### 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" "00006" "2026-10-09 22:46:54" ## 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 = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03251" "STHAG6" "agenesis, tooth, selective, type 6 (STHAG-6)" "" "613097" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "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 = 10 "{{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" "00487366" "" "" "" "2" "" "00006" "{PMID:Nawaz 2023:38192829}" "5-generation family, 2 affected sibs (2F, M), unaffected parents" "M" "yes" "Egypt" "" "0" "" "" "" "FamAPatV6" "00487367" "" "" "00487366" "1" "" "00006" "{PMID:Nawaz 2023:38192829}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "FamAPatV8" "00487368" "" "" "" "2" "" "00006" "{PMID:Nawaz 2023:38192829}" "4-generation family, 2 affected sibs (F, M), unaffected parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBPatIV1" "00487369" "" "" "00487368" "1" "" "00006" "{PMID:Nawaz 2023:38192829}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBPatIV3" "00487370" "" "" "" "3" "" "00006" "{PMID:Nawaz 2023:38192829}" "4-generation family, 3 affected sibs (2F, M), unaffected parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamCPatIV1" "00487371" "" "" "00487370" "1" "" "00006" "{PMID:Nawaz 2023:38192829}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatIV2" "00487372" "" "" "00487370" "1" "" "00006" "{PMID:Nawaz 2023:38192829}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatIV5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00081438" "05155" "00331509" "05517" "00378073" "05559" "00378073" "05650" "00487366" "00198" "00487367" "00198" "00487368" "04184" "00487369" "04184" "00487370" "04184" "00487371" "04184" "00487372" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03251, 04184, 04565, 05155, 05517, 05559, 05650, 06120 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "0000369830" "00198" "00487366" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., normal motor development; short stature; short trunk; no back pain; broad chest; short neck; OFC 52cm; no webbed neck; no hypertelorism; no hypotelorism; no short philtrum; scoliosis; no lordosis; no kyphosis; clinodactyly; pes planus; yellow-brown discoloration teeth; no yellow discoloration teeth; attrition; spacing of teeth; hypodontia; no enamel; dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; no gingivitis; root canal treatment; spine anomalies; reduced disc space; flat and biconcave rectangular vertebrae; broad/round vertebral bodies; brachyolmia; spinal stenosis; no osteopenia; subchondral cysts head femur and acetabulum; calcification head femur and acetabulum; epiphyseal ossification femurs; bilateral narrow joint spaces in hips; no tibial deformity; no joint changes; no short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; bilateral hearing impairment; no speech impairment; no interatrial/atrial septal aneurysm; no dilation ascending aorta; no secundum atrial septal defect" "" "" "" "" "" "" "" "DASS;DFNB93" "short stature, hearing loss" "" "0000369831" "00198" "00487367" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., normal motor development; short stature; short trunk; no back pain; no broad chest; short neck; OFC 52cm; webbed neck; hypertelorism; no hypotelorism; short philtrum; scoliosis; no lordosis; no kyphosis; clinodactyly; pes planus; yellow-brown discoloration teeth; no yellow discoloration teeth; attrition; spacing of teeth; hypodontia; no enamel; dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; no gingivitis; root canal treatment; spine anomalies; reduced disc space; flat and biconcave rectangular vertebrae; broad/round vertebral bodies; brachyolmia; spinal stenosis; no osteopenia; subchondral cysts head femur and acetabulum; calcification head femur and acetabulum; epiphyseal ossification femurs; bilateral narrow joint spaces in hips; no tibial deformity; no joint changes; no short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; bilateral hearing impairment; no speech impairment; no interatrial/atrial septal aneurysm; no dilation ascending aorta; no secundum atrial septal defect" "" "" "" "" "" "" "" "DASS;DFNB93" "short stature, hearing loss" "" "0000369832" "04184" "00487368" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., normal motor development; short stature; short trunk; back pain; no broad chest; short neck; OFC 51cm; no webbed neck; hypertelorism; no