### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MATN3) # 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}}" "MATN3" "matrilin 3" "2" "p24-p23" "unknown" "NG_008087.1" "UD_132118359372" "" "https://www.LOVD.nl/MATN3" "" "1" "6909" "4148" "602109" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MATN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-03-06 20:28:04" "00000" "2026-01-20 18:57:21" ## 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}}" "00011848" "MATN3" "matrilin 3" "001" "NM_002381.4" "" "NP_002372.1" "" "" "" "-63" "2520" "1461" "20212455" "20191813" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01359" "OS2" "sosteoarthritis, susceptibility 2 (OS-2)" "AD" "140600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02626" "EDM5" "dysplasia, epiphyseal, multiple, type 5 (EDM-5)" "AD" "607078" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02785" "-" "Spondyloepimetaphyseal dysplasia Matrilin-3 related" "AR" "608728" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05234" "CM1" "malformation, Chiari, type I (CM-1)" "" "118420" "" "" "" "00006" "2017-03-06 20:17:57" "00006" "2021-12-10 21:51:32" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MATN3" "01359" "MATN3" "02626" "MATN3" "02785" ## Individuals ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00100621" "" "" "" "3" "" "01926" "" "" "F" "no" "Italy" "" "0" "" "Surgery of cranial posterior fossa" "White" "@VED" "00230517" "" "" "" "43" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230518" "" "" "" "1" "" "00000" "" "" "" "" "Korea" "" "0" "" "" "" "" "00230519" "" "" "" "1" "" "00000" "" "" "" "" "Korea" "" "0" "" "" "" "" "00230520" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230521" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230522" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230523" "" "" "" "1" "" "00000" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00230524" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230525" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230526" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230527" "" "" "" "1" "" "00000" "" "3-generation family" "" "" "" "" "0" "" "" "" "" "00230528" "" "" "" "2" "" "00000" "" "patient and affected father" "" "" "" "" "0" "" "" "" "" "00230529" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230530" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230531" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230532" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230533" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230534" "" "" "" "20" "" "00000" "" "20 affecteds" "" "" "Korea" "" "0" "" "" "" "" "00230535" "" "" "" "1" "" "02972" "" "" "" "" "Korea" "" "0" "" "" "" "" "00230536" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230537" "" "" "" "4" "" "00000" "" "co-segregation in 4 affected family members" "" "" "" "" "0" "" "" "" "" "00230538" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230539" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230540" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230541" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230542" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230543" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230544" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230545" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230546" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230547" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230548" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230549" "" "" "" "1" "" "00000" "" "" "" "" "Korea" "" "0" "" "" "" "" "00230550" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230551" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230552" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230553" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230554" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230555" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230556" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230557" "" "" "" "4" "" "00000" "" "4 affecteds" "" "" "Korea" "" "0" "" "" "" "" "00230558" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230559" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230560" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230561" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230562" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230563" "" "" "" "1" "" "00000" "" "co-segregation in large family" "" "" "" "" "0" "" "" "" "" "00230564" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230565" "" "" "" "2" "" "02972" "" "2 affecteds" "" "" "Korea" "" "0" "" "" "" "" "00230566" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00230567" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230568" "" "" "" "1" "" "00000" "" "3-generation family" "" "" "" "" "0" "" "" "" "" "00230569" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230570" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00230571" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "Arab, muslim" "" "00267050" "" "" "" "6" "" "03463" "" "" "M" "yes" "Pakistan" "15y" "0" "" "No" "Asian" "PK-ST-KP-08 V:18" "00292535" "" "" "" "211" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292536" "" "" "" "200" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304773" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397615" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "" "" "China" "" "0" "" "" "" "Tab4-Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 61 "{{individualid}}" "{{diseaseid}}" "00100621" "05234" "00230517" "01359" "00230518" "02626" "00230519" "02626" "00230520" "02626" "00230521" "02626" "00230522" "02626" "00230523" "02626" "00230524" "02626" "00230525" "02626" "00230526" "02626" "00230527" "02626" "00230528" "02626" "00230529" "02626" "00230530" "02626" "00230531" "02626" "00230532" "02626" "00230533" "02626" "00230534" "02626" "00230535" "02626" "00230536" "02626" "00230537" "02626" "00230538" "02626" "00230539" "02626" "00230540" "02626" "00230541" "02626" "00230542" "05346" "00230543" "02626" "00230544" "02626" "00230545" "02626" "00230546" "02626" "00230547" "02626" "00230548" "02626" "00230549" "02626" "00230550" "02626" "00230551" "02626" "00230552" "02626" "00230553" "02626" "00230554" "02626" "00230555" "02626" "00230556" "02626" "00230557" "02626" "00230558" "02626" "00230559" "02626" "00230560" "02626" "00230561" "02626" "00230562" "02626" "00230563" "02626" "00230564" "02626" "00230565" "02626" "00230566" "02626" "00230567" "02626" "00230568" "02626" "00230569" "00000" "00230570" "01359" "00230571" "02785" "00267050" "05346" "00292535" "00198" "00292536" "00198" "00304773" "00198" "00397615" "06887" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01359, 02626, 02785, 05234, 05346, 06887 ## Count = 19 "{{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}}" "0000078872" "05234" "00100621" "01926" "Familial, autosomal dominant" "08y" "" "08y" "" "scaphocephaly, Chiari malformation type I" "" "" "" "" "" "" "" "" "0000173043" "02626" "00230568" "00000" "-" "" "severely affected" "" "" "" "" "" "" "" "" "" "" "" "0000173044" "02785" "00230571" "00000" "Familial, autosomal recessive" "" "large consanguineous family" "" "" "" "" "" "" "" "" "" "" "" "0000173045" "02626" "00230523" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173046" "02626" "00230527" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173047" "02626" "00230528" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173048" "02626" "00230529" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173049" "02626" "00230537" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173050" "02626" "00230546" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173051" "02626" "00230549" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173052" "02626" "00230554" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173053" "02626" "00230535" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173054" "02626" "00230548" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173055" "02626" "00230558" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173056" "02626" "00230561" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173057" "02626" "00230566" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173058" "01359" "00230570" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204979" "05346" "00267050" "03463" "Familial, autosomal recessive" "15y" "Short stature, bowed legs and waddling gait" "00y00m01d" "" "00y00m01d" "" "" "" "" "" "SEMD" "Radiographs" "" "0000290739" "06887" "00397615" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "EDM5" "multiple epiphyseal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101037" "00100621" "1" "01926" "01926" "2017-03-06 16:21:59" "00006" "2017-03-07 17:09:54" "SEQ-NG-I" "DNA" "blood" "" "0000231610" "00230517" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231611" "00230518" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231612" "00230519" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231613" "00230520" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231614" "00230521" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231615" "00230522" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231616" "00230523" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231617" "00230524" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231618" "00230525" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231619" "00230526" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231620" "00230527" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231621" "00230528" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231622" "00230529" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231623" "00230530" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231624" "00230531" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231625" "00230532" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231626" "00230533" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231627" "00230534" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231628" "00230535" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231629" "00230536" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231630" "00230537" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231631" "00230538" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231632" "00230539" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231633" "00230540" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231634" "00230541" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231635" "00230542" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231636" "00230543" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231637" "00230544" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231638" "00230545" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231639" "00230546" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231640" "00230547" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231641" "00230548" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231642" "00230549" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231643" "00230550" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231644" "00230551" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231645" "00230552" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231646" "00230553" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231647" "00230554" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231648" "00230555" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231649" "00230556" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231650" "00230557" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231651" "00230558" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231652" "00230559" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231653" "00230560" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231654" "00230561" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231655" "00230562" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231656" "00230563" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231657" "00230564" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231658" "00230565" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231659" "00230566" "1" "02972" "02972" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231660" "00230567" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231661" "00230568" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231662" "00230569" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231663" "00230570" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000231664" "00230571" "1" "00000" "00006" "2011-10-21 17:23:32" "" "" "SEQ" "DNA" "" "" "0000268180" "00267050" "1" "03463" "03463" "2019-11-01 09:14:19" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000293703" "00292535" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293704" "00292536" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305902" "00304773" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000398853" "00397615" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{geneid}}" "0000101037" "DKK1" "0000101037" "FBN3" "0000101037" "ITGA10" "0000101037" "MATN3" "0000231610" "MATN3" "0000231611" "MATN3" "0000231612" "MATN3" "0000231613" "MATN3" "0000231614" "MATN3" "0000231615" "MATN3" "0000231616" "MATN3" "0000231617" "MATN3" "0000231618" "MATN3" "0000231619" "MATN3" "0000231620" "MATN3" "0000231621" "MATN3" "0000231622" "MATN3" "0000231623" "MATN3" "0000231624" "MATN3" "0000231625" "MATN3" "0000231626" "MATN3" "0000231627" "MATN3" "0000231628" "MATN3" "0000231629" "MATN3" "0000231630" "MATN3" "0000231631" "MATN3" "0000231632" "MATN3" "0000231633" "MATN3" "0000231634" "MATN3" "0000231635" "MATN3" "0000231636" "MATN3" "0000231637" "MATN3" "0000231638" "MATN3" "0000231639" "MATN3" "0000231640" "MATN3" "0000231641" "MATN3" "0000231642" "MATN3" "0000231643" "MATN3" "0000231644" "MATN3" "0000231645" "MATN3" "0000231646" "MATN3" "0000231647" "MATN3" "0000231648" "MATN3" "0000231649" "MATN3" "0000231650" "MATN3" "0000231651" "MATN3" "0000231652" "MATN3" "0000231653" "MATN3" "0000231654" "MATN3" "0000231655" "MATN3" "0000231656" "MATN3" "0000231657" "MATN3" "0000231658" "MATN3" "0000231659" "MATN3" "0000231660" "MATN3" "0000231661" "MATN3" "0000231662" "MATN3" "0000231663" "MATN3" "0000231664" "MATN3" "0000268180" "MATN3" ## 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 = 102 "{{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}}" "0000163484" "11" "10" "2" "20205769" "20205769" "subst" "0.000239619" "01926" "MATN3_000031" "g.20205769C>A" "" "" "" "g.11687G>T" "" "Germline" "yes" "rs200762092" "0" "" "" "g.20006008C>A" "" "benign" "" "0000319843" "0" "10" "2" "20189015" "20189015" "subst" "0.107749" "01943" "WDR35_000026" "g.20189015T>C" "" "" "" "WDR35(NM_001006657.1):c.53A>G (p.Q18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19989254T>C" "" "benign" "" "0000326883" "0" "30" "2" "20202935" "20202935" "subst" "4.06138E-6" "01804" "MATN3_000032" "g.20202935C>G" "" "" "" "MATN3(NM_002381.4):c.903G>C (p.(Lys301Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20003174C>G" "" "likely benign" "" "0000326884" "0" "50" "2" "20205769" "20205769" "subst" "0.000239619" "01804" "MATN3_000031" "g.20205769C>A" "" "" "" "MATN3(NM_002381.4):c.526G>T (p.V176L, p.(Val176Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20006008C>A" "" "VUS" "" "0000344626" "0" "10" "2" "20189015" "20189015" "subst" "0.107749" "02327" "WDR35_000026" "g.20189015T>C" "" "" "" "WDR35(NM_001006657.1):c.53A>G (p.Q18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19989254T>C" "" "benign" "" "0000473676" "1" "95" "2" "20205936" "20205936" "subst" "0" "00000" "MATN3_000019" "g.20205936G>A" "" "{PMID:Jackson 2004:14729835}" "" "" "absent in controls; functional biochemical analysis" "Germline" "" "" "0" "" "" "g.20006175G>A" "" "pathogenic" "" "0000473677" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473678" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473679" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473680" "1" "95" "2" "20205895" "20205895" "subst" "0" "00000" "MATN3_000014" "g.20205895C>T" "" "{PMID:Jackson 2004:14729835}" "" "" "absent in controls; functional biochemical analysis" "Germline" "" "" "0" "" "" "g.20006134C>T" "" "pathogenic" "" "0000473681" "1" "95" "2" "20205720" "20205720" "subst" "0" "00000" "MATN3_000015" "g.20205720A>T" "" "{PMID:Jackson 2004:14729835}" "" "" "absent in controls; functional biochemical analysis" "Germline" "" "" "0" "" "" "g.20005959A>T" "" "pathogenic" "" "0000473682" "1" "95" "2" "20205714" "20205714" "subst" "0" "02972" "MATN3_000023" "g.20205714A>T" "" "" "" "581A>T" "" "Germline" "" "" "0" "" "" "g.20005953A>T" "" "pathogenic" "" "0000473683" "1" "95" "2" "20205669" "20205669" "subst" "0" "00000" "MATN3_000011" "g.20205669C>G" "" "{PMID:Jackson 2011:21922596}" "" "" "" "Germline" "" "" "0" "" "" "g.20005908C>G" "" "pathogenic" "" "0000473684" "1" "95" "2" "20205913" "20205913" "subst" "0" "00000" "MATN3_000008" "g.20205913C>G" "" "{PMID:Mostert 2003:12884427}, {OMIM602109:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.20006152C>G" "" "pathogenic" "" "0000473685" "1" "95" "2" "20205714" "20205714" "subst" "0" "00000" "MATN3_000023" "g.20205714A>T" "" "{PMID:Chapman 2001:11479597}, {OMIM602109:0001}" "" "598A>T / 