### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCYL1) # 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}}" "SCYL1" "SCY1-like 1 (S. cerevisiae)" "11" "q11-q12" "unknown" "NG_047172.1" "UD_136091586053" "" "https://www.LOVD.nl/SCYL1" "" "1" "14372" "57410" "607982" "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/SCYL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-14 13:09:14" "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}}" "00018552" "SCYL1" "transcript variant A" "001" "NM_020680.3" "" "NP_065731.3" "" "" "" "-77" "2572" "2427" "65292548" "65306182" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05034" "IIAE2" "encephalitis, Herpes simplex, susceptibility to, type 2" "AD;AR" "613002" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05035" "SCA21" "ataxia, spinocerebellar, type 21 (SCA-21)" "AD" "607454" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05429" "SCAR21" "ataxia, spinocerebellar, autosomal recrecessive, type 21 (SCAR-21)" "AR" "616719" "" "autosomal recessive" "" "00006" "2018-05-20 10:46:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCYL1" "05429" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00164324" "" "" "" "2" "" "02475" "" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "P09182" "00164364" "" "" "" "1" "" "02475" "" "" "M" "no" "Israel" "" "0" "" "" "" "IY-8543" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00164324" "05035" "00164364" "05034" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05034, 05035, 05429 ## Count = 2 "{{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}}" "0000129434" "05035" "00164324" "02475" "Familial, autosomal recessive" "02y06m" "" "" "00y10m" "" "" "" "" "" "SCAR-21" "spinocerebellar ataxia" "0000129496" "05034" "00164364" "02475" "Familial, autosomal recessive" "" "Acute hepatic failure \r\nHand tremor\r\nFailure to thrive in infancy" "" "00y22m" "" "" "" "" "" "SCAR-21" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165191" "00164324" "1" "02475" "02475" "2018-05-12 10:17:53" "" "" "SEQ-NG" "DNA" "" "" "0000165324" "00164364" "1" "02475" "02475" "2018-05-19 18:29:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000165324" "SCYL1" ## 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 = 204 "{{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}}" "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" "" "0000368834" "0" "90" "11" "65293678" "65293678" "subst" "3.26038E-5" "02475" "SCYL1_000001" "g.65293678C>T" "" "" "" "" "curator NOTE: unclear how variants can be pathogenic" "Germline" "yes" "" "0" "" "" "g.65526207C>T" "" "pathogenic" "" "0000368985" "0" "90" "11" "65293678" "65293678" "subst" "3.26038E-5" "02475" "SCYL1_000001" "g.65293678C>T" "" "" "" "459C>T (Gly153Gly)" "" "Germline" "yes" "" "0" "" "" "g.65526207C>T" "" "pathogenic" "" "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" "" "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 SCYL1 ## Count = 204 "{{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}}" "0000286048" "00018552" "30" "4033" "0" "4033" "0" "c.*1606T>G" "r.(=)" "p.(=)" "" "0000291246" "00018552" "30" "16102" "0" "16102" "0" "c.*13675G>A" "r.(=)" "p.(=)" "" "0000291247" "00018552" "30" "15334" "0" "15334" "0" "c.*12907G>A" "r.(=)" "p.