### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL10A1) # 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}}" "COL10A1" "collagen, type X, alpha 1" "6" "q21-q22" "unknown" "NG_008032.1" "UD_132118600828" "" "http://www.LOVD.nl/COL10A1" "" "1" "2185" "1300" "120110" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/COL10A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-01-20 00:00:00" "00006" "2015-02-14 22:11:55" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005484" "COL10A1" "collagen, type X, alpha 1" "001" "NM_000493.3" "" "NP_000484.2" "" "" "" "-96" "3194" "2043" "116447296" "116440085" "" "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}}" "01436" "MCDS" "chondrodysplasia, metaphyseal, Schmid type" "AD" "156500" "" "" "" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL10A1" "01436" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00362001" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat4AB" "00415287" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "5_AD" "00466702" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00362001" "04214" "00415287" "04214" "00466702" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01436, 04184, 04214 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000257394" "04214" "00362001" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "0000307085" "04214" "00415287" "00000" "Familial, autosomal dominant" "" "OMIM: 156500; short stature, coxa vara, lower tibial bowing, and cupping metaphyseal at proximal phalanges" "" "" "" "" "" "" "" "Metaphyseal Chondrodysplasia, Schmid Type" "" "0000352065" "04184" "00466702" "00006" "Unknown" "8y" "see paper; ..., small for gestational age, growth hormone deficiency, minor stigmata; height SDS-2.84; birth weight SDS-2.59, length SDS-2.83" "" "" "" "" "" "" "" "" "short stature" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000363229" "00362001" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416569" "00415287" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000468366" "00466702" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000416569" "COL10A1" ## 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 = 50 "{{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}}" "0000248849" "0" "10" "6" "116446576" "116446576" "subst" "0.369307" "02325" "COL10A1_000003" "g.116446576A>G" "" "" "" "COL10A1(NM_000493.4):c.80T>C (p.M27T), NT5DC1(NM_152729.3):c.529+7468A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116125413A>G" "" "benign" "" "0000266884" "0" "10" "6" "116441230" "116441231" "ins" "0" "02325" "COL10A1_000001" "g.116441230_116441231insGGG" "" "" "" "COL10A1(NM_000493.4):c.*5_*6insCCC, NT5DC1(NM_152729.3):c.529+2122_529+2123insGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116120067_116120068insGGG" "" "benign" "" "0000300456" "0" "30" "6" "116427525" "116427525" "del" "0" "02326" "NT5DC1_000001" "g.116427525del" "" "" "" "NT5DC1(NM_152729.2):c.185+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116106362del" "" "likely benign" "" "0000331171" "0" "30" "6" "116442897" "116442897" "subst" "0.00690885" "01804" "COL10A1_000002" "g.116442897C>T" "" "" "" "COL10A1(NM_000493.3):c.382G>A (p.(Asp128Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116121734C>T" "" "likely benign" "" "0000526924" "0" "50" "6" "116439060" "116439060" "subst" "8.56318E-5" "01804" "COL10A1_000004" "g.116439060G>A" "" "" "" "NT5DC1(NM_152729.2):c.481G>A (p.(Asp161Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116117897G>A" "" "VUS" "" "0000526926" "0" "50" "6" "116441754" "116441754" "subst" "0" "01804" "COL10A1_000006" "g.116441754G>A" "" "" "" "COL10A1(NM_000493.3):c.1525C>T (p.(Pro509Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116120591G>A" "" "VUS" "" "0000526927" "0" "30" "6" "116441862" "116441862" "subst" "2.0734E-5" "02327" "COL10A1_000007" "g.116441862C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116120699C>T" "" "likely benign" "" "0000526928" "0" "50" "6" "116442231" "116442231" "subst" "0" "02327" "COL10A1_000008" "g.116442231C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121068C>T" "" "VUS" "" "0000526929" "0" "30" "6" "116442414" "116442414" "subst" "0.000163213" "01804" "COL10A1_000009" "g.116442414T>C" "" "" "" "COL10A1(NM_000493.3):c.865A>G (p.(Ile289Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121251T>C" "" "likely benign" "" "0000526930" "0" "30" "6" "116442496" "116442496" "subst" "0" "01804" "COL10A1_000010" "g.116442496T>G" "" "" "" "COL10A1(NM_000493.3):c.783A>C (p.