### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DTNA) # 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}}" "DTNA" "dystrobrevin, alpha" "18" "q12" "no" "NG_009201.1" "UD_132118899958" "" "https://www.LOVD.nl/DTNA" "Leiden Muscualr Dystrophy pages DTNA gene " "1" "3057" "1837" "601239" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/DTNA_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2001-11-30 00:00:00" "00006" "2018-01-14 21:23:55" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006731" "DTNA" "transcript variant 1" "011" "NM_001390.4" "" "NP_001381.2" "" "" "" "-1" "6342" "2232" "32335940" "32471808" "" "0000-00-00 00:00:00" "" "" "00025821" "DTNA" "transcript variant 44" "000" "NM_001386795.1" "" "NP_001373724.1" "" "" "" "-149" "6423" "2313" "32290262" "32471808" "00006" "2023-03-15 16:41:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02483" "LVNC1" "ventricular noncompaction, left, type 1 (LVNC-1)" "AD" "604169" "" "" "" "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" "04176" "Meniere" "Meniere disease" "" "156000" "" "" "" "00006" "2015-01-24 19:38:00" "00006" "2015-12-08 23:59:30" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DTNA" "02483" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00029650" "" "" "" "3" "" "00006" "{PMID:Requena 2015:25305078}, {DOI:Requena 2015:10.1093/hmg/ddu524}" "3-generation famil, 3 affected females (succesive generations)" "F" "no" "Spain" "" "0" "" "" "" "" "00064721" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "48y" "0" "" "" "" "" "00151378" "" "" "" "6" "" "00006" "{PMID:Ichida 2001:11238270}, {PMID:Xing 2006:16427346}" "4-generation family, 6 affecteds; 5 patients with congenital heart defects (CHD)" "" "" "Japan" "" "0" "" "" "" "" "00315499" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "21y" "" "" "" "Europe" "SUDS059" "00317740" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00329097" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "Germany" "28y" "0" "" "" "" "155435" "00433867" "" "" "" "5" "" "00006" "{PMID:Nascimento 2023:36799992}" "3-generation family, 5 affected (3F, 2M)" "M" "" "" "" "0" "" "" "" "FamAPatII2" "00433868" "" "" "00433867" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "sister" "F" "" "" "" "0" "" "" "" "FamAPatII4" "00433869" "" "" "00433867" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "sister" "F" "" "" "" "0" "" "" "" "FamAPatII7" "00433870" "" "" "00433867" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "son" "M" "" "" "" "0" "" "" "" "FamAPatIII1" "00433871" "" "" "00433867" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "daughter" "F" "" "" "" "0" "" "" "" "FamAPatIII2" "00433872" "" "" "" "5" "" "00006" "{PMID:Nascimento 2023:36799992}" "3-generation family, 5 affected (F, 4M)" "M" "" "" "" "0" "" "" "" "FamBPatI1" "00433873" "" "" "00433872" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "son" "M" "" "" "" "0" "" "" "" "FamBPatII4" "00433874" "" "" "00433872" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "grandson" "M" "" "" "" "0" "" "" "" "FamBPatIII1" "00433875" "" "" "00433872" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "grandson" "M" "" "" "" "0" "" "" "" "FamBPatIII3" "00433876" "" "" "" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "FamCPatII1" "00433877" "" "" "" "4" "" "00006" "{PMID:Nascimento 2023:36799992}" "3-generation family, 4 affected (4M)" "M" "" "" "" "0" "" "" "" "FamDPatII3" "00433878" "" "" "00433877" "1" "" "00006" "{PMID:Nascimento 2023:36799992}" "son" "M" "" "" "" "0" "" "" "" "FamDPatIII2" "00433879" "" "" "" "4" "" "00006" "{PMID:Malakootian 2022:35148685}" "2-generation family, 4 affected (2F, 2M)" "M" "" "Iran" "" "0" "" "" "" "FamPatIII5" "00453144" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam287Pat307" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00029650" "04176" "00064721" "05166" "00151378" "04173" "00315499" "05166" "00317740" "04172" "00329097" "02087" "00433867" "05121" "00433868" "05121" "00433869" "05121" "00433870" "05121" "00433871" "05121" "00433872" "05121" "00433873" "05121" "00433874" "05121" "00433875" "05121" "00433876" "05121" "00433877" "05121" "00433878" "05121" "00433879" "04203" "00453144" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02087, 02483, 04172, 04173, 04176, 04203, 05121, 05166 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000025673" "04176" "00029650" "00006" "Complex" "" "see paper; sensorineural hearingloss, tinnitus, episodic vertigo" "" "" "" "" "" "" "" "" "" "0000053248" "05166" "00064721" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000123772" "04173" "00151378" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000241486" "04172" "00317740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "0000247294" "02087" "00329097" "01164" "Unknown" "" "Sudden cardiac death" "" "" "" "" "" "" "" "" "" "0000322109" "05166" "00315499" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "0000324245" "05121" "00433867" "00006" "Familial, autosomal dominant" "55y" "creatine kinase 1780 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial and/or perimysial connective tissue; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324246" "05121" "00433868" "00006" "Familial, autosomal dominant" "51y" "creatine kinase 150–200 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324247" "05121" "00433869" "00006" "Familial, autosomal dominant" "49y" "creatine kinase 380 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324248" "05121" "00433870" "00006" "Familial, autosomal dominant" "24y" "creatine kinase 830–1590 (IU/L); no muscle weakness; myalgias; exercise intolerance; rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324249" "05121" "00433871" "00006" "Familial, autosomal dominant" "18y" "creatine kinase 490–3990 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324250" "05121" "00433872" "00006" "Familial, autosomal dominant" "70y-80y" "elevated creatine kinase; no muscle weakness; no myalgias; no exercise intolerance; learning delay" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324251" "05121" "00433873" "00006" "Familial, autosomal dominant" "40y-50y" "elevated creatine kinase; no muscle weakness; myalgias; no exercise intolerance; muscle biopsy internalized nuclei and focal areas of inflammation involving connective tissue, mild to moderate fiber atrophy without regeneration, findings suggested myositis; no cognitive impairment" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324252" "05121" "00433874" "00006" "Familial, autosomal dominant" "8y" "creatine kinase 3000–3500 (IU/L); muscle weakness; myalgias; exercise intolerance" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324253" "05121" "00433875" "00006" "Familial, autosomal dominant" "16y" "creatine kinase 4000–6000 (IU/L); 8y-muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy severe fiber size variation, striking patchy endomysial and perimysial inflammation, focal patchy aggregates of regenerating fibers, some of which contain vacuoles, inflammatory infiltrate composed of lymphocytes, significant numbers of eosinophils and rare neutrophils and is centered on myofibers as well as blood vessels; autism spectrum disorder, ADHD" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324254" "05121" "00433876" "00006" "Familial, autosomal dominant" "12y" "creatine kinase 8000 (IU/L); muscle weakness (hip adduction, hip extension); myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy mild myopathic features including internalized nuclei and type 1 fiber predominance; learning disability" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324255" "05121" "00433877" "00006" "Familial, autosomal dominant" "43y" "creatine kinase 388 (IU/L); no muscle weakness; no myalgias; no exercise