### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDLIM3) # 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}}" "PDLIM3" "PDZ and LIM domain 3" "4" "q35" "unknown" "NG_032576.3" "UD_134408516668" "" "https://www.LOVD.nl/PDLIM3" "" "1" "20767" "27295" "605889" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/PDLIM3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-04-01 00:00:00" "00006" "2019-12-30 12:28:15" "00000" "2024-02-26 20:06:56" ## 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}}" "00015923" "PDLIM3" "transcript variant 1" "004" "NM_014476.5" "" "NP_055291.2" "" "" "" "-124" "2729" "1095" "186456712" "186421814" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00064098" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064120" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00210551" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210552" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210553" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210554" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210555" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210556" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210557" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210558" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210559" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "patient\'s mother reported left bundle branch block on ECG, borderline cardiomyopathy" "F" "" "United States" "33y" "0" "" "" "" "17254821-Pat1" "00210560" "" "" "" "2" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210561" "" "" "" "6" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "United States" "" "0" "" "" "" "17254821-c" "00210562" "" "" "" "1" "" "00006" "{PMID:Bagnall 2010:20801532}" "patients mother (affected) diseased" "M" "" "United States" ">52y" "0" "" "" "" "20801532-Pat" "00293599" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293600" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293601" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00064098" "00351" "00064120" "00351" "00210551" "00000" "00210552" "00000" "00210553" "00000" "00210554" "00000" "00210555" "00000" "00210556" "00000" "00210557" "00000" "00210558" "00000" "00210559" "00352" "00210560" "00000" "00210561" "00000" "00210562" "00351" "00293599" "00198" "00293600" "00198" "00293601" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 00352 ## Count = 14 "{{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}}" "0000050614" "00351" "00064098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050636" "00351" "00064120" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159116" "00000" "00210551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159117" "00000" "00210552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159118" "00000" "00210553" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159119" "00000" "00210554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159120" "00000" "00210555" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159121" "00000" "00210556" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159122" "00000" "00210557" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159123" "00000" "00210558" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159124" "00352" "00210559" "00006" "Isolated (sporadic)" "" "ECG prominent ST-T-wave changes, dilation left atrium/ventricle, severe hypokinesia interventricular septum/left ventricular posterior wall; 33y-died of intractable heart failure while waiting for heart transplant" "32y" "" "CMD when