### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BAG3)
# 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}}"
"BAG3" "BCL2-associated athanogene 3" "10" "q25.2-q26.2" "unknown" "NG_016125.1" "UD_132085425158" "" "https://www.LOVD.nl/BAG3" "" "1" "939" "9531" "603883" "1" "1" "1" "1" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "" "g" "https://databases.lovd.nl/shared/refseq/BAG3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-01-20 12:51:25" "00000" "2025-11-01 13:22:20"
## 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}}"
"00003247" "BAG3" "BCL2-associated athanogene 3" "001" "NM_004281.3" "" "NP_004272.2" "" "" "" "-306" "2265" "1728" "121410882" "121437331" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01"
"00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25"
"01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03218" "MFM6" "myopathy, myofibrillar, type 6, BAG3-related (MFM-6)" "AD" "612954" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03481" "CMD1HH" "cardiomyopathy, dilated, type 1HH (CMD-1HH)" "AD" "613881" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03859" "PAPA6" "polydactyly, postaxial, type A6 (PAPA-6)" "AR" "615226" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43"
"04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" ""
"05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32"
"05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"BAG3" "03218"
"BAG3" "03481"
## Individuals ## Do not remove or alter this header ##
## Count = 36
"{{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}}"
"00065234" "" "" "" "2" "" "00006" "Fichna ESHG2016 P10.20" "3-generation family, 2 affecteds (2M)" "M" "no" "Poland" "" "0" "" "" "" ""
"00102104" "" "" "" "1" "" "01867" "" "" "M" "yes" "Pakistan" "" "0" "" "" "Pastoon" "BD267-4"
"00128385" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "82"
"00128448" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "210"
"00163905" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" ""
"00183197" "" "" "" "2" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 2 affecteds" "M" "" "Netherlands" "" "0" "" "" "" ""
"00183198" "" "" "" "1" "" "00006" "{PMID:Selcen 2009:19085932}" "" "M" "" "" ">15y" "0" "" "" "" ""
"00183199" "" "" "" "1" "" "00006" "{PMID:Selcen 2009:19085932}" "" "F" "" "" ">17y" "0" "" "" "" ""
"00183200" "" "" "" "1" "" "00006" "{PMID:Selcen 2009:19085932}" "" "M" "" "" "13y" "0" "" "" "" ""
"00183201" "" "" "" "1" "" "00006" "{PMID:Sabatelli 1992:1517757}" "" "M" "" "Italy" "20y" "0" "" "" "" ""
"00183202" "" "" "" "1" "" "00006" "{PMID:Odgerel 2010:20605452}" "" "M" "" "United Kingdom (Great Britain)" "15y" "0" "" "" "British" ""
"00183203" "" "" "" "1" "" "00006" "{PMID:Odgerel 2010:20605452}" "" "M" "" "United Kingdom (Great Britain)" ">29y" "0" "" "" "British" ""
"00183204" "" "" "" "1" "" "00006" "{PMID:Odgerel 2010:20605452}" "" "M" "" "United Kingdom (Great Britain)" "9y" "0" "" "" "British" ""
"00183205" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "Hispanic" ""
"00183206" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" ""
"00183207" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "" ""
"00183208" "" "" "" "1" "" "00509" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00183209" "" "" "" "1" "" "00509" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00207796" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00289994" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295115" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00296541" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296709" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "white" "NCG_00522"
"00311374" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" ""
"00314064" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00376393" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat004"
"00391936" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0118/B-130"
"00417689" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" ""
"00442740" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat112"
"00446808" "" "" "" "2" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case solved" "" "" "" "" "0" "" "" "" "FamHPat93"
"00446834" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat130"
"00446856" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "FamKPat158"
"00446868" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat180"
"00446883" "" "" "00446808" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamHPat176"
"00453159" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam413Pat445"
"00460289" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, family history" "" "" "Spain" "" "0" "" "" "" "Pat60"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 35
"{{individualid}}" "{{diseaseid}}"
"00065234" "05126"
"00102104" "03859"
"00128385" "00198"
"00128448" "00198"
"00163905" "00198"
"00183197" "00352"
"00183198" "05299"
"00183199" "05299"
"00183200" "05299"
"00183201" "05299"
"00183202" "05299"
"00183203" "05299"
"00183204" "05299"
"00183205" "05299"
"00183206" "05299"
"00183207" "05299"
"00183208" "00352"
"00183209" "00352"
"00289994" "00198"
"00295115" "00198"
"00296541" "00198"
"00296709" "00198"
"00311374" "03481"
"00314064" "05126"
"00376393" "00352"
"00391936" "05324"
"00417689" "00351"
"00442740" "05618"
"00446808" "04173"
"00446834" "04173"
"00446856" "04173"
"00446868" "04173"
"00446883" "04173"
"00453159" "04172"
"00460289" "01273"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 01273, 03218, 03481, 03859, 04172, 04173, 05126, 05299, 05324, 05618
## Count = 31
"{{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}}"
"0000051341" "05126" "00065234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081659" "03859" "00102104" "01867" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000100601" "00198" "00128385" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" ""
"0000100667" "00198" "00128448" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" ""
"0000129017" "00198" "00163905" "01807" "Unknown" "" "HP:0001644 (Dilated cardiomyopathy)" "" "" "" "" "" "" "" "" "" "" ""
"0000143951" "00352" "00183197" "00006" "Familial" "" "mild DCM, 1 case peripartum cardiomyopathy" "" "" "" "" "" "" "" "" "CMD-1HH" "cardiomyopathy, dilated" ""
"0000143952" "05299" "00183198" "00006" "Isolated (sporadic)" "" "toe walker (early childhood); early teens restrictive cardiomyopathy;13y-heart transplant; 15y-severe diffuse muscle weakness, atrophy, contractures knees/ankles, bilateral diaphragm paralysis, respiratory insufficiency; raised CPK (3x)" "" "" "" "BAG3 wide and faster migrating band" "" "" "" "" "MFM-6" "MFM-B" ""
"0000143953" "05299" "00183199" "00006" "Isolated (sporadic)" "" "14y-restrictive respiratory insufficiency, required assisted night ventilation; 15y-hypernasal speech, axial and moderately severe distal more than proximal muscle weakness; 17y-increased spinal stiffness/proximal weakness, EMG and nerve conduction myopathic motor unit potentials, axonal and demyelinating peripheral neuropathy, ECG hypertrophic cardiomyopathy; raised CPK (6x)" "13y" "" "scoliosis, rigid spine, easy fatigability" "BAG3 wide and faster migrating band" "" "" "" "" "MFM-6" "MFM-B" ""
"0000143954" "05299" "00183200" "00006" "Isolated (sporadic)" "" "toe walker as toddler; 7y-progressive leg weakness, fatigability, valgus ankle deformity; 11y-moderate proximal muscle weakness, thoracic scoliosis, rigid spine predominantly affecting cervical region, ECG restrictive cardiomyopathy (slightly large left atrium, trivial pulmonary/mitral regurgitation); 12y-rapid progression, marked weakness axial/proximal limb muscles, scapular winging, reduced forced vital capacity; 13y-respiratory insufficiency, intolerant for nocturnal ventilatory support; died after chest infection; raised CPK (15x)" "" "" "" "BAG3 wide and faster migrating band" "" "" "" "" "MFM-6" "MFM-B" ""
"0000143955" "05299" "00183201" "00006" "Isolated (sporadic)" "" "12y-bilateral pes cavus, slight dorsal scoliosis, neck/distal leg muscle weakness progressing to generalized wasting, restrictive cardiomyopathy (secondary enlargement both atria); muscle biopsy showed accumulation dark dense material throughout myofiber sarcoplasm (desmin positive), increment intermyofibrillar spaces, multiple core areas; reduced density myelinated axons, occurrence giant axons; 20y-died cardiac/respiratory failure" "12y" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143956" "05299" "00183202" "00006" "Isolated (sporadic)" "" "5y-problems running 10y-diagnosis restrictive cardiomyopathy; 13y-heart transplantation, ventilator-dependent; global muscle weakness (predominantly proximal/respiratory muscles); muscle biopsy atrophic fibers, focal myofibrillar disorganization, dark inclusions (desmin prominence), moderate reduction large diameter myelinated fibers, visible loss smaller diameter fibers, occasional giant axons having thin/absent myelin sheaths" "5y" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143957" "05299" "00183203" "00006" "Isolated (sporadic)" "" "predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 14y-cardiac transplant; 29y-ventilator dependent; severely disabled; muscle biopsy showed myofibrillar breakdown, desmin-reactive inclusions, Z-line streaming" "12y" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143958" "05299" "00183204" "00006" "Isolated (sporadic)" "" "predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 9y-died soon after disease onset" "9y" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143959" "05299" "00183205" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143960" "05299" "00183206" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143961" "05299" "00183207" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "MFM-6" "myopathy, myofibrillar" ""
"0000143962" "00352" "00183208" "00509" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMD-1HH" "cardiomyopathy, dilated" ""
"0000143963" "00352" "00183209" "00509" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMD-1HH" "cardiomyopathy, dilated" ""
"0000155579" "00198" "00207796" "01164" "Unknown" "" "HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia)" "" "" "" "" "" "" "" "" "" "" ""
"0000223948" "00198" "00296541" "01164" "Unknown" "" "Elevated serum creatine phosphokinase (HP:0003236); Muscle weakness (HP:0001324); Polyneuropathy (HP:0001271); Sensory impairment (HP:0003474); Type I diabetes mellitus (HP:0100651); Abnormality of the musculature (HP:0003011)" "" "" "" "" "" "" "" "" "" "" ""
"0000224109" "00198" "00296709" "00006" "Unknown" "40y" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" ""
"0000271601" "00352" "00376393" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ""
"0000285226" "05324" "00391936" "03501" "Unknown" "23y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), difficulty climbing stairs (HP:0003551)" "15y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" ""
"0000332087" "05618" "00442740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Brody syndrome" ""
"0000336012" "04173" "00446808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" ""
"0000336038" "04173" "00446834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" ""
"0000336060" "04173" "00446856" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" ""
"0000336072" "04173" "00446868" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" ""
"0000336087" "04173" "00446883" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" ""
"0000341805" "04172" "00453159" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" ""
"0000348018" "01273" "00460289" "00006" "Unknown" "10y-18y" "exercise intolerance; elevated CK level 560-3900 UI/L; myofibrillar features; MRI muscle normal" "" "" "" "AMPIS (DES…)" "" "" "" "" "" "exercise intolerance" ""
## Screenings ## Do not remove or alter this header ##
## Count = 36
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000065386" "00065234" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000102555" "00102104" "1" "01867" "01867" "2017-03-30 12:52:43" "" "" "SEQ-NG-I" "DNA" "" ""
"0000129223" "00128385" "1" "02244" "02244" "2017-09-15 15:08:12" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)"
"0000129286" "00128448" "1" "02244" "02244" "2017-09-15 17:33:43" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)"
"0000164769" "00163905" "1" "01807" "01807" "2018-04-23 08:50:58" "" "" "SEQ" "DNA" "" ""
"0000184155" "00183197" "1" "00006" "00006" "2014-03-29 23:54:35" "" "" "SEQ-NG-I" "DNA" "" ""
"0000184156" "00183198" "1" "00006" "00006" "2010-03-11 21:40:57" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" ""
"0000184157" "00183199" "1" "00006" "00006" "2010-03-11 21:40:57" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" ""
"0000184158" "00183200" "1" "00006" "00006" "2010-03-11 21:40:57" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000184159" "00183201" "1" "00006" "00006" "2010-11-12 16:31:12" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" ""
"0000184160" "00183202" "1" "00006" "00006" "2010-11-12 16:31:12" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" ""
"0000184161" "00183203" "1" "00006" "00006" "2010-11-12 16:31:12" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000184162" "00183204" "1" "00006" "00006" "2010-11-12 16:31:12" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" ""
"0000184163" "00183205" "1" "00464" "00006" "2012-01-06 15:47:00" "00006" "2012-03-09 19:12:55" "PCR;SEQ" "DNA" "" ""
"0000184164" "00183206" "1" "00464" "00006" "2012-10-19 17:57:44" "00006" "2012-10-23 21:13:41" "PCR;SEQ" "DNA" "" ""
"0000184165" "00183207" "1" "00464" "00006" "2013-01-15 21:29:24" "00006" "2013-01-17 21:22:54" "PCR;SEQ" "DNA" "" ""
"0000184166" "00183208" "1" "00509" "00006" "2011-07-23 03:08:57" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000184167" "00183209" "1" "00509" "00006" "2011-07-23 03:13:06" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000208837" "00207796" "1" "01164" "01164" "2018-11-30 14:43:57" "" "" "SEQ-NG" "DNA" "" ""
"0000291162" "00289994" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296283" "00295115" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000297651" "00296541" "1" "01164" "01164" "2020-04-08 09:51:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297819" "00296709" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312533" "00311374" "1" "01741" "01741" "2020-09-23 11:18:10" "" "" "SEQ" "DNA" "" ""
"0000315237" "00314064" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000377598" "00376393" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel"
"0000393178" "00391936" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A3, LAMA2, BAG3, COL6A1, COL6A2, SGCB, CAPN3, DYSF, FLNC, SGCA, SGCD, SGCG, PLEC, SYNE1"
"0000418983" "00417689" "1" "04384" "04384" "2022-09-21 17:00:51" "" "" "SEQ-NG" "DNA" "" ""
"0000444224" "00442740" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
"0000448383" "00446808" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000448409" "00446834" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000448431" "00446856" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000448443" "00446868" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000448458" "00446883" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000454770" "00453159" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" ""
"0000461920" "00460289" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}" "{{geneid}}"
"0000065386" "ANO5"
"0000065386" "BAG3"
"0000102555" "MAD1L1"
"0000184155" "BAG3"
"0000184156" "BAG3"
"0000184157" "BAG3"
"0000184158" "BAG3"
"0000184159" "BAG3"
"0000184160" "BAG3"
"0000184161" "BAG3"
"0000184162" "BAG3"
"0000184163" "BAG3"
"0000184164" "BAG3"
"0000184165" "BAG3"
"0000184166" "BAG3"
"0000184167" "BAG3"
"0000297819" "BAG3"
"0000312533" "BAG3"
"0000315237" "BAG3"
"0000377598" "BAG3"
"0000418983" "BAG3"
## 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 = 381
"{{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}}"
"0000097059" "1" "50" "10" "121431813" "121431813" "subst" "5.73564E-5" "00006" "BAG3_000019" "g.121431813C>T" "" "Fichna ESHG2016 P10.20" "" "S185L" "" "Germline" "" "" "0" "" "" "g.119672301C>T" "" "VUS" ""
"0000168831" "0" "10" "10" "121436204" "121436204" "subst" "0.00122243" "01867" "BAG3_000020" "g.121436204C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119676692C>T" "" "benign" ""
"0000168832" "0" "90" "10" "121429369" "121429369" "subst" "0.00131709" "01867" "BAG3_000021" "g.121429369C>G" "" "" "" "" "variant is pathogenic but not causing disease" "Germline" "" "" "0" "" "" "g.119669857C>G" "" "pathogenic" ""
"0000218355" "0" "90" "10" "121431911" "121431911" "subst" "7.72182E-5" "02244" "BAG3_000009" "g.121431911C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.119672399C>T" "" "pathogenic" ""