intolerance" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324256" "05121" "00433878" "00006" "Familial, autosomal dominant" "8y" "creatine kinase 2500–5100 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy mild variation in fiber size, slight increase in internalized nuclei, focal rare endomysial lymphocytes and rare foci of myophagocytosis, small foci of basophilic regenerative fibers; autism spectrum disorder" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000324257" "04203" "00433879" "00006" "Familial, autosomal dominant" "" "see paper; ..., early onset atrial fibrillation" "" "" "" "" "" "" "" "ATFB" "atrial fibrillation" "0000341790" "04172" "00453144" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029693" "00029650" "1" "00006" "00006" "2015-01-24 19:53:23" "00006" "2015-01-24 20:31:04" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "lymphoblasts" "" "0000064860" "00064721" "1" "01601" "01601" "2016-05-10 12:20:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000152233" "00151378" "1" "00006" "00006" "2004-02-28 18:55:15" "00006" "2013-02-01 19:44:11" "SSCA;SEQ" "DNA" "" "" "0000316676" "00315499" "1" "01602" "01602" "2020-10-27 16:17:23" "01602" "2023-02-15 09:44:00" "SEQ-NG" "DNA" "" "" "0000318922" "00317740" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000330314" "00329097" "1" "01164" "01164" "2021-02-03 16:53:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000435330" "00433867" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435331" "00433868" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435332" "00433869" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435333" "00433870" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435334" "00433871" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435335" "00433872" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435336" "00433873" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435337" "00433874" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435338" "00433875" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435339" "00433876" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435340" "00433877" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435341" "00433878" "1" "00006" "00006" "2023-03-15 17:16:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435342" "00433879" "1" "00006" "00006" "2023-03-15 17:22:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454755" "00453144" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000029693" "DTNA" "0000029693" "FAM136A" "0000152233" "DTNA" "0000318922" "DTNA" "0000330314" "DTNA" ## 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 = 161 "{{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}}" "0000053078" "21" "70" "18" "32462094" "32462094" "subst" "3.65568E-5" "00006" "DTNA_000002" "g.32462094G>T" "" "{PMID:Requena 2015:25305078}, {DOI:Requena 2015:10.1093/hmg/ddu524}" "" "" "consequence of variant uncertain" "Germline" "yes" "" "0" "" "" "g.34882130G>T" "" "likely pathogenic" "" "0000096513" "0" "70" "18" "32374109" "32374109" "subst" "0" "01601" "DTNA_000003" "g.32374109C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.34794145C>T" "" "likely pathogenic" "" "0000245352" "1" "90" "18" "32374214" "32374214" "subst" "1.62665E-5" "00006" "DTNA_000001" "g.32374214C>T" "" "{PMID:Ichida 2001:11238270}, {PMID:Xing 2006:16427346}, {OMIM601239:0001}" "" "" "change not in 600 control chromosomes (400 Japan, 200 white)" "Germline" "" "" "0" "" "" "g.34794250C>T" "" "pathogenic" "" "0000249412" "0" "30" "18" "32374095" "32374095" "subst" "0.00259246" "02325" "DTNA_000013" "g.32374095A>G" "" "" "" "DTNA(NM_001198939.2):c.243A>G (p.L81=), DTNA(NM_001390.4):c.243A>G (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794131A>G" "" "likely benign" "" "0000249753" "0" "50" "18" "32374029" "32374029" "subst" "8.14014E-6" "02325" "DTNA_000008" "g.32374029A>G" "" "" "" "DTNA(NM_001198939.2):c.177A>G (p.I59M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794065A>G" "" "VUS" "" "0000251954" "0" "30" "18" "32374081" "32374081" "subst" "0.000109723" "02326" "DTNA_000010" "g.32374081A>G" "" "" "" "DTNA(NM_001198939.2):c.229A>G (p.N77D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794117A>G" "" "likely benign" "" "0000252664" "0" "50" "18" "32459599" "32459599" "subst" "0" "02326" "DTNA_000053" "g.32459599A>G" "" "" "" "DTNA(NM_001198939.2):c.1838A>G (p.E613G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879635A>G" "" "VUS" "" "0000267681" "0" "30" "18" "32407638" "32407638" "subst" "0" "02325" "DTNA_000025" "g.32407638G>A" "" "" "" "DTNA(NM_001198939.2):c.1083G>A (p.R361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34827674G>A" "" "likely benign" "" "0000267682" "0" "30" "18" "32418050" "32418050" "subst" "0.00279673" "02325" "DTNA_000029" "g.32418050T>C" "" "" "" "DTNA(NM_001198939.2):c.1086-10210T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34838086T>C" "" "likely benign" "" "0000267683" "0" "30" "18" "32409008" "32409008" "subst" "4.06223E-6" "02325" "DTNA_000026" "g.32409008G>C" "" "" "" "DTNA(NM_001392.5):c.1098G>C (p.S366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34829044G>C" "" "likely benign" "" "0000267684" "0" "30" "18" "32428317" "32428317" "subst" "0.000211351" "02325" "DTNA_000031" "g.32428317G>A" "" "" "" "DTNA(NM_001198939.2):c.1143G>A (p.A381=), DTNA(NM_001390.4):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34848353G>A" "" "likely benign" "" "0000267685" "0" "30" "18" "32431776" "32431776" "subst" "0.000696254" "02325" "DTNA_000032" "g.32431776T>C" "" "" "" "DTNA(NM_001198939.2):c.1174-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34851812T>C" "" "likely benign" "" "0000267686" "0" "30" "18" "32345983" "32345983" "subst" "6.5029E-5" "02325" "DTNA_000005" "g.32345983G>A" "" "" "" "DTNA(NM_001198939.2):c.126G>A (p.R42=), DTNA(NM_001390.4):c.126G>A (p.R42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34766019G>A" "" "likely benign" "" "0000267687" "0" "10" "18" "32444040" "32444040" "subst" "0.293118" "02325" "DTNA_000037" "g.32444040G>A" "" "" "" "DTNA(NM_001198939.2):c.1482+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34864076G>A" "" "benign" "" "0000267688" "0" "30" "18" "32446055" "32446055" "subst" "4.0627E-6" "02325" "DTNA_000038" "g.32446055T>C" "" "" "" "DTNA(NM_001198939.2):c.1483-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34866091T>C" "" "likely benign" "" "0000267689" "0" "30" "18" "32455193" "32455193" "subst" "0.00190747" "02325" "DTNA_000040" "g.32455193G>T" "" "" "" "DTNA(NM_001198939.1):c.1504-10G>T, DTNA(NM_001198939.2):c.1504-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875229G>T" "" "likely benign" "" "0000267690" "0" "50" "18" "32455224" "32455224" "subst" "1.6271E-5" "02325" "DTNA_000041" "g.32455224C>T" "" "" "" "DTNA(NM_001198939.2):c.1525C>T (p.R509C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875260C>T" "" "VUS" "" "0000267691" "0" "50" "18" "32374005" "32374005" "subst" "4.08057E-6" "02325" "DTNA_000006" "g.32374005C>G" "" "" "" "DTNA(NM_001198939.2):c.153C>G (p.H51Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794041C>G" "" "VUS" "" "0000267692" "0" "30" "18" "32455280" "32455280" "subst" "0.002564" "02325" "DTNA_000042" "g.32455280G>A" "" "" "" "DTNA(NM_001198939.2):c.1581G>A (p.A527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875316G>A" "" "likely benign" "" "0000267693" "0" "50" "18" "32455297" "32455297" "subst" "0.000138161" "02325" "DTNA_000043" "g.32455297C>T" "" "" "" "DTNA(NM_001198939.2):c.1598C>T (p.P533L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875333C>T" "" "VUS" "" "0000267694" "0" "30" "18" "32455309" "32455309" "subst" "1.62542E-5" "02325" "DTNA_000044" "g.32455309C>T" "" "" "" "DTNA(NM_001198939.2):c.1610C>T (p.P537L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875345C>T" "" "likely benign" "" "0000267695" "0" "10" "18" "32455370" "32455370" "subst" "0.00321803" "02325" "DTNA_000045" "g.32455370G>A" "" "" "" "DTNA(NM_001198939.2):c.1663+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875406G>A" "" "benign" "" "0000267696" "0" "30" "18" "32457697" "32457697" "subst" "0.000125933" "02325" "DTNA_000047" "g.32457697T>C" "" "" "" "DTNA(NM_001198939.2):c.1678T>C (p.L560=), DTNA(NM_032975.3):c.1666T>C (p.L556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34877733T>C" "" "likely benign" "" "0000267697" "0" "50" "18" "32374028" "32374028" "subst" "1.22106E-5" "02325" "DTNA_000007" "g.32374028T>C" "" "" "" "DTNA(NM_001198939.2):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794064T>C" "" "VUS" "" "0000267698" "0" "30" "18" "32459560" "32459560" "subst" "0.000158408" "02325" "DTNA_000048" "g.32459560G>A" "" "" "" "DTNA(NM_001198939.2):c.1799G>A (p.R600Q), DTNA(NM_001390.4):c.1958G>A (p.R653Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879596G>A" "" "likely benign" "" "0000267699" "0" "30" "18" "32459678" "32459678" "subst" "2.43766E-5" "02325" "DTNA_000049" "g.32459678C>T" "" "" "" "DTNA(NM_001198939.2):c.1917C>T (p.G639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879714C>T" "" "likely benign" "" "0000267700" "0" "30" "18" "32459697" "32459697" "subst" "0.00734624" "02325" "DTNA_000050" "g.32459697G>A" "" "" "" "DTNA(NM_001198939.2):c.1922+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879733G>A" "" "likely benign" "" "0000267701" "0" "50" "18" "32470277" "32470277" "subst" "1.51382E-5" "02325" "DTNA_000051" "g.32470277C>G" "" "" "" "DTNA(NM_001198938.2):c.2048C>G (p.T683S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34890313C>G" "" "VUS" "" "0000267702" "0" "10" "18" "32470291" "32470291" "subst" "0.201716" "02325" "DTNA_000052" "g.32470291G>A" "" "" "" "DTNA(NM_001198938.2):c.2062G>A (p.E688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34890327G>A" "" "benign" "" "0000267703" "0" "30" "18" "32374062" "32374062" "subst" "0.00448472" "02325" "DTNA_000009" "g.32374062G>A" "" "" "" "DTNA(NM_001198939.2):c.210G>A (p.L70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794098G>A" "" "likely benign" "" "0000267704" "0" "30" "18" "32374083" "32374083" "subst" "0.00123953" "02325" "DTNA_000011" "g.32374083C>T" "" "" "" "DTNA(NM_001198939.2):c.231C>T (p.N77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794119C>T" "" "likely benign" "" "0000267705" "0" "50" "18" "32374091" "32374091" "subst" "5.68972E-5" "02325" "DTNA_000012" "g.32374091G>A" "" "" "" "DTNA(NM_001198939.2):c.239G>A (p.R80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794127G>A" "" "VUS" "" "0000267706" "0" "30" "18" "32374206" "32374206" "subst" "8.13206E-6" "02325" "DTNA_000014" "g.32374206G>A" "" "" "" "DTNA(NM_001198939.2):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794242G>A" "" "likely benign" "" "0000267707" "0" "30" "18" "32391956" "32391956" "subst" "4.8792E-5" "02325" "DTNA_000015" "g.32391956T>C" "" "" "" "DTNA(NM_001198939.2):c.482T>C (p.V161A), DTNA(NM_001390.4):c.482T>C (p.V161A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34811992T>C" "" "likely benign" "" "0000267708" "0" "30" "18" "32392011" "32392011" "subst" "0.00223234" "02325" "DTNA_000016" "g.32392011G>T" "" "" "" "DTNA(NM_001198939.2):c.537G>T (p.T179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34812047G>T" "" "likely benign" "" "0000267709" "0" "50" "18" "32398202" "32398202" "subst" "2.84331E-5" "02325" "DTNA_000019" "g.32398202C>T" "" "" "" "DTNA(NM_001198939.2):c.784C>T (p.H262Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34818238C>T" "" "VUS" "" "0000267710" "0" "30" "18" "32400747" "32400747" "subst" "5.27992E-5" "02325" "DTNA_000020" "g.32400747C>G" "" "" "" "DTNA(NM_001198939.2):c.877-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34820783C>G" "" "likely benign" "" "0000267711" "0" "30" "18" "32345949" "32345949" "subst" "0.000569018" "02325" "DTNA_000004" "g.32345949G>A" "" "" "" "DTNA(NM_001198939.2):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34765985G>A" "" "likely benign" "" "0000267712" "0" "30" "18" "32400811" "32400811" "subst" "0.00211192" "02325" "DTNA_000021" "g.32400811C>T" "" "" "" "DTNA(NM_001198939.2):c.933C>T (p.S311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34820847C>T" "" "likely benign" "" "0000267713" "0" "30" "18" "32400856" "32400856" "subst" "2.43706E-5" "02325" "DTNA_000022" "g.32400856G>A" "" "" "" "DTNA(NM_001198939.2):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34820892G>A" "" "likely benign" "" "0000271015" "0" "10" "18" "32446154" "32446154" "subst" "0.0034727" "02326" "DTNA_000039" "g.32446154G>A" "" "" "" "DTNA(NM_032978.7):c.*29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34866190G>A" "" "benign" "" "0000271016" "0" "10" "18" "32400878" "32400878" "subst" "0.000950455" "02326" "DTNA_000023" "g.32400878G>A" "" "" "" "DTNA(NM_001198939.2):c.1000G>A (p.V334M), DTNA(NM_001390.4):c.1000G>A (p.V334I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34820914G>A" "" "benign" "" "0000271017" "0" "70" "18" "32407556" "32407556" "subst" "0" "02326" "DTNA_000024" "g.32407556G>C" "" "" "" "DTNA(NM_001198939.2):c.1002-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34827592G>C" "" "likely pathogenic" "" "0000271018" "0" "10" "18" "32431798" "32431798" "subst" "0.00140719" "02326" "DTNA_000033" "g.32431798C>A" "" "" "" "DTNA(NM_001198939.2):c.1177C>A (p.P393T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34851834C>A" "" "benign" "" "0000271019" "0" "30" "18" "32431801" "32431801" "subst" "0" "02326" "DTNA_000034" "g.32431801C>G" "" "" "" "DTNA(NM_001198939.2):c.1180C>G (p.P394A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34851837C>G" "" "likely benign" "" "0000271020" "0" "30" "18" "32418752" "32418752" "subst" "0.00140575" "02326" "DTNA_000030" "g.32418752C>T" "" "" "" "DTNA(NM_001390.4):c.1216C>T (p.H406Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34838788C>T" "" "likely benign" "" "0000271021" "0" "50" "18" "32443935" "32443935" "subst" "0.000104443" "02326" "DTNA_000036" "g.32443935G>A" "" "" "" "DTNA(NM_001198939.2):c.1391G>A (p.R464H), DTNA(NM_001390.4):c.1571G>A (p.R524H), DTNA(NM_001390.5):c.1571G>A (p.R524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34863971G>A" "" "VUS" "" "0000271022" "0" "10" "18" "32455193" "32455193" "subst" "0.00190747" "02326" "DTNA_000040" "g.32455193G>T" "" "" "" "DTNA(NM_001198939.1):c.1504-10G>T, DTNA(NM_001198939.2):c.1504-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875229G>T" "" "benign" "" "0000271023" "0" "10" "18" "32455370" "32455370" "subst" "0.00321803" "02326" "DTNA_000045" "g.32455370G>A" "" "" "" "DTNA(NM_001198939.2):c.1663+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34875406G>A" "" "benign" "" "0000271024" "0" "30" "18" "32457673" "32457673" "subst" "0" "02326" "DTNA_000046" "g.32457673T>C" "" "" "" "DTNA(NM_001198939.2):c.1664-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34877709T>C" "" "likely benign" "" "0000271025" "0" "30" "18" "32459560" "32459560" "subst" "0.000158408" "02326" "DTNA_000048" "g.32459560G>A" "" "" "" "DTNA(NM_001198939.2):c.1799G>A (p.R600Q), DTNA(NM_001390.4):c.1958G>A (p.R653Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879596G>A" "" "likely benign" "" "0000271026" "0" "30" "18" "32409417" "32409417" "subst" "0" "02326" "DTNA_000027" "g.32409417T>A" "" "" "" "DTNA(NM_001198942.1):c.185T>A (p.I62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34829453T>A" "" "likely