pregnant" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000159125" "00000" "00210560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159126" "00000" "00210561" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159127" "00351" "00210562" "00006" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064231" "00064098" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064253" "00064120" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000211627" "00210551" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211628" "00210552" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211629" "00210553" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211630" "00210554" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211631" "00210555" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211632" "00210556" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211633" "00210557" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211634" "00210558" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211635" "00210559" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211636" "00210560" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211637" "00210561" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211638" "00210562" "1" "00006" "00006" "2012-04-06 20:35:07" "" "" "MCA;SEQ" "DNA" "" "" "0000294767" "00293599" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294768" "00293600" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294769" "00293601" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000064231" "TTN" "0000064253" "TTN" "0000211627" "PDLIM3" "0000211628" "PDLIM3" "0000211629" "PDLIM3" "0000211630" "PDLIM3" "0000211631" "PDLIM3" "0000211632" "PDLIM3" "0000211633" "PDLIM3" "0000211634" "PDLIM3" "0000211635" "PDLIM3" "0000211636" "PDLIM3" "0000211637" "PDLIM3" "0000211638" "PDLIM3" ## 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 = 84 "{{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}}" "0000095297" "0" "50" "4" "186423516" "186423516" "subst" "0.000353274" "00006" "PDLIM3_010001" "g.186423516T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001114107.1:c.A883G (T295A)" "" "Germline" "" "" "0" "" "" "g.185502362T>C" "" "VUS" "" "0000095388" "0" "50" "4" "186429568" "186429568" "subst" "4.06062E-6" "00006" "PDLIM3_010002" "g.186429568C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_014476:c.G547T" "" "Germline" "" "" "0" "" "" "g.185508414C>A" "" "VUS" "" "0000300689" "0" "50" "4" "186456578" "186456578" "subst" "0.000113928" "02326" "PDLIM3_010020" "g.186456578G>A" "" "" "" "PDLIM3(NM_014476.6):c.11C>T (p.T4M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185535424G>A" "" "VUS" "" "0000300690" "0" "10" "4" "186446257" "186446257" "subst" "0.00796359" "02326" "PDLIM3_010017" "g.186446257G>A" "" "" "" "PDLIM3(NM_014476.5):c.162C>T (p.G54=), PDLIM3(NM_014476.6):c.162C>T (p.G54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185525103G>A" "" "benign" "" "0000300691" "0" "30" "4" "186446250" "186446250" "subst" "0.00031283" "02326" "PDLIM3_010016" "g.186446250T>C" "" "" "" "PDLIM3(NM_014476.5):c.169A>G (p.T57A), PDLIM3(NM_014476.6):c.169A>G (p.T57A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185525096T>C" "" "likely benign" "" "0000300692" "0" "30" "4" "186446224" "186446224" "subst" "0.000780057" "02326" "PDLIM3_010015" "g.186446224C>T" "" "" "" "PDLIM3(NM_014476.5):c.195G>A (p.A65=), PDLIM3(NM_014476.6):c.195G>A (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185525070C>T" "" "likely benign" "" "0000300693" "0" "30" "4" "186444600" "186444600" "subst" "0.000266553" "02326" "PDLIM3_010014" "g.186444600C>T" "" "" "" "PDLIM3(NM_014476.6):c.246G>A (p.R82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185523446C>T" "" "likely benign" "" "0000300694" "0" "50" "4" "186444529" "186444529" "subst" "4.06504E-5" "02326" "PDLIM3_010013" "g.186444529T>G" "" "" "" "PDLIM3(NM_014476.6):c.317A>C (p.E106A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185523375T>G" "" "VUS" "" "0000300695" "0" "10" "4" "186435443" "186435443" "subst" "0.0070176" "02326" "PDLIM3_010012" "g.186435443C>T" "" "" "" "PDLIM3(NM_014476.5):c.379G>A (p.V127M), PDLIM3(NM_014476.6):c.379G>A (p.V127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185514289C>T" "" "benign" "" "0000300696" "0" "30" "4" "186435435" "186435435" "subst" "0.00147421" "02326" "PDLIM3_010011" "g.186435435C>T" "" "" "" "PDLIM3(NM_014476.5):c.387G>A (p.P129=), PDLIM3(NM_014476.6):c.387G>A (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185514281C>T" "" "likely benign" "" "0000300697" "0" "30" "4" "186456529" "186456529" "subst" "0.00142449" "02326" "PDLIM3_010018" "g.186456529G>T" "" "" "" "PDLIM3(NM_014476.5):c.60C>A (p.G20=), PDLIM3(NM_014476.6):c.60C>A (p.G20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185535375G>T" "" "likely benign" "" "0000300698" "0" "30" "4" "186427772" "186427772" "subst" "0.000417335" "02326" "PDLIM3_010009" "g.186427772C>G" "" "" "" "PDLIM3(NM_014476.5):c.697G>C (p.V233L), PDLIM3(NM_014476.6):c.697G>C (p.V233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185506618C>G" "" "likely benign" "" "0000300699" "0" "30" "4" "186427735" "186427735" "subst" "0.0176946" "02326" "PDLIM3_010008" "g.186427735G>A" "" "" "" "PDLIM3(NM_014476.6):c.734C>T (p.T245I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185506581G>A" "" "likely benign" "" "0000300700" "0" "50" "4" "186425731" "186425731" "subst" "0" "02326" "PDLIM3_010007" "g.186425731G>A" "" "" "" "PDLIM3(NM_014476.5):c.803C>T (p.P268L), PDLIM3(NM_014476.6):c.803C>T (p.P268L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185504577G>A" "" "VUS" "" "0000300701" "0" "50" "4" "186423599" "186423599" "subst" "4.06128E-6" "02326" "PDLIM3_010006" "g.186423599G>C" "" "" "" "PDLIM3(NM_014476.6):c.944C>G (p.P315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185502445G>C" "" "VUS" "" "0000305409" "0" "10" "4" "186423436" "186423436" "subst" "0.0111228" "01943" "PDLIM3_010003" "g.186423436G>A" "" "" "" "PDLIM3(NM_014476.5):c.*12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185502282G>A" "" "benign" "" "0000305410" "0" "50" "4" "186423498" "186423498" "subst" "0" "01943" "PDLIM3_010004" "g.186423498T>G" "" "" "" "PDLIM3(NM_014476.5):c.1045A>C (p.T349P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185502344T>G" "" "VUS" "" "0000305411" "0" "10" "4" "186446257" "186446257" "subst" "0.00796359" "01943" "PDLIM3_010017" "g.186446257G>A" "" "" "" "PDLIM3(NM_014476.5):c.162C>T (p.G54=), PDLIM3(NM_014476.6):c.162C>T (p.G54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185525103G>A" "" "benign" "" "0000305412" "0" "10" "4" "186435443" "186435443" "subst" "0.0070176" "01943" "PDLIM3_010012" "g.186435443C>T" "" "" "" "PDLIM3(NM_014476.5):c.379G>A (p.V127M), PDLIM3(NM_014476.6):c.379G>A (p.V127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185514289C>T" "" "benign" "" "0000305413" "0" "10" "4" "186456547" "186456547" "subst" "0.00543594" "01943" "PDLIM3_010019" "g.186456547G>A" "" "" "" "PDLIM3(NM_014476.5):c.42C>T (p.G14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185535393G>A" "" "benign" "" "0000305414" "0" "30" "4" "186456529" "186456529" "subst" "0.00142449" "01943" "PDLIM3_010018" "g.186456529G>T" "" "" "" "PDLIM3(NM_014476.5):c.60C>A (p.G20=), PDLIM3(NM_014476.6):c.60C>A (p.G20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185535375G>T" "" "likely benign" "" "0000305415" "0" "10" "4" "186427821" "186427821" "subst" "6.35308E-5" "01943" "PDLIM3_010010" "g.186427821C>T" "" "" "" "PDLIM3(NM_014476.5):c.663-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185506667C>T" "" "benign" "" "0000305416" "0" "30" "4" "186423550" "186423550" "subst" "0.000552244" "01943" "PDLIM3_010005" "g.186423550G>T" "" "" "" "PDLIM3(NM_014476.5):c.993C>A (p.G331=), PDLIM3(NM_014476.6):c.993C>A (p.G331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185502396G>T" "" "likely benign" "" "0000443225" "0" "10" "4" "186456547" "186456547" "subst" "0.00543594" "00006" "PDLIM3_000005" "g.186456547G>A" "" "{PMID:Arola 2007:17254821}" "" "Gly14Gly" "" "Germline" "" "rs116775669" "0" "" "" "g.185535393G>A" "" "benign" "" "0000443226" "0" "10" "4" "186456529" "186456529" "subst" "0.00142449" "00006" "PDLIM3_000006" "g.186456529G>T" "" "{PMID:Arola 2007:17254821}" "" "Gly20Gly" "" "Germline" "" "rs113792127" "0" "" "" "g.185535375G>T" "" "benign" "" "0000443227" "0" "10" "4" "186446257" "186446257" "subst" "0.00796359" "00006" "PDLIM3_000007" "g.186446257G>A" "" "{PMID:Arola 2007:17254821}" "" "Gly54Gly" "" "Germline" "" "rs112661328" "0" "" "" "g.185525103G>A" "" "benign" "" "0000443228" "0" "10" "4" "186446224" "186446224" "subst" "0.000780057" "00006" "PDLIM3_000008" "g.186446224C>T" "" "{PMID:Arola 2007:17254821}" "" "Ala65Ala" "" "Germline" "" "rs148570356" "0" "" "" "g.185525070C>T" "" "benign" "" "0000443229" "0" "10" "4" "186435435" "186435435" "subst" "0.00147421" "00006" "PDLIM3_000009" "g.186435435C>T" "" "{PMID:Arola 