581A>T" "" "Germline" "" "" "0" "" "" "g.20005953A>T" "" "pathogenic" "" "0000473686" "21" "95" "2" "20205639" "20205639" "subst" "0" "00000" "MATN3_000002" "g.20205639G>T" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0004}" "" "" "absent in controls; functional biochemical analysis" "Germline" "" "" "0" "" "" "g.20005878G>T" "" "pathogenic" "" "0000473687" "1" "95" "2" "20205639" "20205639" "subst" "0" "00000" "MATN3_000002" "g.20205639G>T" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0004}" "" "" "absent in controls; functional biochemical analysis" "Germline" "" "" "0" "" "" "g.20005878G>T" "" "pathogenic" "" "0000473688" "10" "15" "2" "20205541" "20205541" "subst" "0.022697" "00000" "MATN3_000003" "g.20205541C>T" "" "{PMID:Jackson 2004:14729835}, {OMIM602109:0004}" "" "" "not disease causing" "Germline" "" "" "0" "" "" "g.20005780C>T" "" "benign" "" "0000473689" "1" "95" "2" "20202928" "20202928" "subst" "0" "00000" "MATN3_000004" "g.20202928A>T" "" "{PMID:Borochowitz 2004:15121775}, {OMIM602109:0005}" "" "" "absent in controls" "Germline" "" "" "0" "" "" "g.20003167A>T" "" "pathogenic" "" "0000473690" "2" "95" "2" "20202928" "20202928" "subst" "0" "00000" "MATN3_000004" "g.20202928A>T" "" "{PMID:Borochowitz 2004:15121775}, {OMIM602109:0005}" "" "" "absent in controls" "Germline" "" "" "0" "" "" "g.20003167A>T" "" "pathogenic" "" "0000473691" "1" "95" "2" "20212184" "20212184" "subst" "0" "02972" "MATN3_000012" "g.20212184C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20012423C>T" "" "pathogenic" "" "0000473692" "1" "95" "2" "20212184" "20212184" "subst" "0" "00000" "MATN3_000012" "g.20212184C>T" "" "{PMID:Maeda 2005:15948199}, {OMIM602109:0006}" "" "" "absent in controls; functional biochemical analysis" "Unknown" "" "" "0" "" "" "g.20012423C>T" "" "pathogenic" "" "0000473693" "1" "95" "2" "20205981" "20205981" "subst" "0" "02972" "MATN3_000018" "g.20205981A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20006220A>G" "" "pathogenic" "" "0000473694" "1" "95" "2" "20205981" "20205981" "subst" "0" "00000" "MATN3_000018" "g.20205981A>G" "" "{PMID:Mabuchi 2004:15459972}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006220A>G" "" "pathogenic" "" "0000473695" "1" "95" "2" "20205936" "20205936" "subst" "0" "02972" "MATN3_000019" "g.20205936G>A" "" "" "" "" "possible common mutation in Korean and Japanese populations" "Unknown" "" "" "0" "" "" "g.20006175G>A" "" "pathogenic" "" "0000473696" "1" "95" "2" "20205936" "20205936" "subst" "0" "00000" "MATN3_000019" "g.20205936G>A" "" "{PMID:Mabuchi 2004:15459972}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006175G>A" "" "pathogenic" "" "0000473697" "1" "95" "2" "20205936" "20205936" "subst" "0" "00000" "MATN3_000019" "g.20205936G>A" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006175G>A" "" "pathogenic" "" "0000473698" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Chapman 2001:11479597}, {OMIM602109:0002}" "" "378C>T" "absent in controls" "Unknown" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473699" "1" "95" "2" "20205934" "20205934" "subst" "0" "02972" "MATN3_000010" "g.20205934G>A" "" "" "" "" "common mutation in several ethnic groups, may be founder variant in Korea" "Unknown" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473700" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Mabuchi 2004:15459972}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473701" "1" "95" "2" "20205934" "20205934" "subst" "0" "00000" "MATN3_000010" "g.20205934G>A" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006173G>A" "" "pathogenic" "" "0000473702" "1" "95" "2" "20205927" "20205927" "subst" "0" "02972" "MATN3_000007" "g.20205927G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20006166G>T" "" "pathogenic" "" "0000473703" "1" "95" "2" "20205927" "20205927" "subst" "0" "00000" "MATN3_000007" "g.20205927G>T" "" "{PMID:Mabuchi 2004:15459972}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006166G>T" "" "pathogenic" "" "0000473704" "1" "95" "2" "20205913" "20205913" "subst" "0" "02972" "MATN3_000008" "g.20205913C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20006152C>G" "" "pathogenic" "" "0000473705" "1" "95" "2" "20205895" "20205895" "subst" "0" "02972" "MATN3_000014" "g.20205895C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20006134C>T" "" "pathogenic" "" "0000473706" "1" "95" "2" "20205846" "20205846" "del" "8.12203E-6" "00000" "MATN3_000026" "g.20205846del" "" "{PMID:Briggs 2002:11968079}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006085del" "" "pathogenic" "" "0000473707" "1" "95" "2" "20205858" "20205858" "subst" "0" "00000" "MATN3_000005" "g.20205858A>C" "" "{PMID:Kim 2011:21965141}" "" "473T>G" "" "Unknown" "" "" "0" "" "" "g.20006097A>C" "" "pathogenic" "" "0000473708" "1" "95" "2" "20205818" "20205818" "subst" "0" "00000" "MATN3_000006" "g.20205818G>A" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006057G>A" "" "pathogenic" "" "0000473709" "1" "95" "2" "20205769" "20205786" "del" "0" "02972" "MATN3_000013" "g.20205769_20205786del" "" "" "" "" "in-frame deletion of functional residues" "Unknown" "" "" "0" "" "" "g.20006008_20006025del" "" "pathogenic" "" "0000473710" "1" "95" "2" "20205769" "20205786" "del" "0" "00000" "MATN3_000013" "g.20205769_20205786del" "" "{PMID:Jackson 2011:21922596}" "" "" "" "Unknown" "" "" "0" "" "" "g.20006008_20006025del" "" "pathogenic" "" "0000473711" "1" "95" "2" "20205777" "20205777" "subst" "0" "02972" "MATN3_000009" "g.20205777G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20006016G>T" "" "pathogenic" "" "0000473712" "1" "95" "2" "20205777" "20205777" "subst" "0" "00000" "MATN3_000009" "g.20205777G>T" "" "{PMID:Fresquet 2008:18205203}" "" "" "absent in controls; functional biochemical