benign" "" "0000271027" "0" "10" "18" "32459697" "32459697" "subst" "0.00734624" "02326" "DTNA_000050" "g.32459697G>A" "" "" "" "DTNA(NM_001198939.2):c.1922+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34879733G>A" "" "benign" "" "0000271028" "0" "10" "18" "32374062" "32374062" "subst" "0.00448472" "02326" "DTNA_000009" "g.32374062G>A" "" "" "" "DTNA(NM_001198939.2):c.210G>A (p.L70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34794098G>A" "" "benign" "" "0000271029" "0" "70" "18" "32409453" "32409453" "subst" "3.37479E-5" "02326" "DTNA_000028" "g.32409453G>A" "" "" "" "DTNA(NM_001198942.1):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34829489G>A" "" "likely pathogenic" "" "0000271030" "0" "50" "18" "32395883" "32395883" "subst" "0.000101547" "02326" "DTNA_000017" "g.32395883C>T" "" "" "" "DTNA(NM_001198939.2):c.614C>T (p.T205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34815919C>T" "" "VUS" "" "0000271031" "0" "30" "18" "32395986" "32395986" "subst" "0" "02326" "DTNA_000018" "g.32395986G>C" "" "" "" "DTNA(NM_001198939.2):c.709+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34816022G>C" "" "likely benign" "" "0000271032" "0" "50" "18" "32398202" "32398202" "subst" "2.84331E-5" "02326" "DTNA_000019" "g.32398202C>T" "" "" "" "DTNA(NM_001198939.2):c.784C>T (p.H262Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34818238C>T" "" "VUS" "" "0000271033" "0" "30" "18" "32400856" "32400856" "subst" "2.43706E-5" "02326" "DTNA_000022" "g.32400856G>A" "" "" "" "DTNA(NM_001198939.2):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34820892G>A" "" "likely benign" "" "0000564698" "0" "30" "18" "32374095" "32374095" "subst" "0.00259246" "01943" "DTNA_000013" "g.32374095A>G" "" "" "" "DTNA(NM_001198939.2):c.243A>G (p.L81=), DTNA(NM_001390.4):c.243A>G (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34794131A>G" "" "likely benign" "" "0000564699" "0" "30" "18" "32374168" "32374168" "subst" "0.000203179" "02326" "DTNA_000054" "g.32374168C>G" "" "" "" "DTNA(NM_001198939.2):c.316C>G (p.Q106E), DTNA(NM_001390.4):c.316C>G (p.Q106E), DTNA(NM_001390.5):c.316C>G (p.Q106E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34794204C>G" "" "likely benign" "" "0000564700" "0" "50" "18" "32386218" "32386218" "subst" "0" "02326" "DTNA_000055" "g.32386218A>T" "" "" "" "DTNA(NM_001198939.2):c.398A>T (p.K133I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34806254A>T" "" "VUS" "" "0000564701" "0" "50" "18" "32392036" "32392036" "subst" "0" "02326" "DTNA_000056" "g.32392036G>A" "" "" "" "DTNA(NM_001198939.2):c.562G>A (p.G188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34812072G>A" "" "VUS" "" "0000564702" "0" "30" "18" "32392092" "32392092" "subst" "6.93176E-5" "02325" "DTNA_000057" "g.32392092T>C" "" "" "" "DTNA(NM_001198939.2):c.603+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34812128T>C" "" "likely benign" "" "0000564703" "0" "30" "18" "32395859" "32395859" "subst" "0.00141465" "02325" "DTNA_000058" "g.32395859G>T" "" "" "" "DTNA(NM_001198939.2):c.604-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815895G>T" "" "likely benign" "" "0000564704" "0" "10" "18" "32395859" "32395859" "subst" "0.00141465" "02326" "DTNA_000058" "g.32395859G>T" "" "" "" "DTNA(NM_001198939.2):c.604-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815895G>T" "" "benign" "" "0000564705" "0" "50" "18" "32400815" "32400815" "subst" "3.65562E-5" "02325" "DTNA_000059" "g.32400815C>T" "" "" "" "DTNA(NM_001198939.2):c.937C>T (p.R313C), DTNA(NM_001390.4):c.937C>T (p.R313C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34820851C>T" "" "VUS" "" "0000564706" "0" "30" "18" "32400878" "32400878" "subst" "0.000950455" "01943" "DTNA_000023" "g.32400878G>A" "" "" "" "DTNA(NM_001198939.2):c.1000G>A (p.V334M), DTNA(NM_001390.4):c.1000G>A (p.V334I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34820914G>A" "" "likely benign" "" "0000564707" "0" "30" "18" "32400878" "32400878" "subst" "0.000950455" "02325" "DTNA_000023" "g.32400878G>A" "" "" "" "DTNA(NM_001198939.2):c.1000G>A (p.V334M), DTNA(NM_001390.4):c.1000G>A (p.V334I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34820914G>A" "" "likely benign" "" "0000564708" "0" "50" "18" "32407562" "32407562" "subst" "0" "02325" "DTNA_000060" "g.32407562C>T" "" "" "" "DTNA(NM_001198939.2):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34827598C>T" "" "VUS" "" "0000564709" "0" "50" "18" "32407562" "32407562" "subst" "0" "02326" "DTNA_000060" "g.32407562C>T" "" "" "" "DTNA(NM_001198939.2):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34827598C>T" "" "VUS" "" "0000564710" "0" "50" "18" "32409040" "32409040" "subst" "0" "02325" "DTNA_000061" "g.32409040A>G" "" "" "" "DTNA(NM_001392.5):c.*5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829076A>G" "" "VUS" "" "0000564711" "0" "30" "18" "32409408" "32409408" "subst" "0" "02326" "DTNA_000062" "g.32409408A>G" "" "" "" "DTNA(NM_001198942.1):c.176A>G (p.H59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829444A>G" "" "likely benign" "" "0000564712" "0" "30" "18" "32409427" "32409427" "subst" "0.000415154" "02325" "DTNA_000063" "g.32409427C>T" "" "" "" "DTNA(NM_001198942.1):c.195C>T (p.Y65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829463C>T" "" "likely benign" "" "0000564713" "0" "30" "18" "32409445" "32409445" "subst" "0.000165895" "02326" "DTNA_000064" "g.32409445C>T" "" "" "" "DTNA(NM_001198942.1):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829481C>T" "" "likely benign" "" "0000564714" "0" "30" "18" "32418752" "32418752" "subst" "0.00140575" "01943" "DTNA_000030" "g.32418752C>T" "" "" "" "DTNA(NM_001390.4):c.1216C>T (p.H406Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34838788C>T" "" "likely benign" "" "0000564715" "0" "30" "18" "32428344" "32428344" "subst" "2.43938E-5" "02325" "DTNA_000065" "g.32428344G>A" "" "" "" "DTNA(NM_001198939.2):c.1170G>A (p.S390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34848380G>A" "" "likely benign" "" "0000564716" "0" "10" "18" "32431776" "32431776" "subst" "0.000696254" "02326" "DTNA_000032" "g.32431776T>C" "" "" "" "DTNA(NM_001198939.2):c.1174-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34851812T>C" "" "benign" "" "0000564717" "0" "50" "18" "32443935" "32443935" "subst" "0.000104443" "01943" "DTNA_000036" "g.32443935G>A" "" "" "" "DTNA(NM_001198939.2):c.1391G>A (p.R464H), DTNA(NM_001390.4):c.1571G>A (p.R524H), DTNA(NM_001390.5):c.1571G>A (p.R524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34863971G>A" "" "VUS" "" "0000564718" "0" "30" "18" "32455193" "32455193" "subst" "0.00190747" "01943" "DTNA_000040" "g.32455193G>T" "" "" "" "DTNA(NM_001198939.1):c.1504-10G>T, DTNA(NM_001198939.2):c.1504-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875229G>T" "" "likely benign" "" "0000564719" "0" "30" "18" "32455195" "32455195" "subst" "1.22003E-5" "02325" "DTNA_000066" "g.32455195C>T" "" "" "" "DTNA(NM_001198939.2):c.1504-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875231C>T" "" "likely benign" "" "0000564720" "0" "10" "18" "32457779" "32457779" "subst" "0.000983396" "02326" "DTNA_000067" "g.32457779T>C" "" "" "" "DTNA(NM_001198939.2):c.1753+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34877815T>C" "" "benign" "" "0000564721" "0" "50" "18" "32462038" "32462038" "subst" "2.84361E-5" "02326" "DTNA_000068" "g.32462038C>T" "" "" "" "DTNA(NM_001198939.2):c.1928C>T (p.T643M), DTNA(NM_001390.5):c.2087C>T (p.T696M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34882074C>T" "" "VUS" "" "0000617108" "0" "30" "18" "32335991" "32335991" "subst" "0.000276823" "02327" "DTNA_000069" "g.32335991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34756027G>A" "" "likely benign" "" "0000617109" "0" "30" "18" "32345917" "32345918" "ins" "0" "02327" "DTNA_000070" "g.32345917_32345918insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34765953_34765954insT" "" "likely