### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO5B) # 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}}" "MYO5B" "myosin VB" "18" "q" "unknown" "NG_012925.1" "UD_132118457302" "" "https://www.LOVD.nl/MYO5B" "" "1" "7603" "4645" "606540" "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/MYO5B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-23 12:58:52" "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}}" "00014179" "MYO5B" "myosin VB" "001" "NM_001080467.2" "" "NP_001073936.1" "" "" "" "-288" "9232" "5547" "47721451" "47349156" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "01925" "DIAR2;MVID" "diarrhea, type 2, with microvillous atrophy (DIAR-2, microvillus inclusion disease (MVID))" "AR" "251850" "" "onset of intractable life-threatening watery diarrhea during infancy; two forms are recognized: early-onset with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYO5B" "01925" ## Individuals ## Do not remove or alter this header ## ## Count = 57 "{{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}}" "00148468" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "1" "00148469" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "2" "00148470" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "3" "00148471" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "4" "00148472" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "5" "00148473" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "6" "00148474" "" "" "" "1" "" "00006" "{PMID:Erickson 2008:19006234}" "" "" "" "" "" "0" "" "" "Navajo" "7" "00148475" "" "" "" "1" "" "00006" "{PMID:Guzoglu 2017:27575604}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "A6-P1" "00148476" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "F" "no" "Italy" "" "0" "" "" "" "105" "00148477" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "106" "00148478" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "F" "no" "Italy" "" "0" "" "" "" "115" "00148479" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "121" "00148480" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "M" "" "" "" "0" "" "" "hispanic" "1" "00148481" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "F" "yes" "" "" "0" "" "" "hispanic" "2.3" "00148482" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "M" "yes" "" "" "0" "" "" "Navajo" "4" "00148483" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "F" "yes" "" "" "0" "" "" "Navajo" "5" "00148484" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "M" "yes" "Morocco" "" "0" "" "" "" "8" "00148485" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148486" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148487" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148488" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148489" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148490" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148491" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "?" "00148492" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "yes" "Algeria" "" "0" "" "" "" "?" "00148493" "" "" "" "1" "" "00006" "{PMID:Chen 2011:21199752}, {PMID:Chiang 2013:23608388}" "" "M" "no" "Taiwan" "" "0" "" "" "" "?" "00148494" "" "" "" "1" "" "00006" "{PMID:Fernandez Caamano 2015:25547668}" "" "F" "no" "" "" "0" "" "" "" "A1-P5" "00148495" "" "" "" "1" "" "00006" "{PMID:Fernandez Caamano 2015:25547668}" "" "M" "no" "" "" "0" "" "" "" "A1-P6" "00148496" "" "" "" "1" "" "00006" "{PMID:Mao 2016:27984607}" "" "F" "" "" "" "0" "" "" "" "A5-P1" "00148497" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "F" "no" "Italy" "" "0" "" "" "" "A3-P1" "00148498" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "M" "no" "Morocco" "" "0" "" "" "" "A3-P2" "00148499" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "M" "no" "Morocco" "" "0" "" "" "" "A3-P3" "00148500" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "M" "no" "Israel" "" "0" "" "" "" "A3-P6" "00148501" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "M" "no" "France" "" "0" "" "" "" "A3-P7" "00148502" "" "" "" "1" "" "00006" "{PMID:Perry 2014:25111220}" "" "F" "no" "France" "" "0" "" "" "" "A3-P8" "00148503" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "F" "no" "France" "" "0" "" "" "" "107" "00148504" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "no" "France" "" "0" "" "" "" "108" "00148505" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "no" "Yugoslavia" "" "0" "" "" "Kosovo" "109" "00148506" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "F" "no" "Algeria" "" "0" "" "" "" "112" "00148507" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "F" "no" "Portugal" "" "0" "" "" "" "114" "00148508" "" "" "" "1" "" "00006" "{PMID:Ruemmele 2010:20186687}" "" "M" "no" "France" "" "0" "" "" "" "120" "00148509" "" "" "" "1" "" "00006" "{PMID:Shahid 2011:21968248}" "" "M" "no" "" "" "0" "" "" "white" "1" "00148510" "" "" "" "1" "" "00006" "{PMID:Shillingford 2015:25517957}" "" "" "" "" "" "0" "" "" "" "A2-P6" "00148511" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "F" "no" "" "" "0" "" "" "white" "6" "00148512" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "F" "no" "Poland" "" "0" "" "" "" "7" "00148513" "" "" "" "1" "" "00006" "{PMID:Szperl 2011:21206382}" "" "M" "no" "Netherlands" "" "0" "" "" "" "9" "00148514" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "F" "no" "France" "" "0" "" "" "" "?" "00148515" "" "" "" "1" "" "00006" "{PMID:Muller 2008:18724368}" "" "M" "no" "Ireland" "" "0" "" "" "" "?" "00148516" "" "" "" "1" "" "00006" "{PMID:Thoeni 2014:24138727}" "" "" "no" "" "" "0" "" "" "" "?" "00148517" "" "" "" "1" "" "00006" "unpublished" "" "M" "no" "Turkey" "" "0" "" "" "Turkish" "?" "00148518" "" "" "" "1" "" "00006" "unpublished" "" "F" "no" "Netherlands" "" "0" "" "" "" "?" "00291974" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291975" "" "" "" "188" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304631" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305937" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "35" "00306218" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "120" "00307319" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00148468" "01925" "00148469" "01925" "00148470" "01925" "00148471" "01925" "00148472" "01925" "00148473" "01925" "00148474" "01925" "00148475" "01925" "00148476" "01925" "00148477" "01925" "00148478" "01925" "00148479" "01925" "00148480" "01925" "00148481" "01925" "00148482" "01925" "00148483" "01925" "00148484" "01925" "00148485" "01925" "00148486" "01925" "00148487" "01925" "00148488" "01925" "00148489" "01925" "00148490" "01925" "00148491" "01925" "00148492" "01925" "00148493" "01925" "00148494" "01925" "00148495" "01925" "00148496" "01925" "00148497" "01925" "00148498" "01925" "00148499" "01925" "00148500" "01925" "00148501" "01925" "00148502" "01925" "00148503" "01925" "00148504" "01925" "00148505" "01925" "00148506" "01925" "00148507" "01925" "00148508" "01925" "00148509" "01925" "00148510" "01925" "00148511" "01925" "00148512" "01925" "00148513" "01925" "00148514" "01925" "00148515" "01925" "00148516" "01925" "00148517" "01925" "00148518" "01925" "00291974" "00198" "00291975" "00198" "00304631" "00198" "00305937" "01925" "00306218" "01925" "00307319" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01925 ## Count = 54 "{{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}}" "0000120917" "01925" "00148468" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120918" "01925" "00148469" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120919" "01925" "00148470" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120920" "01925" "00148471" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120921" "01925" "00148472" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120922" "01925" "00148473" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120923" "01925" "00148474" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120924" "01925" "00148475" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120925" "01925" "00148476" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120926" "01925" "00148477" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120927" "01925" "00148478" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120928" "01925" "00148479" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120929" "01925" "00148480" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120930" "01925" "00148481" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120931" "01925" "00148482" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120932" "01925" "00148483" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120933" "01925" "00148484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120934" "01925" "00148485" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120935" "01925" "00148486" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120936" "01925" "00148487" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120937" "01925" "00148488" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120938" "01925" "00148489" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120939" "01925" "00148490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120940" "01925" "00148491" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120941" "01925" "00148492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120942" "01925" "00148493" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120943" "01925" "00148494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