"0000218356" "0" "50" "10" "121436489" "121436489" "subst" "2.84271E-5" "02244" "BAG3_000024" "g.121436489G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.119676977G>A" "" "VUS" ""
"0000218442" "0" "50" "10" "121429597" "121429597" "subst" "0.000158711" "02244" "BAG3_000022" "g.121429597C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.119670085C>T" "" "VUS" ""
"0000246894" "0" "10" "10" "121436362" "121436362" "subst" "0.738374" "02330" "BAG3_000007" "g.121436362A>G" "" "" "" "BAG3(NM_004281.3):c.1296A>G (p.V432=), BAG3(NM_004281.4):c.1296A>G (p.V432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676850A>G" "" "benign" ""
"0000246895" "0" "10" "10" "121435955" "121435955" "subst" "0.673755" "02330" "BAG3_000075" "g.121435955A>C" "" "" "" "BAG3(NM_004281.3):c.910-21A>C, BAG3(NM_004281.4):c.910-21A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676443A>C" "" "benign" ""
"0000246905" "0" "10" "10" "121429563" "121429563" "subst" "7.71762E-5" "02330" "BAG3_000058" "g.121429563A>T" "" "" "" "BAG3(NM_004281.4):c.381A>T (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670051A>T" "" "benign" ""
"0000246906" "0" "10" "10" "121429647" "121429647" "subst" "4.12473E-5" "02330" "BAG3_000062" "g.121429647A>G" "" "" "" "BAG3(NM_004281.4):c.465A>G (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670135A>G" "" "benign" ""
"0000246920" "0" "10" "10" "121411212" "121411212" "subst" "0.000358838" "02330" "BAG3_000048" "g.121411212A>G" "" "" "" "BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651700A>G" "" "benign" ""
"0000248176" "0" "10" "10" "121436362" "121436362" "subst" "0.738374" "02325" "BAG3_000007" "g.121436362A>G" "" "" "" "BAG3(NM_004281.3):c.1296A>G (p.V432=), BAG3(NM_004281.4):c.1296A>G (p.V432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676850A>G" "" "benign" ""
"0000249844" "0" "50" "10" "121436807" "121436807" "subst" "0" "02325" "BAG3_000039" "g.121436807A>G" "" "" "" "BAG3(NM_004281.4):c.*13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677295A>G" "" "VUS" ""
"0000250879" "0" "10" "10" "121436362" "121436362" "subst" "0.738374" "02326" "BAG3_000007" "g.121436362A>G" "" "" "" "BAG3(NM_004281.3):c.1296A>G (p.V432=), BAG3(NM_004281.4):c.1296A>G (p.V432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676850A>G" "" "benign" ""
"0000250983" "0" "10" "10" "121435955" "121435955" "subst" "0.673755" "02326" "BAG3_000075" "g.121435955A>C" "" "" "" "BAG3(NM_004281.3):c.910-21A>C, BAG3(NM_004281.4):c.910-21A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676443A>C" "" "benign" ""
"0000254228" "0" "30" "10" "121436482" "121436482" "subst" "0" "01943" "BAG3_000085" "g.121436482A>G" "" "" "" "BAG3(NM_004281.3):c.1416A>G (p.G472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676970A>G" "" "likely benign" ""
"0000258549" "0" "10" "10" "121411171" "121411171" "subst" "0.00257057" "02330" "BAG3_000025" "g.121411171G>A" "" "" "" "BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651659G>A" "" "benign" ""
"0000258550" "0" "10" "10" "121436068" "121436068" "subst" "0.117156" "02330" "BAG3_000005" "g.121436068T>G" "" "" "" "BAG3(NM_004281.4):c.1002T>G (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676556T>G" "" "benign" ""
"0000258551" "0" "10" "10" "121436095" "121436095" "subst" "0.000207105" "02330" "BAG3_000080" "g.121436095C>A" "" "" "" "BAG3(NM_004281.3):c.1029C>A (p.R343=), BAG3(NM_004281.4):c.1029C>A (p.R343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676583C>A" "" "benign" ""
"0000258552" "0" "50" "10" "121436165" "121436165" "subst" "0" "02330" "BAG3_000082" "g.121436165C>A" "" "" "" "BAG3(NM_004281.4):c.1099C>A (p.P367T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676653C>A" "" "VUS" ""
"0000258553" "0" "50" "10" "121436192" "121436192" "subst" "4.06105E-6" "02330" "BAG3_000083" "g.121436192C>T" "" "" "" "BAG3(NM_004281.3):c.1126C>T (p.P376S), BAG3(NM_004281.4):c.1126C>T (p.P376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676680C>T" "" "VUS" ""
"0000258554" "0" "10" "10" "121436204" "121436204" "subst" "0.00122243" "02330" "BAG3_000020" "g.121436204C>T" "" "" "" "BAG3(NM_004281.3):c.1138C>T (p.P380S), BAG3(NM_004281.4):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676692C>T" "" "benign" ""
"0000258555" "0" "50" "10" "121436298" "121436300" "del" "0" "02330" "BAG3_000084" "g.121436298_121436300del" "" "" "" "BAG3(NM_004281.3):c.1232_1234delGAG (p.G411del), BAG3(NM_004281.4):c.1232_1234delGAG (p.G411del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676786_119676788del" "" "VUS" ""
"0000258556" "0" "50" "10" "121436499" "121436502" "del" "0" "02330" "BAG3_000086" "g.121436499_121436502del" "" "" "" "BAG3(NM_004281.4):c.1433_1436delAGGC (p.Q478Pfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676987_119676990del" "" "VUS" ""
"0000258557" "0" "10" "10" "121436569" "121436569" "subst" "0.000227406" "02330" "BAG3_000088" "g.121436569C>A" "" "" "" "BAG3(NM_004281.3):c.1503C>A (p.V501=), BAG3(NM_004281.4):c.1503C>A (p.V501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677057C>A" "" "benign" ""
"0000258558" "0" "10" "10" "121436653" "121436653" "subst" "0.000463064" "02330" "BAG3_000090" "g.121436653C>T" "" "" "" "BAG3(NM_004281.3):c.1587C>T (p.A529=), BAG3(NM_004281.4):c.1587C>T (p.A529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677141C>T" "" "benign" ""
"0000258559" "0" "50" "10" "121436691" "121436691" "subst" "4.87615E-5" "02330" "BAG3_000092" "g.121436691C>T" "" "" "" "BAG3(NM_004281.3):c.1625C>T (p.A542V, p.(Ala542Val)), BAG3(NM_004281.4):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677179C>T" "" "VUS" ""
"0000258560" "0" "10" "10" "121436791" "121436791" "subst" "8.13776E-6" "02330" "BAG3_000038" "g.121436791G>A" "" "" "" "BAG3(NM_004281.4):c.1725G>A (p.P575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677279G>A" "" "benign" ""
"0000258561" "0" "10" "10" "121429354" "121429354" "subst" "0.000740729" "02330" "BAG3_000053" "g.121429354T>A" "" "" "" "BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669842T>A" "" "benign" ""
"0000258562" "0" "10" "10" "121429369" "121429369" "subst" "0.00131709" "02330" "BAG3_000021" "g.121429369C>G" "" "" "" "BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669857C>G" "" "benign" ""
"0000258563" "0" "50" "10" "121429393" "121429393" "subst" "0.000150364" "02330" "BAG3_000012" "g.121429393C>T" "" "" "" "BAG3(NM_004281.4):c.211C>T (p.R71W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669881C>T" "" "VUS" ""
"0000258564" "0" "30" "10" "121429412" "121429412" "subst" "0.000288414" "02330" "BAG3_000055" "g.121429412C>T" "" "" "" "BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669900C>T" "" "likely benign" ""
"0000258565" "0" "10" "10" "121429413" "121429413" "subst" "0.00112927" "02330" "BAG3_000056" "g.121429413G>A" "" "" "" "BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669901G>A" "" "benign" ""
"0000258566" "0" "10" "10" "121429431" "121429431" "subst" "0.000747238" "02330" "BAG3_000057" "g.121429431C>A" "" "" "" "BAG3(NM_004281.3):c.249C>A (p.H83Q), BAG3(NM_004281.4):c.249C>A (p.H83Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669919C>A" "" "benign" ""
"0000258567" "0" "50" "10" "121429598" "121429598" "subst" "1.22078E-5" "02330" "BAG3_000060" "g.121429598G>A" "" "" "" "BAG3(NM_004281.4):c.416G>A (p.R139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670086G>A" "" "VUS" ""
"0000258568" "0" "10" "10" "121429653" "121429653" "subst" "4.97162E-5" "02330" "BAG3_000063" "g.121429653G>A" "" "" "" "BAG3(NM_004281.4):c.471G>A (p.A157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670141G>A" "" "benign" ""
"0000258570" "0" "10" "10" "121429665" "121429665" "subst" "0" "02330" "BAG3_000066" "g.121429665G>A" "" "" "" "BAG3(NM_004281.3):c.483G>A (p.Q161=), BAG3(NM_004281.4):c.483G>A (p.Q161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670153G>A" "" "benign" ""
"0000258571" "0" "50" "10" "121431767" "121431767" "subst" "3.31546E-5" "02330" "BAG3_000067" "g.121431767C>T" "" "" "" "BAG3(NM_004281.4):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672255C>T" "" "VUS" ""
"0000258572" "0" "10" "10" "121431865" "121431865" "subst" "0.00108347" "02330" "BAG3_000072" "g.121431865G>T" "" "" "" "BAG3(NM_004281.3):c.606G>T (p.P202=), BAG3(NM_004281.4):c.606G>T (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672353G>T" "" "benign" ""
"0000258573" "0" "10" "10" "121431871" "121431871" "subst" "0" "02330" "BAG3_000073" "g.121431871G>A" "" "" "" "BAG3(NM_004281.3):c.612G>A (p.G204=), BAG3(NM_004281.4):c.612G>A (p.G204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672359G>A" "" "benign" ""
"0000258574" "0" "50" "10" "121411254" "121411254" "subst" "3.44935E-5" "02330" "BAG3_000050" "g.121411254C>T" "" "" "" "BAG3(NM_004281.4):c.67C>T (p.P23S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651742C>T" "" "VUS" ""
"0000258575" "0" "10" "10" "121432030" "121432030" "subst" "0.000154844" "02330" "BAG3_000027" "g.121432030C>T" "" "" "" "BAG3(NM_004281.3):c.771C>T (p.P257=), BAG3(NM_004281.4):c.771C>T (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672518C>T" "" "benign" ""
"0000258576" "0" "10" "10" "121432129" "121432129" "subst" "0.000223756" "02330" "BAG3_000032" "g.121432129C>G" "" "" "" "BAG3(NM_004281.4):c.870C>G (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672617C>G" "" "benign" ""
"0000258577" "0" "10" "10" "121432147" "121432147" "subst" "0.000509244" "02330" "BAG3_000033" "g.121432147C>T" "" "" "" "BAG3(NM_004281.3):c.888C>T (p.H296=), BAG3(NM_004281.4):c.888C>T (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672635C>T" "" "benign" ""
"0000258578" "0" "10" "10" "121432185" "121432185" "subst" "0.00034026" "02330" "BAG3_000035" "g.121432185G>A" "" "" "" "BAG3(NM_004281.4):c.909+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672673G>A" "" "benign" ""
"0000259352" "0" "30" "10" "121411171" "121411171" "subst" "0.00257057" "02325" "BAG3_000025" "g.121411171G>A" "" "" "" "BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651659G>A" "" "likely benign" ""
"0000259353" "0" "30" "10" "121436653" "121436653" "subst" "0.000463064" "02325" "BAG3_000090" "g.121436653C>T" "" "" "" "BAG3(NM_004281.3):c.1587C>T (p.A529=), BAG3(NM_004281.4):c.1587C>T (p.A529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677141C>T" "" "likely benign" ""
"0000259354" "0" "30" "10" "121429354" "121429354" "subst" "0.000740729" "02325" "BAG3_000053" "g.121429354T>A" "" "" "" "BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669842T>A" "" "likely benign" ""
"0000259355" "0" "30" "10" "121429412" "121429412" "subst" "0.000288414" "02325" "BAG3_000055" "g.121429412C>T" "" "" "" "BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669900C>T" "" "likely benign" ""
"0000259356" "0" "30" "10" "121429413" "121429413" "subst" "0.00112927" "02325" "BAG3_000056" "g.121429413G>A" "" "" "" "BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669901G>A" "" "likely benign" ""
"0000259357" "0" "30" "10" "121429665" "121429665" "subst" "0" "02325" "BAG3_000066" "g.121429665G>A" "" "" "" "BAG3(NM_004281.3):c.483G>A (p.Q161=), BAG3(NM_004281.4):c.483G>A (p.Q161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670153G>A" "" "likely benign" ""
"0000259358" "0" "30" "10" "121432030" "121432030" "subst" "0.000154844" "02325" "BAG3_000027" "g.121432030C>T" "" "" "" "BAG3(NM_004281.3):c.771C>T (p.P257=), BAG3(NM_004281.4):c.771C>T (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672518C>T" "" "likely benign" ""
"0000259359" "0" "30" "10" "121432147" "121432147" "subst" "0.000509244" "02325" "BAG3_000033" "g.121432147C>T" "" "" "" "BAG3(NM_004281.3):c.888C>T (p.H296=), BAG3(NM_004281.4):c.888C>T (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672635C>T" "" "likely benign" ""
"0000259576" "0" "30" "10" "121429394" "121429394" "subst" "0.0200592" "02325" "BAG3_000003" "g.121429394G>A" "" "" "" "BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669882G>A" "" "likely benign" ""
"0000259577" "0" "30" "10" "121431787" "121431787" "subst" "0" "02325" "BAG3_000068" "g.121431787C>T" "" "" "" "BAG3(NM_004281.4):c.528C>T (p.A176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672275C>T" "" "likely benign" ""
"0000259578" "0" "30" "10" "121431808" "121431808" "subst" "0.00117992" "02325" "BAG3_000070" "g.121431808C>G" "" "" "" "BAG3(NM_004281.3):c.549C>G (p.S183=), BAG3(NM_004281.4):c.549C>G (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672296C>G" "" "likely benign" ""
"0000259579" "0" "30" "10" "121432087" "121432087" "subst" "5.29829E-5" "02325" "BAG3_000030" "g.121432087G>A" "" "" "" "BAG3(NM_004281.3):c.828G>A (p.R276=), BAG3(NM_004281.4):c.828G>A (p.R276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672575G>A" "" "likely benign" ""
"0000259580" "0" "30" "10" "121432114" "121432114" "subst" "0.000398873" "02325" "BAG3_000031" "g.121432114G>A" "" "" "" "BAG3(NM_004281.3):c.855G>A (p.T285=), BAG3(NM_004281.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672602G>A" "" "likely benign" ""
"0000259581" "0" "30" "10" "121411283" "121411283" "subst" "0.000172182" "02325" "BAG3_000051" "g.121411283G>T" "" "" "" "BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651771G>T" "" "likely benign" ""
"0000259582" "0" "30" "10" "121436054" "121436054" "subst" "1.21821E-5" "02325" "BAG3_000078" "g.121436054C>T" "" "" "" "BAG3(NM_004281.4):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676542C>T" "" "likely benign" ""
"0000259707" "0" "50" "10" "121436093" "121436093" "subst" "2.84264E-5" "02325" "BAG3_000079" "g.121436093C>T" "" "" "" "BAG3(NM_004281.4):c.1027C>T (p.R343C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676581C>T" "" "VUS" ""
"0000259708" "0" "50" "10" "121411239" "121411239" "subst" "0" "02325" "BAG3_000049" "g.121411239G>A" "" "" "" "BAG3(NM_004281.3):c.52G>A (p.D18N), BAG3(NM_004281.4):c.52G>A (p.D18N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651727G>A" "" "VUS" ""
"0000261369" "0" "70" "10" "121436153" "121436153" "subst" "0" "02326" "BAG3_000081" "g.121436153G>T" "" "" "" "BAG3(NM_004281.3):c.1087G>T (p.E363*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676641G>T" "" "likely pathogenic" ""
"0000261370" "0" "30" "10" "121436654" "121436654" "subst" "0.000125915" "02326" "BAG3_000091" "g.121436654G>A" "" "" "" "BAG3(NM_004281.3):c.1588G>A (p.V530M), BAG3(NM_004281.4):c.1588G>A (p.V530M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677142G>A" "" "likely benign" ""
"0000261371" "0" "10" "10" "121429354" "121429354" "subst" "0.000740729" "02326" "BAG3_000053" "g.121429354T>A" "" "" "" "BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669842T>A" "" "benign" ""
"0000261372" "0" "30" "10" "121429394" "121429394" "subst" "0.0200592" "02326" "BAG3_000003" "g.121429394G>A" "" "" "" "BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669882G>A" "" "likely benign" ""
"0000261373" "0" "30" "10" "121429412" "121429412" "subst" "0.000288414" "02326" "BAG3_000055" "g.121429412C>T" "" "" "" "BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669900C>T" "" "likely benign" ""
"0000261374" "0" "30" "10" "121431808" "121431808" "subst" "0.00117992" "02326" "BAG3_000070" "g.121431808C>G" "" "" "" "BAG3(NM_004281.3):c.549C>G (p.S183=), BAG3(NM_004281.4):c.549C>G (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672296C>G" "" "likely benign" ""
"0000261375" "0" "10" "10" "121431865" "121431865" "subst" "0.00108347" "02326" "BAG3_000072" "g.121431865G>T" "" "" "" "BAG3(NM_004281.3):c.606G>T (p.P202=), BAG3(NM_004281.4):c.606G>T (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672353G>T" "" "benign" ""
"0000261376" "0" "30" "10" "121431871" "121431871" "subst" "0" "02326" "BAG3_000073" "g.121431871G>A" "" "" "" "BAG3(NM_004281.3):c.612G>A (p.G204=), BAG3(NM_004281.4):c.612G>A (p.G204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672359G>A" "" "likely benign" ""
"0000261377" "0" "30" "10" "121432147" "121432147" "subst" "0.000509244" "02326" "BAG3_000033" "g.121432147C>T" "" "" "" "BAG3(NM_004281.3):c.888C>T (p.H296=), BAG3(NM_004281.4):c.888C>T (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672635C>T" "" "likely benign" ""
"0000261378" "0" "30" "10" "121435992" "121435992" "subst" "5.27983E-5" "02326" "BAG3_000076" "g.121435992G>A" "" "" "" "BAG3(NM_004281.3):c.926G>A (p.R309Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676480G>A" "" "likely benign" ""
"0000261379" "0" "50" "10" "121436023" "121436023" "subst" "8.1217E-6" "02326" "BAG3_000077" "g.121436023C>G" "" "" "" "BAG3(NM_004281.3):c.957C>G (p.N319K), BAG3(NM_004281.4):c.957C>G (p.N319K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676511C>G" "" "VUS" ""
"0000263502" "0" "10" "10" "121411171" "121411171" "subst" "0.00257057" "01943" "BAG3_000025" "g.121411171G>A" "" "" "" "BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651659G>A" "" "benign" ""