benign" "" "0000617110" "0" "10" "18" "32374095" "32374095" "subst" "0.00259246" "02327" "DTNA_000013" "g.32374095A>G" "" "" "" "DTNA(NM_001198939.2):c.243A>G (p.L81=), DTNA(NM_001390.4):c.243A>G (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34794131A>G" "" "benign" "" "0000617111" "0" "30" "18" "32374182" "32374182" "subst" "4.06385E-6" "01943" "DTNA_000071" "g.32374182C>T" "" "" "" "DTNA(NM_001390.4):c.330C>T (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34794218C>T" "" "likely benign" "" "0000617112" "0" "30" "18" "32395857" "32395857" "subst" "0" "02327" "DTNA_000072" "g.32395857G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815893G>T" "" "likely benign" "" "0000617113" "0" "30" "18" "32395859" "32395859" "subst" "0.00141465" "02327" "DTNA_000058" "g.32395859G>T" "" "" "" "DTNA(NM_001198939.2):c.604-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815895G>T" "" "likely benign" "" "0000617114" "0" "30" "18" "32395905" "32395905" "subst" "4.06187E-6" "02327" "DTNA_000073" "g.32395905G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815941G>T" "" "likely benign" "" "0000617115" "0" "30" "18" "32398138" "32398138" "subst" "1.21851E-5" "02327" "DTNA_000074" "g.32398138G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34818174G>A" "" "likely benign" "" "0000617116" "0" "50" "18" "32400815" "32400815" "subst" "3.65562E-5" "01943" "DTNA_000059" "g.32400815C>T" "" "" "" "DTNA(NM_001198939.2):c.937C>T (p.R313C), DTNA(NM_001390.4):c.937C>T (p.R313C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34820851C>T" "" "VUS" "" "0000617117" "0" "30" "18" "32409011" "32409011" "subst" "1.21863E-5" "02327" "DTNA_000075" "g.32409011C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829047C>T" "" "likely benign" "" "0000617118" "0" "30" "18" "32409427" "32409427" "subst" "0.000415154" "02327" "DTNA_000063" "g.32409427C>T" "" "" "" "DTNA(NM_001198942.1):c.195C>T (p.Y65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34829463C>T" "" "likely benign" "" "0000617119" "0" "50" "18" "32418681" "32418681" "subst" "7.31428E-5" "02327" "DTNA_000076" "g.32418681C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34838717C>T" "" "VUS" "" "0000617120" "0" "50" "18" "32443935" "32443935" "subst" "0.000104443" "02325" "DTNA_000036" "g.32443935G>A" "" "" "" "DTNA(NM_001198939.2):c.1391G>A (p.R464H), DTNA(NM_001390.4):c.1571G>A (p.R524H), DTNA(NM_001390.5):c.1571G>A (p.R524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34863971G>A" "" "VUS" "" "0000617121" "0" "30" "18" "32455225" "32455225" "subst" "0.000183213" "02326" "DTNA_000078" "g.32455225G>A" "" "" "" "DTNA(NM_001198939.2):c.1526G>A (p.R509H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875261G>A" "" "likely benign" "" "0000617122" "0" "30" "18" "32455230" "32455230" "subst" "0.00160274" "02327" "DTNA_000079" "g.32455230T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875266T>C" "" "likely benign" "" "0000617123" "0" "30" "18" "32455334" "32455334" "subst" "0.000463415" "01943" "DTNA_000080" "g.32455334G>A" "" "" "" "DTNA(NM_001390.4):c.1794G>A (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875370G>A" "" "likely benign" "" "0000617124" "0" "10" "18" "32455370" "32455370" "subst" "0.00321803" "02327" "DTNA_000045" "g.32455370G>A" "" "" "" "DTNA(NM_001198939.2):c.1663+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34875406G>A" "" "benign" "" "0000617125" "0" "50" "18" "32462146" "32462146" "subst" "8.12665E-6" "02327" "DTNA_000081" "g.32462146T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34882182T>C" "" "VUS" "" "0000617126" "0" "50" "18" "32469734" "32469734" "subst" "0" "02327" "DTNA_000082" "g.32469734C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34889770C>G" "" "VUS" "" "0000617127" "0" "50" "18" "32471075" "32471075" "subst" "0" "02327" "DTNA_000083" "g.32471075C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34891111C>T" "" "VUS" "" "0000623842" "0" "30" "18" "32431909" "32431909" "subst" "1.22236E-5" "02326" "DTNA_000077" "g.32431909G>A" "" "" "" "DTNA(NM_001198939.2):c.1271+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34851945G>A" "" "likely benign" "" "0000658355" "0" "50" "18" "32374111" "32374111" "subst" "4.06312E-6" "02325" "DTNA_000084" "g.32374111A>G" "" "" "" "DTNA(NM_001198939.2):c.259A>G (p.T87A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34794147A>G" "" "VUS" "" "0000658356" "0" "30" "18" "32391956" "32391956" "subst" "4.8792E-5" "01943" "DTNA_000015" "g.32391956T>C" "" "" "" "DTNA(NM_001198939.2):c.482T>C (p.V161A), DTNA(NM_001390.4):c.482T>C (p.V161A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34811992T>C" "" "likely benign" "" "0000658357" "0" "30" "18" "32392011" "32392011" "subst" "5.28606E-5" "01943" "DTNA_000085" "g.32392011G>A" "" "" "" "DTNA(NM_001390.4):c.537G>A (p.T179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34812047G>A" "" "likely benign" "" "0000658358" "0" "50" "18" "32395883" "32395883" "subst" "0.000101547" "02325" "DTNA_000017" "g.32395883C>T" "" "" "" "DTNA(NM_001198939.2):c.614C>T (p.T205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34815919C>T" "" "VUS" "" "0000658359" "0" "50" "18" "32407564" "32407564" "subst" "0" "02325" "DTNA_000086" "g.32407564A>G" "" "" "" "DTNA(NM_001198939.2):c.1009A>G (p.R337G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34827600A>G" "" "VUS" "" "0000658360" "0" "50" "18" "32443954" "32443954" "subst" "1.64614E-5" "02325" "DTNA_000087" "g.32443954G>C" "" "" "" "DTNA(NM_001198939.2):c.1410G>C (p.Q470H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34863990G>C" "" "VUS" "" "0000692583" "0" "30" "18" "32345983" "32345983" "subst" "6.5029E-5" "01943" "DTNA_000005" "g.32345983G>A" "" "" "" "DTNA(NM_001198939.2):c.126G>A (p.R42=), DTNA(NM_001390.4):c.126G>A (p.R42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692584" "0" "30" "18" "32428317" "32428317" "subst" "0.000211351" "01943" "DTNA_000031" "g.32428317G>A" "" "" "" "DTNA(NM_001198939.2):c.1143G>A (p.A381=), DTNA(NM_001390.4):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692585" "0" "30" "18" "32428338" "32428338" "subst" "2.03254E-5" "02326" "DTNA_000088" "g.32428338C>A" "" "" "" "DTNA(NM_001198939.2):c.1164C>A (p.S388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692586" "0" "50" "18" "32455266" "32455266" "subst" "0" "02325" "DTNA_000089" "g.32455266C>T" "" "" "" "DTNA(NM_001390.5):c.1726C>T (p.P576S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692587" "0" "30" "18" "32455307" "32455307" "subst" "3.25103E-5" "01943" "DTNA_000090" "g.32455307G>A" "" "" "" "DTNA(NM_001390.4):c.1767G>A (p.T589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698838" "0" "90" "18" "32464701" "32464701" "subst" "0" "01602" "DTNA_000091" "g.32464701C>T" "" "{PMID:Neubauer 2021:33895855}" "" "" "AVMG PVS1, PM2, PP3" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000701528" "0" "50" "18" "32335957" "32335957" "subst" "0" "00006" "DTNA_000092" "g.32335957G>C" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.34755993G>C" "" "VUS" "" "0000714884" "0" "50" "18" "32443935" "32443935" "subst" "0.000104443" "01164" "DTNA_000036" "g.32443935G>A" "" "" "" "" "ACMG: PP3, BS2: class 3" "Germline" "?" "rs142108185" "" "" "" "" "" "VUS" "ACMG" "0000726870" "0" "30" "18" "32345983" "32345983" "subst" "6.5029E-5" "02326" "DTNA_000005" "g.32345983G>A" "" "" "" "DTNA(NM_001198939.2):c.126G>A (p.R42=), DTNA(NM_001390.4):c.126G>A (p.R42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726871" "0" "50" "18" "32374168" "32374168" "subst" "0.000203179" "01943" "DTNA_000054" "g.32374168C>G" "" "" "" "DTNA(NM_001198939.2):c.316C>G (p.Q106E), DTNA(NM_001390.4):c.316C>G (p.Q106E), DTNA(NM_001390.5):c.316C>G (p.Q106E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726872" "0" "30" "18" "32405227" "32405227" "subst" "0.000182799" "01943" "DTNA_000093" "g.32405227A>G" "" "" "" "DTNA(NM_001390.4):c.1002-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726873" "0" "50" "18" "32431844" "32431844" "subst" "4.06527E-6" "02325" "DTNA_000094" "g.32431844C>T" "" "" "" "DTNA(NM_001390.5):c.1403C>T (p.A468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726874" "0" "50" "18" "32462038" "32462038" "subst" "2.84361E-5" "02325" "DTNA_000068" "g.32462038C>T" "" "" "" "DTNA(NM_001198939.2):c.1928C>T (p.T643M), DTNA(NM_001390.5):c.2087C>T (p.T696M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808466" "0" "50" "18" "32259558" "32259558" "subst" "0" "02326" "DTNA_000095" "g.32259558T>G" "" "" "" "DTNA(NM_001198939.2):c.