### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLOD3) # 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}}" "PLOD3" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3" "7" "q22.1" "unknown" "NG_012148.1" "UD_132119025020" "" "https://www.LOVD.nl/PLOD3" "" "1" "9083" "8985" "603066" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PLOD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-07-29 00:00:00" "00006" "2023-10-19 09:00:51" "00000" "2023-11-27 17:35:39" ## 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}}" "00016374" "PLOD3" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3" "001" "NM_001084.4" "" "NP_001075.1" "" "" "" "-456" "2521" "2217" "100861011" "100849258" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03136" "-" "Lysyl hydroxylase 3 deficiency" "AR" "612394" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PLOD3" "03136" ## 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}}" "00294220" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294221" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294222" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294223" "" "" "" "48" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301723" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "" "" "0" "" "" "" "17-4086" "00301747" "" "" "" "1" "" "00006" "{PMID:Salo 2008:18834968}" "2-generation family, 1 affected and stillborn (28w gestation) fetus, unaffected heterozygous carrier parents/relatives" "F" "no" "" "" "0" "" "" "Europe" "patient" "00301748" "" "" "" "1" "" "00006" "Steichen-Gersdorf 2013 ESHG P01.076" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "patient" "00301749" "" "" "" "3" "" "00006" "{PMID:Ewans 2019:31129566}" "5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "" "yes" "Australia" "" "0" "" "" "Lebanon" "FamPats" "00301750" "" "" "" "1" "" "00006" "{PMID:Vahidnezhad 2019:30463024}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "patient" "00305124" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00294220" "00198" "00294221" "00198" "00294222" "00198" "00294223" "00198" "00301723" "00198" "00301747" "00198" "00301748" "00169" "00301749" "00169" "00301750" "00198" "00305124" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 03136 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000228821" "00198" "00301723" "00006" "Familial, autosomal recessive" "9y" "failure to thrive, developmental delay and skeletal findings. He had no head control at 6 months, could not sit at 10 months, and only walked at 2 years. He has history of undescended right testicle status post orchidopexy. Examination revealed microcephaly, truncal hypotonia, flat occiput, midface hypoplasia, bilateral ptosis, blue sclera, depressed nasal bridge, micrognathia, low set posteriorly rotated small ears, camptodactyly, and distal arthrogryposis. Parents are distant cousins and he has an affected sister." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228845" "00198" "00301747" "00006" "Familial, autosomal recessive" "" "see paper; ..., connective tissue disorder with unique phenotype overlapping collagen disorders like Stickler syndrome, Ehlers-Danlos syndrome type IV, Ehlers-Danlos syndrome type VI, Bruck syndrome and epidermolysis bullosa" "" "" "" "" "" "" "" "" "" "" "" "" "" "intrauterine growth retardation" "" "0000228846" "00169" "00301748" "00006" "Familial, autosomal recessive" "10y" "severe S-formed scoliosis, ptosis right eyelid, asymmetrical face, midface hypoplasia, shallow orbitae with pseudoexophtalmus, bilateral adducted thumbs, non progressive flexion contractures proximal finger joints, atrophy thenar muscles, overall poor muscle development; 2y-bilateral sensorineural deafness; thin and soft skin, without scarring, reduced skin creases both palms; motor development slightly retarded, cognitive function mildly impaired; sister similarly affected, no significant scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos-syndrome" "" "0000228847" "00169" "00301749" "00006" "Familial, autosomal recessive" "" "see paper; ..., ocular abnormalities, risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental