### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAMTS10) # 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}}" "ADAMTS10" "ADAM metallopeptidase with thrombospondin type 1 motif, 10" "19" "p13.3" "unknown" "NG_011840.2" "UD_132118401812" "" "https://www.LOVD.nl/ADAMTS10" "" "1" "13201" "81794" "608990" "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/ADAMTS10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2020-11-11 15:00:04" "00000" "2025-05-05 21:14:00" ## 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}}" "00002098" "ADAMTS10" "ADAM metallopeptidase with thrombospondin type 1 motif, 10" "001" "NM_030957.2" "" "NP_112219.2" "" "" "" "-274" "3963" "3312" "8675588" "8645126" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00744" "WMS1" "Weill-Marchesani syndrome, type 1, recessive (WMS-1)" "AR" "277600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03280" "WMS4" "Weill-Marchesani 4 syndrome, recessive" "AR" "613195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ADAMTS10" "00139" "ADAMTS10" "00744" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00088064" "" "" "" "1" "" "01812" "" "" "F" "yes" "Turkey" "" "0" "" "" "kurd" "" "00088065" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "" "00088066" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "" "00088067" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "" "00088141" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088142" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088143" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088144" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088145" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088146" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088147" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088148" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00088149" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00292221" "" "" "" "2" "" "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 = 6 "{{individualid}}" "{{diseaseid}}" "00088064" "03280" "00088065" "03280" "00088066" "04214" "00088066" "04267" "00088067" "03280" "00292221" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00744, 03280, 04214, 04267 ## Count = 4 "{{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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000066793" "04267" "00088066" "01164" "Unknown" "" "Glaucoma; retinitis pigmentosa; myopie, fuchs-corneal-dystrophy" "34y" "" "" "" "" "" "" "" "" "" "" "0000067571" "03280" "00088064" "01812" "Familial, autosomal recessive" "" "Proportionate short stature, brachydactyly, joint stiffness and microspherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000067572" "03280" "00088065" "01164" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067573" "03280" "00088067" "01164" "Unknown" "" "Complex eyemalformation, congential cataract, congenital keratektasie, megalocornea, congenital heart defect, microsomia" "3y" "1y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000088204" "00088064" "1" "01812" "01812" "2014-10-07 15:31:19" "" "" "SEQ" "DNA" "" "" "0000088205" "00088065" "1" "01164" "01164" "2014-10-13 11:36:29" "" "" "SEQ" "DNA" "" "" "0000088206" "00088066" "1" "01164" "01164" "2014-10-13 12:09:00" "" "" "SEQ" "DNA" "" "" "0000088207" "00088067" "1" "01164" "01164" "2014-10-13 13:54:24" "" "" "SEQ" "DNA" "" "" "0000088281" "00088141" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088282" "00088142" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088283" "00088143" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088284" "00088144" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088285" "00088145" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088286" "00088146" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088287" "00088147" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088288" "00088148" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000088289" "00088149" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000293389" "00292221" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000088204" "ADAMTS10" "0000088205" "ADAMTS10" "0000088206" "ADAMTS10" "0000088207" "ADAMTS10" "0000088281" "ADAMTS10" "0000088282" "ADAMTS10" "0000088283" "ADAMTS10" "0000088284" "ADAMTS10" "0000088285" "ADAMTS10" "0000088286" "ADAMTS10" "0000088287" "ADAMTS10" "0000088288" "ADAMTS10" "0000088289" "ADAMTS10" ## 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 = 97 "{{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}}" "0000140580" "0" "11" "19" "8673114" "8673114" "subst" "0" "01164" "ADAMTS10_000003" "g.8673114T>C" "9" "" "" "" "Global MAF: C=0.0092/20" "Germline" "" "rs4530289" "0" "" "" "g.8608232T>C" "" "benign" "" "0000140581" "3" "95" "19" "8670555" "8670555" "subst" "0" "01812" "ADAMTS10_000001" "g.8670555A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8605670A>T" "" "pathogenic" "" "0000140582" "0" "11" "19" "8670147" "8670147" "subst" "0.0312025" "01164" "ADAMTS10_000006" "g.8670147C>T" "MAF T=0.0257/56" "" "" "" "homozygous in controls" "Unknown" "" "rs62621197" "0" "" "" "g.8605262C>T" "" "benign" "" "0000140583" "0" "11" "19" "8669931" "8669931" "subst" "0.79069" "01164" "ADAMTS10_000002" "g.8669931G>C" "MAF/MinorAlleleCount:\tG=0.148/322" "" "" "" "" "Germline" "" "" "0" "" "" "g.8605046=" "" "benign" "" "0000140584" "0" "11" "19" "8669931" "8669931" "subst" "0.79069" "01164" "ADAMTS10_000004" "g.8669931G>C" "Global MAF G=0.1478/321" "" "" "" "" "Unknown" "" "rs7255721" "0" "" "" "g.8605046=" "" "benign" "" "0000140585" "0" "11" "19" "8669873" "8669873" "subst" "0.779125" "01164" "ADAMTS10_000005" "g.8669873T>C" "Global MAF T=0.1786/388" "" "" "" "" "Unknown" "" "rs7260282" "0" "" "" "g.8604988=" "" "benign" "" "0000140586" "0" "11" "19" "8669867" "8669867" "subst" "0.0700764" "01164" "ADAMTS10_000007" "g.8669867T>G" "MAF G=0.0634/138" "" "" "" "homozygous in controls" "Unknown" "" "rs11670030" "0" "" "" "g.8604982T>G" "" "benign" "" "0000140587" "3" "11" "19" "8651562" "8651562" "subst" "0.213436" "01164" "ADAMTS10_000009" "g.8651562A>G" "MAF G=0.1915/416" "" "" "" "" "Unknown" "" "rs4476282" "0" "" "" "g.8586678A>G" "" "benign" "" "0000141613" "1" "10" "19" "8670147" "8670147" "subst" "0.0312025" "01164" "ADAMTS10_000006" "g.8670147C>T" "" "" "" "" "also homozygous in controlls" "Germline" "" "rs62621197" "0" "" "" "g.8605262C>T" "" "benign" "" "0000141614" "1" "10" "19" "8673114" "8673114" "subst" "0" "01164" "ADAMTS10_000003" "g.8673114T>C" "" "" "" "" "" "Germline" "" "rs4530289" "0" "" "" "g.8608232T>C" "" "benign" "" "0000141615" "1" "10" "19" "8654106" "8654106" "subst" "0.099142" "01164" "ADAMTS10_000012" "g.8654106G>A" "" "" "" "" "" "Germline" "" "rs73501572" "0" "" "" "g.8589222G>A" "" "benign" "" "0000141616" "1" "10" "19" "8651562" "8651562" "subst" "0.213436" "01164" "ADAMTS10_000009" "g.8651562A>G" "" "" "" "" "" "Germline" "" "rs4476282" "0" "" "" "g.8586678A>G" "" "benign" "" "0000141617" "1" "50" "19" "8649945" "8649951" "dup" "0" "01164" "ADAMTS10_000011" "g.8649945_8649951dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8585061_8585067dup" "" "VUS" "" "0000141618" "1" "10" "19" "8645786" "8645786" "subst" "0.999877" "01164" "ADAMTS10_000010" "g.8645786A>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs7252299" "0" "" "" "" "" "benign" "" "0000141619" "1" "10" "19" "8669931" "8669931" "subst" "0.79069" "01164" "ADAMTS10_000002" "g.8669931G>C" "" "" "" "" "" "Germline" "" "rs7255721" "0" "" "" "g.8605046=" "" "benign" "" "0000141620" "1" "10" "19" "8669873" "8669873" "subst" "0.779125" "01164" "ADAMTS10_000005" "g.8669873T>C" "" "" "" "" "" "Germline" "" "rs7260282" "0" "" "" "g.8604988=" "" "benign" "" "0000141621" "1" "10" "19" "8669867" "8669867" "subst" "0.0700764" "01164" "ADAMTS10_000007" "g.8669867T>G" "Frequency up to 10%" "" "" "" "" "Germline" "" "rs11670030" "0" "" "" "g.8604982T>G" "" "benign" "" "0000248317" "0" "10" "19" "8645786" "8645786" "subst" "0.999877" "02325" "ADAMTS10_000010" "g.8645786A>C" "" "" "" "ADAMTS10(NM_030957.3):c.3303T>G (p.H1101Q), ADAMTS10(NM_030957.4):c.3303T>G (p.H1101Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8580902A>C" "" "benign" "" "0000250052" "0" "10" "19" "8645786" "8645786" "subst" "0.999877" "02329" "ADAMTS10_000010" "g.8645786A>C" "" "" "" "ADAMTS10(NM_030957.3):c.3303T>G (p.H1101Q), ADAMTS10(NM_030957.4):c.3303T>G (p.H1101Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8580902A>C" "" "benign" "" "0000250133" "0" "10" "19" "8651562" "8651562" "subst" "0.213436" "02329" "ADAMTS10_000009" "g.8651562A>G" "" "" "" "ADAMTS10(NM_030957.2):c.2283T>C (p.P761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8586678A>G" "" "benign" "" "0000258925" "0" "10" "19" "8669931" "8669931" "subst" "0.79069" "02325" "ADAMTS10_000002" "g.8669931G>C" "" "" "" "ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8605046=" "" "benign" "" "0000259937" "0" "10" "19" "8656994" "8656994" "subst" "0.00657563" "02329" "ADAMTS10_000018" "g.8656994G>C" "" "" "" "ADAMTS10(NM_001282352.1):c.53C>G (p.