### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELN) # 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}}" "ELN" "elastin" "7" "q11.1-q21.1" "unknown" "NG_009261.1" "UD_132119034488" "" "https://www.LOVD.nl/ELN" "" "1" "3327" "2006" "130160" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ELN_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2017-04-21 18:12:19" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001055" "ELN" "transcript variant 1" "003" "NM_000501.2" "" "NP_000492.2" "" "" "" "-91" "3382" "2175" "73442427" "73484237" "00000" "2012-09-13 13:10:11" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00923" "WBS" "Williams-Beuren syndrome (WBS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01274" "ADCL1" "cutis laxa, autosomal dominant, type 1 (ADCL-1)" "AD" "123700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01571" "SVAS" "aortic stenosis, supravalvar (SVAS)" "AD" "185500" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01609" "WBS" "Williams-Beuren syndrome" "AD" "194050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-24 17:26:01" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ELN" "00923" "ELN" "01274" "ELN" "01571" "ELN" "01609" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00029041" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "M" "no" "France" ">30y" "0" "yes" "" "European" "MC054" "00029042" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "F" "no" "France" ">42y" "0" "yes" "" "European" "MC132" "00029043" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "F" "no" "Portugal" ">41y" "0" "yes" "" "European" "MC176" "00029044" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "M" "yes" "Algeria" ">05y" "0" "yes" "" "Maghreb" "SPO199" "00103955" "" "" "" "1" "" "01961" "" "47,XXY diagnosed in antenatal" "M" "no" "France" "" "0" "" "" "" "" "00263436" "" "" "" "3" "" "03413" "" "" "F" "no" "Japan" "" "0" "" "" "" "" "00294495" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294496" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00398131" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat76" "00398132" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat77" "00398133" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat78" "00403887" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF033" "00438588" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0037" "00464533" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00029041" "00152" "00029042" "00152" "00029043" "00152" "00029044" "00152" "00103955" "00923" "00263436" "01571" "00294495" "00198" "00294496" "00198" "00398131" "00198" "00398132" "00198" "00398133" "00198" "00403887" "05611" "00438588" "06906" "00464533" "02294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00923, 01157, 01274, 01571, 01609, 02294, 05611, 06906 ## Count = 12 "{{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}}" "0000025073" "00152" "00029041" "01195" "Familial, autosomal dominant" "?" "pulmonary artery stenosis" "" "" "" "" "" "" "" "" "" "" "" "0000025075" "00152" "00029042" "01195" "Familial, autosomal dominant" "?" "hypoplastic aortic arch\r\npulmonary artery stenosis" "" "" "" "" "" "" "" "" "" "" "" "0000025077" "00152" "00029043" "01195" "Familial, autosomal dominant" "?" "pulmonary artery stenosis" "" "" "" "" "" "" "" "" "" "" "" "0000025078" "00152" "00029044" "01195" "Familial, autosomal dominant" "?" "pulmonary artery stenosis" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000081885" "00923" "00103955" "01961" "Isolated (sporadic)" "" "" "" "02y" "" "" "" "" "" "" "" "" "" "0000291241" "00198" "00398131" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291242" "00198" "00398132" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291243" "00198" "00398133" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000296567" "05611" "00403887" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000328491" "06906" "00438588" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000350532" "02294" "00464533" "04817" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vein of Galen aneurysmal malformation HP:0030713" "Vein of Galen aneurysmal malformation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000029085" "00029041" "1" "01195" "01195" "2015-01-19 17:24:29" "" "" "SEQ" "DNA" "blood" "" "0000029086" "00029042" "1" "01195" "01195" "2015-01-19 17:39:31" "" "" "SEQ" "DNA" "blood" "" "0000029087" "00029043" "1" "01195" "01195" "2015-01-19 17:52:39" "" "" "SEQ" "DNA" "blood" "" "0000029088" "00029044" "1" "01195" "01195" "2015-01-19 18:03:11" "" "" "SEQ" "DNA" "blood" "" "0000104414" "00103955" "1" "01961" "01961" "2017-04-25 10:58:20" "" "" "FISH" "DNA" "" "" "0000264547" "00263436" "1" "03413" "03413" "2019-08-30 03:50:01" "" "" "SEQ" "DNA" "" "" "0000295663" "00294495" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295664" "00294496" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000399374" "00398131" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399375" "00398132" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399376" "00398133" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000405125" "00403887" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000440070" "00438588" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000466171" "00464533" "1" "04817" "04817" "2025-03-25 11:50:39" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000029085" "ELN" "0000029085" "GATA4" "0000029085" "NKX2-5" "0000029085" "ZIC3" "0000029086" "ELN" "0000029086" "GATA4" "0000029086" "NKX2-5" "0000029086" "ZIC3" "0000029087" "ELN" "0000029087" "GATA4" "0000029087" "NKX2-5" "0000029087" "ZIC3" "0000029088" "ELN" "0000029088" "GATA4" "0000029088" "NKX2-5" "0000029088" "ZIC3" "0000104414" "ELN" "0000104414" "LAT2" "0000264547" "ELN" "0000399374" "ELN" "0000399375" "ELN" "0000399376" "ELN" "0000466171" "ELN" ## 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 = 289 "{{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}}" "0000012501" "3" "30" "7" "73457590" "73457590" "subst" "0" "00037" "ELN_000001" "g.73457590G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74043260G>C" "" "likely benign" "" "0000052436" "21" "70" "7" "73458231" "73458231" "subst" "0" "01195" "ELN_000005" "g.73458231C>A" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74043901C>A" "" "likely pathogenic" "" "0000052437" "0" "70" "7" "73442525" "73442525" "del" "0" "01195" "ELN_000004" "g.73442525del" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "8delG" "" "Germline" "yes" "" "0" "" "" "g.74028195del" "" "likely pathogenic" "" "0000052438" "0" "70" "7" "73442551" "73442551" "subst" "0" "01195" "ELN_000003" "g.73442551G>T" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74028221G>T" "" "likely pathogenic" "" "0000052439" "21" "70" "7" "73470745" "73470746" "ins" "0" "01195" "ELN_000002" "g.73470745_73470746insG" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74056415_74056416insG" "" "likely pathogenic" "" "0000169139" "0" "90" "7" "73428837" "73643684" "" "0" "01961" "ELN_000000" "g.(?_73428837)_(73643684_?)del" "" "" "" "g.73428837_73643684del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000249115" "0" "10" "7" "73472040" "73472040" "subst" "0.0588923" "02325" "ELN_000058" "g.73472040A>C" "" "" "" "ELN(NM_001278939.2):c.1501+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74057710A>C" "" "benign" "" "0000250217" "0" "10" "7" "73480258" "73480258" "subst" "0.0286003" "02329" "ELN_000077" "g.73480258A>G" "" "" "" "ELN(NM_000501.4):c.2033-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065928A>G" "" "benign" "" "0000253596" "0" "10" "7" "73472000" "73472000" "subst" "0.00118976" "01943" "ELN_000057" "g.73472000A>G" "" "" "" "ELN(NM_000501.3):c.1388A>G (p.K463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74057670A>G" "" "benign" "" "0000267807" "0" "10" "7" "73470714" "73470714" "subst" "0.322175" "02325" "ELN_000052" "g.73470714G>A" "" "" "" "ELN(NM_000501.4):c.1264G>A (p.G422S), ELN(NM_001278939.2):c.1264G>A (p.G422S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74056384G>A" "" "benign" "" "0000267808" "0" "10" "7" "73470782" "73470782" "subst" "0.788491" "02325" "ELN_000054" "g.73470782C>T" "" "" "" "ELN(NM_000501.4):c.1315+17C>T, ELN(NM_001278939.2):c.1315+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74056452C>T" "" "benign" "" "0000267809" "0" "30" "7" "73482987" "73482987" "subst" "0.00304675" "02325" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74068657G>A" "" "likely benign" "" "0000268807" "0" "30" "7" "73467544" "73467544" "subst" "4.06141E-6" "02329" "ELN_000030" "g.73467544T>C" "" "" "" "ELN(NM_000501.4):c.1001T>C (p.V334A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053214T>C" "" "likely benign" "" "0000268812" "0" "10" "7" "73467688" "73467689" "del" "0" "02329" "ELN_000036" "g.73467688_73467689del" "" "" "" "ELN(NM_000501.4):c.1096+49_1096+50delGT, ELN(NM_001278939.1):c.1096+49_1096+50delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053358_74053359del" "" "benign" "" "0000268813" "0" "10" "7" "73467688" "73467689" "dup" "0" "02329" "ELN_000035" "g.73467688_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+48_1096+49dupTG, ELN(NM_001278939.1):c.1096+48_1096+49dupTG, ELN(NM_001278939.2):c.1096+48_1096+49dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053358_74053359dup" "" "benign" "" "0000268814" "0" "10" "7" "73467686" "73467689" "del" "0" "02329" "ELN_000038" "g.73467686_73467689del" "" "" "" "ELN(NM_000501.3):c.1096+12_1096+15delTGTG, ELN(NM_000501.4):c.1096+47_1096+50delGTGT, ELN(NM_001278939.1):c.1096+47_1096+50delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053356_74053359del" "" "benign" "" "0000268816" "0" "10" "7" "73467684" "73467689" "del" "0" "02329" "ELN_000039" "g.73467684_73467689del" "" "" "" "ELN(NM_000501.4):c.1096+45_1096+50delGTGTGT, ELN(NM_001278939.1):c.1096+45_1096+50delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053354_74053359del" "" "benign" "" "0000268817" "0" "10" "7" "73467651" "73467652" "ins" "0" "02329" "ELN_000037" "g.73467651_73467652insTG" "" "" "" "ELN(NM_000501.4):c.1096+12_1096+13insTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053321_74053322insTG" "" "benign" "" "0000268826" "0" "10" "7" "73470714" "73470714" "subst" "0.322175" "02329" "ELN_000052" "g.73470714G>A" "" "" "" "ELN(NM_000501.4):c.1264G>A (p.G422S), ELN(NM_001278939.2):c.1264G>A (p.G422S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74056384G>A" "" "benign" "" "0000268827" "0" "30" "7" "73470749" "73470749" "subst" "4.06147E-5" "02329" "ELN_000053" "g.73470749G>A" "" "" "" "ELN(NM_000501.4):c.1299G>A (p.P433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74056419G>A" "" "likely benign" "" "0000268828" "0" "10" "7" "73470782" "73470782" "subst" "0.788491" "02329" "ELN_000054" "g.73470782C>T" "" "" "" "ELN(NM_000501.4):c.1315+17C>T, ELN(NM_001278939.2):c.1315+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74056452C>T" "" "benign" "" "0000268829" "0" "30" "7" "73449750" "73449750" "subst" "0" "02329" "ELN_000007" "g.73449750G>A" "" "" "" "ELN(NM_000501.4):c.133+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74035420G>A" "" "likely benign" "" "0000268830" "0" "10" "7" "73474367" "73474367" "subst" "0.00345631" "02329" "ELN_000063" "g.73474367T>A" "" "" "" "ELN(NM_000501.3):c.1566T>A (p.G522=), ELN(NM_000501.4):c.1566T>A (p.