### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL11A2) # 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}}" "COL11A2" "collagen, type XI, alpha 2" "6" "p21.3" "no" "NG_011589.1" "UD_132118643235" "" "http://www.LOVD.nl/COL11A2" "" "1" "2187" "1302" "120290" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/COL11A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-03-13 12:34:41" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024025" "COL11A2" "transcript variant 1" "003" "NM_080680.2" "" "NP_542411.2" "" "" "" "-228" "6197" "5211" "33160245" "33130469" "00006" "2015-03-13 12:33:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "00695" "OSMEDB" "Otospondylomegaepiphyseal dysplasia, autosomal recessive" "AR" "215150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01569" "OSMEDA" "dysplasia, otospondylomegaepiphyseal, autosomal dominant" "AD" "184840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02127" "WZS" "Weissenbacher-Zweymuller syndrome (WZS)" "" "277610" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-13 12:26:04" "02397" "DFNA13" "deafness, autosomal dominant, type 13 (DFNA-13)" "AD" "601868" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02871" "DFNB53" "deafness, autosomal recessive, type 53 (DFNB-53)" "AR" "609706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03676" "FBCG2" "fibrochondrogenesis, type 2 (FBCG-2)" "AD;AR" "614524" "" "" "" "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" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "04258" "-" "osteoarthritis" "" "" "" "" "" "00006" "2015-05-08 12:09:48" "" "" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05943" "VERBRAS" "Ververi-Brady syndrome syndrome (VERBRAS)" "AD" "617982" "" "" "" "00006" "2021-05-28 08:24:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "COL11A2" "00695" "COL11A2" "01569" "COL11A2" "02127" "COL11A2" "02397" "COL11A2" "02871" "COL11A2" "03676" ## Individuals ## Do not remove or alter this header ## ## Count = 86 "{{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}}" "00059136" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059137" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00283189" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283190" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283191" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283192" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00283193" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283194" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283195" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00283196" "" "" "" "1" "" "00004" "{PMID:Robin 1993:20301479}, {PMID:Brunner 1994:7833911}, {PMID:Vikkula 1995:7859284}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283197" "" "" "" "1" "" "00004" "{PMID:Pihlajamaa 1998:9805126}, {PMID:Giedion 1982:7153059}, {PMID:WEISSENBACHER 1964:14234962}" "" "" "" "" "" "0" "" "" "" "" "00283198" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00283199" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283200" "" "" "" "1" "" "00004" "{PMID:Robin 1993:20301479}, {PMID:Vuoristo 2004:15372529}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283201" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Harel 2005:15558753}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283202" "" "" "" "2" "" "00006" "{PMID:Temtamy 2006:16637051}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Egypt" "" "0" "" "" "" "FamPatIII1/2" "00283203" "" "" "" "1" "" "00004" "{PMID:Iwasa 2015:25780254}" "" "" "" "" "" "0" "" "" "" "" "00283204" "" "" "" "1" "" "00004" "{PMID:van Beelen 2012:22796475}" "" "" "" "" "" "0" "" "" "" "" "00283205" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283206" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283207" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00283208" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283209" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283210" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283211" "" "" "" "1" "" "00004" "{PMID:Tokgöz-Y?lmaz 2011:21208667}" "" "" "" "" "" "0" "" "" "" "" "00283212" "" "" "" "1" "" "00004" "{PMID:Avcin 2008:18381781}" "" "" "" "" "" "0" "" "" "" "" "00283213" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:McGuirt 1999:10581026}" "" "" "" "" "" "0" "" "" "" "" "00283214" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}" "" "" "" "" "" "0" "" "" "" "" "00283215" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283216" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283217" "" "" "" "1" "" "00004" "{PMID:Tompson 2012:22246659}" "" "" "" "" "" "0" "" "" "" "" "00283218" "" "" "" "1" "" "00004" "{PMID:Kayserili 2011:21204229}" "" "" "" "" "" "0" "" "" "" "" "00283219" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283220" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283221" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283222" "" "" "" "1" "" "00004" "{PMID:Chakchouk 2015:25633957}" "" "" "" "" "" "0" "" "" "" "" "00283223" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283224" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283225" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:McGuirt 1999:10581026}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283226" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}" "" "" "" "" "" "0" "" "" "" "" "00283227" "" "" "" "1" "" "00004" "{PMID:Miller 2010:20466091}, {PMID:Farwell 2015:25356970}" "" "" "" "" "" "0" "" "" "" "" "00283228" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283229" "" "" "" "1" "" "00004" "{PMID:van Steensel 1997:9188673}, {PMID:Vikkula 1995:7859284}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283230" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283231" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283232" "" "" "" "1" "" "00004" "{PMID:Chen 2005:16033917}" "" "" "" "" "" "0" "" "" "" "" "00283233" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283234" "" "" "" "1" "" "00004" "{PMID:Tompson 2012:22246659}" "" "" "" "" "" "0" "" "" "" "" "00283235" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283236" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}, {PMID:Jakkula 2005:15922184}" "" "" "" "" "" "0" "" "" "" "" "00283237" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283238" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283239" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2003:12673280}" "" "" "" "" "" "0" "" "" "" "" "00283240" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283241" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283242" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283243" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2000:10677296}" "" "" "" "" "" "0" "" "" "" "" "00283244" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283245" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2003:12673280}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283246" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283247" "" "" "" "1" "" "00004" "{PMID:Chakchouk 2015:25633957}" "" "" "" "" "" "0" "" "" "" "" "00289282" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00294084" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294085" "" "" "" "111" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294086" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294087" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294088" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294089" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305091" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305092" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305093" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311018" "" "" "" "1" "" "02544" "" "" "M" "" "(Italy)" "" "" "" "" "" "" "00331365" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "15DG1315" "00331366" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "17DG0785" "00358956" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71703" "00374695" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3155" "00375000" "" "" "" "1" "" "00006" "{PMID:Ververi 2018:28692176}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Decipher272334" "00397397" "" "" "" "3" "" "00006" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SB61-109" "00431797" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0157" "00431798" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0158" "00431802" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0162" "00431812" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0172" "00431819" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0180" "00431823" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0184" "00441512" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "4106" "00441546" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC8530" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 64 "{{individualid}}" "{{diseaseid}}" "00059136" "00531" "00059137" "00531" "00283189" "00198" "00283192" "04224" "00283195" "04224" "00283196" "04224" "00283197" "00198" "00283198" "04224" "00283200" "04224" "00283201" "00198" "00283202" "00198" "00283203" "04224" "00283204" "04224" "00283205" "00198" "00283207" "04224" "00283210" "05103" "00283211" "00198" "00283212" "04258" "00283213" "05103" "00283214" "00198" "00283215" "04224" "00283217" "00198" "00283218" "00198" "00283222" "05103" "00283224" "00198" "00283225" "05103" "00283226" "00198" "00283227" "00198" "00283228" "05103" "00283229" "00198" "00283230" "00198" "00283232" "05086" "00283234" "00198" "00283235" "00198" "00283239" "00198" "00283241" "05086" "00283243" "00198" "00283245" "00198" "00283247" "05103" "00289282" "00198" "00294084" "00198" "00294085" "00198" "00294086" "00198" "00294087" "00198" "00294088" "00198" "00294089" "00198" "00305091" "00198" "00305092" "00198" "00305093" "00198" "00311018" "04224" "00331365" "05517" "00331366" "05517" "00358956" "04214" "00374695" "00198" "00375000" "05943" "00397397" "05086" "00431797" "00198" "00431798" "00198" "00431802" "00198" "00431812" "00198" "00431819" "00198" "00431823" "00198" "00441512" "05086" "00441546" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00531, 00695, 01569, 02127, 02397, 02871, 03676, 04214, 04224, 04258, 05086, 05103, 05517, 05943 ## Count = 51 "{{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}}" "0000216655" "00198" "00283189" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216656" "00198" "00283197" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Weissenbacher-Zweymuller syndrome" "" "0000216657" "00198" "00283201" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216658" "00198" "00283202" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "OSMED" "otospondylomegaepiphyseal dysplasia" "" "0000216659" "00198" "00283205" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216660" "00198" "00283211" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216661" "00198" "00283214" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216662" "00198" "00283217" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216663" "00198" "00283218" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216664" "00198" "00283224" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216665" "00198" "00283226" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216666" "00198" "00283227" "00008" "Unknown" "" "MR;ID;DD _ audiologic;otolaryngologic (child onset); cardiovascular (child onset); craniofacial (child onset); musculoskeletal;structural (child onset); multiple congenital anomalies (+;- neurodevelopmental symptoms)" "" "" "" "" "" "" "" "" "" "Multiple congenital anomalies" "" "0000216667" "00198" "00283229" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Osteochondrodysplasia" "" "0000216668" "00198" "00283230" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216669" "00198" "00283234" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216670" "00198" "00283235" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216671" "00198" "00283239" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Micrognathia" "" "0000216672" "00198" "00283243" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Otospondylomegaepiphyseal dysplasia" "" "0000216673" "00198" "00283245" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Robin sequence" "" "0000218049" "04224" "00283192" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218050" "04224" "00283195" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218051" "04224" "00283196" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218052" "04224" "00283198" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218053" "04224" "00283200" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome, without eye involvement" "" "0000218054" "04224" "00283203" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218055" "04224" "00283204" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome, without eye involvement" "" "0000218056" "04224" "00283207" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218057" "04224" "00283215" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 3" "Stickler syndrome" "" "0000218058" "04258" "00283212" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Osteoarthritis, early-onset" "" "0000218187" "05086" "00283232" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218188" "05086" "00283241" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218449" "05103" "00283210" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218450" "05103" "00283213" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 13" "deafness, autosomal dominant" "" "0000218451" "05103" "00283222" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218452" "05103" "00283225" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 13" "deafness, autosomal dominant" "" "0000218453" "05103" "00283228" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218454" "05103" "00283247" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000222913" "00198" "00289282" "01164" "Unknown" "" "Cleft palate (HP:0000175); Pierre-Robin sequence (HP:0000201)" "" "" "" "" "" "" "" "" "" "" "" "0000249557" "05517" "00331365" "00000" "Familial, autosomal recessive" "" "Micromelia, Abnormal facial shape" "" "" "" "" "" "" "" "" "collagen group, type 11" "skeletal dysplasia" "" "0000249558" "05517" "00331366" "00000" "Familial, autosomal recessive" "" "Sensorineural hearing impairment, Limb undergrowth, Relative macrocephaly, Narrow cheNo" "" "" "" "" "" "" "" "" "collagen group, type 11" "skeletal dysplasia" "" "0000254254" "04214" "00358956" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000269905" "00198" "00374695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000270210" "05943" "00375000" "00006" "Isolated (sporadic)" "14y06m" "see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L" "" "" "" "" "" "" "" "" "VERBRAS" "Ververi-Brady syndrome" "" "0000290535" "05086" "00397397" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000322366" "00198" "00431797" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322367" "00198" "00431798" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322371" "00198" "00431802" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322381" "00198" "00431812" "04136" "Unknown" "" "reclassified as OI after molecular testing" "" "" "" "" "" "" "" "" "OI" "unclassified Mendelian soft connective tissue disorder" "" "0000322388" "00198" "00431819" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322392" "00198" "00431823" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000330950" "05086" "00441512" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 86 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059106" "00059136" "1" "01551" "01551" "2016-02-29 09:19:49" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059108" "00059137" "1" "01551" "01551" "2016-02-29 09:26:58" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000284339" "00283189" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284340" "00283190" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284341" "00283191" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284342" "00283192" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284343" "00283193" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284344" "00283194" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284345" "00283195" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284346" "00283196" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284347" "00283197" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284348" "00283198" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284349" "00283199" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284350" "00283200" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284351" "00283201" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284352" "00283202" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284353" "00283203" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284354" "00283204" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284355" "00283205" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284356" "00283206" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284357" "00283207" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284358" "00283208" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284359" "00283209" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284360" "00283210" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284361" "00283211" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284362" "00283212" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284363" "00283213" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284364" "00283214" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284365" "00283215" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284366" "00283216" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284367" "00283217" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284368" "00283218" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284369" "00283219" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284370" "00283220" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284371" "00283221" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284372" "00283222" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284373" "00283223" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284374" "00283224" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284375" "00283225" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284376" "00283226" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284377" "00283227" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284378" "00283228" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284379" "00283229" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284380" "00283230" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284381" "00283231" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284382" "00283232" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284383" "00283233" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284384" "00283234" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284385" "00283235" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284386" "00283236" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284387" "00283237" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284388" "00283238" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284389" "00283239" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284390" "00283240" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284391" "00283241" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284392" "00283242" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284393" "00283243" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284394" "00283244" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284395" "00283245" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284396" "00283246" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284397" "00283247" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000290452" "00289282" "1" "01164" "01164" "2020-03-02 