(Pro18Arg)), ADAMTS10(NM_030957.4):c.1588-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8592110G>C" "" "benign" "" "0000259938" "0" "10" "19" "8670147" "8670147" "subst" "0.0312025" "02329" "ADAMTS10_000006" "g.8670147C>T" "" "" "" "ADAMTS10(NM_030957.2):c.185G>A (p.(Arg62Gln), p.R62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8605262C>T" "" "benign" "" "0000259939" "0" "10" "19" "8654106" "8654106" "subst" "0.099142" "02329" "ADAMTS10_000012" "g.8654106G>A" "" "" "" "ADAMTS10(NM_030957.4):c.2158+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8589222G>A" "" "benign" "" "0000259942" "0" "30" "19" "8669981" "8669981" "subst" "0.000352408" "02329" "ADAMTS10_000021" "g.8669981C>T" "" "" "" "ADAMTS10(NM_030957.4):c.351G>A (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8605096C>T" "" "likely benign" "" "0000259943" "0" "10" "19" "8669931" "8669931" "subst" "0.79069" "02329" "ADAMTS10_000002" "g.8669931G>C" "" "" "" "ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8605046=" "" "benign" "" "0000259944" "0" "30" "19" "8668721" "8668721" "subst" "0.000849207" "02329" "ADAMTS10_000020" "g.8668721C>T" "" "" "" "ADAMTS10(NM_030957.3):c.483G>A (p.L161=), ADAMTS10(NM_030957.4):c.483G>A (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8603837C>T" "" "likely benign" "" "0000326130" "0" "30" "19" "8649865" "8649865" "subst" "7.60468E-6" "01804" "ADAMTS10_000013" "g.8649865T>G" "" "" "" "ADAMTS10(NM_030957.2):c.3116A>C (p.(His1039Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8584981T>G" "" "likely benign" "" "0000326132" "0" "50" "19" "8656729" "8656729" "subst" "0" "01804" "ADAMTS10_000017" "g.8656729C>G" "" "" "" "ADAMTS10(NM_030957.2):c.1752G>C (p.(Lys584Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8591845C>G" "" "VUS" "" "0000326133" "0" "30" "19" "8668698" "8668698" "subst" "0.000398028" "01804" "ADAMTS10_000019" "g.8668698C>T" "" "" "" "ADAMTS10(NM_030957.2):c.506G>A (p.(Arg169Gln)), ADAMTS10(NM_030957.3):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8603814C>T" "" "likely benign" "" "0000340933" "0" "10" "19" "8651562" "8651562" "subst" "0.213436" "02327" "ADAMTS10_000009" "g.8651562A>G" "" "" "" "ADAMTS10(NM_030957.2):c.2283T>C (p.P761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8586678A>G" "" "benign" "" "0000349275" "0" "10" "19" "8669931" "8669931" "subst" "0.79069" "02327" "ADAMTS10_000002" "g.8669931G>C" "" "" "" "ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8605046=" "" "benign" "" "0000568909" "0" "50" "19" "8645880" "8645880" "subst" "0" "01943" "ADAMTS10_000023" "g.8645880T>C" "" "" "" "ADAMTS10(NM_030957.3):c.3209A>G (p.K1070R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8580996T>C" "" "VUS" "" "0000568911" "0" "10" "19" "8649945" "8649951" "dup" "0" "02329" "ADAMTS10_000011" "g.8649945_8649951dup" "" "" "" "ADAMTS10(NM_030957.2):c.3043-6_3043-5insGCCCCCT (p.?), ADAMTS10(NM_030957.4):c.3043-6_3043-5insGCCCCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585061_8585067dup" "" "benign" "" "0000568912" "0" "50" "19" "8650047" "8650047" "subst" "0" "01804" "ADAMTS10_000025" "g.8650047G>A" "" "" "" "ADAMTS10(NM_030957.2):c.3011C>T (p.(Pro1004Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585163G>A" "" "VUS" "" "0000568913" "0" "50" "19" "8650150" "8650150" "subst" "0" "01804" "ADAMTS10_000026" "g.8650150G>A" "" "" "" "ADAMTS10(NM_030957.2):c.2908C>T (p.(Leu970Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585266G>A" "" "VUS" "" "0000568914" "0" "50" "19" "8650472" "8650472" "subst" "0" "01804" "ADAMTS10_000027" "g.8650472G>C" "" "" "" "ADAMTS10(NM_030957.2):c.2733C>G (p.(Cys911Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585588G>C" "" "VUS" "" "0000568915" "0" "50" "19" "8650491" "8650491" "subst" "0" "01804" "ADAMTS10_000028" "g.8650491C>T" "" "" "" "ADAMTS10(NM_030957.2):c.2714G>A (p.(Arg905His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585607C>T" "" "VUS" "" "0000568916" "0" "30" "19" "8651082" "8651082" "subst" "0.00876811" "01804" "ADAMTS10_000029" "g.8651082C>A" "" "" "" "ADAMTS10(NM_030957.2):c.2584G>T (p.(Ala862Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586198C>A" "" "likely benign" "" "0000568917" "0" "90" "19" "8651308" "8651308" "dup" "0" "02329" "ADAMTS10_000016" "g.8651308dup" "" "" "" "ADAMTS10(NM_030957.4):c.2454dupC (p.I819Hfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586424dup" "" "pathogenic" "" "0000568918" "0" "30" "19" "8651335" "8651335" "subst" "0.00720047" "01804" "ADAMTS10_000030" "g.8651335A>C" "" "" "" "ADAMTS10(NM_030957.2):c.2423T>G (p.