(Glu261Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121333T>G" "" "likely benign" "" "0000526931" "0" "30" "6" "116442506" "116442506" "subst" "0.000479492" "01943" "COL10A1_000011" "g.116442506C>T" "" "" "" "COL10A1(NM_000493.3):c.773G>A (p.R258Q, p.(Arg258Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121343C>T" "" "likely benign" "" "0000526932" "0" "30" "6" "116442506" "116442506" "subst" "0.000479492" "01804" "COL10A1_000011" "g.116442506C>T" "" "" "" "COL10A1(NM_000493.3):c.773G>A (p.R258Q, p.(Arg258Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121343C>T" "" "likely benign" "" "0000526933" "0" "30" "6" "116442686" "116442686" "subst" "0.00259196" "01943" "COL10A1_000012" "g.116442686C>T" "" "" "" "COL10A1(NM_000493.3):c.593G>A (p.R198H, p.(Arg198His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121523C>T" "" "likely benign" "" "0000609950" "0" "30" "6" "116442018" "116442018" "subst" "0.000430856" "01804" "COL10A1_000013" "g.116442018G>A" "" "" "" "COL10A1(NM_000493.3):c.1261C>T (p.(Pro421Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116120855G>A" "" "likely benign" "" "0000609951" "0" "30" "6" "116442686" "116442686" "subst" "0.00259196" "01804" "COL10A1_000012" "g.116442686C>T" "" "" "" "COL10A1(NM_000493.3):c.593G>A (p.R198H, p.(Arg198His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116121523C>T" "" "likely benign" "" "0000655472" "0" "10" "6" "116446576" "116446576" "subst" "0.369307" "02327" "COL10A1_000003" "g.116446576A>G" "" "" "" "COL10A1(NM_000493.4):c.80T>C (p.M27T), NT5DC1(NM_152729.3):c.529+7468A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116125413A>G" "" "benign" "" "0000689609" "0" "50" "6" "116441459" "116441459" "subst" "0" "02327" "COL10A1_000014" "g.116441459C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689610" "0" "30" "6" "116446506" "116446506" "subst" "0.00382626" "01804" "COL10A1_000015" "g.116446506A>T" "" "" "" "COL10A1(NM_000493.3):c.150T>A (p.S50R, p.(Ser50Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720643" "0" "30" "6" "116442866" "116442866" "subst" "0.000182847" "01804" "COL10A1_000016" "g.116442866C>T" "" "" "" "COL10A1(NM_000493.3):c.413G>A (p.(Arg138Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763727" "0" "50" "6" "116446506" "116446506" "subst" "0.00382626" "00000" "COL10A1_000015" "g.116446506A>T" "" "{PMID:Duvvari 2016:27007659}" "" "150A>T" "" "Germline" "" "rs142411445" "0" "" "" "g.116125343A>T" "" "VUS" "" "0000851041" "0" "30" "6" "116446506" "116446506" "subst" "0.00382626" "01943" "COL10A1_000015" "g.116446506A>T" "" "" "" "COL10A1(NM_000493.3):c.150T>A (p.S50R, p.(Ser50Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860082" "0" "30" "6" "116441271" "116441271" "subst" "0" "02327" "COL10A1_000017" "g.116441271A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860083" "0" "30" "6" "116441698" "116441698" "subst" "4.07355E-6" "01943" "COL10A1_000018" "g.116441698C>T" "" "" "" "COL10A1(NM_000493.3):c.1581G>A (p.K527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860084" "0" "30" "6" "116446633" "116446633" "subst" "0.000889448" "01804" "COL10A1_000019" "g.116446633A>C" "" "" "" "COL10A1(NM_000493.3):c.23T>G (p.(Leu8Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874697" "0" "70" "6" "116441508" "116441508" "subst" "0" "00000" "COL10A1_000020" "g.116441508A>C" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "COL10A1, NM_000493.3, c.1771T>G,p.Cys591Gly" "heterozygous" "Unknown" "?" "" "0" "" "" "g.116120345A>C" "" "likely pathogenic" "ACMG" "0000887007" "0" "30" "6" "116441698" "116441698" "subst" "4.88826E-5" "01804" "COL10A1_000021" "g.116441698C>G" "" "" "" "COL10A1(NM_000493.3):c.1581G>C (p.(Lys527Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887008" "0" "50" "6" "116442171" "116442171" "subst" "8.13127E-6" "02325" "COL10A1_000022" "g.116442171C>G" "" "" "" "COL10A1(NM_000493.4):c.1108G>C (p.A370P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887009" "0" "30" "6" "116443023" "116443023" "subst" "0.000650005" "01804" "COL10A1_000023" "g.116443023C>T" "" "" "" "COL10A1(NM_000493.3):c.256G>A (p.(Gly86Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912388" "0" "50" "6" "116441501" "116441501" "subst" "0" "02327" "COL10A1_000024" "g.116441501A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912389" "0" "30" "6" "116441718" "116441718" "subst" "2.04863E-5" "01804" "COL10A1_000025" "g.116441718T>A" "" "" "" "COL10A1(NM_000493.3):c.1561A>T (p.