120944" "01925" "00148495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120945" "01925" "00148496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120946" "01925" "00148497" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120947" "01925" "00148498" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120948" "01925" "00148499" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120949" "01925" "00148500" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120950" "01925" "00148501" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120951" "01925" "00148502" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120952" "01925" "00148503" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120953" "01925" "00148504" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120954" "01925" "00148505" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120955" "01925" "00148506" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120956" "01925" "00148507" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120957" "01925" "00148508" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120958" "01925" "00148509" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120959" "01925" "00148510" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120960" "01925" "00148511" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120961" "01925" "00148512" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120962" "01925" "00148513" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120963" "01925" "00148514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120964" "01925" "00148515" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120965" "01925" "00148516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120966" "01925" "00148517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000120967" "01925" "00148518" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microvillus inclusion disease" "" "0000231787" "01925" "00305937" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232067" "01925" "00306218" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233119" "00198" "00307319" "02551" "Unknown" "" "Abnormality of the small intestine (HP:0002244)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000149324" "00148468" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149325" "00148469" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149326" "00148470" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149327" "00148471" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149328" "00148472" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149329" "00148473" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149330" "00148474" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149331" "00148475" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149332" "00148476" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149333" "00148477" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149334" "00148478" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149335" "00148479" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149336" "00148480" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149337" "00148481" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149338" "00148482" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149339" "00148483" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149340" "00148484" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149341" "00148485" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149342" "00148486" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149343" "00148487" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149344" "00148488" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149345" "00148489" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149346" "00148490" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149347" "00148491" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149348" "00148492" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149349" "00148493" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149350" "00148494" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149351" "00148495" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149352" "00148496" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149353" "00148497" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149354" "00148498" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149355" "00148499" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149356" "00148500" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149357" "00148501" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149358" "00148502" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149359" "00148503" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149360" "00148504" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149361" "00148505" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149362" "00148506" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149363" "00148507" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149364" "00148508" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149365" "00148509" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149366" "00148510" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149367" "00148511" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149368" "00148512" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149369" "00148513" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149370" "00148514" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149371" "00148515" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149372" "00148516" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149373" "00148517" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000149374" "00148518" "1" "00006" "00006" "2018-01-04 19:57:20" "" "" "SEQ" "DNA" "" "" "0000293142" "00291974" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293143" "00291975" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305760" "00304631" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307068" "00305937" "1" "03695" "03695" "2020-07-05 20:25:39" "" "" "SEQ-NG" "DNA" "" "" "0000307351" "00306218" "1" "03695" "03695" "2020-07-11 10:01:07" "" "" "SEQ-NG" "DNA" "" "" "0000308461" "00307319" "1" "02551" "02551" "2020-08-10 12:29:01" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000149324" "MYO5B" "0000149325" "MYO5B" "0000149326" "MYO5B" "0000149327" "MYO5B" "0000149328" "MYO5B" "0000149329" "MYO5B" "0000149330" "MYO5B" "0000149331" "MYO5B" "0000149332" "MYO5B" "0000149333" "MYO5B" "0000149334" "MYO5B" "0000149335" "MYO5B" "0000149336" "MYO5B" "0000149337" "MYO5B" "0000149338" "MYO5B" "0000149339" "MYO5B" "0000149340" "MYO5B" "0000149341" "MYO5B" "0000149342" "MYO5B" "0000149343" "MYO5B" "0000149344" "MYO5B" "0000149345" "MYO5B" "0000149346" "MYO5B" "0000149347" "MYO5B" "0000149348" "MYO5B" "0000149349" "MYO5B" "0000149350" "MYO5B" "0000149351" "MYO5B" "0000149352" "MYO5B" "0000149353" "MYO5B" "0000149354" "MYO5B" "0000149355" "MYO5B" "0000149356" "MYO5B" "0000149357" "MYO5B" "0000149358" "MYO5B" "0000149359" "MYO5B" "0000149360" "MYO5B" "0000149361" "MYO5B" "0000149362" "MYO5B" "0000149363" "MYO5B" "0000149364" "MYO5B" "0000149365" "MYO5B" "0000149366" "MYO5B" "0000149367" "MYO5B" "0000149368" "MYO5B" "0000149369" "MYO5B" "0000149370" "MYO5B" "0000149371" "MYO5B" "0000149372" "MYO5B" "0000149373" "MYO5B" "0000149374" "MYO5B" "0000307068" "MYO5B" "0000307351" "MYO5B" ## 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 = 190 "{{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}}" "0000242647" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242648" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242649" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242650" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242651" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242652" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242653" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000023" "g.47462646C>A" "" "{PMID:Erickson 2008:19006234}" "" "1977C > T (P660L)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242654" "3" "90" "18" "47489402" "47489402" "subst" "0" "00006" "MYO5B_000004" "g.47489402T>C" "" "{PMID:Guzoglu 2017:27575604}" "" "" "" "Germline" "" "" "0" "" "" "g.49963032T>C" "" "pathogenic" "" "0000242655" "3" "90" "18" "47500840" "47500840" "subst" "0" "00006" "MYO5B_000038" "g.47500840C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49974470C>T" "" "pathogenic" "" "0000242656" "3" "90" "18" "47527735" "47527735" "subst" "4.06233E-6" "00006" "MYO5B_000049" "g.47527735C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50001365C>T" "" "pathogenic" "" "0000242657" "3" "90" "18" "47462624" "47462624" "subst" "0" "00006" "MYO5B_000022" "g.47462624T>C" "" "{PMID:Ruemmele 2010:20186687}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242658" "3" "90" "18" "47506924" "47506924" "subst" "4.06875E-6" "00006" "MYO5B_000044" "g.47506924C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49980554C>T" "" "pathogenic" "" "0000242659" "3" "90" "18" "47511088" "47511088" "subst" "5.6881E-5" "00006" "MYO5B_000045" "g.47511088C>T" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49984718C>T" "" "pathogenic" "" "0000242660" "3" "90" "18" "47432876" "47432876" "del" "0" "00006" "MYO5B_000020" "g.47432876del" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49906506del" "" "pathogenic" "" "0000242661" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000024" "g.47462646G>A" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49936276G>A" "" "pathogenic" "" "0000242662" "3" "90" "18" "47462646" "47462646" "subst" "0" "00006" "MYO5B_000024" "g.47462646G>A" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49936276G>A" "" "pathogenic" "" "0000242663" "3" "90" "18" "47373609" "47373609" "subst" "0" "00006" "MYO5B_000012" "g.47373609G>A" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49847239G>A" "" "pathogenic" "" "0000242664" "3" "90" "18" "47489360" "47489368" "dup" "0" "00006" "MYO5B_000034" "g.47489360_47489368dup" "" "{PMID:Muller 