(Leu808Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586451A>C" "" "likely benign" "" "0000568920" "0" "30" "19" "8651438" "8651438" "subst" "0.00551257" "01943" "ADAMTS10_000031" "g.8651438T>C" "" "" "" "ADAMTS10(NM_001282352.1):c.864+4A>G (p.?), ADAMTS10(NM_030957.3):c.2403+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586554T>C" "" "likely benign" "" "0000568921" "0" "30" "19" "8651438" "8651438" "subst" "0.00551257" "01804" "ADAMTS10_000031" "g.8651438T>C" "" "" "" "ADAMTS10(NM_001282352.1):c.864+4A>G (p.?), ADAMTS10(NM_030957.3):c.2403+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586554T>C" "" "likely benign" "" "0000568922" "0" "50" "19" "8651480" "8651480" "subst" "0" "02325" "ADAMTS10_000032" "g.8651480C>T" "" "" "" "ADAMTS10(NM_030957.4):c.2365G>A (p.E789K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586596C>T" "" "VUS" "" "0000568924" "0" "50" "19" "8651766" "8651766" "subst" "1.62425E-5" "02325" "ADAMTS10_000034" "g.8651766C>T" "" "" "" "ADAMTS10(NM_030957.4):c.2173G>A (p.V725I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586882C>T" "" "VUS" "" "0000568925" "0" "30" "19" "8654127" "8654127" "subst" "0.00436406" "01804" "ADAMTS10_000035" "g.8654127G>C" "" "" "" "ADAMTS10(NM_001282352.1):c.618C>G (p.(Ala206=)), ADAMTS10(NM_030957.3):c.2157C>G (p.A719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589243G>C" "" "likely benign" "" "0000568926" "0" "30" "19" "8654143" "8654143" "subst" "4.10799E-6" "01804" "ADAMTS10_000036" "g.8654143G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.602C>T (p.(Pro201Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589259G>A" "" "likely benign" "" "0000568927" "0" "30" "19" "8654881" "8654881" "subst" "0.00129874" "01804" "ADAMTS10_000037" "g.8654881G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.270-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589997G>A" "" "likely benign" "" "0000568928" "0" "30" "19" "8656994" "8656994" "subst" "0.00657563" "01804" "ADAMTS10_000018" "g.8656994G>C" "" "" "" "ADAMTS10(NM_001282352.1):c.53C>G (p.(Pro18Arg)), ADAMTS10(NM_030957.4):c.1588-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8592110G>C" "" "likely benign" "" "0000568929" "0" "50" "19" "8665906" "8665906" "subst" "0.000597294" "01943" "ADAMTS10_000038" "g.8665906C>T" "" "" "" "ADAMTS10(NM_030957.3):c.716G>A (p.R239H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8601022C>T" "" "VUS" "" "0000568930" "0" "30" "19" "8668698" "8668698" "subst" "0.000398028" "01943" "ADAMTS10_000019" "g.8668698C>T" "" "" "" "ADAMTS10(NM_030957.2):c.506G>A (p.(Arg169Gln)), ADAMTS10(NM_030957.3):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8603814C>T" "" "likely benign" "" "0000568931" "0" "30" "19" "8669924" "8669924" "subst" "0" "01943" "ADAMTS10_000039" "g.8669924A>G" "" "" "" "ADAMTS10(NM_030957.3):c.408T>C (p.H136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605039A>G" "" "likely benign" "" "0000568932" "0" "50" "19" "8670028" "8670028" "subst" "6.55077E-5" "01943" "ADAMTS10_000040" "g.8670028C>T" "" "" "" "ADAMTS10(NM_030957.3):c.304G>A (p.V102I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605143C>T" "" "VUS" "" "0000568933" "0" "50" "19" "8670055" "8670055" "subst" "1.22589E-5" "01804" "ADAMTS10_000041" "g.8670055G>A" "" "" "" "ADAMTS10(NM_030957.2):c.277C>T (p.(Arg93Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605170G>A" "" "VUS" "" "0000568934" "0" "30" "19" "8670115" "8670115" "subst" "0.00393551" "01804" "ADAMTS10_000042" "g.8670115C>T" "" "" "" "ADAMTS10(NM_030957.2):c.217G>A (p.(Glu73Lys)), ADAMTS10(NM_030957.4):c.217G>A (p.E73K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605230C>T" "" "likely benign" "" "0000568935" "0" "10" "19" "8670115" "8670115" "subst" "0.00393551" "02329" "ADAMTS10_000042" "g.8670115C>T" "" "" "" "ADAMTS10(NM_030957.2):c.217G>A (p.(Glu73Lys)), ADAMTS10(NM_030957.4):c.217G>A (p.E73K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605230C>T" "" "benign" "" "0000568936" "0" "30" "19" "8670147" "8670147" "subst" "0.0312025" "01804" "ADAMTS10_000006" "g.8670147C>T" "" "" "" "ADAMTS10(NM_030957.2):c.185G>A (p.