12:26:15" "" "" "SEQ-NG-S" "DNA" "" "" "0000295252" "00294084" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295253" "00294085" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295254" "00294086" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295255" "00294087" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295256" "00294088" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295257" "00294089" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306220" "00305091" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306221" "00305092" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306222" "00305093" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312170" "00311018" "1" "02544" "02544" "2020-09-14 09:53:23" "" "" "SEQ-NG" "DNA" "blood" "" "0000332584" "00331365" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332585" "00331366" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360193" "00358956" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000375889" "00374695" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376194" "00375000" "1" "00006" "00006" "2021-05-28 08:52:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000398637" "00397397" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000433236" "00431797" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433237" "00431798" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433241" "00431802" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433251" "00431812" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433258" "00431819" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433262" "00431823" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000442998" "00441512" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443032" "00441546" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000059106" "COL11A2" "0000059108" "COL11A2" "0000284339" "COL11A2" "0000284340" "COL11A2" "0000284341" "COL11A2" "0000284342" "COL11A2" "0000284343" "COL11A2" "0000284344" "COL11A2" "0000284345" "COL11A2" "0000284346" "COL11A2" "0000284347" "COL11A2" "0000284348" "COL11A2" "0000284349" "COL11A2" "0000284350" "COL11A2" "0000284351" "COL11A2" "0000284352" "COL11A2" "0000284353" "COL11A2" "0000284354" "COL11A2" "0000284355" "COL11A2" "0000284356" "COL11A2" "0000284357" "COL11A2" "0000284358" "COL11A2" "0000284359" "COL11A2" "0000284360" "COL11A2" "0000284361" "COL11A2" "0000284362" "COL11A2" "0000284363" "COL11A2" "0000284364" "COL11A2" "0000284365" "COL11A2" "0000284366" "COL11A2" "0000284367" "COL11A2" "0000284368" "COL11A2" "0000284369" "COL11A2" "0000284370" "COL11A2" "0000284371" "COL11A2" "0000284372" "COL11A2" "0000284373" "COL11A2" "0000284374" "COL11A2" "0000284375" "COL11A2" "0000284376" "COL11A2" "0000284377" "COL11A2" "0000284378" "COL11A2" "0000284379" "COL11A2" "0000284380" "COL11A2" "0000284381" "COL11A2" "0000284382" "COL11A2" "0000284383" "COL11A2" "0000284384" "COL11A2" "0000284385" "COL11A2" "0000284386" "COL11A2" "0000284387" "COL11A2" "0000284388" "COL11A2" "0000284389" "COL11A2" "0000284390" "COL11A2" "0000284391" "COL11A2" "0000284392" "COL11A2" "0000284393" "COL11A2" "0000284394" "COL11A2" "0000284395" "COL11A2" "0000284396" "COL11A2" "0000284397" "COL11A2" "0000332584" "COL11A2" "0000332585" "COL11A2" "0000375889" "COL11A2" "0000376194" "QRICH1" "0000398637" "COL11A2" ## 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 = 382 "{{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}}" "0000089903" "0" "50" "6" "33134303" "33134303" "subst" "5.30383E-5" "01551" "COL11A2_000001" "g.33134303G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000089905" "0" "50" "6" "33141326" "33141326" "subst" "0" "01551" "COL11A2_000002" "g.33141326G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000248302" "0" "10" "6" "33141161" "33141161" "subst" "0.789402" "02325" "COL11A2_000030" "g.33141161A>G" "" "" "" "COL11A2(NM_080680.2):c.2700T>C (p.D900=), COL11A2(NM_080680.3):c.2700T>C (p.D900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173384A>G" "" "benign" "" "0000248331" "0" "10" "6" "33152835" "33152835" "subst" "0.298413" "02325" "COL11A2_000052" "g.33152835A>T" "" "" "" "COL11A2(NM_080680.3):c.877-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33185058A>T" "" "benign" "" "0000250037" "0" "10" "6" "33141161" "33141161" "subst" "0.789402" "02329" "COL11A2_000030" "g.33141161A>G" "" "" "" "COL11A2(NM_080680.2):c.2700T>C (p.D900=), COL11A2(NM_080680.3):c.2700T>C (p.D900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173384A>G" "" "benign" "" "0000250066" "0" "10" "6" "33152835" "33152835" "subst" "0.298413" "02329" "COL11A2_000052" "g.33152835A>T" "" "" "" "COL11A2(NM_080680.3):c.877-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33185058A>T" "" "benign" "" "0000253536" "0" "10" "6" "33133732" "33133732" "subst" "0.00277329" "01943" "COL11A2_000012" "g.33133732A>T" "" "" "" "COL11A2(NM_080680.2):c.4458T>A (p.G1486=), COL11A2(NM_080680.3):c.4458T>A (p.G1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165955A>T" "" "benign" "" "0000254976" "0" "30" "6" "33156265" "33156265" "subst" "0.00043975" "01943" "COL11A2_000057" "g.33156265A>C" "" "" "" "COL11A2(NM_080680.2):c.480T>G (p.S160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33188488A>C" "" "likely benign" "" "0000255144" "0" "30" "6" "33143450" "33143450" "subst" "0" "01943" "COL11A2_000038" "g.33143450A>C" "" "" "" "COL11A2(NM_080680.2):c.2277T>G (p.V759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33175673A>C" "" "likely benign" "" "0000255238" "0" "30" "6" "33137882" "33137882" "subst" "0.000439051" "01943" "COL11A2_000075" "g.33137882A>G" "" "" "" "COL11A2(NM_080679.2):c.3262-5T>C (p.?), COL11A2(NM_080680.2):c.3583-5T>C, COL11A2(NM_080680.3):c.3583-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170105A>G" "" "likely benign" "" "0000266888" "0" "10" "6" "33147589" "33147589" "subst" "0.999996" "02325" "COL11A2_000047" "g.33147589T>G" "" "" "" "COL11A2(NM_080680.2):c.1360-7A>C, COL11A2(NM_080680.3):c.1360-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179812T>G" "" "benign" "" "0000266889" "0" "10" "6" "33144243" "33144243" "subst" "0.484407" "02325" "COL11A2_000039" "g.33144243T>A" "" "" "" "COL11A2(NM_080680.2):c.2136A>T (p.G712=), COL11A2(NM_080680.3):c.2136A>T (p.G712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33176466T>A" "" "benign" "" "0000266890" "0" "50" "6" "33141678" "33141678" "subst" "0.000158399" "02325" "COL11A2_000035" "g.33141678C>T" "" "" "" "COL11A2(NM_080679.2):c.2234G>A (p.(Arg745Gln)), COL11A2(NM_080680.2):c.2555G>A (p.R852Q), COL11A2(NM_080680.3):c.2555G>A (p.R852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173901C>T" "" "VUS" "" "0000266891" "0" "10" "6" "33141475" "33141475" "subst" "0.603361" "02325" "COL11A2_000033" "g.33141475C>T" "" "" "" "COL11A2(NM_080680.2):c.2628+3G>A, COL11A2(NM_080680.3):c.2628+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173698C>T" "" "benign" "" "0000266892" "0" "10" "6" "33139475" "33139475" "subst" "0.782779" "02325" "COL11A2_000027" "g.33139475T>G" "" "" "" "COL11A2(NM_080680.2):c.3150+15A>C, COL11A2(NM_080680.3):c.3150+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171698T>G" "" "benign" "" "0000266893" "0" "10" "6" "33138955" "33138955" "subst" "0.743639" "02325" "COL11A2_000025" "g.33138955G>A" "" "" "" "COL11A2(NM_080680.2):c.3313-11C>T, COL11A2(NM_080680.3):c.3313-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171178G>A" "" "benign" "" "0000266894" "0" "10" "6" "33138677" "33138677" "subst" "0.260386" "02325" "COL11A2_000024" "g.33138677G>A" "" "" "" "COL11A2(NM_080680.3):c.3384C>T (p.P1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170900G>A" "" "benign" "" "0000266895" "0" "10" "6" "33153528" "33153528" "subst" "0.296995" "02325" "COL11A2_000053" "g.33153528C>T" "" "" "" "COL11A2(NM_080680.3):c.826G>A (p.E276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33185751C>T" "" "benign" "" "0000268181" "0" "10" "6" "33148878" "33148878" "subst" "0.121967" "02329" "COL11A2_000049" "g.33148878C>T" "" "" "" "COL11A2(NM_080680.3):c.1179+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33181101C>T" "" "benign" "" "0000268182" "0" "10" "6" "33147589" "33147589" "subst" "0.999996" "02329" "COL11A2_000047" "g.33147589T>G" "" "" "" "COL11A2(NM_080680.2):c.1360-7A>C, COL11A2(NM_080680.3):c.1360-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179812T>G" "" "benign" "" "0000268183" "0" "30" "6" "33146880" "33146880" "subst" "1.22445E-5" "02329" "COL11A2_000044" "g.33146880G>A" "" "" "" "COL11A2(NM_080680.3):c.1581C>T (p.L527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179103G>A" "" "likely benign" "" "0000268184" "0" "10" "6" "33146121" "33146121" "subst" "0.00692618" "02329" "COL11A2_000041" "g.33146121G>A" "" "" "" "COL11A2(NM_080680.2):c.1782C>T (p.D594=), COL11A2(NM_080680.3):c.1782C>T (p.D594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178344G>A" "" "benign" "" "0000268185" "0" "10" "6" "33144243" "33144243" "subst" "0.484407" "02329" "COL11A2_000039" "g.33144243T>A" "" "" "" "COL11A2(NM_080680.2):c.2136A>T (p.G712=), COL11A2(NM_080680.3):c.2136A>T (p.G712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33176466T>A" "" "benign" "" "0000268186" "0" "10" "6" "33141934" "33141934" "del" "0" "02329" "COL11A2_000036" "g.33141934del" "" "" "" "COL11A2(NM_080680.3):c.2484+13delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33174157del" "" "benign" "" "0000268187" "0" "30" "6" "33141532" "33141532" "del" "0" "02329" "COL11A2_000034" "g.33141532del" "" "" "" "COL11A2(NM_080680.2):c.2584-5delC, COL11A2(NM_080680.3):c.2584-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173755del" "" "likely benign" "" "0000268188" "0" "10" "6" "33141475" "33141475" "subst" "0.603361" "02329" "COL11A2_000033" "g.33141475C>T" "" "" "" "COL11A2(NM_080680.2):c.2628+3G>A, COL11A2(NM_080680.3):c.2628+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173698C>T" "" "benign" "" "0000268189" "0" "10" "6" "33141280" "33141280" "subst" "0.121898" "02329" "COL11A2_000032" "g.33141280G>A" "" "" "" "COL11A2(NM_080680.3):c.2681C>T (p.P894L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173503G>A" "" "benign" "" "0000268190" "0" "90" "6" "33141177" "33141177" "subst" "3.75984E-5" "02329" "COL11A2_000031" "g.33141177C>G" "" "" "" "COL11A2(NM_080680.3):c.2684G>C (p.G895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173400C>G" "" "pathogenic" "" "0000268191" "0" "10" "6" "33139475" "33139475" "subst" "0.782779" "02329" "COL11A2_000027" "g.33139475T>G" "" "" "" "COL11A2(NM_080680.2):c.3150+15A>C, COL11A2(NM_080680.3):c.3150+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171698T>G" "" "benign" "" "0000268192" "0" "10" "6" "33138955" "33138955" "subst" "0.743639" "02329" "COL11A2_000025" "g.33138955G>A" "" "" "" "COL11A2(NM_080680.2):c.3313-11C>T, COL11A2(NM_080680.3):c.3313-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171178G>A" "" "benign" "" "0000268193" "0" "10" "6" "33138677" "33138677" "subst" "0.260386" "02329" "COL11A2_000024" "g.33138677G>A" "" "" "" "COL11A2(NM_080680.3):c.3384C>T (p.P1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170900G>A" "" "benign" "" "0000268194" "0" "10" "6" "33136310" "33136310" "subst" "0.0344903" "02329" "COL11A2_000019" "g.33136310G>T" "" "" "" "COL11A2(NM_080680.3):c.3946C>A (p.P1316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33168533G>T" "" "benign" "" "0000268195" "0" "10" "6" "33131501" "33131501" "subst" "0.020367" "02329" "COL11A2_000003" "g.33131501G>A" "" "" "" "COL11A2(NM_080679.2):c.4844C>T (p.(Pro1615Leu)), COL11A2(NM_080680.3):c.5165C>T (p.P1722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33163724G>A" "" "benign" "" "0000268196" "0" "30" "6" "33154580" "33154580" "subst" "0.000113753" "02329" "COL11A2_000055" "g.33154580G>A" "" "" "" "COL11A2(NM_080680.2):c.622C>T (p.L208=), COL11A2(NM_080680.3):c.622C>T (p.L208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33186803G>A" "" "likely benign" "" "0000268197" "0" "10" "6" "33153528" "33153528" "subst" "0.296995" "02329" "COL11A2_000053" "g.33153528C>T" "" "" "" "COL11A2(NM_080680.3):c.826G>A (p.E276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33185751C>T" "" "benign" "" "0000270365" "0" "30" "6" "33156201" "33156201" "subst" "4.97781E-5" "02326" "COL11A2_000056" "g.33156201C>T" "" "" "" "COL11A2(NM_080680.2):c.544G>A (p.V182I), COL11A2(NM_080680.3):c.544G>A (p.V182I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33188424C>T" "" "likely benign" "" "0000273784" "0" "30" "6" "33148765" "33148765" "subst" "4.06855E-6" "01943" "COL11A2_000048" "g.33148765C>G" "" "" "" "COL11A2(NM_080680.2):c.1197G>C (p.G399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33180988C>G" "" "likely benign" "" "0000273785" "0" "50" "6" "33147222" "33147222" "subst" "0" "01943" "COL11A2_000046" "g.33147222G>A" "" "" "" "COL11A2(NM_080680.2):c.1489C>T (p.R497C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179445G>A" "" "VUS" "" "0000273786" "0" "30" "6" "33147070" "33147070" "subst" "0" "01943" "COL11A2_000045" "g.33147070G>C" "" "" "" "COL11A2(NM_080680.2):c.1504-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179293G>C" "" "likely benign" "" "0000273787" "0" "30" "6" "33146747" "33146747" "subst" "0.00113745" "01943" "COL11A2_000043" "g.33146747G>A" "" "" "" "COL11A2(NM_080679.2):c.1294C>T (p.(Arg432Trp)), COL11A2(NM_080680.2):c.1615C>T (p.R539W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178970G>A" "" "likely benign" "" "0000273788" "0" "50" "6" "33146233" "33146241" "del" "0" "01943" "COL11A2_000042" "g.33146233_33146241del" "" "" "" "COL11A2(NM_080680.2):c.1750_1758delCCCCCTGGT (p.P584_G586del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178456_33178464del" "" "VUS" "" "0000273789" "0" "30" "6" "33146121" "33146121" "subst" "0.00692618" "01943" "COL11A2_000041" "g.33146121G>A" "" "" "" "COL11A2(NM_080680.2):c.1782C>T (p.D594=), COL11A2(NM_080680.3):c.1782C>T (p.D594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178344G>A" "" "likely benign" "" "0000273790" "0" "30" "6" "33145971" "33145980" "del" "0.000324219" "01943" "COL11A2_000040" "g.33145971_33145980del" "" "" "" "COL11A2(NM_080680.2):c.1819-18_1819-9delCCCTCACCGT, COL11A2(NM_080680.3):c.1819-18_1819-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178194_33178203del" "" "likely benign" "" "0000273791" "0" "30" "6" "33143391" "33143391" "subst" "0.00260732" "01943" "COL11A2_000037" "g.33143391G>A" "" "" "" "COL11A2(NM_080679.2):c.2015C>T (p.(Pro672Leu)), COL11A2(NM_080680.2):c.2336C>T (p.P779L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33175614G>A" "" "likely benign" "" "0000273792" "0" "30" "6" "33141532" "33141532" "del" "0" "01943" "COL11A2_000034" "g.33141532del" "" "" "" "COL11A2(NM_080680.2):c.2584-5delC, COL11A2(NM_080680.3):c.2584-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173755del" "" "likely benign" "" "0000273793" "0" "30" "6" "33156937" "33156937" "subst" "0" "01943" "COL11A2_000059" "g.33156937C>G" "" "" "" "COL11A2(NM_080680.2):c.261G>C (p.L87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33189160C>G" "" "likely benign" "" "0000273794" "0" "70" "6" "33140889" "33140889" "subst" "0" "01943" "COL11A2_000029" "g.33140889C>A" "" "" "" "COL11A2(NM_080680.2):c.2738G>T (p.G913V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173112C>A" "" "likely pathogenic" "" "0000273795" "0" "30" "6" "33139529" "33139529" "subst" "0.0044892" "01943" "COL11A2_000028" "g.33139529C>A" "" "" "" "COL11A2(NM_080680.2):c.3111G>T (p.P1037=), COL11A2(NM_080680.3):c.3111G>T (p.P1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171752C>A" "" "likely benign" "" "0000273796" "0" "30" "6" "33139071" "33139071" "subst" "0.000174615" "01943" "COL11A2_000026" "g.33139071T>G" "" "" "" "COL11A2(NM_080680.2):c.3289A>C (p.T1097P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171294T>G" "" "likely benign" "" "0000273797" "0" "30" "6" "33156845" "33156845" "subst" "0.00209572" "01943" "COL11A2_000058" "g.33156845C>G" "" "" "" "COL11A2(NM_001163771.1):c.353G>C (p.