hypotelorism; no short philtrum; no scoliosis; no lordosis; no kyphosis; no clinodactyly; no pes planus; no yellow-brown discoloration teeth; yellow discoloration teeth; attrition; spacing of teeth; hypodontia; thin enamel; no dentine reduced; dentine sensitivity; hypertaurodont; amelogenesis imperfecta; no gingivitis; root canal treatment; spine anomalies; reduced disc space; flat and biconcave rectangular vertebrae; broad/round vertebral bodies; brachyolmia; spinal stenosis; osteopenia; no subchondral cysts head femur and acetabulum; no calcification head femur and acetabulum; no epiphyseal ossification femurs; bilateral narrow joint spaces in hips; tibial deformity; no joint changes; short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; no bilateral hearing impairment; no speech impairment; interatrial/atrial septal aneurysm; dilation ascending aorta; no secundum atrial septal defect" "" "" "" "" "" "" "" "DASS" "short stature" "" "0000369833" "04184" "00487369" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., normal motor development; short stature; short trunk; back pain; no broad chest; short neck; OFC 53cm; no webbed neck; hypertelorism; no hypotelorism; no short philtrum; no scoliosis; no lordosis; no kyphosis; no clinodactyly; no pes planus; no yellow-brown discoloration teeth; yellow discoloration teeth; attrition; spacing of teeth; hypodontia; thin enamel; no dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; no gingivitis; root canal treatment; spine anomalies; reduced disc space; flat and biconcave rectangular vertebrae; broad/round vertebral bodies; brachyolmia; spinal stenosis; osteopenia; no subchondral cysts head femur and acetabulum; no calcification head femur and acetabulum; no epiphyseal ossification femurs; bilateral narrow joint spaces in hips; tibial deformity; no joint changes; short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; no bilateral hearing impairment; no speech impairment; no interatrial/atrial septal aneurysm; no dilation ascending aorta; secundum atrial septal defect" "" "" "" "" "" "" "" "DASS" "short stature" "" "0000369834" "04184" "00487370" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., normal motor development; short stature; short trunk; no back pain; broad chest; short neck; no webbed neck; no hypertelorism; no hypotelorism; no short philtrum; no scoliosis; no lordosis; no kyphosis; no clinodactyly; yellow-brown discoloration teeth; no yellow discoloration teeth; attrition; spacing of teeth; hypodontia; no enamel; dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; no gingivitis; no root canal treatment; brachyolmia; short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; no bilateral hearing impairment; no speech impairment" "" "" "" "" "" "" "" "DASS" "short stature" "" "0000369835" "04184" "00487371" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., normal motor development; short stature; short trunk; no back pain; broad chest; short neck; no webbed neck; no hypertelorism; no hypotelorism; no short philtrum; no scoliosis; no lordosis; no kyphosis; no clinodactyly; yellow-brown discoloration teeth; no yellow discoloration teeth; attrition; spacing of teeth; hypodontia; no enamel; dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; no gingivitis; no root canal treatment; brachyolmia; short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; no bilateral hearing impairment; no speech impairment" "" "" "" "" "" "" "" "DASS" "short stature" "" "0000369836" "04184" "00487372" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., normal motor development; short stature; short trunk; no back pain; broad chest; short neck; no webbed neck; no hypertelorism; no hypotelorism; no short philtrum; no scoliosis; no lordosis; no kyphosis; no clinodactyly; yellow-brown discoloration teeth; no yellow discoloration teeth; attrition; spacing of teeth; hypodontia; no enamel; dentine reduced; dentine sensitivity; no hypertaurodont; amelogenesis imperfecta; gingivitis; no root canal treatment; brachyolmia; short limbs, hands, and feet; short distal phalanges; no ocular abnormalities; no bilateral hearing impairment; no speech impairment" "" "" "" "" "" "" "" "DASS" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "0000489023" "00487366" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489024" "00487367" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489025" "00487368" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489026" "00487369" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489027" "00487370" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489028" "00487371" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489029" "00487372" "1" "00006" "00006" "2026-10-09 22:46:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 217 "{{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" "" "0001053928" "0" "50" "11" "65304481" "65304482" "del" "3.66697E-5" "01804" "SCYL1_000089" "g.65304481_65304482del" "" "" "" "SCYL1(NM_020680.4):c.1841_1842del (p.