(Arg62Gln), p.R62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605262C>T" "" "likely benign" "" "0000568937" "0" "30" "19" "8670243" "8670243" "subst" "0" "01943" "ADAMTS10_000043" "g.8670243T>C" "" "" "" "ADAMTS10(NM_030957.3):c.89A>G (p.D30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605358T>C" "" "likely benign" "" "0000568938" "0" "30" "19" "8670527" "8670527" "subst" "0.000119789" "01943" "ADAMTS10_000044" "g.8670527C>T" "" "" "" "ADAMTS10(NM_030957.3):c.69G>A (p.T23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605642C>T" "" "likely benign" "" "0000617959" "0" "30" "19" "8649945" "8649951" "dup" "0" "01804" "ADAMTS10_000011" "g.8649945_8649951dup" "" "" "" "ADAMTS10(NM_030957.2):c.3043-6_3043-5insGCCCCCT (p.?), ADAMTS10(NM_030957.4):c.3043-6_3043-5insGCCCCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585061_8585067dup" "" "likely benign" "" "0000617960" "0" "50" "19" "8651536" "8651536" "subst" "4.06385E-6" "01943" "ADAMTS10_000046" "g.8651536G>C" "" "" "" "ADAMTS10(NM_030957.3):c.2309C>G (p.P770R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586652G>C" "" "VUS" "" "0000617961" "0" "30" "19" "8654127" "8654127" "subst" "0.00436406" "01943" "ADAMTS10_000035" "g.8654127G>C" "" "" "" "ADAMTS10(NM_001282352.1):c.618C>G (p.(Ala206=)), ADAMTS10(NM_030957.3):c.2157C>G (p.A719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589243G>C" "" "likely benign" "" "0000617962" "0" "30" "19" "8668766" "8668766" "subst" "0.000139667" "01943" "ADAMTS10_000050" "g.8668766G>A" "" "" "" "ADAMTS10(NM_030957.3):c.438C>T (p.H146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8603882G>A" "" "likely benign" "" "0000624110" "0" "50" "19" "8651745" "8651745" "subst" "1.21817E-5" "01943" "ADAMTS10_000047" "g.8651745C>T" "" "" "" "ADAMTS10(NM_030957.3):c.2194G>A (p.V732I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8586861C>T" "" "VUS" "" "0000624111" "0" "50" "19" "8654445" "8654445" "subst" "0.000191665" "01943" "ADAMTS10_000048" "g.8654445G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.386C>T (p.(Thr129Met)), ADAMTS10(NM_030957.3):c.1925C>T (p.T642M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589561G>A" "" "VUS" "" "0000624112" "0" "30" "19" "8656880" "8656880" "subst" "0" "01943" "ADAMTS10_000049" "g.8656880G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8591996G>A" "" "likely benign" "" "0000624113" "0" "30" "19" "8668721" "8668721" "subst" "0.000849207" "01943" "ADAMTS10_000020" "g.8668721C>T" "" "" "" "ADAMTS10(NM_030957.3):c.483G>A (p.L161=), ADAMTS10(NM_030957.4):c.483G>A (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8603837C>T" "" "likely benign" "" "0000624114" "0" "30" "19" "8670200" "8670200" "subst" "8.59107E-6" "01943" "ADAMTS10_000051" "g.8670200G>A" "" "" "" "ADAMTS10(NM_030957.3):c.132C>T (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605315G>A" "" "likely benign" "" "0000650078" "1" "30" "19" "8651335" "8651335" "subst" "0.00720047" "03575" "ADAMTS10_000030" "g.8651335A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs10420313}" "Germline" "" "rs10420313" "0" "" "" "g.8586451A>C" "" "likely benign" "" "0000658703" "0" "50" "19" "8654376" "8654376" "subst" "0.000109835" "01943" "ADAMTS10_000052" "g.8654376C>T" "" "" "" "ADAMTS10(NM_030957.3):c.1994G>A (p.R665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8589492C>T" "" "VUS" "" "0000681549" "0" "30" "19" "8657640" "8657640" "subst" "8.65209E-6" "01943" "ADAMTS10_000053" "g.8657640C>T" "" "" "" "ADAMTS10(NM_030957.3):c.1587+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692924" "0" "50" "19" "8650395" "8650395" "subst" "2.0273E-5" "01804" "ADAMTS10_000054" "g.8650395T>C" "" "" "" "ADAMTS10(NM_030957.2):c.2810A>G (p.(Glu937Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692925" "0" "30" "19" "8651349" "8651349" "subst" "0.000355117" "01943" "ADAMTS10_000055" "g.8651349C>G" "" "" "" "ADAMTS10(NM_030957.3):c.2409G>C (p.L803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692926" "0" "30" "19" "8670572" "8670572" "subst" "0" "01943" "ADAMTS10_000056" "g.8670572G>A" "" "" "" "ADAMTS10(NM_030957.3):c.24C>T (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727586" "0" "70" "19" "8649929" "8649929" "subst" "0" "01804" "ADAMTS10_000057" "g.8649929G>A" "" "" "" "ADAMTS10(NM_030957.2):c.3052C>T (p.