### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LTBP3) # 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}}" "LTBP3" "latent transforming growth factor beta binding protein 3" "11" "q12" "unknown" "NG_016437.1" "UD_132084561277" "" "http://www.LOVD.nl/LTBP3" "" "1" "6716" "4054" "602090" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LTBP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 11:56:17" "00000" "2025-07-08 13:22:38" ## 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}}" "00024184" "LTBP3" "transcript variant 1" "003" "NM_001130144.2" "" "NP_001123616.1" "" "" "" "-269" "4433" "3912" "65325699" "65306030" "00006" "2016-10-14 11:54:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03251" "STHAG6" "agenesis, tooth, selective, type 6 (STHAG-6)" "" "613097" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04565" "DASS" "dental anomalies and short stature (DASS)" "AR" "601216" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05559" "BCYM" "brachyolmia (BCYM)" "" "" "" "" "" "00006" "2019-02-07 09:57:06" "" "" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" "06120" "GPHYSD3" "Geleophysic dysplasia 3" "AD" "617809" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LTBP3" "03251" "LTBP3" "04565" "LTBP3" "06120" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00081438" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00331509" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "no" "" "" "0" "" "" "Arab" "13DG0458" "00378073" "" "" "" "1" "" "04044" "{PMID:Flex 2021:34573388}, {DOI:Flex 2021:10.3390/genes12091406}" "" "M" "yes" "Peru" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00081438" "05155" "00331509" "05517" "00378073" "05559" "00378073" "05650" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03251, 04565, 05155, 05517, 05559, 05650, 06120 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061040" "05155" "00081438" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum,\r\nlocalized at the thoracolumbar" "" "" "" "" "" "" "" "" "" "0000249701" "05517" "00331509" "00000" "Familial, autosomal recessive" "" "Short stature, Abnormality of the dentition" "" "" "" "" "" "" "" "" "skeletal dysplasia" "0000273214" "05559" "00378073" "04044" "Familial, autosomal recessive" "" "short stature, short trunk, scoliosis, lordosis, facial dysmorphisms, lower limbs diplegia, platyspondly" "03y" "" "" "" "" "" "" "brachyolmia with amelogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081583" "00081438" "1" "01783" "01783" "2016-10-14 04:15:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000332728" "00331509" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000379273" "00378073" "1" "04044" "04044" "2021-08-04 12:06:11" "00006" "2021-11-08 14:01:17" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081583" "LTBP3" "0000332728" "LTBP3" "0000379273" "LTBP3" ## 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 = 205 "{{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}}" "0000132247" "0" "50" "11" "65318943" "65318943" "subst" "5.28984E-5" "01783" "LTBP3_000001" "g.65318943C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.65551472C>T" "" "VUS" "" "0000286048" "0" "30" "11" "65307643" "65307643" "subst" "0" "02326" "LTBP3_000002" "g.65307643T>G" "" "" "" "LTBP3(NM_001130144.2):c.3245-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65540172T>G" "" "likely benign" "" "0000291246" "0" "30" "11" "65319712" "65319712" "subst" "0.00038993" "01943" "LTBP3_000005" "g.65319712G>A" "" "" "" "LTBP3(NM_001130144.2):c.1345+7C>T, LTBP3(NM_001130144.3):c.1345+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65552241G>A" "" "likely benign" "" "0000291247" "0" "30" "11" "65318944" "65318944" "subst" "0.00024821" "01943" "LTBP3_000004" "g.65318944G>A" "" "" "" "LTBP3(NM_001130144.2):c.1550C>T (p.P517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65551473G>A" "" "likely benign" "" "0000291248" "0" "30" "11" "65307982" "65307982" "subst" "8.1471E-6" "01943" "LTBP3_000003" "g.65307982G>A" "" "" "" "LTBP3(NM_001130144.2):c.3081C>T (p.Y1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65540511G>A" "" "likely benign" "" "0000344259" "0" "50" "11" "65321792" "65321792" "subst" "0" "02327" "LTBP3_000006" "g.65321792A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65554321A>C" "" "VUS" "" "0000544967" "0" "50" "11" "65294301" "65294301" "subst" "7.32607E-5" "01943" "LTBP3_000008" "g.65294301A>G" "" "" "" "SCYL1(NM_020680.3):c.650A>G (p.N217S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65526830A>G" "" "VUS" "" "0000544968" "0" "30" "11" "65294542" "65294542" "subst" "4.06507E-5" "01804" "LTBP3_000009" "g.65294542T>C" "" "" "" "SCYL1(NM_001048218.1):c.803T>C (p.(Met268Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65527071T>C" "" "likely benign" "" "0000544971" "0" "30" "11" "65298213" "65298213" "subst" "1.21954E-5" "01943" "LTBP3_000012" "g.65298213C>T" "" "" "" "SCYL1(NM_020680.3):c.963C>T (p.F321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65530742C>T" "" "likely benign" "" "0000544974" "0" "30" "11" "65305564" "65305564" "subst" "0.0025249" "01804" "LTBP3_000015" "g.65305564C>T" "" "" "" "SCYL1(NM_020680.3):c.2158C>T (p.R720W), SCYL1(NM_020680.4):c.2158C>T (p.(Arg720Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65538093C>T" "" "likely benign" "" "0000544975" "0" "30" "11" "65306717" "65306717" "subst" "0.000550594" "02326" "LTBP3_000016" "g.65306717G>A" "" "" "" "LTBP3(NM_001130144.2):c.3761-15C>T, LTBP3(NM_001130144.3):c.3761-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539246G>A" "" "likely benign" "" "0000544976" "0" "30" "11" "65306818" "65306818" "subst" "6.0518E-5" "01943" "LTBP3_000017" "g.65306818G>A" "" "" "" "LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539347G>A" "" "likely benign" "" "0000544977" "0" "50" "11" "65306826" "65306826" "subst" "0" "01943" "LTBP3_000018" "g.65306826G>A" "" "" "" "LTBP3(NM_001130144.2):c.3733C>T (p.L1245F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539355G>A" "" "VUS" "" "0000544978" "0" "30" "11" "65307083" "65307083" "subst" "4.16472E-6" "01943" "LTBP3_000019" "g.65307083T>C" "" "" "" "LTBP3(NM_001130144.2):c.3564A>G (p.T1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539612T>C" "" "likely benign" "" "0000544979" "0" "30" "11" "65307330" "65307330" "subst" "0.000146579" "02326" "LTBP3_000020" "g.65307330G>A" "" "" "" "LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539859G>A" "" "likely benign" "" "0000544980" "0" "30" "11" "65307356" "65307356" "subst" "0.000115201" "01943" "LTBP3_000021" "g.65307356C>T" "" "" "" "LTBP3(NM_001130144.2):c.3386-4G>A, LTBP3(NM_001130144.3):c.3386-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539885C>T" "" "likely benign" "" "0000544981" "0" "50" "11" "65307562" "65307562" "subst" "0" "01943" "LTBP3_000022" "g.65307562A>C" "" "" "" "LTBP3(NM_001130144.2):c.3307T>G (p.S1103A), LTBP3(NM_001130144.3):c.3307T>G (p.S1103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65540091A>C" "" "VUS" "" "0000544984" "0" "50" "11" "65314329" "65314329" "subst" "0" "02327" "LTBP3_000025" "g.65314329T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65546858T>A" "" "VUS" "" "0000544985" "0" "10" "11" "65314902" "65314902" "subst" "0.0704008" "02329" "LTBP3_000026" "g.65314902C>T" "" "" "" "LTBP3(NM_001130144.3):c.2107+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65547431C>T" "" "benign" "" "0000544986" "0" "50" "11" "65315000" "65315008" "del" "0" "02329" "LTBP3_000027" "g.65315000_65315008del" "" "" "" "LTBP3(NM_001130144.2):c.2014_2022delGACGGCGGC (p.D672_G674del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65547529_65547537del" "" "VUS" "" "0000544987" "0" "30" "11" "65318961" "65318961" "subst" "0.000207403" "02326" "LTBP3_000028" "g.65318961G>T" "" "" "" "LTBP3(NM_001130144.2):c.1549-16C>A, LTBP3(NM_001130144.3):c.1549-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65551490G>T" "" "likely benign" "" "0000544988" "0" "10" "11" "65319751" "65319751" "subst" "0.0700185" "02329" "LTBP3_000029" "g.65319751G>A" "" "" "" "LTBP3(NM_001130144.3):c.1313C>T (p.A438V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552280G>A" "" "benign" "" "0000544989" "0" "50" "11" "65319803" "65319803" "subst" "0" "01943" "LTBP3_000030" "g.65319803T>G" "" "" "" "LTBP3(NM_001130144.2):c.1261A>C (p.T421P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552332T>G" "" "VUS" "" "0000544990" "0" "30" "11" "65320463" "65320463" "subst" "0.00106443" "02326" "LTBP3_000031" "g.65320463G>A" "" "" "" "LTBP3(NM_001130144.2):c.1064-10C>T, LTBP3(NM_001130144.3):c.1064-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552992G>A" "" "likely benign" "" "0000544991" "0" "10" "11" "65321232" "65321232" "subst" "0.0130119" "02329" "LTBP3_000032" "g.65321232G>A" "" "" "" "LTBP3(NM_001130144.3):c.804C>T (p.P268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65553761G>A" "" "benign" "" "0000544992" "0" "30" "11" "65321383" "65321383" "subst" "0" "01943" "LTBP3_000033" "g.65321383G>A" "" "" "" "LTBP3(NM_001130144.2):c.662-9C>T, LTBP3(NM_001130144.3):c.662-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65553912G>A" "" "likely benign" "" "0000544996" "0" "30" "11" "65325351" "65325356" "dup" "0" "02326" "LTBP3_000037" "g.65325351_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.100_105dupCTGCTG (p.L34_L35dup), LTBP3(NM_001130144.2):c.94_99dupCTGCTG (p.L34_L35dup), LTBP3(NM_001130144.3):c.100_105dupC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557880_65557885dup" "" "likely benign" "" "0000544997" "0" "30" "11" "65325354" "65325356" "del" "0" "01804" "LTBP3_000038" "g.65325354_65325356del" "" "" "" "LTBP3(NM_001130144.2):c.103_105del (p.(Leu35del)), LTBP3(NM_001130144.2):c.103_105delCTG (p.L35del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557883_65557885del" "" "likely benign" "" "0000544998" "0" "10" "11" "65325354" "65325356" "dup" "0" "02325" "LTBP3_000039" "g.65325354_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.103_105dupCTG (p.L35dup), LTBP3(NM_001130144.3):c.103_105dupCTG (p.L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557883_65557885dup" "" "benign" "" "0000544999" "0" "30" "11" "65325354" "65325356" "dup" "0" "02326" "LTBP3_000039" "g.65325354_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.103_105dupCTG (p.L35dup), LTBP3(NM_001130144.3):c.103_105dupCTG (p.L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557883_65557885dup" "" "likely benign" "" "0000545000" "0" "30" "11" "65325357" "65325357" "subst" "0" "01804" "LTBP3_000040" "g.65325357G>A" "" "" "" "LTBP3(NM_001130144.2):c.74C>T (p.(Ala25Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557886G>A" "" "likely benign" "" "0000613546" "0" "30" "11" "65298145" "65298145" "subst" "0.000442927" "01943" "LTBP3_000041" "g.65298145A>G" "" "" "" "SCYL1(NM_020680.3):c.895A>G (p.K299E), SCYL1(NM_020680.4):c.895A>G (p.K299E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65530674A>G" "" "likely benign" "" "0000613547" "0" "30" "11" "65304049" "65304049" "subst" "0.00013429" "01943" "LTBP3_000042" "g.65304049C>T" "" "" "" "SCYL1(NM_020680.3):c.1652-8C>T, SCYL1(NM_020680.4):c.1652-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65536578C>T" "" "likely benign" "" "0000613548" "0" "50" "11" "65307087" "65307087" "subst" "0" "01943" "LTBP3_000044" "g.65307087G>C" "" "" "" "LTBP3(NM_001130144.2):c.3560C>G (p.P1187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539616G>C" "" "VUS" "" "0000613549" "0" "30" "11" "65307330" "65307330" "subst" "0.000146579" "01943" "LTBP3_000020" "g.65307330G>A" "" "" "" "LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539859G>A" "" "likely benign" "" "0000613550" "0" "30" "11" "65307628" "65307628" "subst" "8.85027E-5" "01943" "LTBP3_000046" "g.65307628C>T" "" "" "" "LTBP3(NM_001130144.2):c.3245-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65540157C>T" "" "likely benign" "" "0000613551" "0" "50" "11" "65307815" "65307815" "subst" "0" "01943" "LTBP3_000047" "g.65307815C>T" "" "" "" "LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65540344C>T" "" "VUS" "" "0000613552" "0" "50" "11" "65318623" "65318623" "subst" "0" "01943" "LTBP3_000049" "g.65318623A>T" "" "" "" "LTBP3(NM_001130144.2):c.1694T>A (p.V565E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65551152A>T" "" "VUS" "" "0000613553" "0" "30" "11" "65319519" "65319519" "subst" "8.93423E-5" "01943" "LTBP3_000050" "g.65319519G>A" "" "" "" "LTBP3(NM_001130144.2):c.1455C>T (p.D485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552048G>A" "" "likely benign" "" "0000613554" "0" "30" "11" "65320353" "65320353" "subst" "0" "01943" "LTBP3_000051" "g.65320353G>C" "" "" "" "LTBP3(NM_001130144.2):c.1164C>G (p.G388=), LTBP3(NM_001130144.3):c.1164C>G (p.G388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552882G>C" "" "likely benign" "" "0000613555" "0" "30" "11" "65325348" "65325356" "dup" "0" "01943" "LTBP3_000055" "g.65325348_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.97_105dupCTGCTGCTG (p.L33_L35dup), LTBP3(NM_001130144.3):c.97_105dupCTGCTGCTG (p.L33_L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557877_65557885dup" "" "likely benign" "" "0000613556" "0" "30" "11" "65325348" "65325356" "dup" "0" "02325" "LTBP3_000055" "g.65325348_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.97_105dupCTGCTGCTG (p.L33_L35dup), LTBP3(NM_001130144.3):c.97_105dupCTGCTGCTG (p.L33_L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557877_65557885dup" "" "likely benign" "" "0000622671" "0" "30" "11" "65304520" "65304520" "subst" "0.00460279" "01943" "LTBP3_000043" "g.65304520C>T" "" "" "" "SCYL1(NM_020680.3):c.1880C>T (p.T627M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65537049C>T" "" "likely benign" "" "0000622672" "0" "30" "11" "65307303" "65307303" "subst" "0.0011498" "01943" "LTBP3_000045" "g.65307303G>A" "" "" "" "LTBP3(NM_001130144.2):c.3435C>T (p.D1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539832G>A" "" "likely benign" "" "0000622673" "0" "30" "11" "65315503" "65315503" "subst" "2.84557E-5" "01943" "LTBP3_000048" "g.65315503G>A" "" "" "" "LTBP3(NM_001130144.2):c.1734C>T (p.C578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65548032G>A" "" "likely benign" "" "0000622674" "0" "30" "11" "65320697" "65320697" "subst" "8.12308E-6" "01943" "LTBP3_000052" "g.65320697C>T" "" "" "" "LTBP3(NM_001130144.2):c.1001G>A (p.R334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65553226C>T" "" "likely benign" "" "0000622675" "0" "30" "11" "65321729" "65321729" "subst" "0.000228032" "01943" "LTBP3_000053" "g.65321729C>T" "" "" "" "LTBP3(NM_001130144.2):c.454G>A (p.G152S), LTBP3(NM_001130144.3):c.454G>A (p.G152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65554258C>T" "" "likely benign" "" "0000622676" "0" "50" "11" "65325342" "65325356" "dup" "0" "01943" "LTBP3_000054" "g.65325342_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.91_105dupCTGCTGCTGCTGCTG (p.L31_L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557871_65557885dup" "" "VUS" "" "0000656847" "0" "50" "11" "65306604" "65306604" "subst" "0.000250468" "01943" "LTBP3_000056" "g.65306604C>T" "" "" "" "LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65539133C>T" "" "VUS" "" "0000656848" "0" "50" "11" "65308020" "65308020" "subst" "0" "01943" "LTBP3_000057" "g.65308020G>C" "" "" "" "LTBP3(NM_001130144.2):c.3043C>G (p.P1015A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65540549G>C" "" "VUS" "" "0000656849" "0" "30" "11" "65318672" "65318672" "subst" "5.41074E-5" "01943" "LTBP3_000058" "g.65318672G>C" "" "" "" "LTBP3(NM_001130144.2):c.1645C>G (p.P549A, p.(Pro549Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65551201G>C" "" "likely benign" "" "0000656850" "0" "50" "11" "65320359" "65320359" "subst" "0.0001462" "01943" "LTBP3_000059" "g.65320359A>T" "" "" "" "LTBP3(NM_001130144.2):c.1158T>A (p.S386R), LTBP3(NM_001130144.3):c.1158T>A (p.(Ser386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65552888A>T" "" "VUS" "" "0000656851" "0" "50" "11" "65321328" "65321328" "subst" "0.000819006" "01943" "LTBP3_000060" "g.65321328G>T" "" "" "" "LTBP3(NM_001130144.2):c.708C>A (p.P236=), LTBP3(NM_001130144.3):c.708C>A (p.