(Arg118Pro)), COL11A2(NM_080680.2):c.353G>C (p.R118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33189068C>G" "" "likely benign" "" "0000273798" "0" "50" "6" "33138140" "33138140" "subst" "8.17969E-6" "01943" "COL11A2_000023" "g.33138140G>T" "" "" "" "COL11A2(NM_080680.2):c.3545C>A (p.P1182Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170363G>T" "" "VUS" "" "0000273799" "0" "30" "6" "33137844" "33137844" "subst" "0.000347685" "01943" "COL11A2_000022" "g.33137844G>A" "" "" "" "COL11A2(NM_080680.2):c.3616C>T (p.L1206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170067G>A" "" "likely benign" "" "0000273800" "0" "30" "6" "33137644" "33137644" "subst" "0.000280212" "01943" "COL11A2_000021" "g.33137644T>C" "" "" "" "COL11A2(NM_080680.2):c.3654A>G (p.S1218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33169867T>C" "" "likely benign" "" "0000273801" "0" "30" "6" "33137259" "33137259" "subst" "0.00444304" "01943" "COL11A2_000020" "g.33137259G>A" "" "" "" "COL11A2(NM_080680.2):c.3699C>T (p.R1233=), COL11A2(NM_080680.3):c.3699C>T (p.R1233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33169482G>A" "" "likely benign" "" "0000273802" "0" "30" "6" "33135615" "33135615" "subst" "7.55433E-5" "01943" "COL11A2_000018" "g.33135615C>G" "" "" "" "COL11A2(NM_080680.2):c.3975G>C (p.S1325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33167838C>G" "" "likely benign" "" "0000273803" "0" "50" "6" "33135598" "33135598" "subst" "1.2468E-5" "01943" "COL11A2_000017" "g.33135598C>T" "" "" "" "COL11A2(NM_080680.2):c.3992G>A (p.R1331Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33167821C>T" "" "VUS" "" "0000273804" "0" "30" "6" "33134871" "33134871" "subst" "8.12506E-6" "01943" "COL11A2_000016" "g.33134871G>A" "" "" "" "COL11A2(NM_080680.2):c.4206C>T (p.G1402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33167094G>A" "" "likely benign" "" "0000273805" "0" "70" "6" "33134585" "33134585" "subst" "0" "01943" "COL11A2_000015" "g.33134585C>T" "" "" "" "COL11A2(NM_080680.2):c.4250G>A (p.G1417E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33166808C>T" "" "likely pathogenic" "" "0000273806" "0" "30" "6" "33134299" "33134299" "subst" "0.0017689" "01943" "COL11A2_000014" "g.33134299G>A" "" "" "" "COL11A2(NM_080680.2):c.4383C>T (p.P1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33166522G>A" "" "likely benign" "" "0000273807" "0" "50" "6" "33133980" "33133980" "subst" "0" "01943" "COL11A2_000013" "g.33133980G>A" "" "" "" "COL11A2(NM_080680.2):c.4396C>T (p.P1466S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33166203G>A" "" "VUS" "" "0000273808" "0" "30" "6" "33133555" "33133555" "subst" "0.00165725" "01943" "COL11A2_000011" "g.33133555C>T" "" "" "" "COL11A2(NM_080680.2):c.4521G>A (p.Q1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165778C>T" "" "likely benign" "" "0000273809" "0" "30" "6" "33133537" "33133537" "subst" "4.08928E-6" "01943" "COL11A2_000010" "g.33133537C>T" "" "" "" "COL11A2(NM_080680.2):c.4539G>A (p.R1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165760C>T" "" "likely benign" "" "0000273810" "0" "50" "6" "33133424" "33133424" "subst" "0.000510825" "01943" "COL11A2_000009" "g.33133424C>T" "" "" "" "COL11A2(NM_080680.2):c.4652G>A (p.R1551Q), COL11A2(NM_080680.3):c.4652G>A (p.(Arg1551Gln), p.R1551Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165647C>T" "" "VUS" "" "0000273811" "0" "30" "6" "33132242" "33132242" "subst" "0.000139186" "01943" "COL11A2_000008" "g.33132242G>A" "" "" "" "COL11A2(NM_080680.2):c.4872C>T (p.Y1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33164465G>A" "" "likely benign" "" "0000273812" "0" "30" "6" "33132164" "33132164" "subst" "0.000465987" "01943" "COL11A2_000007" "g.33132164G>A" "" "" "" "COL11A2(NM_080680.2):c.4950C>T (p.D1650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33164387G>A" "" "likely benign" "" "0000273813" "0" "30" "6" "33132114" "33132114" "subst" "0.00191561" "01943" "COL11A2_000006" "g.33132114C>T" "" "" "" "COL11A2(NM_080679.2):c.4679G>A (p.(Arg1560His)), COL11A2(NM_080680.2):c.5000G>A (p.R1667H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33164337C>T" "" "likely benign" "" "0000273814" "0" "30" "6" "33131602" "33131602" "subst" "7.95952E-5" "01943" "COL11A2_000005" "g.33131602G>C" "" "" "" "COL11A2(NM_080680.2):c.5071-7C>G, COL11A2(NM_080680.3):c.5071-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33163825G>C" "" "likely benign" "" "0000273815" "0" "30" "6" "33131578" "33131578" "subst" "5.02344E-5" "01943" "COL11A2_000004" "g.33131578C>T" "" "" "" "COL11A2(NM_080680.2):c.5088G>A (p.T1696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33163801C>T" "" "likely benign" "" "0000273816" "0" "30" "6" "33156201" "33156201" "subst" "4.97781E-5" "01943" "COL11A2_000056" "g.33156201C>T" "" "" "" "COL11A2(NM_080680.2):c.544G>A (p.V182I), COL11A2(NM_080680.3):c.544G>A (p.V182I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33188424C>T" "" "likely benign" "" "0000273817" "0" "30" "6" "33154574" "33154574" "subst" "1.2186E-5" "01943" "COL11A2_000054" "g.33154574T>C" "" "" "" "COL11A2(NM_080680.2):c.628A>G (p.I210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33186797T>C" "" "likely benign" "" "0000273819" "0" "30" "6" "33152069" "33152069" "subst" "3.25399E-5" "01943" "COL11A2_000050" "g.33152069G>A" "" "" "" "COL11A2(NM_080680.2):c.972C>T (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33184292G>A" "" "likely benign" "" "0000337797" "0" "90" "6" "33133707" "33133707" "subst" "0" "02327" "COL11A2_000061" "g.33133707C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165930C>A" "" "pathogenic" "" "0000337798" "0" "10" "6" "33139475" "33139475" "subst" "0.782779" "02327" "COL11A2_000027" "g.33139475T>G" "" "" "" "COL11A2(NM_080680.2):c.3150+15A>C, COL11A2(NM_080680.3):c.3150+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171698T>G" "" "benign" "" "0000337799" "0" "10" "6" "33141161" "33141161" "subst" "0.789402" "02327" "COL11A2_000030" "g.33141161A>G" "" "" "" "COL11A2(NM_080680.2):c.2700T>C (p.D900=), COL11A2(NM_080680.3):c.2700T>C (p.D900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173384A>G" "" "benign" "" "0000337800" "0" "10" "6" "33141475" "33141475" "subst" "0.603361" "02327" "COL11A2_000033" "g.33141475C>T" "" "" "" "COL11A2(NM_080680.2):c.2628+3G>A, COL11A2(NM_080680.3):c.2628+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173698C>T" "" "benign" "" "0000337801" "0" "10" "6" "33141920" "33141920" "subst" "0.77684" "02327" "COL11A2_000069" "g.33141920G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33174143G>C" "" "benign" "" "0000337804" "0" "10" "6" "33147589" "33147589" "subst" "0.999996" "02327" "COL11A2_000047" "g.33147589T>G" "" "" "" "COL11A2(NM_080680.2):c.1360-7A>C, COL11A2(NM_080680.3):c.1360-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179812T>G" "" "benign" "" "0000337805" "0" "10" "6" "33148878" "33148878" "subst" "0.121967" "02327" "COL11A2_000049" "g.33148878C>T" "" "" "" "COL11A2(NM_080680.3):c.1179+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33181101C>T" "" "benign" "" "0000337806" "0" "10" "6" "33152835" "33152835" "subst" "0.298413" "02327" "COL11A2_000052" "g.33152835A>T" "" "" "" "COL11A2(NM_080680.3):c.877-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33185058A>T" "" "benign" "" "0000337807" "0" "10" "6" "33160217" "33160217" "subst" "0" "02327" "COL11A2_000074" "g.33160217C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33192440C>T" "" "benign" "" "0000339888" "0" "10" "6" "33144243" "33144243" "subst" "0.484407" "02327" "COL11A2_000039" "g.33144243T>A" "" "" "" "COL11A2(NM_080680.2):c.2136A>T (p.G712=), COL11A2(NM_080680.3):c.2136A>T (p.G712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33176466T>A" "" "benign" "" "0000339889" "0" "30" "6" "33147041" "33147041" "subst" "8.44217E-6" "02327" "COL11A2_000072" "g.33147041G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33179264G>A" "" "likely benign" "" "0000341832" "0" "90" "6" "33135082" "33135082" "subst" "0" "02327" "COL11A2_000062" "g.33135082G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33167305G>A" "" "pathogenic" "" "0000343506" "0" "90" "6" "33139540" "33139540" "subst" "0" "02327" "COL11A2_000068" "g.33139540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171763G>A" "" "pathogenic" "" "0000344488" "0" "90" "6" "33138661" "33138661" "subst" "0" "02327" "COL11A2_000066" "g.33138661G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170884G>A" "" "pathogenic" "" "0000344698" "0" "90" "6" "33154457" "33154457" "subst" "0" "02327" "COL11A2_000073" "g.33154457G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33186680G>A" "" "pathogenic" "" "0000345667" "0" "70" "6" "33136339" "33136339" "subst" "0" "02327" "COL11A2_000064" "g.33136339C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33168562C>T" "" "likely pathogenic" "" "0000345728" "0" "50" "6" "33133485" "33133485" "subst" "8.22734E-6" "02327" "COL11A2_000060" "g.33133485C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33165708C>T" "" "VUS" "" "0000346117" "0" "50" "6" "33146237" "33146237" "subst" "0" "02327" "COL11A2_000071" "g.33146237C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33178460C>G" "" "VUS" "" "0000348117" "0" "10" "6" "33138677" "33138677" "subst" "0.260386" "02327" "COL11A2_000024" "g.33138677G>A" "" "" "" "COL11A2(NM_080680.3):c.3384C>T (p.P1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33170900G>A" "" "benign" "" "0000348225" "0" "10" "6" "33131501" "33131501" "subst" "0.020367" "02327" "COL11A2_000003" "g.33131501G>A" "" "" "" "COL11A2(NM_080679.2):c.4844C>T (p.(Pro1615Leu)), COL11A2(NM_080680.3):c.5165C>T (p.P1722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33163724G>A" "" "benign" "" "0000348578" "0" "10" "6" "33141280" "33141280" "subst" "0.121898" "02327" "COL11A2_000032" "g.33141280G>A" "" "" "" "COL11A2(NM_080680.3):c.2681C>T (p.P894L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33173503G>A" "" "benign" "" "0000348628" "0" "10" "6" "33139328" "33139328" "subst" "0.448862" "02327" "COL11A2_000067" "g.33139328C>T" "" "" "" "COL11A2(NM_080680.3):c.3174G>A (p.P1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171551C>T" "" "benign" "" "0000351125" "0" "10" "6" "33138955" "33138955" "subst" "0.743639" "02327" "COL11A2_000025" "g.33138955G>A" "" "" "" "COL11A2(NM_080680.2):c.3313-11C>T, COL11A2(NM_080680.3):c.3313-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33171178G>A" "" "benign" "" "0000528619" "0" "50" "6" "33131495" "33131495" "subst" "2.50677E-5" "02327" "COL11A2_000076" "g.33131495C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33163718C>T" "" "VUS" "" "0000528620" "0" "30" "6" "33131501" "33131501" "subst" "0.020367" "01804" "COL11A2_000003" "g.33131501G>A" "" "" "" "COL11A2(NM_080679.2):c.4844C>T (p.(Pro1615Leu)), COL11A2(NM_080680.3):c.5165C>T (p.P1722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33163724G>A" "" "likely benign" "" "0000528621" "0" "50" "6" "33131555" "33131555" "subst" "8.36806E-6" "02327" "COL11A2_000077" "g.33131555A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33163778A>C" "" "VUS" "" "0000528622" "0" "30" "6" "33131600" "33131600" "subst" "0.000929866" "01804" "COL11A2_000078" "g.33131600A>C" "" "" "" "COL11A2(NM_080679.2):c.4750-5T>G (p.?), COL11A2(NM_080680.2):c.5071-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33163823A>C" "" "likely benign" "" "0000528623" "0" "50" "6" "33132117" "33132117" "subst" "4.15476E-6" "02327" "COL11A2_000079" "g.33132117A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33164340A>G" "" "VUS" "" "0000528624" "0" "50" "6" "33132216" "33132216" "subst" "5.72195E-5" "02327" "COL11A2_000080" "g.33132216C>T" "" "" "" "COL11A2(NM_080680.3):c.4898G>A (p.(Gly1633Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33164439C>T" "" "VUS" "" "0000528625" "0" "30" "6" "33132230" "33132230" "subst" "0.00111747" "01943" "COL11A2_000081" "g.33132230C>G" "" "" "" "COL11A2(NM_080680.2):c.4884G>C (p.E1628D, p.(Glu1628Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33164453C>G" "" "likely benign" "" "0000528627" "0" "30" "6" "33133393" "33133393" "subst" "0.000901004" "02327" "COL11A2_000083" "g.33133393T>C" "" "" "" "COL11A2(NM_080680.2):c.4683A>G (p.T1561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33165616T>C" "" "likely benign" "" "0000528628" "0" "30" "6" "33133555" "33133555" "subst" "0.00165725" "02327" "COL11A2_000011" "g.33133555C>T" "" "" "" "COL11A2(NM_080680.2):c.4521G>A (p.Q1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33165778C>T" "" "likely benign" "" "0000528629" "0" "30" "6" "33133770" "33133770" "subst" "8.20183E-6" "01943" "COL11A2_000084" "g.33133770G>C" "" "" "" "COL11A2(NM_080680.2):c.4429-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33165993G>C" "" "likely benign" "" "0000528630" "0" "90" "6" "33134289" "33134289" "subst" "8.17595E-6" "02327" "COL11A2_000085" "g.33134289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33166512C>T" "" "pathogenic" "" "0000528631" "0" "30" "6" "33134840" "33134840" "dup" "0" "01804" "COL11A2_000086" "g.33134840dup" "" "" "" "COL11A2(NM_080679.2):c.3909+7dupG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33167063dup" "" "likely benign" "" "0000528632" "0" "90" "6" "33135040" "33135040" "subst" "0" "02327" "COL11A2_000087" "g.33135040C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33167263C>T" "" "pathogenic" "" "0000528633" "0" "30" "6" "33135616" "33135616" "subst" "0.000672802" "01943" "COL11A2_000088" "g.33135616G>A" "" "" "" "COL11A2(NM_080680.2):c.3974C>T (p.S1325L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33167839G>A" "" "likely benign" "" "0000528634" "0" "50" "6" "33136306" "33136306" "subst" "3.30671E-5" "01943" "COL11A2_000089" "g.33136306A>G" "" "" "" "COL11A2(NM_080679.2):c.3629T>C (p.(Leu1210Pro)), COL11A2(NM_080680.2):c.3950T>C (p.L1317P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33168529A>G" "" "VUS" "" "0000528637" "0" "50" "6" "33137184" "33137184" "subst" "4.15355E-6" "02327" "COL11A2_000091" "g.33137184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33169407G>A" "" "VUS" "" "0000528638" "0" "50" "6" "33137252" "33137252" "subst" "3.32085E-5" "01943" "COL11A2_000092" "g.33137252G>A" "" "" "" "COL11A2(NM_080680.2):c.3706C>T (p.R1236C), COL11A2(NM_080680.3):c.3706C>T (p.(Arg1236Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33169475G>A" "" "VUS" "" "0000528639" "0" "10" "6" "33137259" "33137259" "subst" "0.00444304" "02327" "COL11A2_000020" "g.33137259G>A" "" "" "" "COL11A2(NM_080680.2):c.3699C>T (p.R1233=), COL11A2(NM_080680.3):c.3699C>T (p.R1233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33169482G>A" "" "benign" "" "0000528640" "0" "30" "6" "33137664" "33137664" "subst" "4.06124E-6" "01943" "COL11A2_000093" "g.33137664G>A" "" "" "" "COL11A2(NM_080680.2):c.3637-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33169887G>A" "" "likely benign" "" "0000528641" "0" "50" "6" "33137838" "33137838" "subst" "8.68982E-5" "01943" "COL11A2_000094" "g.33137838G>A" "" "" "" "COL11A2(NM_080680.2):c.3622C>T (p.P1208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170061G>A" "" "VUS" "" "0000528642" "0" "50" "6" "33137838" "33137838" "subst" "8.68982E-5" "02327" "COL11A2_000094" "g.33137838G>A" "" "" "" "COL11A2(NM_080680.2):c.3622C>T (p.P1208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170061G>A" "" "VUS" "" "0000528643" "0" "10" "6" "33137845" "33137845" "subst" "0.00108021" "01943" "COL11A2_000095" "g.33137845G>T" "" "" "" "COL11A2(NM_080680.2):c.3615C>A (p.N1205K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170068G>T" "" "benign" "" "0000528644" "0" "30" "6" "33137882" "33137882" "subst" "0.000439051" "02329" "COL11A2_000075" "g.33137882A>G" "" "" "" "COL11A2(NM_080679.2):c.3262-5T>C (p.?), COL11A2(NM_080680.2):c.3583-5T>C, COL11A2(NM_080680.3):c.3583-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170105A>G" "" "likely benign" "" "0000528645" "0" "50" "6" "33138669" "33138669" "subst" "2.07484E-5" "02327" "COL11A2_000096" "g.33138669C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170892C>T" "" "VUS" "" "0000528646" "0" "10" "6" "33139328" "33139328" "subst" "0.448862" "02325" "COL11A2_000067" "g.33139328C>T" "" "" "" "COL11A2(NM_080680.3):c.3174G>A (p.P1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33171551C>T" "" "benign" "" "0000528647" "0" "10" "6" "33139328" "33139328" "subst" "0.448862" "02329" "COL11A2_000067" "g.33139328C>T" "" "" "" "COL11A2(NM_080680.3):c.3174G>A (p.P1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33171551C>T" "" "benign" "" "0000528648" "0" "10" "6" "33139529" "33139529" "subst" "0.0044892" "02327" "COL11A2_000028" "g.33139529C>A" "" "" "" "COL11A2(NM_080680.2):c.3111G>T (p.P1037=), COL11A2(NM_080680.3):c.3111G>T (p.P1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33171752C>A" "" "benign" "" "0000528649" "0" "30" "6" "33140133" "33140133" "subst" "0.000102299" "01943" "COL11A2_000097" "g.33140133G>A" "" "" "" "COL11A2(NM_080680.2):c.2921C>T (p.A974V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33172356G>A" "" "likely benign" "" "0000528650" "0" "50" "6" "33140133" "33140133" "subst" "0.000102299" "02327" "COL11A2_000097" "g.33140133G>A" "" "" "" "COL11A2(NM_080680.2):c.2921C>T (p.A974V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33172356G>A" "" "VUS" "" "0000528651" "0" "30" "6" "33141464" "33141464" "subst" "0.000109643" "02327" "COL11A2_000098" "g.33141464C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173687C>T" "" "likely benign" "" "0000528652" "0" "50" "6" "33141673" "33141673" "subst" "2.43673E-5" "02327" "COL11A2_000099" "g.33141673C>T" "" "" "" "COL11A2(NM_080680.2):c.2560G>A (p.A854T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173896C>T" "" "VUS" "" "0000528653" "0" "50" "6" "33141678" "33141678" "subst" "0.000158399" "01804" "COL11A2_000035" "g.33141678C>T" "" "" "" "COL11A2(NM_080679.2):c.2234G>A (p.(Arg745Gln)), COL11A2(NM_080680.2):c.2555G>A (p.R852Q), COL11A2(NM_080680.3):c.2555G>A (p.R852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173901C>T" "" "VUS" "" "0000528654" "0" "50" "6" "33141678" "33141678" "subst" "0.000158399" "02327" "COL11A2_000035" "g.33141678C>T" "" "" "" "COL11A2(NM_080679.2):c.2234G>A (p.