"0000263503" "0" "50" "10" "121411184" "121411184" "subst" "9.05564E-5" "01943" "BAG3_000026" "g.121411184C>T" "" "" "" "BAG3(NM_004281.3):c.-4C>T, BAG3(NM_004281.4):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651672C>T" "" "VUS" ""
"0000263504" "0" "30" "10" "121436095" "121436095" "subst" "0.000207105" "01943" "BAG3_000080" "g.121436095C>A" "" "" "" "BAG3(NM_004281.3):c.1029C>A (p.R343=), BAG3(NM_004281.4):c.1029C>A (p.R343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676583C>A" "" "likely benign" ""
"0000263505" "0" "10" "10" "121436204" "121436204" "subst" "0.00122243" "01943" "BAG3_000020" "g.121436204C>T" "" "" "" "BAG3(NM_004281.3):c.1138C>T (p.P380S), BAG3(NM_004281.4):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676692C>T" "" "benign" ""
"0000263506" "0" "50" "10" "121436562" "121436562" "subst" "4.06078E-6" "01943" "BAG3_000087" "g.121436562T>C" "" "" "" "BAG3(NM_004281.3):c.1496T>C (p.I499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677050T>C" "" "VUS" ""
"0000263507" "0" "30" "10" "121436569" "121436569" "subst" "0.000227406" "01943" "BAG3_000088" "g.121436569C>A" "" "" "" "BAG3(NM_004281.3):c.1503C>A (p.V501=), BAG3(NM_004281.4):c.1503C>A (p.V501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677057C>A" "" "likely benign" ""
"0000263508" "0" "50" "10" "121436600" "121436600" "subst" "0.000190872" "01943" "BAG3_000089" "g.121436600C>T" "" "" "" "BAG3(NM_004281.3):c.1534C>T (p.P512S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677088C>T" "" "VUS" ""
"0000263509" "0" "30" "10" "121436654" "121436654" "subst" "0.000125915" "01943" "BAG3_000091" "g.121436654G>A" "" "" "" "BAG3(NM_004281.3):c.1588G>A (p.V530M), BAG3(NM_004281.4):c.1588G>A (p.V530M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119677142G>A" "" "likely benign" ""
"0000263510" "0" "90" "10" "121411368" "121411368" "subst" "0" "01943" "BAG3_000052" "g.121411368G>A" "" "" "" "BAG3(NM_004281.3):c.180+1G>A, BAG3(NM_004281.4):c.180+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651856G>A" "" "pathogenic" ""
"0000263511" "0" "10" "10" "121429354" "121429354" "subst" "0.000740729" "01943" "BAG3_000053" "g.121429354T>A" "" "" "" "BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669842T>A" "" "benign" ""
"0000263512" "0" "10" "10" "121429369" "121429369" "subst" "0.00131709" "01943" "BAG3_000021" "g.121429369C>G" "" "" "" "BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669857C>G" "" "benign" ""
"0000263513" "0" "30" "10" "121429412" "121429412" "subst" "0.000288414" "01943" "BAG3_000055" "g.121429412C>T" "" "" "" "BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669900C>T" "" "likely benign" ""
"0000263514" "0" "10" "10" "121429413" "121429413" "subst" "0.00112927" "01943" "BAG3_000056" "g.121429413G>A" "" "" "" "BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669901G>A" "" "benign" ""
"0000263515" "0" "30" "10" "121429564" "121429564" "subst" "0" "01943" "BAG3_000059" "g.121429564G>A" "" "" "" "BAG3(NM_004281.3):c.382G>A (p.A128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670052G>A" "" "likely benign" ""
"0000263519" "0" "50" "10" "121431797" "121431797" "subst" "0" "01943" "BAG3_000069" "g.121431797T>A" "" "" "" "BAG3(NM_004281.3):c.538T>A (p.S180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672285T>A" "" "VUS" ""
"0000263520" "0" "30" "10" "121431808" "121431808" "subst" "0.00117992" "01943" "BAG3_000070" "g.121431808C>G" "" "" "" "BAG3(NM_004281.3):c.549C>G (p.S183=), BAG3(NM_004281.4):c.549C>G (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672296C>G" "" "likely benign" ""
"0000263521" "0" "30" "10" "121431808" "121431808" "subst" "0" "01943" "BAG3_000071" "g.121431808C>T" "" "" "" "BAG3(NM_004281.3):c.549C>T (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672296C>T" "" "likely benign" ""
"0000263522" "0" "10" "10" "121431865" "121431865" "subst" "0.00108347" "01943" "BAG3_000072" "g.121431865G>T" "" "" "" "BAG3(NM_004281.3):c.606G>T (p.P202=), BAG3(NM_004281.4):c.606G>T (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672353G>T" "" "benign" ""
"0000263523" "0" "30" "10" "121431952" "121431952" "subst" "8.12783E-5" "01943" "BAG3_000074" "g.121431952G>A" "" "" "" "BAG3(NM_004281.3):c.693G>A (p.T231=), BAG3(NM_004281.4):c.693G>A (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672440G>A" "" "likely benign" ""
"0000263524" "0" "30" "10" "121432030" "121432030" "subst" "0.000154844" "01943" "BAG3_000027" "g.121432030C>T" "" "" "" "BAG3(NM_004281.3):c.771C>T (p.P257=), BAG3(NM_004281.4):c.771C>T (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672518C>T" "" "likely benign" ""
"0000263525" "0" "50" "10" "121432044" "121432044" "subst" "4.89544E-5" "01943" "BAG3_000028" "g.121432044C>T" "" "" "" "BAG3(NM_004281.3):c.785C>T (p.A262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672532C>T" "" "VUS" ""
"0000263526" "0" "50" "10" "121432080" "121432080" "subst" "0.000138755" "01943" "BAG3_000029" "g.121432080C>T" "" "" "" "BAG3(NM_004281.3):c.821C>T (p.S274L), BAG3(NM_004281.4):c.821C>T (p.S274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672568C>T" "" "VUS" ""
"0000263527" "0" "30" "10" "121432114" "121432114" "subst" "0.000398873" "01943" "BAG3_000031" "g.121432114G>A" "" "" "" "BAG3(NM_004281.3):c.855G>A (p.T285=), BAG3(NM_004281.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672602G>A" "" "likely benign" ""
"0000263528" "0" "30" "10" "121432147" "121432147" "subst" "0.000509244" "01943" "BAG3_000033" "g.121432147C>T" "" "" "" "BAG3(NM_004281.3):c.888C>T (p.H296=), BAG3(NM_004281.4):c.888C>T (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672635C>T" "" "likely benign" ""
"0000263529" "0" "30" "10" "121432151" "121432151" "subst" "8.56723E-5" "01943" "BAG3_000034" "g.121432151G>A" "" "" "" "BAG3(NM_004281.3):c.892G>A (p.V298M), BAG3(NM_004281.4):c.892G>A (p.V298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672639G>A" "" "likely benign" ""
"0000263530" "0" "10" "10" "121432198" "121432198" "subst" "4.60996E-5" "01943" "BAG3_000036" "g.121432198T>G" "" "" "" "BAG3(NM_004281.3):c.909+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672686T>G" "" "benign" ""
"0000263531" "0" "30" "10" "121411283" "121411283" "subst" "0.000172182" "01943" "BAG3_000051" "g.121411283G>T" "" "" "" "BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651771G>T" "" "likely benign" ""
"0000337050" "0" "30" "10" "121411045" "121411046" "ins" "0" "02327" "BAG3_000040" "g.121411045_121411046insAGT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119651533_119651534insAGT" "" "likely benign" ""
"0000339333" "0" "30" "10" "121432147" "121432147" "subst" "0.000509244" "02327" "BAG3_000033" "g.121432147C>T" "" "" "" "BAG3(NM_004281.3):c.888C>T (p.H296=), BAG3(NM_004281.4):c.888C>T (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672635C>T" "" "likely benign" ""
"0000339334" "0" "10" "10" "121436068" "121436068" "subst" "0.117156" "02327" "BAG3_000005" "g.121436068T>G" "" "" "" "BAG3(NM_004281.4):c.1002T>G (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676556T>G" "" "benign" ""
"0000339335" "0" "10" "10" "121436362" "121436362" "subst" "0.738374" "02327" "BAG3_000007" "g.121436362A>G" "" "" "" "BAG3(NM_004281.3):c.1296A>G (p.V432=), BAG3(NM_004281.4):c.1296A>G (p.V432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676850A>G" "" "benign" ""
"0000343303" "0" "10" "10" "121429394" "121429394" "subst" "0.0200592" "02327" "BAG3_000003" "g.121429394G>A" "" "" "" "BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119669882G>A" "" "benign" ""
"0000344105" "0" "50" "10" "121436408" "121436408" "subst" "0" "02327" "BAG3_000047" "g.121436408G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676896G>A" "" "VUS" ""
"0000344283" "0" "10" "10" "121429633" "121429633" "subst" "0.174285" "02327" "BAG3_000004" "g.121429633T>C" "" "" "" "BAG3(NM_004281.4):c.451T>C (p.C151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670121T>C" "" "benign" ""
"0000348229" "0" "30" "10" "121429669" "121429669" "subst" "1.25435E-5" "02327" "BAG3_000043" "g.121429669C>T" "" "" "" "BAG3(NM_004281.3):c.487C>T (p.P163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119670157C>T" "" "likely benign" ""
"0000348335" "0" "50" "10" "121432053" "121432053" "subst" "4.07814E-6" "02327" "BAG3_000044" "g.121432053C>T" "" "" "" "BAG3(NM_004281.4):c.794C>T (p.P265L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119672541C>T" "" "VUS" ""
"0000348435" "0" "10" "10" "121436286" "121436286" "subst" "0.116903" "02327" "BAG3_000002" "g.121436286C>T" "" "" "" "BAG3(NM_004281.4):c.1220C>T (p.P407L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119676774C>T" "" "benign" ""
"0000368371" "0" "90" "10" "121432148" "121432149" "del" "0" "01807" "BAG3_000093" "g.121432148_121432149del" "" "" "" "889_890delAC" "" "Unknown" "" "" "0" "" "" "g.119672636_119672637del" "" "pathogenic" ""
"0000408124" "1" "90" "10" "121436084" "121436084" "subst" "0" "00006" "BAG3_000018" "g.121436084C>T" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.119676572C>T" "" "pathogenic" ""
"0000408125" "1" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Selcen 2009:19085932}, {OMIM603883:0001}" "" "" "not in 400 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408126" "1" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Selcen 2009:19085932}, {OMIM603883:0001}" "" "" "not in 400 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408127" "1" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Selcen 2009:19085932}, {OMIM603883:0001}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408128" "2" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Odgerel 2010:20605452}" "BsaWI-" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408129" "2" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Odgerel 2010:20605452}" "BsaWI-" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408130" "11" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Odgerel 2010:20605452}" "BsaWI-" "" "somatic mosaicism father (17%)" "Germline" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408131" "11" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Odgerel 2010:20605452}" "BsaWI-" "" "somatic mosaicism father (17%)" "Germline" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408132" "0" "90" "10" "121431885" "121431885" "subst" "0" "00464" "BAG3_000001" "g.121431885C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408133" "1" "90" "10" "121431885" "121431885" "subst" "0" "00464" "BAG3_000001" "g.121431885C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408134" "0" "90" "10" "121431885" "121431885" "subst" "0" "00464" "BAG3_000001" "g.121431885C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.119672373C>T" "" "pathogenic" ""
"0000408135" "0" "90" "10" "121431911" "121431911" "subst" "7.72182E-5" "00509" "BAG3_000009" "g.121431911C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119672399C>T" "" "pathogenic" ""
"0000408136" "20" "90" "10" "121436451" "121436451" "subst" "0" "00509" "BAG3_000010" "g.121436451T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119676939T>C" "" "pathogenic" ""
"0000408137" "0" "90" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "" "{PMID:Selcen 2009:19085932}, {OMIM603883:0001}" "" "" "pCMV-Tag2 expression cloning COS-7 cells BAG3 predominantly small, discrete granules, few cells other profiles" "In vitro (cloned)" "" "" "0" "" "" "g.119672373C>T" "" "NA" ""
"0000408138" "0" "50" "10" "121429394" "121429394" "subst" "0.0200592" "00006" "BAG3_000003" "g.121429394G>A" "" "" "" "" "" "Germline" "" "rs35434411" "0" "" "" "g.119669882G>A" "" "VUS" ""
"0000408139" "0" "50" "10" "121429633" "121429633" "subst" "0.174285" "00006" "BAG3_000004" "g.121429633T>C" "" "" "" "" "" "Germline" "" "rs2234962" "0" "" "" "g.119670121T>C" "" "VUS" ""
"0000408140" "0" "50" "10" "121436068" "121436068" "subst" "0.117156" "00006" "BAG3_000005" "g.121436068T>G" "" "" "" "" "" "Germline" "" "rs3858339" "0" "" "" "g.119676556T>G" "" "VUS" ""
"0000408141" "0" "50" "10" "121436280" "121436280" "subst" "9.34321E-5" "00006" "BAG3_000006" "g.121436280C>T" "" "" "" "" "" "Germline" "" "rs11199064" "0" "" "" "g.119676768C>T" "" "VUS" ""
"0000408142" "0" "50" "10" "121436286" "121436286" "subst" "0.116903" "00006" "BAG3_000002" "g.121436286C>T" "" "" "" "" "not in 400 control chromosomes" "Germline" "" "rs3858340" "0" "" "" "g.119676774C>T" "" "VUS" ""
"0000408143" "0" "50" "10" "121436362" "121436362" "subst" "0.738374" "00006" "BAG3_000007" "g.121436362A>G" "" "" "" "" "" "Germline" "" "rs196295" "0" "" "" "g.119676850A>G" "" "VUS" ""
"0000408144" "0" "50" "10" "121437012" "121437012" "subst" "0" "00006" "BAG3_000008" "g.121437012G>C" "" "" "" "" "" "Germline" "" "rs8946" "0" "" "" "g.119677500G>C" "" "VUS" ""
"0000438827" "0" "50" "10" "121429412" "121429412" "subst" "0.000288414" "01164" "BAG3_000055" "g.121429412C>T" "" "" "" "" "patient has a likely pathogenic variant in MYOT" "Germline" "" "rs141355480" "0" "" "" "g.119669900C>T" "" "VUS" "ACMG"
"0000539265" "0" "30" "10" "121410917" "121410917" "subst" "0" "02327" "BAG3_000094" "g.121410917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651405C>T" "" "likely benign" ""
"0000539266" "0" "30" "10" "121411093" "121411093" "subst" "0" "02327" "BAG3_000095" "g.121411093G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651581G>A" "" "likely benign" ""
"0000539267" "0" "30" "10" "121411102" "121411102" "subst" "0" "02327" "BAG3_000096" "g.121411102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651590G>A" "" "likely benign" ""
"0000539268" "0" "30" "10" "121411161" "121411161" "subst" "0" "02327" "BAG3_000097" "g.121411161G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651649G>T" "" "likely benign" ""
"0000539269" "0" "10" "10" "121411171" "121411171" "subst" "0.00257057" "02327" "BAG3_000025" "g.121411171G>A" "" "" "" "BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651659G>A" "" "benign" ""
"0000539270" "0" "30" "10" "121411221" "121411221" "subst" "2.63253E-5" "02327" "BAG3_000098" "g.121411221G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651709G>A" "" "likely benign" ""
"0000539271" "0" "90" "10" "121411259" "121411259" "del" "0" "02330" "BAG3_000099" "g.121411259del" "" "" "" "BAG3(NM_004281.4):c.72delC (p.G25Dfs*186)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651747del" "" "pathogenic" ""
"0000539272" "0" "90" "10" "121411259" "121411259" "del" "0" "02325" "BAG3_000099" "g.121411259del" "" "" "" "BAG3(NM_004281.4):c.72delC (p.G25Dfs*186)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651747del" "" "pathogenic" ""
"0000539274" "0" "50" "10" "121411359" "121411359" "subst" "0" "02327" "BAG3_000101" "g.121411359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651847G>A" "" "VUS" ""
"0000539275" "0" "50" "10" "121411370" "121411370" "subst" "0" "02326" "BAG3_000102" "g.121411370G>A" "" "" "" "BAG3(NM_004281.3):c.180+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651858G>A" "" "VUS" ""
"0000539279" "0" "10" "10" "121429354" "121429354" "subst" "0.000740729" "02327" "BAG3_000053" "g.121429354T>A" "" "" "" "BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669842T>A" "" "benign" ""
"0000539280" "0" "10" "10" "121429369" "121429369" "subst" "0.00131709" "02327" "BAG3_000021" "g.121429369C>G" "" "" "" "BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669857C>G" "" "benign" ""
"0000539281" "0" "10" "10" "121429369" "121429369" "subst" "0.00131709" "02326" "BAG3_000021" "g.121429369C>G" "" "" "" "BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669857C>G" "" "benign" ""
"0000539282" "0" "10" "10" "121429394" "121429394" "subst" "0.0200592" "02330" "BAG3_000003" "g.121429394G>A" "" "" "" "BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669882G>A" "" "benign" ""
"0000539283" "0" "30" "10" "121429394" "121429394" "subst" "0.0200592" "01804" "BAG3_000003" "g.121429394G>A" "" "" "" "BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669882G>A" "" "likely benign" ""
"0000539284" "0" "50" "10" "121429394" "121429394" "subst" "0.000162554" "02330" "BAG3_000103" "g.121429394G>T" "" "" "" "BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669882G>T" "" "VUS" ""
"0000539285" "0" "30" "10" "121429394" "121429394" "subst" "0.000162554" "01943" "BAG3_000103" "g.121429394G>T" "" "" "" "BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669882G>T" "" "likely benign" ""
"0000539286" "0" "30" "10" "121429413" "121429413" "subst" "0.00112927" "02327" "BAG3_000056" "g.121429413G>A" "" "" "" "BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669901G>A" "" "likely benign" ""
"0000539287" "0" "10" "10" "121429431" "121429431" "subst" "0.000747238" "01943" "BAG3_000057" "g.121429431C>A" "" "" "" "BAG3(NM_004281.3):c.249C>A (p.H83Q), BAG3(NM_004281.4):c.249C>A (p.H83Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669919C>A" "" "benign" ""