(Met521Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912390" "0" "50" "6" "116442132" "116442132" "subst" "0.000552823" "01804" "COL10A1_000026" "g.116442132C>T" "" "" "" "COL10A1(NM_000493.3):c.1147G>A (p.(Gly383Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912391" "0" "50" "6" "116442567" "116442567" "subst" "0" "02327" "COL10A1_000027" "g.116442567C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948617" "0" "70" "6" "116441438" "116441438" "subst" "0" "01804" "COL10A1_000028" "g.116441438A>G" "" "" "" "COL10A1(NM_000493.3):c.1841T>C (p.(Leu614Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948618" "0" "70" "6" "116441438" "116441438" "subst" "0" "02327" "COL10A1_000028" "g.116441438A>G" "" "" "" "COL10A1(NM_000493.3):c.1841T>C (p.(Leu614Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948619" "0" "50" "6" "116446586" "116446586" "subst" "9.34109E-5" "01804" "COL10A1_000029" "g.116446586G>A" "" "" "" "COL10A1(NM_000493.3):c.70C>T (p.(Arg24Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963790" "0" "50" "6" "116442263" "116442263" "subst" "8.97769E-5" "01804" "COL10A1_000030" "g.116442263G>A" "" "" "" "COL10A1(NM_000493.3):c.1016C>T (p.(Pro339Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976936" "0" "50" "6" "116441427" "116441427" "subst" "4.06091E-6" "01804" "COL10A1_000031" "g.116441427C>A" "" "" "" "COL10A1(NM_000493.4):c.1852G>T (p.(Gly618Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976937" "0" "50" "6" "116441615" "116441615" "subst" "0" "01804" "COL10A1_000032" "g.116441615G>A" "" "" "" "COL10A1(NM_000493.4):c.1664C>T (p.(Thr555Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995279" "0" "90" "6" "116441322" "116441322" "subst" "0" "02327" "COL10A1_000033" "g.116441322G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995280" "0" "50" "6" "116441441" "116441441" "subst" "0" "01804" "COL10A1_000034" "g.116441441C>G" "" "" "" "COL10A1(NM_000493.3):c.1838G>C (p.(Gly613Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995281" "0" "50" "6" "116441846" "116441846" "subst" "0" "01804" "COL10A1_000035" "g.116441846G>A" "" "" "" "COL10A1(NM_000493.3):c.1433C>T (p.(Ala478Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995282" "0" "50" "6" "116442512" "116442512" "subst" "0" "01804" "COL10A1_000036" "g.116442512C>T" "" "" "" "COL10A1(NM_000493.3):c.767G>A (p.(Gly256Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995283" "0" "50" "6" "116443109" "116443109" "subst" "8.18887E-6" "01804" "COL10A1_000037" "g.116443109C>T" "" "" "" "COL10A1(NM_000493.3):c.170G>A (p.(Gly57Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995284" "0" "50" "6" "116446654" "116446654" "subst" "2.84349E-5" "01804" "COL10A1_000038" "g.116446654A>G" "" "" "" "COL10A1(NM_000493.3):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025160" "0" "30" "6" "116542298" "116542298" "subst" "1.62668E-5" "02327" "COL10A1_000039" "g.116542298G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035420" "0" "70" "6" "116441662" "116441663" "del" "4.06319E-6" "01804" "COL10A1_000040" "g.116441662_116441663del" "" "" "" "COL10A1(NM_000493.4):c.1616_1617del (p.(Leu539Argfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035421" "0" "30" "6" "116441915" "116441915" "subst" "0.000426895" "01804" "COL10A1_000041" "g.116441915C>A" "" "" "" "COL10A1(NM_000493.4):c.1364G>T (p.(Gly455Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035422" "0" "30" "6" "116443121" "116443121" "subst" "9.05499E-5" "01804" "COL10A1_000042" "g.116443121A>C" "" "" "" "COL10A1(NM_000493.4):c.158T>G (p.(Ile53Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048188" "0" "30" "6" "116441698" "116441698" "subst" "4.88826E-5" "00006" "COL10A1_000021" "g.116441698C>G" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.116120535C>G" "" "likely benign" "" "0001052465" "0" "50" "6" "116442881" "116442881" "subst" "1.2186E-5" "01804" "COL10A1_000043" "g.116442881C>G" "" "" "" "COL10A1(NM_000493.4):c.398G>C (p.(Gly133Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 COL10A1 ## Count = 50 "{{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}}" "0000248849" "00005484" "10" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Met27Thr)" "" "0000266884" "00005484" "10" "2049" "0" "2050" "0" "c.