2008:18724368}" "" "1362insAGTTCTGTA" "" "Germline" "" "" "0" "" "" "g.49962990_49962998dup" "" "pathogenic" "" "0000242665" "3" "90" "18" "47518758" "47518758" "subst" "0" "00006" "MYO5B_000047" "g.47518758C>T" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.49992388C>T" "" "pathogenic" "" "0000242666" "3" "90" "18" "47563352" "47563352" "subst" "0" "00006" "MYO5B_000052" "g.47563352A>C" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.50036982A>C" "" "pathogenic" "" "0000242667" "3" "90" "18" "47500917" "47500917" "subst" "1.22018E-5" "00006" "MYO5B_000039" "g.47500917C>T" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.49974547C>T" "" "pathogenic" "" "0000242668" "3" "90" "18" "47462659" "47462659" "subst" "1.74697E-5" "00006" "MYO5B_000025" "g.47462659G>A" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.49936289G>A" "" "pathogenic" "" "0000242669" "3" "90" "18" "47361716" "47361716" "subst" "0" "00006" "MYO5B_000005" "g.47361716G>A" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.49835346G>A" "" "pathogenic" "" "0000242670" "3" "90" "18" "47489402" "47489402" "subst" "0" "00006" "MYO5B_000004" "g.47489402T>C" "" "{PMID:Muller 2008:18724368}" "" "" "Turkish" "Germline" "" "" "0" "" "" "g.49963032T>C" "" "pathogenic" "" "0000242671" "3" "90" "18" "47367768" "47367769" "delins" "0" "00006" "MYO5B_000010" "g.47367768_47367769delinsGC" "" "{PMID:Ruemmele 2010:20186687}" "" "4667_4668TT>GC" "" "Germline" "" "" "0" "" "" "g.49841398_49841399delinsGC" "" "pathogenic" "" "0000242672" "1" "90" "18" "47563230" "47563230" "subst" "0" "00006" "MYO5B_000050" "g.47563230G>A" "" "{PMID:Chen 2011:21199752}, {PMID:Chiang 2013:23608388}" "" "" "" "Germline" "" "" "0" "" "" "g.50036860G>A" "" "pathogenic" "" "0000242673" "2" "90" "18" "47506849" "47506849" "subst" "2.03278E-5" "00006" "MYO5B_000042" "g.47506849G>A" "" "{PMID:Chen 2011:21199752}, {PMID:Chiang 2013:23608388}" "" "" "" "Germline" "" "" "0" "" "" "g.49980479G>A" "" "pathogenic" "" "0000242674" "1" "90" "18" "47402080" "47402080" "subst" "0" "00006" "MYO5B_000014" "g.47402080G>A" "" "{PMID:Fernandez Caamano 2015:25547668}" "" "" "" "Germline" "" "" "0" "" "" "g.49875710G>A" "" "pathogenic" "" "0000242675" "2" "90" "18" "47405401" "47405401" "subst" "8.13074E-6" "00006" "MYO5B_000015" "g.47405401G>A" "" "{PMID:Fernandez Caamano 2015:25547668}" "" "" "" "Germline" "" "" "0" "" "" "g.49879031G>A" "" "pathogenic" "" "0000242676" "1" "90" "18" "47361725" "47361725" "subst" "4.06438E-6" "00006" "MYO5B_000006" "g.47361725G>A" "" "{PMID:Fernandez Caamano 2015:25547668}" "" "" "" "Germline" "" "" "0" "" "" "g.49835355G>A" "" "pathogenic" "" "0000242677" "2" "90" "18" "47563230" "47563230" "subst" "0" "00006" "MYO5B_000050" "g.47563230G>A" "" "{PMID:Fernandez Caamano 2015:25547668}" "" "" "" "Germline" "" "" "0" "" "" "g.50036860G>A" "" "pathogenic" "" "0000242678" "1" "90" "18" "47429046" "47429046" "del" "0" "00006" "MYO5B_000018" "g.47429046del" "" "{PMID:Mao 2016:27984607}" "" "2729_2731delC" "" "Germline" "" "" "0" "" "" "g.49902676del" "" "pathogenic" "" "0000242679" "2" "90" "18" "47363256" "47363256" "subst" "0" "00006" "MYO5B_000007" "g.47363256C>G" "" "{PMID:Mao 2016:27984607}" "" "IVS37-1G>C" "" "Germline" "" "" "0" "" "" "g.49836886C>G" "" "pathogenic" "" "0000242680" "1" "90" "18" "47432941" "47432944" "dup" "0" "00006" "MYO5B_000001" "g.47432941_47432944dup" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49906571_49906574dup" "" "pathogenic" "" "0000242681" "2" "90" "18" "47405426" "47405428" "dup" "0" "00006" "MYO5B_000016" "g.47405426_47405428dup" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49879056_49879058dup" "" "pathogenic" "" "0000242682" "1" "90" "18" "47480769" "47480769" "subst" "0" "00006" "MYO5B_000031" "g.47480769G>A" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49954399G>A" "" "pathogenic" "" "0000242683" "2" "90" "18" "47500820" "47500820" "subst" "0" "00006" "MYO5B_000037" "g.47500820T>A" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49974450T>A" "" "pathogenic" "" "0000242684" "1" "90" "18" "47500820" "47500820" "subst" "0" "00006" "MYO5B_000037" "g.47500820T>A" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49974450T>A" "" "pathogenic" "" "0000242685" "2" "90" "18" "47480769" "47480769" "subst" "0" "00006" "MYO5B_000031" "g.47480769G>A" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49954399G>A" "" "pathogenic" "" "0000242686" "1" "90" "18" "47518758" "47518758" "subst" "0" "00006" "MYO5B_000047" "g.47518758C>T" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49992388C>T" "" "pathogenic" "" "0000242687" "2" "90" "18" "47380012" "47380012" "subst" "4.09453E-6" "00006" "MYO5B_000013" "g.47380012A>G" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49853642A>G" "" "pathogenic" "" "0000242688" "1" "90" "18" "47405426" "47405428" "dup" "0" "00006" "MYO5B_000016" "g.47405426_47405428dup" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49879056_49879058dup" "" "pathogenic" "" "0000242689" "2" "90" "18" "47489376" "47489376" "del" "0" "00006" "MYO5B_000035" "g.47489376del" "" "{PMID:Perry 2014:25111220}" "" "1347delC" "" "Germline" "" "" "0" "" "" "g.49963006del" "" "pathogenic" "" "0000242690" "1" "90" "18" "47489376" "47489376" "del" "0" "00006" "MYO5B_000035" "g.47489376del" "" "{PMID:Perry 2014:25111220}" "" "1347delC" "" "Germline" "" "" "0" "" "" "g.49963006del" "" "pathogenic" "" "0000242691" "2" "90" "18" "47405426" "47405428" "dup" "0" "00006" "MYO5B_000016" "g.47405426_47405428dup" "" "{PMID:Perry 2014:25111220}" "" "" "" "Germline" "" "" "0" "" "" "g.49879056_49879058dup" "" "pathogenic" "" "0000242692" "1" "90" "18" "47500739" "47500739" "subst" "0" "00006" "MYO5B_000036" "g.47500739C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49974369C>T" "" "pathogenic" "" "0000242693" "1" "90" "18" "47563247" "47563247" "subst" "0" "00006" "MYO5B_000051" "g.47563247G>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50036877G>T" "" "pathogenic" "" "0000242694" "2" "90" "18" "47581734" "47581734" "subst" "0" "00006" "MYO5B_000053" "g.47581734C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50055364C>T" "" "pathogenic" "" "0000242695" "1" "90" "18" "47581750" "47581750" "subst" "0" "00006" "MYO5B_000003" "g.47581750T>C" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50055380T>C" "" "pathogenic" "" "0000242696" "2" "90" "18" "47500840" "47500840" "subst" "0" "00006" "MYO5B_000038" "g.47500840C>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49974470C>T" "" "pathogenic" "" "0000242697" "1" "90" "18" "47365526" "47365526" "subst" "0" "00006" "MYO5B_000008" "g.47365526G>A" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49839156G>A" "" "pathogenic" "" "0000242698" "2" "90" "18" "47511168" "47511168" "subst" "0" "00006" "MYO5B_000046" "g.47511168G>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.49984798G>T" "" "pathogenic" "" "0000242699" "1" "90" "18" "47365610" "47365610" "dup" "0" "00006" "MYO5B_000009" "g.47365610dup" "" "{PMID:Ruemmele 2010:20186687}" "" "4755_4756dupT" "" "Germline" "" "" "0" "" "" "g.49839240dup" "" "pathogenic" "" "0000242700" "2" "90" "18" "47500932" "47500935" "del" "0" "00006" "MYO5B_000040" "g.47500932_47500935del" "" "{PMID:Ruemmele 2010:20186687}" "" "1110_1113delTCAG" "" "Germline" "" "" "0" "" "" "g.49974562_49974565del" "" "pathogenic" "" "0000242701" "1" "90" "18" "47721163" "47721163" "subst" "0" "00006" "MYO5B_000054" "g.47721163T>C" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50194793T>C" "" "pathogenic" "" "0000242702" "2" "90" "18" "47527680" "47527680" "subst" "0" "00006" "MYO5B_000048" "g.47527680G>T" "" "{PMID:Ruemmele 2010:20186687}" "" "" "" "Germline" "" "" "0" "" "" "g.50001310G>T" "" "pathogenic" "" "0000242703" "1" "90" "18" "47500955" "47500955" "subst" "0" "00006" "MYO5B_000041" "g.47500955G>A" "" "{PMID:Shahid 2011:21968248}" "" "" "white" "Germline" "" "" "0" "" "" "g.49974585G>A" "" "pathogenic" "" "0000242704" "1" "90" "18" "47506923" "47506923" "subst" "0" "00006" "MYO5B_000043" "g.47506923C>A" "" "{PMID:Shillingford 2015:25517957}" "" "" "" "Germline" "" "" "0" "" "" "g.49980553C>A" "" "pathogenic" "" "0000242705" "2" "90" "18" "47462720" "47462720" "subst" "0" "00006" "MYO5B_000026" "g.47462720C>T" "" "{PMID:Shillingford 2015:25517957}" "" "" "" "Germline" "" "" "0" "" "" "g.49936350C>T" "" "pathogenic" "" "0000242706" "1" "90" "18" "47432958" "47432958" "subst" "4.06977E-6" "00006" "MYO5B_000021" "g.47432958G>A" "" "{PMID:Szperl 2011:21206382}" "" "2246C>T (R749X)" "white" "Germline" "" "" "0" "" "" "g.49906588G>A" "" "pathogenic" "" "0000242707" "1" "90" "18" "47489356" "47489356" "subst" "0" "00006" "MYO5B_000033" "g.47489356T>C" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49962986T>C" "" "pathogenic" "" "0000242708" "2" "90" "18" "47488635" "47581749" "del" "0" "00006" "MYO5B_000002" "g.