(Arg745Gln)), COL11A2(NM_080680.2):c.2555G>A (p.R852Q), COL11A2(NM_080680.3):c.2555G>A (p.R852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173901C>T" "" "VUS" "" "0000528655" "0" "30" "6" "33143456" "33143456" "subst" "5.39854E-5" "01804" "COL11A2_000100" "g.33143456G>A" "" "" "" "COL11A2(NM_080679.2):c.1950C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33175679G>A" "" "likely benign" "" "0000528656" "0" "30" "6" "33144064" "33144064" "subst" "0.00079631" "01943" "COL11A2_000101" "g.33144064C>T" "" "" "" "COL11A2(NM_080680.2):c.2186G>A (p.R729Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33176287C>T" "" "likely benign" "" "0000528657" "0" "30" "6" "33144068" "33144068" "subst" "0.000173649" "01943" "COL11A2_000102" "g.33144068T>A" "" "" "" "COL11A2(NM_080680.2):c.2182A>T (p.I728F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33176291T>A" "" "likely benign" "" "0000528658" "0" "70" "6" "33144080" "33144080" "subst" "0" "01943" "COL11A2_000103" "g.33144080C>A" "" "" "" "COL11A2(NM_080680.2):c.2170G>T (p.G724C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33176303C>A" "" "likely pathogenic" "" "0000528659" "0" "50" "6" "33144212" "33144212" "subst" "0" "01804" "COL11A2_000104" "g.33144212T>C" "" "" "" "COL11A2(NM_080679.2):c.1846A>G (p.(Lys616Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33176435T>C" "" "VUS" "" "0000528660" "0" "30" "6" "33144827" "33144827" "subst" "0.0013099" "01943" "COL11A2_000105" "g.33144827A>C" "" "" "" "COL11A2(NM_080680.2):c.2017-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177050A>C" "" "likely benign" "" "0000528661" "0" "10" "6" "33146121" "33146121" "subst" "0.00692618" "02327" "COL11A2_000041" "g.33146121G>A" "" "" "" "COL11A2(NM_080680.2):c.1782C>T (p.D594=), COL11A2(NM_080680.3):c.1782C>T (p.D594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178344G>A" "" "benign" "" "0000528662" "0" "30" "6" "33146146" "33146146" "subst" "4.14625E-5" "02327" "COL11A2_000106" "g.33146146C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178369C>T" "" "likely benign" "" "0000528663" "0" "90" "6" "33146455" "33146455" "subst" "0" "01943" "COL11A2_000107" "g.33146455C>A" "" "" "" "COL11A2(NM_080680.2):c.1719+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178678C>A" "" "pathogenic" "" "0000528664" "0" "50" "6" "33146502" "33146502" "subst" "2.89709E-5" "02327" "COL11A2_000108" "g.33146502C>T" "" "" "" "COL11A2(NM_080680.3):c.1673G>A (p.(Arg558Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178725C>T" "" "VUS" "" "0000528665" "0" "30" "6" "33146760" "33146760" "subst" "0.00124568" "01943" "COL11A2_000109" "g.33146760C>G" "" "" "" "COL11A2(NM_080680.2):c.1612-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178983C>G" "" "likely benign" "" "0000528666" "0" "30" "6" "33146760" "33146760" "subst" "0.00124568" "02327" "COL11A2_000109" "g.33146760C>G" "" "" "" "COL11A2(NM_080680.2):c.1612-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178983C>G" "" "likely benign" "" "0000528667" "0" "70" "6" "33146849" "33146849" "subst" "0" "02327" "COL11A2_000110" "g.33146849C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33179072C>A" "" "likely pathogenic" "" "0000528668" "0" "50" "6" "33146902" "33146902" "subst" "0" "02327" "COL11A2_000111" "g.33146902C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33179125C>T" "" "VUS" "" "0000528669" "0" "50" "6" "33148764" "33148764" "subst" "4.06884E-6" "01943" "COL11A2_000112" "g.33148764G>T" "" "" "" "COL11A2(NM_080680.2):c.1198C>A (p.P400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33180987G>T" "" "VUS" "" "0000528670" "0" "50" "6" "33152068" "33152068" "subst" "3.25272E-5" "01943" "COL11A2_000113" "g.33152068C>T" "" "" "" "COL11A2(NM_080680.2):c.973G>A (p.D325N, p.(Asp325Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33184291C>T" "" "VUS" "" "0000528671" "0" "90" "6" "33152081" "33152081" "dup" "0" "01943" "COL11A2_000114" "g.33152081dup" "" "" "" "COL11A2(NM_080680.2):c.966dupC (p.T323Hfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33184304dup" "" "pathogenic" "" "0000528672" "0" "50" "6" "33152798" "33152798" "subst" "0" "02327" "COL11A2_000115" "g.33152798C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33185021C>G" "" "VUS" "" "0000528673" "0" "30" "6" "33154366" "33154366" "subst" "0.000698789" "01943" "COL11A2_000116" "g.33154366G>T" "" "" "" "COL11A2(NM_001163771.1):c.836C>A (p.P279H, p.(Pro279His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33186589G>T" "" "likely benign" "" "0000528674" "0" "30" "6" "33154451" "33154451" "subst" "0" "01804" "COL11A2_000117" "g.33154451G>T" "" "" "" "COL11A2(NM_001163771.1):c.751C>A (p.(Gln251Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33186674G>T" "" "likely benign" "" "0000528675" "0" "30" "6" "33154580" "33154580" "subst" "0.000113753" "02327" "COL11A2_000055" "g.33154580G>A" "" "" "" "COL11A2(NM_080680.2):c.622C>T (p.L208=), COL11A2(NM_080680.3):c.622C>T (p.L208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33186803G>A" "" "likely benign" "" "0000528676" "0" "50" "6" "33156764" "33156764" "subst" "3.66142E-5" "01943" "RXRB_000003" "g.33156764G>C" "" "" "" "COL11A2(NM_080680.2):c.434C>G (p.A145G), COL11A2(NM_080680.3):c.434C>G (p.A145G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33188987G>C" "" "VUS" "" "0000528677" "0" "50" "6" "33156845" "33156845" "subst" "0.00209572" "02327" "COL11A2_000058" "g.33156845C>G" "" "" "" "COL11A2(NM_001163771.1):c.353G>C (p.(Arg118Pro)), COL11A2(NM_080680.2):c.353G>C (p.R118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33189068C>G" "" "VUS" "" "0000528678" "0" "50" "6" "33156920" "33156920" "subst" "0" "01943" "RXRB_000004" "g.33156920C>T" "" "" "" "COL11A2(NM_080680.2):c.278G>A (p.R93H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33189143C>T" "" "VUS" "" "0000528679" "0" "30" "6" "33157099" "33157099" "subst" "0.000919012" "01804" "RXRB_000005" "g.33157099G>T" "" "" "" "COL11A2(NM_001163771.1):c.230C>A (p.(Pro77Gln)), COL11A2(NM_080680.2):c.230C>A (p.P77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33189322G>T" "" "likely benign" "" "0000528680" "0" "10" "6" "33160191" "33160191" "subst" "0" "02327" "RXRB_000006" "g.33160191G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33192414G>T" "" "benign" "" "0000610305" "0" "70" "6" "33135610" "33135610" "subst" "0" "02327" "COL11A2_000119" "g.33135610C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33167833C>A" "" "likely pathogenic" "" "0000610306" "0" "30" "6" "33138109" "33138109" "subst" "0.00107843" "01943" "COL11A2_000120" "g.33138109G>A" "" "" "" "COL11A2(NM_080680.2):c.3576C>T (p.G1192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170332G>A" "" "likely benign" "" "0000610307" "0" "90" "6" "33138132" "33138132" "subst" "0" "02327" "COL11A2_000121" "g.33138132G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170355G>A" "" "pathogenic" "" "0000610308" "0" "30" "6" "33138376" "33138376" "subst" "0" "01943" "COL11A2_000122" "g.33138376G>C" "" "" "" "COL11A2(NM_080680.2):c.3486C>G (p.G1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33170599G>C" "" "likely benign" "" "0000610309" "0" "10" "6" "33138955" "33138955" "subst" "0.743639" "01943" "COL11A2_000025" "g.33138955G>A" "" "" "" "COL11A2(NM_080680.2):c.3313-11C>T, COL11A2(NM_080680.3):c.3313-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33171178G>A" "" "benign" "" "0000610310" "0" "10" "6" "33139475" "33139475" "subst" "0.782779" "01943" "COL11A2_000027" "g.33139475T>G" "" "" "" "COL11A2(NM_080680.2):c.3150+15A>C, COL11A2(NM_080680.3):c.3150+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33171698T>G" "" "benign" "" "0000610311" "0" "10" "6" "33141161" "33141161" "subst" "0.789402" "01943" "COL11A2_000030" "g.33141161A>G" "" "" "" "COL11A2(NM_080680.2):c.2700T>C (p.D900=), COL11A2(NM_080680.3):c.2700T>C (p.D900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173384A>G" "" "benign" "" "0000610312" "0" "10" "6" "33141475" "33141475" "subst" "0.603361" "01943" "COL11A2_000033" "g.33141475C>T" "" "" "" "COL11A2(NM_080680.2):c.2628+3G>A, COL11A2(NM_080680.3):c.2628+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33173698C>T" "" "benign" "" "0000610313" "0" "10" "6" "33144243" "33144243" "subst" "0.484407" "01943" "COL11A2_000039" "g.33144243T>A" "" "" "" "COL11A2(NM_080680.2):c.2136A>T (p.G712=), COL11A2(NM_080680.3):c.2136A>T (p.G712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33176466T>A" "" "benign" "" "0000610314" "0" "30" "6" "33145972" "33145972" "subst" "0.000332687" "01943" "COL11A2_000125" "g.33145972C>T" "" "" "" "COL11A2(NM_080680.2):c.1819-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178195C>T" "" "likely benign" "" "0000610315" "0" "50" "6" "33146725" "33146725" "subst" "0.00020849" "01943" "COL11A2_000126" "g.33146725C>T" "" "" "" "COL11A2(NM_080680.2):c.1637G>A (p.R546Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33178948C>T" "" "VUS" "" "0000610316" "0" "10" "6" "33147589" "33147589" "subst" "0.999996" "01943" "COL11A2_000047" "g.33147589T>G" "" "" "" "COL11A2(NM_080680.2):c.1360-7A>C, COL11A2(NM_080680.3):c.1360-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33179812T>G" "" "benign" "" "0000610317" "0" "50" "6" "33148742" "33148742" "subst" "6.51434E-5" "01943" "COL11A2_000127" "g.33148742G>A" "" "" "" "COL11A2(NM_080680.2):c.1220C>T (p.A407V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33180965G>A" "" "VUS" "" "0000610318" "0" "70" "6" "33152081" "33152081" "dup" "0" "02327" "COL11A2_000114" "g.33152081dup" "" "" "" "COL11A2(NM_080680.2):c.966dupC (p.T323Hfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33184304dup" "" "likely pathogenic" "" "0000610319" "0" "50" "6" "33154337" "33154337" "subst" "4.0794E-6" "01943" "COL11A2_000128" "g.33154337G>A" "" "" "" "COL11A2(NM_001163771.1):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33186560G>A" "" "VUS" "" "0000621701" "0" "10" "6" "33134278" "33134278" "subst" "0.00518796" "02329" "COL11A2_000118" "g.33134278G>A" "" "" "" "COL11A2(NM_080680.3):c.4392+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33166501G>A" "" "benign" "" "0000621702" "0" "10" "6" "33141797" "33141797" "subst" "0.00503044" "02329" "COL11A2_000123" "g.33141797C>T" "" "" "" "COL11A2(NM_080680.3):c.2520G>A (p.R840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33174020C>T" "" "benign" "" "0000621703" "0" "10" "6" "33145018" "33145018" "subst" "0.0050508" "02329" "COL11A2_000124" "g.33145018G>A" "" "" "" "COL11A2(NM_080680.3):c.1972-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177241G>A" "" "benign" "" "0000640081" "1" "99" "6" "33133326" "33133326" "subst" "0" "00004" "COL11A2_000129" "g.33133326C>A" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165549C>A" "" "pathogenic" "" "0000640082" "1" "55" "6" "33133371" "33133371" "subst" "0" "00004" "COL11A2_000130" "g.33133371G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165594G>A" "" "VUS" "" "0000640083" "1" "33" "6" "33133393" "33133393" "subst" "0.000901004" "00004" "COL11A2_000083" "g.33133393T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165616T>C" "" "likely benign" "" "0000640084" "1" "99" "6" "33133476" "33133476" "subst" "2.46794E-5" "00004" "COL11A2_000131" "g.33133476G>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165699G>A" "" "pathogenic" "" "0000640085" "1" "11" "6" "33133555" "33133555" "subst" "0.00165725" "00004" "COL11A2_000011" "g.33133555C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165778C>T" "" "benign" "" "0000640086" "1" "55" "6" "33133581" "33133581" "subst" "4.08901E-6" "00004" "COL11A2_000132" "g.33133581C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165804C>T" "" "VUS" "" "0000640087" "1" "99" "6" "33133725" "33133725" "subst" "0" "00004" "COL11A2_000133" "g.33133725C>T" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33165948C>T" "" "pathogenic" "" "0000640088" "1" "99" "6" "33134289" "33134289" "subst" "8.17595E-6" "00004" "COL11A2_000085" "g.33134289C>T" "" "{DB:DVD}, {PMID:Robin 1993:20301479}, {PMID:Brunner 1994:7833911}, {PMID:Vikkula 1995:7859284}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33166512C>T" "" "pathogenic" "" "0000640089" "1" "99" "6" "33134513" "33134513" "subst" "0" "00004" "COL11A2_000134" "g.33134513C>T" "" "{DB:DVD}, {PMID:Pihlajamaa 1998:9805126}, {PMID:Giedion 1982:7153059}, {PMID:WEISSENBACHER 1964:14234962}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33166736C>T" "" "pathogenic" "" "0000640090" "1" "77" "6" "33134569" "33134569" "subst" "1.24478E-5" "00004" "COL11A2_000135" "g.33134569C>T" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33166792C>T" "" "likely pathogenic" "" "0000640091" "1" "33" "6" "33134871" "33134871" "subst" "8.12506E-6" "00004" "COL11A2_000016" "g.33134871G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33167094G>A" "" "likely benign" "" "0000640092" "1" "99" "6" "33135082" "33135082" "subst" "0" "00004" "COL11A2_000062" "g.33135082G>A" "" "{DB:DVD}, {PMID:Robin 1993:20301479}, {PMID:Vuoristo 2004:15372529}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33167305G>A" "" "pathogenic" "" "0000640093" "1" "99" "6" "33135599" "33135599" "subst" "0" "00004" "COL11A2_000136" "g.33135599G>A" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Harel 2005:15558753}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33167822G>A" "" "pathogenic" "" "0000640094" "3" "90" "6" "33135630" "33135630" "del" "0" "00006" "COL11A2_000137" "g.33135630del" "" "{PMID:Temtamy 2006:16637051}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33167853del" "" "pathogenic (recessive)" "" "0000640095" "1" "99" "6" "33136309" "33136320" "del" "0" "00004" "COL11A2_000138" "g.33136309_33136320del" "" "{DB:DVD}, {PMID:Iwasa 2015:25780254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33168532_33168543del" "" "pathogenic" "" "0000640096" "1" "99" "6" "33136339" "33136339" "subst" "0" "00004" "COL11A2_000064" "g.33136339C>T" "" "{DB:DVD}, {PMID:van Beelen 2012:22796475}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33168562C>T" "" "pathogenic" "" "0000640097" "1" "99" "6" "33136478" "33136478" "subst" "0" "00004" "COL11A2_000139" "g.33136478C>T" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33168701C>T" "" "pathogenic" "" "0000640098" "1" "33" "6" "33136511" "33136511" "subst" "1.86682E-5" "00004" "COL11A2_000140" "g.33136511C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33168734C>T" "" "likely benign" "" "0000640099" "1" "77" "6" "33137184" "33137184" "subst" "4.15355E-6" "00004" "COL11A2_000091" "g.33137184G>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33169407G>A" "" "likely pathogenic" "" "0000640100" "1" "55" "6" "33137838" "33137838" "subst" "8.68982E-5" "00004" "COL11A2_000094" "g.33137838G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33170061G>A" "" "VUS" "" "0000640101" "1" "55" "6" "33137880" "33137880" "subst" "3.3137E-5" "00004" "COL11A2_000141" "g.33137880G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33170103G>A" "" "VUS" "" "0000640102" "1" "99" "6" "33138669" "33138669" "subst" "2.07484E-5" "00004" "COL11A2_000096" "g.33138669C>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33170892C>T" "" "pathogenic" "" "0000640103" "1" "99" "6" "33138932" "33138932" "del" "0" "00004" "COL11A2_000142" "g.33138932del" "" "{DB:DVD}, {PMID:Tokgöz-Y?lmaz 2011:21208667}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33171155del" "" "pathogenic" "" "0000640104" "1" "99" "6" "33139046" "33139046" "dup" "0" "00004" "COL11A2_000143" "g.33139046dup" "" "{DB:DVD}, {PMID:Avcin 2008:18381781}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33171269dup" "" "pathogenic" "" "0000640105" "1" "99" "6" "33139540" "33139540" "subst" "0" "00004" "COL11A2_000068" "g.33139540G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:McGuirt 1999:10581026}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33171763G>A" "" "pathogenic" "" "0000640106" "1" "99" "6" "33139842" "33139842" "dup" "0" "00004" "COL11A2_000144" "g.33139842dup" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33172065dup" "" "pathogenic" "" "0000640107" "1" "99" "6" "33139854" "33139854" "subst" "0" "00004" "COL11A2_000145" "g.33139854T>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33172077T>A" "" "pathogenic" "" "0000640108" "1" "55" "6" "33140133" "33140133" "subst" "0.000102299" "00004" "COL11A2_000097" "g.33140133G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33172356G>A" "" "VUS" "" "0000640109" "1" "99" "6" "33140147" "33140155" "del" "0" "00004" "COL11A2_000146" "g.33140147_33140155del" "" "{DB:DVD}, {PMID:Tompson 2012:22246659}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33172370_33172378del" "" "pathogenic" "" "0000640110" "1" "99" "6" "33140864" "33140864" "del" "0" "00004" "COL11A2_000147" "g.33140864del" "" "{DB:DVD}, {PMID:Kayserili 2011:21204229}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173087del" "" "pathogenic" "" "0000640111" "1" "55" "6" "33140869" "33140869" "subst" "0" "00004" "COL11A2_000148" "g.33140869G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173092G>T" "" "VUS" "" "0000640112" "1" "55" "6" "33141168" "33141168" "subst" "4.18043E-6" "00004" "COL11A2_000149" "g.33141168C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173391C>T" "" "VUS" "" "0000640113" "1" "55" "6" "33141279" "33141279" "subst" "0.000217693" "00004" "COL11A2_000150" "g.33141279C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173502C>T" "" "VUS" "" "0000640114" "1" "99" "6" "33141299" "33141299" "subst" "0" "00004" "COL11A2_000151" "g.33141299G>T" "" "{DB:DVD}, {PMID:Chakchouk 2015:25633957}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173522G>T" "" "pathogenic" "" "0000640115" "1" "33" "6" "33141345" "33141345" "dup" "0" "00004" "COL11A2_000152" "g.33141345dup" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33173568dup" "" "likely benign" "" "0000640116" "1" "99" "6" "33141825" "33141825" "subst" "0" "00004" "COL11A2_000153" "g.33141825G>T" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33174048G>T" "" "pathogenic" "" "0000640117" "1" "99" "6" "33142311" "33142311" "subst" "0" "00004" "COL11A2_000154" "g.33142311C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:McGuirt 