(Pro236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65553857G>T" "" "VUS" "" "0000656852" "0" "30" "11" "65325348" "65325356" "dup" "0" "02326" "LTBP3_000055" "g.65325348_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.97_105dupCTGCTGCTG (p.L33_L35dup), LTBP3(NM_001130144.3):c.97_105dupCTGCTGCTG (p.L33_L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65557877_65557885dup" "" "likely benign" "" "0000679263" "0" "50" "11" "65305564" "65305564" "subst" "0.0025249" "01943" "LTBP3_000015" "g.65305564C>T" "" "" "" "SCYL1(NM_020680.3):c.2158C>T (p.R720W), SCYL1(NM_020680.4):c.2158C>T (p.(Arg720Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679264" "0" "30" "11" "65314303" "65314303" "subst" "0" "01943" "LTBP3_000061" "g.65314303A>C" "" "" "" "LTBP3(NM_001130144.2):c.2196T>G (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679265" "0" "50" "11" "65315427" "65315427" "subst" "4.07057E-6" "01943" "LTBP3_000062" "g.65315427C>T" "" "" "" "LTBP3(NM_001130144.2):c.1810G>A (p.G604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679266" "0" "30" "11" "65318672" "65318672" "subst" "5.41074E-5" "01804" "LTBP3_000058" "g.65318672G>C" "" "" "" "LTBP3(NM_001130144.2):c.1645C>G (p.P549A, p.(Pro549Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679267" "0" "30" "11" "65319750" "65319750" "subst" "0.000840841" "01943" "LTBP3_000063" "g.65319750C>T" "" "" "" "LTBP3(NM_001130144.2):c.1314G>A (p.A438=), LTBP3(NM_001130144.3):c.1314G>A (p.A438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679268" "0" "30" "11" "65320463" "65320463" "subst" "0.00106443" "01943" "LTBP3_000031" "g.65320463G>A" "" "" "" "LTBP3(NM_001130144.2):c.1064-10C>T, LTBP3(NM_001130144.3):c.1064-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691126" "0" "30" "11" "65305450" "65305450" "subst" "0.00116893" "01943" "LTBP3_000064" "g.65305450G>A" "" "" "" "SCYL1(NM_020680.3):c.2044G>A (p.D682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691127" "0" "30" "11" "65308027" "65308027" "subst" "2.8484E-5" "01943" "LTBP3_000065" "g.65308027G>A" "" "" "" "LTBP3(NM_001130144.2):c.3036C>T (p.N1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691128" "0" "30" "11" "65310670" "65310670" "subst" "0" "02326" "LTBP3_000066" "g.65310670T>C" "" "" "" "LTBP3(NM_001130144.2):c.2502A>G (p.A834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723580" "0" "30" "11" "65305634" "65305634" "subst" "4.8771E-6" "01943" "LTBP3_000067" "g.65305634C>G" "" "" "" "SCYL1(NM_020680.3):c.2228C>G (p.S743C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723581" "0" "50" "11" "65306588" "65306588" "subst" "0" "01943" "LTBP3_000068" "g.65306588C>T" "" "" "" "LTBP3(NM_001130144.2):c.3875G>A (p.R1292H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723582" "0" "30" "11" "65308406" "65308406" "subst" "2.47034E-5" "01943" "LTBP3_000069" "g.65308406G>A" "" "" "" "LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723583" "0" "50" "11" "65308434" "65308439" "del" "0" "01943" "LTBP3_000070" "g.65308434_65308439del" "" "" "" "LTBP3(NM_001130144.2):c.2894-8_2894-3delCCCTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723584" "0" "50" "11" "65310999" "65310999" "subst" "0" "01943" "LTBP3_000072" "g.65310999C>T" "" "" "" "LTBP3(NM_001130144.2):c.2375G>A (p.G792E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723585" "0" "50" "11" "65321659" "65321659" "subst" "0" "01943" "LTBP3_000073" "g.65321659T>A" "" "" "" "LTBP3(NM_001130144.2):c.524A>T (p.E175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723586" "0" "70" "11" "65321801" "65321801" "subst" "4.24556E-6" "01943" "LTBP3_000074" "g.65321801G>A" "" "" "" "LTBP3(NM_001130144.2):c.382C>T (p.Q128*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000730010" "3" "90" "11" "65308604" "65308604" "subst" "0" "00000" "LTBP3_000071" "g.65308604G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001130144.2:c.2886C>G:p.(Tyr962*)" "" "Germline" "" "" "0" "" "" "g.65541133G>C" "" "likely pathogenic (recessive)" "" "0000792416" "3" "90" "11" "65308427" "65308427" "subst" "0" "04044" "LTBP3_000075" "g.65308427T>C" "" "{PMID:Flex 2021:34573388}, {DOI:Flex 2021:10.3390/genes12091406}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000805257" "0" "50" "11" "65293664" "65293664" "subst" "1.63003E-5" "01943" "LTBP3_000076" "g.65293664G>A" "" "" "" "SCYL1(NM_020680.3):c.445G>A (p.V149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805258" "0" "50" "11" "65306859" "65306859" "subst" "1.39997E-5" "01943" "LTBP3_000077" "g.65306859C>T" "" "" "" "LTBP3(NM_001130144.2):c.3700G>A (p.G1234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805259" "0" "30" "11" "65307219" "65307219" "subst" "0.000236848" "01943" "LTBP3_000078" "g.65307219T>C" "" "" "" "LTBP3(NM_001130144.2):c.3519A>G (p.Q1173=), LTBP3(NM_001130144.3):c.3519A>G (p.Q1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805260" "0" "50" "11" "65307551" "65307551" "subst" "0" "02327" "LTBP3_000079" "g.65307551G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805261" "0" "10" "11" "65314277" "65314277" "subst" "0.0077496" "02329" "LTBP3_000024" "g.65314277G>C" "" "" "" "LTBP3(NM_001130144.3):c.2222C>G (p.A741G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805262" "0" "30" "11" "65315164" "65315164" "subst" "8.89981E-6" "01943" "LTBP3_000080" "g.65315164C>G" "" "" "" "LTBP3(NM_001130144.2):c.1975G>C (p.V659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805263" "0" "50" "11" "65320427" "65320427" "subst" "2.84306E-5" "01943" "LTBP3_000081" "g.65320427C>T" "" "" "" "LTBP3(NM_001130144.2):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805264" "0" "10" "11" "65320440" "65320440" "subst" "0.00268081" "02329" "LTBP3_000082" "g.65320440G>A" "" "" "" "LTBP3(NM_001130144.3):c.1077C>T (p.C359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805265" "0" "30" "11" "65321726" "65321726" "subst" "0.00038295" "01943" "LTBP3_000083" "g.65321726C>T" "" "" "" "LTBP3(NM_001130144.2):c.457G>A (p.G153S), LTBP3(NM_001130144.3):c.457G>A (p.G153S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805266" "0" "30" "11" "65325354" "65325356" "del" "0" "02326" "LTBP3_000038" "g.65325354_65325356del" "" "" "" "LTBP3(NM_001130144.2):c.103_105del (p.(Leu35del)), LTBP3(NM_001130144.2):c.103_105delCTG (p.L35del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853081" "0" "30" "11" "65292699" "65292699" "subst" "0" "01943" "SCYL1_000002" "g.65292699G>A" "" "" "" "SCYL1(NM_020680.3):c.75G>A (p.L25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853082" "0" "30" "11" "65294543" "65294543" "subst" "0.000943135" "01943" "LTBP3_000010" "g.65294543G>A" "" "" "" "SCYL1(NM_020680.3):c.804G>A (p.M268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853083" "0" "30" "11" "65306911" "65306911" "subst" "0" "02329" "SCYL1_000003" "g.65306911C>T" "" "" "" "LTBP3(NM_001130144.3):c.3648G>A (p.E1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853084" "0" "10" "11" "65307074" "65307074" "subst" "0.00195041" "02329" "SCYL1_000004" "g.65307074G>A" "" "" "" "LTBP3(NM_001130144.3):c.3573C>T (p.S1191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853085" "0" "10" "11" "65307943" "65307943" "subst" "0.00349751" "02329" "SCYL1_000005" "g.65307943G>T" "" "" "" "LTBP3(NM_001130144.3):c.3106+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853086" "0" "30" "11" "65308406" "65308406" "subst" "2.47034E-5" "02326" "LTBP3_000069" "g.65308406G>A" "" "" "" "LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853087" "0" "30" "11" "65314959" "65314959" "subst" "0.000190987" "02326" "SCYL1_000006" "g.65314959G>T" "" "" "" "LTBP3(NM_001130144.2):c.2058C>A (p.N686K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853088" "0" "30" "11" "65320353" "65320353" "subst" "0" "02329" "LTBP3_000051" "g.65320353G>C" "" "" "" "LTBP3(NM_001130144.2):c.1164C>G (p.G388=), LTBP3(NM_001130144.3):c.1164C>G (p.G388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853089" "0" "30" "11" "65325348" "65325356" "dup" "0" "02329" "LTBP3_000055" "g.65325348_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.97_105dupCTGCTGCTG (p.L33_L35dup), LTBP3(NM_001130144.3):c.97_105dupCTGCTGCTG (p.L33_L35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862632" "0" "30" "11" "65308406" "65308406" "subst" "2.47034E-5" "02329" "LTBP3_000069" "g.65308406G>A" "" "" "" "LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862633" "0" "50" "11" "65319552" "65319552" "subst" "1.21826E-5" "01943" "SCYL1_000007" "g.65319552G>A" "" "" "" "LTBP3(NM_001130144.2):c.1422C>T (p.G474=), LTBP3(NM_001130144.3):c.1422C>T (p.G474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890059" "0" "30" "11" "65298145" "65298145" "subst" "0.000442927" "02326" "LTBP3_000041" "g.65298145A>G" "" "" "" "SCYL1(NM_020680.3):c.895A>G (p.K299E), SCYL1(NM_020680.4):c.895A>G (p.K299E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890060" "0" "50" "11" "65306604" "65306604" "subst" "0.000250468" "02325" "LTBP3_000056" "g.65306604C>T" "" "" "" "LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890061" "0" "30" "11" "65306629" "65306629" "subst" "0" "02329" "SCYL1_000008" "g.65306629G>A" "" "" "" "LTBP3(NM_001130144.3):c.3834C>T (p.G1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890062" "0" "30" "11" "65306785" "65306785" "subst" "0" "02326" "SCYL1_000009" "g.65306785G>C" "" "" "" "LTBP3(NM_001130144.2):c.3760+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890063" "0" "30" "11" "65306874" "65306874" "subst" "0.000244795" "02326" "SCYL1_000010" "g.65306874C>T" "" "" "" "LTBP3(NM_001130144.2):c.3685G>A (p.V1229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890064" "0" "30" "11" "65307356" "65307356" "subst" "0.000115201" "02329" "LTBP3_000021" "g.65307356C>T" "" "" "" "LTBP3(NM_001130144.2):c.3386-4G>A, LTBP3(NM_001130144.3):c.3386-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890065" "0" "10" "11" "65308051" "65308051" "subst" "0.00319594" "02329" "SCYL1_000011" "g.65308051A>G" "" "" "" "LTBP3(NM_001130144.3):c.3012T>C (p.I1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890066" "0" "10" "11" "65308777" "65308777" "subst" "0.000951924" "02326" "SCYL1_000012" "g.65308777C>T" "" "" "" "LTBP3(NM_001130144.2):c.2726-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890067" "0" "30" "11" "65309055" "65309055" "subst" "8.12757E-6" "02329" "SCYL1_000013" "g.65309055C>T" "" "" "" "LTBP3(NM_001130144.3):c.2725+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890068" "0" "30" "11" "65310706" "65310706" "subst" "0.000410643" "02326" "SCYL1_000014" "g.65310706T>A" "" "" "" "LTBP3(NM_001130144.2):c.2477-11A>T, LTBP3(NM_001130144.3):c.2477-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890069" "0" "30" "11" "65310706" "65310706" "subst" "0.000410643" "02329" "SCYL1_000014" "g.65310706T>A" "" "" "" "LTBP3(NM_001130144.2):c.2477-11A>T, LTBP3(NM_001130144.3):c.2477-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890070" "0" "30" "11" "65314398" "65314398" "subst" "4.11828E-6" "02326" "SCYL1_000015" "g.65314398G>C" "" "" "" "LTBP3(NM_001130144.2):c.2108-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890071" "0" "10" "11" "65315049" "65315049" "subst" "0.0016175" "02329" "SCYL1_000016" "g.65315049G>C" "" "" "" "LTBP3(NM_001130144.3):c.1979-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890072" "0" "30" "11" "65319750" "65319750" "subst" "0.000840841" "02326" "LTBP3_000063" "g.65319750C>T" "" "" "" "LTBP3(NM_001130144.2):c.1314G>A (p.A438=), LTBP3(NM_001130144.3):c.1314G>A (p.A438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890073" "0" "10" "11" "65319750" "65319750" "subst" "0.000840841" "02329" "LTBP3_000063" "g.65319750C>T" "" "" "" "LTBP3(NM_001130144.2):c.1314G>A (p.A438=), LTBP3(NM_001130144.3):c.1314G>A (p.A438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890074" "0" "30" "11" "65325185" "65325185" "subst" "0" "02326" "SCYL1_000017" "g.65325185G>A" "" "" "" "LTBP3(NM_001130144.2):c.246C>T (p.D82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913653" "0" "30" "11" "65306604" "65306604" "subst" "0.000250468" "02329" "LTBP3_000056" "g.65306604C>T" "" "" "" "LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913654" "0" "30" "11" "65308586" "65308586" "subst" "0" "02329" "SCYL1_000018" "g.65308586C>G" "" "" "" "LTBP3(NM_001130144.3):c.2893+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913655" "0" "30" "11" "65319624" "65319624" "subst" "0.00025176" "02329" "SCYL1_000019" "g.65319624C>T" "" "" "" "LTBP3(NM_001130144.3):c.1350G>A (p.A450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913656" "0" "30" "11" "65319712" "65319712" "subst" "0.00038993" "02329" "LTBP3_000005" "g.65319712G>A" "" "" "" "LTBP3(NM_001130144.2):c.1345+7C>T, LTBP3(NM_001130144.3):c.1345+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913657" "0" "30" "11" "65320987" "65320987" "subst" "0" "02329" "SCYL1_000020" "g.65320987G>A" "" "" "" "LTBP3(NM_001130144.3):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913658" "0" "30" "11" "65321390" "65321390" "subst" "0.000160428" "02329" "SCYL1_000021" "g.65321390G>A" "" "" "" "LTBP3(NM_001130144.3):c.662-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913659" "0" "30" "11" "65321726" "65321726" "subst" "0.00038295" "02329" "LTBP3_000083" "g.65321726C>T" "" "" "" "LTBP3(NM_001130144.2):c.457G>A (p.G153S), LTBP3(NM_001130144.3):c.457G>A (p.G153S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913660" "0" "30" "11" "65321729" "65321729" "subst" "0.000228032" "02329" "LTBP3_000053" "g.65321729C>T" "" "" "" "LTBP3(NM_001130144.2):c.454G>A (p.G152S), LTBP3(NM_001130144.3):c.454G>A (p.G152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925468" "0" "30" "11" "65307219" "65307219" "subst" "0.000236848" "02329" "LTBP3_000078" "g.65307219T>C" "" "" "" "LTBP3(NM_001130144.2):c.3519A>G (p.Q1173=), LTBP3(NM_001130144.3):c.3519A>G (p.Q1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925469" "0" "50" "11" "65307279" "65307279" "subst" "0" "02326" "SCYL1_000022" "g.65307279G>T" "" "" "" "LTBP3(NM_001130144.2):c.3459C>A (p.A1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925470" "0" "50" "11" "65307815" "65307815" "subst" "0" "02326" "LTBP3_000047" "g.65307815C>T" "" "" "" "LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925471" "0" "30" "11" "65307871" "65307879" "dup" "0" "02329" "SCYL1_000023" "g.65307871_65307879dup" "" "" "" "LTBP3(NM_001130144.3):c.3107-23_3107-15dupACCCACGCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925472" "0" "30" "11" "65314054" "65314054" "subst" "1.33247E-5" "02326" "SCYL1_000024" "g.65314054G>A" "" "" "" "LTBP3(NM_001130144.2):c.2231-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925473" "0" "50" "11" "65315233" "65315233" "subst" "0" "02329" "SCYL1_000025" "g.65315233C>T" "" "" "" "LTBP3(NM_001130144.3):c.1906G>A (p.G636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925474" "0" "30" "11" "65320463" "65320463" "subst" "0.00106443" "02329" "LTBP3_000031" "g.65320463G>A" "" "" "" "LTBP3(NM_001130144.2):c.1064-10C>T, LTBP3(NM_001130144.3):c.1064-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929943" "0" "10" "11" "65307108" "65307108" "subst" "0.00532329" "02329" "SCYL1_000026" "g.65307108A>G" "" "" "" "LTBP3(NM_001130144.3):c.3548-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929944" "0" "30" "11" "65307116" "65307116" "subst" "0" "02329" "SCYL1_000027" "g.65307116T>G" "" "" "" "LTBP3(NM_001130144.3):c.3548-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929945" "0" "30" "11" "65310440" "65310440" "subst" "0" "02329" "SCYL1_000028" "g.65310440G>A" "" "" "" "LTBP3(NM_001130144.3):c.2596+136C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929946" "0" "30" "11" "65314028" "65314028" "subst" "2.654E-5" "02329" "SCYL1_000029" "g.65314028G>A" "" "" "" "LTBP3(NM_001130144.3):c.2238C>T (p.N746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929947" "0" "30" "11" "65318412" "65318412" "subst" "0" "02329" "SCYL1_000030" "g.65318412C>A" "" "" "" "LTBP3(NM_001130144.3):c.1720+185G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929948" "0" "30" "11" "65319552" "65319552" "subst" "1.21826E-5" "02329" "SCYL1_000007" "g.65319552G>A" "" "" "" "LTBP3(NM_001130144.2):c.1422C>T (p.G474=), LTBP3(NM_001130144.3):c.1422C>T (p.G474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929949" "0" "50" "11" "65319571" "65319571" "subst" "0" "02327" "SCYL1_000031" "g.65319571T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949748" "0" "70" "11" "65306686" "65306687" "del" "0" "02327" "SCYL1_000032" "g.65306686_65306687del" "" "" "" "LTBP3(NM_001130144.3):c.3779_3780delAG (p.E1260Afs*89)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949749" "0" "50" "11" "65306686" "65306687" "del" "0" "02329" "SCYL1_000032" "g.65306686_65306687del" "" "" "" "LTBP3(NM_001130144.3):c.3779_3780delAG (p.E1260Afs*89)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949750" "0" "50" "11" "65306693" "65306693" "subst" "0" "02326" "SCYL1_000033" "g.65306693T>C" "" "" "" "LTBP3(NM_001130144.2):c.3770A>G (p.E1257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949751" "0" "50" "11" "65307815" "65307815" "subst" "0" "02329" "LTBP3_000047" "g.65307815C>T" "" "" "" "LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949752" "0" "30" "11" "65310662" "65310662" "subst" "0.00023559" "01804" "SCYL1_000034" "g.65310662A>G" "" "" "" "LTBP3(NM_001130144.2):c.2510T>C (p.