(=)" "" "0000291248" "00018552" "30" "4372" "0" "4372" "0" "c.*1945G>A" "r.(=)" "p.(=)" "" "0000344259" "00018552" "50" "18182" "0" "18182" "0" "c.*15755A>C" "r.(=)" "p.(=)" "" "0000368834" "00018552" "90" "459" "0" "459" "0" "c.459C>T" "r.(459c>u)" "p.(Gly153=)" "4" "0000368985" "00018552" "90" "459" "0" "459" "0" "c.459C>T" "r.spl?" "p.(Gly153=)" "4" "0000544967" "00018552" "50" "650" "0" "650" "0" "c.650A>G" "r.(?)" "p.(Asn217Ser)" "" "0000544968" "00018552" "30" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Met268Thr)" "" "0000544971" "00018552" "30" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Phe321=)" "" "0000544974" "00018552" "30" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720Trp)" "" "0000544975" "00018552" "30" "3107" "0" "3107" "0" "c.*680G>A" "r.(=)" "p.(=)" "" "0000544976" "00018552" "30" "3208" "0" "3208" "0" "c.*781G>A" "r.(=)" "p.(=)" "" "0000544977" "00018552" "50" "3216" "0" "3216" "0" "c.*789G>A" "r.(=)" "p.(=)" "" "0000544978" "00018552" "30" "3473" "0" "3473" "0" "c.*1046T>C" "r.(=)" "p.(=)" "" "0000544979" "00018552" "30" "3720" "0" "3720" "0" "c.*1293G>A" "r.(=)" "p.(=)" "" "0000544980" "00018552" "30" "3746" "0" "3746" "0" "c.*1319C>T" "r.(=)" "p.(=)" "" "0000544981" "00018552" "50" "3952" "0" "3952" "0" "c.*1525A>C" "r.(=)" "p.(=)" "" "0000544984" "00018552" "50" "10719" "0" "10719" "0" "c.*8292T>A" "r.(=)" "p.(=)" "" "0000544985" "00018552" "10" "11292" "0" "11292" "0" "c.*8865C>T" "r.(=)" "p.(=)" "" "0000544986" "00018552" "50" "11390" "0" "11398" "0" "c.*8963_*8971del" "r.(=)" "p.(=)" "" "0000544987" "00018552" "30" "15351" "0" "15351" "0" "c.*12924G>T" "r.(=)" "p.(=)" "" "0000544988" "00018552" "10" "16141" "0" "16141" "0" "c.*13714G>A" "r.(=)" "p.(=)" "" "0000544989" "00018552" "50" "16193" "0" "16193" "0" "c.*13766T>G" "r.(=)" "p.(=)" "" "0000544990" "00018552" "30" "16853" "0" "16853" "0" "c.*14426G>A" "r.(=)" "p.(=)" "" "0000544991" "00018552" "10" "17622" "0" "17622" "0" "c.*15195G>A" "r.(=)" "p.(=)" "" "0000544992" "00018552" "30" "17773" "0" "17773" "0" "c.*15346G>A" "r.(=)" "p.(=)" "" "0000544996" "00018552" "30" "21741" "0" "21746" "0" "c.*19314_*19319dup" "r.(=)" "p.(=)" "" "0000544997" "00018552" "30" "21744" "0" "21746" "0" "c.*19317_*19319del" "r.(=)" "p.(=)" "" "0000544998" "00018552" "10" "21744" "0" "21746" "0" "c.*19317_*19319dup" "r.(=)" "p.(=)" "" "0000544999" "00018552" "30" "21744" "0" "21746" "0" "c.*19317_*19319dup" "r.(=)" "p.(=)" "" "0000545000" "00018552" "30" "21747" "0" "21747" "0" "c.*19320G>A" "r.(=)" "p.(=)" "" "0000613546" "00018552" "30" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Lys299Glu)" "" "0000613547" "00018552" "30" "1652" "-8" "1652" "-8" "c.1652-8C>T" "r.(=)" "p.(=)" "" "0000613548" "00018552" "50" "3477" "0" "3477" "0" "c.*1050G>C" "r.(=)" "p.(=)" "" "0000613549" "00018552" "30" "3720" "0" "3720" "0" "c.*1293G>A" "r.(=)" "p.(=)" "" "0000613550" "00018552" "30" "4018" "0" "4018" "0" "c.*1591C>T" "r.(=)" "p.(=)" "" "0000613551" "00018552" "50" "4205" "0" "4205" "0" "c.*1778C>T" "r.(=)" "p.(=)" "" "0000613552" "00018552" "50" "15013" "0" "15013" "0" "c.*12586A>T" "r.(=)" "p.(=)" "" "0000613553" "00018552" "30" "15909" "0" "15909" "0" "c.*13482G>A" "r.(=)" "p.(=)" "" "0000613554" "00018552" "30" "16743" "0" "16743" "0" "c.