analysis" "Unknown" "" "" "0" "" "" "g.20006016G>T" "" "pathogenic" "" "0000473713" "1" "95" "2" "20205720" "20205720" "subst" "0" "02972" "MATN3_000015" "g.20205720A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20005959A>T" "" "pathogenic" "" "0000473714" "1" "95" "2" "20205720" "20205720" "subst" "0" "00000" "MATN3_000016" "g.20205720A>G" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20005959A>G" "" "pathogenic" "" "0000473715" "1" "95" "2" "20205711" "20205711" "subst" "0" "02972" "MATN3_000020" "g.20205711G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20005950G>T" "" "pathogenic" "" "0000473716" "1" "95" "2" "20205711" "20205711" "subst" "0" "00000" "MATN3_000020" "g.20205711G>T" "" "{PMID:Cotterill 2005:16287128}" "" "" "absent in controls" "Unknown" "" "" "0" "" "" "g.20005950G>T" "" "pathogenic" "" "0000473717" "1" "95" "2" "20205669" "20205669" "subst" "0" "02972" "MATN3_000011" "g.20205669C>G" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20005908C>G" "" "pathogenic" "" "0000473718" "1" "95" "2" "20205669" "20205669" "subst" "0" "02972" "MATN3_000011" "g.20205669C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20005908C>G" "" "pathogenic" "" "0000473719" "1" "95" "2" "20205643" "20205643" "subst" "0" "02972" "MATN3_000021" "g.20205643A>T" "" "" "" "" "co-segregation in family studies" "Unknown" "" "" "0" "" "" "g.20005882A>T" "" "pathogenic" "" "0000473720" "1" "95" "2" "20205643" "20205643" "subst" "0" "00000" "MATN3_000021" "g.20205643A>T" "" "{PMID:Cotterill 2005:16287128}" "" "" "absent in controls" "Unknown" "" "" "0" "" "" "g.20005882A>T" "" "pathogenic" "" "0000473721" "1" "75" "2" "20205642" "20205642" "subst" "0" "02972" "MATN3_000022" "g.20205642T>C" "" "" "" "" "pathogenicity not determined, family studies inconclusive" "Unknown" "" "" "0" "" "" "g.20005881T>C" "" "likely pathogenic" "" "0000473722" "0" "55" "2" "20205639" "20205639" "subst" "0" "00000" "MATN3_000002" "g.20205639G>T" "" "" "" "" "" "Unknown" "" "rs28939677" "0" "" "" "g.20005878G>T" "" "VUS" "" "0000473723" "1" "95" "2" "20205639" "20205639" "subst" "0" "02972" "MATN3_000002" "g.20205639G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20005878G>T" "" "pathogenic" "" "0000473724" "1" "95" "2" "20205636" "20205636" "subst" "3.81382E-5" "02972" "MATN3_000024" "g.20205636A>G" "" "{PMID:Kim 2011:21965141}" "" "" "" "Unknown" "" "" "0" "" "" "g.20005875A>G" "" "pathogenic" "" "0000473725" "1" "95" "2" "20205602" "20205602" "subst" "2.51075E-5" "02972" "MATN3_000017" "g.20205602C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20005841C>G" "" "pathogenic" "" "0000473726" "1" "95" "2" "20205602" "20205602" "subst" "2.51075E-5" "00000" "MATN3_000017" "g.20205602C>G" "" "{PMID:Fresquet 2008:18205203}" "" "" "absent in controls" "Unknown" "" "" "0" "" "" "g.20005841C>G" "" "pathogenic" "" "0000473727" "1" "55" "2" "20205562" "20205562" "subst" "3.7456E-5" "02972" "MATN3_000025" "g.20205562C>T" "" "" "" "" "not thought to be disease causing, might act as a modifier of phenotypic severity" "Unknown" "" "" "0" "" "" "g.20005801C>T" "" "VUS" "" "0000473728" "0" "55" "2" "20205541" "20205541" "subst" "0.022697" "00000" "MATN3_000003" "g.20205541C>T" "" "" "" "" "" "Unknown" "" "rs52826764" "0" "" "" "g.20005780C>T" "" "VUS" "" "0000473729" "1" "15" "2" "20205541" "20205541" "subst" "0.022697" "02972" "MATN3_000003" "g.20205541C>T" "" "" "" "" "not disease causing" "Unknown" "" "" "0" "" "" "g.20005780C>T" "" "benign" "" "0000473730" "1" "15" "2" "20205541" "20205541" "subst" "0.022697" "00000" "MATN3_000003" "g.20205541C>T" "" "{PMID:Cotterill 2005:16287128}" "" "" "not disease causing" "Unknown" "" "" "0" "" "" "g.20005780C>T" "" "benign" "" "0000473731" "1" "95" "2" "20202930" "20202930" "subst" "0.0150452" "00000" "MATN3_000001" "g.20202930G>A" "2/2162 cases" "{PMID:Stefansson 2003:12736871}, {OMIM602109:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.20003169G>A" "" "pathogenic" "" "0000473732" "2" "95" "2" "20202930" "20202930" "subst" "0.0150452" "00000" "MATN3_000001" "g.20202930G>A" "2/2162 cases" "{PMID:Stefansson 2003:12736871}, {OMIM602109:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.20003169G>A" "" "pathogenic" "" "0000473733" "1" "95" "2" "20202930" "20202930" "subst" "0.0150452" "00000" "MATN3_000001" "g.20202930G>A" "43/2162 cases" "{PMID:Stefansson 2003:12736871}, {OMIM602109:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.20003169G>A" "" "pathogenic" "" "0000473734" "0" "55" "2" "20202930" "20202930" "subst" "0.0150452" "00000" "MATN3_000001" "g.20202930G>A" "" "" "" "" "" "Unknown" "" "rs28939676" "0" "" "" "g.20003169G>A" "" "VUS" "" "0000473735" "1" "95" "2" "20202928" "20202928" "subst" "0" "02972" "MATN3_000004" "g.20202928A>T" "" "" "" "973T>A" "" "Unknown" "" "" "0" "" "" "g.20003167A>T" "" "pathogenic" "" "0000513880" "0" "90" "2" "20189045" "20189045" "subst" "8.12209E-6" "02327" "MATN3_000033" "g.20189045T>C" "" "" "" "WDR35(NM_001006657.1):c.25-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19989284T>C" "" "pathogenic" "" "0000513883" "0" "50" "2" "20196928" "20196928" "subst" "0" "02327" "MATN3_000036" "g.20196928A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19997167A>T" "" "VUS" "" "0000513884" "0" "30" "2" "20197018" "20197018" "subst" "0.00091013" "01804" "MATN3_000037" "g.20197018G>A" "" "" "" "MATN3(NM_002381.4):c.1171C>T (p.(Arg391Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19997257G>A" "" "likely benign" "" "0000513885" "0" "30" "2" "20202930" "20202930" "subst" "0.0150452" "01804" "MATN3_000001" "g.20202930G>A" "" "" "" "MATN3(NM_002381.4):c.908C>T (p.(Thr303Met)), MATN3(NM_002381.5):c.908C>T (p.T303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20003169G>A" "" "likely benign" "" "0000513888" "0" "30" "2" "20205541" "20205541" "subst" "0.022697" "01804" "MATN3_000003" "g.20205541C>T" "" "" "" "MATN3(NM_002381.4):c.754G>A (p.(Glu252Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20005780C>T" "" "likely benign" "" "0000513889" "0" "50" "2" "20205557" "20205557" "subst" "0" "01804" "MATN3_000038" "g.20205557C>A" "" "" "" "MATN3(NM_002381.4):c.738G>T (p.