745" "00004299" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Glu335Lys)" "" "0000808746" "00004299" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000808747" "00004299" "10" "771" "0" "771" "0" "c.771G>A" "r.(?)" "p.(Gln257=)" "" "0000808748" "00004299" "10" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ile161=)" "" "0000808749" "00004299" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Leu)" "" "0000855471" "00004299" "50" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Gly264Val)" "" "0000855472" "00004299" "10" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Ser126=)" "" "0000894845" "00004299" "50" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "" "0000894846" "00004299" "50" "520" "0" "520" "0" "c.520C>A" "r.(?)" "p.(Leu174Ile)" "" "0000894847" "00004299" "50" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Asp140Tyr)" "" "0000915156" "00004299" "10" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ser53=)" "" "0000926836" "00004299" "10" "-5" "0" "-5" "0" "c.-5C>T" "r.(?)" "p.(=)" "" "0000926837" "00004299" "10" "-6" "0" "-6" "0" "c.-6A>T" "r.(?)" "p.(=)" "" "0000951241" "00004299" "10" "91" "17" "91" "17" "c.91+17C>A" "r.(=)" "p.(=)" "" "0000969607" "00004299" "50" "787" "-3" "787" "-3" "c.787-3C>G" "r.spl?" "p.?" "" "0000969608" "00004299" "10" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(=)" "" "0001015759" "00004299" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Glu372Gln)" "" "0001015760" "00004299" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(=)" "" "0001015761" "00004299" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(His277=)" "" "0001015762" "00004299" "50" "820" "0" "820" "0" "c.820G>C" "r.(?)" "p.(Val274Leu)" "" "0001027186" "00004299" "50" "1078" "0" "1078" "0" "c.1078G>T" "r.(?)" "p.(Glu360*)" "" "0001027187" "00004299" "30" "801" "0" "801" "0" "c.801A>C" "r.(?)" "p.(=)" "" "0001027188" "00004299" "50" "732" "0" "732" "0" "c.732dup" "r.(?)" "p.(Gly245Argfs*2)" "" "0001027189" "00004299" "50" "31" "0" "31" "0" "c.31A>C" "r.(?)" "p.(Ile11Leu)" "" "0001042742" "00004299" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(=)" "" "0001042743" "00004299" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0001042744" "00004299" "10" "193" "15" "193" "16" "c.193+15_193+16del" "r.(=)" "p.(=)" "" "0001042745" "00004299" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Gln7His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000129311" "0000218476" "0000164721" "0000368281" "0000164722" "0000368282" "0000164723" "0000368284" "0000164724" "0000368288" "0000164725" "0000368289" "0000164726" "0000368296" "0000164727" "0000368297" "0000164728" "0000368299" "0000164729" "0000368302" "0000164730" "0000368303" "0000164731" "0000368304" "0000164732" "0000368306" "0000164733" "0000368307" "0000164734" "0000368308" "0000164735" "0000368310" "0000164736" "0000368311" "0000164737" "0000368313" "0000164738" "0000368314" "0000164739" "0000368315" "0000164740" "0000368316" "0000164741" "0000368317" "0000164742" "0000368318" "0000164743" "0000368320" "0000164744" "0000368322" "0000164745" "0000368324" "0000164746" "0000368325" "0000164747" "0000368327" "0000164748" "0000368328" "0000164749" "0000368330" "0000164750" "0000368333" "0000164751" "0000368336" "0000164752" "0000368338" "0000164753" "0000368339" "0000164754" "0000368342" "0000164755" "0000368344" "0000164756" "0000368346" "0000164757" "0000368348" "0000164758" "0000368351" "0000164759" "0000368353" "0000164760" "0000368355" "0000164761" "0000368357" "0000164762" "0000368358" "0000164763" "0000368362" "0000164764" "0000368364" "0000164765" "0000368366" "0000164766" "0000368367" "0000164767" "0000368368" "0000164768" "0000368369" "0000164782" "0000368384" "0000164783" "0000368385" "0000293228" "0000649917" "0000293229" "0000649918" "0000305776" "0000669464" "0000305777" "0000669465" "0000325859" "0000709013"