delay, risk for vascular dissection" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome-like" "" "0000228848" "00198" "00301750" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., extensive connective tissue abnormalities, skin blistering and erosions since birth, consistent with dystrophic forms of epidermolysis bullosa" "" "" "" "" "" "" "" "" "" "" "" "" "" "epidermolysis bullosa" "" ## 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}}" "0000295388" "00294220" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295389" "00294221" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295390" "00294222" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295391" "00294223" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302847" "00301723" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000302871" "00301747" "1" "00006" "00006" "2020-05-22 19:17:06" "" "" "SEQ" "DNA" "" "" "0000302872" "00301748" "1" "00006" "00006" "2020-05-22 19:17:06" "" "" "SEQ" "DNA" "" "" "0000302873" "00301749" "1" "00006" "00006" "2020-05-22 19:17:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302874" "00301750" "1" "00006" "00006" "2020-05-22 19:17:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306253" "00305124" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000302847" "PLOD3" "0000302871" "PLOD3" "0000302872" "PLOD3" "0000302873" "PLOD3" "0000302874" "PLOD3" ## 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 = 59 "{{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}}" "0000250216" "0" "10" "7" "100850048" "100850048" "subst" "0.14629" "02329" "PLOD3_000007" "g.100850048A>G" "" "" "" "PLOD3(NM_001084.5):c.2061+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101206767A>G" "" "benign" "" "0000298919" "0" "10" "7" "100855215" "100855215" "subst" "0.00586312" "02329" "PLOD3_000010" "g.100855215C>G" "" "" "" "PLOD3(NM_001084.5):c.1144G>C (p.D382H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101211934C>G" "" "benign" "" "0000298920" "0" "10" "7" "100855180" "100855180" "subst" "0.00693919" "02329" "PLOD3_000039" "g.100855180G>A" "" "" "" "PLOD3(NM_001084.5):c.1179C>T (p.A393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101211899G>A" "" "benign" "" "0000298921" "0" "10" "7" "100855107" "100855107" "subst" "0.0356748" "02329" "PLOD3_000038" "g.100855107G>A" "" "" "" "PLOD3(NM_001084.5):c.1232+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101211826G>A" "" "benign" "" "0000298922" "0" "10" "7" "100855001" "100855001" "subst" "0.0673514" "02329" "PLOD3_000037" "g.100855001C>T" "" "" "" "PLOD3(NM_001084.5):c.1233-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101211720C>T" "" "benign" "" "0000298923" "0" "10" "7" "100860054" "100860054" "subst" "0.00539782" "02329" "PLOD3_000015" "g.100860054C>T" "" "" "" "PLOD3(NM_001084.5):c.123G>A (p.V41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101216773C>T" "" "benign" "" "0000298924" "0" "30" "7" "100853972" "100853972" "subst" "0.000404237" "02329" "PLOD3_000035" "g.100853972G>A" "" "" "" "PLOD3(NM_001084.5):c.1359-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101210691G>A" "" "likely benign" "" "0000298925" "0" "30" "7" "100853973" "100853973" "subst" "0.000106162" "02329" "PLOD3_000036" "g.100853973C>T" "" "" "" "PLOD3(NM_001084.5):c.1359-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101210692C>T" "" "likely benign" "" "0000298926" "0" "10" "7" "100853911" "100853911" "subst" "0.00960367" "02329" "PLOD3_000034" "g.100853911G>C" "" "" "" "PLOD3(NM_001084.5):c.1402C>G (p.R468G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101210630G>C" "" "benign" "" "0000298927" "0" "30" "7" "100850997" "100850997" "subst" "0.00373808" "02329" "PLOD3_000009" "g.100850997C>T" "" "" "" "PLOD3(NM_001084.4):c.1797G>A (p.R599=), PLOD3(NM_001084.5):c.1797G>A (p.R599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101207716C>T" "" "likely benign" "" "0000298928" "0" "30" "7" "100850108" "100850108" "subst" "0" "02329" "PLOD3_000008" "g.100850108G>A" "" "" "" "PLOD3(NM_001084.5):c.2013C>T (p.S671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101206827G>A" "" "likely