1999:10581026}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33174534C>T" "" "pathogenic" "" "0000640118" "1" "99" "6" "33142325" "33142328" "delins" "0" "00004" "COL11A2_000155" "g.33142325_33142328delinsTGATGGGTC" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33174548_33174551delinsTGATGGGTC" "" "pathogenic" "" "0000640119" "1" "77" "6" "33143792" "33143792" "subst" "0" "00004" "COL11A2_000156" "g.33143792C>A" "" "{DB:DVD}, {PMID:Miller 2010:20466091}, {PMID:Farwell 2015:25356970}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33176015C>A" "" "likely pathogenic" "" "0000640120" "1" "99" "6" "33144972" "33144972" "subst" "4.14914E-6" "00004" "COL11A2_000157" "g.33144972G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33177195G>A" "" "pathogenic" "" "0000640121" "1" "99" "6" "33144993" "33144993" "subst" "8.30062E-6" "00004" "COL11A2_000158" "g.33144993C>T" "" "{DB:DVD}, {PMID:van Steensel 1997:9188673}, {PMID:Vikkula 1995:7859284}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33177216C>T" "" "pathogenic" "" "0000640122" "1" "99" "6" "33145244" "33145244" "subst" "0" "00004" "COL11A2_000159" "g.33145244T>C" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33177467T>C" "" "pathogenic" "" "0000640123" "1" "55" "6" "33145904" "33145904" "subst" "0" "00004" "COL11A2_000160" "g.33145904C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178127C>T" "" "VUS" "" "0000640124" "1" "99" "6" "33145920" "33145920" "subst" "8.77677E-5" "00004" "COL11A2_000161" "g.33145920G>T" "" "{DB:DVD}, {PMID:Chen 2005:16033917}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178143G>T" "" "pathogenic" "" "0000640125" "1" "55" "6" "33146086" "33146086" "subst" "2.07402E-5" "00004" "COL11A2_000162" "g.33146086G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178309G>C" "" "VUS" "" "0000640126" "1" "99" "6" "33146453" "33146453" "dup" "0" "00004" "COL11A2_000163" "g.33146453dup" "" "{DB:DVD}, {PMID:Tompson 2012:22246659}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178676dup" "" "pathogenic" "" "0000640127" "1" "99" "6" "33146726" "33146726" "subst" "0" "00004" "COL11A2_000164" "g.33146726G>A" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178949G>A" "" "pathogenic" "" "0000640128" "1" "55" "6" "33146747" "33146747" "subst" "0.00113745" "00004" "COL11A2_000043" "g.33146747G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Jakkula 2005:15922184}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33178970G>A" "" "VUS" "" "0000640129" "1" "77" "6" "33146854" "33146854" "subst" "2.85249E-5" "00004" "COL11A2_000165" "g.33146854C>T" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33179077C>T" "" "likely pathogenic" "" "0000640130" "1" "55" "6" "33147515" "33147515" "subst" "0.000135116" "00004" "COL11A2_000166" "g.33147515G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33179738G>A" "" "VUS" "" "0000640131" "1" "99" "6" "33147579" "33147579" "subst" "9.04895E-5" "00004" "COL11A2_000167" "g.33147579G>A" "" "{DB:DVD}, {PMID:Melkoniemi 2003:12673280}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33179802G>A" "" "pathogenic" "" "0000640132" "1" "33" "6" "33148774" "33148774" "subst" "6.50703E-5" "00004" "COL11A2_000168" "g.33148774G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33180997G>A" "" "likely benign" "" "0000640133" "1" "99" "6" "33152081" "33152081" "dup" "0" "00004" "COL11A2_000114" "g.33152081dup" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33184304dup" "" "pathogenic" "" "0000640134" "1" "55" "6" "33154366" "33154366" "subst" "0.000698789" "00004" "COL11A2_000116" "g.33154366G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33186589G>T" "" "VUS" "" "0000640135" "1" "99" "6" "33154471" "33154471" "del" "0" "00004" "COL11A2_000169" "g.33154471del" "" "{DB:DVD}, {PMID:Melkoniemi 2000:10677296}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33186694del" "" "pathogenic" "" "0000640136" "1" "77" "6" "33154548" "33154548" "subst" "0" "00004" "COL11A2_000170" "g.33154548A>T" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33186771A>T" "" "likely pathogenic" "" "0000640137" "1" "99" "6" "33156216" "33156216" "subst" "1.24445E-5" "00004" "COL11A2_000171" "g.33156216G>A" "" "{DB:DVD}, {PMID:Melkoniemi 2003:12673280}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33188439G>A" "" "pathogenic" "" "0000640138" "1" "55" "6" "33156810" "33156810" "subst" "4.06266E-5" "00004" "COL11A2_000172" "g.33156810G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33189033G>A" "" "VUS" "" "0000640139" "1" "99" "6" "33157220" "33157220" "subst" "0" "00004" "COL11A2_000173" "g.33157220C>A" "" "{DB:DVD}, {PMID:Chakchouk 2015:25633957}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.33189443C>A" "" "pathogenic" "" "0000647119" "0" "50" "6" "33147560" "33147560" "subst" "0.000520159" "01164" "COL11A2_000174" "g.33147560C>T" "" "" "" "" "" "Germline" "" "rs141140798" "0" "" "" "g.33179783C>T" "" "VUS" "ACMG" "0000651941" "1" "30" "6" "33131501" "33131501" "subst" "0.020367" "03575" "COL11A2_000003" "g.33131501G>A" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous; {DB:CLININrs2229792}" "Germline" "" "rs2229792" "0" "" "" "g.33163724G>A" "" "likely benign" "" "0000651942" "1" "10" "6" "33136310" "33136310" "subst" "0.0344903" "03575" "COL11A2_000019" "g.33136310G>T" "111/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "111 heterozygous; {DB:CLININrs2229784}" "Germline" "" "rs2229784" "0" "" "" "g.33168533G>T" "" "benign" "" "0000651943" "1" "90" "6" "33141825" "33141825" "subst" "8.17474E-5" "03575" "COL11A2_000175" "g.33141825G>A" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121912949.1}" "Germline" "" "rs121912949" "0" "" "" "g.33174048G>A" "" "pathogenic" "" "0000651944" "1" "50" "6" "33146747" "33146747" "subst" "0.00113745" "03575" "COL11A2_000043" "g.33146747G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs145499142}" "Germline" "" "rs145499142" "0" "" "" "g.33178970G>A" "" "VUS" "" "0000651945" "1" "50" "6" "33146854" "33146854" "subst" "2.85249E-5" "03575" "COL11A2_000165" "g.33146854C>T" "2/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous; {DB:CLININrs770888294.1}" "Germline" "" "rs770888294" "0" "" "" "g.33179077C>T" "" "VUS" "" "0000651946" "1" "50" "6" "33154514" "33154514" "subst" "0.000743117" "03575" "COL11A2_000176" "g.33154514C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs141430703}" "Germline" "" "rs141430703" "0" "" "" "g.33186737C>A" "" "VUS" "" "0000655574" "0" "50" "6" "33131538" "33131538" "subst" "0" "01943" "COL11A2_000177" "g.33131538C>G" "" "" "" "COL11A2(NM_080680.2):c.5128G>C (p.V1710L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33163761C>G" "" "VUS" "" "0000655575" "0" "30" "6" "33133393" "33133393" "subst" "0.000901004" "01943" "COL11A2_000083" "g.33133393T>C" "" "" "" "COL11A2(NM_080680.2):c.4683A>G (p.T1561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33165616T>C" "" "likely benign" "" "0000655576" "0" "30" "6" "33135269" "33135269" "subst" "6.75322E-5" "01943" "COL11A2_000178" "g.33135269C>T" "" "" "" "COL11A2(NM_080680.2):c.4056G>A (p.P1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33167492C>T" "" "likely benign" "" "0000655577" "0" "90" "6" "33136731" "33136731" "subst" "0" "02327" "COL11A2_000179" "g.33136731C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33168954C>T" "" "pathogenic" "" "0000655578" "0" "50" "6" "33145480" "33145480" "subst" "1.66026E-5" "02327" "COL11A2_000180" "g.33145480C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177703C>T" "" "VUS" "" "0000669908" "3" "30" "6" "33131501" "33131501" "subst" "0.020367" "03575" "COL11A2_000003" "g.33131501G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs2229792}" "Germline" "" "rs2229792" "0" "" "" "g.33163724G>A" "" "likely benign" "" "0000669909" "3" "10" "6" "33136310" "33136310" "subst" "0.0344903" "03575" "COL11A2_000019" "g.33136310G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs2229784}" "Germline" "" "rs2229784" "0" "" "" "g.33168533G>T" "" "benign" "" "0000669910" "3" "50" "6" "33146854" "33146854" "subst" "2.85249E-5" "03575" "COL11A2_000165" "g.33146854C>T" "1/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs770888294.1}" "Germline" "" "rs770888294" "0" "" "" "g.33179077C>T" "" "VUS" "" "0000677747" "0" "30" "6" "33131506" "33131506" "subst" "0.000296671" "01943" "COL11A2_000181" "g.33131506G>C" "" "" "" "COL11A2(NM_080680.2):c.5160C>G (p.A1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677748" "0" "30" "6" "33131593" "33131593" "subst" "1.67494E-5" "01943" "COL11A2_000182" "g.33131593T>G" "" "" "" "COL11A2(NM_080680.2):c.5073A>C (p.T1691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677749" "0" "50" "6" "33136306" "33136306" "subst" "3.30671E-5" "02327" "COL11A2_000089" "g.33136306A>G" "" "" "" "COL11A2(NM_080679.2):c.3629T>C (p.(Leu1210Pro)), COL11A2(NM_080680.2):c.3950T>C (p.L1317P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677750" "0" "50" "6" "33137209" "33137209" "subst" "8.30082E-6" "01943" "COL11A2_000183" "g.33137209G>A" "" "" "" "COL11A2(NM_080680.2):c.3749C>T (p.P1250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677751" "0" "70" "6" "33142311" "33142311" "subst" "0" "02327" "COL11A2_000154" "g.33142311C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677753" "0" "30" "6" "33146747" "33146747" "subst" "0.00113745" "01804" "COL11A2_000043" "g.33146747G>A" "" "" "" "COL11A2(NM_080679.2):c.1294C>T (p.(Arg432Trp)), COL11A2(NM_080680.2):c.1615C>T (p.R539W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677754" "0" "30" "6" "33153541" "33153541" "subst" "0.000162048" "01943" "COL11A2_000184" "g.33153541G>A" "" "" "" "COL11A2(NM_080680.2):c.813C>T (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677755" "0" "50" "6" "33156779" "33156779" "subst" "0" "01943" "RXRB_000007" "g.33156779C>T" "" "" "" "COL11A2(NM_080680.2):c.419G>A (p.R140Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677756" "0" "30" "6" "33156907" "33156907" "subst" "1.62463E-5" "01943" "RXRB_000008" "g.33156907T>C" "" "" "" "COL11A2(NM_080680.2):c.291A>G (p.Q97=), COL11A2(NM_080680.3):c.291A>G (p.(Gln97=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687722" "0" "90" "6" "33134289" "33134289" "subst" "8.17595E-6" "02544" "COL11A2_000085" "g.33134289C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000689714" "0" "90" "6" "33134846" "33134846" "subst" "0" "02327" "COL11A2_000185" "g.33134846C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689715" "0" "10" "6" "33137259" "33137259" "subst" "0.00444304" "02329" "COL11A2_000020" "g.33137259G>A" "" "" "" "COL11A2(NM_080680.2):c.3699C>T (p.R1233=), COL11A2(NM_080680.3):c.3699C>T (p.R1233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689716" "0" "10" "6" "33139529" "33139529" "subst" "0.0044892" "02329" "COL11A2_000028" "g.33139529C>A" "" "" "" "COL11A2(NM_080680.2):c.3111G>T (p.P1037=), COL11A2(NM_080680.3):c.3111G>T (p.P1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689717" "0" "50" "6" "33140890" "33140890" "subst" "0" "02327" "COL11A2_000186" "g.33140890C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689718" "0" "50" "6" "33152068" "33152068" "subst" "3.25272E-5" "01804" "COL11A2_000113" "g.33152068C>T" "" "" "" "COL11A2(NM_080680.2):c.973G>A (p.D325N, p.(Asp325Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689719" "0" "50" "6" "33152819" "33152819" "subst" "0.000107331" "01943" "COL11A2_000187" "g.33152819C>T" "" "" "" "COL11A2(NM_080680.2):c.889G>A (p.G297S), COL11A2(NM_080680.3):c.889G>A (p.(Gly297Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689720" "0" "90" "6" "33153545" "33153546" "del" "0" "01943" "COL11A2_000188" "g.33153545_33153546del" "" "" "" "COL11A2(NM_080680.2):c.813_814delCT (p.Y272Lfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720875" "0" "30" "6" "33131602" "33131602" "subst" "7.95952E-5" "02327" "COL11A2_000005" "g.33131602G>C" "" "" "" "COL11A2(NM_080680.2):c.5071-7C>G, COL11A2(NM_080680.3):c.5071-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720876" "0" "30" "6" "33132114" "33132114" "subst" "0.00191561" "01804" "COL11A2_000006" "g.33132114C>T" "" "" "" "COL11A2(NM_080679.2):c.4679G>A (p.(Arg1560His)), COL11A2(NM_080680.2):c.5000G>A (p.R1667H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720877" "0" "50" "6" "33133708" "33133708" "subst" "0" "01943" "COL11A2_000189" "g.33133708C>T" "" "" "" "COL11A2(NM_080680.2):c.4482G>A (p.P1494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720878" "0" "10" "6" "33133732" "33133732" "subst" "0.00277329" "02329" "COL11A2_000012" "g.33133732A>T" "" "" "" "COL11A2(NM_080680.2):c.4458T>A (p.G1486=), COL11A2(NM_080680.3):c.4458T>A (p.G1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720879" "0" "30" "6" "33134290" "33134290" "subst" "2.45132E-5" "01943" "COL11A2_000190" "g.33134290G>A" "" "" "" "COL11A2(NM_080680.2):c.4392C>T (p.P1464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720880" "0" "50" "6" "33138928" "33138928" "subst" "1.80558E-5" "02327" "COL11A2_000191" "g.33138928G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720881" "0" "50" "6" "33139329" "33139329" "subst" "3.66826E-5" "02327" "COL11A2_000192" "g.33139329G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720882" "0" "30" "6" "33140418" "33140418" "subst" "0" "02325" "COL11A2_000193" "g.33140418G>T" "" "" "" "COL11A2(NM_080680.3):c.2791-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720883" "0" "50" "6" "33141673" "33141673" "subst" "2.43673E-5" "01943" "COL11A2_000099" "g.33141673C>T" "" "" "" "COL11A2(NM_080680.2):c.2560G>A (p.A854T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720884" "0" "50" "6" "33141678" "33141678" "subst" "0.000158399" "01943" "COL11A2_000035" "g.33141678C>T" "" "" "" "COL11A2(NM_080679.2):c.2234G>A (p.(Arg745Gln)), COL11A2(NM_080680.2):c.2555G>A (p.R852Q), COL11A2(NM_080680.3):c.2555G>A (p.R852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720885" "0" "50" "6" "33141952" "33141952" "subst" "0" "01943" "COL11A2_000195" "g.33141952T>G" "" "" "" "COL11A2(NM_080680.2):c.2474A>C (p.K825T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720886" "0" "30" "6" "33143785" "33143785" "subst" "7.86209E-5" "01943" "COL11A2_000196" "g.33143785C>T" "" "" "" "COL11A2(NM_080680.2):c.2268+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720887" "0" "30" "6" "33145432" "33145432" "subst" "0" "01943" "COL11A2_000197" "g.33145432C>T" "" "" "" "COL11A2(NM_080680.2):c.1917+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720888" "0" "50" "6" "33147560" "33147560" "subst" "0.000520159" "01804" "COL11A2_000174" "g.33147560C>T" "" "" "" "COL11A2(NM_080679.2):c.1061G>A (p.(Gly354Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720889" "0" "50" "6" "33147562" "33147562" "subst" "0" "01943" "COL11A2_000199" "g.33147562C>T" "" "" "" "COL11A2(NM_080680.2):c.1380G>A (p.G460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720890" "0" "50" "6" "33147579" "33147579" "subst" "9.04895E-5" "01943" "COL11A2_000167" "g.33147579G>A" "" "" "" "COL11A2(NM_080680.2):c.1363C>T (p.R455W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720891" "0" "30" "6" "33154580" "33154580" "subst" "0.000113753" "01943" "COL11A2_000055" "g.33154580G>A" "" "" "" "COL11A2(NM_080680.2):c.622C>T (p.L208=), COL11A2(NM_080680.3):c.622C>T (p.L208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720892" "0" "50" "6" "33156206" "33156206" "subst" "7.88166E-5" "01943" "COL11A2_000200" "g.33156206C>T" "" "" "" "COL11A2(NM_080680.2):c.539G>A (p.R180H), COL11A2(NM_080680.3):c.539G>A (p.(Arg180His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729866" "3" "90" "6" "33146096" "33146096" "dup" "0" "00000" "COL11A2_000198" "g.33146096dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080681.2:c.1550dupC:p.(Gly518Trpfs*132)" "" "Germline" "" "" "0" "" "" "g.33178319dup" "" "likely pathogenic (recessive)" "" "0000729867" "3" "90" "6" "33140872" "33140872" "subst" "0" "00000" "COL11A2_000194" "g.33140872C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080681.2:c.2497G>C:p.(Gly833Arg)" "" "Germline" "" "" "0" "" "" "g.33173095C>G" "" "likely pathogenic (recessive)" "" "0000759998" "0" "50" "6" "33156810" "33156810" "subst" "4.06266E-5" "00000" "COL11A2_000172" "g.33156810G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.33189033G>A" "" "VUS" "" "0000787240" "0" "50" "6" "33148060" "33148060" "subst" "0" "00006" "COL11A2_000202" "g.33148060G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.33180283G>A" "" "VUS" "" "0000787780" "3" "70" "6" "33143807" "33143807" "subst" "0.000132462" "00006" "COL11A2_000201" "g.33143807C>T" "" "{PMID:Ververi 2018:28692176}" "" "NM_080681.2:c.1996G>A" "" "Germline" "" "" "0" "" "" "g.33176030C>T" "" "likely pathogenic" "" "0000802542" "0" "30" "6" "33132632" "33132632" "subst" "0.000200521" "01943" "COL11A2_000203" "g.33132632C>T" "" "" "" "COL11A2(NM_080680.2):c.4860G>A (p.T1620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802543" "0" "30" "6" "33133424" "33133424" "subst" "0.000510825" "02325" "COL11A2_000009" "g.33133424C>T" "" "" "" "COL11A2(NM_080680.2):c.4652G>A (p.R1551Q), COL11A2(NM_080680.3):c.4652G>A (p.(Arg1551Gln), p.R1551Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802544" "0" "70" "6" "33133734" "33133734" "subst" "0" "02327" "COL11A2_000204" "g.33133734C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802545" "0" "30" "6" "33135245" "33135245" "subst" "0.000176783" "01943" "COL11A2_000205" "g.33135245C>T" "" "" "" "COL11A2(NM_080680.2):c.4080G>A (p.G1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802546" "0" "50" "6" "33136319" "33136319" "subst" "2.06554E-5" "01943" "COL11A2_000206" "g.33136319G>C" "" "" "" "COL11A2(NM_080680.2):c.3937C>G (p.P1313A), COL11A2(NM_080680.3):c.3937C>G (p.P1313A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802547" "0" "30" "6" "33140900" "33140900" "subst" "0.000230635" "01943" "COL11A2_000207" "g.33140900G>A" "" "" "" "COL11A2(NM_080680.2):c.2737-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802548" "0" "30" "6" "33144063" "33144063" "subst" "9.54886E-5" "01943" "COL11A2_000208" "g.33144063C>G" "" "" "" "COL11A2(NM_080680.2):c.2187G>C (p.R729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802549" "0" "30" "6" "33152826" "33152826" "subst" "7.37928E-5" "01943" "COL11A2_000209" "g.33152826G>A" "" "" "" "COL11A2(NM_080680.2):c.882C>T (p.P294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802550" "0" "30" "6" "33154366" "33154366" "subst" "0.000698789" "01804" "COL11A2_000116" "g.33154366G>T" "" "" "" "COL11A2(NM_001163771.1):c.836C>A (p.P279H, p.