-2+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808467" "0" "50" "18" "32398204" "32398204" "subst" "4.06184E-6" "02325" "DTNA_000096" "g.32398204C>A" "" "" "" "DTNA(NM_001390.5):c.786C>A (p.H262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808468" "0" "30" "18" "32398247" "32398247" "subst" "2.43829E-5" "02326" "DTNA_000097" "g.32398247G>A" "" "" "" "DTNA(NM_032975.3):c.829G>A (p.G277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808469" "0" "50" "18" "32400833" "32400833" "subst" "0.000125912" "01943" "DTNA_000098" "g.32400833A>G" "" "" "" "DTNA(NM_001198942.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808470" "0" "50" "18" "32431840" "32431840" "subst" "8.5379E-5" "01943" "DTNA_000099" "g.32431840G>A" "" "" "" "DTNA(NM_001390.4):c.1399G>A (p.D467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855271" "0" "50" "18" "32345922" "32345922" "subst" "0" "02325" "DTNA_000100" "g.32345922T>A" "" "" "" "DTNA(NM_001390.5):c.68-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855272" "0" "30" "18" "32374168" "32374168" "subst" "0.000203179" "02325" "DTNA_000054" "g.32374168C>G" "" "" "" "DTNA(NM_001198939.2):c.316C>G (p.Q106E), DTNA(NM_001390.4):c.316C>G (p.Q106E), DTNA(NM_001390.5):c.316C>G (p.Q106E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855273" "0" "30" "18" "32400877" "32400877" "subst" "0.000662036" "01943" "DTNA_000101" "g.32400877C>T" "" "" "" "DTNA(NM_001390.4):c.999C>T (p.I333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855274" "0" "30" "18" "32457697" "32457697" "subst" "0.000125933" "02326" "DTNA_000047" "g.32457697T>C" "" "" "" "DTNA(NM_001198939.2):c.1678T>C (p.L560=), DTNA(NM_032975.3):c.1666T>C (p.L556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855275" "0" "30" "18" "32459539" "32459539" "subst" "0" "01943" "DTNA_000104" "g.32459539A>G" "" "" "" "DTNA(NM_001390.4):c.1937A>G (p.N646S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855276" "0" "30" "18" "32459560" "32459560" "subst" "0.000158408" "01943" "DTNA_000048" "g.32459560G>A" "" "" "" "DTNA(NM_001198939.2):c.1799G>A (p.R600Q), DTNA(NM_001390.4):c.1958G>A (p.R653Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855277" "0" "30" "18" "32459674" "32459674" "subst" "4.87496E-5" "01943" "DTNA_000105" "g.32459674G>A" "" "" "" "DTNA(NM_001390.4):c.2072G>A (p.R691H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865674" "0" "30" "18" "32407621" "32407621" "subst" "4.06223E-6" "01943" "DTNA_000102" "g.32407621A>G" "" "" "" "DTNA(NM_001390.4):c.1075A>G (p.S359G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865675" "0" "50" "18" "32438319" "32438319" "subst" "0" "02325" "DTNA_000103" "g.32438319G>T" "" "" "" "DTNA(NM_001390.5):c.1522G>T (p.A508S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915047" "0" "50" "18" "32470306" "32470306" "subst" "0" "02327" "DTNA_000106" "g.32470306G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921303" "0" "70" "18" "32443949" "32443949" "subst" "0" "00006" "DTNA_000109" "g.32443949G>A" "" "{PMID:Nascimento 2023:36799992}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.34863985G>A" "" "likely pathogenic (dominant)" "" "0000921304" "0" "70" "18" "32443949" "32443949" "subst" "0" "00006" "DTNA_000109" "g.32443949G>A" "" "{PMID:Nascimento 2023:36799992}" "" "" "" "Germline" "" "" "0" "" "" "g.34863985G>A" "" "likely pathogenic (dominant)" "" "0000921305" "0" "70" "18" "32443949" "32443949" "subst" "0" "00006" "DTNA_000109" "g.32443949G>A" "" "{PMID:Nascimento 2023:36799992}" "" "" "" "Germline" "" "" "0" "" "" "g.34863985G>A" "" "likely pathogenic (dominant)" "" "0000921306" "11" "70" "18" "32443949" "32443949" "subst" "0" "00006" "DTNA_000109" "g.32443949G>A" "" "{PMID:Nascimento 2023:36799992}" "" "" "" "Germline" "" "" "0" "" "" "g.34863985G>A" "" "likely pathogenic (dominant)" "" "0000921307" "11" "70" "18" "32443949" "32443949" "subst" "0" "00006" "DTNA_000109" "g.32443949G>A" "" "{PMID:Nascimento 2023:36799992}" "" "" "" "Germline" "" "" "0" "" "" "g.34863985G>A" "" "likely pathogenic (dominant)" "" "0000921308" "0" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921309" "11" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921310" "11" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921311" "11" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921312" "0" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921313" "11" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921314" "11" "70" "18" "32443934" "32443954" "del" "0" "00006" "DTNA_000108" "g.32443934_32443954del" "" "{PMID:Nascimento 2023:36799992}" "" "(Gln523_Glu529del)" "" "Germline" "" "" "0" "" "" "g.34863970_34863990del" "" "likely pathogenic (dominant)" "" "0000921315" "1" "70" "18" "32443975" "32443975" "subst" "0" "00006" "DTNA_000107" "g.32443975G>C" "" "{PMID:Malakootian 2022:35148685}" "" "NM_001198943.1:G681C" "" "Germline" "yes" "rs1477078144" "0" "" "" "g.34864011G>C" "" "likely pathogenic (dominant)" "" "0000926727" "0" "50" "18" "32455306" "32455306" "subst" "4.46995E-5" "02325" "DTNA_000110" "g.32455306C>T" "" "" "" "DTNA(NM_001390.5):c.1766C>T (p.T589M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989656" "0" "50" "18" "32391956" "32391956" "subst" "4.8792E-5" "02515" "DTNA_000015" "g.32391956T>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs199960642" "0" "" "" "g.34811992T>C" "" "VUS" "" "0001004069" "0" "50" "18" "32386223" "32386223" "subst" "0" "01804" "DTNA_000111" "g.32386223G>T" "" "" "" "DTNA(NM_032975.3):c.403G>T (p.(Ala135Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004070" "0" "50" "18" "32400855" "32400855" "subst" "0" "01804" "DTNA_000112" "g.32400855A>C" "" "" "" "DTNA(NM_032975.3):c.977A>C (p.(Lys326Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004071" "0" "30" "18" "32459679" "32459679" "subst" "2.03143E-5" "01804" "DTNA_000113" "g.32459679G>A" "" "" "" "DTNA(NM_032975.3):c.1906G>A (p.(Asp636Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049521" "0" "50" "18" "32374018" "32374018" "subst" "0" "03779" "DTNA_000114" "g.32374018T>C" "" "" "" "" "" "Unknown" "" "rs775875481" "0" "" "" "" "" "VUS" "" "0001059872" "0" "50" "18" "32374108" "32374108" "subst" "0" "03779" "DTNA_000115" "g.32374108T>C" "" "" "" "" "" "Unknown" "" "rs1000529425" "0" "" "" "" "" "VUS" "" "0001066969" "0" "50" "18" "32345933" "32345933" "subst" "0" "02325" "DTNA_000116" "g.32345933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066970" "0" "50" "18" "32398188" "32398188" "subst" "1.62481E-5" "02325" "DTNA_000117" "g.32398188G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066971" "0" "30" "18" "32455193" "32455193" "subst" "0.000317233" "02325" "DTNA_000118" "g.32455193G>A" "" "" "" "" "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 DTNA ## Count = 176 "{{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}}" "0000053078" "00006731" "70" "2143" "0" "2143" "0" "c.2143G>T" "r.[2143g>u, 2215_2263del]" "p.[Val715Phe, Val739Alafs{Val715Phe}]" "20" "0000096513" "00006731" "70" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ser86Phe)" "3" "0000245352" "00006731" "90" "362" "0" "362" "0" "c.362C>T" "r.spl?" "p.