benign" "" "0000298929" "0" "10" "7" "100859234" "100859234" "subst" "0.0273616" "02329" "PLOD3_000014" "g.100859234G>A" "" "" "" "PLOD3(NM_001084.5):c.570C>T (p.D190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101215953G>A" "" "benign" "" "0000298930" "0" "50" "7" "100859233" "100859233" "subst" "0.000117799" "02329" "PLOD3_000013" "g.100859233C>T" "" "" "" "PLOD3(NM_001084.5):c.571G>A (p.D191N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101215952C>T" "" "VUS" "" "0000298931" "0" "10" "7" "100855952" "100855952" "subst" "0.00252828" "02329" "PLOD3_000012" "g.100855952C>T" "" "" "" "PLOD3(NM_001084.5):c.880-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101212671C>T" "" "benign" "" "0000298932" "0" "30" "7" "100855841" "100855841" "subst" "0.000325359" "02329" "PLOD3_000011" "g.100855841G>A" "" "" "" "PLOD3(NM_001084.5):c.975C>T (p.P325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101212560G>A" "" "likely benign" "" "0000313173" "0" "10" "7" "100861213" "100861213" "subst" "0.234236" "02325" "ZNHIT1_000007" "g.100861213T>C" "" "" "" "ZNHIT1(NM_006349.3):c.-264T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101217932T>C" "" "benign" "" "0000345881" "0" "50" "7" "100858379" "100858379" "subst" "0" "02327" "PLOD3_000016" "g.100858379C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101215098C>T" "" "VUS" "" "0000530122" "0" "50" "7" "100849570" "100849570" "subst" "0.0000121935" "01804" "PLOD3_000017" "g.100849570C>T" "" "" "" "PLOD3(NM_001084.4):c.2209G>A (p.(Asp737Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101206289C>T" "" "VUS" "" "0000530123" "0" "10" "7" "100850144" "100850144" "subst" "0.0154225" "02329" "PLOD3_000018" "g.100850144G>A" "" "" "" "PLOD3(NM_001084.5):c.1977C>T (p.D659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101206863G>A" "" "benign" "" "0000530124" "0" "10" "7" "100850908" "100850908" "subst" "0.012618" "02329" "PLOD3_000019" "g.100850908G>A" "" "" "" "PLOD3(NM_001084.5):c.1886C>T (p.T629M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101207627G>A" "" "benign" "" "0000530125" "0" "30" "7" "100850982" "100850982" "subst" "0.000300774" "02329" "PLOD3_000020" "g.100850982G>A" "" "" "" "PLOD3(NM_001084.5):c.1812C>T (p.Y604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101207701G>A" "" "likely benign" "" "0000530126" "0" "10" "7" "100853714" "100853714" "subst" "0.0127434" "02329" "PLOD3_000021" "g.100853714G>A" "" "" "" "PLOD3(NM_001084.5):c.1512C>T (p.L504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101210433G>A" "" "benign" "" "0000530127" "0" "10" "7" "100853807" "100853807" "subst" "0.0124382" "02329" "PLOD3_000022" "g.100853807G>A" "" "" "" "PLOD3(NM_001084.5):c.1500+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101210526G>A" "" "benign" "" "0000530128" "0" "30" "7" "100855119" "100855119" "subst" "0.0000377134" "01804" "PLOD3_000023" "g.100855119T>G" "" "" "" "PLOD3(NM_001084.4):c.1232+8A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101211838T>G" "" "likely benign" "" "0000530131" "0" "10" "7" "100855823" "100855823" "subst" "0.0119332" "02329" "PLOD3_000025" "g.100855823G>A" "" "" "" "PLOD3(NM_001084.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101212542G>A" "" "benign" "" "0000530132" "0" "10" "7" "100855877" "100855877" "subst" "0.0120813" "02329" "PLOD3_000026" "g.100855877G>A" "" "" "" "PLOD3(NM_001084.5):c.939C>T (p.R313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101212596G>A" "" "benign" "" "0000530133" "0" "30" "7" "100858450" "100858450" "subst" "0.00104762" "02329" "PLOD3_000027" "g.100858450G>A" "" "" "" "PLOD3(NM_001084.5):c.616-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101215169G>A" "" "likely benign" "" "0000530134" "0" "30" "7" "100859969" "100859969" "dup" "0" "01804" "PLOD3_000028" "g.100859969dup" "" "" "" "PLOD3(NM_001084.4):c.201+7dupA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101216688dup" "" "likely benign" "" "0000610577" "0" "30" "7" "100851013" "100851013" "subst" "0.0000368484" "01943" "PLOD3_000029" "g.100851013C>T" "" "" "" "PLOD3(NM_001084.4):c.1789-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101207732C>T" "" "likely