### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CSRP3) # 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}}" "CSRP3" "cysteine and glycine-rich protein 3 (cardiac LIM protein)" "11" "p15.1" "unknown" "LRG_440" "UD_134408512355" "" "http://www.LOVD.nl/CSRP3" "" "1" "2472" "8048" "600824" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CSRP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 18:46:45" "00000" "2025-11-25 15:12:04" ## 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}}" "00005780" "CSRP3" "cysteine and glycine-rich protein 3 (cardiac LIM protein)" "001" "NM_003476.4" "" "NP_003467.1" "" "" "" "-239" "1225" "585" "19232118" "19203577" "" "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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "02663" "CMD1M" "cardiomyopathy, dilated, type 1M (CMD-1M)" "" "607482" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03091" "CMH12" "cardiomyopathy, hypertrophic, familial, type 12 (CMH-12)" "AD" "612124" "" "" "" "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" "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 = 2 "{{geneid}}" "{{diseaseid}}" "CSRP3" "02663" "CSRP3" "03091" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00064088" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064144" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064153" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064183" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064209" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064265" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064718" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "45y" "0" "" "" "" "" "00128366" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "34" "00183454" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "?" "" "" "0" "" "" "" "Patient XVI" "00290333" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290334" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290335" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290336" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296703" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "white" "NCG_00061" "00316223" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316224" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317088" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317089" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317090" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317091" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317092" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317093" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317094" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317095" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317718" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317719" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317720" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317721" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00453169" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam53Pat97" "00453170" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam308Pat332" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00064088" "00351" "00064144" "00351" "00064153" "00351" "00064183" "00351" "00064209" "00351" "00064265" "00351" "00064718" "05166" "00128366" "00198" "00183454" "00244" "00290333" "00198" "00290334" "00198" "00290335" "00198" "00290336" "00198" "00296703" "00198" "00316223" "04172" "00316224" "04172" "00317088" "04172" "00317089" "04172" "00317090" "04172" "00317091" "04172" "00317092" "04172" "00317093" "04172" "00317094" "04172" "00317095" "04172" "00317718" "04172" "00317719" "04172" "00317720" "04172" "00317721" "04172" "00453169" "04172" "00453170" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00351, 02663, 03091, 04172, 05166 ## Count = 26 "{{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}}" "0000050604" "00351" "00064088" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050660" "00351" "00064144" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050669" "00351" "00064153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050699" "00351" "00064183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050725" "00351" "00064209" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050781" "00351" "00064265" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053245" "05166" "00064718" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100583" "00198" "00128366" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000171334" "00244" "00183454" "00006" "Unknown" "" "onset young adult, limb-girdle weakness, proximal and axial muscle weakness, elevated CPK (15x); biopsy dystrophic features, neurogenic and myofibrillar damage; dilated cardiomyopathy" "" "" "limb-girdle weakness" "partial alphaDG reduction" "" "" "" "" "" "myopathy" "" "0000224103" "00198" "00296703" "00006" "Unknown" "42y" "hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000239969" "04172" "00316223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239970" "04172" "00316224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240834" "04172" "00317088" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240835" "04172" "00317089" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240836" "04172" "00317090" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240837" "04172" "00317091" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240838" "04172" "00317092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240839" "04172" "00317093" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240840" "04172" "00317094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240841" "04172" "00317095" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241464" "04172" "00317718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241465" "04172" "00317719" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241466" "04172" "00317720" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241467" "04172" "00317721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000341815" "04172" "00453169" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341816" "04172" "00453170" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064221" "00064088" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064277" "00064144" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064286" "00064153" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064316" "00064183" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064342" "00064209" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064398" "00064265" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064857" "00064718" "1" "01601" "01601" "2016-05-10 11:55:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000128833" "00128366" "1" "02244" "02244" "2017-09-15 14:24:24" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000184422" "00183454" "1" "02947" "02947" "2018-10-25 15:28:02" "" "" "arrayCGH" "DNA" "" "" "0000291501" "00290333" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291502" "00290334" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291503" "00290335" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291504" "00290336" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297813" "00296703" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317405" "00316223" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317406" "00316224" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318270" "00317088" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318271" "00317089" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318272" "00317090" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318273" "00317091" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318274" "00317092" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318275" "00317093" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318276" "00317094" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318277" "00317095" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318900" "00317718" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318901" "00317719" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318902" "00317720" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318903" "00317721" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000454780" "00453169" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454781" "00453170" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000064221" "TTN" "0000064277" "TTN" "0000064286" "TTN" "0000064316" "TTN" "0000064342" "TTN" "0000064398" "CSRP3" "0000297813" "CSRP3" "0000317405" "CSRP3" "0000317406" "CSRP3" "0000318270" "CSRP3" "0000318271" "CSRP3" "0000318272" "CSRP3" "0000318273" "CSRP3" "0000318274" "CSRP3" "0000318275" "CSRP3" "0000318276" "CSRP3" "0000318277" "CSRP3" "0000318900" "CSRP3" "0000318901" "CSRP3" "0000318902" "CSRP3" "0000318903" "CSRP3" ## 