"0000539288" "0" "30" "10" "121429462" "121429462" "subst" "0.00065377" "02330" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "likely benign" ""
"0000539289" "0" "50" "10" "121429462" "121429462" "subst" "0.00065377" "01943" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "VUS" ""
"0000539290" "0" "30" "10" "121429462" "121429462" "subst" "0.00065377" "01804" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "likely benign" ""
"0000539291" "0" "30" "10" "121429462" "121429462" "subst" "0.00065377" "02327" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "likely benign" ""
"0000539292" "0" "30" "10" "121429462" "121429462" "subst" "0.00065377" "02325" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "likely benign" ""
"0000539293" "0" "30" "10" "121429462" "121429462" "subst" "0.00065377" "02326" "BAG3_000104" "g.121429462A>T" "" "" "" "BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669950A>T" "" "likely benign" ""
"0000539294" "0" "50" "10" "121429525" "121429525" "subst" "1.62442E-5" "02330" "BAG3_000105" "g.121429525C>T" "" "" "" "BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670013C>T" "" "VUS" ""
"0000539296" "0" "30" "10" "121429525" "121429525" "subst" "1.62442E-5" "02325" "BAG3_000105" "g.121429525C>T" "" "" "" "BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670013C>T" "" "likely benign" ""
"0000539297" "0" "30" "10" "121429525" "121429525" "subst" "1.62442E-5" "02326" "BAG3_000105" "g.121429525C>T" "" "" "" "BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670013C>T" "" "likely benign" ""
"0000539298" "0" "50" "10" "121429582" "121429582" "subst" "0.000121932" "02330" "BAG3_000106" "g.121429582T>A" "" "" "" "BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670070T>A" "" "VUS" ""
"0000539299" "0" "30" "10" "121429582" "121429582" "subst" "0.000121932" "02327" "BAG3_000106" "g.121429582T>A" "" "" "" "BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670070T>A" "" "likely benign" ""
"0000539300" "0" "30" "10" "121429582" "121429582" "subst" "0.000121932" "02326" "BAG3_000106" "g.121429582T>A" "" "" "" "BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670070T>A" "" "likely benign" ""
"0000539301" "0" "30" "10" "121429600" "121429600" "subst" "1.22062E-5" "01943" "BAG3_000107" "g.121429600G>A" "" "" "" "BAG3(NM_004281.3):c.418G>A (p.G140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670088G>A" "" "likely benign" ""
"0000539302" "0" "10" "10" "121429633" "121429633" "subst" "0.174285" "02330" "BAG3_000004" "g.121429633T>C" "" "" "" "BAG3(NM_004281.4):c.451T>C (p.C151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670121T>C" "" "benign" ""
"0000539303" "0" "10" "10" "121429633" "121429633" "subst" "0.174285" "02325" "BAG3_000004" "g.121429633T>C" "" "" "" "BAG3(NM_004281.4):c.451T>C (p.C151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670121T>C" "" "benign" ""
"0000539304" "0" "50" "10" "121429634" "121429634" "subst" "2.86247E-5" "01943" "BAG3_000108" "g.121429634G>A" "" "" "" "BAG3(NM_004281.3):c.452G>A (p.C151Y), BAG3(NM_004281.4):c.452G>A (p.C151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670122G>A" "" "VUS" ""
"0000539305" "0" "30" "10" "121429637" "121429637" "subst" "0" "02327" "BAG3_000109" "g.121429637G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670125G>A" "" "likely benign" ""
"0000539306" "0" "10" "10" "121429645" "121429645" "subst" "0.00290568" "02330" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670133G>A" "" "benign" ""
"0000539307" "0" "50" "10" "121429645" "121429645" "subst" "0.00290568" "01943" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670133G>A" "" "VUS" ""
"0000539308" "0" "30" "10" "121429645" "121429645" "subst" "0.00290568" "02325" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670133G>A" "" "likely benign" ""
"0000539309" "0" "10" "10" "121429645" "121429645" "subst" "0.00290568" "02326" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670133G>A" "" "benign" ""
"0000539311" "0" "10" "10" "121429656" "121429657" "ins" "0" "01943" "BAG3_000112" "g.121429656_121429657insCGG" "" "" "" "BAG3(NM_004281.3):c.474_475insCGG (p.A158_A159insR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670144_119670145insCGG" "" "benign" ""
"0000539312" "0" "10" "10" "121429656" "121429658" "dup" "0" "02330" "BAG3_000113" "g.121429656_121429658dup" "" "" "" "BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup), BAG3(NM_004281.4):c.474_476dupGGC (p.A160dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670144_119670146dup" "" "benign" ""
"0000539313" "0" "50" "10" "121429656" "121429658" "dup" "0" "01943" "BAG3_000113" "g.121429656_121429658dup" "" "" "" "BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup), BAG3(NM_004281.4):c.474_476dupGGC (p.A160dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670144_119670146dup" "" "VUS" ""
"0000539314" "0" "10" "10" "121429656" "121429658" "dup" "0" "02325" "BAG3_000113" "g.121429656_121429658dup" "" "" "" "BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup), BAG3(NM_004281.4):c.474_476dupGGC (p.A160dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670144_119670146dup" "" "benign" ""
"0000539317" "0" "30" "10" "121429665" "121429665" "subst" "0" "02326" "BAG3_000066" "g.121429665G>A" "" "" "" "BAG3(NM_004281.3):c.483G>A (p.Q161=), BAG3(NM_004281.4):c.483G>A (p.Q161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670153G>A" "" "likely benign" ""
"0000539318" "0" "50" "10" "121429669" "121429669" "subst" "1.25435E-5" "02326" "BAG3_000043" "g.121429669C>T" "" "" "" "BAG3(NM_004281.3):c.487C>T (p.P163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670157C>T" "" "VUS" ""
"0000539319" "0" "30" "10" "121429680" "121429680" "subst" "8.915E-5" "02327" "BAG3_000116" "g.121429680C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670168C>T" "" "likely benign" ""
"0000539322" "0" "30" "10" "121431768" "121431768" "subst" "7.44522E-5" "02327" "BAG3_000117" "g.121431768G>A" "" "" "" "BAG3(NM_004281.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672256G>A" "" "likely benign" ""
"0000539323" "0" "30" "10" "121431787" "121431787" "subst" "0" "02327" "BAG3_000068" "g.121431787C>T" "" "" "" "BAG3(NM_004281.4):c.528C>T (p.A176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672275C>T" "" "likely benign" ""
"0000539324" "0" "30" "10" "121431832" "121431832" "subst" "2.45369E-5" "02327" "BAG3_000118" "g.121431832C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672320C>T" "" "likely benign" ""
"0000539325" "0" "10" "10" "121431865" "121431865" "subst" "0.00108347" "02327" "BAG3_000072" "g.121431865G>T" "" "" "" "BAG3(NM_004281.3):c.606G>T (p.P202=), BAG3(NM_004281.4):c.606G>T (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672353G>T" "" "benign" ""
"0000539326" "0" "90" "10" "121431866" "121431867" "del" "0" "02325" "BAG3_000119" "g.121431866_121431867del" "" "" "" "BAG3(NM_004281.4):c.607_608delCG (p.R203Gfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672354_119672355del" "" "pathogenic" ""
"0000539327" "0" "30" "10" "121431875" "121431875" "subst" "2.44039E-5" "02327" "BAG3_000120" "g.121431875A>C" "" "" "" "BAG3(NM_004281.4):c.616A>C (p.I206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672363A>C" "" "likely benign" ""
"0000539328" "0" "30" "10" "121431912" "121431912" "subst" "0.00026821" "02330" "BAG3_000121" "g.121431912G>A" "" "" "" "BAG3(NM_004281.3):c.653G>A (p.R218Q), BAG3(NM_004281.4):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672400G>A" "" "likely benign" ""
"0000539329" "0" "30" "10" "121431912" "121431912" "subst" "0.00026821" "01943" "BAG3_000121" "g.121431912G>A" "" "" "" "BAG3(NM_004281.3):c.653G>A (p.R218Q), BAG3(NM_004281.4):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672400G>A" "" "likely benign" ""
"0000539330" "0" "30" "10" "121431912" "121431912" "subst" "0.00026821" "02325" "BAG3_000121" "g.121431912G>A" "" "" "" "BAG3(NM_004281.3):c.653G>A (p.R218Q), BAG3(NM_004281.4):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672400G>A" "" "likely benign" ""
"0000539331" "0" "50" "10" "121431912" "121431912" "subst" "0.00026821" "02326" "BAG3_000121" "g.121431912G>A" "" "" "" "BAG3(NM_004281.3):c.653G>A (p.R218Q), BAG3(NM_004281.4):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672400G>A" "" "VUS" ""
"0000539332" "0" "30" "10" "121431928" "121431928" "subst" "4.06316E-6" "02327" "BAG3_000122" "g.121431928C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672416C>T" "" "likely benign" ""
"0000539333" "0" "10" "10" "121431952" "121431952" "subst" "8.12783E-5" "02330" "BAG3_000074" "g.121431952G>A" "" "" "" "BAG3(NM_004281.3):c.693G>A (p.T231=), BAG3(NM_004281.4):c.693G>A (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672440G>A" "" "benign" ""
"0000539334" "0" "30" "10" "121432030" "121432030" "subst" "0.000154844" "02327" "BAG3_000027" "g.121432030C>T" "" "" "" "BAG3(NM_004281.3):c.771C>T (p.P257=), BAG3(NM_004281.4):c.771C>T (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672518C>T" "" "likely benign" ""
"0000539335" "0" "30" "10" "121432030" "121432030" "subst" "0.000154844" "02326" "BAG3_000027" "g.121432030C>T" "" "" "" "BAG3(NM_004281.3):c.771C>T (p.P257=), BAG3(NM_004281.4):c.771C>T (p.P257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672518C>T" "" "likely benign" ""
"0000539336" "0" "10" "10" "121432031" "121432031" "subst" "0.00112913" "02330" "BAG3_000123" "g.121432031C>T" "" "" "" "BAG3(NM_004281.4):c.772C>T (p.R258W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672519C>T" "" "benign" ""
"0000539337" "0" "30" "10" "121432044" "121432044" "subst" "4.89544E-5" "02327" "BAG3_000028" "g.121432044C>T" "" "" "" "BAG3(NM_004281.3):c.785C>T (p.A262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672532C>T" "" "likely benign" ""
"0000539338" "0" "30" "10" "121432080" "121432080" "subst" "0.000138755" "02327" "BAG3_000029" "g.121432080C>T" "" "" "" "BAG3(NM_004281.3):c.821C>T (p.S274L), BAG3(NM_004281.4):c.821C>T (p.S274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672568C>T" "" "likely benign" ""
"0000539339" "0" "50" "10" "121432085" "121432085" "subst" "2.8556E-5" "02330" "BAG3_000124" "g.121432085C>T" "" "" "" "BAG3(NM_004281.4):c.826C>T (p.R276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672573C>T" "" "VUS" ""
"0000539340" "0" "10" "10" "121432096" "121432096" "subst" "0" "02327" "BAG3_000125" "g.121432096A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672584A>C" "" "benign" ""
"0000539341" "0" "30" "10" "121432113" "121432113" "subst" "3.66324E-5" "02327" "BAG3_000126" "g.121432113C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672601C>T" "" "likely benign" ""
"0000539342" "0" "10" "10" "121432114" "121432114" "subst" "0.000398873" "02330" "BAG3_000031" "g.121432114G>A" "" "" "" "BAG3(NM_004281.3):c.855G>A (p.T285=), BAG3(NM_004281.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672602G>A" "" "benign" ""
"0000539343" "0" "10" "10" "121432114" "121432114" "subst" "0.000398873" "02327" "BAG3_000031" "g.121432114G>A" "" "" "" "BAG3(NM_004281.3):c.855G>A (p.T285=), BAG3(NM_004281.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672602G>A" "" "benign" ""
"0000539344" "0" "10" "10" "121432157" "121432157" "subst" "0.000861928" "02330" "BAG3_000127" "g.121432157G>A" "" "" "" "BAG3(NM_004281.3):c.898G>A (p.D300N), BAG3(NM_004281.4):c.898G>A (p.D300N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672645G>A" "" "benign" ""
"0000539345" "0" "30" "10" "121432157" "121432157" "subst" "0.000861928" "01943" "BAG3_000127" "g.121432157G>A" "" "" "" "BAG3(NM_004281.3):c.898G>A (p.D300N), BAG3(NM_004281.4):c.898G>A (p.D300N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672645G>A" "" "likely benign" ""
"0000539346" "0" "30" "10" "121432157" "121432157" "subst" "0.000861928" "02327" "BAG3_000127" "g.121432157G>A" "" "" "" "BAG3(NM_004281.3):c.898G>A (p.D300N), BAG3(NM_004281.4):c.898G>A (p.D300N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672645G>A" "" "likely benign" ""
"0000539347" "0" "30" "10" "121432208" "121432208" "subst" "0.00505793" "02327" "BAG3_000128" "g.121432208A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672696A>G" "" "likely benign" ""
"0000539348" "0" "10" "10" "121435955" "121435955" "subst" "0.673755" "02327" "BAG3_000075" "g.121435955A>C" "" "" "" "BAG3(NM_004281.3):c.910-21A>C, BAG3(NM_004281.4):c.910-21A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676443A>C" "" "benign" ""
"0000539349" "0" "90" "10" "121435976" "121435976" "subst" "0" "02327" "BAG3_000129" "g.121435976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676464C>T" "" "pathogenic" ""
"0000539350" "0" "50" "10" "121435981" "121435981" "dup" "0" "02326" "BAG3_000130" "g.121435981dup" "" "" "" "BAG3(NM_004281.3):c.915dupC (p.M306Hfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676469dup" "" "VUS" ""
"0000539351" "0" "30" "10" "121435987" "121435987" "subst" "0" "02327" "BAG3_000131" "g.121435987C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676475C>G" "" "likely benign" ""
"0000539352" "0" "50" "10" "121436156" "121436156" "subst" "0" "02330" "BAG3_000132" "g.121436156G>A" "" "" "" "BAG3(NM_004281.4):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676644G>A" "" "VUS" ""
"0000539353" "0" "50" "10" "121436169" "121436169" "subst" "4.06091E-6" "02326" "BAG3_000133" "g.121436169C>T" "" "" "" "BAG3(NM_004281.3):c.1103C>T (p.P368L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676657C>T" "" "VUS" ""
"0000539354" "0" "50" "10" "121436192" "121436192" "subst" "4.06105E-6" "01943" "BAG3_000083" "g.121436192C>T" "" "" "" "BAG3(NM_004281.3):c.1126C>T (p.P376S), BAG3(NM_004281.4):c.1126C>T (p.P376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676680C>T" "" "VUS" ""
"0000539355" "0" "10" "10" "121436204" "121436204" "subst" "0.00122243" "02327" "BAG3_000020" "g.121436204C>T" "" "" "" "BAG3(NM_004281.3):c.1138C>T (p.P380S), BAG3(NM_004281.4):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676692C>T" "" "benign" ""
"0000539356" "0" "10" "10" "121436204" "121436204" "subst" "0.00122243" "02326" "BAG3_000020" "g.121436204C>T" "" "" "" "BAG3(NM_004281.3):c.1138C>T (p.P380S), BAG3(NM_004281.4):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676692C>T" "" "benign" ""
"0000539357" "0" "30" "10" "121436217" "121436217" "subst" "4.06151E-6" "02327" "BAG3_000134" "g.121436217C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676705C>T" "" "likely benign" ""
"0000539358" "0" "10" "10" "121436286" "121436286" "subst" "0.116903" "02330" "BAG3_000002" "g.121436286C>T" "" "" "" "BAG3(NM_004281.4):c.1220C>T (p.P407L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676774C>T" "" "benign" ""
"0000539359" "0" "30" "10" "121436298" "121436300" "del" "0" "01943" "BAG3_000084" "g.121436298_121436300del" "" "" "" "BAG3(NM_004281.3):c.1232_1234delGAG (p.G411del), BAG3(NM_004281.4):c.1232_1234delGAG (p.G411del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676786_119676788del" "" "likely benign" ""
"0000539360" "0" "30" "10" "121436306" "121436306" "subst" "0.000333149" "02325" "BAG3_000135" "g.121436306G>A" "" "" "" "BAG3(NM_004281.3):c.1240G>A (p.E414K), BAG3(NM_004281.4):c.1240G>A (p.E414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676794G>A" "" "likely benign" ""
"0000539361" "0" "30" "10" "121436306" "121436306" "subst" "0.000333149" "02326" "BAG3_000135" "g.121436306G>A" "" "" "" "BAG3(NM_004281.3):c.1240G>A (p.E414K), BAG3(NM_004281.4):c.1240G>A (p.E414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676794G>A" "" "likely benign" ""
"0000539363" "0" "50" "10" "121436387" "121436387" "subst" "6.09182E-5" "01943" "BAG3_000137" "g.121436387A>G" "" "" "" "BAG3(NM_004281.3):c.1321A>G (p.N441D), BAG3(NM_004281.4):c.1321A>G (p.N441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676875A>G" "" "VUS" ""
"0000539364" "0" "30" "10" "121436387" "121436387" "subst" "6.09182E-5" "02326" "BAG3_000137" "g.121436387A>G" "" "" "" "BAG3(NM_004281.3):c.1321A>G (p.N441D), BAG3(NM_004281.4):c.1321A>G (p.N441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676875A>G" "" "likely benign" ""
"0000539365" "0" "50" "10" "121436495" "121436495" "subst" "8.12189E-6" "01943" "BAG3_000138" "g.121436495C>T" "" "" "" "BAG3(NM_004281.3):c.1429C>T (p.R477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676983C>T" "" "VUS" ""
"0000539366" "0" "10" "10" "121436502" "121436502" "subst" "0.000219282" "02330" "BAG3_000139" "g.121436502C>T" "" "" "" "BAG3(NM_004281.3):c.1436C>T (p.A479V), BAG3(NM_004281.4):c.1436C>T (p.A479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676990C>T" "" "benign" ""
"0000539367" "0" "70" "10" "121436631" "121436631" "del" "0" "02325" "BAG3_000140" "g.121436631del" "" "" "" "BAG3(NM_004281.4):c.1565delA (p.Q522Rfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677119del" "" "likely pathogenic" ""