(Gln1018*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727587" "0" "50" "19" "8660729" "8660729" "subst" "4.06068E-6" "01943" "ADAMTS10_000058" "g.8660729T>C" "" "" "" "ADAMTS10(NM_030957.3):c.1396A>G (p.T466A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727588" "0" "50" "19" "8665924" "8665924" "subst" "4.06352E-6" "01943" "ADAMTS10_000059" "g.8665924C>T" "" "" "" "ADAMTS10(NM_030957.3):c.698G>A (p.R233Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809124" "0" "50" "19" "8661279" "8661279" "subst" "0" "01943" "ADAMTS10_000060" "g.8661279C>T" "" "" "" "ADAMTS10(NM_030957.3):c.1102G>A (p.G368R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809125" "0" "50" "19" "8668686" "8668686" "subst" "8.12282E-6" "01943" "ADAMTS10_000061" "g.8668686T>C" "" "" "" "ADAMTS10(NM_030957.3):c.518A>G (p.E173G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809126" "0" "30" "19" "8669982" "8669982" "subst" "0.000281961" "01804" "ADAMTS10_000062" "g.8669982G>A" "" "" "" "ADAMTS10(NM_030957.2):c.350C>T (p.(Ala117Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809127" "0" "30" "19" "8670133" "8670133" "subst" "5.43419E-5" "01943" "ADAMTS10_000063" "g.8670133C>T" "" "" "" "ADAMTS10(NM_030957.3):c.199G>A (p.G67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809128" "0" "50" "19" "8670528" "8670528" "subst" "0.000148651" "01943" "ADAMTS10_000064" "g.8670528G>A" "" "" "" "ADAMTS10(NM_030957.2):c.68C>T (p.(Thr23Met)), ADAMTS10(NM_030957.3):c.68C>T (p.T23M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855743" "0" "30" "19" "8651475" "8651475" "subst" "8.12612E-5" "01943" "ADAMTS10_000066" "g.8651475G>A" "" "" "" "ADAMTS10(NM_030957.3):c.2370C>T (p.A790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855744" "0" "50" "19" "8670517" "8670517" "subst" "1.65246E-5" "01943" "ADAMTS10_000068" "g.8670517G>A" "" "" "" "ADAMTS10(NM_030957.3):c.79C>T (p.R27W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855745" "0" "50" "19" "8670700" "8670701" "del" "0" "01943" "ADAMTS10_000069" "g.8670700_8670701del" "" "" "" "ADAMTS10(NM_030957.3):c.-99-6_-99-5delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866368" "0" "30" "19" "8649788" "8649788" "subst" "0.00104987" "01804" "ADAMTS10_000065" "g.8649788C>T" "" "" "" "ADAMTS10(NM_001282352.1):c.1654G>A (p.(Gly552Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866369" "0" "50" "19" "8654383" "8654383" "subst" "1.22044E-5" "01804" "ADAMTS10_000067" "g.8654383G>T" "" "" "" "ADAMTS10(NM_030957.2):c.1987C>A (p.(Pro663Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895204" "0" "50" "19" "8670207" "8670207" "subst" "0" "01804" "ADAMTS10_000070" "g.8670207G>T" "" "" "" "ADAMTS10(NM_030957.2):c.125C>A (p.(Ala42Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895205" "0" "50" "19" "8670207" "8670207" "subst" "0" "02327" "ADAMTS10_000070" "g.8670207G>T" "" "" "" "ADAMTS10(NM_030957.2):c.125C>A (p.(Ala42Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915334" "0" "70" "19" "8651584" "8651585" "ins" "0" "01804" "ADAMTS10_000071" "g.8651584_8651585insCA" "" "" "" "ADAMTS10(NM_030957.2):c.2260_2261insTG (p.(Ser754Leufs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926965" "0" "30" "19" "8670528" "8670528" "subst" "0.000148651" "01804" "ADAMTS10_000064" "g.8670528G>A" "" "" "" "ADAMTS10(NM_030957.2):c.68C>T (p.(Thr23Met)), ADAMTS10(NM_030957.3):c.68C>T (p.T23M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951386" "0" "30" "19" "8650552" "8650552" "subst" "0.000391718" "01804" "ADAMTS10_000072" "g.8650552A>C" "" "" "" "ADAMTS10(NM_030957.2):c.2661-8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951387" "0" "30" "19" "8654374" "8654374" "subst" "0" "01804" "ADAMTS10_000073" "g.8654374G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.457C>T (p.(Pro153Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951388" "0" "50" "19" "8654445" "8654445" "subst" "0.000191665" "01804" "ADAMTS10_000048" "g.8654445G>A" "" "" "" "ADAMTS10(NM_001282352.1):c.386C>T (p.(Thr129Met)), ADAMTS10(NM_030957.3):c.1925C>T (p.T642M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983715" "0" "50" "19" "8650546" "8650546" "subst" "0" "01804" "ADAMTS10_000074" "g.8650546T>G" "" "" "" "ADAMTS10(NM_030957.4):c.2661-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015847" "0" "30" "19" "8651343" "8651343" "subst" "7.3473E-5" "02329" "ADAMTS10_000075" "g.8651343C>T" "" "" "" "ADAMTS10(NM_030957.4):c.2415G>A (p.R805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043240" "0" "50" "19" "8650425" "8650463" "dup" "0" "01804" "ADAMTS10_000076" "g.8650425_8650463dup" "" "" "" "ADAMTS10(NM_030957.4):c.2742_2780dup (p.(Val915_Ala927dup))" "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 ADAMTS10 ## Count = 97 "{{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}}" "0000140580" "00002098" "11" "-198" "0" "-198" "0" "c.-198A>G" "r.(=)" "p.(=)" "3" "0000140581" "00002098" "95" "41" "0" "41" "0" "c.41T>A" "r.