(Glu246Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20005796C>A" "" "VUS" "" "0000513890" "0" "70" "2" "20205951" "20205951" "subst" "0" "02327" "MATN3_000039" "g.20205951A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20006190A>T" "" "likely pathogenic" "" "0000513899" "0" "30" "2" "20212206" "20212206" "subst" "0" "01804" "MATN3_000041" "g.20212206A>C" "" "" "" "MATN3(NM_002381.4):c.187T>G (p.(Ser63Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20012445A>C" "" "likely benign" "" "0000513900" "0" "30" "2" "20212331" "20212331" "subst" "0" "01804" "MATN3_000042" "g.20212331A>C" "" "" "" "MATN3(NM_002381.4):c.62T>G (p.(Leu21Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20012570A>C" "" "likely benign" "" "0000600857" "3" "90" "2" "20205753" "20205753" "subst" "1.21955E-5" "03463" "MATN3_000043" "g.20205753C>T" "0.001" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.20005992C>T" "" "pathogenic (recessive)" "" "0000607383" "0" "90" "2" "20205934" "20205934" "subst" "0" "02327" "MATN3_000010" "g.20205934G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20006173G>A" "" "pathogenic" "" "0000650392" "1" "30" "2" "20202930" "20202930" "subst" "0.0150452" "03575" "MATN3_000001" "g.20202930G>A" "211/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "211 heterozygous, no homozygous; {DB:CLININrs77245812}" "Germline" "" "rs77245812" "0" "" "" "g.20003169G>A" "" "likely benign" "" "0000650393" "1" "30" "2" "20205541" "20205541" "subst" "0.022697" "03575" "MATN3_000003" "g.20205541C>T" "200/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "200 heterozygous; {DB:CLININrs52826764}" "Germline" "" "rs52826764" "0" "" "" "g.20005780C>T" "" "likely benign" "" "0000669590" "3" "30" "2" "20205541" "20205541" "subst" "0.022697" "03575" "MATN3_000003" "g.20205541C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs52826764}" "Germline" "" "rs52826764" "0" "" "" "g.20005780C>T" "" "likely benign" "" "0000676438" "0" "30" "2" "20205769" "20205769" "subst" "0.000239619" "01943" "MATN3_000031" "g.20205769C>A" "" "" "" "MATN3(NM_002381.4):c.526G>T (p.V176L, p.(Val176Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688598" "0" "50" "2" "20205504" "20205504" "subst" "8.69112E-6" "02325" "MATN3_000044" "g.20205504C>A" "" "" "" "MATN3(NM_002381.5):c.790+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688599" "0" "50" "2" "20205908" "20205908" "subst" "1.21845E-5" "02325" "MATN3_000045" "g.20205908G>T" "" "" "" "MATN3(NM_002381.5):c.387C>A (p.S129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718374" "0" "30" "2" "20205965" "20205965" "subst" "0.000460792" "01943" "MATN3_000046" "g.20205965G>A" "" "" "" "MATN3(NM_002381.4):c.330C>T (p.I110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800267" "0" "50" "2" "20205631" "20205631" "subst" "2.55611E-5" "01804" "MATN3_000047" "g.20205631C>T" "" "" "" "MATN3(NM_002381.4):c.664G>A (p.(Val222Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831120" "0" "70" "2" "20205933" "20205933" "subst" "8.12777E-6" "00006" "MATN3_000048" "g.20205933C>T" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.20006172C>T" "" "likely pathogenic" "" "0000858240" "0" "70" "2" "20205936" "20205936" "subst" "0" "01804" "MATN3_000019" "g.20205936G>A" "" "" "" "MATN3(NM_002381.4):c.359C>T (p.(Thr120Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884679" "0" "90" "2" "20189045" "20189045" "subst" "8.12209E-6" "01804" "MATN3_000033" "g.20189045T>C" "" "" "" "WDR35(NM_001006657.1):c.25-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884680" "0" "30" "2" "20202930" "20202930" "subst" "0.0150452" "02325" "MATN3_000001" "g.20202930G>A" "" "" "" "MATN3(NM_002381.4):c.908C>T (p.(Thr303Met)), MATN3(NM_002381.5):c.908C>T (p.T303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884681" "0" "30" "2" "20205602" "20205602" "subst" "2.51075E-5" "01804" "MATN3_000017" "g.20205602C>G" "" "" "" "MATN3(NM_002381.4):c.693G>C (p.(Lys231Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911506" "0" "30" "2" "20192876" "20192876" "subst" "2.85745E-5" "01804" "MATN3_000049" "g.20192876C>T" "" "" "" "MATN3(NM_002381.4):c.1457G>A (p.(Arg486His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947678" "0" "50" "2" "20203006" "20203006" "subst" "0.000146282" "01804" "MATN3_000050" "g.20203006C>T" "" "" "" "MATN3(NM_002381.4):c.832G>A (p.(Val278Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992366" "0" "30" "2" "20196961" "20196961" "subst" "0" "01804" "MATN3_000051" "g.20196961C>A" "" "" "" "MATN3(NM_002381.4):c.1228G>T (p.(Ala410Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992367" "0" "50" "2" "20200279" "20200279" "subst" "0" "01804" "MATN3_000052" "g.20200279A>T" "" "" "" "MATN3(NM_002381.4):c.1091T>A (p.(Val364Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992368" "0" "50" "2" "20202976" "20202976" "subst" "2.03067E-5" "01804" "MATN3_000053" "g.20202976G>A" "" "" "" "MATN3(NM_002381.4):c.862C>T (p.(His288Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992369" "0" "30" "2" "20205792" "20205792" "subst" "0" "01804" "MATN3_000054" "g.20205792G>T" "" "" "" "MATN3(NM_002381.4):c.503C>A (p.(Thr168Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024464" "0" "50" "2" "20205933" "20205933" "subst" "8.12777E-6" "02327" "MATN3_000048" "g.20205933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032894" "0" "50" "2" "20205624" "20205624" "subst" "0.000239051" "01804" "MATN3_000055" "g.20205624C>T" "" "" "" "MATN3(NM_002381.5):c.671G>A (p.(Arg224Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050535" "0" "50" "2" "20189006" "20189006" "subst" "0" "01804" "MATN3_000056" "g.20189006G>T" "" "" "" "WDR35(NM_020779.4):c.62C>A (p.(Ser21Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050536" "0" "50" "2" "20194084" "20194084" "dup" "0" "01804" "MATN3_000057" "g.20194084dup" "" "" "" "MATN3(NM_002381.5):c.1381dup (p.