(Ile837Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949753" "0" "50" "11" "65310901" "65310901" "subst" "2.03189E-5" "02329" "SCYL1_000035" "g.65310901C>T" "" "" "" "LTBP3(NM_001130144.3):c.2473G>A (p.E825K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949754" "0" "30" "11" "65313977" "65313977" "subst" "0" "02329" "SCYL1_000036" "g.65313977C>T" "" "" "" "LTBP3(NM_001130144.3):c.2289G>A (p.P763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949755" "0" "30" "11" "65318589" "65318589" "subst" "0" "02329" "SCYL1_000037" "g.65318589G>A" "" "" "" "LTBP3(NM_001130144.3):c.1720+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949756" "0" "30" "11" "65318961" "65318961" "subst" "0.000207403" "02329" "LTBP3_000028" "g.65318961G>T" "" "" "" "LTBP3(NM_001130144.2):c.1549-16C>A, LTBP3(NM_001130144.3):c.1549-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949757" "0" "30" "11" "65321285" "65321285" "subst" "9.2499E-5" "02326" "SCYL1_000038" "g.65321285C>T" "" "" "" "LTBP3(NM_001130144.2):c.751G>A (p.E251K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949758" "0" "50" "11" "65325190" "65325190" "subst" "7.02294E-5" "02329" "SCYL1_000039" "g.65325190G>A" "" "" "" "LTBP3(NM_001130144.3):c.241C>T (p.(Arg81Trp), p.R81W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966486" "0" "50" "11" "65306655" "65306655" "subst" "0" "02329" "SCYL1_000040" "g.65306655T>A" "" "" "" "LTBP3(NM_001130144.3):c.3808A>T (p.S1270C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966487" "0" "30" "11" "65306818" "65306818" "subst" "6.0518E-5" "02326" "LTBP3_000017" "g.65306818G>A" "" "" "" "LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966488" "0" "30" "11" "65306818" "65306818" "subst" "6.0518E-5" "02329" "LTBP3_000017" "g.65306818G>A" "" "" "" "LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966489" "0" "30" "11" "65306875" "65306875" "subst" "6.7908E-6" "02329" "SCYL1_000041" "g.65306875G>A" "" "" "" "LTBP3(NM_001130144.3):c.3684C>T (p.C1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966490" "0" "30" "11" "65307330" "65307330" "subst" "0.000146579" "02329" "LTBP3_000020" "g.65307330G>A" "" "" "" "LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966491" "0" "50" "11" "65308047" "65308047" "subst" "0" "02329" "SCYL1_000042" "g.65308047T>G" "" "" "" "LTBP3(NM_001130144.3):c.3016A>C (p.K1006Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966492" "0" "30" "11" "65314546" "65314546" "subst" "0" "02329" "SCYL1_000043" "g.65314546C>A" "" "" "" "LTBP3(NM_001130144.3):c.2108-155G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966493" "0" "50" "11" "65319767" "65319767" "subst" "4.06227E-6" "02326" "SCYL1_000044" "g.65319767C>T" "" "" "" "LTBP3(NM_001130144.2):c.1297G>A (p.G433S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966494" "0" "30" "11" "65321235" "65321235" "subst" "0" "02326" "SCYL1_000045" "g.65321235G>A" "" "" "" "LTBP3(NM_001130144.2):c.801C>T (p.H267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966495" "0" "30" "11" "65321697" "65321697" "subst" "0" "02329" "SCYL1_000046" "g.65321697C>T" "" "" "" "LTBP3(NM_001130144.3):c.486G>A (p.G162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966496" "0" "30" "11" "65325227" "65325227" "subst" "0" "02329" "SCYL1_000047" "g.65325227C>T" "" "" "" "LTBP3(NM_001130144.3):c.204G>A (p.P68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979734" "0" "50" "11" "65299084" "65299086" "del" "0" "01804" "SCYL1_000048" "g.65299084_65299086del" "" "" "" "SCYL1(NM_020680.4):c.1046_1048del (p.(Lys349del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979735" "0" "30" "11" "65299148" "65299148" "subst" "0.000997183" "01804" "SCYL1_000049" "g.65299148G>A" "" "" "" "SCYL1(NM_020680.4):c.1110G>A (p.(Leu370=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979736" "0" "50" "11" "65305325" "65305325" "subst" "0" "01804" "SCYL1_000050" "g.65305325G>A" "" "" "" "SCYL1(NM_020680.4):c.2005G>A (p.(Gly669Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979737" "0" "30" "11" "65306551" "65306559" "dup" "0" "02329" "SCYL1_000051" "g.65306551_65306559dup" "" "" "" "LTBP3(NM_001130144.3):c.*6_*7insTGACGCCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979738" "0" "50" "11" "65306604" "65306604" "subst" "0.000250468" "01804" "LTBP3_000056" "g.65306604C>T" "" "" "" "LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979739" "0" "50" "11" "65306655" "65306655" "subst" "0" "02327" "SCYL1_000040" "g.65306655T>A" "" "" "" "LTBP3(NM_001130144.3):c.3808A>T (p.S1270C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979740" "0" "50" "11" "65308400" "65308400" "subst" "7.81398E-5" "01804" "SCYL1_000052" "g.65308400G>C" "" "" "" "LTBP3(NM_001130144.3):c.2919C>G (p.(Asp973Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979741" "0" "30" "11" "65308542" "65308542" "subst" "0" "02329" "SCYL1_000053" "g.65308542T>C" "" "" "" "LTBP3(NM_001130144.3):c.2893+55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979742" "0" "50" "11" "65309175" "65309175" "subst" "0.000231649" "01804" "SCYL1_000054" "g.65309175G>A" "" "" "" "LTBP3(NM_001130144.3):c.2621C>T (p.(Pro874Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979743" "0" "30" "11" "65310518" "65310518" "subst" "0" "02329" "SCYL1_000055" "g.65310518C>G" "" "" "" "LTBP3(NM_001130144.3):c.2596+58G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979744" "0" "50" "11" "65310994" "65310994" "subst" "0.000142134" "01804" "SCYL1_000056" "g.65310994C>T" "" "" "" "LTBP3(NM_001130144.3):c.2380G>A (p.(Val794Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979745" "0" "30" "11" "65315672" "65315672" "subst" "0" "02329" "SCYL1_000057" "g.65315672C>G" "" "" "" "LTBP3(NM_001130144.3):c.1721-156G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979746" "0" "30" "11" "65318529" "65318529" "subst" "0" "02329" "SCYL1_000058" "g.65318529G>C" "" "" "" "LTBP3(NM_001130144.3):c.1720+68C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979747" "0" "30" "11" "65319134" "65319134" "subst" "0" "02329" "SCYL1_000059" "g.65319134G>A" "" "" "" "LTBP3(NM_001130144.3):c.1532-99C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979748" "0" "50" "11" "65321328" "65321328" "subst" "0.000819006" "01804" "LTBP3_000060" "g.65321328G>T" "" "" "" "LTBP3(NM_001130144.2):c.708C>A (p.P236=), LTBP3(NM_001130144.3):c.708C>A (p.(Pro236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979749" "0" "30" "11" "65321383" "65321383" "subst" "0" "01804" "LTBP3_000033" "g.65321383G>A" "" "" "" "LTBP3(NM_001130144.2):c.662-9C>T, LTBP3(NM_001130144.3):c.662-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979750" "0" "50" "11" "65325273" "65325273" "subst" "0" "01804" "SCYL1_000060" "g.65325273C>T" "" "" "" "LTBP3(NM_001130144.3):c.158G>A (p.(Gly53Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999257" "0" "50" "11" "65306639" "65306639" "subst" "0" "01804" "SCYL1_000061" "g.65306639T>C" "" "" "" "LTBP3(NM_001130144.2):c.3824A>G (p.(Asn1275Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999258" "0" "50" "11" "65307562" "65307562" "subst" "0" "02329" "LTBP3_000022" "g.65307562A>C" "" "" "" "LTBP3(NM_001130144.2):c.3307T>G (p.S1103A), LTBP3(NM_001130144.3):c.3307T>G (p.S1103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999259" "0" "50" "11" "65307588" "65307588" "subst" "0.000173333" "02326" "SCYL1_000062" "g.65307588G>A" "" "" "" "LTBP3(NM_001130144.2):c.3281C>T (p.P1094L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999260" "0" "50" "11" "65307842" "65307842" "subst" "0" "01804" "SCYL1_000063" "g.65307842A>C" "" "" "" "LTBP3(NM_001130144.2):c.3118T>G (p.