(Pro279His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802551" "0" "30" "6" "33154496" "33154496" "subst" "0.00034515" "01943" "COL11A2_000210" "g.33154496G>A" "" "" "" "COL11A2(NM_080680.2):c.706C>T (p.P236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802552" "0" "50" "6" "33156158" "33156158" "subst" "4.97781E-5" "02325" "COL11A2_000211" "g.33156158A>G" "" "" "" "COL11A2(NM_080680.3):c.587T>C (p.L196P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802553" "0" "30" "6" "33156845" "33156845" "subst" "0.00209572" "01804" "COL11A2_000058" "g.33156845C>G" "" "" "" "COL11A2(NM_001163771.1):c.353G>C (p.(Arg118Pro)), COL11A2(NM_080680.2):c.353G>C (p.R118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802554" "0" "50" "6" "33160013" "33160013" "subst" "5.93175E-5" "01943" "RXRB_000009" "g.33160013T>C" "" "" "" "COL11A2(NM_080680.2):c.5A>G (p.E2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830853" "0" "70" "6" "33143391" "33143391" "subst" "0.00260732" "00006" "COL11A2_000037" "g.33143391G>A" "" "{PMID:Choi 2013:23990876}" "" "c.C2336T" "rs150877886" "Germline" "" "" "0" "" "" "g.33175614G>A" "" "likely pathogenic (dominant)" "" "0000832672" "0" "50" "6" "33140872" "33140872" "subst" "8.35785E-6" "03779" "COL11A2_000212" "g.33140872C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs956025660" "0" "" "" "" "" "VUS" "" "0000841192" "0" "50" "6" "33145920" "33145920" "subst" "8.77677E-5" "03779" "COL11A2_000161" "g.33145920G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs121912952" "0" "" "" "" "" "VUS" "" "0000851193" "0" "50" "6" "33133539" "33133539" "subst" "2.04464E-5" "01943" "COL11A2_000213" "g.33133539G>A" "" "" "" "COL11A2(NM_080680.2):c.4537C>T (p.R1513W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851194" "0" "50" "6" "33138892" "33138892" "subst" "6.93607E-5" "01943" "COL11A2_000216" "g.33138892G>A" "" "" "" "COL11A2(NM_080680.2):c.3365C>T (p.A1122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851195" "0" "10" "6" "33145018" "33145018" "subst" "0.0050508" "02326" "COL11A2_000124" "g.33145018G>A" "" "" "" "COL11A2(NM_080680.3):c.1972-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851196" "0" "30" "6" "33156869" "33156869" "subst" "0.000389895" "01804" "RXRB_000010" "g.33156869C>T" "" "" "" "COL11A2(NM_001163771.1):c.329G>A (p.(Arg110Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851197" "0" "30" "6" "33157179" "33157179" "subst" "4.1446E-6" "01943" "RXRB_000011" "g.33157179C>T" "" "" "" "COL11A2(NM_080680.2):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860311" "0" "50" "6" "33131600" "33131600" "subst" "0.000929866" "01943" "COL11A2_000078" "g.33131600A>C" "" "" "" "COL11A2(NM_080679.2):c.4750-5T>G (p.?), COL11A2(NM_080680.2):c.5071-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860312" "0" "50" "6" "33133743" "33133743" "subst" "0" "02327" "COL11A2_000214" "g.33133743C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860313" "0" "50" "6" "33136752" "33136752" "subst" "0" "02327" "COL11A2_000215" "g.33136752G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860314" "0" "30" "6" "33137882" "33137882" "subst" "0.000439051" "01804" "COL11A2_000075" "g.33137882A>G" "" "" "" "COL11A2(NM_080679.2):c.3262-5T>C (p.?), COL11A2(NM_080680.2):c.3583-5T>C, COL11A2(NM_080680.3):c.3583-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860315" "0" "30" "6" "33140870" "33140870" "subst" "0.000927179" "01943" "COL11A2_000217" "g.33140870G>A" "" "" "" "COL11A2(NM_080680.2):c.2757C>T (p.G919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860316" "0" "50" "6" "33146725" "33146725" "subst" "0.00020849" "02327" "COL11A2_000126" "g.33146725C>T" "" "" "" "COL11A2(NM_080680.2):c.1637G>A (p.R546Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860317" "0" "90" "6" "33154385" "33154385" "del" "0" "01943" "COL11A2_000218" "g.33154385del" "" "" "" "COL11A2(NM_001163771.1):c.821delC (p.P274Qfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860318" "0" "50" "6" "33157099" "33157099" "subst" "0.000919012" "01943" "RXRB_000005" "g.33157099G>T" "" "" "" "COL11A2(NM_001163771.1):c.230C>A (p.(Pro77Gln)), COL11A2(NM_080680.2):c.230C>A (p.P77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871592" "0" "50" "6" "33145238" "33145238" "subst" "0" "03779" "COL11A2_000219" "g.33145238G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000880973" "0" "50" "6" "33133730" "33133730" "subst" "0" "03779" "COL11A2_000220" "g.33133730A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000887205" "0" "30" "6" "33136306" "33136306" "subst" "3.30671E-5" "01804" "COL11A2_000089" "g.33136306A>G" "" "" "" "COL11A2(NM_080679.2):c.3629T>C (p.(Leu1210Pro)), COL11A2(NM_080680.2):c.3950T>C (p.L1317P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887206" "0" "50" "6" "33136319" "33136319" "subst" "2.06554E-5" "02325" "COL11A2_000206" "g.33136319G>C" "" "" "" "COL11A2(NM_080680.2):c.3937C>G (p.P1313A), COL11A2(NM_080680.3):c.3937C>G (p.P1313A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887207" "0" "50" "6" "33137838" "33137838" "subst" "4.55181E-5" "02327" "COL11A2_000221" "g.33137838G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887208" "0" "50" "6" "33140094" "33140094" "subst" "0" "02325" "COL11A2_000222" "g.33140094G>A" "" "" "" "COL11A2(NM_080680.3):c.2960C>T (p.(Pro987Leu), p.P987L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887209" "0" "50" "6" "33141177" "33141177" "subst" "3.75984E-5" "02327" "COL11A2_000031" "g.33141177C>G" "" "" "" "COL11A2(NM_080680.3):c.2684G>C (p.G895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887210" "0" "50" "6" "33148889" "33148889" "subst" "0.000178676" "01804" "COL11A2_000223" "g.33148889G>A" "" "" "" "COL11A2(NM_080679.2):c.857C>T (p.(Pro286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887211" "0" "90" "6" "33152768" "33152768" "subst" "1.34252E-5" "02325" "COL11A2_000224" "g.33152768C>T" "" "" "" "COL11A2(NM_080680.3):c.939+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887212" "0" "50" "6" "33156261" "33156261" "subst" "0" "01804" "COL11A2_000225" "g.33156261T>A" "" "" "" "COL11A2(NM_001163771.1):c.484A>T (p.(Thr162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912482" "0" "50" "6" "33134570" "33134570" "subst" "0.000958968" "02325" "COL11A2_000226" "g.33134570G>A" "" "" "" "COL11A2(NM_080680.3):c.4265C>T (p.P1422L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918871" "0" "50" "6" "33141789" "33141789" "subst" "6.50645E-5" "04136" "COL11A2_000228" "g.33141789G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33174012G>A" "" "VUS" "" "0000918872" "0" "50" "6" "33147579" "33147579" "subst" "9.04895E-5" "04136" "COL11A2_000167" "g.33147579G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33179802G>A" "" "VUS" "" "0000918876" "0" "50" "6" "33144770" "33144770" "subst" "5.52388E-5" "04136" "COL11A2_000229" "g.33144770G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33176993G>A" "" "VUS" "" "0000918886" "0" "70" "6" "33138132" "33138132" "subst" "0" "04136" "COL11A2_000121" "g.33138132G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33170355G>A" "" "likely pathogenic" "" "0000918893" "0" "50" "6" "33151978" "33151978" "subst" "1.62538E-5" "04136" "COL11A2_000230" "g.33151978G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33184201G>A" "" "VUS" "" "0000918897" "0" "50" "6" "33140384" "33140384" "subst" "8.3091E-6" "04136" "COL11A2_000227" "g.33140384C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33172607C>T" "" "VUS" "" "0000918910" "0" "50" "6" "33140384" "33140384" "subst" "8.3091E-6" "04136" "COL11A2_000227" "g.33140384C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33172607C>T" "" "VUS" "" "0000924489" "0" "30" "6" "33132638" "33132638" "subst" "0.000206989" "01804" "COL11A2_000231" "g.33132638G>C" "" "" "" "COL11A2(NM_080679.2):c.4533C>G (p.(Asp1511Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924490" "0" "30" "6" "33143391" "33143391" "subst" "0.00260732" "01804" "COL11A2_000037" "g.33143391G>A" "" "" "" "COL11A2(NM_080679.2):c.2015C>T (p.(Pro672Leu)), COL11A2(NM_080680.2):c.2336C>T (p.P779L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929174" "0" "50" "6" "33139548" "33139548" "subst" "7.07614E-5" "02325" "COL11A2_000232" "g.33139548G>A" "" "" "" "COL11A2(NM_080680.3):c.3092C>T (p.P1031L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944357" "0" "70" "6" "33133536" "33133536" "subst" "0" "00006" "COL11A2_000233" "g.33133536G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33165759G>A" "" "likely pathogenic (dominant)" "" "0000944391" "0" "90" "6" "33141822" "33141822" "subst" "4.90104E-5" "00006" "COL11A2_000234" "g.33141822C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.33174045C>T" "" "VUS" "" "0000944451" "0" "90" "6" "33147222" "33147222" "subst" "0" "00006" "COL11A2_000046" "g.33147222G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.33179445G>A" "" "VUS" "" "0000948700" "0" "50" "6" "33131585" "33131585" "subst" "0" "02327" "COL11A2_000235" "g.33131585C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964126" "0" "50" "6" "33137261" "33137261" "subst" "2.07622E-5" "01804" "COL11A2_000236" "g.33137261G>A" "" "" "" "COL11A2(NM_080679.2):c.3376C>T (p.(Arg1126Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964127" "0" "50" "6" "33137651" "33137651" "subst" "0" "02327" "COL11A2_000237" "g.33137651C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964128" "0" "30" "6" "33138159" "33138159" "subst" "3.67698E-5" "02325" "COL11A2_000238" "g.33138159G>A" "" "" "" "COL11A2(NM_080680.3):c.3529-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977196" "0" "50" "6" "33132712" "33132712" "subst" "0" "01804" "COL11A2_000239" "g.33132712A>T" "" "" "" "COL11A2(NM_080680.3):c.4780T>A (p.(Cys1594Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977197" "0" "50" "6" "33137252" "33137252" "subst" "3.32085E-5" "01804" "COL11A2_000092" "g.33137252G>A" "" "" "" "COL11A2(NM_080680.2):c.3706C>T (p.R1236C), COL11A2(NM_080680.3):c.3706C>T (p.(Arg1236Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977198" "0" "50" "6" "33140094" "33140094" "subst" "0" "01804" "COL11A2_000222" "g.33140094G>A" "" "" "" "COL11A2(NM_080680.3):c.2960C>T (p.(Pro987Leu), p.P987L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977199" "0" "30" "6" "33140340" "33140340" "subst" "0" "01804" "COL11A2_000240" "g.33140340T>A" "" "" "" "COL11A2(NM_080680.3):c.2865A>T (p.(Gly955=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977200" "0" "50" "6" "33146086" "33146086" "subst" "2.07402E-5" "01804" "COL11A2_000162" "g.33146086G>C" "" "" "" "COL11A2(NM_080680.3):c.1817C>G (p.(Ser606Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977201" "0" "30" "6" "33146141" "33146143" "del" "0" "01804" "COL11A2_000241" "g.33146141_33146143del" "" "" "" "COL11A2(NM_080680.3):c.1774-5_1774-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977202" "0" "50" "6" "33148067" "33148067" "subst" "0" "01804" "COL11A2_000242" "g.33148067G>C" "" "" "" "COL11A2(NM_080680.3):c.1327C>G (p.(Pro443Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977203" "0" "50" "6" "33156907" "33156907" "subst" "1.62463E-5" "01804" "RXRB_000008" "g.33156907T>C" "" "" "" "COL11A2(NM_080680.2):c.291A>G (p.Q97=), COL11A2(NM_080680.3):c.291A>G (p.(Gln97=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995712" "0" "50" "6" "33132181" "33132181" "subst" "1.35913E-5" "01804" "COL11A2_000243" "g.33132181C>A" "" "" "" "COL11A2(NM_080680.2):c.4933G>T (p.(Val1645Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995713" "0" "30" "6" "33132230" "33132230" "subst" "0.00111747" "01804" "COL11A2_000081" "g.33132230C>G" "" "" "" "COL11A2(NM_080680.2):c.4884G>C (p.E1628D, p.(Glu1628Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995714" "0" "50" "6" "33132660" "33132660" "subst" "0" "01804" "COL11A2_000244" "g.33132660G>T" "" "" "" "COL11A2(NM_080680.2):c.4832C>A (p.(Thr1611Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995715" "0" "50" "6" "33134507" "33134507" "subst" "0" "01804" "COL11A2_000245" "g.33134507T>A" "" "" "" "COL11A2(NM_080680.2):c.4328A>T (p.(Lys1443Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995716" "0" "50" "6" "33134875" "33134875" "subst" "2.84354E-5" "01804" "COL11A2_000246" "g.33134875C>T" "" "" "" "COL11A2(NM_080680.2):c.4202G>A (p.(Arg1401Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995717" "0" "30" "6" "33135590" "33135590" "subst" "2.49194E-5" "01804" "COL11A2_000247" "g.33135590C>G" "" "" "" "COL11A2(NM_080680.2):c.4000G>C (p.(Gly1334Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995718" "0" "50" "6" "33140362" "33140362" "subst" "1.2467E-5" "01804" "COL11A2_000248" "g.33140362G>A" "" "" "" "COL11A2(NM_080680.2):c.2843C>T (p.(Pro948Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995719" "0" "50" "6" "33141314" "33141314" "subst" "2.10273E-5" "01804" "COL11A2_000249" "g.33141314C>T" "" "" "" "COL11A2(NM_080680.2):c.2647G>A (p.(Gly883Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995720" "0" "50" "6" "33141486" "33141486" "subst" "0" "02327" "COL11A2_000250" "g.33141486C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995721" "0" "50" "6" "33144501" "33144501" "subst" "0" "01804" "COL11A2_000251" "g.33144501G>C" "" "" "" "COL11A2(NM_080680.2):c.2112C>G (p.(Asn704Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995722" "0" "50" "6" "33148067" "33148067" "subst" "0" "01804" "COL11A2_000252" "g.33148067G>A" "" "" "" "COL11A2(NM_080680.2):c.1327C>T (p.(Pro443Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995723" "0" "30" "6" "33152794" "33152794" "subst" "1.34187E-5" "01804" "COL11A2_000253" "g.33152794G>A" "" "" "" "COL11A2(NM_080680.2):c.914C>T (p.(Ser305Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995724" "0" "50" "6" "33154348" "33154348" "subst" "0" "01804" "COL11A2_000254" "g.33154348G>A" "" "" "" "COL11A2(NM_001163771.1):c.854C>T (p.(Pro285Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025222" "0" "30" "6" "33142018" "33142018" "del" "0" "02329" "COL11A2_000070" "g.33142018del" "" "" "" "COL11A2(NM_080680.3):c.2431-18delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035712" "0" "30" "6" "33131602" "33131602" "subst" "7.95952E-5" "01804" "COL11A2_000005" "g.33131602G>C" "" "" "" "COL11A2(NM_080680.2):c.5071-7C>G, COL11A2(NM_080680.3):c.5071-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035713" "0" "50" "6" "33132216" "33132216" "subst" "5.72195E-5" "01804" "COL11A2_000080" "g.33132216C>T" "" "" "" "COL11A2(NM_080680.3):c.4898G>A (p.(Gly1633Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035714" "0" "50" "6" "33133424" "33133424" "subst" "0.000510825" "01804" "COL11A2_000009" "g.33133424C>T" "" "" "" "COL11A2(NM_080680.2):c.4652G>A (p.R1551Q), COL11A2(NM_080680.3):c.4652G>A (p.(Arg1551Gln), p.R1551Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035715" "0" "50" "6" "33134544" "33134544" "subst" "8.70041E-5" "01804" "COL11A2_000255" "g.33134544G>A" "" "" "" "COL11A2(NM_080680.3):c.4291C>T (p.(Arg1431Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035716" "0" "50" "6" "33134569" "33134569" "subst" "1.24478E-5" "01804" "COL11A2_000135" "g.33134569C>T" "" "" "" "COL11A2(NM_080680.3):c.4266G>A (p.(Pro1422=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035717" "0" "50" "6" "33134580" "33134580" "subst" "8.29449E-6" "01804" "COL11A2_000256" "g.33134580T>G" "" "" "" "COL11A2(NM_080680.3):c.4255A>C (p.(Ile1419Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035718" "0" "50" "6" "33137170" "33137170" "subst" "3.32566E-5" "01804" "COL11A2_000257" "g.33137170T>C" "" "" "" "COL11A2(NM_080680.3):c.3788A>G (p.(Lys1263Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035719" "0" "50" "6" "33143848" "33143848" "subst" "0" "01804" "COL11A2_000258" "g.33143848T>C" "" "" "" "COL11A2(NM_080680.3):c.2215-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035720" "0" "90" "6" "33144528" "33144528" "del" "0" "02325" "COL11A2_000259" "g.33144528del" "" "" "" "COL11A2(NM_080680.3):c.2086delG (p.E696Kfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035721" "0" "90" "6" "33144530" "33144532" "del" "0" "02325" "COL11A2_000260" "g.33144530_33144532del" "" "" "" "COL11A2(NM_080680.3):c.2081_2083delGGA (p.G694_K695del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035722" "0" "30" "6" "33144766" "33144766" "subst" "0" "01804" "COL11A2_000261" "g.33144766C>T" "" "" "" "COL11A2(NM_080680.3):c.2070+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035723" "0" "30" "6" "33145971" "33145980" "del" "0.000324219" "01804" "COL11A2_000040" "g.33145971_33145980del" "" "" "" "COL11A2(NM_080680.2):c.1819-18_1819-9delCCCTCACCGT, COL11A2(NM_080680.3):c.1819-18_1819-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035724" "0" "50" "6" "33146502" "33146502" "subst" "2.89709E-5" "01804" "COL11A2_000108" "g.33146502C>T" "" "" "" "COL11A2(NM_080680.3):c.1673G>A (p.(Arg558Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035725" "0" "70" "6" "33152009" "33152009" "subst" "0" "01804" "COL11A2_000262" "g.33152009G>C" "" "" "" "COL11A2(NM_080680.3):c.1032C>G (p.(Tyr344*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035726" "0" "50" "6" "33152819" "33152819" "subst" "0.000107331" "01804" "COL11A2_000187" "g.33152819C>T" "" "" "" "COL11A2(NM_080680.2):c.889G>A (p.G297S), COL11A2(NM_080680.3):c.889G>A (p.(Gly297Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035727" "0" "50" "6" "33156206" "33156206" "subst" "7.88166E-5" "01804" "COL11A2_000200" "g.33156206C>T" "" "" "" "COL11A2(NM_080680.2):c.539G>A (p.R180H), COL11A2(NM_080680.3):c.539G>A (p.(Arg180His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035728" "0" "50" "6" "33156764" "33156764" "subst" "3.66142E-5" "02325" "RXRB_000003" "g.33156764G>C" "" "" "" "COL11A2(NM_080680.2):c.434C>G (p.A145G), COL11A2(NM_080680.3):c.434C>G (p.A145G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046063" "0" "50" "6" "33152819" "33152819" "subst" "0.000107331" "02327" "COL11A2_000187" "g.33152819C>T" "" "" "" "COL11A2(NM_080680.2):c.889G>A (p.G297S), COL11A2(NM_080680.3):c.889G>A (p.