2007:17254821}" "" "Pro129Pro" "" "Germline" "" "rs138670107" "0" "" "" "g.185514281C>T" "" "benign" "" "0000443230" "0" "10" "4" "186427791" "186427791" "subst" "0.00767034" "00006" "PDLIM3_000010" "g.186427791C>T" "" "{PMID:Arola 2007:17254821}" "" "Ser226Ser" "" "Germline" "" "rs34943562" "0" "" "" "g.185506637C>T" "" "benign" "" "0000443231" "0" "10" "4" "186427734" "186427734" "subst" "0" "00006" "PDLIM3_000011" "g.186427734T>C" "" "{PMID:Arola 2007:17254821}" "" "Thr245Thr" "" "Germline" "" "" "0" "" "" "g.185506580T>C" "" "benign" "" "0000443232" "0" "10" "4" "186423637" "186423637" "subst" "0.788508" "00006" "PDLIM3_000012" "g.186423637G>A" "" "{PMID:Arola 2007:17254821}" "" "Val302Val" "" "Germline" "" "rs4635850" "0" "" "" "g.185502483G>A" "" "benign" "" "0000443233" "1" "90" "4" "186446241" "186446242" "dup" "0" "00006" "PDLIM3_000001" "g.186446241_186446242dup" "" "{PMID:Arola 2007:17254821}" "" "178insCA (M60Tfs1X)" "not in 274 control chromosomes" "Unknown" "" "" "0" "" "" "g.185525087_185525088dup" "" "pathogenic" "" "0000443234" "0" "10" "4" "186435443" "186435443" "subst" "0.0070176" "00006" "PDLIM3_000002" "g.186435443C>T" "" "{PMID:Arola 2007:17254821}" "" "379G>A (Val127Met)" "" "Germline" "" "" "0" "" "" "g.185514289C>T" "" "benign" "" "0000443235" "0" "10" "4" "186435443" "186435443" "subst" "0.0070176" "00006" "PDLIM3_000002" "g.186435443C>T" "" "{PMID:Arola 2007:17254821}" "" "379G>A (Val127Met)" "" "Germline" "" "" "0" "" "" "g.185514289C>T" "" "benign" "" "0000443236" "0" "10" "4" "186427735" "186427735" "subst" "0.0176946" "00006" "PDLIM3_000003" "g.186427735G>A" "" "{PMID:Arola 2007:17254821}" "" "734C>T (Thr253Ile)" "" "Germline" "" "" "0" "" "" "g.185506581G>A" "" "benign" "" "0000443237" "0" "10" "4" "186427735" "186427735" "subst" "0.0176946" "00006" "PDLIM3_000003" "g.186427735G>A" "" "{PMID:Arola 2007:17254821}" "" "734C>T (Thr253Ile)" "" "Germline" "" "" "0" "" "" "g.185506581G>A" "" "benign" "" "0000443238" "0" "50" "4" "186444529" "186444529" "subst" "4.06504E-5" "00006" "PDLIM3_000004" "g.186444529T>G" "" "{PMID:Bagnall 2010:20801532}" "" "" "not in 340 control chromosomes" "Germline" "" "" "0" "" "" "g.185523375T>G" "" "VUS" "" "0000522241" "0" "30" "4" "186423550" "186423550" "subst" "0.000552244" "02326" "PDLIM3_010005" "g.186423550G>T" "" "" "" "PDLIM3(NM_014476.5):c.993C>A (p.G331=), PDLIM3(NM_014476.6):c.993C>A (p.G331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185502396G>T" "" "likely benign" "" "0000522242" "0" "10" "4" "186425685" "186425685" "subst" "0.00200255" "01943" "PDLIM3_010021" "g.186425685G>A" "" "" "" "PDLIM3(NM_014476.5):c.849C>T (p.G283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185504531G>A" "" "benign" "" "0000522243" "0" "30" "4" "186425689" "186425689" "subst" "0" "02326" "PDLIM3_010022" "g.186425689T>C" "" "" "" "PDLIM3(NM_014476.6):c.845A>G (p.H282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185504535T>C" "" "likely benign" "" "0000522244" "0" "50" "4" "186425731" "186425731" "subst" "0" "01943" "PDLIM3_010007" "g.186425731G>A" "" "" "" "PDLIM3(NM_014476.5):c.803C>T (p.P268L), PDLIM3(NM_014476.6):c.803C>T (p.P268L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185504577G>A" "" "VUS" "" "0000522245" "0" "30" "4" "186427701" "186427701" "subst" "4.06736E-6" "02326" "PDLIM3_010023" "g.186427701G>A" "" "" "" "PDLIM3(NM_014476.6):c.768C>T (p.L256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506547G>A" "" "likely benign" "" "0000522246" "0" "10" "4" "186427791" "186427791" "subst" "0.00767034" "01943" "PDLIM3_000010" "g.186427791C>T" "" "" "" "PDLIM3(NM_014476.5):c.678G>A (p.S226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506637C>T" "" "benign" "" "0000522247" "0" "30" "4" "186435435" "186435435" "subst" "0.00147421" "01943" "PDLIM3_000009" "g.186435435C>T" "" "" "" "PDLIM3(NM_014476.5):c.387G>A (p.P129=), PDLIM3(NM_014476.6):c.387G>A (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514281C>T" "" "likely benign" "" "0000522248" "0" "30" "4" "186435507" "186435507" "subst" "0.000442744" "02326" "PDLIM3_010024" "g.186435507G>A" "" "" "" "PDLIM3(NM_014476.6):c.331-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514353G>A" "" "likely