"0000539368" "0" "50" "10" "121436700" "121436700" "subst" "9.753E-5" "02330" "BAG3_000141" "g.121436700C>G" "" "" "" "BAG3(NM_004281.4):c.1634C>G (p.P545R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677188C>G" "" "VUS" ""
"0000539369" "0" "30" "10" "121436717" "121436717" "subst" "0" "01943" "BAG3_000142" "g.121436717C>A" "" "" "" "BAG3(NM_004281.3):c.1651C>A (p.Q551K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677205C>A" "" "likely benign" ""
"0000539370" "0" "30" "10" "121436717" "121436717" "subst" "0" "02327" "BAG3_000142" "g.121436717C>A" "" "" "" "BAG3(NM_004281.3):c.1651C>A (p.Q551K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677205C>A" "" "likely benign" ""
"0000539371" "0" "50" "10" "121436729" "121436732" "dup" "0" "02330" "BAG3_000143" "g.121436729_121436732dup" "" "" "" "BAG3(NM_004281.3):c.1663_1666dupACAG (p.A556Dfs*17), BAG3(NM_004281.4):c.1663_1666dupACAG (p.A556Dfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677217_119677220dup" "" "VUS" ""
"0000539372" "0" "10" "10" "121436807" "121436807" "subst" "0" "02330" "BAG3_000039" "g.121436807A>G" "" "" "" "BAG3(NM_004281.4):c.*13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677295A>G" "" "benign" ""
"0000612308" "0" "30" "10" "121411212" "121411212" "subst" "0.000358838" "02327" "BAG3_000048" "g.121411212A>G" "" "" "" "BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651700A>G" "" "likely benign" ""
"0000612309" "0" "30" "10" "121411283" "121411283" "subst" "0.000172182" "02327" "BAG3_000051" "g.121411283G>T" "" "" "" "BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651771G>T" "" "likely benign" ""
"0000612310" "0" "30" "10" "121411298" "121411298" "subst" "0" "02327" "BAG3_000144" "g.121411298C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119651786C>G" "" "likely benign" ""
"0000612312" "0" "70" "10" "121429427" "121429427" "dup" "0" "02326" "BAG3_000145" "g.121429427dup" "" "" "" "BAG3(NM_004281.3):c.245dupG (p.H83Pfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119669915dup" "" "likely pathogenic" ""
"0000612313" "0" "30" "10" "121429644" "121429646" "dup" "0" "02327" "BAG3_000146" "g.121429644_121429646dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670132_119670134dup" "" "likely benign" ""
"0000612314" "0" "10" "10" "121429645" "121429645" "subst" "0.00290568" "02327" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670133G>A" "" "benign" ""
"0000612315" "0" "50" "10" "121429656" "121429658" "dup" "0" "02327" "BAG3_000113" "g.121429656_121429658dup" "" "" "" "BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup), BAG3(NM_004281.4):c.474_476dupGGC (p.A160dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670144_119670146dup" "" "VUS" ""
"0000612316" "0" "30" "10" "121429665" "121429665" "subst" "0" "02327" "BAG3_000066" "g.121429665G>A" "" "" "" "BAG3(NM_004281.3):c.483G>A (p.Q161=), BAG3(NM_004281.4):c.483G>A (p.Q161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119670153G>A" "" "likely benign" ""
"0000612318" "0" "10" "10" "121431808" "121431808" "subst" "0.00117992" "02327" "BAG3_000070" "g.121431808C>G" "" "" "" "BAG3(NM_004281.3):c.549C>G (p.S183=), BAG3(NM_004281.4):c.549C>G (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672296C>G" "" "benign" ""
"0000612319" "0" "30" "10" "121431847" "121431847" "subst" "0" "01943" "BAG3_000147" "g.121431847G>A" "" "" "" "BAG3(NM_004281.3):c.588G>A (p.L196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672335G>A" "" "likely benign" ""
"0000612320" "0" "30" "10" "121431886" "121431886" "subst" "2.84645E-5" "02327" "BAG3_000148" "g.121431886G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672374G>A" "" "likely benign" ""
"0000612321" "0" "30" "10" "121431904" "121431904" "subst" "0.000134121" "02327" "BAG3_000149" "g.121431904C>T" "" "" "" "BAG3(NM_004281.4):c.645C>T (p.N215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672392C>T" "" "likely benign" ""
"0000612322" "0" "30" "10" "121431912" "121431912" "subst" "0.00026821" "02327" "BAG3_000121" "g.121431912G>A" "" "" "" "BAG3(NM_004281.3):c.653G>A (p.R218Q), BAG3(NM_004281.4):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672400G>A" "" "likely benign" ""
"0000612323" "0" "30" "10" "121432031" "121432031" "subst" "0.00112913" "02327" "BAG3_000123" "g.121432031C>T" "" "" "" "BAG3(NM_004281.4):c.772C>T (p.R258W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672519C>T" "" "likely benign" ""
"0000612324" "0" "10" "10" "121432173" "121432173" "subst" "0" "02330" "BAG3_000151" "g.121432173G>A" "" "" "" "BAG3(NM_004281.4):c.909+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672661G>A" "" "benign" ""
"0000612326" "0" "30" "10" "121436095" "121436095" "subst" "0.000207105" "02327" "BAG3_000080" "g.121436095C>A" "" "" "" "BAG3(NM_004281.3):c.1029C>A (p.R343=), BAG3(NM_004281.4):c.1029C>A (p.R343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676583C>A" "" "likely benign" ""
"0000612327" "0" "30" "10" "121436306" "121436306" "subst" "0.000333149" "02327" "BAG3_000135" "g.121436306G>A" "" "" "" "BAG3(NM_004281.3):c.1240G>A (p.E414K), BAG3(NM_004281.4):c.1240G>A (p.E414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676794G>A" "" "likely benign" ""
"0000612329" "0" "30" "10" "121436330" "121436330" "subst" "4.06223E-6" "02327" "BAG3_000153" "g.121436330G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676818G>C" "" "likely benign" ""
"0000612330" "0" "50" "10" "121436424" "121436424" "subst" "0" "02330" "BAG3_000154" "g.121436424T>A" "" "" "" "BAG3(NM_004281.4):c.1358T>A (p.M453K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676912T>A" "" "VUS" ""
"0000612331" "0" "30" "10" "121436562" "121436562" "subst" "4.06078E-6" "02327" "BAG3_000087" "g.121436562T>C" "" "" "" "BAG3(NM_004281.3):c.1496T>C (p.I499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677050T>C" "" "likely benign" ""
"0000612332" "0" "30" "10" "121436691" "121436691" "subst" "4.87615E-5" "02327" "BAG3_000092" "g.121436691C>T" "" "" "" "BAG3(NM_004281.3):c.1625C>T (p.A542V, p.(Ala542Val)), BAG3(NM_004281.4):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677179C>T" "" "likely benign" ""
"0000612333" "0" "50" "10" "121436729" "121436732" "dup" "0" "01943" "BAG3_000143" "g.121436729_121436732dup" "" "" "" "BAG3(NM_004281.3):c.1663_1666dupACAG (p.A556Dfs*17), BAG3(NM_004281.4):c.1663_1666dupACAG (p.A556Dfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677217_119677220dup" "" "VUS" ""
"0000612334" "0" "30" "10" "121436740" "121436740" "subst" "3.65723E-5" "02327" "BAG3_000156" "g.121436740G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677228G>A" "" "likely benign" ""
"0000612335" "0" "50" "10" "121436766" "121436766" "subst" "0" "02325" "BAG3_000157" "g.121436766A>G" "" "" "" "BAG3(NM_004281.4):c.1700A>G (p.D567G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677254A>G" "" "VUS" ""
"0000612336" "0" "30" "10" "121436768" "121436768" "subst" "8.13087E-6" "02327" "BAG3_000158" "g.121436768A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677256A>G" "" "likely benign" ""
"0000622342" "0" "50" "10" "121431875" "121431875" "subst" "2.44039E-5" "02330" "BAG3_000120" "g.121431875A>C" "" "" "" "BAG3(NM_004281.4):c.616A>C (p.I206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672363A>C" "" "VUS" ""
"0000622343" "0" "30" "10" "121432044" "121432044" "subst" "4.89544E-5" "02326" "BAG3_000028" "g.121432044C>T" "" "" "" "BAG3(NM_004281.3):c.785C>T (p.A262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672532C>T" "" "likely benign" ""
"0000622344" "0" "50" "10" "121432131" "121432131" "subst" "6.10376E-5" "02330" "BAG3_000150" "g.121432131C>T" "" "" "" "BAG3(NM_004281.4):c.872C>T (p.S291L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672619C>T" "" "VUS" ""
"0000622345" "0" "90" "10" "121436323" "121436323" "dup" "0" "02330" "BAG3_000152" "g.121436323dup" "" "" "" "BAG3(NM_004281.4):c.1257dupT (p.P420Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676811dup" "" "pathogenic" ""
"0000622346" "0" "90" "10" "121436495" "121436495" "subst" "8.12189E-6" "02326" "BAG3_000138" "g.121436495C>T" "" "" "" "BAG3(NM_004281.3):c.1429C>T (p.R477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676983C>T" "" "pathogenic" ""
"0000622347" "0" "50" "10" "121436589" "121436589" "subst" "2.43653E-5" "02330" "BAG3_000155" "g.121436589A>G" "" "" "" "BAG3(NM_004281.4):c.1523A>G (p.Y508C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119677077A>G" "" "VUS" ""
"0000647851" "1" "50" "10" "121431911" "121431911" "subst" "7.72182E-5" "03575" "BAG3_000009" "g.121431911C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs397514506}" "Germline" "" "rs397514506" "0" "" "" "g.119672399C>T" "" "VUS" ""
"0000652972" "1" "30" "10" "121429394" "121429394" "subst" "0.0200592" "03575" "BAG3_000003" "g.121429394G>A" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs35434411}" "Germline" "" "rs35434411" "0" "" "" "g.119669882G>A" "" "likely benign" ""
"0000656430" "0" "50" "10" "121431813" "121431813" "subst" "5.73564E-5" "02330" "BAG3_000019" "g.121431813C>T" "" "" "" "BAG3(NM_004281.4):c.554C>T (p.S185L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672301C>T" "" "VUS" ""
"0000656431" "0" "30" "10" "121432087" "121432087" "subst" "5.29829E-5" "02326" "BAG3_000030" "g.121432087G>A" "" "" "" "BAG3(NM_004281.3):c.828G>A (p.R276=), BAG3(NM_004281.4):c.828G>A (p.R276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672575G>A" "" "likely benign" ""
"0000656432" "0" "30" "10" "121432151" "121432151" "subst" "8.56723E-5" "02326" "BAG3_000034" "g.121432151G>A" "" "" "" "BAG3(NM_004281.3):c.892G>A (p.V298M), BAG3(NM_004281.4):c.892G>A (p.V298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119672639G>A" "" "likely benign" ""
"0000656433" "0" "50" "10" "121436023" "121436023" "subst" "8.1217E-6" "02325" "BAG3_000077" "g.121436023C>G" "" "" "" "BAG3(NM_004281.3):c.957C>G (p.N319K), BAG3(NM_004281.4):c.957C>G (p.N319K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676511C>G" "" "VUS" ""
"0000656434" "0" "50" "10" "121436387" "121436387" "subst" "6.09182E-5" "02330" "BAG3_000137" "g.121436387A>G" "" "" "" "BAG3(NM_004281.3):c.1321A>G (p.N441D), BAG3(NM_004281.4):c.1321A>G (p.N441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676875A>G" "" "VUS" ""
"0000656435" "0" "50" "10" "121436496" "121436496" "subst" "0" "01943" "BAG3_000011" "g.121436496G>A" "" "" "" "BAG3(NM_004281.3):c.1430G>A (p.R477H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676984G>A" "" "VUS" ""
"0000656436" "0" "30" "10" "121436502" "121436502" "subst" "0.000219282" "01943" "BAG3_000139" "g.121436502C>T" "" "" "" "BAG3(NM_004281.3):c.1436C>T (p.A479V), BAG3(NM_004281.4):c.1436C>T (p.A479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119676990C>T" "" "likely benign" ""
"0000660257" "0" "50" "10" "121436630" "121436630" "subst" "0" "01164" "BAG3_000159" "g.121436630C>T" "" "" "" "" "ACMG grading: PM2; located in extreme 3´end of gene; p.R473* last stop-gain variant in ClinVar/ HGMD" "Germline" "" "" "0" "" "" "g.119677118C>T" "" "VUS" "ACMG"
"0000678786" "0" "30" "10" "121429351" "121429351" "subst" "0" "02327" "BAG3_000160" "g.121429351T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678788" "0" "30" "10" "121432110" "121432110" "subst" "0" "02326" "BAG3_000161" "g.121432110G>T" "" "" "" "BAG3(NM_004281.3):c.851G>T (p.S284I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678789" "0" "30" "10" "121436569" "121436569" "subst" "0.000227406" "02327" "BAG3_000088" "g.121436569C>A" "" "" "" "BAG3(NM_004281.3):c.1503C>A (p.V501=), BAG3(NM_004281.4):c.1503C>A (p.V501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690653" "0" "50" "10" "121431796" "121431796" "subst" "0" "01943" "BAG3_000162" "g.121431796C>G" "" "" "" "BAG3(NM_004281.3):c.537C>G (p.C179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000690654" "0" "50" "10" "121432151" "121432151" "subst" "8.56723E-5" "02330" "BAG3_000034" "g.121432151G>A" "" "" "" "BAG3(NM_004281.3):c.892G>A (p.V298M), BAG3(NM_004281.4):c.892G>A (p.V298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000694122" "0" "90" "10" "121429438" "121429438" "dup" "0" "01741" "BAG3_000163" "g.121429438dup" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" ""
"0000697326" "0" "70" "10" "121431885" "121431885" "subst" "0" "00006" "BAG3_000001" "g.121431885C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119672373C>T" "" "likely pathogenic" ""
"0000701769" "0" "90" "10" "121436012" "121436012" "subst" "0" "00006" "BAG3_000164" "g.121436012C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000722702" "0" "30" "10" "121411212" "121411212" "subst" "0.000358838" "02326" "BAG3_000048" "g.121411212A>G" "" "" "" "BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722703" "0" "10" "10" "121411283" "121411283" "subst" "0.000172182" "02330" "BAG3_000051" "g.121411283G>T" "" "" "" "BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000722704" "0" "50" "10" "121429574" "121429574" "subst" "4.06266E-6" "01943" "BAG3_000165" "g.121429574C>T" "" "" "" "BAG3(NM_004281.3):c.392C>T (p.P131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722705" "0" "50" "10" "121429652" "121429652" "subst" "1.65814E-5" "02330" "BAG3_000166" "g.121429652C>T" "" "" "" "BAG3(NM_004281.4):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722706" "0" "10" "10" "121431808" "121431808" "subst" "0.00117992" "02330" "BAG3_000070" "g.121431808C>G" "" "" "" "BAG3(NM_004281.3):c.549C>G (p.S183=), BAG3(NM_004281.4):c.549C>G (p.S183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000722707" "0" "50" "10" "121431970" "121431970" "subst" "4.06527E-6" "02329" "BAG3_000167" "g.121431970G>C" "" "" "" "BAG3(NM_004281.4):c.711G>C (p.Q237H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722708" "0" "50" "10" "121432085" "121432085" "subst" "2.8556E-5" "02329" "BAG3_000124" "g.121432085C>T" "" "" "" "BAG3(NM_004281.4):c.826C>T (p.R276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722709" "0" "50" "10" "121432155" "121432155" "subst" "4.0826E-6" "02330" "BAG3_000168" "g.121432155T>A" "" "" "" "BAG3(NM_004281.4):c.896T>A (p.V299D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722710" "0" "50" "10" "121436054" "121436054" "subst" "1.21821E-5" "02330" "BAG3_000078" "g.121436054C>T" "" "" "" "BAG3(NM_004281.4):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722711" "0" "30" "10" "121436387" "121436387" "subst" "6.09182E-5" "02325" "BAG3_000137" "g.121436387A>G" "" "" "" "BAG3(NM_004281.3):c.1321A>G (p.N441D), BAG3(NM_004281.4):c.1321A>G (p.N441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722712" "0" "30" "10" "121436428" "121436428" "subst" "6.09191E-5" "01943" "BAG3_000169" "g.121436428C>T" "" "" "" "BAG3(NM_004281.3):c.1362C>T (p.I454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722713" "0" "70" "10" "121436484" "121436484" "dup" "0" "02330" "BAG3_000170" "g.121436484dup" "" "" "" "BAG3(NM_004281.4):c.1418dupG (p.A474Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000722714" "0" "50" "10" "121436729" "121436732" "dup" "0" "02329" "BAG3_000143" "g.121436729_121436732dup" "" "" "" "BAG3(NM_004281.3):c.1663_1666dupACAG (p.A556Dfs*17), BAG3(NM_004281.4):c.1663_1666dupACAG (p.A556Dfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000790003" "1" "90" "10" "121436040" "121436040" "del" "0" "00006" "BAG3_000171" "g.121436040del" "" "{PMID:Nguyen 2021:34011823}" "" "c.974delC" "ACMG PVS1 PM2 PM5 PP3 PP5; no genotypes reported" "Germline" "" "" "0" "" "" "g.119676528del" "" "pathogenic" ""
"0000804318" "0" "50" "10" "121432095" "121432095" "subst" "0" "02329" "BAG3_000172" "g.121432095C>T" "" "" "" "BAG3(NM_004281.4):c.836C>T (p.S279L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804319" "0" "50" "10" "121432155" "121432155" "subst" "4.0826E-6" "02325" "BAG3_000168" "g.121432155T>A" "" "" "" "BAG3(NM_004281.4):c.896T>A (p.V299D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804320" "0" "50" "10" "121436387" "121436387" "subst" "6.09182E-5" "02329" "BAG3_000137" "g.121436387A>G" "" "" "" "BAG3(NM_004281.3):c.1321A>G (p.N441D), BAG3(NM_004281.4):c.1321A>G (p.N441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804321" "0" "30" "10" "121436502" "121436502" "subst" "0.000219282" "02326" "BAG3_000139" "g.121436502C>T" "" "" "" "BAG3(NM_004281.3):c.1436C>T (p.A479V), BAG3(NM_004281.4):c.1436C>T (p.A479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000823990" "0" "50" "10" "121429597" "121429597" "subst" "0.000158711" "03501" "BAG3_000022" "g.121429597C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119670085C>T" "" "VUS" ""