(Gly522=), p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060037T>A" "" "benign" "" "0000268831" "0" "10" "7" "73474825" "73474825" "subst" "0.070203" "02329" "ELN_000066" "g.73474825G>C" "" "" "" "ELN(NM_000501.4):c.1741G>C (p.G581R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060495G>C" "" "benign" "" "0000268832" "0" "30" "7" "73477625" "73477625" "subst" "1.25313E-5" "02329" "ELN_000070" "g.73477625G>A" "" "" "" "ELN(NM_000501.4):c.1859-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74063295G>A" "" "likely benign" "" "0000268833" "0" "30" "7" "73477642" "73477642" "subst" "0.0011495" "02329" "ELN_000071" "g.73477642G>A" "" "" "" "ELN(NM_000501.4):c.1861G>A (p.A621T), ELN(NM_001278939.1):c.2047G>A (p.A683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74063312G>A" "" "likely benign" "" "0000268834" "0" "30" "7" "73477690" "73477690" "subst" "2.78006E-5" "02329" "ELN_000073" "g.73477690G>T" "" "" "" "ELN(NM_000501.4):c.1909G>T (p.A637S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74063360G>T" "" "likely benign" "" "0000268835" "0" "30" "7" "73480017" "73480017" "subst" "0.000268221" "02329" "ELN_000075" "g.73480017T>G" "" "" "" "ELN(NM_000501.3):c.1994-7T>G, ELN(NM_000501.4):c.1994-7T>G, ELN(NM_001278939.1):c.2180-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065687T>G" "" "likely benign" "" "0000268836" "0" "30" "7" "73480029" "73480029" "subst" "0.000430506" "02329" "ELN_000076" "g.73480029C>T" "" "" "" "ELN(NM_000501.4):c.1999C>T (p.P667S), ELN(NM_001278939.1):c.2185C>T (p.P729S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065699C>T" "" "likely benign" "" "0000268837" "0" "30" "7" "73455561" "73455561" "subst" "0.00156348" "02329" "ELN_000013" "g.73455561C>T" "" "" "" "ELN(NM_000501.4):c.212C>T (p.A71V), ELN(NM_001278939.1):c.212C>T (p.A71V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041231C>T" "" "likely benign" "" "0000268838" "0" "30" "7" "73482987" "73482987" "subst" "0.00304675" "02329" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74068657G>A" "" "likely benign" "" "0000268839" "0" "10" "7" "73455584" "73455584" "subst" "0.000182775" "02329" "ELN_000014" "g.73455584G>A" "" "" "" "ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041254G>A" "" "benign" "" "0000268840" "0" "30" "7" "73457316" "73457316" "subst" "0.000487329" "02329" "ELN_000017" "g.73457316G>A" "" "" "" "ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74042986G>A" "" "likely benign" "" "0000268841" "0" "50" "7" "73457474" "73457474" "subst" "2.57493E-5" "02329" "ELN_000018" "g.73457474G>A" "" "" "" "ELN(NM_000501.4):c.403G>A (p.G135R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043144G>A" "" "VUS" "" "0000268842" "0" "10" "7" "73457506" "73457506" "subst" "0.0112351" "02329" "ELN_000019" "g.73457506C>T" "" "" "" "ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043176C>T" "" "benign" "" "0000268843" "0" "10" "7" "73459575" "73459575" "subst" "0.00124352" "02329" "ELN_000024" "g.73459575G>T" "" "" "" "ELN(NM_000501.2):c.493G>T (p.(Val165Leu)), ELN(NM_000501.4):c.493G>T (p.V165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74045245G>T" "" "benign" "" "0000268844" "0" "30" "7" "73462547" "73462547" "subst" "1.21911E-5" "02329" "ELN_000027" "g.73462547C>T" "" "" "" "ELN(NM_000501.4):c.745+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74048217C>T" "" "likely benign" "" "0000268845" "0" "30" "7" "73466141" "73466141" "subst" "0.000255865" "02329" "ELN_000028" "g.73466141G>A" "" "" "" "ELN(NM_000501.4):c.861G>A (p.G287=), ELN(NM_001278939.1):c.861G>A (p.G287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74051811G>A" "" "likely benign" "" "0000268846" "0" "10" "7" "73466256" "73466256" "subst" "0.000922172" "02329" "ELN_000029" "g.73466256G>A" "" "" "" "ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74051926G>A" "" "benign" "" "0000271109" "0" "10" "7" "73467684" "73467689" "del" "0" "02326" "ELN_000039" "g.73467684_73467689del" "" "" "" "ELN(NM_000501.4):c.1096+45_1096+50delGTGTGT, ELN(NM_001278939.1):c.1096+45_1096+50delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053354_74053359del" "" "benign" "" "0000271110" "0" "10" "7" "73467686" "73467689" "del" "0" "02326" "ELN_000045" "g.73467686_73467689del" "" "" "" "ELN(NM_000501.3):c.1096+12_1096+15delTGTG, ELN(NM_000501.4):c.1096+47_1096+50delGTGT, ELN(NM_001278939.1):c.1096+47_1096+50delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053356_74053359del" "" "benign" "" "0000271111" "0" "10" "7" "73467688" "73467689" "del" "0" "02326" "ELN_000046" "g.73467688_73467689del" "" "" "" "ELN(NM_000501.4):c.1096+49_1096+50delGT, ELN(NM_001278939.1):c.1096+49_1096+50delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74053358_74053359del" "" "benign" "" "0000271115" "0" "30" "7" "73449751" "73449751" "subst" "4.06157E-6" "02326" "ELN_000008" "g.73449751T>G" "" "" "" "ELN(NM_001278939.1):c.133+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74035421T>G" "" "likely benign" "" "0000271116" "0" "10" "7" "73450880" "73450880" "subst" "0.000544578" "02326" "ELN_000011" "g.73450880C>A" "" "" "" "ELN(NM_000501.3):c.134-5C>A, ELN(NM_001278939.1):c.134-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74036550C>A" "" "benign" "" "0000271117" "0" "30" "7" "73471717" "73471717" "subst" "0.0013749" "02326" "ELN_000055" "g.73471717G>A" "" "" "" "ELN(NM_001278939.1):c.1363G>A (p.A455T, p.(Ala455Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74057387G>A" "" "likely benign" "" "0000271118" "0" "50" "7" "73474236" "73474236" "subst" "3.24878E-5" "02326" "ELN_000060" "g.73474236G>A" "" "" "" "ELN(NM_001278939.1):c.1522G>A (p.V508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74059906G>A" "" "VUS" "" "0000271119" "0" "30" "7" "73474693" "73474693" "subst" "0.0094181" "02326" "ELN_000064" "g.73474693C>T" "" "" "" "ELN(NM_000501.4):c.1622-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060363C>T" "" "likely benign" "" "0000271120" "0" "50" "7" "73474365" "73474365" "subst" "8.12236E-6" "02326" "ELN_000062" "g.73474365G>C" "" "" "" "ELN(NM_000501.4):c.1564G>C (p.(Gly522Arg)), ELN(NM_001278939.1):c.1651G>C (p.G551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060035G>C" "" "VUS" "" "0000271121" "0" "30" "7" "73474794" "73474820" "del" "0" "02326" "ELN_000065" "g.73474794_73474820del" "" "" "" "ELN(NM_000501.4):c.1710_1736del (p.(Leu571_Gly579del)), ELN(NM_001278939.1):c.1797_1823delACTTGGAGTTGGTGCTGGTGTTCCTGG (p.L600_G608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060464_74060490del" "" "likely benign" "" "0000271122" "0" "70" "7" "73474866" "73474866" "del" "0" "02326" "ELN_000067" "g.73474866del" "" "" "" "ELN(NM_001278939.1):c.1869delT (p.E624Sfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060536del" "" "likely pathogenic" "" "0000271123" "0" "30" "7" "73480017" "73480017" "subst" "0.000268221" "02326" "ELN_000075" "g.73480017T>G" "" "" "" "ELN(NM_000501.3):c.1994-7T>G, ELN(NM_000501.4):c.1994-7T>G, ELN(NM_001278939.1):c.2180-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065687T>G" "" "likely benign" "" "0000271124" "0" "30" "7" "73480029" "73480029" "subst" "0.000430506" "02326" "ELN_000076" "g.73480029C>T" "" "" "" "ELN(NM_000501.4):c.1999C>T (p.P667S), ELN(NM_001278939.1):c.2185C>T (p.P729S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065699C>T" "" "likely benign" "" "0000271125" "0" "10" "7" "73455561" "73455561" "subst" "0.00156348" "02326" "ELN_000013" "g.73455561C>T" "" "" "" "ELN(NM_000501.4):c.212C>T (p.A71V), ELN(NM_001278939.1):c.212C>T (p.A71V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041231C>T" "" "benign" "" "0000271126" "0" "10" "7" "73482987" "73482987" "subst" "0.00304675" "02326" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74068657G>A" "" "benign" "" "0000271127" "0" "30" "7" "73455584" "73455584" "subst" "0.000182775" "02326" "ELN_000014" "g.73455584G>A" "" "" "" "ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041254G>A" "" "likely benign" "" "0000271128" "0" "10" "7" "73455658" "73455658" "subst" "0" "02326" "ELN_000015" "g.73455658C>T" "" "" "" "ELN(NM_001278939.1):c.232+77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041328C>T" "" "benign" "" "0000271129" "0" "10" "7" "73457506" "73457506" "subst" "0.0112351" "02326" "ELN_000019" "g.73457506C>T" "" "" "" "ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043176C>T" "" "benign" "" "0000276088" "0" "30" "7" "73469098" "73469098" "subst" "0.000101518" "01943" "ELN_000050" "g.73469098C>T" "" "" "" "ELN(NM_000501.3):c.1149C>T (p.Y383=), ELN(NM_000501.4):c.1149C>T (p.(Tyr383=), p.Y383=), ELN(NM_001278939.1):c.1149C>T (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74054768C>T" "" "likely benign" "" "0000276089" "0" "30" "7" "73449760" "73449760" "subst" "0.00273382" "01943" "ELN_000009" "g.73449760C>A" "" "" "" "ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74035430C>A" "" "likely benign" "" "0000276090" "0" "30" "7" "73450880" "73450880" "subst" "0.000544578" "01943" "ELN_000011" "g.73450880C>A" "" "" "" "ELN(NM_000501.3):c.134-5C>A, ELN(NM_001278939.1):c.134-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74036550C>A" "" "likely benign" "" "0000276091" "0" "30" "7" "73450878" "73450878" "subst" "2.03231E-5" "01943" "ELN_000010" "g.73450878C>A" "" "" "" "ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74036548C>A" "" "likely benign" "" "0000276092" "0" "30" "7" "73474344" "73474344" "subst" "5.27923E-5" "01943" "ELN_000061" "g.73474344G>A" "" "" "" "ELN(NM_000501.3):c.1543G>A (p.V515M, p.(Val515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060014G>A" "" "likely benign" "" "0000276093" "0" "30" "7" "73474367" "73474367" "subst" "0.00345631" "01943" "ELN_000063" "g.73474367T>A" "" "" "" "ELN(NM_000501.3):c.1566T>A (p.G522=), ELN(NM_000501.4):c.1566T>A (p.(Gly522=), p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060037T>A" "" "likely benign" "" "0000276094" "0" "50" "7" "73477666" "73477666" "subst" "0" "01943" "ELN_000072" "g.73477666G>A" "" "" "" "ELN(NM_000501.3):c.1885G>A (p.A629T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74063336G>A" "" "VUS" "" "0000276095" "0" "30" "7" "73455537" "73455537" "subst" "4.06098E-6" "01943" "ELN_000012" "g.73455537T>C" "" "" "" "ELN(NM_001278939.1):c.197-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74041207T>C" "" "likely benign" "" "0000276096" "0" "30" "7" "73480029" "73480029" "subst" "0.000430506" "01943" "ELN_000076" "g.73480029C>T" "" "" "" "ELN(NM_000501.4):c.1999C>T (p.P667S), ELN(NM_001278939.1):c.2185C>T (p.P729S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74065699C>T" "" "likely benign" "" "0000276098" "0" "30" "7" "73457507" "73457507" "subst" "0.000180155" "01943" "ELN_000020" "g.73457507G>A" "" "" "" "ELN(NM_000501.3):c.427+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043177G>A" "" "likely benign" "" "0000276099" "0" "50" "7" "73458241" "73458241" "subst" "0.000158667" "01943" "ELN_000022" "g.73458241G>A" "" "" "" "ELN(NM_000501.3):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043911G>A" "" "VUS" "" "0000276100" "0" "50" "7" "73459542" "73459542" "subst" "0.000394481" "01943" "ELN_000023" "g.73459542C>G" "" "" "" "ELN(NM_000501.3):c.470-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74045212C>G" "" "VUS" "" "0000276101" "0" "50" "7" "73461028" "73461033" "del" "0" "01943" "ELN_000025" "g.73461028_73461033del" "" "" "" "ELN(NM_000501.3):c.574_579delGTTGGA (p.V192_G193del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74046698_74046703del" "" "VUS" "" "0000276102" "0" "70" "7" "73462533" "73462533" "subst" "0" "01943" "ELN_000026" "g.73462533T>G" "" "" "" "ELN(NM_000501.3):c.745+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74048203T>G" "" "likely pathogenic" "" "0000331611" "0" "50" "7" "73449708" "73449708" "subst" "0" "01804" "ELN_000006" "g.73449708A>G" "" "" "" "ELN(NM_000501.2):c.97A>G (p.(Ile33Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74035378A>G" "" "VUS" "" "0000331613" "0" "50" "7" "73458215" "73458215" "subst" "0" "01804" "ELN_000021" "g.73458215G>T" "" "" "" "ELN(NM_000501.2):c.434G>T (p.(Gly145Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74043885G>T" "" "VUS" "" "0000331614" "0" "50" "7" "73459575" "73459575" "subst" "0.00124352" "01804" "ELN_000024" "g.73459575G>T" "" "" "" "ELN(NM_000501.2):c.493G>T (p.(Val165Leu)), ELN(NM_000501.4):c.493G>T (p.V165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74045245G>T" "" "VUS" "" "0000331615" "0" "50" "7" "73466256" "73466256" "subst" "0.000922172" "01804" "ELN_000029" "g.73466256G>A" "" "" "" "ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74051926G>A" "" "VUS" "" "0000331617" "0" "30" "7" "73471717" "73471717" "subst" "0.0013749" "01804" "ELN_000055" "g.73471717G>A" "" "" "" "ELN(NM_001278939.1):c.1363G>A (p.A455T, p.(Ala455Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74057387G>A" "" "likely benign" "" "0000331618" "0" "50" "7" "73471771" "73471771" "subst" "0.000134974" "01804" "ELN_000056" "g.73471771G>A" "" "" "" "ELN(NM_001278939.1):c.1417G>A (p.(Gly473Ser), p.G473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74057441G>A" "" "VUS" "" "0000331620" "0" "30" "7" "73474794" "73474820" "del" "0" "01804" "ELN_000065" "g.73474794_73474820del" "" "" "" "ELN(NM_000501.4):c.1710_1736del (p.