benign" "" "0000522249" "0" "50" "4" "186435939" "186435939" "subst" "4.5974E-5" "02326" "PDLIM3_010025" "g.186435939G>T" "" "" "" "PDLIM3(NM_001114107.5):c.436C>A (p.P146T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514785G>T" "" "VUS" "" "0000522250" "0" "50" "4" "186435955" "186435955" "subst" "5.26586E-5" "02326" "PDLIM3_010026" "g.186435955G>A" "" "" "" "PDLIM3(NM_001114107.5):c.420C>T (p.S140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514801G>A" "" "VUS" "" "0000522251" "0" "30" "4" "186444614" "186444618" "del" "0" "02326" "PDLIM3_010027" "g.186444614_186444618del" "" "" "" "PDLIM3(NM_014476.6):c.246-9_246-5delTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185523460_185523464del" "" "likely benign" "" "0000522252" "0" "30" "4" "186456511" "186456511" "subst" "0" "02326" "PDLIM3_010028" "g.186456511A>C" "" "" "" "PDLIM3(NM_014476.6):c.78T>G (p.P26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185535357A>C" "" "likely benign" "" "0000522253" "0" "30" "4" "186456535" "186456535" "subst" "4.63427E-5" "02326" "PDLIM3_010029" "g.186456535T>C" "" "" "" "PDLIM3(NM_014476.6):c.54A>G (p.S18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185535381T>C" "" "likely benign" "" "0000609143" "0" "50" "4" "186423321" "186423321" "subst" "0" "02327" "PDLIM3_010031" "g.186423321G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185502167G>C" "" "VUS" "" "0000609144" "0" "50" "4" "186423397" "186423397" "subst" "0.00574213" "02327" "PDLIM3_010032" "g.186423397G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185502243G>A" "" "VUS" "" "0000609145" "0" "50" "4" "186423617" "186423617" "subst" "7.31428E-5" "02327" "PDLIM3_010033" "g.186423617C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185502463C>T" "" "VUS" "" "0000609146" "0" "30" "4" "186423655" "186423655" "subst" "0.158547" "02327" "PDLIM3_010034" "g.186423655G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185502501G>A" "" "likely benign" "" "0000609147" "0" "50" "4" "186425731" "186425731" "subst" "0" "02327" "PDLIM3_010007" "g.186425731G>A" "" "" "" "PDLIM3(NM_014476.5):c.803C>T (p.P268L), PDLIM3(NM_014476.6):c.803C>T (p.P268L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185504577G>A" "" "VUS" "" "0000609148" "0" "50" "4" "186427665" "186427665" "subst" "1.22142E-5" "02327" "PDLIM3_010035" "g.186427665C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506511C>T" "" "VUS" "" "0000609149" "0" "10" "4" "186427735" "186427735" "subst" "0.0176946" "02327" "PDLIM3_000003" "g.186427735G>A" "" "" "" "PDLIM3(NM_014476.6):c.734C>T (p.T245I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506581G>A" "" "benign" "" "0000609150" "0" "30" "4" "186427772" "186427772" "subst" "0.000417335" "01943" "PDLIM3_010009" "g.186427772C>G" "" "" "" "PDLIM3(NM_014476.5):c.697G>C (p.V233L), PDLIM3(NM_014476.6):c.697G>C (p.V233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506618C>G" "" "likely benign" "" "0000609151" "0" "30" "4" "186427776" "186427776" "subst" "4.55098E-5" "02327" "PDLIM3_010036" "g.186427776C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185506622C>T" "" "likely benign" "" "0000609153" "0" "50" "4" "186429585" "186429585" "subst" "3.65456E-5" "02327" "PDLIM3_010038" "g.186429585T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185508431T>G" "" "VUS" "" "0000609154" "0" "50" "4" "186435412" "186435412" "subst" "4.06128E-6" "02327" "PDLIM3_010039" "g.186435412A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514258A>G" "" "VUS" "" "0000609155" "0" "30" "4" "186435435" "186435435" "subst" "0.00147421" "02327" "PDLIM3_000009" "g.186435435C>T" "" "" "" "PDLIM3(NM_014476.5):c.387G>A (p.P129=), PDLIM3(NM_014476.6):c.387G>A (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514281C>T" "" "likely benign" "" "0000609156" "0" "30" "4" "186435493" "186435493" "dup" "0" "02327" "PDLIM3_010041" "g.186435493dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514339dup" "" "likely benign" "" "0000609157" "0" "30" "4" "186435494" "186435495" "ins" "0" "02327" "PDLIM3_010042" "g.186435494_186435495insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514340_185514341insA" "" "likely