(Tyr461Leufs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050537" "0" "50" "2" "20205777" "20205777" "subst" "0" "01804" "MATN3_000058" "g.20205777G>C" "" "" "" "MATN3(NM_002381.5):c.518C>G (p.(Ala173Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063352" "0" "50" "2" "20200210" "20200210" "subst" "0" "01804" "MATN3_000059" "g.20200210G>T" "" "" "" "MATN3(NM_002381.5):c.1160C>A (p.(Thr387Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063353" "0" "50" "2" "20212398" "20212415" "dup" "0" "01804" "MATN3_000060" "g.20212398_20212415dup" "" "" "" "MATN3(NM_002381.5):c.-17_1dup (p.(Met1?))" "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 MATN3 ## Count = 102 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000163484" "00011848" "10" "526" "0" "526" "0" "c.526G>T" "r.(?)" "p.(Val176Leu)" "2" "" "0000319843" "00011848" "10" "5318" "0" "5318" "0" "c.*3857A>G" "r.(=)" "p.(=)" "" "" "0000326883" "00011848" "30" "903" "0" "903" "0" "c.903G>C" "r.(?)" "p.(Lys301Asn)" "" "" "0000326884" "00011848" "50" "526" "0" "526" "0" "c.526G>T" "r.(?)" "p.(Val176Leu)" "" "" "0000344626" "00011848" "10" "5318" "0" "5318" "0" "c.*3857A>G" "r.(=)" "p.(=)" "" "" "0000473676" "00011848" "95" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "2" "" "0000473677" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473678" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473679" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473680" "00011848" "95" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "2" "" "0000473681" "00011848" "95" "575" "0" "575" "0" "c.575T>A" "r.(?)" "p.(Ile192Asn)" "2" "" "0000473682" "00011848" "95" "581" "0" "581" "0" "c.581T>A" "r.(?)" "p.(Val194Asp)" "2" "A-domain, bD" "0000473683" "00011848" "95" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "2" "" "0000473684" "00011848" "95" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Ala128Pro)" "2" "" "0000473685" "00011848" "95" "581" "0" "581" "0" "c.581T>A" "r.(?)" "p.(Val194Asp)" "2" "" "0000473686" "00011848" "95" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "2" "" "0000473687" "00011848" "95" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "2" "" "0000473688" "00011848" "15" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "2" "" "0000473689" "00011848" "95" "910" "0" "910" "0" "c.910T>A" "r.(?)" "p.(Cys304Ser)" "3" "" "0000473690" "00011848" "95" "910" "0" "910" "0" "c.910T>A" "r.(?)" "p.(Cys304Ser)" "3" "" "0000473691" "00011848" "95" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "1" "Linker" "0000473692" "00011848" "95" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "1" "" "0000473693" "00011848" "95" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Phe105Ser)" "2" "A-domain, a1" "0000473694" "00011848" "95" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Phe105Ser)" "2" "" "0000473695" "00011848" "95" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "2" "A-domain, bB" "0000473696" "00011848" "95" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "2" "" "0000473697" "00011848" "95" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "2" "" "0000473698" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473699" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "A-domain, bB" "0000473700" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473701" "00011848" "95" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "2" "" "0000473702" "00011848" "95" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Glu)" "2" "A-domain, bB" "0000473703" "00011848" "95" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Glu)" "2" "" "0000473704" "00011848" "95" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Ala128Pro)" "2" "A-domain, bB" "0000473705" "00011848" "95" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "2" "A-domain, bC" "0000473706" "00011848" "95" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Val150Glyfs*15)" "2" "" "0000473707" "00011848" "95" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Leu146Arg)" "2" "" "0000473708" "00011848" "95" "477" "0" "477" "0" "c.477C>T" "r.spl" "p.(?)" "2" "" "0000473709" "00011848" "95" "513" "0" "530" "0" "c.513_530del" "r.(?)" "p.(Asp171_Val176del)" "2" "A-domain, a4" "0000473710" "00011848" "95" "513" "0" "530" "0" "c.513_530del" "r.(?)" "p.(Asp171_Val176del)" "2" "" "0000473711" "00011848" "95" "518" "0" "518" "0" "c.518C>A" "r.(?)" "p.(Ala173Asp)" "2" "A-domain, a4" "0000473712" "00011848" "95" "518" "0" "518" "0" "c.518C>A" "r.(?)" "p.(Ala173Asp)" "2" "" "0000473713" "00011848" "95" "575" "0" "575" "0" "c.575T>A" "r.(?)" "p.(Ile192Asn)" "2" "A-domain, bD" "0000473714" "00011848" "95" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Ile192Thr)" "2" "" "0000473715" "00011848" "95" "584" "0" "584" "0" "c.584C>A" "r.(?)" "p.(Thr195Lys)" "2" "A-domain, bD" "0000473716" "00011848" "95" "584" "0" "584" "0" "c.584C>A" "r.(?)" "p.(Thr195Lys)" "2" "" "0000473717" "00011848" "95" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "2" "" "0000473718" "00011848" "95" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "2" "A-domain, a5" "0000473719" "00011848" "95" "652" "0" "652" "0" "c.652T>A" "r.(?)" "p.(Tyr218Asn)" "2" "A-domain, bE" "0000473720" "00011848" "95" "652" "0" "652" "0" "c.652T>A" "r.(?)" "p.(Tyr218Asn)" "2" "" "0000473721" "00011848" "75" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "2" "A-domain, bE" "0000473722" "00011848" "55" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "2" "" "0000473723" "00011848" "95" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "2" "A-domain, bE" "0000473724" "00011848" "95" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Val220Ala)" "2" "" "0000473725" "00011848" "95" "693" "0" "693" "0" "c.693G>C" "r.(?)" "p.(Lys231Asn)" "2" "A-domain, a6" "0000473726" "00011848" "95" "693" "0" "693" "0" "c.693G>C" "r.(?)" "p.