(Leu571_Gly579del)), ELN(NM_001278939.1):c.1797_1823delACTTGGAGTTGGTGCTGGTGTTCCTGG (p.L600_G608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060464_74060490del" "" "likely benign" "" "0000331621" "0" "50" "7" "73474912" "73474912" "subst" "8.96515E-6" "01804" "ELN_000068" "g.73474912A>G" "" "" "" "ELN(NM_001278939.1):c.1915A>G (p.(Thr639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74060582A>G" "" "VUS" "" "0000331622" "0" "30" "7" "73475464" "73475464" "subst" "8.12361E-6" "01804" "ELN_000069" "g.73475464A>G" "" "" "" "ELN(NM_000501.2):c.1781A>G (p.(Lys594Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74061134A>G" "" "likely benign" "" "0000331624" "0" "30" "7" "73482987" "73482987" "subst" "0.00304675" "01804" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74068657G>A" "" "likely benign" "" "0000344457" "0" "50" "7" "73482996" "73482996" "subst" "4.06494E-6" "02327" "ELN_000081" "g.73482996G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74068666G>C" "" "VUS" "" "0000349993" "0" "90" "7" "73462476" "73462476" "subst" "0" "02327" "ELN_000080" "g.73462476T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74048146T>G" "" "pathogenic" "" "0000532538" "0" "30" "7" "73442537" "73442537" "subst" "4.66232E-5" "01943" "ELN_000082" "g.73442537C>T" "" "" "" "ELN(NM_001278939.1):c.20C>T (p.A7V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028207C>T" "" "likely benign" "" "0000532539" "0" "30" "7" "73442538" "73442538" "subst" "2.11234E-5" "02327" "ELN_000083" "g.73442538G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028208G>A" "" "likely benign" "" "0000532540" "0" "70" "7" "73442600" "73442600" "subst" "0" "01804" "ELN_000084" "g.73442600G>A" "" "" "" "ELN(NM_001278939.1):c.82+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028270G>A" "" "likely pathogenic" "" "0000532541" "0" "10" "7" "73449760" "73449760" "subst" "0.00273382" "02326" "ELN_000009" "g.73449760C>A" "" "" "" "ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74035430C>A" "" "benign" "" "0000532542" "0" "30" "7" "73450878" "73450878" "subst" "2.03231E-5" "02327" "ELN_000010" "g.73450878C>A" "" "" "" "ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74036548C>A" "" "likely benign" "" "0000532543" "0" "50" "7" "73450896" "73450896" "subst" "4.87591E-5" "02326" "ELN_000085" "g.73450896G>A" "" "" "" "ELN(NM_001278939.1):c.145G>A (p.G49R), ELN(NM_001278939.2):c.145G>A (p.G49R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74036566G>A" "" "VUS" "" "0000532544" "0" "30" "7" "73456940" "73456940" "subst" "0.000184358" "01943" "ELN_000086" "g.73456940G>A" "" "" "" "ELN(NM_001278939.1):c.233-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042610G>A" "" "likely benign" "" "0000532545" "0" "50" "7" "73457314" "73457314" "subst" "0.000369546" "01943" "ELN_000087" "g.73457314G>A" "" "" "" "ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042984G>A" "" "VUS" "" "0000532546" "0" "30" "7" "73457314" "73457314" "subst" "0.000369546" "02327" "ELN_000087" "g.73457314G>A" "" "" "" "ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042984G>A" "" "likely benign" "" "0000532547" "0" "50" "7" "73457316" "73457316" "subst" "0.000487329" "01943" "ELN_000017" "g.73457316G>A" "" "" "" "ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042986G>A" "" "VUS" "" "0000532548" "0" "30" "7" "73457506" "73457506" "subst" "0.0112351" "01804" "ELN_000019" "g.73457506C>T" "" "" "" "ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74043176C>T" "" "likely benign" "" "0000532549" "0" "30" "7" "73459565" "73459565" "subst" "3.2834E-5" "01943" "ELN_000088" "g.73459565C>A" "" "" "" "ELN(NM_001278939.1):c.483C>A (p.P161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74045235C>A" "" "likely benign" "" "0000532550" "0" "50" "7" "73462008" "73462008" "subst" "0.000288311" "01943" "ELN_000089" "g.73462008G>T" "" "" "" "ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74047678G>T" "" "VUS" "" "0000532552" "0" "30" "7" "73462008" "73462008" "subst" "0.000288311" "02326" "ELN_000089" "g.73462008G>T" "" "" "" "ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74047678G>T" "" "likely benign" "" "0000532553" "0" "30" "7" "73466075" "73466075" "subst" "0" "02329" "ELN_000090" "g.73466075A>T" "" "" "" "ELN(NM_000501.4):c.800-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051745A>T" "" "likely benign" "" "0000532554" "0" "30" "7" "73466141" "73466141" "subst" "0.000255865" "01943" "ELN_000028" "g.73466141G>A" "" "" "" "ELN(NM_000501.4):c.861G>A (p.G287=), ELN(NM_001278939.1):c.861G>A (p.G287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051811G>A" "" "likely benign" "" "0000532555" "0" "10" "7" "73466256" "73466256" "subst" "0.000922172" "02326" "ELN_000029" "g.73466256G>A" "" "" "" "ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051926G>A" "" "benign" "" "0000532556" "0" "10" "7" "73466285" "73466285" "subst" "0.000845705" "02329" "ELN_000091" "g.73466285A>G" "" "" "" "ELN(NM_000501.4):c.921A>G (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051955A>G" "" "benign" "" "0000532558" "0" "30" "7" "73467625" "73467625" "subst" "4.06858E-6" "01943" "ELN_000093" "g.73467625G>A" "" "" "" "ELN(NM_001278939.1):c.1082G>A (p.G361D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053295G>A" "" "likely benign" "" "0000532559" "0" "10" "7" "73467682" "73467689" "dup" "0" "02326" "ELN_000094" "g.73467682_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+36_1096+43dupTGTGTGTG, ELN(NM_000501.4):c.1096+40_1096+47dupTGTGTGTG, ELN(NM_001278939.1):c.1096+42_1096+49dupTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053352_74053359dup" "" "benign" "" "0000532560" "0" "10" "7" "73467682" "73467689" "dup" "0" "02329" "ELN_000094" "g.73467682_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+36_1096+43dupTGTGTGTG, ELN(NM_000501.4):c.1096+40_1096+47dupTGTGTGTG, ELN(NM_001278939.1):c.1096+42_1096+49dupTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053352_74053359dup" "" "benign" "" "0000532561" "0" "10" "7" "73467684" "73467689" "dup" "0" "02329" "ELN_000095" "g.73467684_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+40_1096+45dupTGTGTG, ELN(NM_000501.4):c.1096+42_1096+47dupTGTGTG, ELN(NM_001278939.1):c.1096+42_1096+47dupTGTGTG, ELN(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053354_74053359dup" "" "benign" "" "0000532562" "0" "10" "7" "73467684" "73467689" "dup" "0" "02326" "ELN_000095" "g.73467684_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+40_1096+45dupTGTGTG, ELN(NM_000501.4):c.1096+42_1096+47dupTGTGTG, ELN(NM_001278939.1):c.1096+42_1096+47dupTGTGTG, ELN(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053354_74053359dup" "" "benign" "" "0000532563" "0" "10" "7" "73467686" "73467689" "dup" "0" "02329" "ELN_000096" "g.73467686_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+44_1096+47dupTGTG, ELN(NM_001278939.1):c.1096+44_1096+47dupTGTG, ELN(NM_001278939.1):c.1096+46_1096+49dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053356_74053359dup" "" "benign" "" "0000532564" "0" "10" "7" "73467686" "73467689" "dup" "0" "02326" "ELN_000096" "g.73467686_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+44_1096+47dupTGTG, ELN(NM_001278939.1):c.1096+44_1096+47dupTGTG, ELN(NM_001278939.1):c.1096+46_1096+49dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053356_74053359dup" "" "benign" "" "0000532565" "0" "50" "7" "73469078" "73469078" "subst" "0" "01943" "ELN_000097" "g.73469078G>T" "" "" "" "ELN(NM_001278939.1):c.1129G>T (p.A377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054748G>T" "" "VUS" "" "0000532566" "0" "30" "7" "73469098" "73469098" "subst" "0.000101518" "02327" "ELN_000050" "g.73469098C>T" "" "" "" "ELN(NM_000501.3):c.1149C>T (p.Y383=), ELN(NM_000501.4):c.1149C>T (p.(Tyr383=), p.Y383=), ELN(NM_001278939.1):c.1149C>T (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054768C>T" "" "likely benign" "" "0000532567" "0" "30" "7" "73469098" "73469098" "subst" "0.000101518" "02326" "ELN_000050" "g.73469098C>T" "" "" "" "ELN(NM_000501.3):c.1149C>T (p.Y383=), ELN(NM_000501.4):c.1149C>T (p.(Tyr383=), p.Y383=), ELN(NM_001278939.1):c.1149C>T (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054768C>T" "" "likely benign" "" "0000532568" "0" "30" "7" "73469098" "73469098" "subst" "0.000101518" "02329" "ELN_000050" "g.73469098C>T" "" "" "" "ELN(NM_000501.3):c.1149C>T (p.Y383=), ELN(NM_000501.4):c.1149C>T (p.(Tyr383=), p.Y383=), ELN(NM_001278939.1):c.1149C>T (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054768C>T" "" "likely benign" "" "0000532569" "0" "50" "7" "73469099" "73469099" "subst" "2.43645E-5" "02329" "ELN_000051" "g.73469099G>A" "" "" "" "ELN(NM_000501.4):c.1150G>A (p.G384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054769G>A" "" "VUS" "" "0000532570" "0" "50" "7" "73469100" "73469100" "subst" "5.68482E-5" "02329" "ELN_000098" "g.73469100G>A" "" "" "" "ELN(NM_000501.4):c.1150+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74054770G>A" "" "VUS" "" "0000532571" "0" "50" "7" "73470628" "73470651" "del" "0" "01943" "ELN_000099" "g.73470628_73470651del" "" "" "" "ELN(NM_001278939.1):c.1178_1201delGCATTCCTACTTACGGGGTTGGAG (p.G393_G400del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056298_74056321del" "" "VUS" "" "0000532572" "0" "30" "7" "73470635" "73470635" "subst" "1.21819E-5" "02329" "ELN_000100" "g.73470635T>G" "" "" "" "ELN(NM_000501.4):c.1185T>G (p.P395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056305T>G" "" "likely benign" "" "0000532573" "0" "30" "7" "73470682" "73470682" "subst" "0.000674057" "02326" "ELN_000101" "g.73470682T>G" "" "" "" "ELN(NM_000501.4):c.1232T>G (p.V411G), ELN(NM_001278939.1):c.1232T>G (p.V411G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056352T>G" "" "likely benign" "" "0000532574" "0" "30" "7" "73470682" "73470682" "subst" "0.000674057" "02329" "ELN_000101" "g.73470682T>G" "" "" "" "ELN(NM_000501.4):c.1232T>G (p.V411G), ELN(NM_001278939.1):c.1232T>G (p.V411G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056352T>G" "" "likely benign" "" "0000532575" "0" "30" "7" "73470719" "73470719" "subst" "0.000215221" "01943" "ELN_000102" "g.73470719C>G" "" "" "" "ELN(NM_000501.4):c.1269C>G (p.(Val423=), p.V423=), ELN(NM_001278939.1):c.1269C>G (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056389C>G" "" "likely benign" "" "0000532576" "0" "30" "7" "73470719" "73470719" "subst" "0.000215221" "02326" "ELN_000102" "g.73470719C>G" "" "" "" "ELN(NM_000501.4):c.1269C>G (p.(Val423=), p.V423=), ELN(NM_001278939.1):c.1269C>G (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056389C>G" "" "likely benign" "" "0000532577" "0" "30" "7" "73470719" "73470719" "subst" "0.000426382" "02329" "ELN_000103" "g.73470719C>T" "" "" "" "ELN(NM_000501.4):c.1269C>T (p.V423=), ELN(NM_001278939.1):c.1269C>T (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056389C>T" "" "likely benign" "" "0000532578" "0" "30" "7" "73470720" "73470720" "subst" "5.27889E-5" "01804" "ELN_000104" "g.73470720G>A" "" "" "" "ELN(NM_000501.2):c.1270G>A (p.(Gly424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056390G>A" "" "likely benign" "" "0000532579" "0" "50" "7" "73471712" "73471712" "subst" "0" "02327" "ELN_000105" "g.73471712G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057382G>T" "" "VUS" "" "0000532580" "0" "30" "7" "73471717" "73471717" "subst" "0.0013749" "01943" "ELN_000055" "g.73471717G>A" "" "" "" "ELN(NM_001278939.1):c.1363G>A (p.A455T, p.(Ala455Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057387G>A" "" "likely benign" "" "0000532581" "0" "30" "7" "73471771" "73471771" "subst" "0.000134974" "02327" "ELN_000056" "g.73471771G>A" "" "" "" "ELN(NM_001278939.1):c.1417G>A (p.(Gly473Ser), p.G473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057441G>A" "" "likely benign" "" "0000532582" "0" "30" "7" "73471772" "73471772" "subst" "2.24198E-5" "01804" "ELN_000106" "g.73471772G>A" "" "" "" "ELN(NM_001278939.1):c.1418G>A (p.(Gly473Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057442G>A" "" "likely benign" "" "0000532583" "0" "30" "7" "73471784" "73471784" "subst" "4.28931E-5" "01804" "ELN_000107" "g.73471784C>T" "" "" "" "ELN(NM_001278939.1):c.1430C>T (p.