"0000852416" "0" "30" "10" "121429394" "121429394" "subst" "0.000162554" "02327" "BAG3_000103" "g.121429394G>T" "" "" "" "BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000852417" "0" "50" "10" "121429634" "121429634" "subst" "2.86247E-5" "02326" "BAG3_000108" "g.121429634G>A" "" "" "" "BAG3(NM_004281.3):c.452G>A (p.C151Y), BAG3(NM_004281.4):c.452G>A (p.C151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852418" "0" "10" "10" "121429656" "121429658" "dup" "0" "02326" "BAG3_000113" "g.121429656_121429658dup" "" "" "" "BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup), BAG3(NM_004281.4):c.474_476dupGGC (p.A160dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000852419" "0" "50" "10" "121432053" "121432053" "subst" "4.07814E-6" "02329" "BAG3_000044" "g.121432053C>T" "" "" "" "BAG3(NM_004281.4):c.794C>T (p.P265L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852420" "0" "30" "10" "121432063" "121432063" "subst" "0" "02327" "BAG3_000173" "g.121432063A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000852421" "0" "50" "10" "121435974" "121435974" "subst" "0" "01943" "BAG3_000174" "g.121435974A>G" "" "" "" "BAG3(NM_004281.3):c.910-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852422" "0" "50" "10" "121436092" "121436092" "subst" "0" "02330" "BAG3_000176" "g.121436092C>G" "" "" "" "BAG3(NM_004281.4):c.1026C>G (p.I342M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852423" "0" "50" "10" "121436219" "121436219" "subst" "0" "02326" "BAG3_000177" "g.121436219T>C" "" "" "" "BAG3(NM_004281.3):c.1153T>C (p.S385P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861840" "0" "50" "10" "121436009" "121436009" "subst" "4.46701E-5" "01943" "BAG3_000175" "g.121436009T>A" "" "" "" "BAG3(NM_004281.3):c.943T>A (p.S315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861841" "0" "30" "10" "121436691" "121436691" "subst" "4.87615E-5" "01943" "BAG3_000092" "g.121436691C>T" "" "" "" "BAG3(NM_004281.3):c.1625C>T (p.A542V, p.(Ala542Val)), BAG3(NM_004281.4):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861842" "0" "30" "10" "121436691" "121436691" "subst" "4.87615E-5" "01804" "BAG3_000092" "g.121436691C>T" "" "" "" "BAG3(NM_004281.3):c.1625C>T (p.A542V, p.(Ala542Val)), BAG3(NM_004281.4):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000878905" "0" "70" "10" "121436790" "121436790" "subst" "1.22031E-5" "04384" "BAG3_000178" "g.121436790C>T" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" ""
"0000889026" "0" "30" "10" "121411239" "121411239" "subst" "0" "02326" "BAG3_000049" "g.121411239G>A" "" "" "" "BAG3(NM_004281.3):c.52G>A (p.D18N), BAG3(NM_004281.4):c.52G>A (p.D18N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889027" "0" "70" "10" "121411276" "121411276" "del" "0" "02326" "BAG3_000179" "g.121411276del" "" "" "" "BAG3(NM_004281.3):c.89delT (p.I30Tfs*181)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000889028" "0" "30" "10" "121411283" "121411283" "subst" "0.000172182" "02326" "BAG3_000051" "g.121411283G>T" "" "" "" "BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889029" "0" "50" "10" "121411342" "121411342" "subst" "0" "02325" "BAG3_000180" "g.121411342C>T" "" "" "" "BAG3(NM_004281.4):c.155C>T (p.P52L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889030" "0" "50" "10" "121411360" "121411360" "subst" "0" "02327" "BAG3_000181" "g.121411360G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889031" "0" "90" "10" "121411368" "121411368" "subst" "0" "02325" "BAG3_000052" "g.121411368G>A" "" "" "" "BAG3(NM_004281.3):c.180+1G>A, BAG3(NM_004281.4):c.180+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000889033" "0" "50" "10" "121429544" "121429544" "subst" "1.2184E-5" "02327" "BAG3_000182" "g.121429544G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889034" "0" "50" "10" "121429550" "121429550" "subst" "2.84308E-5" "02330" "BAG3_000183" "g.121429550G>A" "" "" "" "BAG3(NM_004281.4):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889035" "0" "30" "10" "121429563" "121429563" "subst" "7.71762E-5" "02327" "BAG3_000058" "g.121429563A>T" "" "" "" "BAG3(NM_004281.4):c.381A>T (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889036" "0" "50" "10" "121429634" "121429634" "subst" "2.86247E-5" "02330" "BAG3_000108" "g.121429634G>A" "" "" "" "BAG3(NM_004281.3):c.452G>A (p.C151Y), BAG3(NM_004281.4):c.452G>A (p.C151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889037" "0" "30" "10" "121431763" "121431763" "dup" "0" "02327" "BAG3_000184" "g.121431763dup" "" "" "" "BAG3(NM_004281.4):c.508-4dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889038" "0" "50" "10" "121431768" "121431768" "subst" "7.44522E-5" "02330" "BAG3_000117" "g.121431768G>A" "" "" "" "BAG3(NM_004281.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889039" "0" "90" "10" "121431849" "121431849" "del" "0" "02330" "BAG3_000185" "g.121431849del" "" "" "" "BAG3(NM_004281.4):c.590delG (p.G197Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000889040" "0" "10" "10" "121431904" "121431904" "subst" "0.000134121" "02330" "BAG3_000149" "g.121431904C>T" "" "" "" "BAG3(NM_004281.4):c.645C>T (p.N215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000889041" "0" "30" "10" "121431952" "121431952" "subst" "8.12783E-5" "02327" "BAG3_000074" "g.121431952G>A" "" "" "" "BAG3(NM_004281.3):c.693G>A (p.T231=), BAG3(NM_004281.4):c.693G>A (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889042" "0" "50" "10" "121436513" "121436513" "subst" "8.1217E-6" "02327" "BAG3_000186" "g.121436513G>A" "" "" "" "BAG3(NM_004281.3):c.1447G>A (p.G483S), BAG3(NM_004281.4):c.1447G>A (p.G483S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889043" "0" "30" "10" "121436653" "121436653" "subst" "0.000463064" "02326" "BAG3_000090" "g.121436653C>T" "" "" "" "BAG3(NM_004281.3):c.1587C>T (p.A529=), BAG3(NM_004281.4):c.1587C>T (p.A529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913235" "0" "50" "10" "121431875" "121431875" "subst" "2.44039E-5" "02325" "BAG3_000120" "g.121431875A>C" "" "" "" "BAG3(NM_004281.4):c.616A>C (p.I206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913236" "0" "90" "10" "121432037" "121432037" "dup" "0" "02326" "BAG3_000187" "g.121432037dup" "" "" "" "BAG3(NM_004281.3):c.778dupC (p.L260Pfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000913237" "0" "30" "10" "121436569" "121436569" "subst" "0.000227406" "02326" "BAG3_000088" "g.121436569C>A" "" "" "" "BAG3(NM_004281.3):c.1503C>A (p.V501=), BAG3(NM_004281.4):c.1503C>A (p.V501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925124" "0" "30" "10" "121431964" "121431964" "subst" "7.3163E-5" "02330" "BAG3_000188" "g.121431964G>A" "" "" "" "BAG3(NM_004281.4):c.705G>A (p.A235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925125" "0" "50" "10" "121436654" "121436654" "subst" "0.000125915" "02330" "BAG3_000091" "g.121436654G>A" "" "" "" "BAG3(NM_004281.3):c.1588G>A (p.V530M), BAG3(NM_004281.4):c.1588G>A (p.V530M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929647" "0" "10" "10" "121436800" "121436800" "subst" "0" "02330" "BAG3_000189" "g.121436800G>T" "" "" "" "BAG3(NM_004281.4):c.*6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000946081" "0" "50" "10" "121436408" "121436408" "subst" "0" "00006" "BAG3_000047" "g.121436408G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.119676896G>A" "" "VUS" ""
"0000949351" "0" "90" "10" "121429543" "121429543" "subst" "0" "02327" "BAG3_000190" "g.121429543C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949352" "0" "50" "10" "121429634" "121429634" "subst" "2.86247E-5" "02327" "BAG3_000108" "g.121429634G>A" "" "" "" "BAG3(NM_004281.3):c.452G>A (p.C151Y), BAG3(NM_004281.4):c.452G>A (p.C151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949353" "0" "70" "10" "121436493" "121436495" "del" "0" "02325" "BAG3_000191" "g.121436493_121436495del" "" "" "" "BAG3(NM_004281.4):c.1427_1429delTGC (p.V476_R477delinsG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949354" "0" "70" "10" "121436496" "121436497" "ins" "0" "02325" "BAG3_000192" "g.121436496_121436497insAT" "" "" "" "BAG3(NM_004281.4):c.1430_1431insAT (p.Q478Ffs*89)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000955066" "0" "70" "10" "121432000" "121432000" "subst" "0" "03779" "BAG3_000193" "g.121432000C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000957816" "0" "70" "10" "121436510" "121436511" "del" "0" "00006" "BAG3_000195" "g.121436510_121436511del" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119676998_119676999del" "" "likely pathogenic" ""
"0000957838" "0" "70" "10" "121411324" "121411324" "subst" "0" "00006" "BAG3_000194" "g.121411324C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119651812C>T" "" "likely pathogenic" ""
"0000957850" "0" "50" "10" "121429462" "121429462" "subst" "0.00065377" "00006" "BAG3_000104" "g.121429462A>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119669950A>T" "" "VUS" ""
"0000957873" "0" "50" "10" "121432151" "121432151" "subst" "8.56723E-5" "00006" "BAG3_000034" "g.121432151G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119672639G>A" "" "VUS" ""
"0000957876" "0" "50" "10" "121432151" "121432151" "subst" "8.56723E-5" "00006" "BAG3_000034" "g.121432151G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119672639G>A" "" "VUS" ""
"0000965608" "0" "90" "10" "121429549" "121429549" "subst" "8.12275E-6" "02327" "BAG3_000015" "g.121429549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000965609" "0" "50" "10" "121429600" "121429600" "subst" "1.22062E-5" "02326" "BAG3_000107" "g.121429600G>A" "" "" "" "BAG3(NM_004281.3):c.418G>A (p.G140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965613" "0" "50" "10" "121431869" "121431869" "subst" "4.06961E-6" "02330" "BAG3_000196" "g.121431869G>A" "" "" "" "BAG3(NM_004281.4):c.610G>A (p.G204R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965614" "0" "30" "10" "121431951" "121431951" "subst" "4.06339E-6" "02327" "BAG3_000197" "g.121431951C>T" "" "" "" "BAG3(NM_004281.4):c.692C>T (p.T231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000965615" "0" "50" "10" "121431951" "121431951" "subst" "4.06339E-6" "02329" "BAG3_000197" "g.121431951C>T" "" "" "" "BAG3(NM_004281.4):c.692C>T (p.T231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965617" "0" "50" "10" "121432040" "121432040" "subst" "3.26272E-5" "02330" "BAG3_000198" "g.121432040C>T" "" "" "" "BAG3(NM_004281.4):c.781C>T (p.R261W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965619" "0" "50" "10" "121436013" "121436013" "subst" "1.21824E-5" "02326" "BAG3_000199" "g.121436013A>G" "" "" "" "BAG3(NM_004281.3):c.947A>G (p.Q316R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965620" "0" "50" "10" "121436513" "121436513" "subst" "8.1217E-6" "02325" "BAG3_000186" "g.121436513G>A" "" "" "" "BAG3(NM_004281.3):c.1447G>A (p.G483S), BAG3(NM_004281.4):c.1447G>A (p.G483S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000965621" "0" "50" "10" "121436513" "121436513" "subst" "8.1217E-6" "02326" "BAG3_000186" "g.121436513G>A" "" "" "" "BAG3(NM_004281.3):c.1447G>A (p.G483S), BAG3(NM_004281.4):c.1447G>A (p.G483S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978912" "0" "30" "10" "121411184" "121411184" "subst" "9.05564E-5" "02330" "BAG3_000026" "g.121411184C>T" "" "" "" "BAG3(NM_004281.3):c.-4C>T, BAG3(NM_004281.4):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978914" "0" "30" "10" "121429413" "121429413" "subst" "0.00112927" "02326" "BAG3_000056" "g.121429413G>A" "" "" "" "BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978915" "0" "50" "10" "121431911" "121431911" "subst" "7.72182E-5" "02327" "BAG3_000009" "g.121431911C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978916" "0" "50" "10" "121432161" "121432161" "subst" "0" "01804" "BAG3_000200" "g.121432161G>A" "" "" "" "BAG3(NM_004281.4):c.902G>A (p.(Arg301Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978917" "0" "90" "10" "121436071" "121436071" "dup" "0" "02330" "BAG3_000201" "g.121436071dup" "" "" "" "BAG3(NM_004281.4):c.1005dupA (p.H336Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000978918" "0" "50" "10" "121436373" "121436373" "subst" "0" "02330" "BAG3_000202" "g.121436373A>G" "" "" "" "BAG3(NM_004281.4):c.1307A>G (p.E436G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978919" "0" "30" "10" "121436489" "121436489" "subst" "2.84271E-5" "01804" "BAG3_000024" "g.121436489G>A" "" "" "" "BAG3(NM_004281.4):c.1423G>A (p.(Asp475Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000986099" "0" "30" "10" "121436477" "121436477" "subst" "1.6258E-5" "03779" "BAG3_000203" "g.121436477G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs778496291" "0" "" "" "" "" "likely benign" ""
"0000989671" "0" "50" "10" "121431875" "121431875" "subst" "2.44039E-5" "02515" "BAG3_000120" "g.121431875A>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs199700646" "0" "" "" "g.119672363A>C" "" "VUS" ""
"0000989831" "0" "50" "10" "121432100" "121432100" "subst" "8.14392E-6" "02515" "BAG3_000204" "g.121432100G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs1248777510" "0" "" "" "g.119672588G>A" "" "VUS" ""
"0000998150" "0" "30" "10" "121411289" "121411289" "subst" "0" "02330" "BAG3_000205" "g.121411289C>A" "" "" "" "BAG3(NM_004281.4):c.102C>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000998151" "0" "90" "10" "121429450" "121429450" "subst" "0" "02327" "BAG3_000013" "g.121429450C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000998154" "0" "50" "10" "121436477" "121436477" "subst" "1.6258E-5" "02327" "BAG3_000203" "g.121436477G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014593" "0" "50" "10" "121436130" "121436130" "subst" "0" "02330" "BAG3_000206" "g.121436130C>T" "" "" "" "BAG3(NM_004281.4):c.1064C>T (p.P355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014594" "0" "70" "10" "121436429" "121436429" "subst" "0" "02325" "BAG3_000207" "g.121436429G>A" "" "" "" "BAG3(NM_004281.4):c.1363G>A (p.E455K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001014595" "0" "10" "10" "121437012" "121437012" "subst" "0" "02327" "BAG3_000008" "g.121437012G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001019333" "0" "70" "10" "121436246" "121436246" "subst" "0" "03779" "BAG3_000208" "g.121436246G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0001020972" "0" "50" "10" "121411266" "121411266" "subst" "0" "03779" "BAG3_000209" "g.121411266G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" ""
"0001021275" "0" "50" "10" "121429459" "121429459" "subst" "4.06068E-6" "00006" "BAG3_000210" "g.121429459T>C" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.119669947T>C" "" "VUS" ""
"0001025719" "0" "10" "10" "121431763" "121431763" "dup" "0" "02330" "BAG3_000184" "g.121431763dup" "" "" "" "BAG3(NM_004281.4):c.508-4dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001025720" "0" "30" "10" "121432114" "121432114" "subst" "0.000398873" "02326" "BAG3_000031" "g.121432114G>A" "" "" "" "BAG3(NM_004281.3):c.855G>A (p.T285=), BAG3(NM_004281.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001025721" "0" "30" "10" "121436808" "121436808" "subst" "0" "02330" "BAG3_000211" "g.121436808A>G" "" "" "" "BAG3(NM_004281.4):c.*14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001030860" "0" "70" "10" "121431765" "121431765" "subst" "0" "03779" "BAG3_000212" "g.121431765A>G" "" "" "" "" "" "Unknown" "" "rs2134064900" "0" "" "" "" "" "likely pathogenic" ""
"0001037750" "0" "30" "10" "121429393" "121429393" "subst" "0.000150364" "02327" "BAG3_000012" "g.121429393C>T" "" "" "" "BAG3(NM_004281.4):c.211C>T (p.R71W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001046228" "0" "50" "10" "121431970" "121431970" "subst" "4.06527E-6" "02327" "BAG3_000167" "g.121431970G>C" "" "" "" "BAG3(NM_004281.4):c.711G>C (p.Q237H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046229" "0" "50" "10" "121432080" "121432080" "subst" "0.000138755" "02325" "BAG3_000029" "g.121432080C>T" "" "" "" "BAG3(NM_004281.3):c.821C>T (p.S274L), BAG3(NM_004281.4):c.821C>T (p.S274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053718" "0" "30" "10" "121429525" "121429525" "subst" "1.62442E-5" "02327" "BAG3_000105" "g.121429525C>T" "" "" "" "BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001053719" "0" "30" "10" "121429645" "121429645" "subst" "0.00290568" "01804" "BAG3_000110" "g.121429645G>A" "" "" "" "BAG3(NM_004281.3):c.463G>A (p.A155T), BAG3(NM_004281.4):c.463G>A (p.A155T, p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 BAG3
## Count = 381
"{{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}}"
"0000097059" "00003247" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ser185Leu)" "3"
"0000168831" "00003247" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "4"
"0000168832" "00003247" "90" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Pro63Ala)" "2"
"0000218355" "00003247" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" ""
"0000218356" "00003247" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" ""