(Cys1040Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999261" "0" "30" "11" "65308258" "65308258" "subst" "0" "02329" "SCYL1_000064" "g.65308258T>C" "" "" "" "LTBP3(NM_001130144.3):c.2977+84A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999262" "0" "50" "11" "65308383" "65308383" "subst" "0" "02326" "SCYL1_000065" "g.65308383T>A" "" "" "" "LTBP3(NM_001130144.2):c.2936A>T (p.Q979L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999263" "0" "30" "11" "65308501" "65308501" "subst" "0" "02329" "SCYL1_000066" "g.65308501C>T" "" "" "" "LTBP3(NM_001130144.3):c.2894-76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999264" "0" "30" "11" "65309159" "65309159" "subst" "0.000109679" "02326" "SCYL1_000067" "g.65309159G>T" "" "" "" "LTBP3(NM_001130144.2):c.2637C>A (p.P879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999265" "0" "50" "11" "65310966" "65310966" "subst" "4.06081E-6" "01804" "SCYL1_000068" "g.65310966G>A" "" "" "" "LTBP3(NM_001130144.2):c.2408C>T (p.(Thr803Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999266" "0" "30" "11" "65313894" "65313894" "subst" "0" "02329" "SCYL1_000069" "g.65313894C>G" "" "" "" "LTBP3(NM_001130144.3):c.2353+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999267" "0" "50" "11" "65313927" "65313927" "subst" "0" "02329" "SCYL1_000070" "g.65313927C>A" "" "" "" "LTBP3(NM_001130144.3):c.2339G>T (p.G780V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999268" "0" "30" "11" "65318938" "65318938" "subst" "0.000720074" "02329" "SCYL1_000071" "g.65318938C>T" "" "" "" "LTBP3(NM_001130144.3):c.1556G>A (p.S519N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999269" "0" "30" "11" "65320352" "65320352" "subst" "4.06118E-6" "01804" "SCYL1_000072" "g.65320352G>A" "" "" "" "LTBP3(NM_001130144.2):c.1165C>T (p.(Pro389Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999270" "0" "70" "11" "65320635" "65320635" "subst" "0" "02326" "SCYL1_000073" "g.65320635C>T" "" "" "" "LTBP3(NM_001130144.2):c.1063G>A (p.D355N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999271" "0" "50" "11" "65321267" "65321267" "subst" "0" "02326" "SCYL1_000074" "g.65321267G>C" "" "" "" "LTBP3(NM_001130144.2):c.769C>G (p.Q257E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999272" "0" "50" "11" "65321338" "65321338" "subst" "0" "02329" "SCYL1_000075" "g.65321338T>C" "" "" "" "LTBP3(NM_001130144.3):c.698A>G (p.H233R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999273" "0" "50" "11" "65321723" "65321723" "subst" "0" "02329" "SCYL1_000076" "g.65321723A>C" "" "" "" "LTBP3(NM_001130144.3):c.460T>G (p.S154A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999274" "0" "30" "11" "65325110" "65325110" "subst" "2.06875E-5" "02329" "SCYL1_000077" "g.65325110G>A" "" "" "" "LTBP3(NM_001130144.3):c.321C>T (p.G107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999275" "0" "30" "11" "65325351" "65325356" "dup" "0" "02325" "LTBP3_000037" "g.65325351_65325356dup" "" "" "" "LTBP3(NM_001130144.2):c.100_105dupCTGCTG (p.L34_L35dup), LTBP3(NM_001130144.2):c.94_99dupCTGCTG (p.L34_L35dup), LTBP3(NM_001130144.3):c.100_105dupC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014859" "0" "50" "11" "65321260" "65321260" "subst" "0" "02329" "SCYL1_000078" "g.65321260A>G" "" "" "" "LTBP3(NM_001130144.3):c.776T>C (p.L259P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026044" "0" "30" "11" "65306715" "65306715" "subst" "0" "02329" "SCYL1_000079" "g.65306715G>A" "" "" "" "LTBP3(NM_001130144.3):c.3761-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026045" "0" "30" "11" "65306717" "65306717" "subst" "0.000550594" "02329" "LTBP3_000016" "g.65306717G>A" "" "" "" "LTBP3(NM_001130144.2):c.3761-15C>T, LTBP3(NM_001130144.3):c.3761-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026046" "0" "30" "11" "65313899" "65313899" "subst" "0.000547317" "02329" "SCYL1_000080" "g.65313899G>A" "" "" "" "LTBP3(NM_001130144.3):c.2353+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026047" "0" "30" "11" "65318705" "65318705" "subst" "4.1636E-5" "02329" "SCYL1_000081" "g.65318705G>T" "" "" "" "LTBP3(NM_001130144.3):c.1622-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026048" "0" "30" "11" "65318854" "65318854" "subst" "0" "02329" "SCYL1_000082" "g.65318854C>T" "" "" "" "LTBP3(NM_001130144.3):c.1621+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026049" "0" "30" "11" "65318901" "65318901" "subst" "0" "02329" "SCYL1_000083" "g.65318901G>A" "" "" "" "LTBP3(NM_001130144.3):c.1593C>T (p.A531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026050" "0" "50" "11" "65321731" "65321731" "subst" "4.37048E-6" "02329" "SCYL1_000084" "g.65321731G>A" "" "" "" "LTBP3(NM_001130144.3):c.452C>T (p.T151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038595" "0" "30" "11" "65304049" "65304049" "subst" "0.00013429" "01804" "LTBP3_000042" "g.65304049C>T" "" "" "" "SCYL1(NM_020680.3):c.1652-8C>T, SCYL1(NM_020680.4):c.1652-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038596" "0" "70" "11" "65306551" "65306559" "del" "0" "01804" "SCYL1_000085" "g.65306551_65306559del" "" "" "" "LTBP3(NM_001130144.3):c.3910_*6del (p.(Ter1304ArgextTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038597" "0" "50" "11" "65319441" "65319441" "del" "1.21924E-5" "01804" "SCYL1_000086" "g.65319441del" "" "" "" "LTBP3(NM_001130144.3):c.1531+2del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038598" "0" "50" "11" "65320359" "65320359" "subst" "0.0001462" "01804" "LTBP3_000059" "g.65320359A>T" "" "" "" "LTBP3(NM_001130144.2):c.1158T>A (p.S386R), LTBP3(NM_001130144.3):c.1158T>A (p.(Ser386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038599" "0" "30" "11" "65320427" "65320427" "subst" "2.84306E-5" "02326" "LTBP3_000081" "g.65320427C>T" "" "" "" "LTBP3(NM_001130144.2):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038600" "0" "50" "11" "65325190" "65325190" "subst" "7.02294E-5" "01804" "SCYL1_000039" "g.65325190G>A" "" "" "" "LTBP3(NM_001130144.3):c.241C>T (p.(Arg81Trp), p.R81W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046323" "0" "30" "11" "65307750" "65307750" "subst" "4.06818E-5" "02326" "SCYL1_000087" "g.65307750G>A" "" "" "" "LTBP3(NM_001130144.2):c.3210C>T (p.P1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046324" "0" "30" "11" "65319533" "65319533" "subst" "0" "02327" "SCYL1_000088" "g.65319533A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LTBP3 ## Count = 205 "{{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}}" "0000132247" "00024184" "50" "1551" "0" "1551" "0" "c.1551G>A" "r.(1551g>a)" "p.(Pro517=)" "10" "0000286048" "00024184" "30" "3245" "-19" "3245" "-19" "c.3245-19A>C" "r.(=)" "p.(=)" "" "0000291246" "00024184" "30" "1345" "7" "1345" "7" "c.1345+7C>T" "r.(=)" "p.(=)" "" "0000291247" "00024184" "30" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Pro517Leu)" "" "0000291248" "00024184" "30" "3081" "0" "3081" "0" "c.3081C>T" "r.(?)" "p.(Tyr1027=)" "" "0000344259" "00024184" "50" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Cys131Gly)" "" "0000544967" "00024184" "50" "16162" "0" "16162" "0" "c.*12250T>C" "r.(=)" "p.(=)" "" "0000544968" "00024184" "30" "15921" "0" "15921" "0" "c.*12009A>G" "r.(=)" "p.(=)" "" "0000544971" "00024184" "30" "12250" "0" "12250" "0" "c.*8338G>A" "r.(=)" "p.(=)" "" "0000544974" "00024184" "30" "4899" "0" "4899" "0" "c.*987G>A" "r.(=)" "p.(=)" "" "0000544975" "00024184" "30" "3761" "-15" "3761" "-15" "c.3761-15C>T" "r.(=)" "p.(=)" "" "0000544976" "00024184" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(Ala1247=)" "" "0000544977" "00024184" "50" "3733" "0" "3733" "0" "c.3733C>T" "r.(?)" "p.(Leu1245Phe)" "" "0000544978" "00024184" "30" "3564" "0" "3564" "0" "c.3564A>G" "r.(?)" "p.(Thr1188=)" "" "0000544979" "00024184" "30" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(Asp1136=)" "" "0000544980" "00024184" "30" "3386" "-4" "3386" "-4" "c.3386-4G>A" "r.spl?" "p.?" "" "0000544981" "00024184" "50" "3307" "0" "3307" "0" "c.3307T>G" "r.(?)" "p.(Ser1103Ala)" "" "0000544984" "00024184" "50" "2170" "0" "2170" "0" "c.2170A>T" "r.(?)" "p.(Ser724Cys)" "" "0000544985" "00024184" "10" "2107" "8" "2107" "8" "c.2107+8G>A" "r.(=)" "p.(=)" "" "0000544986" "00024184" "50" "2014" "0" "2022" "0" "c.2014_2022del" "r.(?)" "p.