*14316G>C" "r.(=)" "p.(=)" "" "0000613555" "00018552" "30" "21738" "0" "21746" "0" "c.*19311_*19319dup" "r.(=)" "p.(=)" "" "0000613556" "00018552" "30" "21738" "0" "21746" "0" "c.*19311_*19319dup" "r.(=)" "p.(=)" "" "0000622671" "00018552" "30" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Thr627Met)" "" "0000622672" "00018552" "30" "3693" "0" "3693" "0" "c.*1266G>A" "r.(=)" "p.(=)" "" "0000622673" "00018552" "30" "11893" "0" "11893" "0" "c.*9466G>A" "r.(=)" "p.(=)" "" "0000622674" "00018552" "30" "17087" "0" "17087" "0" "c.*14660C>T" "r.(=)" "p.(=)" "" "0000622675" "00018552" "30" "18119" "0" "18119" "0" "c.*15692C>T" "r.(=)" "p.(=)" "" "0000622676" "00018552" "50" "21732" "0" "21746" "0" "c.*19305_*19319dup" "r.(=)" "p.(=)" "" "0000656847" "00018552" "50" "2994" "0" "2994" "0" "c.*567C>T" "r.(=)" "p.(=)" "" "0000656848" "00018552" "50" "4410" "0" "4410" "0" "c.*1983G>C" "r.(=)" "p.(=)" "" "0000656849" "00018552" "30" "15062" "0" "15062" "0" "c.*12635G>C" "r.(=)" "p.(=)" "" "0000656850" "00018552" "50" "16749" "0" "16749" "0" "c.*14322A>T" "r.(=)" "p.(=)" "" "0000656851" "00018552" "50" "17718" "0" "17718" "0" "c.*15291G>T" "r.(=)" "p.(=)" "" "0000656852" "00018552" "30" "21738" "0" "21746" "0" "c.*19311_*19319dup" "r.(=)" "p.(=)" "" "0000679263" "00018552" "50" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720Trp)" "" "0000679264" "00018552" "30" "10693" "0" "10693" "0" "c.*8266A>C" "r.(=)" "p.(=)" "" "0000679265" "00018552" "50" "11817" "0" "11817" "0" "c.*9390C>T" "r.(=)" "p.(=)" "" "0000679266" "00018552" "30" "15062" "0" "15062" "0" "c.*12635G>C" "r.(=)" "p.(=)" "" "0000679267" "00018552" "30" "16140" "0" "16140" "0" "c.*13713C>T" "r.(=)" "p.(=)" "" "0000679268" "00018552" "30" "16853" "0" "16853" "0" "c.*14426G>A" "r.(=)" "p.(=)" "" "0000691126" "00018552" "30" "2044" "0" "2044" "0" "c.2044G>A" "r.(?)" "p.(Asp682Asn)" "" "0000691127" "00018552" "30" "4417" "0" "4417" "0" "c.*1990G>A" "r.(=)" "p.(=)" "" "0000691128" "00018552" "30" "7060" "0" "7060" "0" "c.*4633T>C" "r.(=)" "p.(=)" "" "0000723580" "00018552" "30" "2228" "0" "2228" "0" "c.2228C>G" "r.(?)" "p.(Ser743Cys)" "" "0000723581" "00018552" "50" "2978" "0" "2978" "0" "c.*551C>T" "r.(=)" "p.(=)" "" "0000723582" "00018552" "30" "4796" "0" "4796" "0" "c.*2369G>A" "r.(=)" "p.(=)" "" "0000723583" "00018552" "50" "4824" "0" "4829" "0" "c.*2397_*2402del" "r.(=)" "p.(=)" "" "0000723584" "00018552" "50" "7389" "0" "7389" "0" "c.*4962C>T" "r.(=)" "p.(=)" "" "0000723585" "00018552" "50" "18049" "0" "18049" "0" "c.*15622T>A" "r.(=)" "p.(=)" "" "0000723586" "00018552" "70" "18191" "0" "18191" "0" "c.*15764G>A" "r.(=)" "p.(=)" "" "0000805257" "00018552" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Met)" "" "0000805258" "00018552" "50" "3249" "0" "3249" "0" "c.*822C>T" "r.(=)" "p.(=)" "" "0000805259" "00018552" "30" "3609" "0" "3609" "0" "c.*1182T>C" "r.(=)" "p.(=)" "" "0000805260" "00018552" "50" "3941" "0" "3941" "0" "c.*1514G>A" "r.(=)" "p.(=)" "" "0000805261" "00018552" "10" "10667" "0" "10667" "0" "c.*8240G>C" "r.(=)" "p.(=)" "" "0000805262" "00018552" "30" "11554" "0" "11554" "0" "c.*9127C>G" "r.(=)" "p.(=)" "" "0000805263" "00018552" "50" "16817" "0" "16817" "0" "c.*14390C>T" "r.(=)" "p.(=)" "" "0000805264" "00018552" "10" "16830" "0" "16830" "0" "c.