(Thr477Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057454C>T" "" "likely benign" "" "0000532584" "0" "30" "7" "73471785" "73471785" "subst" "0" "02327" "ELN_000108" "g.73471785G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057455G>A" "" "likely benign" "" "0000532585" "0" "50" "7" "73471978" "73471978" "subst" "8.14943E-6" "02326" "ELN_000109" "g.73471978A>G" "" "" "" "ELN(NM_001278939.1):c.1453A>G (p.T485A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057648A>G" "" "VUS" "" "0000532586" "0" "50" "7" "73471997" "73471997" "subst" "8.15587E-6" "01804" "ELN_000110" "g.73471997C>A" "" "" "" "ELN(NM_000501.4):c.1385C>A (p.(Ala462Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057667C>A" "" "VUS" "" "0000532588" "0" "50" "7" "73474233" "73474233" "subst" "2.03052E-5" "01943" "ELN_000111" "g.73474233G>A" "" "" "" "ELN(NM_001278939.1):c.1519G>A (p.G507S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059903G>A" "" "VUS" "" "0000532590" "0" "30" "7" "73474265" "73474265" "subst" "8.12269E-6" "02327" "ELN_000113" "g.73474265T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059935T>A" "" "likely benign" "" "0000532591" "0" "30" "7" "73474268" "73474268" "subst" "0.000146206" "02327" "ELN_000114" "g.73474268C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059938C>T" "" "likely benign" "" "0000532593" "0" "30" "7" "73474290" "73474290" "subst" "8.12334E-6" "02327" "ELN_000116" "g.73474290T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059960T>G" "" "likely benign" "" "0000532594" "0" "50" "7" "73474290" "73474307" "del" "0" "02329" "ELN_000117" "g.73474290_73474307del" "" "" "" "ELN(NM_000501.4):c.1489_1506delTTGGCTCCTGGAGTTGGC (p.L497_G502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059960_74059977del" "" "VUS" "" "0000532595" "0" "30" "7" "73474301" "73474301" "subst" "0" "02327" "ELN_000118" "g.73474301A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059971A>T" "" "likely benign" "" "0000532596" "0" "30" "7" "73474304" "73474304" "subst" "0" "02327" "ELN_000119" "g.73474304T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059974T>C" "" "likely benign" "" "0000532597" "0" "30" "7" "73474307" "73474307" "subst" "2.03062E-5" "02327" "ELN_000120" "g.73474307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059977C>T" "" "likely benign" "" "0000532598" "0" "30" "7" "73474308" "73474308" "subst" "0.000462974" "01943" "ELN_000121" "g.73474308G>A" "" "" "" "ELN(NM_000501.3):c.1507G>A (p.V503M), ELN(NM_000501.4):c.1507G>A (p.(Val503Met), p.V503M), ELN(NM_001278939.1):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059978G>A" "" "likely benign" "" "0000532599" "0" "30" "7" "73474308" "73474308" "subst" "0.000462974" "01804" "ELN_000121" "g.73474308G>A" "" "" "" "ELN(NM_000501.3):c.1507G>A (p.V503M), ELN(NM_000501.4):c.1507G>A (p.(Val503Met), p.V503M), ELN(NM_001278939.1):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059978G>A" "" "likely benign" "" "0000532600" "0" "30" "7" "73474308" "73474308" "subst" "0.000462974" "02327" "ELN_000121" "g.73474308G>A" "" "" "" "ELN(NM_000501.3):c.1507G>A (p.V503M), ELN(NM_000501.4):c.1507G>A (p.(Val503Met), p.V503M), ELN(NM_001278939.1):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059978G>A" "" "likely benign" "" "0000532601" "0" "30" "7" "73474308" "73474308" "subst" "0.000462974" "02326" "ELN_000121" "g.73474308G>A" "" "" "" "ELN(NM_000501.3):c.1507G>A (p.V503M), ELN(NM_000501.4):c.1507G>A (p.(Val503Met), p.V503M), ELN(NM_001278939.1):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059978G>A" "" "likely benign" "" "0000532602" "0" "30" "7" "73474308" "73474308" "subst" "0.000462974" "02329" "ELN_000121" "g.73474308G>A" "" "" "" "ELN(NM_000501.3):c.1507G>A (p.V503M), ELN(NM_000501.4):c.1507G>A (p.(Val503Met), p.V503M), ELN(NM_001278939.1):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059978G>A" "" "likely benign" "" "0000532603" "0" "30" "7" "73474338" "73474338" "subst" "8.52799E-5" "01943" "ELN_000122" "g.73474338G>A" "" "" "" "ELN(NM_000501.4):c.1537G>A (p.(Val513Ile)), ELN(NM_001278939.1):c.1624G>A (p.V542I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060008G>A" "" "likely benign" "" "0000532604" "0" "30" "7" "73474344" "73474344" "subst" "5.27923E-5" "01804" "ELN_000061" "g.73474344G>A" "" "" "" "ELN(NM_000501.3):c.1543G>A (p.V515M, p.(Val515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060014G>A" "" "likely benign" "" "0000532605" "0" "30" "7" "73474365" "73474365" "subst" "8.12236E-6" "01943" "ELN_000062" "g.73474365G>C" "" "" "" "ELN(NM_000501.4):c.1564G>C (p.(Gly522Arg)), ELN(NM_001278939.1):c.1651G>C (p.G551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060035G>C" "" "likely benign" "" "0000532606" "0" "30" "7" "73474387" "73474387" "subst" "8.12262E-6" "02326" "ELN_000123" "g.73474387A>T" "" "" "" "ELN(NM_001278939.1):c.1663+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060057A>T" "" "likely benign" "" "0000532607" "0" "10" "7" "73474693" "73474693" "subst" "0.0094181" "02327" "ELN_000064" "g.73474693C>T" "" "" "" "ELN(NM_000501.4):c.1622-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060363C>T" "" "benign" "" "0000532608" "0" "30" "7" "73474825" "73474825" "subst" "0.070203" "02327" "ELN_000066" "g.73474825G>C" "" "" "" "ELN(NM_000501.4):c.1741G>C (p.G581R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060495G>C" "" "likely benign" "" "0000532609" "0" "30" "7" "73474923" "73474923" "subst" "2.83889E-5" "02327" "ELN_000124" "g.73474923A>C" "" "" "" "ELN(NM_000501.3):c.1747+92A>C, ELN(NM_001278939.1):c.1926A>C (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060593A>C" "" "likely benign" "" "0000532610" "0" "30" "7" "73475439" "73475439" "subst" "8.12731E-6" "02327" "ELN_000125" "g.73475439G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74061109G>T" "" "likely benign" "" "0000532611" "0" "50" "7" "73475461" "73475461" "subst" "0" "01943" "ELN_000126" "g.73475461C>A" "" "" "" "ELN(NM_001278939.1):c.1964C>A (p.A655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74061131C>A" "" "VUS" "" "0000532612" "0" "30" "7" "73477524" "73477524" "subst" "0.000669571" "01804" "ELN_000127" "g.73477524G>A" "" "" "" "ELN(NM_000501.4):c.1828G>A (p.(Gly610Ser)), ELN(NM_001278939.2):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063194G>A" "" "likely benign" "" "0000532613" "0" "30" "7" "73477545" "73477545" "subst" "0" "01943" "ELN_000128" "g.73477545G>A" "" "" "" "ELN(NM_000501.3):c.1849G>A (p.(Gly617Ser)), ELN(NM_001278939.1):c.2035G>A (p.G679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063215G>A" "" "likely benign" "" "0000532614" "0" "30" "7" "73477642" "73477642" "subst" "0.0011495" "01943" "ELN_000071" "g.73477642G>A" "" "" "" "ELN(NM_000501.4):c.1861G>A (p.A621T), ELN(NM_001278939.1):c.2047G>A (p.A683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063312G>A" "" "likely benign" "" "0000532615" "0" "30" "7" "73477642" "73477642" "subst" "0.0011495" "02327" "ELN_000071" "g.73477642G>A" "" "" "" "ELN(NM_000501.4):c.1861G>A (p.A621T), ELN(NM_001278939.1):c.2047G>A (p.A683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063312G>A" "" "likely benign" "" "0000532616" "0" "50" "7" "73477654" "73477654" "subst" "0" "02326" "ELN_000129" "g.73477654G>A" "" "" "" "ELN(NM_001278939.1):c.2059G>A (p.A687T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063324G>A" "" "VUS" "" "0000532617" "0" "30" "7" "73477665" "73477665" "subst" "0.000278306" "01943" "ELN_000130" "g.73477665C>T" "" "" "" "ELN(NM_001278939.1):c.2070C>T (p.A690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063335C>T" "" "likely benign" "" "0000532618" "0" "30" "7" "73477965" "73477965" "subst" "1.62427E-5" "02327" "ELN_000131" "g.73477965G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063635G>A" "" "likely benign" "" "0000532620" "0" "50" "7" "73480017" "73480017" "subst" "0.000268221" "01943" "ELN_000075" "g.73480017T>G" "" "" "" "ELN(NM_000501.3):c.1994-7T>G, ELN(NM_000501.4):c.1994-7T>G, ELN(NM_001278939.1):c.2180-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74065687T>G" "" "VUS" "" "0000532621" "0" "10" "7" "73480332" "73480332" "subst" "0.00526788" "02329" "ELN_000133" "g.73480332G>C" "" "" "" "ELN(NM_000501.2):c.2086+5G>C (p.?), ELN(NM_000501.4):c.2086+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74066002G>C" "" "benign" "" "0000532622" "0" "10" "7" "73482987" "73482987" "subst" "0.00304675" "02327" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74068657G>A" "" "benign" "" "0000595122" "0" "90" "7" "73450911" "73450911" "subst" "0" "03413" "ELN_000134" "g.73450911G>T" "" "Yanagisawa 2019, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.74036581G>T" "" "pathogenic (dominant)" "" "0000611179" "0" "30" "7" "73456975" "73456975" "subst" "0" "02327" "ELN_000135" "g.73456975G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042645G>A" "" "likely benign" "" "0000611180" "0" "30" "7" "73457485" "73457485" "subst" "1.78412E-5" "01943" "ELN_000136" "g.73457485T>C" "" "" "" "ELN(NM_001278939.1):c.414T>C (p.P138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74043155T>C" "" "likely benign" "" "0000611181" "0" "30" "7" "73466263" "73466263" "subst" "4.06418E-6" "02327" "ELN_000137" "g.73466263C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051933C>T" "" "likely benign" "" "0000611182" "0" "30" "7" "73467535" "73467535" "subst" "0.000109658" "02327" "ELN_000092" "g.73467535C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74053205C>T" "" "likely benign" "" "0000611183" "0" "90" "7" "73471010" "73471010" "subst" "0" "02327" "ELN_000138" "g.73471010C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056680C>T" "" "pathogenic" "" "0000611184" "0" "30" "7" "73474268" "73474268" "subst" "0" "02327" "ELN_000139" "g.73474268C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059938C>A" "" "likely benign" "" "0000611185" "0" "30" "7" "73474271" "73474271" "subst" "0" "02327" "ELN_000140" "g.73474271T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74059941T>A" "" "likely benign" "" "0000611186" "0" "50" "7" "73474794" "73474820" "del" "0" "01943" "ELN_000065" "g.73474794_73474820del" "" "" "" "ELN(NM_000501.4):c.1710_1736del (p.(Leu571_Gly579del)), ELN(NM_001278939.1):c.1797_1823delACTTGGAGTTGGTGCTGGTGTTCCTGG (p.L600_G608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060464_74060490del" "" "VUS" "" "0000611187" "0" "30" "7" "73474794" "73474820" "del" "0" "02327" "ELN_000065" "g.73474794_73474820del" "" "" "" "ELN(NM_000501.4):c.1710_1736del (p.(Leu571_Gly579del)), ELN(NM_001278939.1):c.1797_1823delACTTGGAGTTGGTGCTGGTGTTCCTGG (p.L600_G608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060464_74060490del" "" "likely benign" "" "0000611188" "0" "30" "7" "73477953" "73477953" "subst" "0" "02327" "ELN_000142" "g.73477953C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063623C>T" "" "likely benign" "" "0000611189" "0" "30" "7" "73480017" "73480017" "subst" "0.000268221" "02327" "ELN_000075" "g.73480017T>G" "" "" "" "ELN(NM_000501.3):c.1994-7T>G, ELN(NM_000501.4):c.1994-7T>G, ELN(NM_001278939.1):c.2180-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74065687T>G" "" "likely benign" "" "0000611190" "0" "30" "7" "73481084" "73481084" "subst" "0.000166527" "02329" "ELN_000143" "g.73481084C>T" "" "" "" "ELN(NM_000501.4):c.2109C>T (p.F703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74066754C>T" "" "likely benign" "" "0000621919" "0" "30" "7" "73462008" "73462008" "subst" "0.000288311" "02329" "ELN_000089" "g.73462008G>T" "" "" "" "ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74047678G>T" "" "likely benign" "" "0000621920" "0" "30" "7" "73477941" "73477941" "subst" "0" "01943" "ELN_000141" "g.73477941G>C" "" "" "" "ELN(NM_001278939.1):c.2105-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063611G>C" "" "likely benign" "" "0000652352" "1" "90" "7" "73477700" "73477700" "subst" "0" "03575" "ELN_000144" "g.73477700G>A" "3/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs727503035}" "Germline" "" "rs727503035" "0" "" "" "g.74063370G>A" "" "pathogenic" "" "0000652353" "1" "50" "7" "73482980" "73482980" "subst" "0" "03575" "ELN_000145" "g.73482980C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs782755390}" "Germline" "" "rs782755390" "0" "" "" "g.74068650C>A" "" "VUS" "" "0000655874" "0" "30" "7" "73452082" "73452082" "subst" "4.59797E-5" "02329" "ELN_000146" "g.73452082G>C" "" "" "" "ELN(NM_000501.4):c.196+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74037752G>C" "" "likely benign" "" "0000655875" "0" "30" "7" "73455372" "73455372" "subst" "0" "02329" "ELN_000147" "g.73455372A>G" "" "" "" "ELN(NM_000501.4):c.197-174A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74041042A>G" "" "likely benign" "" "0000655876" "0" "30" "7" "73455584" "73455584" "subst" "0.000182775" "01943" "ELN_000014" "g.73455584G>A" "" "" "" "ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74041254G>A" "" "likely benign" "" "0000655877" "0" "30" "7" "73462818" "73462818" "subst" "0" "02326" "ELN_000148" "g.73462818G>C" "" "" "" "ELN(NM_001278939.1):c.746-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74048488G>C" "" "likely benign" "" "0000655878" "0" "50" "7" "73466276" "73466287" "del" "0" "01943" "ELN_000149" "g.73466276_73466287del" "" "" "" "ELN(NM_001278939.1):c.912_923delTGCAGCTGCAGC (p.A308_A311del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74051946_74051957del" "" "VUS" "" "0000655879" "0" "30" "7" "73470719" "73470719" "subst" "0.000215221" "02329" "ELN_000102" "g.73470719C>G" "" "" "" "ELN(NM_000501.4):c.1269C>G (p.