(Pro614Argfs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053929" "0" "50" "11" "65307308" "65307308" "subst" "0" "01804" "SCYL1_000090" "g.65307308C>T" "" "" "" "LTBP3(NM_001130144.3):c.3430G>A (p.(Glu1144Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053930" "0" "50" "11" "65318635" "65318635" "subst" "0" "01804" "SCYL1_000091" "g.65318635G>T" "" "" "" "LTBP3(NM_001130144.3):c.1682C>A (p.(Ser561Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053931" "0" "30" "11" "65325345" "65325356" "dup" "0" "01804" "SCYL1_000092" "g.65325345_65325356dup" "" "" "" "LTBP3(NM_001130144.3):c.94_105dup (p.(Leu32_Leu35dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065505" "0" "50" "11" "65307815" "65307815" "subst" "0" "02327" "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" "" "0001092948" "3" "90" "11" "65306931" "65306931" "subst" "0" "00006" "chr11_008856" "g.65306931C>A" "" "{PMID:Nawaz 2023:38192829}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65539460C>A" "" "pathogenic (recessive)" "" "0001092949" "3" "90" "11" "65306931" "65306931" "subst" "0" "00006" "chr11_008856" "g.65306931C>A" "" "{PMID:Nawaz 2023:38192829}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65539460C>A" "" "pathogenic (recessive)" "" "0001092950" "3" "90" "11" "65325305" "65325305" "del" "0" "00006" "chr11_008857" "g.65325305del" "" "{PMID:Nawaz 2023:38192829}" "" "132delG" "" "Germline" "yes" "" "0" "" "" "g.65557834del" "" "pathogenic (recessive)" "" "0001092951" "3" "90" "11" "65325305" "65325305" "del" "0" "00006" "chr11_008857" "g.65325305del" "" "{PMID:Nawaz 2023:38192829}" "" "132delG" "" "Germline" "yes" "" "0" "" "" "g.65557834del" "" "pathogenic (recessive)" "" "0001092952" "3" "90" "11" "65314288" "65314288" "del" "0" "00006" "chr11_008858" "g.65314288del" "" "{PMID:Nawaz 2023:38192829}" "" "2216delG" "" "Germline" "yes" "" "0" "" "" "g.65546817del" "" "pathogenic (recessive)" "" "0001092953" "3" "90" "11" "65314288" "65314288" "del" "0" "00006" "chr11_008858" "g.65314288del" "" "{PMID:Nawaz 2023:38192829}" "" "2216delG" "" "Germline" "yes" "" "0" "" "" "g.65546817del" "" "pathogenic (recessive)" "" "0001092954" "3" "90" "11" "65314288" "65314288" "del" "0" "00006" "chr11_008858" "g.65314288del" "" "{PMID:Nawaz 2023:38192829}" "" "2216delG" "" "Germline" "yes" "" "0" "" "" "g.65546817del" "" "pathogenic (recessive)" "" ## 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 = 217 "{{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)" "" "0001053928" "00024184" "50" "5981" "0" "5982" "0" "c.*2069_*2070del" "r.(=)" "p.(=)" "" "0001053929" "00024184" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Glu1144Lys)" "" "0001053930" "00024184" "50" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ser561Tyr)" "" "0001053931" "00024184" "30" "94" "0" "105" "0" "c.94_105dup" "r.(?)" "p.(Leu32_Leu35dup)" "" "0001065505" "00024184" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Arg)" "" "0001092948" "00024184" "90" "3629" "-1" "3629" "-1" "c.3629-1G>T" "r.spl" "p.?" "" "0001092949" "00024184" "90" "3629" "-1" "3629" "-1" "c.3629-1G>T" "r.spl" "p.?" "" "0001092950" "00024184" "90" "132" "0" "132" "0" "c.132del" "r.(?)" "p.(Pro45ArgfsTer25)" "" "0001092951" "00024184" "90" "132" "0" "132" "0" "c.132del" "r.spl" "p.(Pro45ArgfsTer25)" "" "0001092952" "00024184" "90" "2216" "0" "2216" "0" "c.2216del" "r.spl" "p.(Gly739AlafsTer7)" "" "0001092953" "00024184" "90" "2216" "0" "2216" "0" "c.2216del" "r.spl" "p.(Gly739AlafsTer7)" "" "0001092954" "00024184" "90" "2216" "0" "2216" "0" "c.2216del" "r.spl" "p.(Gly739AlafsTer7)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000081583" "0000132247" "0000332728" "0000730010" "0000379273" "0000792416" "0000489023" "0001092948" "0000489024" "0001092949" "0000489025" "0001092950" "0000489026" "0001092951" "0000489027" "0001092952" "0000489028" "0001092953" "0000489029" "0001092954"