(Asp672_Gly674del)" "" "0000544987" "00024184" "30" "1549" "-16" "1549" "-16" "c.1549-16C>A" "r.(=)" "p.(=)" "" "0000544988" "00024184" "10" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ala438Val)" "" "0000544989" "00024184" "50" "1261" "0" "1261" "0" "c.1261A>C" "r.(?)" "p.(Thr421Pro)" "" "0000544990" "00024184" "30" "1064" "-10" "1064" "-10" "c.1064-10C>T" "r.(=)" "p.(=)" "" "0000544991" "00024184" "10" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Pro268=)" "" "0000544992" "00024184" "30" "662" "-9" "662" "-9" "c.662-9C>T" "r.(=)" "p.(=)" "" "0000544996" "00024184" "30" "100" "0" "105" "0" "c.100_105dup" "r.(?)" "p.(Leu34_Leu35dup)" "" "0000544997" "00024184" "30" "103" "0" "105" "0" "c.103_105del" "r.(?)" "p.(Leu35del)" "" "0000544998" "00024184" "10" "103" "0" "105" "0" "c.103_105dup" "r.(?)" "p.(Leu35dup)" "" "0000544999" "00024184" "30" "103" "0" "105" "0" "c.103_105dup" "r.(?)" "p.(Leu35dup)" "" "0000545000" "00024184" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ala25Val)" "" "0000613546" "00024184" "30" "12318" "0" "12318" "0" "c.*8406T>C" "r.(=)" "p.(=)" "" "0000613547" "00024184" "30" "6414" "0" "6414" "0" "c.*2502G>A" "r.(=)" "p.(=)" "" "0000613548" "00024184" "50" "3560" "0" "3560" "0" "c.3560C>G" "r.(?)" "p.(Pro1187Arg)" "" "0000613549" "00024184" "30" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(Asp1136=)" "" "0000613550" "00024184" "30" "3245" "-4" "3245" "-4" "c.3245-4G>A" "r.spl?" "p.?" "" "0000613551" "00024184" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Arg)" "" "0000613552" "00024184" "50" "1694" "0" "1694" "0" "c.1694T>A" "r.(?)" "p.(Val565Glu)" "" "0000613553" "00024184" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Asp485=)" "" "0000613554" "00024184" "30" "1164" "0" "1164" "0" "c.1164C>G" "r.(?)" "p.(Gly388=)" "" "0000613555" "00024184" "30" "97" "0" "105" "0" "c.97_105dup" "r.(?)" "p.(Leu33_Leu35dup)" "" "0000613556" "00024184" "30" "97" "0" "105" "0" "c.97_105dup" "r.(?)" "p.(Leu33_Leu35dup)" "" "0000622671" "00024184" "30" "5943" "0" "5943" "0" "c.*2031G>A" "r.(=)" "p.(=)" "" "0000622672" "00024184" "30" "3435" "0" "3435" "0" "c.3435C>T" "r.(?)" "p.(Asp1145=)" "" "0000622673" "00024184" "30" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(Cys578=)" "" "0000622674" "00024184" "30" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Arg334His)" "" "0000622675" "00024184" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Ser)" "" "0000622676" "00024184" "50" "91" "0" "105" "0" "c.91_105dup" "r.(?)" "p.(Leu31_Leu35dup)" "" "0000656847" "00024184" "50" "3859" "0" "3859" "0" "c.3859G>A" "r.(?)" "p.(Gly1287Ser)" "" "0000656848" "00024184" "50" "3043" "0" "3043" "0" "c.3043C>G" "r.(?)" "p.(Pro1015Ala)" "" "0000656849" "00024184" "30" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "" "0000656850" "00024184" "50" "1158" "0" "1158" "0" "c.1158T>A" "r.(?)" "p.(Ser386Arg)" "" "0000656851" "00024184" "50" "708" "0" "708" "0" "c.708C>A" "r.(?)" "p.(Pro236=)" "" "0000656852" "00024184" "30" "97" "0" "105" "0" "c.97_105dup" "r.(?)" "p.(Leu33_Leu35dup)" "" "0000679263" "00024184" "50" "4899" "0" "4899" "0" "c.*987G>A" "r.(=)" "p.(=)" "" "0000679264" "00024184" "30" "2196" "0" "2196" "0" "c.2196T>G" "r.(?)" "p.(Pro732=)" "" "0000679265" "00024184" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "" "0000679266" "00024184" "30" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "" "0000679267" "00024184" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Ala438=)" "" "0000679268" "00024184" "30" "1064" "-10" "1064" "-10" "c.1064-10C>T" "r.(=)" "p.(=)" "" "0000691126" "00024184" "30" "5013" "0" "5013" "0" "c.*1101C>T" "r.(=)" "p.(=)" "" "0000691127" "00024184" "30" "3036" "0" "3036" "0" "c.3036C>T" "r.(?)" "p.(Asn1012=)" "" "0000691128" "00024184" "30" "2502" "0" "2502" "0" "c.2502A>G" "r.(?)" "p.(Ala834=)" "" "0000723580" "00024184" "30" "4829" "0" "4829" "0" "c.*917G>C" "r.(=)" "p.(=)" "" "0000723581" "00024184" "50" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Arg1292His)" "" "0000723582" "00024184" "30" "2913" "0" "2913" "0" "c.2913C>T" "r.(?)" "p.(Cys971=)" "" "0000723583" "00024184" "50" "2894" "-8" "2894" "-3" "c.2894-8_2894-3del" "r.spl?" "p.?" "" "0000723584" "00024184" "50" "2375" "0" "2375" "0" "c.2375G>A" "r.(?)" "p.(Gly792Glu)" "" "0000723585" "00024184" "50" "524" "0" "524" "0" "c.524A>T" "r.(?)" "p.(Glu175Val)" "" "0000723586" "00024184" "70" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "" "0000730010" "00024184" "90" "2886" "0" "2886" "0" "c.2886C>G" "r.(?)" "p.(Tyr962*)" "" "0000792416" "00024184" "90" "2894" "-2" "2894" "-2" "c.2894-2A>G" "r.2893_2894ins[2893+1_2894-3;gg]" "p.Ala965Gly*38" "" "0000805257" "00024184" "50" "16799" "0" "16799" "0" "c.*12887C>T" "r.(=)" "p.(=)" "" "0000805258" "00024184" "50" "3700" "0" "3700" "0" "c.3700G>A" "r.(?)" "p.(Gly1234Ser)" "" "0000805259" "00024184" "30" "3519" "0" "3519" "0" "c.3519A>G" "r.(?)" "p.(Gln1173=)" "" "0000805260" "00024184" "50" "3318" "0" "3318" "0" "c.3318C>T" "r.(?)" "p.(Cys1106=)" "" "0000805261" "00024184" "10" "2222" "0" "2222" "0" "c.2222C>G" "r.(?)" "p.(Ala741Gly)" "" "0000805262" "00024184" "30" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "" "0000805263" "00024184" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "" "0000805264" "00024184" "10" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Cys359=)" "" "0000805265" "00024184" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Ser)" "" "0000805266" "00024184" "30" "103" "0" "105" "0" "c.103_105del" "r.(?)" "p.(Leu35del)" "" "0000853081" "00024184" "30" "17764" "0" "17764" "0" "c.*13852C>T" "r.(=)" "p.(=)" "" "0000853082" "00024184" "30" "15920" "0" "15920" "0" "c.*12008C>T" "r.(=)" "p.(=)" "" "0000853083" "00024184" "30" "3648" "0" "3648" "0" "c.3648G>A" "r.(?)" "p.(Glu1216=)" "" "0000853084" "00024184" "10" "3573" "0" "3573" "0" "c.3573C>T" "r.(?)" "p.(Ser1191=)" "" "0000853085" "00024184" "10" "3106" "14" "3106" "14" "c.3106+14C>A" "r.(=)" "p.(=)" "" "0000853086" "00024184" "30" "2913" "0" "2913" "0" "c.2913C>T" "r.(?)" "p.(Cys971=)" "" "0000853087" "00024184" "30" "2058" "0" "2058" "0" "c.2058C>A" "r.(?)" "p.(Asn686Lys)" "" "0000853088" "00024184" "30" "1164" "0" "1164" "0" "c.1164C>G" "r.(?)" "p.(Gly388=)" "" "0000853089" "00024184" "30" "97" "0" "105" "0" "c.97_105dup" "r.(?)" "p.(Leu33_Leu35dup)" "" "0000862632" "00024184" "30" "2913" "0" "2913" "0" "c.2913C>T" "r.(?)" "p.(Cys971=)" "" "0000862633" "00024184" "50" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Gly474=)" "" "0000890059" "00024184" "30" "12318" "0" "12318" "0" "c.*8406T>C" "r.(=)" "p.(=)" "" "0000890060" "00024184" "50" "3859" "0" "3859" "0" "c.3859G>A" "r.(?)" "p.(Gly1287Ser)" "" "0000890061" "00024184" "30" "3834" "0" "3834" "0" "c.3834C>T" "r.(?)" "p.(Gly1278=)" "" "0000890062" "00024184" "30" "3760" "14" "3760" "14" "c.3760+14C>G" "r.(=)" "p.(=)" "" "0000890063" "00024184" "30" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Val1229Met)" "" "0000890064" "00024184" "30" "3386" "-4" "3386" "-4" "c.3386-4G>A" "r.spl?" "p.?" "" "0000890065" "00024184" "10" "3012" "0" "3012" "0" "c.3012T>C" "r.(?)" "p.(Ile1004=)" "" "0000890066" "00024184" "10" "2726" "-13" "2726" "-13" "c.2726-13G>A" "r.(=)" "p.(=)" "" "0000890067" "00024184" "30" "2725" "16" "2725" "16" "c.2725+16G>A" "r.(=)" "p.(=)" "" "0000890068" "00024184" "30" "2477" "-11" "2477" "-11" "c.2477-11A>T" "r.(=)" "p.(=)" "" "0000890069" "00024184" "30" "2477" "-11" "2477" "-11" "c.2477-11A>T" "r.(=)" "p.(=)" "" "0000890070" "00024184" "30" "2108" "-7" "2108" "-7" "c.2108-7C>G" "r.(=)" "p.(=)" "" "0000890071" "00024184" "10" "1979" "-11" "1979" "-11" "c.1979-11C>G" "r.(=)" "p.(=)" "" "0000890072" "00024184" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Ala438=)" "" "0000890073" "00024184" "10" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Ala438=)" "" "0000890074" "00024184" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Asp82=)" "" "0000913653" "00024184" "30" "3859" "0" "3859" "0" "c.3859G>A" "r.(?)" "p.(Gly1287Ser)" "" "0000913654" "00024184" "30" "2893" "11" "2893" "11" "c.2893+11G>C" "r.(=)" "p.(=)" "" "0000913655" "00024184" "30" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Ala450=)" "" "0000913656" "00024184" "30" "1345" "7" "1345" "7" "c.1345+7C>T" "r.