(Val423=), p.V423=), ELN(NM_001278939.1):c.1269C>G (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74056389C>G" "" "likely benign" "" "0000655880" "0" "30" "7" "73474830" "73474830" "subst" "0" "02326" "ELN_000150" "g.73474830A>G" "" "" "" "ELN(NM_001278939.1):c.1833A>G (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74060500A>G" "" "likely benign" "" "0000655881" "0" "30" "7" "73477385" "73477385" "subst" "0" "02329" "ELN_000151" "g.73477385A>C" "" "" "" "ELN(NM_000501.4):c.1787-98A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063055A>C" "" "likely benign" "" "0000655882" "0" "30" "7" "73477514" "73477514" "subst" "2.9665E-5" "02329" "ELN_000152" "g.73477514C>T" "" "" "" "ELN(NM_000501.4):c.1818C>T (p.L606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063184C>T" "" "likely benign" "" "0000655883" "0" "30" "7" "73477665" "73477665" "subst" "0.000278306" "02326" "ELN_000130" "g.73477665C>T" "" "" "" "ELN(NM_001278939.1):c.2070C>T (p.A690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74063335C>T" "" "likely benign" "" "0000655884" "0" "30" "7" "73482758" "73482758" "subst" "0" "02329" "ELN_000153" "g.73482758C>T" "" "" "" "ELN(NM_000501.4):c.2132-229C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74068428C>T" "" "likely benign" "" "0000678164" "0" "30" "7" "73450878" "73450878" "subst" "2.03231E-5" "02326" "ELN_000010" "g.73450878C>A" "" "" "" "ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678165" "0" "30" "7" "73450880" "73450880" "subst" "8.12803E-6" "01943" "ELN_000154" "g.73450880C>T" "" "" "" "ELN(NM_001278939.1):c.134-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678166" "0" "50" "7" "73457314" "73457314" "subst" "0.000369546" "02326" "ELN_000087" "g.73457314G>A" "" "" "" "ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678167" "0" "50" "7" "73470642" "73470642" "subst" "2.84241E-5" "02326" "ELN_000155" "g.73470642G>C" "" "" "" "ELN(NM_001278939.1):c.1192G>C (p.G398R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678168" "0" "30" "7" "73471155" "73471155" "subst" "0" "02329" "ELN_000156" "g.73471155A>C" "" "" "" "ELN(NM_000501.4):c.1357+112A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678169" "0" "30" "7" "73474914" "73474914" "subst" "0.000401826" "02326" "ELN_000157" "g.73474914C>T" "" "" "" "ELN(NM_001278939.1):c.1917C>T (p.T639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678170" "0" "90" "7" "73477669" "73477669" "del" "0" "01943" "ELN_000158" "g.73477669del" "" "" "" "ELN(NM_000501.3):c.1888delG (p.A630Pfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690061" "0" "30" "7" "73449589" "73449589" "subst" "0" "02329" "ELN_000159" "g.73449589A>C" "" "" "" "ELN(NM_000501.4):c.83-105A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690062" "0" "30" "7" "73456936" "73456936" "subst" "4.09833E-6" "01943" "ELN_000160" "g.73456936C>T" "" "" "" "ELN(NM_001278939.1):c.233-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690063" "0" "30" "7" "73468725" "73468725" "subst" "0" "02329" "ELN_000161" "g.73468725G>A" "" "" "" "ELN(NM_000501.4):c.1097-321G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690064" "0" "30" "7" "73470719" "73470719" "subst" "0.000426382" "01943" "ELN_000103" "g.73470719C>T" "" "" "" "ELN(NM_000501.4):c.1269C>T (p.V423=), ELN(NM_001278939.1):c.1269C>T (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690065" "0" "10" "7" "73471024" "73471024" "subst" "0.00249524" "02326" "ELN_000162" "g.73471024C>T" "" "" "" "ELN(NM_001278939.1):c.1338C>T (p.A446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690066" "0" "50" "7" "73483017" "73483017" "subst" "4.87361E-5" "01943" "ELN_000163" "g.73483017G>A" "" "" "" "ELN(NM_001278939.1):c.2348G>A (p.R783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721531" "0" "30" "7" "73450910" "73450910" "subst" "2.43706E-5" "01943" "ELN_000164" "g.73450910A>T" "" "" "" "ELN(NM_001278939.1):c.159A>T (p.G53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721532" "0" "30" "7" "73459565" "73459565" "subst" "3.2834E-5" "02326" "ELN_000088" "g.73459565C>A" "" "" "" "ELN(NM_001278939.1):c.483C>A (p.P161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721533" "0" "30" "7" "73459934" "73459934" "subst" "0" "02329" "ELN_000165" "g.73459934A>G" "" "" "" "ELN(NM_000501.4):c.541+311A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721534" "0" "30" "7" "73461048" "73461048" "subst" "4.87405E-5" "02326" "ELN_000166" "g.73461048G>A" "" "" "" "ELN(NM_001278939.1):c.594G>A (p.P198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721535" "0" "10" "7" "73467680" "73467689" "dup" "0" "02329" "ELN_000167" "g.73467680_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+36_1096+45dupTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721536" "0" "10" "7" "73467688" "73467689" "dup" "0" "02325" "ELN_000035" "g.73467688_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+48_1096+49dupTG, ELN(NM_001278939.1):c.1096+48_1096+49dupTG, ELN(NM_001278939.2):c.1096+48_1096+49dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721537" "0" "50" "7" "73470621" "73470621" "subst" "0" "01943" "ELN_000168" "g.73470621G>T" "" "" "" "ELN(NM_001278939.1):c.1171G>T (p.V391F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721538" "0" "30" "7" "73471560" "73471560" "subst" "0" "02329" "ELN_000169" "g.73471560T>C" "" "" "" "ELN(NM_000501.4):c.1358-410T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721539" "0" "30" "7" "73474338" "73474355" "dup" "0" "02326" "ELN_000170" "g.73474338_73474355dup" "" "" "" "ELN(NM_001278939.1):c.1624_1641dupGTTGGCGTGGCTCCCGGC (p.V542_G547dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721540" "0" "50" "7" "73474923" "73474923" "subst" "2.83889E-5" "01943" "ELN_000124" "g.73474923A>C" "" "" "" "ELN(NM_000501.3):c.1747+92A>C, ELN(NM_001278939.1):c.1926A>C (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721541" "0" "30" "7" "73477988" "73477988" "subst" "0" "01943" "ELN_000171" "g.73477988C>T" "" "" "" "ELN(NM_001278939.1):c.2142C>T (p.V714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803232" "0" "30" "7" "73457314" "73457314" "subst" "0.000369546" "02325" "ELN_000087" "g.73457314G>A" "" "" "" "ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803233" "0" "30" "7" "73467564" "73467564" "subst" "2.84324E-5" "01943" "ELN_000172" "g.73467564G>A" "" "" "" "ELN(NM_001278939.1):c.1021G>A (p.V341I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803234" "0" "50" "7" "73470666" "73470666" "subst" "3.65453E-5" "01943" "ELN_000173" "g.73470666G>A" "" "" "" "ELN(NM_001278939.1):c.1216G>A (p.G406S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803235" "0" "30" "7" "73472037" "73472037" "dup" "0" "01943" "ELN_000174" "g.73472037dup" "" "" "" "ELN(NM_001278939.1):c.1501+11dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803236" "0" "50" "7" "73475461" "73475461" "subst" "0" "02326" "ELN_000126" "g.73475461C>A" "" "" "" "ELN(NM_001278939.1):c.1964C>A (p.A655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831735" "1" "50" "7" "73469099" "73469099" "subst" "2.43645E-5" "00006" "ELN_000051" "g.73469099G>A" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.74054769G>A" "" "VUS" "" "0000831736" "1" "50" "7" "73469100" "73469100" "subst" "5.68482E-5" "00006" "ELN_000098" "g.73469100G>A" "3/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.74054770G>A" "" "VUS" "" "0000831737" "1" "50" "7" "73474290" "73474307" "del" "0" "00006" "ELN_000117" "g.73474290_73474307del" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.74059960_74059977del" "" "VUS" "" "0000841186" "0" "70" "7" "72657228" "74160300" "del" "0" "00006" "ELN_000175" "g.(?_72657228)_(74160300_?)del" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "seq[hg19]del(7)(q11.23)chr7:g.72657228_74,160300del" "" "" "likely pathogenic (dominant)" "" "0000851659" "0" "90" "7" "73442543" "73442550" "del" "0" "02329" "ELN_000176" "g.73442543_73442550del" "" "" "" "ELN(NM_000501.4):c.26_33delCGCGGCCC (p.P9Rfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851660" "0" "30" "7" "73474525" "73474525" "subst" "6.90653E-5" "02326" "ELN_000179" "g.73474525C>T" "" "" "" "ELN(NM_001278939.1):c.1708+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860896" "0" "50" "7" "73452037" "73452037" "subst" "0" "01943" "ELN_000177" "g.73452037C>A" "" "" "" "ELN(NM_001278939.1):c.164C>A (p.A55E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860897" "0" "50" "7" "73470748" "73470748" "subst" "2.43685E-5" "02325" "ELN_000178" "g.73470748C>T" "" "" "" "ELN(NM_001278939.2):c.1298C>T (p.P433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860898" "0" "30" "7" "73480332" "73480332" "subst" "0.00526788" "01804" "ELN_000133" "g.73480332G>C" "" "" "" "ELN(NM_000501.2):c.2086+5G>C (p.?), ELN(NM_000501.4):c.2086+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887966" "0" "50" "7" "73462520" "73462520" "subst" "0" "02325" "ELN_000180" "g.73462520C>A" "" "" "" "ELN(NM_001278939.2):c.734C>A (p.P245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887967" "0" "50" "7" "73466161" "73466161" "subst" "0" "02325" "ELN_000181" "g.73466161G>C" "" "" "" "ELN(NM_000501.3):c.881G>C (p.(Gly294Ala)), ELN(NM_001278939.2):c.881G>C (p.G294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887968" "0" "10" "7" "73467688" "73467689" "dup" "0" "02326" "ELN_000035" "g.73467688_73467689dup" "" "" "" "ELN(NM_000501.4):c.1096+48_1096+49dupTG, ELN(NM_001278939.1):c.1096+48_1096+49dupTG, ELN(NM_001278939.2):c.1096+48_1096+49dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887969" "0" "50" "7" "73470628" "73470651" "del" "0" "02326" "ELN_000099" "g.73470628_73470651del" "" "" "" "ELN(NM_001278939.1):c.1178_1201delGCATTCCTACTTACGGGGTTGGAG (p.G393_G400del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887970" "0" "10" "7" "73477524" "73477524" "subst" "0.000669571" "02325" "ELN_000127" "g.73477524G>A" "" "" "" "ELN(NM_000501.4):c.1828G>A (p.(Gly610Ser)), ELN(NM_001278939.2):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887971" "0" "30" "7" "73481096" "73481096" "subst" "4.062E-6" "02326" "ELN_000182" "g.73481096C>T" "" "" "" "ELN(NM_001278939.1):c.2307C>T (p.P769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912789" "0" "50" "7" "73470732" "73470732" "subst" "4.06085E-6" "02325" "ELN_000183" "g.73470732G>A" "" "" "" "ELN(NM_001278939.2):c.1282G>A (p.G428R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912790" "0" "50" "7" "73480062" "73480062" "subst" "4.87361E-5" "02327" "ELN_000184" "g.73480062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912791" "0" "50" "7" "73483016" "73483016" "subst" "1.21857E-5" "02325" "ELN_000185" "g.73483016C>T" "" "" "" "ELN(NM_001278939.2):c.2347C>T (p.R783W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912792" "0" "50" "7" "73483017" "73483017" "subst" "4.87361E-5" "02326" "ELN_000163" "g.73483017G>A" "" "" "" "ELN(NM_001278939.1):c.2348G>A (p.R783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924751" "0" "30" "7" "73457485" "73457485" "subst" "1.78412E-5" "02326" "ELN_000136" "g.73457485T>C" "" "" "" "ELN(NM_001278939.1):c.414T>C (p.P138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936228" "0" "50" "7" "73452048" "73452048" "subst" "4.12239E-6" "00006" "ELN_000186" "g.73452048G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001278939:c.G175A (G59R)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000948943" "0" "50" "7" "73457316" "73457316" "subst" "0.000487329" "02325" "ELN_000017" "g.73457316G>A" "" "" "" "ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948944" "0" "70" "7" "73461043" "73461043" "subst" "0" "02327" "ELN_000187" "g.73461043G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948945" "0" "50" "7" "73471771" "73471771" "subst" "0.000134974" "02326" "ELN_000056" "g.73471771G>A" "" "" "" "ELN(NM_001278939.1):c.1417G>A (p.