*6_*7insCCC" "r.(=)" "p.(=)" "" "0000300456" "00005484" "30" "15772" "0" "15772" "0" "c.*13729del" "r.(?)" "p.(=)" "" "0000331171" "00005484" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000526924" "00005484" "50" "4219" "0" "4219" "0" "c.*2176C>T" "r.(=)" "p.(=)" "" "0000526926" "00005484" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Pro509Ser)" "" "0000526927" "00005484" "30" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "" "0000526928" "00005484" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Gly350Ser)" "" "0000526929" "00005484" "30" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "" "0000526930" "00005484" "30" "783" "0" "783" "0" "c.783A>C" "r.(?)" "p.(Glu261Asp)" "" "0000526931" "00005484" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258Gln)" "" "0000526932" "00005484" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258Gln)" "" "0000526933" "00005484" "30" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000609950" "00005484" "30" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Pro421Ser)" "" "0000609951" "00005484" "30" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000655472" "00005484" "10" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Met27Thr)" "" "0000689609" "00005484" "50" "1820" "0" "1820" "0" "c.1820G>T" "r.(?)" "p.(Gly607Val)" "" "0000689610" "00005484" "30" "150" "0" "150" "0" "c.150T>A" "r.(?)" "p.(Ser50Arg)" "" "0000720643" "00005484" "30" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000763727" "00005484" "50" "150" "0" "150" "0" "c.150T>A" "r.(?)" "p.(Ser50Arg)" "" "0000851041" "00005484" "30" "150" "0" "150" "0" "c.150T>A" "r.(?)" "p.(Ser50Arg)" "" "0000860082" "00005484" "30" "2008" "0" "2008" "0" "c.2008T>G" "r.(?)" "p.(Ser670Ala)" "" "0000860083" "00005484" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Lys527=)" "" "0000860084" "00005484" "30" "23" "0" "23" "0" "c.23T>G" "r.(?)" "p.(Leu8Trp)" "" "0000874697" "00005484" "70" "1771" "0" "1771" "0" "c.1771T>G" "r.(?)" "p.(Cys591Gly)" "" "0000887007" "00005484" "30" "1581" "0" "1581" "0" "c.1581G>C" "r.(?)" "p.(Lys527Asn)" "" "0000887008" "00005484" "50" "1108" "0" "1108" "0" "c.1108G>C" "r.(?)" "p.(Ala370Pro)" "" "0000887009" "00005484" "30" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Arg)" "" "0000912388" "00005484" "50" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Ile593Thr)" "" "0000912389" "00005484" "30" "1561" "0" "1561" "0" "c.1561A>T" "r.(?)" "p.(Met521Leu)" "" "0000912390" "00005484" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Gly383Arg)" "" "0000912391" "00005484" "50" "712" "0" "712" "0" "c.712G>C" "r.(?)" "p.(Gly238Arg)" "" "0000948617" "00005484" "70" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Leu614Pro)" "" "0000948618" "00005484" "70" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Leu614Pro)" "" "0000948619" "00005484" "50" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24*)" "" "0000963790" "00005484" "50" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Pro339Leu)" "" "0000976936" "00005484" "50" "1852" "0" "1852" "0" "c.1852G>T" "r.(?)" "p.(Gly618Cys)" "" "0000976937" "00005484" "50" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Ile)" "" "0000995279" "00005484" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Gln653*)" "" "0000995280" "00005484" "50" "1838" "0" "1838" "0" "c.1838G>C" "r.(?)" "p.(Gly613Ala)" "" "0000995281" "00005484" "50" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Ala478Val)" "" "0000995282" "00005484" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Gly256Glu)" "" "0000995283" "00005484" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Gly57Glu)" "" "0000995284" "00005484" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001025160" "00005484" "30" "-95098" "0" "-95098" "0" "c.-95098C>T" "r.(?)" "p.(=)" "" "0001035420" "00005484" "70" "1616" "0" "1617" "0" "c.1616_1617del" "r.(?)" "p.(Leu539Argfs*2)" "" "0001035421" "00005484" "30" "1364" "0" "1364" "0" "c.1364G>T" "r.(?)" "p.(Gly455Val)" "" "0001035422" "00005484" "30" "158" "0" "158" "0" "c.158T>G" "r.(?)" "p.(Ile53Arg)" "" "0001048188" "00005484" "30" "1581" "0" "1581" "0" "c.1581G>C" "r.(?)" "p.(Lys527Asn)" "" "0001052465" "00005484" "50" "398" "0" "398" "0" "c.398G>C" "r.(?)" "p.(Gly133Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000363229" "0000763727" "0000416569" "0000874697" "0000468366" "0001048188"