(?)" "p.(Leu14Gln)" "5" "0000140582" "00002098" "11" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62Gln)" "6" "0000140583" "00002098" "11" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Thr134Ser)" "8" "0000140584" "00002098" "11" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Thr134Ser)" "8" "0000140585" "00002098" "11" "435" "24" "435" "24" "c.435+24A>G" "r.(?)" "p.(=)" "8i" "0000140586" "00002098" "11" "435" "30" "435" "30" "c.435+30A>C" "r.(?)" "p.(=)" "8i" "0000140587" "00002098" "11" "2283" "0" "2283" "0" "c.2283T>C" "r.(?)" "p.(=)" "21" "0000141613" "00002098" "10" "185" "0" "185" "0" "c.185G>A" "r.(=)" "p.(Arg62Gln)" "" "0000141614" "00002098" "10" "-198" "0" "-198" "0" "c.-198A>G" "r.(=)" "p.(=)" "" "0000141615" "00002098" "10" "2158" "20" "2158" "20" "c.2158+20C>T" "r.(=)" "p.(=)" "" "0000141616" "00002098" "10" "2283" "0" "2283" "0" "c.2283T>C" "r.(=)" "p.(=)" "" "0000141617" "00002098" "50" "3043" "-12" "3043" "-6" "c.3043-12_3043-6dup" "r.(=)" "p.(=)" "" "0000141618" "00002098" "10" "3303" "0" "3303" "0" "c.3303T>G" "r.(=)" "p.(His1101Gln)" "" "0000141619" "00002098" "10" "401" "0" "401" "0" "c.401C>G" "r.(=)" "p.(Thr134Ser)" "" "0000141620" "00002098" "10" "435" "24" "435" "24" "c.435+24A>G" "r.(=)" "p.(=)" "" "0000141621" "00002098" "10" "435" "30" "435" "30" "c.435+30A>C" "r.(=)" "p.(=)" "" "0000248317" "00002098" "10" "3303" "0" "3303" "0" "c.3303=" "r.(=)" "p.(Gln1101=)" "" "0000250052" "00002098" "10" "3303" "0" "3303" "0" "c.3303=" "r.(=)" "p.(Gln1101=)" "" "0000250133" "00002098" "10" "2283" "0" "2283" "0" "c.2283T>C" "r.(?)" "p.(Pro761=)" "" "0000258925" "00002098" "10" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Thr134Ser)" "" "0000259937" "00002098" "10" "1588" "-7" "1588" "-7" "c.1588-7C>G" "r.(=)" "p.(=)" "" "0000259938" "00002098" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62Gln)" "" "0000259939" "00002098" "10" "2158" "20" "2158" "20" "c.2158+20C>T" "r.(=)" "p.(=)" "" "0000259942" "00002098" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Ala117=)" "" "0000259943" "00002098" "10" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Thr134Ser)" "" "0000259944" "00002098" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Leu161=)" "" "0000326130" "00002098" "30" "3116" "0" "3116" "0" "c.3116A>C" "r.(?)" "p.(His1039Pro)" "" "0000326132" "00002098" "50" "1752" "0" "1752" "0" "c.1752G>C" "r.(?)" "p.(Lys584Asn)" "" "0000326133" "00002098" "30" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000340933" "00002098" "10" "2283" "0" "2283" "0" "c.2283T>C" "r.(?)" "p.(Pro761=)" "" "0000349275" "00002098" "10" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Thr134Ser)" "" "0000568909" "00002098" "50" "3209" "0" "3209" "0" "c.3209A>G" "r.(?)" "p.(Lys1070Arg)" "" "0000568911" "00002098" "10" "3043" "-12" "3043" "-6" "c.3043-12_3043-6dup" "r.(=)" "p.(=)" "" "0000568912" "00002098" "50" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "" "0000568913" "00002098" "50" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Leu970Phe)" "" "0000568914" "00002098" "50" "2733" "0" "2733" "0" "c.2733C>G" "r.(?)" "p.(Cys911Trp)" "" "0000568915" "00002098" "50" "2714" "0" "2714" "0" "c.2714G>A" "r.(?)" "p.(Arg905His)" "" "0000568916" "00002098" "30" "2584" "0" "2584" "0" "c.2584G>T" "r.(?)" "p.(Ala862Ser)" "" "0000568917" "00002098" "90" "2454" "0" "2454" "0" "c.2454dup" "r.(?)" "p.(Ile819HisfsTer4)" "" "0000568918" "00002098" "30" "2423" "0" "2423" "0" "c.2423T>G" "r.(?)" "p.(Leu808Arg)" "" "0000568920" "00002098" "30" "2403" "4" "2403" "4" "c.2403+4A>G" "r.spl?" "p.?" "" "0000568921" "00002098" "30" "2403" "4" "2403" "4" "c.2403+4A>G" "r.spl?" "p.?" "" "0000568922" "00002098" "50" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Glu789Lys)" "" "0000568924" "00002098" "50" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Val725Ile)" "" "0000568925" "00002098" "30" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Ala719=)" "" "0000568926" "00002098" "30" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Pro714Leu)" "" "0000568927" "00002098" "30" "1798" "-6" "1798" "-6" "c.1798-6C>T" "r.(=)" "p.(=)" "" "0000568928" "00002098" "30" "1588" "-7" "1588" "-7" "c.1588-7C>G" "r.(=)" "p.(=)" "" "0000568929" "00002098" "50" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239His)" "" "0000568930" "00002098" "30" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000568931" "00002098" "30" "408" "0" "408" "0" "c.408T>C" "r.(?)" "p.