benign" "" "0000610578" "0" "10" "7" "100852251" "100852251" "subst" "0.00137453" "02329" "PLOD3_000030" "g.100852251C>T" "" "" "" "PLOD3(NM_001084.5):c.1684-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101208970C>T" "" "benign" "" "0000621791" "0" "50" "7" "100853847" "100853847" "subst" "0.000528129" "01943" "PLOD3_000031" "g.100853847G>A" "" "" "" "PLOD3(NM_001084.4):c.1466C>T (p.P489L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101210566G>A" "" "VUS" "" "0000652077" "1" "30" "7" "100855215" "100855215" "subst" "0.00586312" "03575" "PLOD3_000010" "g.100855215C>G" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs41281013}" "Germline" "" "rs41281013" "0" "" "" "g.101211934C>G" "" "likely benign" "" "0000652078" "1" "50" "7" "100855929" "100855929" "subst" "0.000362658" "03575" "PLOD3_000032" "g.100855929G>C" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs143577626}" "Germline" "" "rs143577626" "0" "" "" "g.101212648G>C" "" "VUS" "" "0000652079" "1" "90" "7" "100858381" "100858381" "subst" "0.0000081211" "03575" "PLOD3_000033" "g.100858381T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121434414}" "Germline" "" "rs121434414" "0" "" "" "g.101215100T>C" "" "pathogenic" "" "0000652080" "1" "10" "7" "100859234" "100859234" "subst" "0.0273616" "03575" "PLOD3_000014" "g.100859234G>A" "48/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "48 heterozygous; {DB:CLININrs35159414}" "Germline" "" "rs35159414" "0" "" "" "g.101215953G>A" "" "benign" "" "0000666204" "3" "90" "7" "100854876" "100854876" "subst" "0.00000460842" "00006" "PLOD3_000004" "g.100854876G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.101211595G>A" "" "pathogenic (recessive)" "ACMG" "0000666228" "21" "90" "7" "100858381" "100858381" "subst" "0.0000081211" "00006" "PLOD3_000001" "g.100858381T>C" "" "{PMID:Salo 2008:18834968}" "" "" "" "Germline" "" "" "0" "" "" "g.101215100T>C" "" "pathogenic (recessive)" "" "0000666229" "11" "90" "7" "100849708" "100849708" "del" "0" "00006" "PLOD3_000002" "g.100849708del" "" "{PMID:Salo 2008:18834968}" "" "2071delT" "" "Germline" "" "" "0" "" "" "g.101206427del" "" "pathogenic (recessive)" "" "0000666230" "3" "90" "7" "100850858" "100850858" "subst" "0" "00006" "PLOD3_000003" "g.100850858C>T" "" "Steichen-Gersdorf 2013 ESHG P01.076" "" "" "" "Germline" "" "" "0" "" "" "g.101207577C>T" "" "pathogenic (recessive)" "" "0000666231" "3" "90" "7" "100856193" "100856193" "subst" "0" "00006" "PLOD3_000005" "g.100856193G>A" "" "{PMID:Ewans 2019:31129566}" "" "" "" "Germline" "" "" "0" "" "" "g.101212912G>A" "" "pathogenic (recessive)" "" "0000666232" "3" "90" "7" "100850914" "100850914" "subst" "0" "00006" "PLOD3_000006" "g.100850914A>G" "" "{PMID:Vahidnezhad 2019:30463024}" "" "" "" "Germline" "" "" "0" "" "" "g.101207633A>G" "" "pathogenic (recessive)" "" "0000669941" "3" "10" "7" "100859234" "100859234" "subst" "0.0273616" "03575" "PLOD3_000014" "g.100859234G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35159414}" "Germline" "" "rs35159414" "0" "" "" "g.101215953G>A" "" "benign" "" "0000677913" "0" "30" "7" "100850188" "100850188" "subst" "0.0000906114" "01943" "PLOD3_000040" "g.100850188G>A" "" "" "" "PLOD3(NM_001084.4):c.1936-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689839" "0" "30" "7" "100850997" "100850997" "subst" "0.00373808" "01943" "PLOD3_000009" "g.100850997C>T" "" "" "" "PLOD3(NM_001084.4):c.1797G>A (p.R599=), PLOD3(NM_001084.5):c.1797G>A (p.R599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689840" "0" "30" "7" "100854940" "100854940" "subst" "0.00021778" "01943" "PLOD3_000041" "g.100854940G>A" "" "" "" "PLOD3(NM_001084.4):c.1290C>T (p.G430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721153" "0" "30" "7" "100853612" "100853612" "subst" "0.000297597" "01943" "PLOD3_000042" "g.100853612G>A" "" "" "" "PLOD3(NM_001084.4):c.1614C>T (p.V538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802795" "0" "30" "7" "100850155" "100850155" "subst" "0.0000503747" "01943" "PLOD3_000043" "g.100850155A>G" "" "" "" "PLOD3(NM_001084.4):c.1966T>C (p.Y656H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802796" "0" "30" "7" "100855231" "100855231" "subst" "0" "01943" "PLOD3_000044" "g.100855231C>T" "" "" "" "PLOD3(NM_001084.4):c.1128G>A (p.M376I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802797" "0" "30" "7" "100858447" "100858447" "subst" "0" "02329" "PLOD3_000045" "g.100858447G>A" "" "" "" "PLOD3(NM_001084.5):c.616-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802798" "0" "50" "7" "100859222" "100859222" "subst" "0" "01943" "PLOD3_000046" "g.100859222G>C" "" "" "" "PLOD3(NM_001084.4):c.582C>G (p.F194L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851344" "0" "30" "7" "100856190" "100856190" "subst" "0.000345571" "01943" "PLOD3_000048" "g.100856190T>C" "" "" "" "PLOD3(NM_001084.4):c.812A>G (p.N271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851345" "0" "30" "7" "100859469" "100859469" "subst" "0.0000976022" "01943" "PLOD3_000050" "g.100859469C>T" "" "" "" "PLOD3(NM_001084.4):c.477G>A (p.T159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860562" "0" "30" "7" "100855855" "100855855" "subst" "0.000345596" "02329" "PLOD3_000047" "g.100855855G>A" "" "" "" "PLOD3(NM_001084.5):c.961C>T (p.L321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860563" "0" "50" "7" "100859462" "100859462" "subst" "0.000085379" "01943" "PLOD3_000049" "g.100859462G>A" "" "" "" "PLOD3(NM_001084.4):c.484C>T (p.R162C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860564" "0" "50" "7" "100859814" "100859814" "subst" "0" "01943" "PLOD3_000051" "g.100859814C>G" "" "" "" "PLOD3(NM_001084.4):c.215G>C (p.G72A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887521" "0" "10" "7" "100850135" "100850135" "subst" "0.00369035" "02329" "PLOD3_000052" "g.100850135C>T" "" "" "" "PLOD3(NM_001084.5):c.1986G>A (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924604" "0" "30" "7" "100859215" "100859215" "subst" "0" "02329" "PLOD3_000053" "g.100859215G>T" "" "" "" "PLOD3(NM_001084.5):c.589C>A (p.R197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929257" "0" "30" "7" "100853379" "100853379" "subst" "0.00155229" "02329" "PLOD3_000054" "g.100853379C>G" "" "" "" "PLOD3(NM_001084.5):c.1678G>C (p.E560Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948789" "0" "10" "7" "100858351" "100858351" "subst" "0.00121819" "02329" "PLOD3_000055" "g.100858351C>T" "" "" "" "PLOD3(NM_001084.5):c.679+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLOD3 ## Count = 59 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000250216" "00016374" "10" "2061" "12" "2061" "12" "c.2061+12T>C" "r.(=)" "p.(=)" "" "" "" "0000298919" "00016374" "10" "1144" "0" "1144" "0" "c.1144G>C" "r.(?)" "p.(Asp382His)" "" "" "" "0000298920" "00016374" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Ala393=)" "" "" "" "0000298921" "00016374" "10" "1232" "20" "1232" "20" "c.1232+20C>T" "r.(=)" "p.(=)" "" "" "" "0000298922" "00016374" "10" "1233" "-4" "1233" "-4" "c.1233-4G>A" "r.spl?" "p.?" "" "" "" "0000298923" "00016374" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Val41=)" "" "" "" "0000298924" "00016374" "30" "1359" "-18" "1359" "-18" "c.1359-18C>T" "r.(=)" "p.(=)" "" "" "" "0000298925" "00016374" "30" "1359" "-19" "1359" "-19" "c.1359-19G>A" "r.(=)" "p.(=)" "" "" "" "0000298926" "00016374" "10" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Arg468Gly)" "" "" "" "0000298927" "00016374" "30" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Arg599=)" "" "" "" "0000298928" "00016374" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Ser671=)" "" "" "" "0000298929" "00016374" "10" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Asp190=)" "" "" "" "0000298930" "00016374" "50" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Asp191Asn)" "" "" "" "0000298931" "00016374" "10" "880" "-16" "880" "-16" "c.880-16G>A" "r.(=)" "p.(=)" "" "" "" "0000298932" "00016374" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Pro325=)" "" "" "" "0000313173" "00016374" "10" "-658" "0" "-658" "0" "c.-658A>G" "r.(?)" "p.