(Pro121Leu)" "4" "0000249412" "00006731" "30" "243" "0" "243" "0" "c.243A>G" "r.(?)" "p.(Leu81=)" "" "0000249753" "00006731" "50" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Ile59Met)" "" "0000251954" "00006731" "30" "229" "0" "229" "0" "c.229A>G" "r.(?)" "p.(Asn77Asp)" "" "0000252664" "00006731" "50" "1997" "0" "1997" "0" "c.1997A>G" "r.(?)" "p.(Glu666Gly)" "" "0000267681" "00006731" "30" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Arg364=)" "" "0000267682" "00006731" "30" "1095" "-8" "1095" "-8" "c.1095-8T>C" "r.(=)" "p.(=)" "" "0000267683" "00006731" "30" "1094" "1368" "1094" "1368" "c.1094+1368G>C" "r.(=)" "p.(=)" "" "0000267684" "00006731" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000267685" "00006731" "30" "1354" "-19" "1354" "-19" "c.1354-19T>C" "r.(=)" "p.(=)" "" "0000267686" "00006731" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Arg42=)" "" "0000267687" "00006731" "10" "1662" "14" "1662" "14" "c.1662+14G>A" "r.(=)" "p.(=)" "" "0000267688" "00006731" "30" "1662" "2029" "1662" "2029" "c.1662+2029T>C" "r.(=)" "p.(=)" "" "0000267689" "00006731" "30" "1663" "-10" "1663" "-10" "c.1663-10G>T" "r.(=)" "p.(=)" "" "0000267690" "00006731" "50" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Arg562Cys)" "" "0000267691" "00006731" "50" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(His51Gln)" "" "0000267692" "00006731" "30" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(Ala580=)" "" "0000267693" "00006731" "50" "1757" "0" "1757" "0" "c.1757C>T" "r.(?)" "p.(Pro586Leu)" "" "0000267694" "00006731" "30" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Pro590Leu)" "" "0000267695" "00006731" "10" "1822" "8" "1822" "8" "c.1822+8G>A" "r.(=)" "p.(=)" "" "0000267696" "00006731" "30" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Leu613=)" "" "0000267697" "00006731" "50" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000267698" "00006731" "30" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653Gln)" "" "0000267699" "00006731" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Gly692=)" "" "0000267700" "00006731" "30" "2081" "14" "2081" "14" "c.2081+14G>A" "r.(=)" "p.(=)" "" "0000267701" "00006731" "50" "4811" "0" "4811" "0" "c.*2579C>G" "r.(=)" "p.(=)" "" "0000267702" "00006731" "10" "4825" "0" "4825" "0" "c.*2593G>A" "r.(=)" "p.(=)" "" "0000267703" "00006731" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Leu70=)" "" "0000267704" "00006731" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Asn77=)" "" "0000267705" "00006731" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "" "0000267706" "00006731" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000267707" "00006731" "30" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Val161Ala)" "" "0000267708" "00006731" "30" "537" "0" "537" "0" "c.537G>T" "r.(?)" "p.(Thr179=)" "" "0000267709" "00006731" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(His262Tyr)" "" "0000267710" "00006731" "30" "877" "-8" "877" "-8" "c.877-8C>G" "r.(=)" "p.(=)" "" "0000267711" "00006731" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31Gln)" "" "0000267712" "00006731" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Ser311=)" "" "0000267713" "00006731" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000271015" "00006731" "10" "1662" "2128" "1662" "2128" "c.1662+2128G>A" "r.(=)" "p.(=)" "" "0000271016" "00006731" "10" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Ile)" "" "0000271017" "00006731" "70" "1011" "-1" "1011" "-1" "c.1011-1G>C" "r.spl?" "p.?" "" "0000271018" "00006731" "10" "1357" "0" "1357" "0" "c.1357C>A" "r.(?)" "p.(Pro453Thr)" "" "0000271019" "00006731" "30" "1360" "0" "1360" "0" "c.1360C>G" "r.(?)" "p.(Pro454Ala)" "" "0000271020" "00006731" "30" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(His406Tyr)" "" "0000271021" "00006731" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524His)" "" "0000271022" "00006731" "10" "1663" "-10" "1663" "-10" "c.1663-10G>T" "r.(=)" "p.(=)" "" "0000271023" "00006731" "10" "1822" "8" "1822" "8" "c.1822+8G>A" "r.(=)" "p.(=)" "" "0000271024" "00006731" "30" "1823" "-10" "1823" "-10" "c.1823-10T>C" "r.(=)" "p.(=)" "" "0000271025" "00006731" "30" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653Gln)" "" "0000271026" "00006731" "30" "1094" "1777" "1094" "1777" "c.1094+1777T>A" "r.(=)" "p.(=)" "" "0000271027" "00006731" "10" "2081" "14" "2081" "14" "c.2081+14G>A" "r.(=)" "p.(=)" "" "0000271028" "00006731" "10" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Leu70=)" "" "0000271029" "00006731" "70" "1094" "1813" "1094" "1813" "c.1094+1813G>A" "r.(=)" "p.(=)" "" "0000271030" "00006731" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0000271031" "00006731" "30" "709" "8" "709" "8" "c.709+8G>C" "r.(=)" "p.(=)" "" "0000271032" "00006731" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(His262Tyr)" "" "0000271033" "00006731" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000564698" "00006731" "30" "243" "0" "243" "0" "c.243A>G" "r.(?)" "p.(Leu81=)" "" "0000564699" "00006731" "30" "316" "0" "316" "0" "c.316C>G" "r.(?)" "p.(Gln106Glu)" "" "0000564700" "00006731" "50" "398" "0" "398" "0" "c.398A>T" "r.(?)" "p.(Lys133Ile)" "" "0000564701" "00006731" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0000564702" "00006731" "30" "603" "15" "603" "15" "c.603+15T>C" "r.(=)" "p.(=)" "" "0000564703" "00006731" "30" "604" "-14" "604" "-14" "c.604-14G>T" "r.(=)" "p.(=)" "" "0000564704" "00006731" "10" "604" "-14" "604" "-14" "c.604-14G>T" "r.(=)" "p.(=)" "" "0000564705" "00006731" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000564706" "00006731" "30" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Ile)" "" "0000564707" "00006731" "30" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Ile)" "" "0000564708" "00006731" "50" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Pro339Leu)" "" "0000564709" "00006731" "50" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Pro339Leu)" "" "0000564710" "00006731" "50" "1094" "1400" "1094" "1400" "c.1094+1400A>G" "r.(=)" "p.(=)" "" "0000564711" "00006731" "30" "1094" "1768" "1094" "1768" "c.1094+1768A>G" "r.(=)" "p.(=)" "" "0000564712" "00006731" "30" "1094" "1787" "1094" "1787" "c.1094+1787C>T" "r.(=)" "p.(=)" "" "0000564713" "00006731" "30" "1094" "1805" "1094" "1805" "c.1094+1805C>T" "r.(=)" "p.(=)" "" "0000564714" "00006731" "30" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(His406Tyr)" "" "0000564715" "00006731" "30" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Ser450=)" "" "0000564716" "00006731" "10" "1354" "-19" "1354" "-19" "c.1354-19T>C" "r.(=)" "p.(=)" "" "0000564717" "00006731" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524His)" "" "0000564718" "00006731" "30" "1663" "-10" "1663" "-10" "c.1663-10G>T" "r.(=)" "p.(=)" "" "0000564719" "00006731" "30" "1663" "-8" "1663" "-8" "c.1663-8C>T" "r.(=)" "p.(=)" "" "0000564720" "00006731" "10" "1912" "7" "1912" "7" "c.1912+7T>C" "r.(=)" "p.(=)" "" "0000564721" "00006731" "50" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Thr696Met)" "" "0000617108" "00006731" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Gln17=)" "" "0000617109" "00006731" "30" "68" "-8" "68" "-7" "c.68-8_68-7insT" "r.(=)" "p.(=)" "" "0000617110" "00006731" "10" "243" "0" "243" "0" "c.243A>G" "r.(?)" "p.(Leu81=)" "" "0000617111" "00006731" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Leu110=)" "" "0000617112" "00006731" "30" "604" "-16" "604" "-16" "c.604-16G>T" "r.(=)" "p.(=)" "" "0000617113" "00006731" "30" "604" "-14" "604" "-14" "c.604-14G>T" "r.(=)" "p.(=)" "" "0000617114" "00006731" "30" "636" "0" "636" "0" "c.636G>T" "r.(?)" "p.