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 = 196 "{{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}}" "0000095260" "0" "50" "11" "19206558" "19206558" "subst" "1.21864E-5" "00006" "CSRP3_000037" "g.19206558C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127656:c.G449A" "" "Germline" "" "" "0" "" "" "g.19185011C>T" "" "VUS" "" "0000095472" "0" "50" "11" "19213986" "19213986" "subst" "0.0021736" "00006" "CSRP3_000035" "g.19213986A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127656:c.T10C" "" "Germline" "" "" "0" "" "" "g.19192439A>G" "" "VUS" "" "0000095498" "0" "50" "11" "19206593" "19206593" "subst" "4.06385E-6" "00006" "CSRP3_000038" "g.19206593C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_003476:c.415-1G>T" "" "Germline" "" "" "0" "" "" "g.19185046C>A" "" "VUS" "" "0000095608" "0" "50" "11" "19213986" "19213986" "subst" "0.0021736" "00006" "CSRP3_000035" "g.19213986A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127656:c.T10C" "" "Germline" "" "" "0" "" "" "g.19192439A>G" "" "VUS" "" "0000095689" "0" "50" "11" "19213986" "19213986" "subst" "0.0021736" "00006" "CSRP3_000035" "g.19213986A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127656:c.T10C" "" "Germline" "" "" "0" "" "" "g.19192439A>G" "" "VUS" "" "0000095790" "1" "50" "11" "19206558" "19206558" "subst" "1.21864E-5" "00006" "CSRP3_000037" "g.19206558C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127656:c.G449A" "" "Germline" "" "" "0" "" "" "g.19185011C>T" "" "VUS" "" "0000096509" "0" "50" "11" "19207878" "19207878" "subst" "0.00120677" "01601" "CSRP3_000024" "g.19207878C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19186331C>T" "" "VUS" "" "0000217964" "0" "50" "11" "19207878" "19207878" "subst" "0.00120677" "02244" "CSRP3_000024" "g.19207878C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.19186331C>T" "" "VUS" "" "0000246986" "0" "10" "11" "19213986" "19213986" "subst" "0.0021736" "02330" "CSRP3_000035" "g.19213986A>G" "" "" "" "CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192439A>G" "" "benign" "" "0000247029" "0" "10" "11" "19206490" "19206490" "subst" "0.000105622" "02330" "CSRP3_000048" "g.19206490A>G" "" "" "" "CSRP3(NM_003476.5):c.508+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19184943A>G" "" "benign" "" "0000247061" "0" "50" "11" "19207810" "19207810" "subst" "0" "02330" "CSRP3_000054" "g.19207810A>G" "" "" "" "CSRP3(NM_003476.5):c.367T>C (p.C123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186263A>G" "" "VUS" "" "0000247062" "0" "50" "11" "19213923" "19213923" "subst" "0" "02330" "CSRP3_000044" "g.19213923A>G" "" "" "" "CSRP3(NM_003476.5):c.73T>C (p.C25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192376A>G" "" "VUS" "" "0000247065" "0" "50" "11" "19204288" "19204288" "subst" "0" "02330" "CSRP3_000046" "g.19204288A>G" "" "" "" "CSRP3(NM_003476.5):c.514T>C (p.Y172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182741A>G" "" "VUS" "" "0000248136" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "02325" "CSRP3_000043" "g.19209833A>G" "" "" "" "CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188286A>G" "" "likely pathogenic" "" "0000248266" "0" "30" "11" "19213986" "19213986" "subst" "0.0021736" "02325" "CSRP3_000035" "g.19213986A>G" "" "" "" "CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192439A>G" "" "likely benign" "" "0000249777" "0" "50" "11" "19207776" "19207776" "subst" "0" "02325" "CSRP3_000053" "g.19207776A>T" "" "" "" "CSRP3(NM_003476.5):c.401T>A (p.M134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186229A>T" "" "VUS" "" "0000250827" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "02326" "CSRP3_000043" "g.19209833A>G" "" "" "" "CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188286A>G" "" "likely pathogenic" "" "0000251712" "0" "30" "11" "19213986" "19213986" "subst" "0.0021736" "02326" "CSRP3_000035" "g.19213986A>G" "" "" "" "CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192439A>G" "" "likely benign" "" "0000253847" "0" "10" "11" "19209658" "19209658" "subst" "0.000493716" "01943" "CSRP3_000065" "g.19209658A>C" "" "" "" "CSRP3(NM_003476.3):c.281+25T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188111A>C" "" "benign" "" "0000255382" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "01943" "CSRP3_000043" "g.19209833A>G" "" "" "" "CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188286A>G" "" "likely pathogenic" "" "0000265048" "0" "50" "11" "19209803" "19209803" "subst" "1.22028E-5" "02330" "CSRP3_000071" "g.19209803G>A" "" "" "" "CSRP3(NM_003476.5):c.161C>T (p.S54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188256G>A" "" "VUS" "" "0000265049" "0" "10" "11" "19209802" "19209802" "subst" "0.000207427" "02330" "CSRP3_000070" "g.19209802C>T" "" "" "" "CSRP3(NM_003476.3):c.162G>A (p.S54=), CSRP3(NM_003476.5):c.162G>A (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188255C>T" "" "benign" "" "0000265050" "0" "50" "11" "19207895" "19207903" "del" "0" "02330" "CSRP3_000063" "g.19207895_19207903del" "" "" "" "CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186348_19186356del" "" "VUS" "" "0000265051" "0" "50" "11" "19207892" "19207893" "del" "0" "02330" "CSRP3_000062" "g.19207892_19207893del" "" "" "" "CSRP3(NM_003476.3):c.286_287delCC (p.P96Kfs*35), CSRP3(NM_003476.5):c.286_287delCC (p.P96Kfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186345_19186346del" "" "VUS" "" "0000265052" "0" "50" "11" "19207886" "19207886" "subst" "0" "02330" "CSRP3_000061" "g.19207886C>G" "" "" "" "CSRP3(NM_003476.5):c.291G>C (p.K97N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186339C>G" "" "VUS" "" "0000265053" "0" "10" "11" "19207865" "19207865" "subst" "0.00361203" "02330" "CSRP3_000059" "g.19207865G>C" "" "" "" "CSRP3(NM_001369404.1):c.143C>G (p.(Pro48Arg)), CSRP3(NM_003476.5):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186318G>C" "" "benign" "" "0000265054" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "02330" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186294C>T" "" "benign" "" "0000265055" "0" "50" "11" "19207833" "19207833" "subst" "4.06303E-6" "02330" "CSRP3_000057" "g.19207833C>T" "" "" "" "CSRP3(NM_003476.5):c.344G>A (p.G115E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186286C>T" "" "VUS" "" "0000265056" "0" "50" "11" "19207825" "19207825" "subst" "2.43789E-5" "02330" "CSRP3_000056" "g.19207825C>T" "" "" "" "CSRP3(NM_003476.5):c.352G>A (p.E118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186278C>T" "" "VUS" "" "0000265057" "0" "50" "11" "19206570" "19206570" "subst" "2.4376E-5" "02330" "CSRP3_000051" "g.19206570C>T" "" "" "" "CSRP3(NM_003476.5):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19185023C>T" "" "VUS" "" "0000265058" "0" "50" "11" "19206535" "19206535" "subst" "8.12348E-6" "02330" "CSRP3_000050" "g.19206535T>C" "" "" "" "CSRP3(NM_003476.3):c.472A>G (p.N158D), CSRP3(NM_003476.5):c.472A>G (p.N158D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19184988T>C" "" "VUS" "" "0000265059" "0" "10" "11" "19204313" "19204313" "subst" "0" "02330" "CSRP3_000047" "g.19204313G>T" "" "" "" "CSRP3(NM_003476.3):c.509-20C>A, CSRP3(NM_003476.5):c.509-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182766G>T" "" "benign" "" "0000267150" "0" "50" "11" "19209762" "19209762" "subst" "0" "02325" "CSRP3_000069" "g.19209762G>C" "" "" "" "CSRP3(NM_003476.5):c.202C>G (p.P68A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188215G>C" "" "VUS" "" "0000267151" "0" "50" "11" "19209756" "19209756" "subst" "3.25108E-5" "02325" "CSRP3_000045" "g.19209756C>A" "" "" "" "CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188209C>A" "" "VUS" "" "0000267152" "0" "50" "11" "19207895" "19207903" "del" "0" "02325" "CSRP3_000064" "g.19207895_19207903del" "" "" "" "CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186348_19186356del" "" "VUS" "" "0000267153" "0" "30" "11" "19207865" "19207865" "subst" "0.00361203" "02325" "CSRP3_000059" "g.19207865G>C" "" "" "" "CSRP3(NM_001369404.1):c.143C>G (p.