(47480806_47488635)_(47581749_47721136)del" "" "{PMID:Szperl 2011:21206382}" "" "del ex2-12" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242709" "1" "90" "18" "47369763" "47369763" "subst" "0" "00006" "MYO5B_000011" "g.47369763C>G" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49843393C>G" "" "pathogenic" "" "0000242710" "2" "90" "18" "47488641" "47488641" "subst" "0" "00006" "MYO5B_000032" "g.47488641A>G" "" "{PMID:Szperl 2011:21206382}" "" "" "" "Germline" "" "" "0" "" "" "g.49962271A>G" "" "pathogenic" "" "0000242711" "1" "90" "18" "47429104" "47429104" "subst" "0" "00006" "MYO5B_000019" "g.47429104G>A" "" "{PMID:Muller 2008:18724368}" "" "" "" "Germline" "" "" "0" "" "" "g.49902734G>A" "" "pathogenic" "" "0000242712" "1" "90" "18" "47406825" "47406825" "subst" "1.62599E-5" "00006" "MYO5B_000017" "g.47406825G>A" "" "{PMID:Muller 2008:18724368}" "" "" "" "Germline" "" "" "0" "" "" "g.49880455G>A" "" "pathogenic" "" "0000242713" "1" "90" "18" "47480738" "47480738" "subst" "0" "00006" "MYO5B_000029" "g.47480738A>G" "" "{PMID:Thoeni 2014:24138727}" "" "" "" "Germline" "" "" "0" "" "" "g.49954368A>G" "" "pathogenic" "" "0000242714" "2" "90" "18" "47480703" "47480703" "subst" "0" "00006" "MYO5B_000028" "g.47480703T>A" "" "{PMID:Thoeni 2014:24138727}" "" "" "" "Germline" "" "" "0" "" "" "g.49954333T>A" "" "pathogenic" "" "0000242715" "1" "90" "18" "47405426" "47405428" "dup" "0" "00006" "MYO5B_000016" "g.47405426_47405428dup" "" "unpublished" "" "3163_3165dupCTC" "Turkish" "Germline" "" "" "0" "" "" "g.49879056_49879058dup" "" "pathogenic" "" "0000242716" "0" "90" "18" "0" "0" "" "0" "00006" "MYO5B_000000" "g.?" "" "http://www.mvid-central.org" "" "c.5616-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242717" "0" "90" "18" "47480760" "47480760" "subst" "1.62526E-5" "00006" "MYO5B_000030" "g.47480760G>A" "" "unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.49954390G>A" "" "pathogenic" "" "0000242718" "1" "90" "18" "47463664" "47463664" "subst" "4.0622E-6" "00006" "MYO5B_000027" "g.47463664G>A" "" "unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.49937294G>A" "" "pathogenic" "" "0000248239" "0" "10" "18" "47488625" "47488625" "subst" "0.387429" "02325" "MYO5B_000078" "g.47488625A>G" "" "" "" "MYO5B(NM_001080467.3):c.1545+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49962255A>G" "" "benign" "" "0000250942" "0" "10" "18" "47488625" "47488625" "subst" "0.387429" "02326" "MYO5B_000078" "g.47488625A>G" "" "" "" "MYO5B(NM_001080467.3):c.1545+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49962255A>G" "" "benign" "" "0000251620" "0" "10" "18" "47405304" "47405304" "subst" "0.251758" "02326" "MYO5B_000066" "g.47405304A>G" "" "" "" "MYO5B(NM_001080467.3):c.3276+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49878934A>G" "" "benign" "" "0000251621" "0" "10" "18" "47455982" "47455982" "subst" "0" "02326" "MYO5B_000073" "g.47455982A>G" "" "" "" "MYO5B(NM_001080467.3):c.2004-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49929612A>G" "" "benign" "" "0000252404" "0" "70" "18" "47488655" "47488655" "subst" "0" "02326" "MYO5B_000092" "g.47488655A>G" "" "" "" "MYO5B(NM_001080467.3):c.1526T>C (p.L509P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49962285A>G" "" "likely pathogenic" "" "0000252556" "0" "90" "18" "47721162" "47721162" "subst" "0" "02326" "MYO5B_000091" "g.47721162A>T" "" "" "" "MYO5B(NM_001080467.3):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50194792A>T" "" "pathogenic" "" "0000252631" "0" "90" "18" "47721135" "47721135" "subst" "0" "02326" "MYO5B_000090" "g.47721135A>T" "" "" "" "MYO5B(NM_001080467.3):c.27+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50194765A>T" "" "pathogenic" "" "0000252816" "0" "10" "18" "47518652" "47518652" "subst" "0.0461429" "02326" "MYO5B_000084" "g.47518652A>G" "" "" "" "MYO5B(NM_001080467.3):c.756+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49992282A>G" "" "benign" "" "0000296241" "0" "10" "18" "47455923" "47455923" "subst" "0.468244" "02325" "MYO5B_000072" "g.47455923C>T" "" "" "" "MYO5B(NM_001080467.3):c.2049G>A (p.V683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49929553C>T" "" "benign" "" "0000296242" "0" "10" "18" "47563299" "47563299" "subst" "0.994448" "02325" "MYO5B_000086" "g.47563299T>C" "" "" "" "MYO5B(NM_001080467.3):c.376A>G (p.T126A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50036929T>C" "" "benign" "" "0000296243" "0" "10" "18" "47375932" "47375932" "subst" "0.402226" "02325" "MYO5B_000061" "g.47375932C>G" "" "" "" "MYO5B(NM_001080467.3):c.4315+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49849562C>G" "" "benign" "" "0000299823" "0" "50" "18" "47489319" "47489319" "subst" "8.13405E-6" "02326" "MYO5B_000079" "g.47489319C>T" "" "" "" "MYO5B(NM_001080467.3):c.1404G>A (p.S468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49962949C>T" "" "VUS" "" "0000299824" "0" "50" "18" "47480773" "47480773" "subst" "0" "02326" "MYO5B_000077" "g.47480773C>T" "" "" "" "MYO5B(NM_001080467.3):c.1578G>A (p.Q526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49954403C>T" "" "VUS" "" "0000299825" "0" "70" "18" "47462659" "47462659" "subst" "1.74697E-5" "02326" "MYO5B_000075" "g.47462659G>T" "" "" "" "MYO5B(NM_001080467.3):c.1966C>A (p.R656S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49936289G>T" "" "likely pathogenic" "" "0000299826" "0" "90" "18" "47462659" "47462659" "subst" "1.74697E-5" "02326" "MYO5B_000025" "g.47462659G>A" "" "" "" "MYO5B(NM_001080467.3):c.1966C>T (p.R656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49936289G>A" "" "pathogenic" "" "0000299827" "0" "10" "18" "47462657" "47462657" "subst" "0.011698" "02326" "MYO5B_000074" "g.47462657G>A" "" "" "" "MYO5B(NM_001080467.3):c.1968C>T (p.R656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49936287G>A" "" "benign" "" "0000299828" "0" "10" "18" "47455923" "47455923" "subst" "0.468244" "02326" "MYO5B_000072" "g.47455923C>T" "" "" "" "MYO5B(NM_001080467.3):c.2049G>A (p.V683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49929553C>T" "" "benign" "" "0000299829" "0" "70" "18" "47455915" "47455915" "subst" "0" "02326" "MYO5B_000071" "g.47455915G>A" "" "" "" "MYO5B(NM_001080467.3):c.2057C>T (p.T686M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49929545G>A" "" "likely pathogenic" "" "0000299830" "0" "90" "18" "47429154" "47429154" "subst" "0" "02326" "MYO5B_000069" "g.47429154C>T" "" "" "" "MYO5B(NM_001080467.3):c.2621G>A (p.W874*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49902784C>T" "" "pathogenic" "" "0000299831" "0" "10" "18" "47429022" "47429022" "subst" "0.15233" "02326" "MYO5B_000068" "g.47429022C>T" "" "" "" "MYO5B(NM_001080467.3):c.2753G>A (p.R918H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49902652C>T" "" "benign" "" "0000299832" "0" "10" "18" "47398549" "47398549" "subst" "0.25458" "02326" "MYO5B_000065" "g.47398549G>A" "" "" "" "MYO5B(NM_001080467.3):c.3591C>T (p.Y1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49872179G>A" "" "benign" "" "0000299833" "0" "10" "18" "47563299" "47563299" "subst" "0.994448" "02326" "MYO5B_000086" "g.47563299T>C" "" "" "" "MYO5B(NM_001080467.3):c.376A>G (p.T126A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50036929T>C" "" "benign" "" "0000299834" "0" "10" "18" "47383243" "47383243" "subst" "0.120384" "02326" "MYO5B_000062" "g.47383243C>T" "" "" "" "MYO5B(NM_001080467.3):c.3962G>A (p.G1321E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49856873C>T" "" "benign" "" "0000299835" "0" "10" "18" "47375932" "47375932" "subst" "0.402226" "02326" "MYO5B_000061" "g.47375932C>G" "" "" "" "MYO5B(NM_001080467.3):c.4315+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49849562C>G" "" "benign" "" "0000299836" "0" "10" "18" "47369758" "47369758" "subst" "0.122141" "02326" "MYO5B_000060" "g.47369758C>T" "" "" "" "MYO5B(NM_001080467.3):c.4464G>A (p.L1488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49843388C>T" "" "benign" "" "0000299837" "0" "70" "18" "47365522" "47365522" "subst" "1.62485E-5" "02326" "MYO5B_000058" "g.47365522G>A" "" "" "" "MYO5B(NM_001080467.3):c.4844C>T (p.P1615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49839152G>A" "" "likely pathogenic" "" "0000299838" "0" "10" "18" "47363963" "47363963" "subst" "0" "02326" "MYO5B_000057" "g.47363963T>C" "" "" "" "MYO5B(NM_001080467.3):c.5062A>G (p.M1688V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49837593T>C" "" "benign" "" "0000299839" "0" "50" "18" "47518759" "47518759" "subst" "8.12367E-6" "02326" "MYO5B_000085" "g.47518759G>A" "" "" "" "MYO5B(NM_001080467.2):c.655C>T (p.R219C), MYO5B(NM_001080467.3):c.655C>T (p.R219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49992389G>A" "" "VUS" "" "0000299840" "0" "90" "18" "47511163" "47511163" "subst" "0" "02326" "MYO5B_000083" "g.47511163C>A" "" "" "" "MYO5B(NM_001080467.3):c.871G>T (p.G291*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49984793C>A" "" "pathogenic" "" "0000299841" "0" "10" "18" "47511113" "47511113" "subst" "0.0515429" "02326" "MYO5B_000081" "g.47511113C>A" "" "" "" "MYO5B(NM_001080467.3):c.921G>T (p.K307N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49984743C>A" "" "benign" "" "0000299842" "0" "90" "18" "47511088" "47511088" "subst" "5.6881E-5" "02326" "MYO5B_000045" "g.47511088C>T" "" "" "" "MYO5B(NM_001080467.3):c.946G>A (p.G316R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49984718C>T" "" "pathogenic" "" "0000299843" "0" "30" "18" "47506874" "47506874" "subst" "0.00364771" "02326" "MYO5B_000080" "g.47506874G>T" "" "" "" "MYO5B(NM_001080467.3):c.996C>A (p.I332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49980504G>T" "" "likely benign" "" "0000302701" "0" "30" "18" "47566663" "47566663" "subst" "0.000125892" "01943" "MYO5B_000088" "g.47566663C>T" "" "" "" "MYO5B(NM_001080467.2):c.160G>A (p.V54I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50040293C>T" "" "likely benign" "" "0000302702" "0" "30" "18" "47479669" "47479669" "subst" "0.000698823" "01943" "MYO5B_000076" "g.47479669C>G" "" "" "" "MYO5B(NM_001080467.2):c.1713G>C (p.T571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49953299C>G" "" "likely benign" "" "0000302703" "0" "50" "18" "47566640" "47566640" "subst" "0.000779714" "01943" "MYO5B_000087" "g.47566640G>C" "" "" "" "MYO5B(NM_001080467.2):c.183C>G (p.F61L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50040270G>C" "" "VUS" "" "0000302704" "0" "50" "18" "47429160" "47429160" "subst" "0" "01943" "MYO5B_000070" "g.47429160C>T" "" "" "" "MYO5B(NM_001080467.2):c.2615G>A (p.R872Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49902790C>T" "" "VUS" "" "0000302705" "0" "30" "18" "47421325" "47421325" "subst" "0.00201981" "01943" "MYO5B_000067" "g.47421325C>T" "" "" "" "MYO5B(NM_001080467.2):c.3031G>A (p.D1011N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49894955C>T" "" "likely benign" "" "0000302706" "0" "50" "18" "47390716" "47390716" "subst" "0.00183234" "01943" "MYO5B_000064" "g.47390716T>A" "" "" "" "MYO5B(NM_001080467.2):c.3638A>T (p.K1213M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864346T>A" "" "VUS" "" "0000302707" "0" "30" "18" "47390526" "47390526" "subst" "0.00163361" "01943" "MYO5B_000063" "g.47390526G>A" "" "" "" "MYO5B(NM_001080467.2):c.3828C>T (p.L1276=), MYO5B(NM_001080467.3):c.3828C>T (p.L1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864156G>A" "" "likely benign" "" "0000302708" "0" "30" "18" "47352999" "47352999" "subst" "0.00316389" "01943" "MYO5B_000056" "g.47352999G>A" "" "" "" "MYO5B(NM_001080467.2):c.5395-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49826629G>A" "" "likely benign" "" "0000302709" "0" "30" "18" "47352939" "47352939" "subst" "0" "01943" "MYO5B_000055" "g.47352939T>C" "" "" "" "MYO5B(NM_001080467.2):c.5449A>G (p.M1817V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49826569T>C" "" "likely benign" "" "0000302710" "0" "30" "18" "47511134" "47511134" "subst" "6.09389E-5" "01943" "MYO5B_000082" "g.47511134G>A" "" "" "" "MYO5B(NM_001080467.2):c.900C>T (p.D300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49984764G>A" "" "likely benign" "" "0000325916" "0" "50" "18" "47369733" "47369733" "subst" "2.84428E-5" "01804" "MYO5B_000059" "g.47369733C>T" "" "" "" "MYO5B(NM_001080467.2):c.4489G>A (p.(Val1497Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49843363C>T" "" "VUS" "" "0000325917" "0" "50" "18" "47581751" "47581751" "subst" "4.09259E-6" "01804" "MYO5B_000089" "g.47581751G>T" "" "" "" "MYO5B(NM_001080467.2):c.28-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50055381G>T" "" "VUS" "" "0000565009" "0" "50" "18" "47363122" "47363133" "del" "0" "01943" "MYO5B_000093" "g.47363122_47363133del" "" "" "" "MYO5B(NM_001080467.2):c.5264_5275delAGGACGCAGAGG (p.E1755_E1758del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49836752_49836763del" "" "VUS" "" "0000565010" "0" "30" "18" "47365673" "47365673" "subst" "0.00119812" "01943" "MYO5B_000094" "g.47365673G>A" "" "" "" "MYO5B(NM_001080467.2):c.4702-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49839303G>A" "" "likely benign" "" "0000565013" "0" "30" "18" "47379895" "47379895" "subst" "0.0189277" "01804" "MYO5B_000097" "g.47379895G>A" "" "" "" "MYO5B(NM_001080467.2):c.4145C>T (p.(Thr1382Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49853525G>A" "" "likely benign" "" "0000565015" "0" "30" "18" "47390522" "47390522" "subst" "1.65935E-5" "01943" "MYO5B_000099" "g.47390522C>T" "" "" "" "MYO5B(NM_001080467.2):c.3832G>A (p.G1278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49864152C>T" "" "likely benign" "" "0000565016" "0" "90" "18" "47402055" "47402055" "subst" "8.12466E-6" "02325" "MYO5B_000100" "g.47402055A>C" "" "" "" "MYO5B(NM_001080467.3):c.3537+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49875685A>C" "" "pathogenic" "" "0000565017" "0" "30" "18" "47431128" "47431128" "subst" "7.71981E-5" "01943" "MYO5B_000101" "g.47431128G>A" "" "" "" "MYO5B(NM_001080467.2):c.2485C>T (p.R829C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49904758G>A" "" "likely benign" "" "0000565018" "0" "30" "18" "47432860" "47432860" "subst" "0.00288061" "01943" "MYO5B_000102" "g.47432860C>G" "" "" "" "MYO5B(NM_001080467.2):c.2343G>C (p.K781N), MYO5B(NM_001080467.3):c.2343G>C (p.K781N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49906490C>G" "" "likely benign" "" "0000565020" "0" "30" "18" "47479703" "47479703" "subst" "6.50338E-5" "01804" "MYO5B_000103" "g.47479703A>C" "" "" "" "MYO5B(NM_001080467.2):c.1679T>G (p.(Leu560Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49953333A>C" "" "likely benign" "" "0000565021" "0" "50" "18" "47480805" "47480805" "subst" "0.000455281" "01943" "MYO5B_000104" "g.47480805C>T" "" "" "" "MYO5B(NM_001080467.2):c.1546G>A (p.V516I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49954435C>T" "" "VUS" "" "0000565022" "0" "10" "18" "47500836" "47500836" "subst" "0.0586956" "02326" "MYO5B_000105" "g.47500836G>A" "" "" "" "MYO5B(NM_001080467.3):c.1206C>T (p.N402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49974466G>A" "" "benign" "" "0000565023" "0" "30" "18" "47500989" "47500989" "subst" "0.00238242" "01804" "MYO5B_000106" "g.47500989T>C" "" "" "" "MYO5B(NM_001080467.2):c.1057-4A>G (p.?), MYO5B(NM_001080467.3):c.1057-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49974619T>C" "" "likely benign" "" "0000565024" "0" "50" "18" "47506839" "47506839" "subst" "0.00167096" "01943" "MYO5B_000107" "g.47506839C>T" "" "" "" "MYO5B(NM_001080467.2):c.1031G>A (p.R344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49980469C>T" "" "VUS" "" "0000565025" "0" "30" "18" "47511108" "47511108" "subst" "0.00021125" "01804" "MYO5B_000108" "g.47511108C>T" "" "" "" "MYO5B(NM_001080467.2):c.926G>A (p.(Arg309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49984738C>T" "" "likely benign" "" "0000565026" "0" "30" "18" "47516867" "47516867" "subst" "0.000170732" "01943" "MYO5B_000109" "g.47516867G>A" "" "" "" "MYO5B(NM_001080467.2):c.780C>T (p.H260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49990497G>A" "" "likely benign" "" "0000565027" "0" "30" "18" "47566647" "47566647" "subst" "0.0213041" "01804" "MYO5B_000110" "g.47566647A>G" "" "" "" "MYO5B(NM_001080467.2):c.176T>C (p.(Leu59Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50040277A>G" "" "likely benign" "" "0000565028" "0" "30" "18" "47566656" "47566656" "subst" "0.000365494" "01943" "MYO5B_000111" "g.47566656C>A" "" "" "" "MYO5B(NM_001080467.2):c.167G>T (p.R56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50040286C>A" "" "likely benign" "" "0000617194" "0" "30" "18" "47455995" "47455996" "dup" "0" "02326" "MYO5B_000112" "g.47455995_47455996dup" "" "" "" "MYO5B(NM_001080467.3):c.2004-15_2004-14dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49929625_49929626dup" "" "likely benign" "" "0000617196" "0" "50" "18" "47518759" "47518759" "subst" "8.12367E-6" "01943" "MYO5B_000085" "g.47518759G>A" "" "" "" "MYO5B(NM_001080467.2):c.655C>T (p.R219C), MYO5B(NM_001080467.3):c.655C>T (p.R219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49992389G>A" "" "VUS" "" "0000623864" "0" "30" "18" "47500989" "47500989" "subst" "0.00238242" "02325" "MYO5B_000106" "g.47500989T>C" "" "" "" "MYO5B(NM_001080467.2):c.1057-4A>G (p.?), MYO5B(NM_001080467.3):c.1057-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49974619T>C" "" "likely benign" "" "0000623865" "0" "30" "18" "47566616" "47566616" "subst" "0" "02325" "MYO5B_000113" "g.47566616C>A" "" "" "" "MYO5B(NM_001080467.3):c.207G>T (p.V69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50040246C>A" "" "likely benign" "" "0000649831" "1" "10" "18" "47506839" "47506839" "subst" "0.00167096" "03575" "MYO5B_000107" "g.47506839C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs189027956}" "Germline" "" "rs189027956" "0" "" "" "g.49980469C>T" "" "benign" "" "0000649832" "1" "30" "18" "47566647" "47566647" "subst" "0.0213041" "03575" "MYO5B_000110" "g.47566647A>G" "188/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "188 heterozygous; {DB:CLININrs78626055}" "Germline" "" "rs78626055" "0" "" "" "g.50040277A>G" "" "likely benign" "" "0000658400" "0" "30" "18" "47398527" "47398527" "subst" "0" "01943" "MYO5B_000114" "g.47398527A>G" "" "" "" "MYO5B(NM_001080467.2):c.3603+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49872157A>G" "" "likely benign" "" "0000658401" "0" "30" "18" "47398579" "47398579" "subst" "0" "01943" "MYO5B_000115" "g.47398579T>C" "" "" "" "MYO5B(NM_001080467.2):c.3561A>G (p.I1187M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49872209T>C" "" "likely benign" "" "0000658402" "0" "30" "18" "47455929" "47455929" "subst" "0.000119877" "01943" "MYO5B_000116" "g.47455929G>A" "" "" "" "MYO5B(NM_001080467.2):c.2043C>T (p.C681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49929559G>A" "" "likely benign" "" "0000669448" "3" "30" "18" "47566647" "47566647" "subst" "0.0213041" "03575" "MYO5B_000110" "g.47566647A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs78626055}" "Germline" "" "rs78626055" "0" "" "" "g.50040277A>G" "" "likely