benign" "" "0000609158" "0" "30" "4" "186444600" "186444600" "subst" "0.000266553" "02327" "PDLIM3_010014" "g.186444600C>T" "" "" "" "PDLIM3(NM_014476.6):c.246G>A (p.R82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185523446C>T" "" "likely benign" "" "0000609159" "0" "30" "4" "186444614" "186444618" "del" "0" "02327" "PDLIM3_010027" "g.186444614_186444618del" "" "" "" "PDLIM3(NM_014476.6):c.246-9_246-5delTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185523460_185523464del" "" "likely benign" "" "0000609160" "0" "30" "4" "186446224" "186446224" "subst" "0.000780057" "01943" "PDLIM3_000008" "g.186446224C>T" "" "" "" "PDLIM3(NM_014476.5):c.195G>A (p.A65=), PDLIM3(NM_014476.6):c.195G>A (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185525070C>T" "" "likely benign" "" "0000609161" "0" "30" "4" "186446251" "186446251" "subst" "2.84393E-5" "01943" "PDLIM3_010043" "g.186446251C>T" "" "" "" "PDLIM3(NM_014476.5):c.168G>A (p.G56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185525097C>T" "" "likely benign" "" "0000609162" "0" "30" "4" "186446257" "186446257" "subst" "0.00796359" "02327" "PDLIM3_000007" "g.186446257G>A" "" "" "" "PDLIM3(NM_014476.5):c.162C>T (p.G54=), PDLIM3(NM_014476.6):c.162C>T (p.G54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185525103G>A" "" "likely benign" "" "0000609163" "0" "50" "4" "186456547" "186456547" "subst" "0.00543594" "02327" "PDLIM3_000005" "g.186456547G>A" "" "" "" "PDLIM3(NM_014476.5):c.42C>T (p.G14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185535393G>A" "" "VUS" "" "0000621382" "0" "30" "4" "186435447" "186435447" "subst" "4.87325E-5" "01943" "PDLIM3_010040" "g.186435447A>G" "" "" "" "PDLIM3(NM_014476.5):c.375T>C (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514293A>G" "" "likely benign" "" "0000651456" "1" "50" "4" "186423617" "186423617" "subst" "7.31428E-5" "03575" "PDLIM3_010033" "g.186423617C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200273032}" "Germline" "" "rs200273032" "0" "" "" "g.185502463C>T" "" "VUS" "" "0000651457" "1" "10" "4" "186427735" "186427735" "subst" "0.0176946" "03575" "PDLIM3_000003" "g.186427735G>A" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs62347360}" "Germline" "" "rs62347360" "0" "" "" "g.185506581G>A" "" "benign" "" "0000651458" "1" "30" "4" "186456560" "186456560" "subst" "0.000502469" "03575" "PDLIM3_010044" "g.186456560G>A" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs146768859}" "Germline" "" "rs146768859" "0" "" "" "g.185535406G>A" "" "likely benign" "" "0000655129" "0" "30" "4" "186425640" "186425640" "subst" "8.12401E-6" "02326" "PDLIM3_010045" "g.186425640C>G" "" "" "" "PDLIM3(NM_014476.6):c.894G>C (p.G298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185504486C>G" "" "likely benign" "" "0000655130" "0" "30" "4" "186435475" "186435475" "subst" "0" "01943" "PDLIM3_010046" "g.186435475T>C" "" "" "" "PDLIM3(NM_014476.5):c.347A>G (p.E116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185514321T>C" "" "likely benign" "" "0000689272" "0" "30" "4" "186427660" "186427660" "subst" "4.07209E-6" "02326" "PDLIM3_010047" "g.186427660G>C" "" "" "" "PDLIM3(NM_014476.6):c.793+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689273" "0" "10" "4" "186427822" "186427822" "subst" "0.00135947" "02326" "PDLIM3_010048" "g.186427822G>A" "" "" "" "PDLIM3(NM_014476.6):c.663-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689274" "0" "30" "4" "186446250" "186446250" "subst" "0.00031283" "01943" "PDLIM3_010016" "g.186446250T>C" "" "" "" "PDLIM3(NM_014476.5):c.169A>G (p.T57A), PDLIM3(NM_014476.6):c.169A>G (p.T57A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689275" "0" "30" "4" "186446260" "186446260" "subst" "8.12625E-6" "01943" "PDLIM3_010049" "g.186446260G>A" "" "" "" "PDLIM3(NM_014476.5):c.159C>T (p.D53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801599" "0" "50" "4" "186425696" "186425696" "subst" "0" "02326" "PDLIM3_010050" "g.186425696T>G" "" "" "" "PDLIM3(NM_014476.6):c.838A>C (p.K280Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801600" "0" "30" "4" "186429734" "186429734" "subst" "6.129E-5" "02326" "PDLIM3_010051" "g.186429734C>T" "" "" "" "PDLIM3(NM_014476.6):c.399-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912095" "0" "10" "4" "186423637" "186423637" "subst" "0.788508" "02325" "PDLIM3_000012" "g.186423637G>A" "" "" "" "PDLIM3(NM_014476.6):c.906C>T (p.V302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948309" "0" "50" "4" "186423606" "186423606" "subst" "1.62479E-5" "02327" "PDLIM3_010052" "g.186423606G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PDLIM3 ## Count = 84 "{{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}}" "0000095297" "00015923" "50" "1027" "0" "1027" "0" "c.1027A>G" "r.