(Pro48Arg)), CSRP3(NM_003476.5):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186318G>C" "" "likely benign" "" "0000267154" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "02325" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186294C>T" "" "benign" "" "0000267155" "0" "50" "11" "19207812" "19207812" "subst" "1.21895E-5" "02325" "CSRP3_000055" "g.19207812C>T" "" "" "" "CSRP3(NM_003476.3):c.365G>A (p.R122Q), CSRP3(NM_003476.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186265C>T" "" "VUS" "" "0000267156" "0" "50" "11" "19206571" "19206571" "subst" "1.21883E-5" "02325" "CSRP3_000052" "g.19206571G>A" "" "" "" "CSRP3(NM_003476.3):c.436C>T (p.R146C), CSRP3(NM_003476.5):c.436C>T (p.(Arg146Cys), p.R146C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19185024G>A" "" "VUS" "" "0000267157" "0" "50" "11" "19206570" "19206570" "subst" "2.4376E-5" "02325" "CSRP3_000051" "g.19206570C>T" "" "" "" "CSRP3(NM_003476.5):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19185023C>T" "" "VUS" "" "0000267158" "0" "50" "11" "19206510" "19206516" "del" "0" "02325" "CSRP3_000049" "g.19206510_19206516del" "" "" "" "CSRP3(NM_003476.5):c.491_497delGGGAACT (p.G164Vfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19184963_19184969del" "" "VUS" "" "0000267159" "0" "30" "11" "19204264" "19204264" "subst" "0.000138105" "02325" "CSRP3_000042" "g.19204264C>A" "" "" "" "CSRP3(NM_003476.5):c.538G>T (p.G180C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182717C>A" "" "likely benign" "" "0000267160" "0" "50" "11" "19213911" "19213911" "subst" "0" "02325" "CSRP3_000074" "g.19213911T>C" "" "" "" "CSRP3(NM_003476.5):c.85A>G (p.S29G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192364T>C" "" "VUS" "" "0000267161" "0" "50" "11" "19213898" "19213898" "subst" "1.21861E-5" "02325" "CSRP3_000072" "g.19213898G>A" "" "" "" "CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192351G>A" "" "VUS" "" "0000270609" "0" "30" "11" "19209700" "19209700" "subst" "3.6608E-5" "02326" "CSRP3_000066" "g.19209700G>T" "" "" "" "CSRP3(NM_003476.3):c.264C>A (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188153G>T" "" "likely benign" "" "0000270610" "0" "50" "11" "19207892" "19207893" "del" "0" "02326" "CSRP3_000062" "g.19207892_19207893del" "" "" "" "CSRP3(NM_003476.3):c.286_287delCC (p.P96Kfs*35), CSRP3(NM_003476.5):c.286_287delCC (p.P96Kfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186345_19186346del" "" "VUS" "" "0000270611" "0" "50" "11" "19207812" "19207812" "subst" "1.21895E-5" "02326" "CSRP3_000055" "g.19207812C>T" "" "" "" "CSRP3(NM_003476.3):c.365G>A (p.R122Q), CSRP3(NM_003476.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186265C>T" "" "VUS" "" "0000274503" "0" "50" "11" "19204206" "19204206" "subst" "0" "01943" "CSRP3_000039" "g.19204206G>A" "" "" "" "CSRP3(NM_003476.3):c.*11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182659G>A" "" "VUS" "" "0000274504" "0" "50" "11" "19204209" "19204209" "subst" "0" "01943" "CSRP3_000040" "g.19204209G>T" "" "" "" "CSRP3(NM_003476.3):c.*8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182662G>T" "" "VUS" "" "0000274505" "0" "30" "11" "19209748" "19209748" "subst" "1.62561E-5" "01943" "CSRP3_000068" "g.19209748C>T" "" "" "" "CSRP3(NM_003476.3):c.216G>A (p.G72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188201C>T" "" "likely benign" "" "0000274506" "0" "50" "11" "19209735" "19209735" "subst" "2.03232E-5" "01943" "CSRP3_000067" "g.19209735C>T" "" "" "" "CSRP3(NM_003476.3):c.229G>A (p.A77T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188188C>T" "" "VUS" "" "0000274507" "0" "30" "11" "19207883" "19207883" "subst" "3.25066E-5" "01943" "CSRP3_000060" "g.19207883C>T" "" "" "" "CSRP3(NM_003476.3):c.294G>A (p.P98=), CSRP3(NM_003476.5):c.294G>A (p.P98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186336C>T" "" "likely benign" "" "0000274508" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "01943" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19186294C>T" "" "benign" "" "0000274509" "0" "50" "11" "19206535" "19206535" "subst" "8.12348E-6" "01943" "CSRP3_000050" "g.19206535T>C" "" "" "" "CSRP3(NM_003476.3):c.472A>G (p.N158D), CSRP3(NM_003476.5):c.472A>G (p.N158D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19184988T>C" "" "VUS" "" "0000274510" "0" "30" "11" "19204234" "19204234" "subst" "6.09211E-5" "01943" "CSRP3_000041" "g.19204234C>A" "" "" "" "CSRP3(NM_003476.3):c.568G>T (p.V190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19182687C>A" "" "likely benign" "" "0000274511" "0" "30" "11" "19213906" "19213906" "subst" "8.12361E-6" "01943" "CSRP3_000073" "g.19213906G>A" "" "" "" "CSRP3(NM_003476.3):c.90C>T (p.F30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19192359G>A" "" "likely benign" "" "0000346235" "0" "50" "11" "19209756" "19209756" "subst" "3.25108E-5" "02327" "CSRP3_000045" "g.19209756C>A" "" "" "" "CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19188209C>A" "" "VUS" "" "0000408467" "0" "90" "11" "19213867" "19213883" "del" "0" "02947" "CSRP3_000076" "g.(19209852_19213883)_(19213867_19220000)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.18536283_19213867del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000543355" "0" "30" "11" "19203972" "19203972" "subst" "0" "02327" "CSRP3_000077" "g.19203972A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182425A>G" "" "likely benign" "" "0000543356" "0" "30" "11" "19204134" "19204134" "subst" "0" "02327" "CSRP3_000078" "g.19204134A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182587A>C" "" "likely benign" "" "0000543357" "0" "10" "11" "19204205" "19204205" "subst" "0.000373592" "01943" "CSRP3_000079" "g.19204205C>T" "" "" "" "CSRP3(NM_001369404.1):c.428G>A (p.R143H), CSRP3(NM_003476.3):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182658C>T" "" "benign" "" "0000543359" "0" "50" "11" "19204267" "19204267" "subst" "1.6247E-5" "02330" "CSRP3_000080" "g.19204267T>C" "" "" "" "CSRP3(NM_003476.5):c.535A>G (p.T179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182720T>C" "" "VUS" "" "0000543360" "0" "50" "11" "19204267" "19204267" "subst" "1.6247E-5" "02327" "CSRP3_000080" "g.19204267T>C" "" "" "" "CSRP3(NM_003476.5):c.535A>G (p.T179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182720T>C" "" "VUS" "" "0000543361" "0" "50" "11" "19204288" "19204288" "subst" "0" "02327" "CSRP3_000046" "g.19204288A>G" "" "" "" "CSRP3(NM_003476.5):c.514T>C (p.Y172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182741A>G" "" "VUS" "" "0000543362" "0" "10" "11" "19204289" "19204289" "subst" "2.4375E-5" "02330" "CSRP3_000081" "g.19204289G>A" "" "" "" "CSRP3(NM_003476.5):c.513C>T (p.C171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182742G>A" "" "benign" "" "0000543363" "0" "10" "11" "19206481" "19206481" "subst" "0.000857403" "02330" "CSRP3_000082" "g.19206481G>A" "" "" "" "CSRP3(NM_003476.3):c.508+18C>T, CSRP3(NM_003476.5):c.508+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19184934G>A" "" "benign" "" "0000543364" "0" "10" "11" "19206481" "19206481" "subst" "0.000857403" "01943" "CSRP3_000082" "g.19206481G>A" "" "" "" "CSRP3(NM_003476.3):c.508+18C>T, CSRP3(NM_003476.5):c.508+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19184934G>A" "" "benign" "" "0000543365" "0" "10" "11" "19206563" "19206563" "subst" "0" "02330" "CSRP3_000083" "g.19206563G>A" "" "" "" "CSRP3(NM_003476.5):c.444C>T (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19185016G>A" "" "benign" "" "0000543366" "0" "50" "11" "19206570" "19206570" "subst" "2.4376E-5" "02327" "CSRP3_000051" "g.19206570C>T" "" "" "" "CSRP3(NM_003476.5):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19185023C>T" "" "VUS" "" "0000543367" "0" "10" "11" "19206622" "19206622" "subst" "0.00345072" "01943" "CSRP3_000084" "g.19206622A>G" "" "" "" "CSRP3(NM_003476.3):c.415-30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19185075A>G" "" "benign" "" "0000543368" "0" "30" "11" "19206622" "19206622" "subst" "0.00345072" "02327" "CSRP3_000084" "g.19206622A>G" "" "" "" "CSRP3(NM_003476.3):c.415-30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19185075A>G" "" "likely benign" "" "0000543369" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "02330" "CSRP3_000085" "g.19207798C>T" "" "" "" "CSRP3(NM_003476.3):c.379G>A (p.V127I), CSRP3(NM_003476.5):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186251C>T" "" "VUS" "" "0000543370" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "02327" "CSRP3_000085" "g.19207798C>T" "" "" "" "CSRP3(NM_003476.3):c.379G>A (p.V127I), CSRP3(NM_003476.5):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186251C>T" "" "VUS" "" "0000543371" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "02325" "CSRP3_000085" "g.19207798C>T" "" "" "" "CSRP3(NM_003476.3):c.379G>A (p.V127I), CSRP3(NM_003476.5):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186251C>T" "" "VUS" "" "0000543372" "0" "50" "11" "19207800" "19207800" "subst" "0" "02330" "CSRP3_000086" "g.19207800G>A" "" "" "" "CSRP3(NM_003476.5):c.377C>T (p.S126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186253G>A" "" "VUS" "" "0000543373" "0" "50" "11" "19207812" "19207812" "subst" "1.21895E-5" "02327" "CSRP3_000055" "g.19207812C>T" "" "" "" "CSRP3(NM_003476.3):c.365G>A (p.R122Q), CSRP3(NM_003476.