benign" "" "0000673611" "2" "70" "18" "47500736" "47500736" "subst" "0" "03695" "MYO5B_000117" "g.47500736C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673612" "2" "70" "18" "47405401" "47405401" "subst" "8.13074E-6" "03695" "MYO5B_000015" "g.47405401G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673976" "0" "50" "18" "47721162" "47721162" "subst" "0" "03695" "MYO5B_000119" "g.47721162A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000673977" "0" "50" "18" "47500841" "47500841" "subst" "0" "03695" "MYO5B_000118" "g.47500841G>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000681167" "0" "30" "18" "47352955" "47352955" "subst" "0" "01804" "MYO5B_000120" "g.47352955T>G" "" "" "" "MYO5B(NM_001080467.2):c.5433A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681168" "0" "90" "18" "47363080" "47363080" "subst" "0" "02325" "MYO5B_000121" "g.47363080C>T" "" "" "" "MYO5B(NM_001080467.3):c.5313+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681169" "0" "50" "18" "47500954" "47500954" "subst" "3.67056E-5" "02325" "MYO5B_000122" "g.47500954C>T" "" "" "" "MYO5B(NM_001080467.3):c.1088G>A (p.R363Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682869" "0" "70" "18" "47455958" "47455958" "subst" "0" "02551" "MYO5B_000123" "g.47455958T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000692611" "0" "50" "18" "47369741" "47369741" "subst" "0.000272287" "01943" "MYO5B_000124" "g.47369741G>A" "" "" "" "MYO5B(NM_001080467.2):c.4481C>T (p.S1494L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692612" "0" "50" "18" "47506840" "47506840" "subst" "0" "02325" "MYO5B_000125" "g.47506840G>A" "" "" "" "MYO5B(NM_001080467.3):c.1030C>T (p.R344C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692613" "0" "50" "18" "47566627" "47566627" "subst" "4.06098E-6" "02325" "MYO5B_000126" "g.47566627C>A" "" "" "" "MYO5B(NM_001080467.3):c.196G>T (p.D66Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692614" "0" "30" "18" "47566657" "47566657" "subst" "2.03052E-5" "01943" "MYO5B_000127" "g.47566657G>A" "" "" "" "MYO5B(NM_001080467.2):c.166C>T (p.R56C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726913" "0" "50" "18" "47365553" "47365553" "subst" "0" "01943" "MYO5B_000128" "g.47365553G>A" "" "" "" "MYO5B(NM_001080467.2):c.4813C>T (p.L1605F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726914" "0" "50" "18" "47375981" "47375981" "subst" "3.24892E-5" "02325" "MYO5B_000129" "g.47375981T>C" "" "" "" "MYO5B(NM_001080467.3):c.4271A>G (p.K1424R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726915" "0" "50" "18" "47405416" "47405416" "subst" "8.27849E-6" "01943" "MYO5B_000130" "g.47405416C>T" "" "" "" "MYO5B(NM_001080467.2):c.3175G>A (p.E1059K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726916" "0" "30" "18" "47462612" "47462612" "subst" "0" "01943" "MYO5B_000131" "g.47462612A>G" "" "" "" "MYO5B(NM_001080467.2):c.2003+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726917" "0" "50" "18" "47518759" "47518759" "subst" "8.12367E-6" "02329" "MYO5B_000085" "g.47518759G>A" "" "" "" "MYO5B(NM_001080467.2):c.655C>T (p.R219C), MYO5B(NM_001080467.3):c.655C>T (p.R219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726918" "0" "50" "18" "47527696" "47527696" "subst" "5.68745E-5" "01943" "MYO5B_000132" "g.47527696C>T" "" "" "" "MYO5B(NM_001080467.2):c.541G>A (p.A181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808521" "0" "30" "18" "47455896" "47455896" "subst" "0.00549547" "01943" "MYO5B_000133" "g.47455896A>G" "" "" "" "MYO5B(NM_001080467.2):c.2076T>C (p.A692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808522" "0" "30" "18" "47511170" "47511170" "subst" "2.03176E-5" "01943" "MYO5B_000134" "g.47511170T>C" "" "" "" "MYO5B(NM_001080467.2):c.864A>G (p.T288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855321" "0" "30" "18" "47373535" "47373535" "subst" "8.12242E-5" "01943" "MYO5B_000135" "g.47373535G>A" "" "" "" "MYO5B(NM_001080467.2):c.4440C>T (p.L1480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855322" "0" "30" "18" "47429197" "47429197" "subst" "2.13052E-5" "01943" "MYO5B_000136" "g.47429197T>C" "" "" "" "MYO5B(NM_001080467.2):c.2578A>G (p.M860V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855323" "0" "30" "18" "47431052" "47431052" "subst" "0" "01943" "MYO5B_000137" "g.47431052G>T" "" "" "" "MYO5B(NM_001080467.2):c.2561C>A (p.T854N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855324" "0" "10" "18" "47433007" "47433007" "subst" "0.00359518" "02326" "MYO5B_000138" "g.47433007A>G" "" "" "" "MYO5B(NM_001080467.3):c.2203-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855325" "0" "90" "18" "47563332" "47563332" "subst" "0" "02327" "MYO5B_000140" "g.47563332G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865712" "0" "50" "18" "47500907" "47500907" "subst" "0.000101672" "01943" "MYO5B_000139" "g.47500907G>A" "" "" "" "MYO5B(NM_001080467.2):c.1135C>T (p.R379C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894593" "0" "30" "18" "47432860" "47432860" "subst" "0.00288061" "02326" "MYO5B_000102" "g.47432860C>G" "" "" "" "MYO5B(NM_001080467.2):c.2343G>C (p.K781N), MYO5B(NM_001080467.3):c.2343G>C (p.K781N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915070" "0" "50" "18" "47352915" "47352915" "subst" "0" "02325" "MYO5B_000141" "g.47352915T>A" "" "" "" "MYO5B(NM_001080467.3):c.5473A>T (p.N1825Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915071" "0" "10" "18" "47405426" "47405428" "dup" "0" "02326" "MYO5B_000016" "g.47405426_47405428dup" "" "" "" "MYO5B(NM_001080467.3):c.3163_3165dupCTC (p.L1055dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915072" "0" "50" "18" "47431142" "47431142" "subst" "2.03169E-5" "02325" "MYO5B_000142" "g.47431142C>T" "" "" "" "MYO5B(NM_001080467.3):c.2471G>A (p.R824H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915073" "0" "50" "18" "47432792" "47432792" "subst" "4.47868E-5" "02325" "MYO5B_000143" "g.47432792C>T" "" "" "" "MYO5B(NM_001080467.3):c.2411G>A (p.R804H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915074" "0" "30" "18" "47432975" "47432975" "subst" "0.00204659" "02326" "MYO5B_000144" "g.47432975C>T" "" "" "" "MYO5B(NM_001080467.3):c.2228G>A (p.R743H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915075" "0" "50" "18" "47518708" "47518708" "subst" "3.65622E-5" "02325" "MYO5B_000145" "g.47518708C>T" "" "" "" "MYO5B(NM_001080467.3):c.706G>A (p.G236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930967" "0" "30" "18" "47390526" "47390526" "subst" "0.00163361" "02326" "MYO5B_000063" "g.47390526G>A" "" "" "" "MYO5B(NM_001080467.2):c.3828C>T (p.L1276=), MYO5B(NM_001080467.3):c.3828C>T (p.L1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951147" "0" "30" "18" "47463727" "47463727" "subst" "0.00179982" "02326" "MYO5B_000146" "g.47463727G>A" "" "" "" "MYO5B(NM_001080467.3):c.1793C>T (p.P598L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951148" "0" "70" "18" "47500867" "47500867" "subst" "4.06474E-6" "02326" "MYO5B_000147" "g.47500867A>G" "" "" "" "MYO5B(NM_001080467.3):c.1175T>C (p.M392T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951149" "0" "70" "18" "47500978" "47500978" "subst" "0" "02325" "MYO5B_000148" "g.47500978T>A" "" "" "" "MYO5B(NM_001080467.3):c.1064A>T (p.D355V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951150" "0" "30" "18" "47511137" "47511137" "subst" "0.00267708" "02326" "MYO5B_000149" "g.47511137C>A" "" "" "" "MYO5B(NM_001080467.3):c.897G>T (p.V299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969431" "0" "10" "18" "47405426" "47405428" "dup" "0" "02329" "MYO5B_000016" "g.47405426_47405428dup" "" "" "" "MYO5B(NM_001080467.3):c.3163_3165dupCTC (p.L1055dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983063" "0" "50" "18" "47367772" "47367772" "subst" "9.74952E-5" "01804" "MYO5B_000150" "g.47367772C>T" "" "" "" "MYO5B(NM_001080467.3):c.4664G>A (p.(Arg1555His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983064" "0" "50" "18" "47431182" "47431182" "subst" "7.32368E-5" "01804" "MYO5B_000151" "g.47431182G>A" "" "" "" "MYO5B(NM_001080467.3):c.2431C>T (p.(Arg811Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983065" "0" "30" "18" "47455872" "47455872" "subst" "0.000165975" "01804" "MYO5B_000152" "g.47455872C>T" "" "" "" "MYO5B(NM_001080467.3):c.2090+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983067" "0" "50" "18" "47488775" "47488775" "del" "0" "01804" "MYO5B_000153" "g.47488775del" "" "" "" "MYO5B(NM_001080467.3):c.1406del (p.(His469Leufs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983068" "0" "50" "18" "47511141" "47511141" "subst" "0" "01804" "MYO5B_000154" "g.47511141C>T" "" "" "" "MYO5B(NM_001080467.3):c.893G>A (p.(Gly298Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004148" "0" "90" "18" "47373609" "47373609" "subst" "0" "02327" "MYO5B_000012" "g.47373609G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015706" "0" "30" "18" "47398568" "47398568" "subst" "0.000341172" "02326" "MYO5B_000155" "g.47398568G>A" "" "" "" "MYO5B(NM_001080467.3):c.3572C>T (p.P1191L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042453" "0" "50" "18" "47438509" "47438509" "subst" "0" "01804" "MYO5B_000157" "g.47438509C>A" "" "" "" "MYO5B(NM_001080467.3):c.2125G>T (p.(Val709Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042454" "0" "50" "18" "47500928" "47500928" "subst" "1.62747E-5" "01804" "MYO5B_000158" "g.47500928T>A" "" "" "" "MYO5B(NM_001080467.3):c.1114A>T (p.