(Lys231Asn)" "2" "" "0000473727" "00011848" "55" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Val245Met)" "2" "A-domain, bF" "0000473728" "00011848" "55" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "2" "" "0000473729" "00011848" "15" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "2" "A-domain, a7" "0000473730" "00011848" "15" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "2" "" "0000473731" "00011848" "95" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "3" "" "0000473732" "00011848" "95" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "3" "" "0000473733" "00011848" "95" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "3" "" "0000473734" "00011848" "55" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "3" "" "0000473735" "00011848" "95" "910" "0" "910" "0" "c.910T>A" "r.(?)" "p.(Cys304Ser)" "4" "EGF1 domain" "0000513880" "00011848" "90" "5288" "0" "5288" "0" "c.*3827A>G" "r.(=)" "p.(=)" "" "" "0000513883" "00011848" "50" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Tyr421Asn)" "" "" "0000513884" "00011848" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "" "0000513885" "00011848" "30" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "" "" "0000513888" "00011848" "30" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "" "" "0000513889" "00011848" "50" "738" "0" "738" "0" "c.738G>T" "r.(?)" "p.(Glu246Asp)" "" "" "0000513890" "00011848" "70" "344" "0" "344" "0" "c.344T>A" "r.(?)" "p.(Ile115Asn)" "" "" "0000513899" "00011848" "30" "187" "0" "187" "0" "c.187T>G" "r.(?)" "p.(Ser63Ala)" "" "" "0000513900" "00011848" "30" "62" "0" "62" "0" "c.62T>G" "r.(?)" "p.(Leu21Arg)" "" "" "0000600857" "00011848" "90" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "2" "" "0000607383" "00011848" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "" "0000650392" "00011848" "30" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "" "" "0000650393" "00011848" "30" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "" "" "0000669590" "00011848" "30" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "" "" "0000676438" "00011848" "30" "526" "0" "526" "0" "c.526G>T" "r.(?)" "p.(Val176Leu)" "" "" "0000688598" "00011848" "50" "790" "1" "790" "1" "c.790+1G>T" "r.spl?" "p.?" "" "" "0000688599" "00011848" "50" "387" "0" "387" "0" "c.387C>A" "r.(?)" "p.(Ser129Arg)" "" "" "0000718374" "00011848" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ile110=)" "" "" "0000800267" "00011848" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Val222Met)" "" "" "0000831120" "00011848" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "" "0000858240" "00011848" "70" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "" "" "0000884679" "00011848" "90" "5288" "0" "5288" "0" "c.*3827A>G" "r.(=)" "p.(=)" "" "" "0000884680" "00011848" "30" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Thr303Met)" "" "" "0000884681" "00011848" "30" "693" "0" "693" "0" "c.693G>C" "r.(?)" "p.(Lys231Asn)" "" "" "0000911506" "00011848" "30" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486His)" "" "" "0000947678" "00011848" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Val278Ile)" "" "" "0000992366" "00011848" "30" "1228" "0" "1228" "0" "c.1228G>T" "r.(?)" "p.(Ala410Ser)" "" "" "0000992367" "00011848" "50" "1091" "0" "1091" "0" "c.1091T>A" "r.(?)" "p.(Val364Glu)" "" "" "0000992368" "00011848" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(His288Tyr)" "" "" "0000992369" "00011848" "30" "503" "0" "503" "0" "c.503C>A" "r.(?)" "p.(Thr168Lys)" "" "" "0001024464" "00011848" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "" "0001032894" "00011848" "50" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224Gln)" "" "" "0001050535" "00011848" "50" "5327" "0" "5327" "0" "c.*3866C>A" "r.(=)" "p.(=)" "" "" "0001050536" "00011848" "50" "1381" "0" "1381" "0" "c.1381dup" "r.(?)" "p.(Tyr461Leufs*8)" "" "" "0001050537" "00011848" "50" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Ala173Gly)" "" "" "0001063352" "00011848" "50" "1160" "0" "1160" "0" "c.1160C>A" "r.(?)" "p.(Thr387Lys)" "" "" "0001063353" "00011848" "50" "-17" "0" "1" "0" "c.-17_1dup" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000101037" "0000163484" "0000231610" "0000473733" "0000231611" "0000473707" "0000231612" "0000473708" "0000231613" "0000473702" "0000231614" "0000473703" "0000231615" "0000473704" "0000231616" "0000473684" "0000231617" "0000473711" "0000231618" "0000473712" "0000231619" "0000473723" "0000231620" "0000473687" "0000231621" "0000473698" "0000231622" "0000473699" "0000231623" "0000473677" "0000231624" "0000473678" "0000231625" "0000473679" "0000231626" "0000473700" "0000231627" "0000473701" "0000231628" "0000473717" "0000231629" "0000473718" "0000231630" "0000473683" "0000231631" "0000473691" "0000231632" "0000473692" "0000231633" "0000473709" "0000231634" "0000473710" "0000231635" "0000473735" "0000231636" "0000473705" "0000231637" "0000473680" "0000231638" "0000473729" "0000231639" "0000473730" "0000231640" "0000473713" "0000231641" "0000473681" "0000231642" "0000473714" "0000231643" "0000473725" "0000231644" "0000473726" "0000231645" "0000473693" "0000231646" "0000473694" "0000231647" "0000473695" "0000231648" "0000473696" "0000231649" "0000473676" "0000231650" "0000473697" "0000231651" "0000473715" "0000231652" "0000473716" "0000231653" "0000473719" "0000231654" "0000473720" "0000231655" "0000473721" "0000231656" "0000473685" "0000231657" "0000473682" "0000231658" "0000473724" "0000231659" "0000473727" "0000231660" "0000473706" "0000231661" "0000473686" "0000231661" "0000473688" "0000231662" "0000473722" "0000231662" "0000473728" "0000231662" "0000473734" "0000231663" "0000473731" "0000231663" "0000473732" "0000231664" "0000473689" "0000231664" "0000473690" "0000268180" "0000600857" "0000293703" "0000650392" "0000293704" "0000650393" "0000305902" "0000669590" "0000398853" "0000831120"