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186265C>T" "" "VUS" "" "0000543374" "0" "50" "11" "19207820" "19207820" "subst" "0" "02326" "CSRP3_000087" "g.19207820C>A" "" "" "" "CSRP3(NM_003476.3):c.357G>T (p.K119N), CSRP3(NM_003476.5):c.357G>T (p.K119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186273C>A" "" "VUS" "" "0000543375" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "02327" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186294C>T" "" "benign" "" "0000543376" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "02326" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186294C>T" "" "benign" "" "0000543377" "0" "10" "11" "19207865" "19207865" "subst" "0.00361203" "02327" "CSRP3_000059" "g.19207865G>C" "" "" "" "CSRP3(NM_001369404.1):c.143C>G (p.(Pro48Arg)), CSRP3(NM_003476.5):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186318G>C" "" "benign" "" "0000543378" "0" "30" "11" "19207868" "19207868" "subst" "4.06293E-6" "02327" "CSRP3_000088" "g.19207868G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186321G>A" "" "likely benign" "" "0000543379" "0" "10" "11" "19207878" "19207878" "subst" "0.00120677" "02330" "CSRP3_000024" "g.19207878C>T" "" "" "" "CSRP3(NM_003476.3):c.299G>A (p.R100H), CSRP3(NM_003476.5):c.299G>A (p.R100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186331C>T" "" "benign" "" "0000543380" "0" "50" "11" "19207878" "19207878" "subst" "0.00120677" "01943" "CSRP3_000024" "g.19207878C>T" "" "" "" "CSRP3(NM_003476.3):c.299G>A (p.R100H), CSRP3(NM_003476.5):c.299G>A (p.R100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186331C>T" "" "VUS" "" "0000543381" "0" "30" "11" "19207878" "19207878" "subst" "0.00120677" "02325" "CSRP3_000024" "g.19207878C>T" "" "" "" "CSRP3(NM_003476.3):c.299G>A (p.R100H), CSRP3(NM_003476.5):c.299G>A (p.R100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186331C>T" "" "likely benign" "" "0000543382" "0" "30" "11" "19207883" "19207883" "subst" "3.25066E-5" "02327" "CSRP3_000060" "g.19207883C>T" "" "" "" "CSRP3(NM_003476.3):c.294G>A (p.P98=), CSRP3(NM_003476.5):c.294G>A (p.P98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186336C>T" "" "likely benign" "" "0000543383" "0" "50" "11" "19207893" "19207893" "subst" "0" "02326" "CSRP3_000089" "g.19207893G>C" "" "" "" "CSRP3(NM_003476.3):c.284C>G (p.S95C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186346G>C" "" "VUS" "" "0000543384" "0" "50" "11" "19207895" "19207903" "del" "0" "01943" "CSRP3_000063" "g.19207895_19207903del" "" "" "" "CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186348_19186356del" "" "VUS" "" "0000543385" "0" "30" "11" "19207923" "19207923" "subst" "3.65991E-5" "02327" "CSRP3_000090" "g.19207923C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186376C>T" "" "likely benign" "" "0000543386" "0" "10" "11" "19209640" "19209640" "subst" "0.00247658" "02327" "CSRP3_000091" "g.19209640T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188093T>C" "" "benign" "" "0000543387" "0" "50" "11" "19209699" "19209699" "subst" "1.22061E-5" "02327" "CSRP3_000092" "g.19209699C>A" "" "" "" "CSRP3(NM_003476.5):c.265G>T (p.G89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188152C>A" "" "VUS" "" "0000543388" "0" "50" "11" "19209713" "19209713" "subst" "2.03264E-5" "02330" "CSRP3_000093" "g.19209713G>A" "" "" "" "CSRP3(NM_003476.5):c.251C>T (p.T84M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188166G>A" "" "VUS" "" "0000543389" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "02330" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188204G>A" "" "benign" "" "0000543390" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "01943" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188204G>A" "" "benign" "" "0000543391" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "02327" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188204G>A" "" "benign" "" "0000543392" "0" "30" "11" "19209751" "19209751" "subst" "0.00496249" "02325" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188204G>A" "" "likely benign" "" "0000543393" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "02326" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188204G>A" "" "benign" "" "0000543394" "0" "30" "11" "19209753" "19209753" "subst" "0" "02327" "CSRP3_000095" "g.19209753T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188206T>G" "" "likely benign" "" "0000543395" "0" "50" "11" "19209773" "19209773" "subst" "2.03231E-5" "02330" "CSRP3_000096" "g.19209773C>T" "" "" "" "CSRP3(NM_003476.5):c.191G>A (p.R64H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188226C>T" "" "VUS" "" "0000543396" "0" "70" "11" "19209792" "19209792" "subst" "0" "02327" "CSRP3_000097" "g.19209792A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188245A>C" "" "likely pathogenic" "" "0000543397" "0" "10" "11" "19209814" "19209814" "subst" "0.00749882" "02330" "CSRP3_000098" "g.19209814C>T" "" "" "" "CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188267C>T" "" "benign" "" "0000543398" "0" "10" "11" "19209814" "19209814" "subst" "0.00749882" "01943" "CSRP3_000098" "g.19209814C>T" "" "" "" "CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188267C>T" "" "benign" "" "0000543399" "0" "10" "11" "19209814" "19209814" "subst" "0.00749882" "02327" "CSRP3_000098" "g.19209814C>T" "" "" "" "CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188267C>T" "" "benign" "" "0000543400" "0" "10" "11" "19209814" "19209814" "subst" "0.00749882" "02326" "CSRP3_000098" "g.19209814C>T" "" "" "" "CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188267C>T" "" "benign" "" "0000543401" "0" "70" "11" "19209815" "19209815" "subst" "2.0346E-5" "02327" "CSRP3_000099" "g.19209815G>A" "" "" "" "CSRP3(NM_003476.3):c.149C>T (p.A50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188268G>A" "" "likely pathogenic" "" "0000543402" "0" "10" "11" "19209823" "19209823" "subst" "8.13921E-6" "02330" "CSRP3_000100" "g.19209823C>T" "" "" "" "CSRP3(NM_003476.5):c.141G>A (p.T47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188276C>T" "" "benign" "" "0000543403" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "02327" "CSRP3_000101" "g.19209824G>A" "" "" "" "CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188277G>A" "" "VUS" "" "0000543404" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "02326" "CSRP3_000101" "g.19209824G>A" "" "" "" "CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188277G>A" "" "VUS" "" "0000543405" "0" "70" "11" "19209827" "19209827" "subst" "0" "02327" "CSRP3_000102" "g.19209827C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188280C>T" "" "likely pathogenic" "" "0000543406" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "02327" "CSRP3_000043" "g.19209833A>G" "" "" "" "CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188286A>G" "" "likely pathogenic" "" "0000543407" "0" "30" "11" "19209865" "19209865" "subst" "0" "02327" "CSRP3_000103" "g.19209865G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188318G>C" "" "likely benign" "" "0000543408" "0" "50" "11" "19213898" "19213898" "subst" "1.21861E-5" "02330" "CSRP3_000072" "g.19213898G>A" "" "" "" "CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192351G>A" "" "VUS" "" "0000543409" "0" "50" "11" "19213898" "19213898" "subst" "1.21861E-5" "02326" "CSRP3_000072" "g.19213898G>A" "" "" "" "CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192351G>A" "" "VUS" "" "0000543411" "0" "10" "11" "19213948" "19213948" "subst" "8.12301E-6" "02330" "CSRP3_000105" "g.19213948G>A" "" "" "" "CSRP3(NM_003476.5):c.48C>T (p.T16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192401G>A" "" "benign" "" "0000543412" "0" "50" "11" "19213987" "19213987" "subst" "0" "02327" "CSRP3_000106" "g.19213987G>C" "" "" "" "CSRP3(NM_003476.5):c.9C>G (p.N3K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192440G>C" "" "VUS" "" "0000543413" "0" "30" "11" "19223518" "19223518" "subst" "0" "02327" "CSRP3_000107" "g.19223518G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19201971G>A" "" "likely benign" "" "0000543414" "0" "10" "11" "19223546" "19223546" "subst" "0" "02327" "CSRP3_000108" "g.19223546T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19201999T>G" "" "benign" "" "0000613226" "0" "50" "11" "19204258" "19204258" "subst" "3.24971E-5" "02327" "CSRP3_000109" "g.19204258C>G" "" "" "" "CSRP3(NM_003476.3):c.544G>C (p.G182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19182711C>G" "" "VUS" "" "0000613227" "0" "10" "11" "19206481" "19206481" "subst" "0.000857403" "02326" "CSRP3_000082" "g.19206481G>A" "" "" "" "CSRP3(NM_003476.3):c.508+18C>T, CSRP3(NM_003476.5):c.508+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19184934G>A" "" "benign" "" "0000613228" "0" "30" "11" "19207820" "19207820" "subst" "0" "02327" "CSRP3_000087" "g.19207820C>A" "" "" "" "CSRP3(NM_003476.3):c.357G>T (p.K119N), CSRP3(NM_003476.5):c.357G>T (p.K119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186273C>A" "" "likely benign" "" "0000613229" "0" "30" "11" "19207878" "19207878" "subst" "0.00120677" "02327" "CSRP3_000024" "g.19207878C>T" "" "" "" "CSRP3(NM_003476.3):c.299G>A (p.R100H), CSRP3(NM_003476.5):c.299G>A (p.R100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186331C>T" "" "likely benign" "" "0000613230" "0" "10" "11" "19207883" "19207883" "subst" "3.25066E-5" "02330" "CSRP3_000060" "g.19207883C>T" "" "" "" "CSRP3(NM_003476.3):c.294G>A (p.P98=), CSRP3(NM_003476.5):c.294G>A (p.P98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19186336C>T" "" "benign" "" "0000613231" "0" "50" "11" "19209769" "19209769" "subst" "0" "02327" "CSRP3_000110" "g.19209769T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188222T>A" "" "VUS" "" "0000613232" "0" "50" "11" "19209815" "19209815" "subst" "2.0346E-5" "01943" "CSRP3_000099" "g.19209815G>A" "" "" "" "CSRP3(NM_003476.3):c.149C>T (p.A50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19188268G>A" "" "VUS" "" "0000613234" "0" "50" "11" "19213898" "19213898" "subst" "1.21861E-5" "01943" "CSRP3_000072" "g.19213898G>A" "" "" "" "CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192351G>A" "" "VUS" "" "0000613235" "0" "50" "11" "19213946" "19213947" "ins" "0" "01943" "CSRP3_000104" "g.19213946_19213947insAGAAATCTGCA" "" "" "" "CSRP3(NM_003476.3):c.50_51insGCAGATTTCTT (p.Y18Qfs*194)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192399_19192400insAGAAATCTGCA" "" "VUS" "" "0000613236" "0" "50" "11" "19213962" "19213962" "subst" "0" "02327" "CSRP3_000112" "g.19213962C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192415C>T" "" "VUS" "" "0000613238" "0" "30" "11" "19213986" "19213986" "subst" "0.0021736" "02327" "CSRP3_000035" "g.19213986A>G" "" "" "" "CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19192439A>G" "" "likely benign" "" "0000648190" "1" "50" "11" "19204266" "19204266" "subst" "3.65595E-5" "03575" "CSRP3_000114" "g.19204266G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142019584}" "Germline" "" "rs142019584" "0" "" "" "g.19182719G>A" "" "VUS" "" "0000648191" "1" "50" "11" "19209833" "19209833" "subst" "1.22137E-5" "03575" "CSRP3_000043" "g.19209833A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs104894205}" "Germline" "" "rs104894205" "0" "" "" "g.19188286A>G" "" "VUS" "" "0000648192" "1" "50" "11" "19213980" "19213980" "subst" "8.93684E-5" "03575" "CSRP3_000115" "g.19213980C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185980145}" "Germline" "" "rs185980145" "0" "" "" "g.19192433C>T" "" "VUS" "" "0000648193" "1" "50" "11" "19213986" "19213986" "subst" "0.0021736" "03575" "CSRP3_000035" "g.19213986A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs45550635}" "Germline" "" "rs45550635" "0" "" "" "g.19192439A>G" "" "VUS" "" "0000679136" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "02326" "CSRP3_000085" "g.19207798C>T" "" "" "" "CSRP3(NM_003476.3):c.379G>A (p.V127I), CSRP3(NM_003476.5):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679137" "0" "50" "11" "19209717" "19209717" "subst" "0" "02330" "CSRP3_000116" "g.19209717C>G" "" "" "" "CSRP3(NM_003476.5):c.247G>C (p.D83H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679138" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "02325" "CSRP3_000101" "g.19209824G>A" "" "" "" "CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691024" "0" "50" "11" "19207812" "19207812" "subst" "1.21895E-5" "02330" "CSRP3_000055" "g.19207812C>T" "" "" "" "CSRP3(NM_003476.3):c.365G>A (p.R122Q), CSRP3(NM_003476.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691025" "0" "50" "11" "19209744" "19209744" "del" "0" "01943" "CSRP3_000117" "g.19209744del" "" "" "" "CSRP3(NM_003476.3):c.221delG (p.G74Dfs*134)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700011" "0" "70" "11" "19213883" "19213883" "subst" "4.46915E-5" "00006" "CSRP3_000122" "g.19213883C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19192336C>T" "" "likely pathogenic" "" "0000700012" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "00006" "CSRP3_000043" "g.19209833A>G" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188286A>G" "" "likely pathogenic" "" "0000700876" "0" "50" "11" "19209833" "19209833" "subst" "1.22137E-5" "00006" "CSRP3_000043" "g.19209833A>G" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.19188286A>G" "" "VUS" "" "0000700877" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "00006" "CSRP3_000101" "g.19209824G>A" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188277G>A" "" "VUS" "" "0000700878" "0" "50" "11" "19209812" "19209812" "subst" "2.44077E-5" "00006" "CSRP3_000120" "g.19209812G>T" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188265G>T" "" "VUS" "" "0000700879" "0" "50" "11" "19209773" "19209773" "subst" "2.03231E-5" "00006" "CSRP3_000096" "g.19209773C>T" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188226C>T" "" "VUS" "" "0000700880" "0" "50" "11" "19209767" "19209767" "subst" "8.1285E-6" "00006" "CSRP3_000119" "g.19209767T>C" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188220T>C" "" "VUS" "" "0000700881" "0" "50" "11" "19207895" "19207903" "del" "0" "00006" "CSRP3_000063" "g.19207895_19207903del" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "282-5_285delAACAGGTCC" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.19186348_19186356del" "" "VUS" "" "0000700882" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "00006" "CSRP3_000085" "g.19207798C>T" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19186251C>T" "" "VUS" "" "0000700883" "0" "50" "11" "19204297" "19204298" "del" "0" "00006" "CSRP3_000118" "g.19204297_19204298del" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "509-3_509-2delCA" "VUS favour benign" "Germline" "" "" "0" "" "" "g.19182750_19182751del" "" "VUS" "" "0000701506" "0" "70" "11" "19209828" "19209828" "subst" "2.4422E-5" "00006" "CSRP3_000111" "g.19209828T>G" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188281T>G" "" "likely pathogenic" "" "0000701507" "0" "50" "11" "19209816" "19209816" "subst" "3.66208E-5" "00006" "CSRP3_000121" "g.19209816C>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.19188269C>T" "" "VUS" "" "0000701508" "0" "50" "11" "19204297" "19204298" "del" "0" "00006" "CSRP3_000118" "g.19204297_19204298del" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "509-3_509-2delCA" "" "Germline" "" "" "0" "" "" "g.19182750_19182751del" "" "VUS" "" "0000701509" "0" "50" "11" "19204267" "19204267" "subst" "1.6247E-5" "00006" "CSRP3_000080" "g.19204267T>C" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.19182720T>C" "" "VUS" "" "0000701761" "0" "50" "11" "19213986" "19213986" "subst" "0.0021736" "00006" "CSRP3_000035" "g.19213986A>G" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000712964" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "03779" "CSRP3_000094" "g.19209751G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs45476991" "0" "" "" "" "" "benign" "" "0000723355" "0" "30" "11" "19204209" "19204209" "subst" "9.34003E-5" "02330" "CSRP3_000123" "g.19204209G>A" "" "" "" "CSRP3(NM_001369404.1):c.424C>T (p.R142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723356" "0" "50" "11" "19207812" "19207812" "subst" "1.21895E-5" "01943" "CSRP3_000055" "g.19207812C>T" "" "" "" "CSRP3(NM_003476.3):c.365G>A (p.R122Q), CSRP3(NM_003476.