"0000218442" "00003247" "50" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139Trp)" ""
"0000246894" "00003247" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Val432=)" ""
"0000246895" "00003247" "10" "910" "-21" "910" "-21" "c.910-21A>C" "r.(=)" "p.(=)" ""
"0000246905" "00003247" "10" "381" "0" "381" "0" "c.381A>T" "r.(?)" "p.(Ala127=)" ""
"0000246906" "00003247" "10" "465" "0" "465" "0" "c.465A>G" "r.(?)" "p.(Ala155=)" ""
"0000246920" "00003247" "10" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Met9Val)" ""
"0000248176" "00003247" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Val432=)" ""
"0000249844" "00003247" "50" "1741" "0" "1741" "0" "c.*13A>G" "r.(=)" "p.(=)" ""
"0000250879" "00003247" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Val432=)" ""
"0000250983" "00003247" "10" "910" "-21" "910" "-21" "c.910-21A>C" "r.(=)" "p.(=)" ""
"0000254228" "00003247" "30" "1416" "0" "1416" "0" "c.1416A>G" "r.(?)" "p.(Gly472=)" ""
"0000258549" "00003247" "10" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" ""
"0000258550" "00003247" "10" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(Pro334=)" ""
"0000258551" "00003247" "10" "1029" "0" "1029" "0" "c.1029C>A" "r.(?)" "p.(Arg343=)" ""
"0000258552" "00003247" "50" "1099" "0" "1099" "0" "c.1099C>A" "r.(?)" "p.(Pro367Thr)" ""
"0000258553" "00003247" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" ""
"0000258554" "00003247" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" ""
"0000258555" "00003247" "50" "1232" "0" "1234" "0" "c.1232_1234del" "r.(?)" "p.(Gly411del)" ""
"0000258556" "00003247" "50" "1433" "0" "1436" "0" "c.1433_1436del" "r.(?)" "p.(Gln478ProfsTer87)" ""
"0000258557" "00003247" "10" "1503" "0" "1503" "0" "c.1503C>A" "r.(?)" "p.(Val501=)" ""
"0000258558" "00003247" "10" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(Ala529=)" ""
"0000258559" "00003247" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" ""
"0000258560" "00003247" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Pro575=)" ""
"0000258561" "00003247" "10" "181" "-9" "181" "-9" "c.181-9T>A" "r.(=)" "p.(=)" ""
"0000258562" "00003247" "10" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Pro63Ala)" ""
"0000258563" "00003247" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" ""
"0000258564" "00003247" "30" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" ""
"0000258565" "00003247" "10" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Pro77=)" ""
"0000258566" "00003247" "10" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(His83Gln)" ""
"0000258567" "00003247" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Gln)" ""
"0000258568" "00003247" "10" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Ala157=)" ""
"0000258570" "00003247" "10" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Gln161=)" ""
"0000258571" "00003247" "50" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Trp)" ""
"0000258572" "00003247" "10" "606" "0" "606" "0" "c.606G>T" "r.(?)" "p.(Pro202=)" ""
"0000258573" "00003247" "10" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Gly204=)" ""
"0000258574" "00003247" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Pro23Ser)" ""
"0000258575" "00003247" "10" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Pro257=)" ""
"0000258576" "00003247" "10" "870" "0" "870" "0" "c.870C>G" "r.(?)" "p.(Pro290=)" ""
"0000258577" "00003247" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" ""
"0000258578" "00003247" "10" "909" "17" "909" "17" "c.909+17G>A" "r.(=)" "p.(=)" ""
"0000259352" "00003247" "30" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" ""
"0000259353" "00003247" "30" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(Ala529=)" ""
"0000259354" "00003247" "30" "181" "-9" "181" "-9" "c.181-9T>A" "r.(=)" "p.(=)" ""
"0000259355" "00003247" "30" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" ""
"0000259356" "00003247" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Pro77=)" ""
"0000259357" "00003247" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Gln161=)" ""
"0000259358" "00003247" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Pro257=)" ""
"0000259359" "00003247" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" ""
"0000259576" "00003247" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000259577" "00003247" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Ala176=)" ""
"0000259578" "00003247" "30" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Ser183=)" ""
"0000259579" "00003247" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Arg276=)" ""
"0000259580" "00003247" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" ""
"0000259581" "00003247" "30" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Pro32=)" ""
"0000259582" "00003247" "30" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Pro330Ser)" ""
"0000259707" "00003247" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" ""
"0000259708" "00003247" "50" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" ""
"0000261369" "00003247" "70" "1087" "0" "1087" "0" "c.1087G>T" "r.(?)" "p.(Glu363Ter)" ""
"0000261370" "00003247" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Val530Met)" ""
"0000261371" "00003247" "10" "181" "-9" "181" "-9" "c.181-9T>A" "r.(=)" "p.(=)" ""
"0000261372" "00003247" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000261373" "00003247" "30" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" ""
"0000261374" "00003247" "30" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Ser183=)" ""
"0000261375" "00003247" "10" "606" "0" "606" "0" "c.606G>T" "r.(?)" "p.(Pro202=)" ""
"0000261376" "00003247" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Gly204=)" ""
"0000261377" "00003247" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" ""
"0000261378" "00003247" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309Gln)" ""
"0000261379" "00003247" "50" "957" "0" "957" "0" "c.957C>G" "r.(?)" "p.(Asn319Lys)" ""
"0000263502" "00003247" "10" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" ""
"0000263503" "00003247" "50" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.(=)" ""
"0000263504" "00003247" "30" "1029" "0" "1029" "0" "c.1029C>A" "r.(?)" "p.(Arg343=)" ""
"0000263505" "00003247" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" ""
"0000263506" "00003247" "50" "1496" "0" "1496" "0" "c.1496T>C" "r.(?)" "p.(Ile499Thr)" ""
"0000263507" "00003247" "30" "1503" "0" "1503" "0" "c.1503C>A" "r.(?)" "p.(Val501=)" ""
"0000263508" "00003247" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Pro512Ser)" ""
"0000263509" "00003247" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Val530Met)" ""
"0000263510" "00003247" "90" "180" "1" "180" "1" "c.180+1G>A" "r.spl?" "p.?" ""
"0000263511" "00003247" "10" "181" "-9" "181" "-9" "c.181-9T>A" "r.(=)" "p.(=)" ""
"0000263512" "00003247" "10" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Pro63Ala)" ""
"0000263513" "00003247" "30" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" ""
"0000263514" "00003247" "10" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Pro77=)" ""
"0000263515" "00003247" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" ""
"0000263519" "00003247" "50" "538" "0" "538" "0" "c.538T>A" "r.(?)" "p.(Ser180Thr)" ""
"0000263520" "00003247" "30" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Ser183=)" ""
"0000263521" "00003247" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Ser183=)" ""
"0000263522" "00003247" "10" "606" "0" "606" "0" "c.606G>T" "r.(?)" "p.(Pro202=)" ""
"0000263523" "00003247" "30" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Thr231=)" ""
"0000263524" "00003247" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Pro257=)" ""
"0000263525" "00003247" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" ""
"0000263526" "00003247" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ser274Leu)" ""
"0000263527" "00003247" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" ""
"0000263528" "00003247" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" ""
"0000263529" "00003247" "30" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000263530" "00003247" "10" "909" "30" "909" "30" "c.909+30T>G" "r.(=)" "p.(=)" ""
"0000263531" "00003247" "30" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Pro32=)" ""
"0000337050" "00003247" "30" "-143" "0" "-142" "0" "c.-143_-142insAGT" "r.(?)" "p.(=)" ""
"0000339333" "00003247" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" ""
"0000339334" "00003247" "10" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(Pro334=)" ""
"0000339335" "00003247" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Val432=)" ""
"0000343303" "00003247" "10" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000344105" "00003247" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" ""
"0000344283" "00003247" "10" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Cys151Arg)" ""
"0000348229" "00003247" "30" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Pro163Ser)" ""
"0000348335" "00003247" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Pro265Leu)" ""
"0000348435" "00003247" "10" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" ""
"0000368371" "00003247" "90" "889" "0" "890" "0" "c.889_890del" "r.(?)" "p.(Thr297Argfs*21)" ""
"0000408124" "00003247" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Gln340*)" "4"
"0000408125" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408126" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408127" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408128" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408129" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408130" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408131" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408132" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408133" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408134" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408135" "00003247" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "3"
"0000408136" "00003247" "90" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Leu462Pro)" "4"
"0000408137" "00003247" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "3"
"0000408138" "00003247" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" "2"
"0000408139" "00003247" "50" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Cys151Arg)" "2"
"0000408140" "00003247" "50" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(=)" "4"
"0000408141" "00003247" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Ala405Val)" "4"
"0000408142" "00003247" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" "4"
"0000408143" "00003247" "50" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(=)" "4"
"0000408144" "00003247" "50" "1946" "0" "1946" "0" "c.*218G>C" "r.(?)" "p.(=)" "4"
"0000438827" "00003247" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.Pro77Leu" ""
"0000539265" "00003247" "30" "-271" "0" "-271" "0" "c.-271C>T" "r.(?)" "p.(=)" ""
"0000539266" "00003247" "30" "-95" "0" "-95" "0" "c.-95G>A" "r.(?)" "p.(=)" ""
"0000539267" "00003247" "30" "-86" "0" "-86" "0" "c.-86G>A" "r.(?)" "p.(=)" ""
"0000539268" "00003247" "30" "-27" "0" "-27" "0" "c.-27G>T" "r.(?)" "p.(=)" ""
"0000539269" "00003247" "10" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" ""
"0000539270" "00003247" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Val12Met)" ""
"0000539271" "00003247" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Gly25AspfsTer186)" ""
"0000539272" "00003247" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Gly25AspfsTer186)" ""
"0000539274" "00003247" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Ser)" ""
"0000539275" "00003247" "50" "180" "3" "180" "3" "c.180+3G>A" "r.spl?" "p.?" ""
"0000539279" "00003247" "10" "181" "-9" "181" "-9" "c.181-9T>A" "r.(=)" "p.(=)" ""
"0000539280" "00003247" "10" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Pro63Ala)" ""
"0000539281" "00003247" "10" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Pro63Ala)" ""
"0000539282" "00003247" "10" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000539283" "00003247" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000539284" "00003247" "50" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Arg71Leu)" ""
"0000539285" "00003247" "30" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Arg71Leu)" ""
"0000539286" "00003247" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Pro77=)" ""
"0000539287" "00003247" "10" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(His83Gln)" ""
"0000539288" "00003247" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539289" "00003247" "50" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539290" "00003247" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539291" "00003247" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539292" "00003247" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539293" "00003247" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000539294" "00003247" "50" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Pro115Ser)" ""
"0000539296" "00003247" "30" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Pro115Ser)" ""
"0000539297" "00003247" "30" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Pro115Ser)" ""
"0000539298" "00003247" "50" "400" "0" "400" "0" "c.400T>A" "r.(?)" "p.(Ser134Thr)" ""
"0000539299" "00003247" "30" "400" "0" "400" "0" "c.400T>A" "r.(?)" "p.(Ser134Thr)" ""
"0000539300" "00003247" "30" "400" "0" "400" "0" "c.400T>A" "r.(?)" "p.(Ser134Thr)" ""
"0000539301" "00003247" "30" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" ""
"0000539302" "00003247" "10" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Cys151Arg)" ""
"0000539303" "00003247" "10" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Cys151Arg)" ""
"0000539304" "00003247" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" ""
"0000539305" "00003247" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Gly152Glu)" ""
"0000539306" "00003247" "10" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000539307" "00003247" "50" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000539308" "00003247" "30" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000539309" "00003247" "10" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000539311" "00003247" "10" "474" "0" "475" "0" "c.474_475insCGG" "r.(?)" "p.(Ala158_Ala159insArg)" ""
"0000539312" "00003247" "10" "474" "0" "476" "0" "c.474_476dup" "r.(?)" "p.(Ala160dup)" ""
"0000539313" "00003247" "50" "474" "0" "476" "0" "c.474_476dup" "r.(?)" "p.(Ala160dup)" ""
"0000539314" "00003247" "10" "474" "0" "476" "0" "c.474_476dup" "r.(?)" "p.(Ala160dup)" ""
"0000539317" "00003247" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Gln161=)" ""
"0000539318" "00003247" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Pro163Ser)" ""
"0000539319" "00003247" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(His166=)" ""
"0000539322" "00003247" "30" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" ""
"0000539323" "00003247" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Ala176=)" ""
"0000539324" "00003247" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Ser191=)" ""
"0000539325" "00003247" "10" "606" "0" "606" "0" "c.606G>T" "r.(?)" "p.(Pro202=)" ""
"0000539326" "00003247" "90" "607" "0" "608" "0" "c.607_608del" "r.(?)" "p.(Arg203GlyfsTer51)" ""
"0000539327" "00003247" "30" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Ile206Leu)" ""
"0000539328" "00003247" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" ""
"0000539329" "00003247" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" ""
"0000539330" "00003247" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" ""
"0000539331" "00003247" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" ""
"0000539332" "00003247" "30" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(Pro223=)" ""
"0000539333" "00003247" "10" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Thr231=)" ""
"0000539334" "00003247" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Pro257=)" ""
"0000539335" "00003247" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Pro257=)" ""
"0000539336" "00003247" "10" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" ""
"0000539337" "00003247" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" ""
"0000539338" "00003247" "30" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ser274Leu)" ""
"0000539339" "00003247" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Trp)" ""
"0000539340" "00003247" "10" "837" "0" "837" "0" "c.837A>C" "r.(?)" "p.(Ser279=)" ""
"0000539341" "00003247" "30" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Thr285Met)" ""
"0000539342" "00003247" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" ""
"0000539343" "00003247" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" ""