(?)" "p.(Thr343Ala)" "" "0000095388" "00015923" "50" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Val183Leu)" "" "0000300689" "00015923" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Thr4Met)" "" "0000300690" "00015923" "10" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Gly54=)" "" "0000300691" "00015923" "30" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "" "0000300692" "00015923" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Ala65=)" "" "0000300693" "00015923" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Arg82=)" "" "0000300694" "00015923" "50" "317" "0" "317" "0" "c.317A>C" "r.(?)" "p.(Glu106Ala)" "" "0000300695" "00015923" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Met)" "" "0000300696" "00015923" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Pro129=)" "" "0000300697" "00015923" "30" "60" "0" "60" "0" "c.60C>A" "r.(?)" "p.(Gly20=)" "" "0000300698" "00015923" "30" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Val233Leu)" "" "0000300699" "00015923" "30" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "" "0000300700" "00015923" "50" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Pro268Leu)" "" "0000300701" "00015923" "50" "944" "0" "944" "0" "c.944C>G" "r.(?)" "p.(Pro315Arg)" "" "0000305409" "00015923" "10" "1107" "0" "1107" "0" "c.*12C>T" "r.(=)" "p.(=)" "" "0000305410" "00015923" "50" "1045" "0" "1045" "0" "c.1045A>C" "r.(?)" "p.(Thr349Pro)" "" "0000305411" "00015923" "10" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Gly54=)" "" "0000305412" "00015923" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Met)" "" "0000305413" "00015923" "10" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Gly14=)" "" "0000305414" "00015923" "30" "60" "0" "60" "0" "c.60C>A" "r.(?)" "p.(Gly20=)" "" "0000305415" "00015923" "10" "663" "-15" "663" "-15" "c.663-15G>A" "r.(=)" "p.(=)" "" "0000305416" "00015923" "30" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Gly331=)" "" "0000443225" "00015923" "10" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(=)" "1" "0000443226" "00015923" "10" "60" "0" "60" "0" "c.60C>A" "r.(?)" "p.(=)" "1" "0000443227" "00015923" "10" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(=)" "2" "0000443228" "00015923" "10" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(=)" "2" "0000443229" "00015923" "10" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(=)" "5" "0000443230" "00015923" "10" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(=)" "7" "0000443231" "00015923" "10" "735" "0" "735" "0" "c.735A>G" "r.(?)" "p.(=)" "7" "0000443232" "00015923" "10" "906" "0" "906" "0" "c.906C>T" "r.spl?" "p.(=)" "9" "0000443233" "00015923" "90" "177" "0" "178" "0" "c.177_178dup" "r.(?)" "p.(Met60Thrfs2*)" "2" "0000443234" "00015923" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Met)" "5" "0000443235" "00015923" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Met)" "5" "0000443236" "00015923" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "7" "0000443237" "00015923" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "7" "0000443238" "00015923" "50" "317" "0" "317" "0" "c.317A>C" "r.(?)" "p.(Glu106Ala)" "3" "0000522241" "00015923" "30" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Gly331=)" "" "0000522242" "00015923" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Gly283=)" "" "0000522243" "00015923" "30" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(His282Arg)" "" "0000522244" "00015923" "50" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Pro268Leu)" "" "0000522245" "00015923" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Leu256=)" "" "0000522246" "00015923" "10" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Ser226=)" "" "0000522247" "00015923" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Pro129=)" "" "0000522248" "00015923" "30" "331" "-16" "331" "-16" "c.331-16C>T" "r.