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805059" "0" "30" "11" "19207877" "19207877" "subst" "8.12638E-6" "01943" "CSRP3_000124" "g.19207877G>A" "" "" "" "CSRP3(NM_003476.3):c.300C>T (p.R100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805060" "0" "50" "11" "19209699" "19209699" "subst" "1.22061E-5" "02325" "CSRP3_000092" "g.19209699C>A" "" "" "" "CSRP3(NM_003476.5):c.265G>T (p.G89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852851" "0" "30" "11" "19207895" "19207895" "subst" "4.06365E-6" "02327" "CSRP3_000125" "g.19207895C>A" "" "" "" "CSRP3(NM_003476.5):c.282G>T (p.Q94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852852" "0" "50" "11" "19209853" "19209853" "subst" "0" "02330" "CSRP3_000126" "g.19209853T>C" "" "" "" "CSRP3(NM_003476.5):c.113-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889739" "0" "30" "11" "19204187" "19204187" "subst" "0" "02327" "CSRP3_000127" "g.19204187C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889740" "0" "10" "11" "19204205" "19204205" "subst" "0.000373592" "02330" "CSRP3_000079" "g.19204205C>T" "" "" "" "CSRP3(NM_001369404.1):c.428G>A (p.R143H), CSRP3(NM_003476.3):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889741" "0" "50" "11" "19204258" "19204258" "subst" "3.24971E-5" "02326" "CSRP3_000109" "g.19204258C>G" "" "" "" "CSRP3(NM_003476.3):c.544G>C (p.G182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889742" "0" "50" "11" "19204285" "19204285" "subst" "0" "02330" "CSRP3_000128" "g.19204285C>T" "" "" "" "CSRP3(NM_003476.5):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889743" "0" "50" "11" "19204288" "19204288" "subst" "0" "02325" "CSRP3_000046" "g.19204288A>G" "" "" "" "CSRP3(NM_003476.5):c.514T>C (p.Y172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889744" "0" "30" "11" "19207878" "19207878" "subst" "0.00120677" "02326" "CSRP3_000024" "g.19207878C>T" "" "" "" "CSRP3(NM_003476.3):c.299G>A (p.R100H), CSRP3(NM_003476.5):c.299G>A (p.R100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889745" "0" "50" "11" "19207879" "19207879" "subst" "6.50079E-5" "02330" "CSRP3_000129" "g.19207879G>A" "" "" "" "CSRP3(NM_003476.5):c.298C>T (p.R100C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889746" "0" "30" "11" "19209802" "19209802" "subst" "0.000207427" "02326" "CSRP3_000070" "g.19209802C>T" "" "" "" "CSRP3(NM_003476.3):c.162G>A (p.S54=), CSRP3(NM_003476.5):c.162G>A (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889747" "0" "50" "11" "19209812" "19209812" "subst" "2.44077E-5" "02325" "CSRP3_000120" "g.19209812G>T" "" "" "" "CSRP3(NM_003476.5):c.152C>A (p.A51D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889748" "0" "70" "11" "19209828" "19209828" "subst" "2.4422E-5" "02330" "CSRP3_000111" "g.19209828T>G" "" "" "" "CSRP3(NM_003476.5):c.136A>C (p.S46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889749" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "02330" "CSRP3_000043" "g.19209833A>G" "" "" "" "CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889750" "0" "50" "11" "19209848" "19209848" "subst" "1.631E-5" "02330" "CSRP3_000130" "g.19209848G>C" "" "" "" "CSRP3(NM_003476.5):c.116C>G (p.A39G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889751" "0" "30" "11" "19213897" "19213897" "subst" "1.62475E-5" "02327" "CSRP3_000131" "g.19213897C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913549" "0" "50" "11" "19207820" "19207820" "subst" "0" "02325" "CSRP3_000087" "g.19207820C>A" "" "" "" "CSRP3(NM_003476.3):c.357G>T (p.K119N), CSRP3(NM_003476.5):c.357G>T (p.K119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925357" "0" "50" "11" "19207895" "19207895" "subst" "4.06365E-6" "02325" "CSRP3_000125" "g.19207895C>A" "" "" "" "CSRP3(NM_003476.5):c.282G>T (p.Q94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929835" "0" "30" "11" "19204313" "19204313" "subst" "0" "02326" "CSRP3_000047" "g.19204313G>T" "" "" "" "CSRP3(NM_003476.3):c.509-20C>A, CSRP3(NM_003476.5):c.509-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929836" "0" "50" "11" "19213923" "19213923" "subst" "0" "02327" "CSRP3_000044" "g.19213923A>G" "" "" "" "CSRP3(NM_003476.5):c.73T>C (p.C25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954762" "0" "50" "11" "19209774" "19209774" "subst" "2.84557E-5" "03779" "CSRP3_000132" "g.19209774G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs368392588" "0" "" "" "" "" "VUS" "" "0000966291" "0" "50" "11" "19206571" "19206571" "subst" "1.21883E-5" "02326" "CSRP3_000052" "g.19206571G>A" "" "" "" "CSRP3(NM_003476.3):c.436C>T (p.R146C), CSRP3(NM_003476.5):c.436C>T (p.(Arg146Cys), p.R146C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966292" "0" "90" "11" "19207822" "19207822" "subst" "0" "02330" "CSRP3_000133" "g.19207822T>A" "" "" "" "CSRP3(NM_003476.5):c.355A>T (p.K119*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966293" "0" "50" "11" "19213987" "19213987" "subst" "0" "02330" "CSRP3_000106" "g.19213987G>C" "" "" "" "CSRP3(NM_003476.5):c.9C>G (p.N3K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979505" "0" "50" "11" "19207800" "19207800" "subst" "0" "02325" "CSRP3_000086" "g.19207800G>A" "" "" "" "CSRP3(NM_003476.5):c.377C>T (p.S126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979506" "0" "30" "11" "19207865" "19207865" "subst" "0.00361203" "01804" "CSRP3_000059" "g.19207865G>C" "" "" "" "CSRP3(NM_001369404.1):c.143C>G (p.(Pro48Arg)), CSRP3(NM_003476.5):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989681" "0" "50" "11" "19209756" "19209756" "subst" "3.25108E-5" "02515" "CSRP3_000045" "g.19209756C>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs777211110" "0" "" "" "g.19188209C>A" "" "VUS" "" "0000989682" "0" "50" "11" "19206570" "19206570" "subst" "2.4376E-5" "02515" "CSRP3_000051" "g.19206570C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs377066670" "0" "" "" "g.19185023C>T" "" "VUS" "" "0001014776" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "02330" "CSRP3_000101" "g.19209824G>A" "" "" "" "CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020136" "0" "70" "11" "19209833" "19209833" "subst" "1.22137E-5" "03779" "CSRP3_000043" "g.19209833A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs104894205" "0" "" "" "" "" "likely pathogenic" "" "0001025950" "0" "50" "11" "19204267" "19204267" "subst" "1.6247E-5" "02325" "CSRP3_000080" "g.19204267T>C" "" "" "" "CSRP3(NM_003476.5):c.535A>G (p.T179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025951" "0" "50" "11" "19207798" "19207798" "subst" "3.65669E-5" "01943" "CSRP3_000085" "g.19207798C>T" "" "" "" "CSRP3(NM_003476.3):c.379G>A (p.V127I), CSRP3(NM_003476.5):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025952" "0" "50" "11" "19207895" "19207895" "subst" "4.06365E-6" "02330" "CSRP3_000125" "g.19207895C>A" "" "" "" "CSRP3(NM_003476.5):c.282G>T (p.Q94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025953" "0" "30" "11" "19213986" "19213986" "subst" "0.0021736" "01943" "CSRP3_000035" "g.19213986A>G" "" "" "" "CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038384" "0" "10" "11" "19207841" "19207841" "subst" "0.0799899" "01804" "CSRP3_000058" "g.19207841C>T" "" "" "" "CSRP3(NM_001369404.1):c.167G>A (p.(Arg56Gln)), CSRP3(NM_003476.3):c.336G>A (p.A112=), CSRP3(NM_003476.5):c.336G>A (p.A112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038385" "0" "10" "11" "19209751" "19209751" "subst" "0.00496249" "01804" "CSRP3_000094" "g.19209751G>A" "" "" "" "CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038386" "0" "30" "11" "19209756" "19209756" "subst" "3.25108E-5" "01804" "CSRP3_000045" "g.19209756C>A" "" "" "" "CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038387" "0" "50" "11" "19209824" "19209824" "subst" "2.44202E-5" "01804" "CSRP3_000101" "g.19209824G>A" "" "" "" "CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045482" "0" "50" "11" "19207884" "19207884" "subst" "1.21898E-5" "03779" "CSRP3_000134" "g.19207884G>A" "" "" "" "" "" "Unknown" "" "rs773411006" "0" "" "" "" "" "VUS" "" "0001053837" "0" "50" "11" "19206571" "19206571" "subst" "1.21883E-5" "01804" "CSRP3_000052" "g.19206571G>A" "" "" "" "CSRP3(NM_003476.3):c.436C>T (p.R146C), CSRP3(NM_003476.5):c.436C>T (p.