*14403G>A" "r.(=)" "p.(=)" "" "0000805265" "00018552" "30" "18116" "0" "18116" "0" "c.*15689C>T" "r.(=)" "p.(=)" "" "0000805266" "00018552" "30" "21744" "0" "21746" "0" "c.*19317_*19319del" "r.(=)" "p.(=)" "" "0000853081" "00018552" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Leu25=)" "" "0000853082" "00018552" "30" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Met268Ile)" "" "0000853083" "00018552" "30" "3301" "0" "3301" "0" "c.*874C>T" "r.(=)" "p.(=)" "" "0000853084" "00018552" "10" "3464" "0" "3464" "0" "c.*1037G>A" "r.(=)" "p.(=)" "" "0000853085" "00018552" "10" "4333" "0" "4333" "0" "c.*1906G>T" "r.(=)" "p.(=)" "" "0000853086" "00018552" "30" "4796" "0" "4796" "0" "c.*2369G>A" "r.(=)" "p.(=)" "" "0000853087" "00018552" "30" "11349" "0" "11349" "0" "c.*8922G>T" "r.(=)" "p.(=)" "" "0000853088" "00018552" "30" "16743" "0" "16743" "0" "c.*14316G>C" "r.(=)" "p.(=)" "" "0000853089" "00018552" "30" "21738" "0" "21746" "0" "c.*19311_*19319dup" "r.(=)" "p.(=)" "" "0000862632" "00018552" "30" "4796" "0" "4796" "0" "c.*2369G>A" "r.(=)" "p.(=)" "" "0000862633" "00018552" "50" "15942" "0" "15942" "0" "c.*13515G>A" "r.(=)" "p.(=)" "" "0000890059" "00018552" "30" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Lys299Glu)" "" "0000890060" "00018552" "50" "2994" "0" "2994" "0" "c.*567C>T" "r.(=)" "p.(=)" "" "0000890061" "00018552" "30" "3019" "0" "3019" "0" "c.*592G>A" "r.(=)" "p.(=)" "" "0000890062" "00018552" "30" "3175" "0" "3175" "0" "c.*748G>C" "r.(=)" "p.(=)" "" "0000890063" "00018552" "30" "3264" "0" "3264" "0" "c.*837C>T" "r.(=)" "p.(=)" "" "0000890064" "00018552" "30" "3746" "0" "3746" "0" "c.*1319C>T" "r.(=)" "p.(=)" "" "0000890065" "00018552" "10" "4441" "0" "4441" "0" "c.*2014A>G" "r.(=)" "p.(=)" "" "0000890066" "00018552" "10" "5167" "0" "5167" "0" "c.*2740C>T" "r.(=)" "p.(=)" "" "0000890067" "00018552" "30" "5445" "0" "5445" "0" "c.*3018C>T" "r.(=)" "p.(=)" "" "0000890068" "00018552" "30" "7096" "0" "7096" "0" "c.*4669T>A" "r.(=)" "p.(=)" "" "0000890069" "00018552" "30" "7096" "0" "7096" "0" "c.*4669T>A" "r.(=)" "p.(=)" "" "0000890070" "00018552" "30" "10788" "0" "10788" "0" "c.*8361G>C" "r.(=)" "p.(=)" "" "0000890071" "00018552" "10" "11439" "0" "11439" "0" "c.*9012G>C" "r.(=)" "p.(=)" "" "0000890072" "00018552" "30" "16140" "0" "16140" "0" "c.*13713C>T" "r.(=)" "p.(=)" "" "0000890073" "00018552" "10" "16140" "0" "16140" "0" "c.*13713C>T" "r.(=)" "p.(=)" "" "0000890074" "00018552" "30" "21575" "0" "21575" "0" "c.*19148G>A" "r.(=)" "p.(=)" "" "0000913653" "00018552" "30" "2994" "0" "2994" "0" "c.*567C>T" "r.(=)" "p.(=)" "" "0000913654" "00018552" "30" "4976" "0" "4976" "0" "c.*2549C>G" "r.(=)" "p.(=)" "" "0000913655" "00018552" "30" "16014" "0" "16014" "0" "c.*13587C>T" "r.(=)" "p.(=)" "" "0000913656" "00018552" "30" "16102" "0" "16102" "0" "c.*13675G>A" "r.(=)" "p.(=)" "" "0000913657" "00018552" "30" "17377" "0" "17377" "0" "c.*14950G>A" "r.(=)" "p.(=)" "" "0000913658" "00018552" "30" "17780" "0" "17780" "0" "c.*15353G>A" "r.(=)" "p.(=)" "" "0000913659" "00018552" "30" "18116" "0" "18116" "0" "c.*15689C>T" "r.(=)" "p.(=)" "" "0000913660" "00018552" "30" "18119" "0" "18119" "0" "c.*15692C>T" "r.(=)" "p.(=)" "" "0000925468" "00018552" "30" "3609" "0" 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