"0000539344" "00003247" "10" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" ""
"0000539345" "00003247" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" ""
"0000539346" "00003247" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" ""
"0000539347" "00003247" "30" "909" "40" "909" "40" "c.909+40A>G" "r.(=)" "p.(=)" ""
"0000539348" "00003247" "10" "910" "-21" "910" "-21" "c.910-21A>C" "r.(=)" "p.(=)" ""
"0000539349" "00003247" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Gln304Ter)" ""
"0000539350" "00003247" "50" "915" "0" "915" "0" "c.915dup" "r.(?)" "p.(Met306HisfsTer13)" ""
"0000539351" "00003247" "30" "921" "0" "921" "0" "c.921C>G" "r.(?)" "p.(Thr307=)" ""
"0000539352" "00003247" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" ""
"0000539353" "00003247" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Pro368Leu)" ""
"0000539354" "00003247" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" ""
"0000539355" "00003247" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" ""
"0000539356" "00003247" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" ""
"0000539357" "00003247" "30" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" ""
"0000539358" "00003247" "10" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" ""
"0000539359" "00003247" "30" "1232" "0" "1234" "0" "c.1232_1234del" "r.(?)" "p.(Gly411del)" ""
"0000539360" "00003247" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Glu414Lys)" ""
"0000539361" "00003247" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Glu414Lys)" ""
"0000539363" "00003247" "50" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Asn441Asp)" ""
"0000539364" "00003247" "30" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Asn441Asp)" ""
"0000539365" "00003247" "50" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Cys)" ""
"0000539366" "00003247" "10" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ala479Val)" ""
"0000539367" "00003247" "70" "1565" "0" "1565" "0" "c.1565del" "r.(?)" "p.(Gln522ArgfsTer44)" ""
"0000539368" "00003247" "50" "1634" "0" "1634" "0" "c.1634C>G" "r.(?)" "p.(Pro545Arg)" ""
"0000539369" "00003247" "30" "1651" "0" "1651" "0" "c.1651C>A" "r.(?)" "p.(Gln551Lys)" ""
"0000539370" "00003247" "30" "1651" "0" "1651" "0" "c.1651C>A" "r.(?)" "p.(Gln551Lys)" ""
"0000539371" "00003247" "50" "1663" "0" "1666" "0" "c.1663_1666dup" "r.(?)" "p.(Ala556AspfsTer17)" ""
"0000539372" "00003247" "10" "1741" "0" "1741" "0" "c.*13A>G" "r.(=)" "p.(=)" ""
"0000612308" "00003247" "30" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Met9Val)" ""
"0000612309" "00003247" "30" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Pro32=)" ""
"0000612310" "00003247" "30" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(Pro37=)" ""
"0000612312" "00003247" "70" "245" "0" "245" "0" "c.245dup" "r.(?)" "p.(His83ProfsTer19)" ""
"0000612313" "00003247" "30" "462" "0" "464" "0" "c.462_464dup" "r.(?)" "p.(Ala160dup)" ""
"0000612314" "00003247" "10" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000612315" "00003247" "50" "474" "0" "476" "0" "c.474_476dup" "r.(?)" "p.(Ala160dup)" ""
"0000612316" "00003247" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Gln161=)" ""
"0000612318" "00003247" "10" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Ser183=)" ""
"0000612319" "00003247" "30" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Leu196=)" ""
"0000612320" "00003247" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Pro209=)" ""
"0000612321" "00003247" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Asn215=)" ""
"0000612322" "00003247" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" ""
"0000612323" "00003247" "30" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" ""
"0000612324" "00003247" "10" "909" "5" "909" "5" "c.909+5G>A" "r.spl?" "p.?" ""
"0000612326" "00003247" "30" "1029" "0" "1029" "0" "c.1029C>A" "r.(?)" "p.(Arg343=)" ""
"0000612327" "00003247" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Glu414Lys)" ""
"0000612329" "00003247" "30" "1264" "0" "1264" "0" "c.1264G>C" "r.(?)" "p.(Val422Leu)" ""
"0000612330" "00003247" "50" "1358" "0" "1358" "0" "c.1358T>A" "r.(?)" "p.(Met453Lys)" ""
"0000612331" "00003247" "30" "1496" "0" "1496" "0" "c.1496T>C" "r.(?)" "p.(Ile499Thr)" ""
"0000612332" "00003247" "30" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" ""
"0000612333" "00003247" "50" "1663" "0" "1666" "0" "c.1663_1666dup" "r.(?)" "p.(Ala556AspfsTer17)" ""
"0000612334" "00003247" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Ala558=)" ""
"0000612335" "00003247" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Asp567Gly)" ""
"0000612336" "00003247" "30" "1702" "0" "1702" "0" "c.1702A>G" "r.(?)" "p.(Thr568Ala)" ""
"0000622342" "00003247" "50" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Ile206Leu)" ""
"0000622343" "00003247" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" ""
"0000622344" "00003247" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" ""
"0000622345" "00003247" "90" "1257" "0" "1257" "0" "c.1257dup" "r.(?)" "p.(Pro420SerfsTer24)" ""
"0000622346" "00003247" "90" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Cys)" ""
"0000622347" "00003247" "50" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Tyr508Cys)" ""
"0000647851" "00003247" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" ""
"0000652972" "00003247" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71Gln)" ""
"0000656430" "00003247" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ser185Leu)" ""
"0000656431" "00003247" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Arg276=)" ""
"0000656432" "00003247" "30" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000656433" "00003247" "50" "957" "0" "957" "0" "c.957C>G" "r.(?)" "p.(Asn319Lys)" ""
"0000656434" "00003247" "50" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Asn441Asp)" ""
"0000656435" "00003247" "50" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477His)" ""
"0000656436" "00003247" "30" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ala479Val)" ""
"0000660257" "00003247" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Gln522*)" ""
"0000678786" "00003247" "30" "181" "-12" "181" "-12" "c.181-12T>C" "r.(=)" "p.(=)" ""
"0000678788" "00003247" "30" "851" "0" "851" "0" "c.851G>T" "r.(?)" "p.(Ser284Ile)" ""
"0000678789" "00003247" "30" "1503" "0" "1503" "0" "c.1503C>A" "r.(?)" "p.(Val501=)" ""
"0000690653" "00003247" "50" "537" "0" "537" "0" "c.537C>G" "r.(?)" "p.(Cys179Trp)" ""
"0000690654" "00003247" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000694122" "00003247" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Tyr86Leufs*16)" ""
"0000697326" "00003247" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" ""
"0000701769" "00003247" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Gln316*)" ""
"0000722702" "00003247" "30" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Met9Val)" ""
"0000722703" "00003247" "10" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Pro32=)" ""
"0000722704" "00003247" "50" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" ""
"0000722705" "00003247" "50" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" ""
"0000722706" "00003247" "10" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Ser183=)" ""
"0000722707" "00003247" "50" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Gln237His)" ""
"0000722708" "00003247" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Trp)" ""
"0000722709" "00003247" "50" "896" "0" "896" "0" "c.896T>A" "r.(?)" "p.(Val299Asp)" ""
"0000722710" "00003247" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Pro330Ser)" ""
"0000722711" "00003247" "30" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Asn441Asp)" ""
"0000722712" "00003247" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Ile454=)" ""
"0000722713" "00003247" "70" "1418" "0" "1418" "0" "c.1418dup" "r.(?)" "p.(Ala474Serfs*22)" ""
"0000722714" "00003247" "50" "1663" "0" "1666" "0" "c.1663_1666dup" "r.(?)" "p.(Ala556AspfsTer17)" ""
"0000790003" "00003247" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Pro325GlnfsTer17)" ""
"0000804318" "00003247" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ser279Leu)" ""
"0000804319" "00003247" "50" "896" "0" "896" "0" "c.896T>A" "r.(?)" "p.(Val299Asp)" ""
"0000804320" "00003247" "50" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Asn441Asp)" ""
"0000804321" "00003247" "30" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ala479Val)" ""
"0000823990" "00003247" "50" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139Trp)" "2"
"0000852416" "00003247" "30" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Arg71Leu)" ""
"0000852417" "00003247" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" ""
"0000852418" "00003247" "10" "474" "0" "476" "0" "c.474_476dup" "r.(?)" "p.(Ala160dup)" ""
"0000852419" "00003247" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Pro265Leu)" ""
"0000852420" "00003247" "30" "804" "0" "804" "0" "c.804A>C" "r.(?)" "p.(Ser268=)" ""
"0000852421" "00003247" "50" "910" "-2" "910" "-2" "c.910-2A>G" "r.spl?" "p.?" ""
"0000852422" "00003247" "50" "1026" "0" "1026" "0" "c.1026C>G" "r.(?)" "p.(Ile342Met)" ""
"0000852423" "00003247" "50" "1153" "0" "1153" "0" "c.1153T>C" "r.(?)" "p.(Ser385Pro)" ""
"0000861840" "00003247" "50" "943" "0" "943" "0" "c.943T>A" "r.(?)" "p.(Ser315Thr)" ""
"0000861841" "00003247" "30" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" ""
"0000861842" "00003247" "30" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" ""
"0000878905" "00003247" "70" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Pro575Leu)" "4"
"0000889026" "00003247" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" ""
"0000889027" "00003247" "70" "89" "0" "89" "0" "c.89del" "r.(?)" "p.(Ile30Thrfs*181)" ""
"0000889028" "00003247" "30" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Pro32=)" ""
"0000889029" "00003247" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" ""
"0000889030" "00003247" "50" "173" "0" "173" "0" "c.173G>T" "r.(?)" "p.(Gly58Val)" ""
"0000889031" "00003247" "90" "180" "1" "180" "1" "c.180+1G>A" "r.spl?" "p.?" ""
"0000889033" "00003247" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" ""
"0000889034" "00003247" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" ""
"0000889035" "00003247" "30" "381" "0" "381" "0" "c.381A>T" "r.(?)" "p.(Ala127=)" ""
"0000889036" "00003247" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" ""
"0000889037" "00003247" "30" "508" "-4" "508" "-4" "c.508-4dup" "r.spl?" "p.?" ""
"0000889038" "00003247" "50" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" ""
"0000889039" "00003247" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Gly197Alafs*14)" ""
"0000889040" "00003247" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Asn215=)" ""
"0000889041" "00003247" "30" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Thr231=)" ""
"0000889042" "00003247" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Ser)" ""
"0000889043" "00003247" "30" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(Ala529=)" ""
"0000913235" "00003247" "50" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Ile206Leu)" ""
"0000913236" "00003247" "90" "778" "0" "778" "0" "c.778dup" "r.(?)" "p.(Leu260Profs*59)" ""
"0000913237" "00003247" "30" "1503" "0" "1503" "0" "c.1503C>A" "r.(?)" "p.(Val501=)" ""
"0000925124" "00003247" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Ala235=)" ""
"0000925125" "00003247" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Val530Met)" ""
"0000929647" "00003247" "10" "1734" "0" "1734" "0" "c.*6G>T" "r.(=)" "p.(=)" ""
"0000946081" "00003247" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" ""
"0000949351" "00003247" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" ""
"0000949352" "00003247" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" ""
"0000949353" "00003247" "70" "1427" "0" "1429" "0" "c.1427_1429del" "r.(?)" "p.(Val476_Arg477delinsGly)" ""
"0000949354" "00003247" "70" "1430" "0" "1431" "0" "c.1430_1431insAT" "r.(?)" "p.(Gln478Phefs*89)" ""
"0000955066" "00003247" "70" "741" "0" "741" "0" "c.741C>G" "r.(?)" "p.(Tyr247Ter)" ""
"0000957816" "00003247" "70" "1444" "0" "1445" "0" "c.1444_1445del" "r.(?)" "p.(Asp482ArgfsTer13)" ""
"0000957838" "00003247" "70" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" ""
"0000957850" "00003247" "50" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Ile94Phe)" ""
"0000957873" "00003247" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000957876" "00003247" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000965608" "00003247" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" ""
"0000965609" "00003247" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" ""
"0000965613" "00003247" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Arg)" ""
"0000965614" "00003247" "30" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Thr231Met)" ""
"0000965615" "00003247" "50" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Thr231Met)" ""
"0000965617" "00003247" "50" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Trp)" ""
"0000965619" "00003247" "50" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Gln316Arg)" ""
"0000965620" "00003247" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Ser)" ""
"0000965621" "00003247" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Ser)" ""
"0000978912" "00003247" "30" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.(=)" ""
"0000978914" "00003247" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Pro77=)" ""
"0000978915" "00003247" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" ""
"0000978916" "00003247" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Lys)" ""
"0000978917" "00003247" "90" "1005" "0" "1005" "0" "c.1005dup" "r.(?)" "p.(His336Thrfs*14)" ""
"0000978918" "00003247" "50" "1307" "0" "1307" "0" "c.1307A>G" "r.(?)" "p.(Glu436Gly)" ""
"0000978919" "00003247" "30" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" ""
"0000986099" "00003247" "30" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000989671" "00003247" "50" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Ile206Leu)" ""
"0000989831" "00003247" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Ala281Thr)" ""
"0000998150" "00003247" "30" "102" "0" "102" "0" "c.102C>A" "r.(?)" "p.(=)" ""
"0000998151" "00003247" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" ""
"0000998154" "00003247" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0001014593" "00003247" "50" "1064" "0" "1064" "0" "c.1064C>T" "r.(?)" "p.(Pro355Leu)" ""
"0001014594" "00003247" "70" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Glu455Lys)" ""
"0001014595" "00003247" "10" "1946" "0" "1946" "0" "c.*218G>C" "r.(=)" "p.(=)" ""
"0001019333" "00003247" "70" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Glu394Ter)" ""
"0001020972" "00003247" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" ""
"0001021275" "00003247" "50" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Tyr93His)" ""
"0001025719" "00003247" "10" "508" "-4" "508" "-4" "c.508-4dup" "r.spl?" "p.?" ""
"0001025720" "00003247" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" ""
"0001025721" "00003247" "30" "1742" "0" "1742" "0" "c.*14A>G" "r.(=)" "p.(=)" ""
"0001030860" "00003247" "70" "508" "-2" "508" "-2" "c.508-2A>G" "r.(?)" "p.(?)" ""
"0001037750" "00003247" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" ""
"0001046228" "00003247" "50" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Gln237His)" ""
"0001046229" "00003247" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ser274Leu)" ""
"0001053718" "00003247" "30" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Pro115Ser)" ""
"0001053719" "00003247" "30" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 39
"{{screeningid}}" "{{variantid}}"
"0000065386" "0000097059"
"0000102555" "0000168831"
"0000102555" "0000168832"
"0000129223" "0000218355"
"0000129223" "0000218356"
"0000129286" "0000218442"
"0000164769" "0000368371"
"0000184155" "0000408124"
"0000184156" "0000408125"
"0000184157" "0000408126"
"0000184158" "0000408127"
"0000184159" "0000408128"
"0000184160" "0000408129"
"0000184161" "0000408130"
"0000184162" "0000408131"
"0000184163" "0000408132"
"0000184164" "0000408133"
"0000184165" "0000408134"
"0000184166" "0000408135"
"0000184167" "0000408136"
"0000208837" "0000438827"
"0000291162" "0000647851"
"0000296283" "0000652972"
"0000297651" "0000660257"
"0000297819" "0000701769"
"0000312533" "0000694122"
"0000315237" "0000697326"
"0000377598" "0000790003"
"0000393178" "0000823990"
"0000418983" "0000878905"
"0000444224" "0000946081"
"0000448383" "0000957873"
"0000448409" "0000957816"
"0000448431" "0000957838"
"0000448443" "0000957850"
"0000448458" "0000957876"
"0000454770" "0000989671"
"0000454770" "0000989831"
"0000461920" "0001021275"