(Arg146Cys), p.R146C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059883" "0" "50" "11" "19206547" "19206547" "subst" "0" "03779" "CSRP3_000135" "g.19206547G>C" "" "" "" "" "" "Unknown" "" "rs2494218636" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CSRP3 ## Count = 196 "{{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}}" "0000095260" "00005780" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Cys150Tyr)" "" "0000095472" "00005780" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000095498" "00005780" "50" "415" "-1" "415" "-1" "c.415-1G>T" "r.spl" "p.?" "5i" "0000095608" "00005780" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000095689" "00005780" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000095790" "00005780" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Cys150Tyr)" "6" "0000096509" "00005780" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "5" "0000217964" "00005780" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000246986" "00005780" "10" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000247029" "00005780" "10" "508" "9" "508" "9" "c.508+9T>C" "r.(=)" "p.(=)" "" "0000247061" "00005780" "50" "367" "0" "367" "0" "c.367T>C" "r.(?)" "p.(Cys123Arg)" "" "0000247062" "00005780" "50" "73" "0" "73" "0" "c.73T>C" "r.(?)" "p.(Cys25Arg)" "" "0000247065" "00005780" "50" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Tyr172His)" "" "0000248136" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000248266" "00005780" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000249777" "00005780" "50" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Met134Lys)" "" "0000250827" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000251712" "00005780" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000253847" "00005780" "10" "281" "25" "281" "25" "c.281+25T>G" "r.(=)" "p.(=)" "" "0000255382" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000265048" "00005780" "50" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" "" "0000265049" "00005780" "10" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ser54=)" "" "0000265050" "00005780" "50" "282" "-5" "285" "0" "c.282-5_285del" "r.spl?" "p.?" "" "0000265051" "00005780" "50" "286" "0" "287" "0" "c.286_287del" "r.(?)" "p.(Pro96LysfsTer35)" "" "0000265052" "00005780" "50" "291" "0" "291" "0" "c.291G>C" "r.(?)" "p.(Lys97Asn)" "" "0000265053" "00005780" "10" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "0000265054" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0000265055" "00005780" "50" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Gly115Glu)" "" "0000265056" "00005780" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Glu118Lys)" "" "0000265057" "00005780" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000265058" "00005780" "50" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Asn158Asp)" "" "0000265059" "00005780" "10" "509" "-20" "509" "-20" "c.509-20C>A" "r.(=)" "p.(=)" "" "0000267150" "00005780" "50" "202" "0" "202" "0" "c.202C>G" "r.(?)" "p.(Pro68Ala)" "" "0000267151" "00005780" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Gly70Trp)" "" "0000267152" "00005780" "50" "282" "-5" "285" "0" "c.282-5_285del" "r.spl?" "p.?" "" "0000267153" "00005780" "30" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "0000267154" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0000267155" "00005780" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000267156" "00005780" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Cys)" "" "0000267157" "00005780" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000267158" "00005780" "50" "491" "0" "497" "0" "c.491_497del" "r.(?)" "p.(Gly164ValfsTer42)" "" "0000267159" "00005780" "30" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Gly180Cys)" "" "0000267160" "00005780" "50" "85" "0" "85" "0" "c.85A>G" "r.(?)" "p.(Ser29Gly)" "" "0000267161" "00005780" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "0000270609" "00005780" "30" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Leu88=)" "" "0000270610" "00005780" "50" "286" "0" "287" "0" "c.286_287del" "r.(?)" "p.(Pro96LysfsTer35)" "" "0000270611" "00005780" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000274503" "00005780" "50" "596" "0" "596" "0" "c.*11C>T" "r.(=)" "p.(=)" "" "0000274504" "00005780" "50" "593" "0" "593" "0" "c.*8C>A" "r.(=)" "p.(=)" "" "0000274505" "00005780" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Gly72=)" "" "0000274506" "00005780" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000274507" "00005780" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Pro98=)" "" "0000274508" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0000274509" "00005780" "50" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Asn158Asp)" "" "0000274510" "00005780" "30" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Val190Leu)" "" "0000274511" "00005780" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Phe30=)" "" "0000346235" "00005780" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Gly70Trp)" "" "0000408467" "00005780" "90" "113" "-1" "1225" "0" "c.(112+1_113-1)_(*640_?)del" "r.?" "p.?" "3i_7_" "0000543355" "00005780" "30" "830" "0" "830" "0" "c.*245T>C" "r.(=)" "p.(=)" "" "0000543356" "00005780" "30" "668" "0" "668" "0" "c.*83T>G" "r.(=)" "p.(=)" "" "0000543357" "00005780" "10" "597" "0" "597" "0" "c.*12G>A" "r.(=)" "p.(=)" "" "0000543359" "00005780" "50" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Thr179Ala)" "" "0000543360" "00005780" "50" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Thr179Ala)" "" "0000543361" "00005780" "50" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Tyr172His)" "" "0000543362" "00005780" "10" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Cys171=)" "" "0000543363" "00005780" "10" "508" "18" "508" "18" "c.508+18C>T" "r.(=)" "p.(=)" "" "0000543364" "00005780" "10" "508" "18" "508" "18" "c.508+18C>T" "r.(=)" "p.(=)" "" "0000543365" "00005780" "10" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Ala148=)" "" "0000543366" "00005780" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000543367" "00005780" "10" "415" "-30" "415" "-30" "c.415-30T>C" "r.(=)" "p.(=)" "" "0000543368" "00005780" "30" "415" "-30" "415" "-30" "c.415-30T>C" "r.(=)" "p.(=)" "" "0000543369" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000543370" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000543371" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000543372" "00005780" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Leu)" "" "0000543373" "00005780" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000543374" "00005780" "50" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Lys119Asn)" "" "0000543375" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0000543376" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0000543377" "00005780" "10" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "0000543378" "00005780" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Thr103=)" "" "0000543379" "00005780" "10" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000543380" "00005780" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000543381" "00005780" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000543382" "00005780" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Pro98=)" "" "0000543383" "00005780" "50" "284" "0" "284" "0" "c.284C>G" "r.(?)" "p.(Ser95Cys)" "" "0000543384" "00005780" "50" "282" "-5" "285" "0" "c.282-5_285del" "r.spl?" "p.?" "" "0000543385" "00005780" "30" "282" "-28" "282" "-28" "c.282-28G>A" "r.(=)" "p.(=)" "" "0000543386" "00005780" "10" "281" "43" "281" "43" "c.281+43A>G" "r.(=)" "p.(=)" "" "0000543387" "00005780" "50" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Gly89Cys)" "" "0000543388" "00005780" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Thr84Met)" "" "0000543389" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000543390" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000543391" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000543392" "00005780" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000543393" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000543394" "00005780" "30" "211" "0" "211" "0" "c.211A>C" "r.(?)" "p.