(Gly473Ser), p.G473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948946" "0" "50" "7" "73474499" "73474499" "subst" "1.21866E-5" "02325" "ELN_000188" "g.73474499G>T" "" "" "" "ELN(NM_000501.3):c.1606G>T (p.(Ala536Ser)), ELN(NM_001278939.2):c.1693G>T (p.A565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960290" "0" "70" "7" "73457041" "73457041" "subst" "0" "03779" "ELN_000189" "g.73457041G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1791519372" "0" "" "" "" "" "likely pathogenic" "" "0000964665" "0" "50" "7" "73458212" "73458212" "subst" "0" "02327" "ELN_000190" "g.73458212T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964667" "0" "10" "7" "73477642" "73477642" "subst" "0.0011495" "02326" "ELN_000071" "g.73477642G>A" "" "" "" "ELN(NM_000501.4):c.1861G>A (p.A621T), ELN(NM_001278939.1):c.2047G>A (p.A683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964668" "0" "50" "7" "73482987" "73482987" "subst" "0.00304675" "01943" "ELN_000079" "g.73482987G>A" "" "" "" "ELN(NM_000501.3):c.2132G>A (p.G711D, p.(Gly711Asp)), ELN(NM_000501.4):c.2132G>A (p.G711D), ELN(NM_001278939.1):c.2318G>A (p.G773D), ELN(NM_0012789...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972393" "0" "50" "7" "73482980" "73482980" "subst" "0" "03779" "ELN_000145" "g.73482980C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs782755390" "0" "" "" "" "" "VUS" "" "0000977828" "0" "30" "7" "73442551" "73442551" "subst" "6.33478E-5" "01804" "ELN_000192" "g.73442551G>A" "" "" "" "ELN(NM_000501.4):c.34G>A (p.(Gly12Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977829" "0" "30" "7" "73450878" "73450878" "subst" "2.03231E-5" "01804" "ELN_000010" "g.73450878C>A" "" "" "" "ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977831" "0" "30" "7" "73462008" "73462008" "subst" "0.000288311" "01804" "ELN_000089" "g.73462008G>T" "" "" "" "ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977832" "0" "50" "7" "73471045" "73471045" "dup" "0" "01804" "ELN_000194" "g.73471045dup" "" "" "" "ELN(NM_000501.4):c.1357+2dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977833" "0" "30" "7" "73474195" "73474195" "subst" "2.0309E-5" "01804" "ELN_000195" "g.73474195C>T" "" "" "" "ELN(NM_001278915.2):c.1415-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977834" "0" "30" "7" "73474365" "73474365" "subst" "8.12236E-6" "01804" "ELN_000062" "g.73474365G>C" "" "" "" "ELN(NM_000501.4):c.1564G>C (p.(Gly522Arg)), ELN(NM_001278939.1):c.1651G>C (p.G551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977835" "0" "50" "7" "73474499" "73474499" "subst" "1.21866E-5" "02327" "ELN_000188" "g.73474499G>T" "" "" "" "ELN(NM_000501.3):c.1606G>T (p.(Ala536Ser)), ELN(NM_001278939.2):c.1693G>T (p.A565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977836" "0" "50" "7" "73477478" "73477478" "subst" "8.80103E-6" "01804" "ELN_000196" "g.73477478C>A" "" "" "" "ELN(NM_000501.4):c.1787-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977837" "0" "30" "7" "73482982" "73482982" "subst" "0.000207528" "02325" "ELN_000197" "g.73482982T>A" "" "" "" "ELN(NM_001278939.2):c.2318-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996638" "0" "30" "7" "73457316" "73457316" "subst" "0.000487329" "02326" "ELN_000017" "g.73457316G>A" "" "" "" "ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996639" "0" "50" "7" "73466161" "73466161" "subst" "0" "01804" "ELN_000181" "g.73466161G>C" "" "" "" "ELN(NM_000501.3):c.881G>C (p.(Gly294Ala)), ELN(NM_001278939.2):c.881G>C (p.G294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996640" "0" "50" "7" "73470666" "73470666" "subst" "0" "01804" "ELN_000198" "g.73470666G>C" "" "" "" "ELN(NM_000501.3):c.1216G>C (p.(Gly406Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996641" "0" "30" "7" "73470684" "73470684" "subst" "3.65456E-5" "01804" "ELN_000199" "g.73470684G>A" "" "" "" "ELN(NM_000501.3):c.1234G>A (p.(Gly412Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996642" "0" "30" "7" "73471726" "73471726" "subst" "6.46638E-6" "01804" "ELN_000200" "g.73471726G>A" "" "" "" "ELN(NM_001278939.1):c.1372G>A (p.(Gly458Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996643" "0" "50" "7" "73474499" "73474499" "subst" "1.21866E-5" "01804" "ELN_000188" "g.73474499G>T" "" "" "" "ELN(NM_000501.3):c.1606G>T (p.(Ala536Ser)), ELN(NM_001278939.2):c.1693G>T (p.A565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996644" "0" "30" "7" "73477545" "73477545" "subst" "0" "01804" "ELN_000128" "g.73477545G>A" "" "" "" "ELN(NM_000501.3):c.1849G>A (p.(Gly617Ser)), ELN(NM_001278939.1):c.2035G>A (p.G679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996645" "0" "30" "7" "73477959" "73477959" "subst" "0" "01804" "ELN_000201" "g.73477959G>T" "" "" "" "ELN(NM_001278939.1):c.2113G>T (p.(Ala705Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996646" "0" "50" "7" "73477988" "73478002" "del" "0" "01804" "ELN_000202" "g.73477988_73478002del" "" "" "" "ELN(NM_000501.3):c.1956_1970delCGGAGGGCTTGGAGT (p.(Gly653_Val657del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996647" "0" "50" "7" "73480044" "73480044" "subst" "8.12341E-6" "01804" "ELN_000203" "g.73480044G>A" "" "" "" "ELN(NM_000501.3):c.2014G>A (p.(Ala672Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020264" "0" "30" "7" "73477642" "73477642" "subst" "0.0011495" "03779" "ELN_000071" "g.73477642G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs150404125" "0" "" "" "" "" "likely benign" "" "0001025425" "0" "30" "7" "73449760" "73449760" "subst" "0.00273382" "02329" "ELN_000009" "g.73449760C>A" "" "" "" "ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025426" "0" "50" "7" "73450896" "73450896" "subst" "4.87591E-5" "02325" "ELN_000085" "g.73450896G>A" "" "" "" "ELN(NM_001278939.1):c.145G>A (p.G49R), ELN(NM_001278939.2):c.145G>A (p.G49R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025427" "0" "30" "7" "73474693" "73474693" "subst" "0.0094181" "02329" "ELN_000064" "g.73474693C>T" "" "" "" "ELN(NM_000501.4):c.1622-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029769" "0" "50" "7" "73480328" "73480328" "subst" "0" "03779" "ELN_000204" "g.73480328G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs372826560" "0" "" "" "" "" "VUS" "" "0001030042" "0" "50" "7" "73470633" "73470633" "subst" "0" "04817" "ELN_000205" "g.73470633C>A" "" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "monoallelic pathogenic/likely pathogenic variants are associated with Cutis laxa, autosomal dominant OMIM 123700 or Supravalvar aortic stenosis\tOMIM 185500.\r\nEvidence of vascular phenotypes in \"Changez MIK, Nasir A, Sonsino A, Jeoffrey SM, Kalyanasundaram A, Zafar MA, Ziganshin BA, Elefteriades JA. Genetic Overlap of Thoracic Aortic Aneurysms and Intracranial Aneurysms. Genes (Basel). 2025 Jan 26;16(2):154. doi: 10.3390/genes16020154. PMID: 40004483; PMCID: PMC11855647.\"" "Germline" "?" "" "0" "" "" "g.74056303C>A" "" "VUS" "ACMG" "0001036507" "0" "50" "7" "73457313" "73457313" "subst" "4.06105E-6" "01804" "ELN_000206" "g.73457313G>A" "" "" "" "ELN(NM_000501.4):c.326-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036508" "0" "30" "7" "73457314" "73457314" "subst" "0.000369546" "01804" "ELN_000087" "g.73457314G>A" "" "" "" "ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036509" "0" "50" "7" "73462858" "73462860" "dup" "0" "01804" "ELN_000207" "g.73462858_73462860dup" "" "" "" "ELN(NM_000501.4):c.771_773dup (p.(Ala260dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036510" "0" "10" "7" "73466295" "73466295" "subst" "0.00112067" "01804" "ELN_000208" "g.73466295G>A" "" "" "" "ELN(NM_000501.4):c.931G>A (p.(Ala311Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036511" "0" "30" "7" "73470719" "73470719" "subst" "0.000215221" "01804" "ELN_000102" "g.73470719C>G" "" "" "" "ELN(NM_000501.4):c.1269C>G (p.(Val423=), p.V423=), ELN(NM_001278939.1):c.1269C>G (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036512" "0" "30" "7" "73471808" "73471808" "subst" "4.8369E-6" "01804" "ELN_000209" "g.73471808G>C" "" "" "" "ELN(NM_001278939.2):c.1444+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036513" "0" "30" "7" "73472007" "73472007" "subst" "8.14677E-5" "01804" "ELN_000210" "g.73472007C>T" "" "" "" "ELN(NM_000501.4):c.1395C>T (p.(Ala465=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036514" "0" "50" "7" "73474247" "73474264" "del" "0" "01804" "ELN_000211" "g.73474247_73474264del" "" "" "" "ELN(NM_000501.4):c.1446_1463del (p.(Val491_Gly496del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036515" "0" "50" "7" "73474468" "73474468" "subst" "0" "01804" "ELN_000212" "g.73474468A>T" "" "" "" "ELN(NM_000501.4):c.1577-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036516" "0" "50" "7" "73477625" "73477625" "subst" "1.25313E-5" "02327" "ELN_000070" "g.73477625G>A" "" "" "" "ELN(NM_000501.4):c.1859-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046127" "0" "30" "7" "73450879" "73450879" "subst" "3.65797E-5" "02326" "ELN_000213" "g.73450879C>A" "" "" "" "ELN(NM_001278939.1):c.134-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047077" "0" "50" "7" "73474468" "73474468" "subst" "0" "03779" "ELN_000212" "g.73474468A>T" "" "" "" "" "" "Unknown" "" "rs1230920104" "0" "" "" "" "" "VUS" "" "0001052701" "0" "30" "7" "73469098" "73469098" "subst" "0.000101518" "01804" "ELN_000050" "g.73469098C>T" "" "" "" "ELN(NM_000501.3):c.1149C>T (p.Y383=), ELN(NM_000501.4):c.1149C>T (p.(Tyr383=), p.Y383=), ELN(NM_001278939.1):c.1149C>T (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052702" "0" "30" "7" "73474338" "73474338" "subst" "8.52799E-5" "01804" "ELN_000122" "g.73474338G>A" "" "" "" "ELN(NM_000501.4):c.1537G>A (p.(Val513Ile)), ELN(NM_001278939.1):c.1624G>A (p.V542I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052703" "0" "10" "7" "73474367" "73474367" "subst" "0.00345631" "01804" "ELN_000063" "g.73474367T>A" "" "" "" "ELN(NM_000501.3):c.1566T>A (p.G522=), ELN(NM_000501.4):c.1566T>A (p.(Gly522=), p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ELN ## Count = 289 "{{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}}" "0000012501" "00001055" "30" "427" "92" "427" "92" "c.427+92G>C" "r.(=)" "p.(=)" "8i" "0000052436" "00001055" "70" "450" "0" "450" "0" "c.450C>A" "r.(?)" "p.(Tyr150*)" "9" "0000052437" "00001055" "70" "8" "0" "8" "0" "c.8del" "r.(?)" "p.(Gly3Valfs*2)" "1" "0000052438" "00001055" "70" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12*)" "1" "0000052439" "00001055" "70" "1295" "0" "1296" "0" "c.1295_1296insG" "r.(?)" "p.(Val435Serfs*29)" "20" "0000169139" "00001055" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_33_" "0000249115" "00001055" "10" "1414" "14" "1414" "14" "c.1414+14A>C" "r.(=)" "p.(=)" "" "0000250217" "00001055" "10" "2033" "-16" "2033" "-16" "c.2033-16A>G" "r.(=)" "p.(=)" "" "0000253596" "00001055" "10" "1388" "0" "1388" "0" "c.1388A>G" "r.(?)" "p.(Lys463Arg)" "" "0000267807" "00001055" "10" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Gly422Ser)" "" "0000267808" "00001055" "10" "1315" "17" "1315" "17" "c.1315+17C>T" "r.(=)" "p.(=)" "" "0000267809" "00001055" "30" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000268807" "00001055" "30" "1001" "0" "1001" "0" "c.1001T>C" "r.(?)" "p.(Val334Ala)" "" "0000268812" "00001055" "10" "1096" "49" "1096" "50" "c.1096+49_1096+50del" "r.(=)" "p.(=)" "" "0000268813" "00001055" "10" "1096" "49" "1096" "50" "c.1096+49_1096+50dup" "r.(=)" "p.(=)" "" "0000268814" "00001055" "10" "1096" "47" "1096" "50" "c.1096+47_1096+50del" "r.