(=)" "p.(=)" "" "0000913657" "00024184" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000913658" "00024184" "30" "662" "-16" "662" "-16" "c.662-16C>T" "r.(=)" "p.(=)" "" "0000913659" "00024184" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Ser)" "" "0000913660" "00024184" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Ser)" "" "0000925468" "00024184" "30" "3519" "0" "3519" "0" "c.3519A>G" "r.(?)" "p.(Gln1173=)" "" "0000925469" "00024184" "50" "3459" "0" "3459" "0" "c.3459C>A" "r.(?)" "p.(Ala1153=)" "" "0000925470" "00024184" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Arg)" "" "0000925471" "00024184" "30" "3107" "-23" "3107" "-15" "c.3107-23_3107-15dup" "r.(=)" "p.(=)" "" "0000925472" "00024184" "30" "2231" "-19" "2231" "-19" "c.2231-19C>T" "r.(=)" "p.(=)" "" "0000925473" "00024184" "50" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Gly636Ser)" "" "0000925474" "00024184" "30" "1064" "-10" "1064" "-10" "c.1064-10C>T" "r.(=)" "p.(=)" "" "0000929943" "00024184" "10" "3548" "-9" "3548" "-9" "c.3548-9T>C" "r.(=)" "p.(=)" "" "0000929944" "00024184" "30" "3548" "-17" "3548" "-17" "c.3548-17A>C" "r.(=)" "p.(=)" "" "0000929945" "00024184" "30" "2596" "136" "2596" "136" "c.2596+136C>T" "r.(=)" "p.(=)" "" "0000929946" "00024184" "30" "2238" "0" "2238" "0" "c.2238C>T" "r.(?)" "p.(=)" "" "0000929947" "00024184" "30" "1720" "185" "1720" "185" "c.1720+185G>T" "r.(=)" "p.(=)" "" "0000929948" "00024184" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Gly474=)" "" "0000929949" "00024184" "50" "1403" "0" "1403" "0" "c.1403A>G" "r.(?)" "p.(Gln468Arg)" "" "0000949748" "00024184" "70" "3779" "0" "3780" "0" "c.3779_3780del" "r.(?)" "p.(Glu1260Alafs*89)" "" "0000949749" "00024184" "50" "3779" "0" "3780" "0" "c.3779_3780del" "r.(?)" "p.(Glu1260Alafs*89)" "" "0000949750" "00024184" "50" "3770" "0" "3770" "0" "c.3770A>G" "r.(?)" "p.(Glu1257Gly)" "" "0000949751" "00024184" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Arg)" "" "0000949752" "00024184" "30" "2510" "0" "2510" "0" "c.2510T>C" "r.(?)" "p.(Ile837Thr)" "" "0000949753" "00024184" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Glu825Lys)" "" "0000949754" "00024184" "30" "2289" "0" "2289" "0" "c.2289G>A" "r.(?)" "p.(=)" "" "0000949755" "00024184" "30" "1720" "8" "1720" "8" "c.1720+8C>T" "r.(=)" "p.(=)" "" "0000949756" "00024184" "30" "1549" "-16" "1549" "-16" "c.1549-16C>A" "r.(=)" "p.(=)" "" "0000949757" "00024184" "30" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" "" "0000949758" "00024184" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0000966486" "00024184" "50" "3808" "0" "3808" "0" "c.3808A>T" "r.(?)" "p.(Ser1270Cys)" "" "0000966487" "00024184" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(Ala1247=)" "" "0000966488" "00024184" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(Ala1247=)" "" "0000966489" "00024184" "30" "3684" "0" "3684" "0" "c.3684C>T" "r.(?)" "p.(=)" "" "0000966490" "00024184" "30" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(Asp1136=)" "" "0000966491" "00024184" "50" "3016" "0" "3016" "0" "c.3016A>C" "r.(?)" "p.(Lys1006Gln)" "" "0000966492" "00024184" "30" "2108" "-155" "2108" "-155" "c.2108-155G>T" "r.(=)" "p.(=)" "" "0000966493" "00024184" "50" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Gly433Ser)" "" "0000966494" "00024184" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(=)" "" "0000966495" "00024184" "30" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(=)" "" "0000966496" "00024184" "30" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(=)" "" "0000979734" "00024184" "50" "11380" "0" "11382" "0" "c.*7468_*7470del" "r.(=)" "p.(=)" "" "0000979735" "00024184" "30" "11315" "0" "11315" "0" "c.*7403C>T" "r.(=)" "p.(=)" "" "0000979736" "00024184" "50" "5138" "0" "5138" "0" "c.*1226C>T" "r.(=)" "p.(=)" "" "0000979737" "00024184" "30" "3910" "0" "3918" "0" "c.3910_*6dup" "r.(?)" "p.(=)" "" "0000979738" "00024184" "50" "3859" "0" "3859" "0" "c.3859G>A" "r.(?)" "p.(Gly1287Ser)" "" "0000979739" "00024184" "50" "3808" "0" "3808" "0" "c.3808A>T" "r.(?)" "p.(Ser1270Cys)" "" "0000979740" "00024184" "50" "2919" "0" "2919" "0" "c.2919C>G" "r.(?)" "p.(Asp973Glu)" "" "0000979741" "00024184" "30" "2893" "55" "2893" "55" "c.2893+55A>G" "r.(=)" "p.(=)" "" "0000979742" "00024184" "50" "2621" "0" "2621" "0" "c.2621C>T" "r.(?)" "p.(Pro874Leu)" "" "0000979743" "00024184" "30" "2596" "58" "2596" "58" "c.2596+58G>C" "r.(=)" "p.(=)" "" "0000979744" "00024184" "50" "2380" "0" "2380" "0" "c.2380G>A" "r.(?)" "p.(Val794Met)" "" "0000979745" "00024184" "30" "1721" "-156" "1721" "-156" "c.1721-156G>C" "r.(=)" "p.(=)" "" "0000979746" "00024184" "30" "1720" "68" "1720" "68" "c.1720+68C>G" "r.(=)" "p.(=)" "" "0000979747" "00024184" "30" "1532" "-99" "1532" "-99" "c.1532-99C>T" "r.(=)" "p.(=)" "" "0000979748" "00024184" "50" "708" "0" "708" "0" "c.708C>A" "r.(?)" "p.(Pro236=)" "" "0000979749" "00024184" "30" "662" "-9" "662" "-9" "c.662-9C>T" "r.(=)" "p.(=)" "" "0000979750" "00024184" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "0000999257" "00024184" "50" "3824" "0" "3824" "0" "c.3824A>G" "r.(?)" "p.(Asn1275Ser)" "" "0000999258" "00024184" "50" "3307" "0" "3307" "0" "c.3307T>G" "r.(?)" "p.(Ser1103Ala)" "" "0000999259" "00024184" "50" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Pro1094Leu)" "" "0000999260" "00024184" "50" "3118" "0" "3118" "0" "c.3118T>G" "r.(?)" "p.(Cys1040Gly)" "" "0000999261" "00024184" "30" "2977" "84" "2977" "84" "c.2977+84A>G" "r.(=)" "p.(=)" "" "0000999262" "00024184" "50" "2936" "0" "2936" "0" "c.2936A>T" "r.(?)" "p.(Gln979Leu)" "" "0000999263" "00024184" "30" "2894" "-76" "2894" "-76" "c.2894-76G>A" "r.(=)" "p.(=)" "" "0000999264" "00024184" "30" "2637" "0" "2637" "0" "c.2637C>A" "r.(?)" "p.(=)" "" "0000999265" "00024184" "50" "2408" "0" "2408" "0" "c.2408C>T" "r.(?)" "p.(Thr803Met)" "" "0000999266" "00024184" "30" "2353" "19" "2353" "19" "c.2353+19G>C" "r.(=)" "p.(=)" "" "0000999267" "00024184" "50" "2339" "0" "2339" "0" "c.2339G>T" "r.(?)" "p.(Gly780Val)" "" "0000999268" "00024184" "30" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Ser519Asn)" "" "0000999269" "00024184" "30" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Pro389Ser)" "" "0000999270" "00024184" "70" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Asp355Asn)" "" "0000999271" "00024184" "50" "769" "0" "769" "0" "c.769C>G" "r.(?)" "p.(Gln257Glu)" "" "0000999272" "00024184" "50" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(His233Arg)" "" "0000999273" "00024184" "50" "460" "0" "460" "0" "c.460T>G" "r.(?)" "p.(Ser154Ala)" "" "0000999274" "00024184" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(=)" "" "0000999275" "00024184" "30" "100" "0" "105" "0" "c.100_105dup" "r.(?)" "p.(Leu34_Leu35dup)" "" "0001014859" "00024184" "50" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Leu259Pro)" "" "0001026044" "00024184" "30" "3761" "-13" "3761" "-13" "c.3761-13C>T" "r.(=)" "p.(=)" "" "0001026045" "00024184" "30" "3761" "-15" "3761" "-15" "c.3761-15C>T" "r.(=)" "p.(=)" "" "0001026046" "00024184" "30" "2353" "14" "2353" "14" "c.2353+14C>T" "r.(=)" "p.(=)" "" "0001026047" "00024184" "30" "1622" "-10" "1622" "-10" "c.1622-10C>A" "r.(=)" "p.(=)" "" "0001026048" "00024184" "30" "1621" "19" "1621" "19" "c.1621+19G>A" "r.(=)" "p.(=)" "" "0001026049" "00024184" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(=)" "" "0001026050" "00024184" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0001038595" "00024184" "30" "6414" "0" "6414" "0" "c.*2502G>A" "r.(=)" "p.(=)" "" "0001038596" "00024184" "70" "3910" "0" "3918" "0" "c.3910_*6del" "r.(?)" "p.(*1304Argext*9)" "" "0001038597" "00024184" "50" "1531" "2" "1531" "2" "c.1531+2del" "r.spl?" "p.?" "" "0001038598" "00024184" "50" "1158" "0" "1158" "0" "c.1158T>A" "r.(?)" "p.(Ser386Arg)" "" "0001038599" "00024184" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "" "0001038600" "00024184" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0001046323" "00024184" "30" "3210" "0" "3210" "0" "c.3210C>T" "r.(?)" "p.(=)" "" "0001046324" "00024184" "30" "1441" "0" "1441" "0" "c.1441T>C" "r.(?)" "p.(Phe481Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000081583" "0000132247" "0000332728" "0000730010" "0000379273" "0000792416"