(His136=)" "" "0000568932" "00002098" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0000568933" "00002098" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "" "0000568934" "00002098" "30" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0000568935" "00002098" "10" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0000568936" "00002098" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62Gln)" "" "0000568937" "00002098" "30" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Asp30Gly)" "" "0000568938" "00002098" "30" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Thr23=)" "" "0000617959" "00002098" "30" "3043" "-12" "3043" "-6" "c.3043-12_3043-6dup" "r.(=)" "p.(=)" "" "0000617960" "00002098" "50" "2309" "0" "2309" "0" "c.2309C>G" "r.(?)" "p.(Pro770Arg)" "" "0000617961" "00002098" "30" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Ala719=)" "" "0000617962" "00002098" "30" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(His146=)" "" "0000624110" "00002098" "50" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Val732Ile)" "" "0000624111" "00002098" "50" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Thr642Met)" "" "0000624112" "00002098" "30" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Gly565=)" "" "0000624113" "00002098" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Leu161=)" "" "0000624114" "00002098" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Pro44=)" "" "0000650078" "00002098" "30" "2423" "0" "2423" "0" "c.2423T>G" "r.(?)" "p.(Leu808Arg)" "" "0000658703" "00002098" "50" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" "" "0000681549" "00002098" "30" "1587" "7" "1587" "7" "c.1587+7G>A" "r.(=)" "p.(=)" "" "0000692924" "00002098" "50" "2810" "0" "2810" "0" "c.2810A>G" "r.(?)" "p.(Glu937Gly)" "" "0000692925" "00002098" "30" "2409" "0" "2409" "0" "c.2409G>C" "r.(?)" "p.(Leu803=)" "" "0000692926" "00002098" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Leu8=)" "" "0000727586" "00002098" "70" "3052" "0" "3052" "0" "c.3052C>T" "r.(?)" "p.(Gln1018*)" "" "0000727587" "00002098" "50" "1396" "0" "1396" "0" "c.1396A>G" "r.(?)" "p.(Thr466Ala)" "" "0000727588" "00002098" "50" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233Gln)" "" "0000809124" "00002098" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Gly368Arg)" "" "0000809125" "00002098" "50" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Glu173Gly)" "" "0000809126" "00002098" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000809127" "00002098" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Gly67Ser)" "" "0000809128" "00002098" "50" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Thr23Met)" "" "0000855743" "00002098" "30" "2370" "0" "2370" "0" "c.2370C>T" "r.(?)" "p.(Ala790=)" "" "0000855744" "00002098" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Trp)" "" "0000855745" "00002098" "50" "-99" "-6" "-99" "-5" "c.-99-6_-99-5del" "r.spl?" "p.?" "" "0000866368" "00002098" "30" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Gly1065Ser)" "" "0000866369" "00002098" "50" "1987" "0" "1987" "0" "c.1987C>A" "r.(?)" "p.(Pro663Thr)" "" "0000895204" "00002098" "50" "125" "0" "125" "0" "c.125C>A" "r.(?)" "p.(Ala42Asp)" "" "0000895205" "00002098" "50" "125" "0" "125" "0" "c.125C>A" "r.(?)" "p.(Ala42Asp)" "" "0000915334" "00002098" "70" "2260" "0" "2261" "0" "c.2260_2261insTG" "r.(?)" "p.(Ser754Leufs*19)" "" "0000926965" "00002098" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Thr23Met)" "" "0000951386" "00002098" "30" "2661" "-8" "2661" "-8" "c.2661-8T>G" "r.(=)" "p.(=)" "" "0000951387" "00002098" "30" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Pro666Ser)" "" "0000951388" "00002098" "50" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Thr642Met)" "" "0000983715" "00002098" "50" "2661" "-2" "2661" "-2" "c.2661-2A>C" "r.spl?" "p.?" "" "0001015847" "00002098" "30" "2415" "0" "2415" "0" "c.2415G>A" "r.(?)" "p.(=)" "" "0001043240" "00002098" "50" "2742" "0" "2780" "0" "c.2742_2780dup" "r.(?)" "p.(Val915_Ala927dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000088204" "0000140581" "0000088205" "0000140580" "0000088205" "0000140583" "0000088206" "0000140582" "0000088206" "0000140584" "0000088206" "0000140585" "0000088206" "0000140586" "0000088207" "0000140587" "0000088281" "0000141613" "0000088282" "0000141614" "0000088283" "0000141615" "0000088284" "0000141616" "0000088285" "0000141617" "0000088286" "0000141618" "0000088287" "0000141619" "0000088288" "0000141620" "0000088289" "0000141621" "0000293389" "0000650078"