(Thr212=)" "" "0000617115" "00006731" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Pro240=)" "" "0000617116" "00006731" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000617117" "00006731" "30" "1094" "1371" "1094" "1371" "c.1094+1371C>T" "r.(=)" "p.(=)" "" "0000617118" "00006731" "30" "1094" "1787" "1094" "1787" "c.1094+1787C>T" "r.(=)" "p.(=)" "" "0000617119" "00006731" "50" "1173" "-28" "1173" "-28" "c.1173-28C>T" "r.(=)" "p.(=)" "" "0000617120" "00006731" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524His)" "" "0000617121" "00006731" "30" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562His)" "" "0000617122" "00006731" "30" "1690" "0" "1690" "0" "c.1690T>C" "r.(?)" "p.(Ser564Pro)" "" "0000617123" "00006731" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Gly598=)" "" "0000617124" "00006731" "10" "1822" "8" "1822" "8" "c.1822+8G>A" "r.(=)" "p.(=)" "" "0000617125" "00006731" "50" "2195" "0" "2195" "0" "c.2195T>C" "r.(?)" "p.(Leu732Pro)" "" "0000617126" "00006731" "50" "4268" "0" "4268" "0" "c.*2036C>G" "r.(=)" "p.(=)" "" "0000617127" "00006731" "50" "5609" "0" "5609" "0" "c.*3377C>T" "r.(=)" "p.(=)" "" "0000623842" "00006731" "30" "1451" "17" "1451" "17" "c.1451+17G>A" "r.(=)" "p.(=)" "" "0000658355" "00006731" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Thr87Ala)" "" "0000658356" "00006731" "30" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Val161Ala)" "" "0000658357" "00006731" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Thr179=)" "" "0000658358" "00006731" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0000658359" "00006731" "50" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Arg340Gly)" "" "0000658360" "00006731" "50" "1590" "0" "1590" "0" "c.1590G>C" "r.(?)" "p.(Gln530His)" "" "0000692583" "00006731" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Arg42=)" "" "0000692584" "00006731" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000692585" "00006731" "30" "1344" "0" "1344" "0" "c.1344C>A" "r.(?)" "p.(Ser448=)" "" "0000692586" "00006731" "50" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Pro576Ser)" "" "0000692587" "00006731" "30" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Thr589=)" "" "0000698838" "00006731" "90" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Gln742*)" "" "0000701528" "00006731" "50" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Gly6Ala)" "" "0000714884" "00006731" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524His)" "" "0000726870" "00006731" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Arg42=)" "" "0000726871" "00006731" "50" "316" "0" "316" "0" "c.316C>G" "r.(?)" "p.(Gln106Glu)" "" "0000726872" "00006731" "30" "1002" "-4" "1002" "-4" "c.1002-4A>G" "r.spl?" "p.?" "" "0000726873" "00006731" "50" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000726874" "00006731" "50" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Thr696Met)" "" "0000808466" "00006731" "50" "-76383" "0" "-76383" "0" "c.-76383T>G" "r.(?)" "p.(=)" "" "0000808467" "00006731" "50" "786" "0" "786" "0" "c.786C>A" "r.(?)" "p.(His262Gln)" "" "0000808468" "00006731" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000808469" "00006731" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Met319Val)" "" "0000808470" "00006731" "50" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000855271" "00006731" "50" "68" "-3" "68" "-3" "c.68-3T>A" "r.spl?" "p.?" "" "0000855271" "00025821" "50" "68" "-3" "68" "-3" "c.68-3T>A" "r.spl?" "p.?" "" "0000855272" "00006731" "30" "316" "0" "316" "0" "c.316C>G" "r.(?)" "p.(Gln106Glu)" "" "0000855273" "00006731" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ile333=)" "" "0000855273" "00025821" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ile333=)" "" "0000855274" "00006731" "30" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Leu613=)" "" "0000855275" "00006731" "30" "1937" "0" "1937" "0" "c.1937A>G" "r.(?)" "p.(Asn646Ser)" "" "0000855275" "00025821" "30" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Asn673Ser)" "" "0000855276" "00006731" "30" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653Gln)" "" "0000855277" "00006731" "30" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Arg691His)" "" "0000855277" "00025821" "30" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718His)" "" "0000865674" "00006731" "30" "1075" "0" "1075" "0" "c.1075A>G" "r.(?)" "p.(Ser359Gly)" "" "0000865674" "00025821" "30" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000865675" "00006731" "50" "1522" "0" "1522" "0" "c.1522G>T" "r.(?)" "p.(Ala508Ser)" "" "0000865675" "00025821" "50" "1603" "0" "1603" "0" "c.1603G>T" "r.(?)" "p.(Ala535Ser)" "" "0000915047" "00006731" "50" "4840" "0" "4840" "0" "c.*2608G>C" "r.(=)" "p.(=)" "" "0000915047" "00025821" "50" "4921" "0" "4921" "0" "c.*2608G>C" "r.(=)" "p.(=)" "" "0000921303" "00006731" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000921304" "00006731" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000921305" "00006731" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000921306" "00006731" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000921307" "00006731" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000921308" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921309" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921310" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921311" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921312" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921313" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921314" "00006731" "70" "1567" "0" "1587" "0" "c.1567_1587del" "r.(?)" "p.(Lys525_Arg531del)" "" "0000921315" "00006731" "70" "1611" "0" "1611" "0" "c.1611G>C" "r.(?)" "p.(Glu537Asp)" "" "0000921315" "00025821" "70" "1692" "0" "1692" "0" "c.1692G>C" "r.(?)" "p.(Glu564Asp)" "" "0000926727" "00006731" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Thr589Met)" "" "0000926727" "00025821" "50" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Thr616Met)" "" "0000989656" "00025821" "50" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Val161Ala)" "" "0001004069" "00006731" "50" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Ala135Ser)" "" "0001004069" "00025821" "50" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Ala135Ser)" "" "0001004070" "00006731" "50" "977" "0" "977" "0" "c.977A>C" "r.(?)" "p.(Lys326Thr)" "" "0001004070" "00025821" "50" "977" "0" "977" "0" "c.977A>C" "r.(?)" "p.(Lys326Thr)" "" "0001004071" "00006731" "30" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Asp693Asn)" "" "0001004071" "00025821" "30" "2158" "0" "2158" "0" "c.2158G>A" "r.(?)" "p.(Asp720Asn)" "" "0001049521" "00025821" "50" "166" "0" "166" "0" "c.166T>C" "r.(?)" "p.(Trp56Arg)" "" "0001059872" "00025821" "50" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Ser86Pro)" "" "0001066969" "00006731" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "0001066969" "00025821" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "0001066970" "00006731" "50" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257Gln)" "" "0001066970" "00025821" "50" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257Gln)" "" "0001066971" "00006731" "30" "1663" "-10" "1663" "-10" "c.1663-10G>A" "r.(=)" "p.(=)" "" "0001066971" "00025821" "30" "1744" "-10" "1744" "-10" "c.1744-10G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000029693" "0000053078" "0000064860" "0000096513" "0000152233" "0000245352" "0000316676" "0000698838" "0000318922" "0000701528" "0000330314" "0000714884" "0000435330" "0000921303" "0000435331" "0000921304" "0000435332" "0000921305" "0000435333" "0000921306" "0000435334" "0000921307" "0000435335" "0000921308" "0000435336" "0000921309" "0000435337" "0000921310" "0000435338" "0000921311" "0000435339" "0000921312" "0000435340" "0000921313" "0000435341" "0000921314" "0000435342" "0000921315" "0000454755" "0000989656"