(Gly297Ser))" "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 COL11A2 ## Count = 382 "{{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}}" "0000089903" "00024025" "50" "4121" "0" "4121" "0" "c.4121C>T" "r.(?)" "p.Pro1374Leu" "" "0000089905" "00024025" "50" "2377" "0" "2377" "0" "c.2377C>T" "r.(?)" "p.Pro793Ser" "" "0000248302" "00024025" "10" "2700" "0" "2700" "0" "c.2700T>C" "r.(?)" "p.(Asp900=)" "" "0000248331" "00024025" "10" "877" "-4" "877" "-4" "c.877-4T>A" "r.spl?" "p.?" "" "0000250037" "00024025" "10" "2700" "0" "2700" "0" "c.2700T>C" "r.(?)" "p.(Asp900=)" "" "0000250066" "00024025" "10" "877" "-4" "877" "-4" "c.877-4T>A" "r.spl?" "p.?" "" "0000253536" "00024025" "10" "4458" "0" "4458" "0" "c.4458T>A" "r.(?)" "p.(Gly1486=)" "" "0000254976" "00024025" "30" "480" "0" "480" "0" "c.480T>G" "r.(?)" "p.(Ser160=)" "" "0000255144" "00024025" "30" "2277" "0" "2277" "0" "c.2277T>G" "r.(?)" "p.(Val759=)" "" "0000255238" "00024025" "30" "3583" "-5" "3583" "-5" "c.3583-5T>C" "r.spl?" "p.?" "" "0000266888" "00024025" "10" "1360" "-7" "1360" "-7" "c.1360-7A>C" "r.(=)" "p.(=)" "" "0000266889" "00024025" "10" "2136" "0" "2136" "0" "c.2136A>T" "r.(?)" "p.(Gly712=)" "" "0000266890" "00024025" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0000266891" "00024025" "10" "2628" "3" "2628" "3" "c.2628+3G>A" "r.spl?" "p.?" "" "0000266892" "00024025" "10" "3150" "15" "3150" "15" "c.3150+15A>C" "r.(=)" "p.(=)" "" "0000266893" "00024025" "10" "3313" "-11" "3313" "-11" "c.3313-11C>T" "r.(=)" "p.(=)" "" "0000266894" "00024025" "10" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Pro1128=)" "" "0000266895" "00024025" "10" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "" "0000268181" "00024025" "10" "1179" "10" "1179" "10" "c.1179+10G>A" "r.(=)" "p.(=)" "" "0000268182" "00024025" "10" "1360" "-7" "1360" "-7" "c.1360-7A>C" "r.(=)" "p.(=)" "" "0000268183" "00024025" "30" "1581" "0" "1581" "0" "c.1581C>T" "r.(?)" "p.(Leu527=)" "" "0000268184" "00024025" "10" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Asp594=)" "" "0000268185" "00024025" "10" "2136" "0" "2136" "0" "c.2136A>T" "r.(?)" "p.(Gly712=)" "" "0000268186" "00024025" "10" "2484" "13" "2484" "13" "c.2484+13del" "r.(=)" "p.(=)" "" "0000268187" "00024025" "30" "2584" "-5" "2584" "-5" "c.2584-5del" "r.spl?" "p.?" "" "0000268188" "00024025" "10" "2628" "3" "2628" "3" "c.2628+3G>A" "r.spl?" "p.?" "" "0000268189" "00024025" "10" "2681" "0" "2681" "0" "c.2681C>T" "r.(?)" "p.(Pro894Leu)" "" "0000268190" "00024025" "90" "2684" "0" "2684" "0" "c.2684G>C" "r.(?)" "p.(Gly895Ala)" "" "0000268191" "00024025" "10" "3150" "15" "3150" "15" "c.3150+15A>C" "r.(=)" "p.(=)" "" "0000268192" "00024025" "10" "3313" "-11" "3313" "-11" "c.3313-11C>T" "r.(=)" "p.(=)" "" "0000268193" "00024025" "10" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Pro1128=)" "" "0000268194" "00024025" "10" "3946" "0" "3946" "0" "c.3946C>A" "r.(?)" "p.(Pro1316Thr)" "" "0000268195" "00024025" "10" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Pro1722Leu)" "" "0000268196" "00024025" "30" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Leu208=)" "" "0000268197" "00024025" "10" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "" "0000270365" "00024025" "30" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Val182Ile)" "" "0000273784" "00024025" "30" "1197" "0" "1197" "0" "c.1197G>C" "r.(?)" "p.(Gly399=)" "" "0000273785" "00024025" "50" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Cys)" "" "0000273786" "00024025" "30" "1504" "-9" "1504" "-9" "c.1504-9C>G" "r.(=)" "p.(=)" "" "0000273787" "00024025" "30" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Arg539Trp)" "" "0000273788" "00024025" "50" "1750" "0" "1758" "0" "c.1750_1758del" "r.(?)" "p.(Pro584_Gly586del)" "" "0000273789" "00024025" "30" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Asp594=)" "" "0000273790" "00024025" "30" "1819" "-18" "1819" "-9" "c.1819-18_1819-9del" "r.(=)" "p.(=)" "" "0000273791" "00024025" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Pro779Leu)" "" "0000273792" "00024025" "30" "2584" "-5" "2584" "-5" "c.2584-5del" "r.spl?" "p.?" "" "0000273793" "00024025" "30" "261" "0" "261" "0" "c.261G>C" "r.(?)" "p.(Leu87=)" "" "0000273794" "00024025" "70" "2738" "0" "2738" "0" "c.2738G>T" "r.(?)" "p.(Gly913Val)" "" "0000273795" "00024025" "30" "3111" "0" "3111" "0" "c.3111G>T" "r.(?)" "p.(Pro1037=)" "" "0000273796" "00024025" "30" "3289" "0" "3289" "0" "c.3289A>C" "r.(?)" "p.(Thr1097Pro)" "" "0000273797" "00024025" "30" "353" "0" "353" "0" "c.353G>C" "r.(?)" "p.(Arg118Pro)" "" "0000273798" "00024025" "50" "3545" "0" "3545" "0" "c.3545C>A" "r.(?)" "p.(Pro1182Gln)" "" "0000273799" "00024025" "30" "3616" "0" "3616" "0" "c.3616C>T" "r.(?)" "p.(Leu1206=)" "" "0000273800" "00024025" "30" "3654" "0" "3654" "0" "c.3654A>G" "r.(?)" "p.(Ser1218=)" "" "0000273801" "00024025" "30" "3699" "0" "3699" "0" "c.3699C>T" "r.(?)" "p.(Arg1233=)" "" "0000273802" "00024025" "30" "3975" "0" "3975" "0" "c.3975G>C" "r.(?)" "p.(Ser1325=)" "" "0000273803" "00024025" "50" "3992" "0" "3992" "0" "c.3992G>A" "r.(?)" "p.(Arg1331Gln)" "" "0000273804" "00024025" "30" "4206" "0" "4206" "0" "c.4206C>T" "r.(?)" "p.(Gly1402=)" "" "0000273805" "00024025" "70" "4250" "0" "4250" "0" "c.4250G>A" "r.(?)" "p.(Gly1417Glu)" "" "0000273806" "00024025" "30" "4383" "0" "4383" "0" "c.4383C>T" "r.(?)" "p.(Pro1461=)" "" "0000273807" "00024025" "50" "4396" "0" "4396" "0" "c.4396C>T" "r.(?)" "p.(Pro1466Ser)" "" "0000273808" "00024025" "30" "4521" "0" "4521" "0" "c.4521G>A" "r.(?)" "p.(Gln1507=)" "" "0000273809" "00024025" "30" "4539" "0" "4539" "0" "c.4539G>A" "r.(?)" "p.(Arg1513=)" "" "0000273810" "00024025" "50" "4652" "0" "4652" "0" "c.4652G>A" "r.(?)" "p.(Arg1551Gln)" "" "0000273811" "00024025" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Tyr1624=)" "" "0000273812" "00024025" "30" "4950" "0" "4950" "0" "c.4950C>T" "r.(?)" "p.(Asp1650=)" "" "0000273813" "00024025" "30" "5000" "0" "5000" "0" "c.5000G>A" "r.(?)" "p.(Arg1667His)" "" "0000273814" "00024025" "30" "5071" "-7" "5071" "-7" "c.5071-7C>G" "r.(=)" "p.(=)" "" "0000273815" "00024025" "30" "5088" "0" "5088" "0" "c.5088G>A" "r.(?)" "p.(Thr1696=)" "" "0000273816" "00024025" "30" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Val182Ile)" "" "0000273817" "00024025" "30" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Ile210Val)" "" "0000273819" "00024025" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Ala324=)" "" "0000337797" "00024025" "90" "4482" "1" "4482" "1" "c.4482+1G>T" "r.spl?" "p.?" "" "0000337798" "00024025" "10" "3150" "15" "3150" "15" "c.3150+15A>C" "r.(=)" "p.(=)" "" "0000337799" "00024025" "10" "2700" "0" "2700" "0" "c.2700T>C" "r.(?)" "p.(Asp900=)" "" "0000337800" "00024025" "10" "2628" "3" "2628" "3" "c.2628+3G>A" "r.spl?" "p.?" "" "0000337801" "00024025" "10" "2484" "22" "2484" "22" "c.2484+22C>G" "r.(=)" "p.(=)" "" "0000337804" "00024025" "10" "1360" "-7" "1360" "-7" "c.1360-7A>C" "r.(=)" "p.(=)" "" "0000337805" "00024025" "10" "1179" "10" "1179" "10" "c.1179+10G>A" "r.(=)" "p.(=)" "" "0000337806" "00024025" "10" "877" "-4" "877" "-4" "c.877-4T>A" "r.spl?" "p.?" "" "0000337807" "00024025" "10" "-200" "0" "-200" "0" "c.-200G>A" "r.(?)" "p.(=)" "" "0000339888" "00024025" "10" "2136" "0" "2136" "0" "c.2136A>T" "r.(?)" "p.(Gly712=)" "" "0000339889" "00024025" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Gly508=)" "" "0000341832" "00024025" "90" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Arg1379Ter)" "" "0000343506" "00024025" "90" "3100" "0" "3100" "0" "c.3100C>T" "r.(?)" "p.(Arg1034Cys)" "" "0000344488" "00024025" "90" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Gln1134Ter)" "" "0000344698" "00024025" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249Ter)" "" "0000345667" "00024025" "70" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Asp)" "" "0000345728" "00024025" "50" "4591" "0" "4591" "0" "c.4591G>A" "r.(?)" "p.(Gly1531Arg)" "" "0000346117" "00024025" "50" "1748" "0" "1748" "0" "c.1748G>C" "r.(?)" "p.(Gly583Ala)" "" "0000348117" "00024025" "10" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Pro1128=)" "" "0000348225" "00024025" "10" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Pro1722Leu)" "" "0000348578" "00024025" "10" "2681" "0" "2681" "0" "c.2681C>T" "r.(?)" "p.(Pro894Leu)" "" "0000348628" "00024025" "10" "3174" "0" "3174" "0" "c.3174G>A" "r.(?)" "p.(Pro1058=)" "" "0000351125" "00024025" "10" "3313" "-11" "3313" "-11" "c.3313-11C>T" "r.(=)" "p.(=)" "" "0000528619" "00024025" "50" "5171" "0" "5171" "0" "c.5171G>A" "r.(?)" "p.(Arg1724Gln)" "" "0000528620" "00024025" "30" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Pro1722Leu)" "" "0000528621" "00024025" "50" "5111" "0" "5111" "0" "c.5111T>G" "r.(?)" "p.(Val1704Gly)" "" "0000528622" "00024025" "30" "5071" "-5" "5071" "-5" "c.5071-5T>G" "r.spl?" "p.?" "" "0000528623" "00024025" "50" "4997" "0" "4997" "0" "c.4997T>C" "r.(?)" "p.(Leu1666Pro)" "" "0000528624" "00024025" "50" "4898" "0" "4898" "0" "c.4898G>A" "r.(?)" "p.(Gly1633Asp)" "" "0000528625" "00024025" "30" "4884" "0" "4884" "0" "c.4884G>C" "r.(?)" "p.(Glu1628Asp)" "" "0000528627" "00024025" "30" "4683" "0" "4683" "0" "c.4683A>G" "r.(?)" "p.(Thr1561=)" "" "0000528628" "00024025" "30" "4521" "0" "4521" "0" "c.4521G>A" "r.(?)" "p.(Gln1507=)" "" "0000528629" "00024025" "30" "4429" "-9" "4429" "-9" "c.4429-9C>G" "r.(=)" "p.(=)" "" "0000528630" "00024025" "90" "4392" "1" "4392" "1" "c.4392+1G>A" "r.spl?" "p.?" "" "0000528631" "00024025" "30" "4230" "7" "4230" "7" "c.4230+7dup" "r.(=)" "p.(=)" "" "0000528632" "00024025" "90" "4176" "1" "4176" "1" "c.4176+1G>A" "r.spl?" "p.?" "" "0000528633" "00024025" "30" "3974" "0" "3974" "0" "c.3974C>T" "r.(?)" "p.(Ser1325Leu)" "" "0000528634" "00024025" "50" "3950" "0" "3950" "0" "c.3950T>C" "r.(?)" "p.(Leu1317Pro)" "" "0000528637" "00024025" "50" "3774" "0" "3774" "0" "c.3774C>T" "r.(?)" "p.(Gly1258=)" "" "0000528638" "00024025" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Cys)" "" "0000528639" "00024025" "10" "3699" "0" "3699" "0" "c.3699C>T" "r.(?)" "p.(Arg1233=)" "" "0000528640" "00024025" "30" "3637" "-3" "3637" "-3" "c.3637-3C>T" "r.spl?" "p.?" "" "0000528641" "00024025" "50" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Pro1208Ser)" "" "0000528642" "00024025" "50" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Pro1208Ser)" "" "0000528643" "00024025" "10" "3615" "0" "3615" "0" "c.3615C>A" "r.(?)" "p.(Asn1205Lys)" "" "0000528644" "00024025" "30" "3583" "-5" "3583" "-5" "c.3583-5T>C" "r.spl?" "p.?" "" "0000528645" "00024025" "50" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Arg1131Gln)" "" "0000528646" "00024025" "10" "3174" "0" "3174" "0" "c.3174G>A" "r.(?)" "p.(Pro1058=)" "" "0000528647" "00024025" "10" "3174" "0" "3174" "0" "c.3174G>A" "r.(?)" "p.(Pro1058=)" "" "0000528648" "00024025" "10" "3111" "0" "3111" "0" "c.3111G>T" "r.(?)" "p.(Pro1037=)" "" "0000528649" "00024025" "30" "2921" "0" "2921" "0" "c.2921C>T" "r.(?)" "p.(Ala974Val)" "" "0000528650" "00024025" "50" "2921" "0" "2921" "0" "c.2921C>T" "r.(?)" "p.(Ala974Val)" "" "0000528651" "00024025" "30" "2628" "14" "2628" "14" "c.2628+14G>A" "r.(=)" "p.(=)" "" "0000528652" "00024025" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "" "0000528653" "00024025" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0000528654" "00024025" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0000528655" "00024025" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Gly757=)" "" "0000528656" "00024025" "30" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0000528657" "00024025" "30" "2182" "0" "2182" "0" "c.2182A>T" "r.(?)" "p.(Ile728Phe)" "" "0000528658" "00024025" "70" "2170" "0" "2170" "0" "c.2170G>T" "r.(?)" "p.(Gly724Cys)" "" "0000528659" "00024025" "50" "2167" "0" "2167" "0" "c.2167A>G" "r.(?)" "p.(Lys723Glu)" "" "0000528660" "00024025" "30" "2017" "-5" "2017" "-5" "c.2017-5T>G" "r.spl?" "p.?" "" "0000528661" "00024025" "10" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Asp594=)" "" "0000528662" "00024025" "30" "1774" "-17" "1774" "-17" "c.1774-17G>A" "r.(=)" "p.(=)" "" "0000528663" "00024025" "90" "1719" "1" "1719" "1" "c.1719+1G>T" "r.spl?" "p.?" "" "0000528664" "00024025" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0000528665" "00024025" "30" "1612" "-10" "1612" "-10" "c.1612-10G>C" "r.(=)" "p.(=)" "" "0000528666" "00024025" "30" "1612" "-10" "1612" "-10" "c.1612-10G>C" "r.(=)" "p.(=)" "" "0000528667" "00024025" "70" "1611" "1" "1611" "1" "c.1611+1G>T" "r.spl?" "p.?" "" "0000528668" "00024025" "50" "1559" "0" "1559" "0" "c.1559G>A" "r.(?)" "p.(Gly520Asp)" "" "0000528669" "00024025" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Pro400Thr)" "" "0000528670" "00024025" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Asp325Asn)" "" "0000528671" "00024025" "90" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Thr323HisfsTer19)" "" "0000528672" "00024025" "50" "910" "0" "910" "0" "c.910G>C" "r.(?)" "p.(Glu304Gln)" "" "0000528673" "00024025" "30" "798" "38" "798" "38" "c.798+38C>A" "r.(=)" "p.(=)" "" "0000528674" "00024025" "30" "751" "0" "751" "0" "c.751C>A" "r.(?)" "p.(Gln251Lys)" "" "0000528675" "00024025" "30" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Leu208=)" "" "0000528676" "00024025" "50" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ala145Gly)" "" "0000528677" "00024025" "50" "353" "0" "353" "0" "c.353G>C" "r.(?)" "p.(Arg118Pro)" "" "0000528678" "00024025" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000528679" "00024025" "30" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Pro77Gln)" "" "0000528680" "00024025" "10" "-174" "0" "-174" "0" "c.-174C>A" "r.(?)" "p.(=)" "" "0000610305" "00024025" "70" "3980" "0" "3980" "0" "c.3980G>T" "r.(?)" "p.(Gly1327Val)" "" "0000610306" "00024025" "30" "3576" "0" "3576" "0" "c.3576C>T" "r.(?)" "p.(Gly1192=)" "" "0000610307" "00024025" "90" "3553" "0" "3553" "0" "c.3553C>T" "r.(?)" "p.(Arg1185Ter)" "" "0000610308" "00024025" "30" "3486" "0" "3486" "0" "c.3486C>G" "r.(?)" "p.(Gly1162=)" "" "0000610309" "00024025" "10" "3313" "-11" "3313" "-11" "c.3313-11C>T" "r.(=)" "p.(=)" "" "0000610310" "00024025" "10" "3150" "15" "3150" "15" "c.3150+15A>C" "r.(=)" "p.(=)" "" "0000610311" "00024025" "10" "2700" "0" "2700" "0" "c.2700T>C" "r.(?)" "p.(Asp900=)" "" "0000610312" "00024025" "10" "2628" "3" "2628" "3" "c.2628+3G>A" "r.spl?" "p.?" "" "0000610313" "00024025" "10" "2136" "0" "2136" "0" "c.2136A>T" "r.(?)" "p.(Gly712=)" "" "0000610314" "00024025" "30" "1819" "-10" "1819" "-10" "c.1819-10G>A" "r.(=)" "p.(=)" "" "0000610315" "00024025" "50" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Gln)" "" "0000610316" "00024025" "10" "1360" "-7" "1360" "-7" "c.1360-7A>C" "r.(=)" "p.(=)" "" "0000610317" "00024025" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "" "0000610318" "00024025" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Thr323HisfsTer19)" "" "0000610319" "00024025" "50" "798" "67" "798" "67" "c.798+67C>T" "r.(=)" "p.(=)" "" "0000621701" "00024025" "10" "4392" "12" "4392" "12" "c.4392+12C>T" "r.(=)" "p.(=)" "" "0000621702" "00024025" "10" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Arg840=)" "" "0000621703" "00024025" "10" "1972" "-16" "1972" "-16" "c.1972-16C>T" "r.(=)" "p.(=)" "" "0000640081" "00024025" "99" "4750" "0" "4750" "0" "c.4750G>T" "r.(?)" "p.(Gly1584*)" "63" "0000640082" "00024025" "55" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569Cys)" "63" "0000640083" "00024025" "33" "4683" "0" "4683" "0" "c.4683A>G" "r.(=)" "p.(=)" "63" "0000640084" "00024025" "99" "4600" "0" "4600" "0" "c.4600C>T" "r.(?)" "p.(Pro1534Ser)" "63" "0000640085" "00024025" "11" "4521" "0" "4521" "0" "c.4521G>A" "r.(=)" "p.(=)" "63" "0000640086" "00024025" "55" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Glu1499Lys)" "63" "0000640087" "00024025" "99" "4465" "0" "4465" "0" "c.4465G>A" "r.(?)" "p.(Gly1489Ser)" "62" "0000640088" "00024025" "99" "4392" "1" "4392" "1" "c.4392+1G>A" "r.spl?" "p.?" "60i" "0000640089" "00024025" "99" "4322" "0" "4322" "0" "c.4322G>A" "r.(?)" "p.(Gly1441Glu)" "59" "0000640090" "00024025" "77" "4266" "0" "4266" "0" "c.4266G>A" "r.(=)" "p.(=)" "59" "0000640091" "00024025" "33" "4206" "0" "4206" "0" "c.4206C>T" "r.(=)" "p.(=)" "58" "0000640092" "00024025" "99" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Arg1379*)" "57" "0000640093" "00024025" "99" "3991" "0" "3991" "0" "c.3991C>T" "r.(?)" "p.(Arg1331*)" "55" "0000640094" "00024025" "90" "3962" "0" "3962" "0" "c.3962del" "r.spl?" "p.(Gly1321Valfs*24)" "54i" "0000640095" "00024025" "99" "3938" "0" "3949" "0" "c.3938_3949del" "r.(?)" "p.(Pro1313_Pro1316del)" "54" "0000640096" "00024025" "99" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Asp)" "54" "0000640097" "00024025" "99" "3906" "5" "3906" "5" "c.3906+5G>A" "r.spl?" "p.?" "53i" "0000640098" "00024025" "33" "3878" "0" "3878" "0" "c.3878G>A" "r.(?)" "p.(Arg1293Gln)" "53" "0000640099" "00024025" "77" "3774" "0" "3774" "0" "c.3774C>T" "r.(=)" "p.(=)" "51" "0000640100" "00024025" "55" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Pro1208Ser)" "49" "0000640101" "00024025" "55" "3583" "-3" "3583" "-3" "c.3583-3C>T" "r.spl?" "p.?" "48i" "0000640102" "00024025" "99" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Arg1131Gln)" "46" "0000640103" "00024025" "99" "3329" "0" "3329" "0" "c.3329del" "r.(?)" "p.(Pro1110Leufs*235)" "45" "0000640104" "00024025" "99" "3312" "2" "3312" "2" "c.3312+2dup" "r.spl?" "p.?" "44i" "0000640105" "00024025" "99" "3100" "0" "3100" "0" "c.3100C>T" "r.(?)" "p.(Arg1034Cys)" "42" "0000640106" "00024025" "99" "3032" "0" "3032" "0" "c.3032dup" "r.(?)" "p.(Gly1012Trpfs*41)" "41" "0000640107" "00024025" "99" "3015" "0" "3015" "0" "c.3015A>T" "r.(?)" "p.(Glu1005Asp)" "41" "0000640108" "00024025" "55" "2921" "0" "2921" "0" "c.2921C>T" "r.(?)" "p.(Ala974Val)" "40" "0000640109" "00024025" "99" "2902" "0" "2910" "0" "c.2902_2910del" "r.(?)" "p.(Asp968_Gly970del)" "40" "0000640110" "00024025" "99" "2763" "0" "2763" "0" "c.2763del" "r.(?)" "p.(Gly922Valfs*62)" "38" "0000640111" "00024025" "55" "2758" "0" "2758" "0" "c.2758C>A" "r.(?)" "p.(Pro920Thr)" "38" "0000640112" "00024025" "55" "2693" "0" "2693" "0" "c.2693G>A" "r.(?)" "p.