(=)" "p.(=)" "" "0000268816" "00001055" "10" "1096" "45" "1096" "50" "c.1096+45_1096+50del" "r.(=)" "p.(=)" "" "0000268817" "00001055" "10" "1096" "12" "1096" "13" "c.1096+12_1096+13insTG" "r.(=)" "p.(=)" "" "0000268826" "00001055" "10" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Gly422Ser)" "" "0000268827" "00001055" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Pro433=)" "" "0000268828" "00001055" "10" "1315" "17" "1315" "17" "c.1315+17C>T" "r.(=)" "p.(=)" "" "0000268829" "00001055" "30" "133" "6" "133" "6" "c.133+6G>A" "r.(=)" "p.(=)" "" "0000268830" "00001055" "10" "1566" "0" "1566" "0" "c.1566T>A" "r.(?)" "p.(Gly522=)" "" "0000268831" "00001055" "10" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Gly581Arg)" "" "0000268832" "00001055" "30" "1859" "-15" "1859" "-15" "c.1859-15G>A" "r.(=)" "p.(=)" "" "0000268833" "00001055" "30" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Ala621Thr)" "" "0000268834" "00001055" "30" "1909" "0" "1909" "0" "c.1909G>T" "r.(?)" "p.(Ala637Ser)" "" "0000268835" "00001055" "30" "1994" "-7" "1994" "-7" "c.1994-7T>G" "r.(=)" "p.(=)" "" "0000268836" "00001055" "30" "1999" "0" "1999" "0" "c.1999C>T" "r.(?)" "p.(Pro667Ser)" "" "0000268837" "00001055" "30" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ala71Val)" "" "0000268838" "00001055" "30" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000268839" "00001055" "10" "232" "3" "232" "3" "c.232+3G>A" "r.spl?" "p.?" "" "0000268840" "00001055" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000268841" "00001055" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Arg)" "" "0000268842" "00001055" "10" "427" "8" "427" "8" "c.427+8C>T" "r.(=)" "p.(=)" "" "0000268843" "00001055" "10" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Val165Leu)" "" "0000268844" "00001055" "30" "745" "16" "745" "16" "c.745+16C>T" "r.(=)" "p.(=)" "" "0000268845" "00001055" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Gly287=)" "" "0000268846" "00001055" "10" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Ile)" "" "0000271109" "00001055" "10" "1096" "45" "1096" "50" "c.1096+45_1096+50del" "r.(=)" "p.(=)" "" "0000271110" "00001055" "10" "1096" "47" "1096" "50" "c.1096+47_1096+50del" "r.(=)" "p.(=)" "" "0000271111" "00001055" "10" "1096" "49" "1096" "50" "c.1096+49_1096+50del" "r.(=)" "p.(=)" "" "0000271115" "00001055" "30" "133" "7" "133" "7" "c.133+7T>G" "r.(=)" "p.(=)" "" "0000271116" "00001055" "10" "134" "-5" "134" "-5" "c.134-5C>A" "r.spl?" "p.?" "" "0000271117" "00001055" "30" "1358" "-253" "1358" "-253" "c.1358-253G>A" "r.(=)" "p.(=)" "" "0000271118" "00001055" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Val479Met)" "" "0000271119" "00001055" "30" "1622" "-13" "1622" "-13" "c.1622-13C>T" "r.(=)" "p.(=)" "" "0000271120" "00001055" "50" "1564" "0" "1564" "0" "c.1564G>C" "r.(?)" "p.(Gly522Arg)" "" "0000271121" "00001055" "30" "1710" "0" "1736" "0" "c.1710_1736del" "r.(?)" "p.(Leu571_Gly579del)" "" "0000271122" "00001055" "70" "1747" "35" "1747" "35" "c.1747+35del" "r.(=)" "p.(=)" "" "0000271123" "00001055" "30" "1994" "-7" "1994" "-7" "c.1994-7T>G" "r.(=)" "p.(=)" "" "0000271124" "00001055" "30" "1999" "0" "1999" "0" "c.1999C>T" "r.(?)" "p.(Pro667Ser)" "" "0000271125" "00001055" "10" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ala71Val)" "" "0000271126" "00001055" "10" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000271127" "00001055" "30" "232" "3" "232" "3" "c.232+3G>A" "r.spl?" "p.?" "" "0000271128" "00001055" "10" "232" "77" "232" "77" "c.232+77C>T" "r.(=)" "p.(=)" "" "0000271129" "00001055" "10" "427" "8" "427" "8" "c.427+8C>T" "r.(=)" "p.(=)" "" "0000276088" "00001055" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Tyr383=)" "" "0000276089" "00001055" "30" "133" "16" "133" "16" "c.133+16C>A" "r.(=)" "p.(=)" "" "0000276090" "00001055" "30" "134" "-5" "134" "-5" "c.134-5C>A" "r.spl?" "p.?" "" "0000276091" "00001055" "30" "134" "-7" "134" "-7" "c.134-7C>A" "r.(=)" "p.(=)" "" "0000276092" "00001055" "30" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Met)" "" "0000276093" "00001055" "30" "1566" "0" "1566" "0" "c.1566T>A" "r.(?)" "p.(Gly522=)" "" "0000276094" "00001055" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Ala629Thr)" "" "0000276095" "00001055" "30" "197" "-9" "197" "-9" "c.197-9T>C" "r.(=)" "p.(=)" "" "0000276096" "00001055" "30" "1999" "0" "1999" "0" "c.1999C>T" "r.(?)" "p.(Pro667Ser)" "" "0000276098" "00001055" "30" "427" "9" "427" "9" "c.427+9G>A" "r.(=)" "p.(=)" "" "0000276099" "00001055" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Met)" "" "0000276100" "00001055" "50" "470" "-10" "470" "-10" "c.470-10C>G" "r.(=)" "p.(=)" "" "0000276101" "00001055" "50" "574" "0" "579" "0" "c.574_579del" "r.(?)" "p.(Val192_Gly193del)" "" "0000276102" "00001055" "70" "745" "2" "745" "2" "c.745+2T>G" "r.spl?" "p.?" "" "0000331611" "00001055" "50" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Ile33Val)" "" "0000331613" "00001055" "50" "434" "0" "434" "0" "c.434G>T" "r.(?)" "p.(Gly145Val)" "" "0000331614" "00001055" "50" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Val165Leu)" "" "0000331615" "00001055" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Ile)" "" "0000331617" "00001055" "30" "1358" "-253" "1358" "-253" "c.1358-253G>A" "r.(=)" "p.(=)" "" "0000331618" "00001055" "50" "1358" "-199" "1358" "-199" "c.1358-199G>A" "r.(=)" "p.(=)" "" "0000331620" "00001055" "30" "1710" "0" "1736" "0" "c.1710_1736del" "r.(?)" "p.(Leu571_Gly579del)" "" "0000331621" "00001055" "50" "1747" "81" "1747" "81" "c.1747+81A>G" "r.(=)" "p.(=)" "" "0000331622" "00001055" "30" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Lys594Arg)" "" "0000331624" "00001055" "30" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000344457" "00001055" "50" "2141" "0" "2141" "0" "c.2141G>C" "r.(?)" "p.(Cys714Ser)" "" "0000349993" "00001055" "90" "690" "0" "690" "0" "c.690T>G" "r.(?)" "p.(Tyr230Ter)" "" "0000532538" "00001055" "30" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Ala7Val)" "" "0000532539" "00001055" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "0000532540" "00001055" "70" "82" "1" "82" "1" "c.82+1G>A" "r.spl?" "p.?" "" "0000532541" "00001055" "10" "133" "16" "133" "16" "c.133+16C>A" "r.(=)" "p.(=)" "" "0000532542" "00001055" "30" "134" "-7" "134" "-7" "c.134-7C>A" "r.(=)" "p.(=)" "" "0000532543" "00001055" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Gly49Arg)" "" "0000532544" "00001055" "30" "233" "-4" "233" "-4" "c.233-4G>A" "r.spl?" "p.?" "" "0000532545" "00001055" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "0000532546" "00001055" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "0000532547" "00001055" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000532548" "00001055" "30" "427" "8" "427" "8" "c.427+8C>T" "r.(=)" "p.(=)" "" "0000532549" "00001055" "30" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Pro161=)" "" "0000532550" "00001055" "50" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Gly216Val)" "" "0000532552" "00001055" "30" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Gly216Val)" "" "0000532553" "00001055" "30" "800" "-5" "800" "-5" "c.800-5A>T" "r.spl?" "p.?" "" "0000532554" "00001055" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Gly287=)" "" "0000532555" "00001055" "10" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Ile)" "" "0000532556" "00001055" "10" "921" "0" "921" "0" "c.921A>G" "r.(?)" "p.(Ala307=)" "" "0000532558" "00001055" "30" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Gly361Asp)" "" "0000532559" "00001055" "10" "1096" "43" "1096" "50" "c.1096+43_1096+50dup" "r.(=)" "p.(=)" "" "0000532560" "00001055" "10" "1096" "43" "1096" "50" "c.1096+43_1096+50dup" "r.(=)" "p.(=)" "" "0000532561" "00001055" "10" "1096" "45" "1096" "50" "c.1096+45_1096+50dup" "r.(=)" "p.(=)" "" "0000532562" "00001055" "10" "1096" "45" "1096" "50" "c.1096+45_1096+50dup" "r.(=)" "p.(=)" "" "0000532563" "00001055" "10" "1096" "47" "1096" "50" "c.1096+47_1096+50dup" "r.(=)" "p.(=)" "" "0000532564" "00001055" "10" "1096" "47" "1096" "50" "c.1096+47_1096+50dup" "r.(=)" "p.(=)" "" "0000532565" "00001055" "50" "1129" "0" "1129" "0" "c.1129G>T" "r.(?)" "p.(Ala377Ser)" "" "0000532566" "00001055" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Tyr383=)" "" "0000532567" "00001055" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Tyr383=)" "" "0000532568" "00001055" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Tyr383=)" "" "0000532569" "00001055" "50" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Arg)" "" "0000532570" "00001055" "50" "1150" "1" "1150" "1" "c.1150+1G>A" "r.spl?" "p.?" "" "0000532571" "00001055" "50" "1178" "0" "1201" "0" "c.1178_1201del" "r.(?)" "p.(Gly393_Gly400del)" "" "0000532572" "00001055" "30" "1185" "0" "1185" "0" "c.1185T>G" "r.(?)" "p.(Pro395=)" "" "0000532573" "00001055" "30" "1232" "0" "1232" "0" "c.1232T>G" "r.(?)" "p.(Val411Gly)" "" "0000532574" "00001055" "30" "1232" "0" "1232" "0" "c.1232T>G" "r.(?)" "p.(Val411Gly)" "" "0000532575" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>G" "r.(?)" "p.(Val423=)" "" "0000532576" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>G" "r.(?)" "p.(Val423=)" "" "0000532577" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Val423=)" "" "0000532578" "00001055" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Gly424Arg)" "" "0000532579" "00001055" "50" "1358" "-258" "1358" "-258" "c.1358-258G>T" "r.(=)" "p.(=)" "" "0000532580" "00001055" "30" "1358" "-253" "1358" "-253" "c.1358-253G>A" "r.(=)" "p.(=)" "" "0000532581" "00001055" "30" "1358" "-199" "1358" "-199" "c.1358-199G>A" "r.(=)" "p.(=)" "" "0000532582" "00001055" "30" "1358" "-198" "1358" "-198" "c.1358-198G>A" "r.(=)" "p.(=)" "" "0000532583" "00001055" "30" "1358" "-186" "1358" "-186" "c.1358-186C>T" "r.(=)" "p.(=)" "" "0000532584" "00001055" "30" "1358" "-185" "1358" "-185" "c.1358-185G>A" "r.(=)" "p.(=)" "" "0000532585" "00001055" "50" "1366" "0" "1366" "0" "c.1366A>G" "r.(?)" "p.(Thr456Ala)" "" "0000532586" "00001055" "50" "1385" "0" "1385" "0" "c.1385C>A" "r.(?)" "p.(Ala462Asp)" "" "0000532588" "00001055" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Gly478Ser)" "" "0000532590" "00001055" "30" "1464" "0" "1464" "0" "c.1464T>A" "r.(?)" "p.(Gly488=)" "" "0000532591" "00001055" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Val489=)" "" "0000532593" "00001055" "30" "1489" "0" "1489" "0" "c.1489T>G" "r.(?)" "p.(Leu497Val)" "" "0000532594" "00001055" "50" "1489" "0" "1506" "0" "c.1489_1506del" "r.(?)" "p.(Leu497_Gly502del)" "" "0000532595" "00001055" "30" "1500" "0" "1500" "0" "c.1500A>T" "r.(?)" "p.(Gly500=)" "" "0000532596" "00001055" "30" "1503" "0" "1503" "0" "c.1503T>C" "r.(?)" "p.(Val501=)" "" "0000532597" "00001055" "30" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Gly502=)" "" "0000532598" "00001055" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "" "0000532599" "00001055" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "" "0000532600" "00001055" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "" "0000532601" "00001055" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "" "0000532602" "00001055" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "" "0000532603" "00001055" "30" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Ile)" "" "0000532604" "00001055" "30" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Met)" "" "0000532605" "00001055" "30" "1564" "0" "1564" "0" "c.1564G>C" "r.(?)" "p.(Gly522Arg)" "" "0000532606" "00001055" "30" "1576" "10" "1576" "10" "c.1576+10A>T" "r.(=)" "p.(=)" "" "0000532607" "00001055" "10" "1622" "-13" "1622" "-13" "c.1622-13C>T" "r.(=)" "p.(=)" "" "0000532608" "00001055" "30" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Gly581Arg)" "" "0000532609" "00001055" "30" "1747" "92" "1747" "92" "c.1747+92A>C" "r.(=)" "p.(=)" "" "0000532610" "00001055" "30" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Ala586Ser)" "" "0000532611" "00001055" "50" "1778" "0" "1778" "0" "c.1778C>A" "r.(?)" "p.