(Met372Leu))" "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 MYO5B ## Count = 190 "{{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}}" "0000242647" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242648" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242649" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242650" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242651" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242652" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242653" "00014179" "90" "1979" "0" "1979" "0" "c.1979G>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242654" "00014179" "90" "1323" "-2" "1323" "-2" "c.1323-2A>G" "r.spl" "p.?" "10i" "0000242655" "00014179" "90" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401His)" "10" "0000242656" "00014179" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Arg)" "5" "0000242657" "00014179" "90" "2003" "-2" "2003" "-2" "c.2003-2A>G" "r.spl" "p.?" "16i" "0000242658" "00014179" "90" "947" "-1" "947" "-1" "c.947-1G>A" "r.spl" "p.?" "8i" "0000242659" "00014179" "90" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Arg)" "8" "0000242660" "00014179" "90" "2330" "0" "2330" "0" "c.2330del" "r.(?)" "p.(Gly777Aspfs*6)" "19" "0000242661" "00014179" "90" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242662" "00014179" "90" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Pro660Leu)" "16" "0000242663" "00014179" "90" "4366" "0" "4366" "0" "c.4366C>T" "r.(?)" "p.(Gln1456*)" "33" "0000242664" "00014179" "90" "1355" "0" "1363" "0" "c.1355_1363dup" "r.(?)" "p.(Cys454_Ile455insLysPheCys)" "11" "0000242665" "00014179" "90" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "6" "0000242666" "00014179" "90" "323" "0" "323" "0" "c.323T>G" "r.(?)" "p.(Val108Gly)" "4" "0000242667" "00014179" "90" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Trp375*)" "10" "0000242668" "00014179" "90" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "16" "0000242669" "00014179" "90" "5392" "0" "5392" "0" "c.5392C>T" "r.(?)" "p.(Gln1798*)" "39" "0000242670" "00014179" "90" "1323" "-2" "1323" "-2" "c.1323-2A>G" "r.spl" "p.?" "10i" "0000242671" "00014179" "90" "4667" "0" "4668" "0" "c.4667_4668delinsGC" "r.(?)" "p.(Leu1556Arg)" "35" "0000242672" "00014179" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "4" "0000242673" "00014179" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Gln341*)" "9" "0000242674" "00014179" "90" "3514" "0" "3514" "0" "c.3514C>T" "r.(?)" "p.(Gln1172*)" "26" "0000242675" "00014179" "90" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064*)" "24" "0000242676" "00014179" "90" "5383" "0" "5383" "0" "c.5383C>T" "r.(?)" "p.(Arg1795*)" "39" "0000242677" "00014179" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "4" "0000242678" "00014179" "90" "2731" "0" "2731" "0" "c.2731del" "r.(?)" "p.(Arg911Alafs*6)" "21" "0000242679" "00014179" "90" "5139" "-1" "5139" "-1" "c.5139-1G>C" "r.spl" "p.?" "37i" "0000242680" "00014179" "90" "2259" "0" "2262" "0" "c.2259_2262dup" "r.(?)" "p.(Tyr755Glyfs*9)" "19" "0000242681" "00014179" "90" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "24" "0000242682" "00014179" "90" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Leu528Phe)" "13" "0000242683" "00014179" "90" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Ile408Phe)" "10" "0000242684" "00014179" "90" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Ile408Phe)" "10" "0000242685" "00014179" "90" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Leu528Phe)" "13" "0000242686" "00014179" "90" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "6" "0000242687" "00014179" "90" "4028" "0" "4028" "0" "c.4028T>C" "r.(?)" "p.(Leu1343Pro)" "31" "0000242688" "00014179" "90" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "24" "0000242689" "00014179" "90" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Phe450Leufs*30)" "11" "0000242690" "00014179" "90" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Phe450Leufs*30)" "11" "0000242691" "00014179" "90" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "24" "0000242692" "00014179" "90" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Gly435Arg)" "10" "0000242693" "00014179" "90" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Ala143Glu)" "4" "0000242694" "00014179" "90" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Trp14*)" "2" "0000242695" "00014179" "90" "28" "-2" "28" "-2" "c.28-2A>G" "r.spl" "p.?" "1i" "0000242696" "00014179" "90" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401His)" "10" "0000242697" "00014179" "90" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Gln1614*)" "36" "0000242698" "00014179" "90" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Ser289*)" "8" "0000242699" "00014179" "90" "4756" "0" "4756" "0" "c.4756dup" "r.(?)" "p.(Asp1586Glyfs*11)" "36" "0000242700" "00014179" "90" "1110" "0" "1113" "0" "c.1110_1113del" "r.(?)" "p.(Ser370Argfs*27)" "10" "0000242701" "00014179" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000242702" "00014179" "90" "557" "0" "557" "0" "c.557C>A" "r.(?)" "p.(Ser186*)" "5" "0000242703" "00014179" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363*)" "10" "0000242704" "00014179" "90" "947" "0" "947" "0" "c.947G>T" "r.(?)" "p.(Gly316Val)" "9" "0000242705" "00014179" "90" "1906" "-1" "1906" "-1" "c.1906-1G>A" "r.spl" "p.?" "15i" "0000242706" "00014179" "90" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749*)" "19" "0000242707" "00014179" "90" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Asn456Ser)" "11" "0000242708" "00014179" "90" "28" "-1" "1545" "1" "c.(27+1_28-1)_(1545+1_1546-1)del" "r.?" "p.?" "1i_12i" "0000242709" "00014179" "90" "4460" "-1" "4460" "-1" "c.4460-1G>C" "r.spl" "p.?" "33i" "0000242710" "00014179" "90" "1540" "0" "1540" "0" "c.1540T>C" "r.(?)" "p.(Cys514Arg)" "12" "0000242711" "00014179" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891*)" "21" "0000242712" "00014179" "90" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Arg1016*)" "23" "0000242713" "00014179" "90" "1613" "0" "1613" "0" "c.1613T>C" "r.(?)" "p.(Phe538Ser)" "13" "0000242714" "00014179" "90" "1648" "0" "1648" "0" "c.1648A>T" "r.(?)" "p.(Ile550Phe)" "13" "0000242715" "00014179" "90" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "24" "0000242716" "00014179" "90" "0" "0" "0" "0" "c.?" "r.spl" "p.?" "40i" "0000242717" "00014179" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Trp)" "13" "0000242718" "00014179" "90" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "15" "0000248239" "00014179" "10" "1545" "11" "1545" "11" "c.1545+11T>C" "r.(=)" "p.(=)" "12i" "0000250942" "00014179" "10" "1545" "11" "1545" "11" "c.1545+11T>C" "r.(=)" "p.(=)" "12i" "0000251620" "00014179" "10" "3276" "11" "3276" "11" "c.3276+11T>C" "r.(=)" "p.(=)" "" "0000251621" "00014179" "10" "2004" "-14" "2004" "-14" "c.2004-14T>C" "r.(=)" "p.(=)" "" "0000252404" "00014179" "70" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Leu509Pro)" "12i" "0000252556" "00014179" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "0000252631" "00014179" "90" "27" "2" "27" "2" "c.27+2T>A" "r.spl?" "p.?" "1i" "0000252816" "00014179" "10" "756" "6" "756" "6" "c.756+6T>C" "r.(=)" "p.(=)" "6i" "0000296241" "00014179" "10" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Val683=)" "" "0000296242" "00014179" "10" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Thr126Ala)" "4" "0000296243" "00014179" "10" "4315" "5" "4315" "5" "c.4315+5G>C" "r.spl?" "p.?" "" "0000299823" "00014179" "50" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Ser468=)" "11" "0000299824" "00014179" "50" "1578" "0" "1578" "0" "c.1578G>A" "r.(?)" "p.(Gln526=)" "" "0000299825" "00014179" "70" "1966" "0" "1966" "0" "c.1966C>A" "r.(?)" "p.(Arg656Ser)" "" "0000299826" "00014179" "90" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0000299827" "00014179" "10" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Arg656=)" "" "0000299828" "00014179" "10" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Val683=)" "" "0000299829" "00014179" "70" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Thr686Met)" "" "0000299830" "00014179" "90" "2621" "0" "2621" "0" "c.2621G>A" "r.(?)" "p.(Trp874Ter)" "" "0000299831" "00014179" "10" "2753" "0" "2753" "0" "c.2753G>A" "r.(?)" "p.(Arg918His)" "" "0000299832" "00014179" "10" "3591" "0" "3591" "0" "c.3591C>T" "r.(?)" "p.(Tyr1197=)" "" "0000299833" "00014179" "10" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Thr126Ala)" "4" "0000299834" "00014179" "10" "3962" "0" "3962" "0" "c.3962G>A" "r.(?)" "p.(Gly1321Glu)" "" "0000299835" "00014179" "10" "4315" "5" "4315" "5" "c.4315+5G>C" "r.spl?" "p.?" "" "0000299836" "00014179" "10" "4464" "0" "4464" "0" "c.4464G>A" "r.(?)" "p.(Leu1488=)" "" "0000299837" "00014179" "70" "4844" "0" "4844" "0" "c.4844C>T" "r.(?)" "p.(Pro1615Leu)" "" "0000299838" "00014179" "10" "5062" "0" "5062" "0" "c.5062A>G" "r.(?)" "p.(Met1688Val)" "" "0000299839" "00014179" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "6i" "0000299840" "00014179" "90" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Gly291Ter)" "8" "0000299841" "00014179" "10" "921" "0" "921" "0" "c.921G>T" "r.(?)" "p.(Lys307Asn)" "8" "0000299842" "00014179" "90" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Arg)" "8" "0000299843" "00014179" "30" "996" "0" "996" "0" "c.996C>A" "r.(?)" "p.(Ile332=)" "9" "0000302701" "00014179" "30" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Ile)" "3" "0000302702" "00014179" "30" "1713" "0" "1713" "0" "c.1713G>C" "r.(?)" "p.