(Gly898Glu)" "37" "0000640113" "00024025" "55" "2682" "0" "2682" "0" "c.2682G>A" "r.(=)" "p.(=)" "36" "0000640114" "00024025" "99" "2662" "0" "2662" "0" "c.2662C>A" "r.(?)" "p.(Pro888Thr)" "36" "0000640115" "00024025" "33" "2629" "-12" "2629" "-12" "c.2629-12dup" "r.(=)" "p.(=)" "35i" "0000640116" "00024025" "99" "2492" "0" "2492" "0" "c.2492C>A" "r.(?)" "p.(Ser831*)" "33" "0000640117" "00024025" "99" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Gly808Glu)" "31" "0000640118" "00024025" "99" "2406" "0" "2409" "0" "c.2406_2409delinsGACCCATCA" "r.(?)" "p.(Tyr803Thrfs*13)" "31" "0000640119" "00024025" "77" "2268" "1" "2268" "1" "c.2268+1G>T" "r.spl?" "p.?" "29i" "0000640120" "00024025" "99" "2002" "0" "2002" "0" "c.2002C>T" "r.(?)" "p.(Pro668Ser)" "24" "0000640121" "00024025" "99" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Arg)" "24" "0000640122" "00024025" "99" "1918" "-2" "1918" "-2" "c.1918-2A>G" "r.spl?" "p.?" "22i" "0000640123" "00024025" "55" "1872" "5" "1872" "5" "c.1872+5G>A" "r.spl?" "p.?" "21i" "0000640124" "00024025" "99" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Pro621Thr)" "21" "0000640125" "00024025" "55" "1817" "0" "1817" "0" "c.1817C>G" "r.(?)" "p.(Ser606Trp)" "20" "0000640126" "00024025" "99" "1719" "3" "1719" "3" "c.1719+3dup" "r.spl?" "p.?" "18i" "0000640127" "00024025" "99" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546*)" "17" "0000640128" "00024025" "55" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Arg539Trp)" "17" "0000640129" "00024025" "77" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "16" "0000640130" "00024025" "55" "1427" "0" "1427" "0" "c.1427C>T" "r.(?)" "p.(Ala476Val)" "13" "0000640131" "00024025" "99" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Trp)" "13" "0000640132" "00024025" "33" "1188" "0" "1188" "0" "c.1188C>T" "r.(=)" "p.(=)" "10" "0000640133" "00024025" "99" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Thr323Hisfs*19)" "8" "0000640134" "00024025" "55" "798" "38" "798" "38" "c.798+38C>A" "r.(=)" "p.(=)" "5i" "0000640135" "00024025" "99" "733" "0" "733" "0" "c.733del" "r.(?)" "p.(Gln245Argfs*38)" "5" "0000640136" "00024025" "77" "654" "0" "654" "0" "c.654T>A" "r.(?)" "p.(Tyr218*)" "5" "0000640137" "00024025" "99" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177*)" "4" "0000640138" "00024025" "55" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "3" "0000640139" "00024025" "99" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Ala37Ser)" "2" "0000647119" "00024025" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Gly461Asp)" "" "0000651941" "00024025" "30" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Pro1722Leu)" "" "0000651942" "00024025" "10" "3946" "0" "3946" "0" "c.3946C>A" "r.(?)" "p.(Pro1316Thr)" "" "0000651943" "00024025" "90" "2492" "0" "2492" "0" "c.2492C>T" "r.(?)" "p.(Ser831Leu)" "" "0000651944" "00024025" "50" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Arg539Trp)" "" "0000651945" "00024025" "50" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "" "0000651946" "00024025" "50" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230Trp)" "" "0000655574" "00024025" "50" "5128" "0" "5128" "0" "c.5128G>C" "r.(?)" "p.(Val1710Leu)" "" "0000655575" "00024025" "30" "4683" "0" "4683" "0" "c.4683A>G" "r.(?)" "p.(Thr1561=)" "" "0000655576" "00024025" "30" "4056" "0" "4056" "0" "c.4056G>A" "r.(?)" "p.(Pro1352=)" "" "0000655577" "00024025" "90" "3852" "1" "3852" "1" "c.3852+1G>A" "r.spl?" "p.?" "" "0000655578" "00024025" "50" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Ile)" "" "0000669908" "00024025" "30" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Pro1722Leu)" "" "0000669909" "00024025" "10" "3946" "0" "3946" "0" "c.3946C>A" "r.(?)" "p.(Pro1316Thr)" "" "0000669910" "00024025" "50" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "" "0000677747" "00024025" "30" "5160" "0" "5160" "0" "c.5160C>G" "r.(?)" "p.(Ala1720=)" "" "0000677748" "00024025" "30" "5073" "0" "5073" "0" "c.5073A>C" "r.(?)" "p.(Thr1691=)" "" "0000677749" "00024025" "50" "3950" "0" "3950" "0" "c.3950T>C" "r.(?)" "p.(Leu1317Pro)" "" "0000677750" "00024025" "50" "3749" "0" "3749" "0" "c.3749C>T" "r.(?)" "p.(Pro1250Leu)" "" "0000677751" "00024025" "70" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Gly808Glu)" "" "0000677753" "00024025" "30" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Arg539Trp)" "" "0000677754" "00024025" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Leu271=)" "" "0000677755" "00024025" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000677756" "00024025" "30" "291" "0" "291" "0" "c.291A>G" "r.(?)" "p.(Gln97=)" "" "0000687722" "00024025" "90" "4392" "1" "4392" "1" "c.4392+1G>A" "r.spl?" "p.?" "60" "0000689714" "00024025" "90" "4230" "1" "4230" "1" "c.4230+1G>A" "r.spl?" "p.?" "" "0000689715" "00024025" "10" "3699" "0" "3699" "0" "c.3699C>T" "r.(?)" "p.(Arg1233=)" "" "0000689716" "00024025" "10" "3111" "0" "3111" "0" "c.3111G>T" "r.(?)" "p.(Pro1037=)" "" "0000689717" "00024025" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Gly913Ser)" "" "0000689718" "00024025" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Asp325Asn)" "" "0000689719" "00024025" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000689720" "00024025" "90" "813" "0" "814" "0" "c.813_814del" "r.(?)" "p.(Tyr272LeufsTer2)" "" "0000720875" "00024025" "30" "5071" "-7" "5071" "-7" "c.5071-7C>G" "r.(=)" "p.(=)" "" "0000720876" "00024025" "30" "5000" "0" "5000" "0" "c.5000G>A" "r.(?)" "p.(Arg1667His)" "" "0000720877" "00024025" "50" "4482" "0" "4482" "0" "c.4482G>A" "r.(?)" "p.(Pro1494=)" "" "0000720878" "00024025" "10" "4458" "0" "4458" "0" "c.4458T>A" "r.(?)" "p.(Gly1486=)" "" "0000720879" "00024025" "30" "4392" "0" "4392" "0" "c.4392C>T" "r.(?)" "p.(Pro1464=)" "" "0000720880" "00024025" "50" "3329" "0" "3329" "0" "c.3329C>G" "r.(?)" "p.(Pro1110Arg)" "" "0000720881" "00024025" "50" "3173" "0" "3173" "0" "c.3173C>T" "r.(?)" "p.(Pro1058Leu)" "" "0000720882" "00024025" "30" "2791" "-4" "2791" "-4" "c.2791-4C>A" "r.spl?" "p.?" "" "0000720883" "00024025" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "" "0000720884" "00024025" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0000720885" "00024025" "50" "2474" "0" "2474" "0" "c.2474A>C" "r.(?)" "p.(Lys825Thr)" "" "0000720886" "00024025" "30" "2268" "8" "2268" "8" "c.2268+8G>A" "r.(=)" "p.(=)" "" "0000720887" "00024025" "30" "1917" "7" "1917" "7" "c.1917+7G>A" "r.(=)" "p.(=)" "" "0000720888" "00024025" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Gly461Asp)" "" "0000720889" "00024025" "50" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Gly460=)" "" "0000720890" "00024025" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Trp)" "" "0000720891" "00024025" "30" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Leu208=)" "" "0000720892" "00024025" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000729866" "00024025" "90" "1807" "0" "1807" "0" "c.1807dup" "r.(?)" "p.(Gly604Trpfs*132)" "" "0000729867" "00024025" "90" "2755" "0" "2755" "0" "c.2755G>C" "r.(?)" "p.(Gly919Arg)" "" "0000759998" "00024025" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000787240" "00024025" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Pro445Leu)" "12" "0000787780" "00024025" "70" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Val752Met)" "" "0000802542" "00024025" "30" "4860" "0" "4860" "0" "c.4860G>A" "r.(?)" "p.(Thr1620=)" "" "0000802543" "00024025" "30" "4652" "0" "4652" "0" "c.4652G>A" "r.(?)" "p.(Arg1551Gln)" "" "0000802544" "00024025" "70" "4456" "0" "4456" "0" "c.4456G>A" "r.(?)" "p.(Gly1486Ser)" "" "0000802545" "00024025" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Gly1360=)" "" "0000802546" "00024025" "50" "3937" "0" "3937" "0" "c.3937C>G" "r.(?)" "p.(Pro1313Ala)" "" "0000802547" "00024025" "30" "2737" "-10" "2737" "-10" "c.2737-10C>T" "r.(=)" "p.(=)" "" "0000802548" "00024025" "30" "2187" "0" "2187" "0" "c.2187G>C" "r.(?)" "p.(Arg729=)" "" "0000802549" "00024025" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Pro294=)" "" "0000802550" "00024025" "30" "798" "38" "798" "38" "c.798+38C>A" "r.(=)" "p.(=)" "" "0000802551" "00024025" "30" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Pro236Ser)" "" "0000802552" "00024025" "50" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000802553" "00024025" "30" "353" "0" "353" "0" "c.353G>C" "r.(?)" "p.(Arg118Pro)" "" "0000802554" "00024025" "50" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0000830853" "00024025" "70" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Pro779Leu)" "" "0000832672" "00024025" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Ser)" "" "0000841192" "00024025" "50" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Pro621Thr)" "" "0000851193" "00024025" "50" "4537" "0" "4537" "0" "c.4537C>T" "r.(?)" "p.(Arg1513Trp)" "" "0000851194" "00024025" "50" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000851195" "00024025" "10" "1972" "-16" "1972" "-16" "c.1972-16C>T" "r.(=)" "p.(=)" "" "0000851196" "00024025" "30" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000851197" "00024025" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" "" "0000860311" "00024025" "50" "5071" "-5" "5071" "-5" "c.5071-5T>G" "r.spl?" "p.?" "" "0000860312" "00024025" "50" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Gly1483Arg)" "" "0000860313" "00024025" "50" "3832" "0" "3832" "0" "c.3832C>G" "r.(?)" "p.(Pro1278Ala)" "" "0000860314" "00024025" "30" "3583" "-5" "3583" "-5" "c.3583-5T>C" "r.spl?" "p.?" "" "0000860315" "00024025" "30" "2757" "0" "2757" "0" "c.2757C>T" "r.(?)" "p.(Gly919=)" "" "0000860316" "00024025" "50" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Gln)" "" "0000860317" "00024025" "90" "798" "23" "798" "23" "c.798+23del" "r.(=)" "p.(=)" "" "0000860318" "00024025" "50" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Pro77Gln)" "" "0000871592" "00024025" "50" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Pro641Leu)" "" "0000880973" "00024025" "50" "4460" "0" "4460" "0" "c.4460T>G" "r.(?)" "p.(Val1487Gly)" "" "0000887205" "00024025" "30" "3950" "0" "3950" "0" "c.3950T>C" "r.(?)" "p.(Leu1317Pro)" "" "0000887206" "00024025" "50" "3937" "0" "3937" "0" "c.3937C>G" "r.(?)" "p.(Pro1313Ala)" "" "0000887207" "00024025" "50" "3622" "0" "3622" "0" "c.3622C>G" "r.(?)" "p.(Pro1208Ala)" "" "0000887208" "00024025" "50" "2960" "0" "2960" "0" "c.2960C>T" "r.(?)" "p.(Pro987Leu)" "" "0000887209" "00024025" "50" "2684" "0" "2684" "0" "c.2684G>C" "r.(?)" "p.(Gly895Ala)" "" "0000887210" "00024025" "50" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Pro393Leu)" "" "0000887211" "00024025" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl?" "p.?" "" "0000887212" "00024025" "50" "484" "0" "484" "0" "c.484A>T" "r.(?)" "p.(Thr162Ser)" "" "0000912482" "00024025" "50" "4265" "0" "4265" "0" "c.4265C>T" "r.(?)" "p.(Pro1422Leu)" "" "0000918871" "00024025" "50" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Thr843Met)" "33" "0000918872" "00024025" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Trp)" "13" "0000918876" "00024025" "50" "2069" "0" "2069" "0" "c.2069C>T" "r.(?)" "p.(Pro690Leu)" "25" "0000918886" "00024025" "70" "3553" "0" "3553" "0" "c.3553C>T" "r.(?)" "p.(Arg1185Ter)" "48" "0000918893" "00024025" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Cys)" "8" "0000918897" "00024025" "50" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Glu941Lys)" "39" "0000918910" "00024025" "50" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Glu941Lys)" "39" "0000924489" "00024025" "30" "4854" "0" "4854" "0" "c.4854C>G" "r.(?)" "p.(Asp1618Glu)" "" "0000924490" "00024025" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Pro779Leu)" "" "0000929174" "00024025" "50" "3092" "0" "3092" "0" "c.3092C>T" "r.(?)" "p.(Pro1031Leu)" "" "0000944357" "00024025" "70" "4540" "0" "4540" "0" "c.4540C>T" "r.(?)" "p.(Arg1514Cys)" "" "0000944391" "00024025" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Gly832Glu)" "" "0000944451" "00024025" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Cys)" "" "0000948700" "00024025" "50" "5081" "0" "5081" "0" "c.5081G>T" "r.(?)" "p.(Gly1694Val)" "" "0000964126" "00024025" "50" "3697" "0" "3697" "0" "c.3697C>T" "r.(?)" "p.(Arg1233Cys)" "" "0000964127" "00024025" "50" "3647" "0" "3647" "0" "c.3647G>T" "r.(?)" "p.(Gly1216Val)" "" "0000964128" "00024025" "30" "3529" "-3" "3529" "-3" "c.3529-3C>T" "r.spl?" "p.?" "" "0000977196" "00024025" "50" "4780" "0" "4780" "0" "c.4780T>A" "r.(?)" "p.(Cys1594Ser)" "" "0000977197" "00024025" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Cys)" "" "0000977198" "00024025" "50" "2960" "0" "2960" "0" "c.2960C>T" "r.(?)" "p.(Pro987Leu)" "" "0000977199" "00024025" "30" "2865" "0" "2865" "0" "c.2865A>T" "r.(?)" "p.(=)" "" "0000977200" "00024025" "50" "1817" "0" "1817" "0" "c.1817C>G" "r.(?)" "p.(Ser606Trp)" "" "0000977201" "00024025" "30" "1774" "-5" "1774" "-3" "c.1774-5_1774-3del" "r.spl?" "p.?" "" "0000977202" "00024025" "50" "1327" "0" "1327" "0" "c.1327C>G" "r.(?)" "p.(Pro443Ala)" "" "0000977203" "00024025" "50" "291" "0" "291" "0" "c.291A>G" "r.(?)" "p.(Gln97=)" "" "0000995712" "00024025" "50" "4933" "0" "4933" "0" "c.4933G>T" "r.(?)" "p.(Val1645Phe)" "" "0000995713" "00024025" "30" "4884" "0" "4884" "0" "c.4884G>C" "r.(?)" "p.(Glu1628Asp)" "" "0000995714" "00024025" "50" "4832" "0" "4832" "0" "c.4832C>A" "r.(?)" "p.(Thr1611Asn)" "" "0000995715" "00024025" "50" "4328" "0" "4328" "0" "c.4328A>T" "r.(?)" "p.(Lys1443Met)" "" "0000995716" "00024025" "50" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Arg1401Gln)" "" "0000995717" "00024025" "30" "4000" "0" "4000" "0" "c.4000G>C" "r.(?)" "p.(Gly1334Arg)" "" "0000995718" "00024025" "50" "2843" "0" "2843" "0" "c.2843C>T" "r.(?)" "p.(Pro948Leu)" "" "0000995719" "00024025" "50" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Gly883Ser)" "" "0000995720" "00024025" "50" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Gly874Arg)" "" "0000995721" "00024025" "50" "2112" "0" "2112" "0" "c.2112C>G" "r.(?)" "p.(Asn704Lys)" "" "0000995722" "00024025" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000995723" "00024025" "30" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Ser305Leu)" "" "0000995724" "00024025" "50" "798" "56" "798" "56" "c.798+56C>T" "r.(=)" "p.(=)" "" "0001025222" "00024025" "30" "2431" "-18" "2431" "-18" "c.2431-18del" "r.(=)" "p.(=)" "" "0001035712" "00024025" "30" "5071" "-7" "5071" "-7" "c.5071-7C>G" "r.(=)" "p.(=)" "" "0001035713" "00024025" "50" "4898" "0" "4898" "0" "c.4898G>A" "r.(?)" "p.(Gly1633Asp)" "" "0001035714" "00024025" "50" "4652" "0" "4652" "0" "c.4652G>A" "r.(?)" "p.(Arg1551Gln)" "" "0001035715" "00024025" "50" "4291" "0" "4291" "0" "c.4291C>T" "r.(?)" "p.(Arg1431Trp)" "" "0001035716" "00024025" "50" "4266" "0" "4266" "0" "c.4266G>A" "r.(?)" "p.(=)" "" "0001035717" "00024025" "50" "4255" "0" "4255" "0" "c.4255A>C" "r.(?)" "p.(Ile1419Leu)" "" "0001035718" "00024025" "50" "3788" "0" "3788" "0" "c.3788A>G" "r.(?)" "p.(Lys1263Arg)" "" "0001035719" "00024025" "50" "2215" "-2" "2215" "-2" "c.2215-2A>G" "r.spl?" "p.?" "" "0001035720" "00024025" "90" "2086" "0" "2086" "0" "c.2086del" "r.(?)" "p.(Glu696Lysfs*19)" "" "0001035721" "00024025" "90" "2081" "0" "2083" "0" "c.2081_2083del" "r.(?)" "p.(Gly694_Lys695delinsGlu)" "" "0001035722" "00024025" "30" "2070" "3" "2070" "3" "c.2070+3G>A" "r.spl?" "p.?" "" "0001035723" "00024025" "30" "1819" "-18" "1819" "-9" "c.1819-18_1819-9del" "r.(=)" "p.(=)" "" "0001035724" "00024025" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0001035725" "00024025" "70" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344*)" "" "0001035726" "00024025" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0001035727" "00024025" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0001035728" "00024025" "50" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ala145Gly)" "" "0001046063" "00024025" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000059106" "0000089903" "0000059108" "0000089905" "0000284339" "0000640081" "0000284340" "0000640082" "0000284341" "0000640083" "0000284342" "0000640084" "0000284343" "0000640085" "0000284344" "0000640086" "0000284345" "0000640087" "0000284346" "0000640088" "0000284347" "0000640089" "0000284348" "0000640090" "0000284349" "0000640091" "0000284350" "0000640092" "0000284351" "0000640093" "0000284352" "0000640094" "0000284353" "0000640095" "0000284354" "0000640096" "0000284355" "0000640097" "0000284356" "0000640098" "0000284357" "0000640099" "0000284358" "0000640100" "0000284359" "0000640101" "0000284360" "0000640102" "0000284361" "0000640103" "0000284362" "0000640104" "0000284363" "0000640105" "0000284364" "0000640106" "0000284365" "0000640107" "0000284366" "0000640108" "0000284367" "0000640109" "0000284368" "0000640110" "0000284369" "0000640111" "0000284370" "0000640112" "0000284371" "0000640113" "0000284372" "0000640114" "0000284373" "0000640115" "0000284374" "0000640116" "0000284375" "0000640117" "0000284376" "0000640118" "0000284377" "0000640119" "0000284378" "0000640120" "0000284379" "0000640121" "0000284380" "0000640122" "0000284381" "0000640123" "0000284382" "0000640124" "0000284383" "0000640125" "0000284384" "0000640126" "0000284385" "0000640127" "0000284386" "0000640128" "0000284387" "0000640129" "0000284388" "0000640130" "0000284389" "0000640131" "0000284390" "0000640132" "0000284391" "0000640133" "0000284392" "0000640134" "0000284393" "0000640135" "0000284394" "0000640136" "0000284395" "0000640137" "0000284396" "0000640138" "0000284397" "0000640139" "0000290452" "0000647119" "0000295252" "0000651941" "0000295253" "0000651942" "0000295254" "0000651943" "0000295255" "0000651944" "0000295256" "0000651945" "0000295257" "0000651946" "0000306220" "0000669908" "0000306221" "0000669909" "0000306222" "0000669910" "0000312170" "0000687722" "0000332584" "0000729866" "0000332585" "0000729867" "0000360193" "0000759998" "0000375889" "0000787240" "0000376194" "0000787780" "0000398637" "0000830853" "0000433236" "0000918871" "0000433237" "0000918872" "0000433241" "0000918876" "0000433251" "0000918886" "0000433258" "0000918893" "0000433262" "0000918897" "0000433262" "0000918910" "0000442998" "0000944357" "0000443032" "0000944391" "0000443032" "0000944451"