(=)" "" "" "" "0000345881" "00016374" "50" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Gly224Arg)" "" "" "" "0000530122" "00016374" "50" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Asp737Asn)" "" "" "" "0000530123" "00016374" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Asp659=)" "" "" "" "0000530124" "00016374" "10" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Thr629Met)" "" "" "" "0000530125" "00016374" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Tyr604=)" "" "" "" "0000530126" "00016374" "10" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Leu504=)" "" "" "" "0000530127" "00016374" "10" "1500" "6" "1500" "6" "c.1500+6C>T" "r.(=)" "p.(=)" "" "" "" "0000530128" "00016374" "30" "1232" "8" "1232" "8" "c.1232+8A>C" "r.(=)" "p.(=)" "" "" "" "0000530131" "00016374" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" "" "" "" "0000530132" "00016374" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Arg313=)" "" "" "" "0000530133" "00016374" "30" "616" "-17" "616" "-17" "c.616-17C>T" "r.(=)" "p.(=)" "" "" "" "0000530134" "00016374" "30" "201" "7" "201" "7" "c.201+7dup" "r.(=)" "p.(=)" "" "" "" "0000610577" "00016374" "30" "1789" "-8" "1789" "-8" "c.1789-8G>A" "r.(=)" "p.(=)" "" "" "" "0000610578" "00016374" "10" "1684" "-13" "1684" "-13" "c.1684-13G>A" "r.(=)" "p.(=)" "" "" "" "0000621791" "00016374" "50" "1466" "0" "1466" "0" "c.1466C>T" "r.(?)" "p.(Pro489Leu)" "" "" "" "0000652077" "00016374" "30" "1144" "0" "1144" "0" "c.1144G>C" "r.(?)" "p.(Asp382His)" "" "" "" "0000652078" "00016374" "50" "887" "0" "887" "0" "c.887C>G" "r.(?)" "p.(Pro296Arg)" "" "" "" "0000652079" "00016374" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Asn223Ser)" "" "" "" "0000652080" "00016374" "10" "570" "0" "570" "0" "c.570C>T" "r.(=)" "p.(=)" "" "" "" "0000666204" "00016374" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" "" "" "" "0000666228" "00016374" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Asn223Ser)" "" "" "" "0000666229" "00016374" "90" "2071" "0" "2071" "0" "c.2071del" "r.(?)" "p.(Cys691Alafs*9)" "" "" "" "0000666230" "00016374" "90" "1935" "1" "1935" "1" "c.1935+1G>A" "r.spl" "p.?" "" "" "" "0000666231" "00016374" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "" "" "0000666232" "00016374" "90" "1880" "0" "1880" "0" "c.1880T>C" "r.(?)" "p.(.Leu627Pro)" "" "" "" "0000669941" "00016374" "10" "570" "0" "570" "0" "c.570C>T" "r.(=)" "p.(=)" "" "" "" "0000677913" "00016374" "30" "1936" "-3" "1936" "-3" "c.1936-3C>T" "r.spl?" "p.?" "" "" "" "0000689839" "00016374" "30" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Arg599=)" "" "" "" "0000689840" "00016374" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Gly430=)" "" "" "" "0000721153" "00016374" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Val538=)" "" "" "" "0000802795" "00016374" "30" "1966" "0" "1966" "0" "c.1966T>C" "r.(?)" "p.(Tyr656His)" "" "" "" "0000802796" "00016374" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Met376Ile)" "" "" "" "0000802797" "00016374" "30" "616" "-14" "616" "-14" "c.616-14C>T" "r.(=)" "p.(=)" "" "" "" "0000802798" "00016374" "50" "582" "0" "582" "0" "c.582C>G" "r.(?)" "p.(Phe194Leu)" "" "" "" "0000851344" "00016374" "30" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Asn271Ser)" "" "" "" "0000851345" "00016374" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Thr159=)" "" "" "" "0000860562" "00016374" "30" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Leu321=)" "" "" "" "0000860563" "00016374" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" "" "" "0000860564" "00016374" "50" "215" "0" "215" "0" "c.215G>C" "r.(?)" "p.(Gly72Ala)" "" "" "" "0000887521" "00016374" "10" "1986" "0" "1986" "0" "c.1986G>A" "r.(?)" "p.(Pro662=)" "" "" "" "0000924604" "00016374" "30" "589" "0" "589" "0" "c.589C>A" "r.(?)" "p.(Arg197=)" "" "" "" "0000929257" "00016374" "30" "1678" "0" "1678" "0" "c.1678G>C" "r.(?)" "p.(Glu560Gln)" "" "" "" "0000948789" "00016374" "10" "679" "19" "679" "19" "c.679+19G>A" "r.(=)" "p.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000295388" "0000652077" "0000295389" "0000652078" "0000295390" "0000652079" "0000295391" "0000652080" "0000302847" "0000666204" "0000302871" "0000666228" "0000302871" "0000666229" "0000302872" "0000666230" "0000302873" "0000666231" "0000302874" "0000666232" "0000306253" "0000669941"