(Thr571=)" "" "0000302703" "00014179" "50" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Phe61Leu)" "3" "0000302704" "00014179" "50" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872Gln)" "" "0000302705" "00014179" "30" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Asp1011Asn)" "" "0000302706" "00014179" "50" "3638" "0" "3638" "0" "c.3638A>T" "r.(?)" "p.(Lys1213Met)" "" "0000302707" "00014179" "30" "3828" "0" "3828" "0" "c.3828C>T" "r.(?)" "p.(Leu1276=)" "" "0000302708" "00014179" "30" "5395" "-6" "5395" "-6" "c.5395-6C>T" "r.(=)" "p.(=)" "" "0000302709" "00014179" "30" "5449" "0" "5449" "0" "c.5449A>G" "r.(?)" "p.(Met1817Val)" "" "0000302710" "00014179" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Asp300=)" "8" "0000325916" "00014179" "50" "4489" "0" "4489" "0" "c.4489G>A" "r.(?)" "p.(Val1497Met)" "" "0000325917" "00014179" "50" "28" "-3" "28" "-3" "c.28-3C>A" "r.spl?" "p.?" "1i" "0000565009" "00014179" "50" "5264" "0" "5275" "0" "c.5264_5275del" "r.(?)" "p.(Glu1755_Glu1758del)" "" "0000565010" "00014179" "30" "4702" "-9" "4702" "-9" "c.4702-9C>T" "r.(=)" "p.(=)" "" "0000565013" "00014179" "30" "4145" "0" "4145" "0" "c.4145C>T" "r.(?)" "p.(Thr1382Met)" "" "0000565015" "00014179" "30" "3832" "0" "3832" "0" "c.3832G>A" "r.(?)" "p.(Gly1278Ser)" "" "0000565016" "00014179" "90" "3537" "2" "3537" "2" "c.3537+2T>G" "r.spl?" "p.?" "" "0000565017" "00014179" "30" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Arg829Cys)" "" "0000565018" "00014179" "30" "2343" "0" "2343" "0" "c.2343G>C" "r.(?)" "p.(Lys781Asn)" "" "0000565020" "00014179" "30" "1679" "0" "1679" "0" "c.1679T>G" "r.(?)" "p.(Leu560Arg)" "" "0000565021" "00014179" "50" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Val516Ile)" "" "0000565022" "00014179" "10" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Asn402=)" "10" "0000565023" "00014179" "30" "1057" "-4" "1057" "-4" "c.1057-4A>G" "r.spl?" "p.?" "9i" "0000565024" "00014179" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "9" "0000565025" "00014179" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309Gln)" "8" "0000565026" "00014179" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(His260=)" "7" "0000565027" "00014179" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "3" "0000565028" "00014179" "30" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "3" "0000617194" "00014179" "30" "2004" "-14" "2004" "-13" "c.2004-14_2004-13dup" "r.(=)" "p.(=)" "" "0000617196" "00014179" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000623864" "00014179" "30" "1057" "-4" "1057" "-4" "c.1057-4A>G" "r.spl?" "p.?" "" "0000623865" "00014179" "30" "207" "0" "207" "0" "c.207G>T" "r.(?)" "p.(Val69=)" "" "0000649831" "00014179" "10" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "0000649832" "00014179" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000658400" "00014179" "30" "3603" "10" "3603" "10" "c.3603+10T>C" "r.(=)" "p.(=)" "" "0000658401" "00014179" "30" "3561" "0" "3561" "0" "c.3561A>G" "r.(?)" "p.(Ile1187Met)" "" "0000658402" "00014179" "30" "2043" "0" "2043" "0" "c.2043C>T" "r.(?)" "p.(Cys681=)" "" "0000669448" "00014179" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000673611" "00014179" "70" "1306" "0" "1306" "0" "c.1306G>T" "r.(?)" "p.(Val436Phe)" "" "0000673612" "00014179" "70" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064*)" "" "0000673976" "00014179" "50" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "0000673977" "00014179" "50" "1201" "0" "1201" "0" "c.1201C>G" "r.(?)" "p.(Arg401Gly)" "" "0000681167" "00014179" "30" "5433" "0" "5433" "0" "c.5433A>C" "r.(?)" "p.(Leu1811=)" "" "0000681168" "00014179" "90" "5313" "1" "5313" "1" "c.5313+1G>A" "r.spl?" "p.?" "" "0000681169" "00014179" "50" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "" "0000682869" "00014179" "70" "2014" "0" "2014" "0" "c.2014A>T" "r.(?)" "p.(Lys672*)" "" "0000692611" "00014179" "50" "4481" "0" "4481" "0" "c.4481C>T" "r.(?)" "p.(Ser1494Leu)" "" "0000692612" "00014179" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Cys)" "" "0000692613" "00014179" "50" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Asp66Tyr)" "" "0000692614" "00014179" "30" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0000726913" "00014179" "50" "4813" "0" "4813" "0" "c.4813C>T" "r.(?)" "p.(Leu1605Phe)" "" "0000726914" "00014179" "50" "4271" "0" "4271" "0" "c.4271A>G" "r.(?)" "p.(Lys1424Arg)" "" "0000726915" "00014179" "50" "3175" "0" "3175" "0" "c.3175G>A" "r.(?)" "p.(Glu1059Lys)" "" "0000726916" "00014179" "30" "2003" "10" "2003" "10" "c.2003+10T>C" "r.(=)" "p.(=)" "" "0000726917" "00014179" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000726918" "00014179" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "" "0000808521" "00014179" "30" "2076" "0" "2076" "0" "c.2076T>C" "r.(?)" "p.(Ala692=)" "" "0000808522" "00014179" "30" "864" "0" "864" "0" "c.864A>G" "r.(?)" "p.(Thr288=)" "" "0000855321" "00014179" "30" "4440" "0" "4440" "0" "c.4440C>T" "r.(?)" "p.(Leu1480=)" "" "0000855322" "00014179" "30" "2578" "0" "2578" "0" "c.2578A>G" "r.(?)" "p.(Met860Val)" "" "0000855323" "00014179" "30" "2561" "0" "2561" "0" "c.2561C>A" "r.(?)" "p.(Thr854Asn)" "" "0000855324" "00014179" "10" "2203" "-7" "2203" "-7" "c.2203-7T>C" "r.(=)" "p.(=)" "" "0000855325" "00014179" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115*)" "" "0000865712" "00014179" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Cys)" "" "0000894593" "00014179" "30" "2343" "0" "2343" "0" "c.2343G>C" "r.(?)" "p.(Lys781Asn)" "" "0000915070" "00014179" "50" "5473" "0" "5473" "0" "c.5473A>T" "r.(?)" "p.(Asn1825Tyr)" "" "0000915071" "00014179" "10" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "" "0000915072" "00014179" "50" "2471" "0" "2471" "0" "c.2471G>A" "r.(?)" "p.(Arg824His)" "" "0000915073" "00014179" "50" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804His)" "" "0000915074" "00014179" "30" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Arg743His)" "" "0000915075" "00014179" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Gly236Arg)" "" "0000930967" "00014179" "30" "3828" "0" "3828" "0" "c.3828C>T" "r.(?)" "p.(Leu1276=)" "" "0000951147" "00014179" "30" "1793" "0" "1793" "0" "c.1793C>T" "r.(?)" "p.(Pro598Leu)" "" "0000951148" "00014179" "70" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Met392Thr)" "" "0000951149" "00014179" "70" "1064" "0" "1064" "0" "c.1064A>T" "r.(?)" "p.(Asp355Val)" "" "0000951150" "00014179" "30" "897" "0" "897" "0" "c.897G>T" "r.(?)" "p.(=)" "" "0000969431" "00014179" "10" "3163" "0" "3165" "0" "c.3163_3165dup" "r.(?)" "p.(Leu1055dup)" "" "0000983063" "00014179" "50" "4664" "0" "4664" "0" "c.4664G>A" "r.(?)" "p.(Arg1555His)" "" "0000983064" "00014179" "50" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Trp)" "" "0000983065" "00014179" "30" "2090" "10" "2090" "10" "c.2090+10G>A" "r.(=)" "p.(=)" "" "0000983067" "00014179" "50" "1406" "0" "1406" "0" "c.1406del" "r.(?)" "p.(His469Leufs*11)" "" "0000983068" "00014179" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Gly298Asp)" "" "0001004148" "00014179" "90" "4366" "0" "4366" "0" "c.4366C>T" "r.(?)" "p.(Gln1456*)" "" "0001015706" "00014179" "30" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" "" "0001042453" "00014179" "50" "2125" "0" "2125" "0" "c.2125G>T" "r.(?)" "p.(Val709Leu)" "" "0001042454" "00014179" "50" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Met372Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{variantid}}" "0000149324" "0000242647" "0000149325" "0000242648" "0000149326" "0000242649" "0000149327" "0000242650" "0000149328" "0000242651" "0000149329" "0000242652" "0000149330" "0000242653" "0000149331" "0000242654" "0000149332" "0000242655" "0000149333" "0000242656" "0000149334" "0000242657" "0000149335" "0000242658" "0000149336" "0000242659" "0000149337" "0000242660" "0000149338" "0000242661" "0000149339" "0000242662" "0000149340" "0000242663" "0000149341" "0000242664" "0000149342" "0000242665" "0000149343" "0000242666" "0000149344" "0000242667" "0000149345" "0000242668" "0000149346" "0000242669" "0000149347" "0000242670" "0000149348" "0000242671" "0000149349" "0000242672" "0000149349" "0000242673" "0000149350" "0000242674" "0000149350" "0000242675" "0000149351" "0000242676" "0000149351" "0000242677" "0000149352" "0000242678" "0000149352" "0000242679" "0000149353" "0000242680" "0000149353" "0000242681" "0000149354" "0000242682" "0000149354" "0000242683" "0000149355" "0000242684" "0000149355" "0000242685" "0000149356" "0000242686" "0000149356" "0000242687" "0000149357" "0000242688" "0000149357" "0000242689" "0000149358" "0000242690" "0000149358" "0000242691" "0000149359" "0000242692" "0000149360" "0000242693" "0000149360" "0000242694" "0000149361" "0000242695" "0000149361" "0000242696" "0000149362" "0000242697" "0000149362" "0000242698" "0000149363" "0000242699" "0000149363" "0000242700" "0000149364" "0000242701" "0000149364" "0000242702" "0000149365" "0000242703" "0000149366" "0000242704" "0000149366" "0000242705" "0000149367" "0000242706" "0000149368" "0000242707" "0000149368" "0000242708" "0000149369" "0000242709" "0000149369" "0000242710" "0000149370" "0000242711" "0000149371" "0000242712" "0000149372" "0000242713" "0000149372" "0000242714" "0000149373" "0000242715" "0000149374" "0000242716" "0000149374" "0000242717" "0000149374" "0000242718" "0000293142" "0000649831" "0000293143" "0000649832" "0000305760" "0000669448" "0000307068" "0000673611" "0000307068" "0000673612" "0000307351" "0000673976" "0000307351" "0000673977" "0000308461" "0000682869"