(Ala593Asp)" "" "0000532612" "00001055" "30" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Ser)" "" "0000532613" "00001055" "30" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Gly617Ser)" "" "0000532614" "00001055" "30" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Ala621Thr)" "" "0000532615" "00001055" "30" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Ala621Thr)" "" "0000532616" "00001055" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Ala625Thr)" "" "0000532617" "00001055" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Ala628=)" "" "0000532618" "00001055" "30" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Ala645Thr)" "" "0000532620" "00001055" "50" "1994" "-7" "1994" "-7" "c.1994-7T>G" "r.(=)" "p.(=)" "" "0000532621" "00001055" "10" "2086" "5" "2086" "5" "c.2086+5G>C" "r.spl?" "p.?" "" "0000532622" "00001055" "10" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000595122" "00001055" "90" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Gly54*)" "" "0000611179" "00001055" "30" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Pro88=)" "" "0000611180" "00001055" "30" "414" "0" "414" "0" "c.414T>C" "r.(?)" "p.(Pro138=)" "" "0000611181" "00001055" "30" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Ile)" "" "0000611182" "00001055" "30" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Pro331Leu)" "" "0000611183" "00001055" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Gln442Ter)" "" "0000611184" "00001055" "30" "1467" "0" "1467" "0" "c.1467C>A" "r.(?)" "p.(Val489=)" "" "0000611185" "00001055" "30" "1470" "0" "1470" "0" "c.1470T>A" "r.(?)" "p.(Gly490=)" "" "0000611186" "00001055" "50" "1710" "0" "1736" "0" "c.1710_1736del" "r.(?)" "p.(Leu571_Gly579del)" "" "0000611187" "00001055" "30" "1710" "0" "1736" "0" "c.1710_1736del" "r.(?)" "p.(Leu571_Gly579del)" "" "0000611188" "00001055" "30" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Leu641=)" "" "0000611189" "00001055" "30" "1994" "-7" "1994" "-7" "c.1994-7T>G" "r.(=)" "p.(=)" "" "0000611190" "00001055" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Phe703=)" "" "0000621919" "00001055" "30" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Gly216Val)" "" "0000621920" "00001055" "30" "1919" "-10" "1919" "-10" "c.1919-10G>C" "r.(=)" "p.(=)" "" "0000652352" "00001055" "90" "1918" "1" "1918" "1" "c.1918+1G>A" "r.spl?" "p.?" "" "0000652353" "00001055" "50" "2132" "-7" "2132" "-7" "c.2132-7C>A" "r.(=)" "p.(=)" "" "0000655874" "00001055" "30" "196" "13" "196" "13" "c.196+13G>C" "r.(=)" "p.(=)" "" "0000655875" "00001055" "30" "197" "-174" "197" "-174" "c.197-174A>G" "r.(=)" "p.(=)" "" "0000655876" "00001055" "30" "232" "3" "232" "3" "c.232+3G>A" "r.spl?" "p.?" "" "0000655877" "00001055" "30" "746" "-15" "746" "-15" "c.746-15G>C" "r.(=)" "p.(=)" "" "0000655878" "00001055" "50" "912" "0" "923" "0" "c.912_923del" "r.(?)" "p.(Ala308_Ala311del)" "" "0000655879" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>G" "r.(?)" "p.(Val423=)" "" "0000655880" "00001055" "30" "1746" "0" "1746" "0" "c.1746A>G" "r.(?)" "p.(Ala582=)" "" "0000655881" "00001055" "30" "1787" "-98" "1787" "-98" "c.1787-98A>C" "r.(=)" "p.(=)" "" "0000655882" "00001055" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Leu606=)" "" "0000655883" "00001055" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Ala628=)" "" "0000655884" "00001055" "30" "2132" "-229" "2132" "-229" "c.2132-229C>T" "r.(=)" "p.(=)" "" "0000678164" "00001055" "30" "134" "-7" "134" "-7" "c.134-7C>A" "r.(=)" "p.(=)" "" "0000678165" "00001055" "30" "134" "-5" "134" "-5" "c.134-5C>T" "r.spl?" "p.?" "" "0000678166" "00001055" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "0000678167" "00001055" "50" "1192" "0" "1192" "0" "c.1192G>C" "r.(?)" "p.(Gly398Arg)" "" "0000678168" "00001055" "30" "1357" "112" "1357" "112" "c.1357+112A>C" "r.(=)" "p.(=)" "" "0000678169" "00001055" "30" "1747" "83" "1747" "83" "c.1747+83C>T" "r.(=)" "p.(=)" "" "0000678170" "00001055" "90" "1888" "0" "1888" "0" "c.1888del" "r.(?)" "p.(Ala630ProfsTer12)" "" "0000690061" "00001055" "30" "83" "-105" "83" "-105" "c.83-105A>C" "r.(=)" "p.(=)" "" "0000690062" "00001055" "30" "233" "-8" "233" "-8" "c.233-8C>T" "r.(=)" "p.(=)" "" "0000690063" "00001055" "30" "1097" "-321" "1097" "-321" "c.1097-321G>A" "r.(=)" "p.(=)" "" "0000690064" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Val423=)" "" "0000690065" "00001055" "10" "1338" "0" "1338" "0" "c.1338C>T" "r.(?)" "p.(Ala446=)" "" "0000690066" "00001055" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721Gln)" "" "0000721531" "00001055" "30" "159" "0" "159" "0" "c.159A>T" "r.(?)" "p.(Gly53=)" "" "0000721532" "00001055" "30" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Pro161=)" "" "0000721533" "00001055" "30" "541" "311" "541" "311" "c.541+311A>G" "r.(=)" "p.(=)" "" "0000721534" "00001055" "30" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Pro198=)" "" "0000721535" "00001055" "10" "1096" "41" "1096" "50" "c.1096+41_1096+50dup" "r.(=)" "p.(=)" "" "0000721536" "00001055" "10" "1096" "49" "1096" "50" "c.1096+49_1096+50dup" "r.(=)" "p.(=)" "" "0000721537" "00001055" "50" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Val391Phe)" "" "0000721538" "00001055" "30" "1358" "-410" "1358" "-410" "c.1358-410T>C" "r.(=)" "p.(=)" "" "0000721539" "00001055" "30" "1537" "0" "1554" "0" "c.1537_1554dup" "r.(?)" "p.(Val513_Gly518dup)" "" "0000721540" "00001055" "50" "1747" "92" "1747" "92" "c.1747+92A>C" "r.(=)" "p.(=)" "" "0000721541" "00001055" "30" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Val652=)" "" "0000803232" "00001055" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "0000803233" "00001055" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Ile)" "" "0000803234" "00001055" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Ser)" "" "0000803235" "00001055" "30" "1414" "11" "1414" "11" "c.1414+11dup" "r.(=)" "p.(=)" "" "0000803236" "00001055" "50" "1778" "0" "1778" "0" "c.1778C>A" "r.(?)" "p.(Ala593Asp)" "" "0000831735" "00001055" "50" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Arg)" "" "0000831736" "00001055" "50" "1150" "1" "1150" "1" "c.1150+1G>A" "r.spl" "p.?" "" "0000831737" "00001055" "50" "1489" "0" "1506" "0" "c.1489_1506del" "r.(?)" "p.(Leu497_Gly502del)" "" "0000841186" "00001055" "90" "0" "0" "0" "0" "c.-91_*1207{0}" "r.0" "p.0" "_1_33_" "0000851659" "00001055" "90" "26" "0" "33" "0" "c.26_33del" "r.(?)" "p.(Pro9Argfs*53)" "" "0000851660" "00001055" "30" "1621" "11" "1621" "11" "c.1621+11C>T" "r.(=)" "p.(=)" "" "0000860896" "00001055" "50" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Ala55Glu)" "" "0000860897" "00001055" "50" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Pro433Leu)" "" "0000860898" "00001055" "30" "2086" "5" "2086" "5" "c.2086+5G>C" "r.spl?" "p.?" "" "0000887966" "00001055" "50" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Pro245Gln)" "" "0000887967" "00001055" "50" "881" "0" "881" "0" "c.881G>C" "r.(?)" "p.(Gly294Ala)" "" "0000887968" "00001055" "10" "1096" "49" "1096" "50" "c.1096+49_1096+50dup" "r.(=)" "p.(=)" "" "0000887969" "00001055" "50" "1178" "0" "1201" "0" "c.1178_1201del" "r.(?)" "p.(Gly393_Gly400del)" "" "0000887970" "00001055" "10" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Ser)" "" "0000887971" "00001055" "30" "2121" "0" "2121" "0" "c.2121C>T" "r.(?)" "p.(Pro707=)" "" "0000912789" "00001055" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Gly428Arg)" "" "0000912790" "00001055" "50" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Ser)" "" "0000912791" "00001055" "50" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Trp)" "" "0000912792" "00001055" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721Gln)" "" "0000924751" "00001055" "30" "414" "0" "414" "0" "c.414T>C" "r.(?)" "p.(Pro138=)" "" "0000936228" "00001055" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "0000948943" "00001055" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000948944" "00001055" "70" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Gly197*)" "" "0000948945" "00001055" "50" "1358" "-199" "1358" "-199" "c.1358-199G>A" "r.(=)" "p.(=)" "" "0000948946" "00001055" "50" "1606" "0" "1606" "0" "c.1606G>T" "r.(?)" "p.(Ala536Ser)" "" "0000960290" "00001055" "70" "325" "5" "325" "5" "c.325+5G>C" "r.(?)" "p.(?)" "" "0000964665" "00001055" "50" "431" "0" "431" "0" "c.431T>G" "r.(?)" "p.(Val144Gly)" "" "0000964667" "00001055" "10" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Ala621Thr)" "" "0000964668" "00001055" "50" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Asp)" "" "0000972393" "00001055" "50" "2132" "-7" "2132" "-7" "c.2132-7C>A" "r.(?)" "p.(?)" "" "0000977828" "00001055" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" "0000977829" "00001055" "30" "134" "-7" "134" "-7" "c.134-7C>A" "r.(=)" "p.(=)" "" "0000977831" "00001055" "30" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Gly216Val)" "" "0000977832" "00001055" "50" "1357" "2" "1357" "2" "c.1357+2dup" "r.spl?" "p.?" "" "0000977833" "00001055" "30" "1415" "-21" "1415" "-21" "c.1415-21C>T" "r.(=)" "p.(=)" "" "0000977834" "00001055" "30" "1564" "0" "1564" "0" "c.1564G>C" "r.(?)" "p.(Gly522Arg)" "" "0000977835" "00001055" "50" "1606" "0" "1606" "0" "c.1606G>T" "r.(?)" "p.(Ala536Ser)" "" "0000977836" "00001055" "50" "1787" "-5" "1787" "-5" "c.1787-5C>A" "r.spl?" "p.?" "" "0000977837" "00001055" "30" "2132" "-5" "2132" "-5" "c.2132-5T>A" "r.spl?" "p.?" "" "0000996638" "00001055" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000996639" "00001055" "50" "881" "0" "881" "0" "c.881G>C" "r.(?)" "p.(Gly294Ala)" "" "0000996640" "00001055" "50" "1216" "0" "1216" "0" "c.1216G>C" "r.(?)" "p.(Gly406Arg)" "" "0000996641" "00001055" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0000996642" "00001055" "30" "1358" "-244" "1358" "-244" "c.1358-244G>A" "r.(=)" "p.(=)" "" "0000996643" "00001055" "50" "1606" "0" "1606" "0" "c.1606G>T" "r.(?)" "p.(Ala536Ser)" "" "0000996644" "00001055" "30" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Gly617Ser)" "" "0000996645" "00001055" "30" "1927" "0" "1927" "0" "c.1927G>T" "r.(?)" "p.(Gly643*)" "" "0000996646" "00001055" "50" "1956" "0" "1970" "0" "c.1956_1970del" "r.(?)" "p.(Gly653_Val657del)" "" "0000996647" "00001055" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0001020264" "00001055" "30" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Ala621Thr)" "" "0001025425" "00001055" "30" "133" "16" "133" "16" "c.133+16C>A" "r.(=)" "p.(=)" "" "0001025426" "00001055" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Gly49Arg)" "" "0001025427" "00001055" "30" "1622" "-13" "1622" "-13" "c.1622-13C>T" "r.(=)" "p.(=)" "" "0001029769" "00001055" "50" "2086" "1" "2086" "1" "c.2086+1G>A" "r.(?)" "p.(?)" "" "0001030042" "00001055" "50" "1183" "0" "1183" "0" "c.1183C>A" "r.(?)" "p.(Pro395Thr)" "" "0001036507" "00001055" "50" "326" "-1" "326" "-1" "c.326-1G>A" "r.spl?" "p.?" "" "0001036508" "00001055" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "0001036509" "00001055" "50" "771" "0" "773" "0" "c.771_773dup" "r.(?)" "p.(Ala260dup)" "" "0001036510" "00001055" "10" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Ala311Thr)" "" "0001036511" "00001055" "30" "1269" "0" "1269" "0" "c.1269C>G" "r.(?)" "p.(Val423=)" "" "0001036512" "00001055" "30" "1358" "-162" "1358" "-162" "c.1358-162G>C" "r.(=)" "p.(=)" "" "0001036513" "00001055" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(=)" "" "0001036514" "00001055" "50" "1446" "0" "1463" "0" "c.1446_1463del" "r.(?)" "p.(Val491_Gly496del)" "" "0001036515" "00001055" "50" "1577" "-2" "1577" "-2" "c.1577-2A>T" "r.spl?" "p.?" "" "0001036516" "00001055" "50" "1859" "-15" "1859" "-15" "c.1859-15G>A" "r.(=)" "p.(=)" "" "0001046127" "00001055" "30" "134" "-6" "134" "-6" "c.134-6C>A" "r.(=)" "p.(=)" "" "0001047077" "00001055" "50" "1577" "-2" "1577" "-2" "c.1577-2A>T" "r.(?)" "p.(?)" "" "0001052701" "00001055" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Tyr383=)" "" "0001052702" "00001055" "30" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Ile)" "" "0001052703" "00001055" "10" "1566" "0" "1566" "0" "c.1566T>A" "r.(?)" "p.(Gly522=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012501" "0000029085" "0000052436" "0000029086" "0000052437" "0000029087" "0000052438" "0000029088" "0000052439" "0000104414" "0000169139" "0000264547" "0000595122" "0000295663" "0000652352" "0000295664" "0000652353" "0000399374" "0000831735" "0000399375" "0000831736" "0000399376" "0000831737" "0000405125" "0000841186" "0000440070" "0000936228" "0000466171" "0001030042"