(=)" "p.(=)" "" "0000522249" "00015923" "50" "331" "-448" "331" "-448" "c.331-448C>A" "r.(=)" "p.(=)" "" "0000522250" "00015923" "50" "331" "-464" "331" "-464" "c.331-464C>T" "r.(=)" "p.(=)" "" "0000522251" "00015923" "30" "246" "-9" "246" "-5" "c.246-9_246-5del" "r.spl?" "p.?" "" "0000522252" "00015923" "30" "78" "0" "78" "0" "c.78T>G" "r.(?)" "p.(Pro26=)" "" "0000522253" "00015923" "30" "54" "0" "54" "0" "c.54A>G" "r.(?)" "p.(Ser18=)" "" "0000609143" "00015923" "50" "1222" "0" "1222" "0" "c.*127C>G" "r.(=)" "p.(=)" "" "0000609144" "00015923" "50" "1146" "0" "1146" "0" "c.*51C>T" "r.(=)" "p.(=)" "" "0000609145" "00015923" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309Gln)" "" "0000609146" "00015923" "30" "906" "-18" "906" "-18" "c.906-18C>T" "r.(=)" "p.(=)" "" "0000609147" "00015923" "50" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Pro268Leu)" "" "0000609148" "00015923" "50" "793" "11" "793" "11" "c.793+11G>A" "r.(=)" "p.(=)" "" "0000609149" "00015923" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "" "0000609150" "00015923" "30" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Val233Leu)" "" "0000609151" "00015923" "30" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Ser231=)" "" "0000609153" "00015923" "50" "530" "0" "530" "0" "c.530A>C" "r.(?)" "p.(Glu177Ala)" "" "0000609154" "00015923" "50" "398" "12" "398" "12" "c.398+12T>C" "r.(=)" "p.(=)" "" "0000609155" "00015923" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Pro129=)" "" "0000609156" "00015923" "30" "331" "-2" "331" "-2" "c.331-2dup" "r.spl?" "p.?" "" "0000609157" "00015923" "30" "331" "-4" "331" "-3" "c.331-4_331-3insT" "r.spl?" "p.?" "" "0000609158" "00015923" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Arg82=)" "" "0000609159" "00015923" "30" "246" "-9" "246" "-5" "c.246-9_246-5del" "r.spl?" "p.?" "" "0000609160" "00015923" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Ala65=)" "" "0000609161" "00015923" "30" "168" "0" "168" "0" "c.168G>A" "r.(?)" "p.(Gly56=)" "" "0000609162" "00015923" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Gly54=)" "" "0000609163" "00015923" "50" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Gly14=)" "" "0000621382" "00015923" "30" "375" "0" "375" "0" "c.375T>C" "r.(?)" "p.(Pro125=)" "" "0000651456" "00015923" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309Gln)" "" "0000651457" "00015923" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "" "0000651458" "00015923" "30" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000655129" "00015923" "30" "894" "0" "894" "0" "c.894G>C" "r.(?)" "p.(Gly298=)" "" "0000655130" "00015923" "30" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Glu116Gly)" "" "0000689272" "00015923" "30" "793" "16" "793" "16" "c.793+16C>G" "r.(=)" "p.(=)" "" "0000689273" "00015923" "10" "663" "-16" "663" "-16" "c.663-16C>T" "r.(=)" "p.(=)" "" "0000689274" "00015923" "30" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "" "0000689275" "00015923" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Asp53=)" "" "0000801599" "00015923" "50" "838" "0" "838" "0" "c.838A>C" "r.(?)" "p.(Lys280Gln)" "" "0000801600" "00015923" "30" "399" "-18" "399" "-18" "c.399-18G>A" "r.(=)" "p.(=)" "" "0000912095" "00015923" "10" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Val302=)" "" "0000948309" "00015923" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000064231" "0000095297" "0000064253" "0000095388" "0000211627" "0000443225" "0000211628" "0000443226" "0000211629" "0000443227" "0000211630" "0000443228" "0000211631" "0000443229" "0000211632" "0000443230" "0000211633" "0000443231" "0000211634" "0000443232" "0000211635" "0000443233" "0000211635" "0000443235" "0000211635" "0000443237" "0000211636" "0000443234" "0000211637" "0000443236" "0000211638" "0000443238" "0000294767" "0000651456" "0000294768" "0000651457" "0000294769" "0000651458"