(Ile71Leu)" "" "0000543395" "00005780" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64His)" "" "0000543396" "00005780" "70" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Cys58Gly)" "" "0000543397" "00005780" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" "" "0000543398" "00005780" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" "" "0000543399" "00005780" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" "" "0000543400" "00005780" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" "" "0000543401" "00005780" "70" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "" "0000543402" "00005780" "10" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Thr47=)" "" "0000543403" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0000543404" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0000543405" "00005780" "70" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Ser46Asn)" "" "0000543406" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000543407" "00005780" "30" "113" "-14" "113" "-14" "c.113-14C>G" "r.(=)" "p.(=)" "" "0000543408" "00005780" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "0000543409" "00005780" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "0000543411" "00005780" "10" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Thr16=)" "" "0000543412" "00005780" "50" "9" "0" "9" "0" "c.9C>G" "r.(?)" "p.(Asn3Lys)" "" "0000543413" "00005780" "30" "-46" "0" "-46" "0" "c.-46C>T" "r.(?)" "p.(=)" "" "0000543414" "00005780" "10" "-74" "0" "-74" "0" "c.-74A>C" "r.(?)" "p.(=)" "" "0000613226" "00005780" "50" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Gly182Arg)" "" "0000613227" "00005780" "10" "508" "18" "508" "18" "c.508+18C>T" "r.(=)" "p.(=)" "" "0000613228" "00005780" "30" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Lys119Asn)" "" "0000613229" "00005780" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000613230" "00005780" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Pro98=)" "" "0000613231" "00005780" "50" "195" "0" "195" "0" "c.195A>T" "r.(?)" "p.(Arg65Ser)" "" "0000613232" "00005780" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "" "0000613234" "00005780" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "0000613235" "00005780" "50" "50" "0" "51" "0" "c.50_51insGCAGATTTCTT" "r.(?)" "p.(Tyr18GlnfsTer194)" "" "0000613236" "00005780" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000613238" "00005780" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000648190" "00005780" "50" "536" "0" "536" "0" "c.536C>T" "r.(?)" "p.(Thr179Met)" "" "0000648191" "00005780" "50" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000648192" "00005780" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000648193" "00005780" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000679136" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000679137" "00005780" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Asp83His)" "" "0000679138" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0000691024" "00005780" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000691025" "00005780" "50" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Gly74AspfsTer134)" "" "0000700011" "00005780" "70" "112" "1" "112" "1" "c.112+1G>A" "r.spl" "p.?" "" "0000700012" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000700876" "00005780" "50" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000700877" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0000700878" "00005780" "50" "152" "0" "152" "0" "c.152C>A" "r.(?)" "p.(Ala51Asp)" "" "0000700879" "00005780" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64His)" "" "0000700880" "00005780" "50" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Tyr66Cys)" "" "0000700881" "00005780" "50" "282" "-5" "285" "0" "c.282-5_285del" "r.spl" "p.?" "" "0000700882" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000700883" "00005780" "50" "509" "-3" "509" "-2" "c.509-3_509-2del" "r.spl" "p.?" "" "0000701506" "00005780" "70" "136" "0" "136" "0" "c.136A>C" "r.(?)" "p.(Ser46Arg)" "" "0000701507" "00005780" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Ala50Thr)" "" "0000701508" "00005780" "50" "509" "-3" "509" "-2" "c.509-3_509-2del" "r.spl" "p.?" "" "0000701509" "00005780" "50" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Thr179Ala)" "" "0000701761" "00005780" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0000712964" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000723355" "00005780" "30" "593" "0" "593" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "0000723356" "00005780" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000805059" "00005780" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Arg100=)" "" "0000805060" "00005780" "50" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Gly89Cys)" "" "0000852851" "00005780" "30" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(Gln94His)" "" "0000852852" "00005780" "50" "113" "-2" "113" "-2" "c.113-2A>G" "r.spl?" "p.?" "" "0000889739" "00005780" "30" "615" "0" "615" "0" "c.*30G>A" "r.(=)" "p.(=)" "" "0000889740" "00005780" "10" "597" "0" "597" "0" "c.*12G>A" "r.(=)" "p.(=)" "" "0000889741" "00005780" "50" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Gly182Arg)" "" "0000889742" "00005780" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000889743" "00005780" "50" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Tyr172His)" "" "0000889744" "00005780" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000889745" "00005780" "50" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100Cys)" "" "0000889746" "00005780" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ser54=)" "" "0000889747" "00005780" "50" "152" "0" "152" "0" "c.152C>A" "r.(?)" "p.(Ala51Asp)" "" "0000889748" "00005780" "70" "136" "0" "136" "0" "c.136A>C" "r.(?)" "p.(Ser46Arg)" "" "0000889749" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000889750" "00005780" "50" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ala39Gly)" "" "0000889751" "00005780" "30" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Thr33=)" "" "0000913549" "00005780" "50" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Lys119Asn)" "" "0000925357" "00005780" "50" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(Gln94His)" "" "0000929835" "00005780" "30" "509" "-20" "509" "-20" "c.509-20C>A" "r.(=)" "p.(=)" "" "0000929836" "00005780" "50" "73" "0" "73" "0" "c.73T>C" "r.(?)" "p.(Cys25Arg)" "" "0000954762" "00005780" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Cys)" "" "0000966291" "00005780" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Cys)" "" "0000966292" "00005780" "90" "355" "0" "355" "0" "c.355A>T" "r.(?)" "p.(Lys119*)" "" "0000966293" "00005780" "50" "9" "0" "9" "0" "c.9C>G" "r.(?)" "p.(Asn3Lys)" "" "0000979505" "00005780" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Leu)" "" "0000979506" "00005780" "30" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "0000989681" "00005780" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Gly70Trp)" "" "0000989682" "00005780" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0001014776" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0001020136" "00005780" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0001025950" "00005780" "50" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Thr179Ala)" "" "0001025951" "00005780" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0001025952" "00005780" "50" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(Gln94His)" "" "0001025953" "00005780" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Trp4Arg)" "" "0001038384" "00005780" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Ala112=)" "" "0001038385" "00005780" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0001038386" "00005780" "30" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Gly70Trp)" "" "0001038387" "00005780" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "0001045482" "00005780" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0001053837" "00005780" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Cys)" "" "0001059883" "00005780" "50" "460" "0" "460" "0" "c.460C>G" "r.(?)" "p.(Leu154Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000064221" "0000095260" "0000064277" "0000095472" "0000064286" "0000095498" "0000064316" "0000095608" "0000064342" "0000095689" "0000064398" "0000095790" "0000064857" "0000096509" "0000128833" "0000217964" "0000184422" "0000408467" "0000291501" "0000648190" "0000291502" "0000648191" "0000291503" "0000648192" "0000291504" "0000648193" "0000297813" "0000701761" "0000317405" "0000700011" "0000317406" "0000700012" "0000318270" "0000700876" "0000318271" "0000700877" "0000318272" "0000700878" "0000318273" "0000700879" "0000318274" "0000700880" "0000318275" "0000700881" "0000318276" "0000700882" "0000318277" "0000700883" "0000318900" "0000701506" "0000318901" "0000701507" "0000318902" "0000701508" "0000318903" "0000701509" "0000454780" "0000989681" "0000454781" "0000989682"