### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL11A1) # 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}}" "COL11A1" "collagen, type XI, alpha 1" "1" "p21" "unknown" "NG_008033.2" "UD_132118670620" "" "https://www.LOVD.nl/COL11A1" "" "1" "2186" "1301" "120280" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/COL11A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-04 12:31:10" "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}}" "00025673" "COL11A1" "transcript variant A" "004" "NM_001854.3" "" "NP_001845.3" "" "" "" "-318" "6973" "5421" "103574052" "103342023" "00006" "2021-12-27 10:47:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 21 "{{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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00551" "STL2" "Stickler syndrome, type II (STL-2)" "AD" "604841" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00552" "MRSHS" "Marshall syndrome (MRSHS)" "AD" "154780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00553" "FBCG1" "fibrochondrogenesis, type 1 (FBCG-1)" "AR" "228520" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00692" "SED" "dysplasia, spondyloperipheral (SED)" "AD" "271700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02474" "IDD" "intervertebral disc disease (IDD)" "" "603932" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-13 12:24:43" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04223" "FBCG" "fibrochondrogenesis (FBCG)" "" "" "" "" "" "00006" "2015-03-13 12:13:59" "" "" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "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" "" "" "06058" "DFNA37" "?Deafness, autosomal dominant 37" "AD" "618533" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06758" "EDSCLL2" "Ehlers-Danlos syndrome, classic-like, 2" "AR" "618000" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "COL11A1" "00551" "COL11A1" "00552" "COL11A1" "00553" "COL11A1" "02474" "COL11A1" "06058" ## Individuals ## Do not remove or alter this header ## ## Count = 166 "{{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}}" "00002994" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00003006" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00050547" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00051539" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00080062" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00100069" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD077;61077" "00100087" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD138;61138" "00104003" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-124A" "00132073" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "1" "00238991" "" "" "" "1" "" "01280" "" "" "F" "no" "" "" "0" "" "" "" "" "00281846" "" "" "" "1" "" "00004" "{PMID:Richards 2013:23922384}" "" "" "" "" "" "0" "" "" "" "" "00281847" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281848" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281849" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281850" "" "" "" "1" "" "00004" "{PMID:Poulson 2004:15286167}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281851" "" "" "" "1" "" "00004" "{PMID:Majava 2007:17236192}" "" "" "" "" "" "0" "" "" "" "" "00281852" "" "" "" "1" "" "00004" "{PMID:Richards 2013:23922384}" "" "" "" "" "" "0" "" "" "" "" "00281853" "" "" "" "1" "" "00004" "{PMID:Majava 2007:17236192}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281854" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281855" "" "" "" "1" "" "00004" "{PMID:Akawi 2012:21668896}" "" "" "" "" "" "0" "" "" "" "" "00281856" "" "" "" "1" "" "00004" "{PMID:Majava 2007:17236192}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281857" "" "" "" "1" "" "00004" "{PMID:Poulson 2004:15286167}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281858" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}" "" "" "" "" "" "0" "" "" "" "" "00281859" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281860" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281861" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281862" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}" "" "" "" "" "" "0" "" "" "" "" "00281863" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}" "" "" "" "" "" "0" "" "" "" "" "00281864" "" "" "" "1" "" "00004" "{PMID:Majava 2007:17236192}, {PMID:Ala-Kokko 2009:19449424}, {PMID:MARSHALL 1958:13520885}, {PMID:Shanske 1998:9792885}, {PMID:Shanske 1997:9129742}, {PMID:Griffith 1998:9529347}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281865" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281866" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281867" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00281868" "" "" "" "1" "" "00004" "{PMID:Akawi 2012:21668896}, {PMID:Akawi 2013:23906683}" "" "" "" "" "" "0" "" "" "" "" "00281869" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281870" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281871" "" "" "" "1" "" "00004" "{PMID:Hufnagel 2014:25091507}" "" "" "" "" "" "0" "" "" "" "" "00281872" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2003:12673280}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281873" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281874" "" "" "" "1" "" "00004" "{PMID:Richards 2012:22189268}" "" "" "" "" "" "0" "" "" "" "" "00281875" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}" "" "" "" "" "" "0" "" "" "" "" "00281876" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281877" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}" "" "" "" "" "" "0" "" "" "" "" "00281878" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281879" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281880" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Zlotogora 1992:1536174}" "" "" "" "" "" "0" "" "" "" "" "00281881" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281882" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281883" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}" "" "" "" "" "" "0" "" "" "" "" "00281884" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281885" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00281886" "" "" "" "1" "" "00004" "{PMID:Khalifa 2012:22499343}" "" "" "" "" "" "0" "" "" "" "" "00281887" "" "" "" "1" "" "00004" "{PMID:Richards 2013:23922384}" "" "" "" "" "" "0" "" "" "" "" "00281888" "" "" "" "1" "" "00004" "{PMID:Melkoniemi 2003:12673280}" "" "" "" "" "" "0" "" "" "" "" "00281889" "" "" "" "1" "" "00004" "{PMID:Yuen 2015:25621899}" "" "" "" "" "" "0" "" "" "" "" "00281890" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}" "" "" "" "" "" "0" "" "" "" "" "00281891" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}" "" "" "" "" "" "0" "" "" "" "" "00281892" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281893" "" "" "" "1" "" "00004" "{PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281894" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281895" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281896" "" "" "" "1" "" "00004" "{PMID:Robin 1993:20301479}, {PMID:Richards 1996:8872475}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281897" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281898" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281899" "" "" "" "1" "" "00004" "{PMID:Tompson 2010:21035103}" "" "" "" "" "" "0" "" "" "" "" "00281900" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}" "" "" "" "" "" "0" "" "" "" "" "00281901" "" "" "" "1" "" "00004" "{PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281902" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281903" "" "" "" "1" "" "00004" "{PMID:Martin 1999:10573014}" "" "" "" "" "" "0" "" "" "" "" "00281904" "" "" "" "1" "" "00004" "{PMID:Acke 2014:25240749}" "" "" "" "" "" "0" "" "" "" "" "00281905" "" "" "" "1" "" "00004" "{PMID:Richards 2013:23922384}" "" "" "" "" "" "0" "" "" "" "" "00281906" "" "" "" "1" "" "00004" "{PMID:Alzahrani 2012:23026214}" "" "" "" "" "" "0" "" "" "" "" "00281907" "" "" "" "1" "" "00004" "{PMID:Richards 2013:23922384}" "" "" "" "" "" "0" "" "" "" "" "00281908" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00281909" "" "" "" "1" "" "00004" "{PMID:Tilson MD 3rd 2006:17182944}" "" "" "" "" "" "0" "" "" "" "" "00281910" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00281911" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00289463" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289464" "" "" "" "123" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304132" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306776" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00309810" "" "" "" "2" "" "02404" "{PMID:Rad 2020:33169910}" "family, 2 affected" "F;M" "no" "Germany" "" "0" "" "" "" "Family 1" "00309811" "" "" "" "2" "" "02404" "{PMID:Rad 2020:33169910}" "family, 2 affected" "F;M" "no" "Germany" "" "0" "" "" "" "Family 2" "00309838" "" "" "00309810" "1" "" "02404" "{PMID:Rad 2020:33169910}" "2nd case" "F;M" "no" "Germany" "" "0" "" "" "" "Family 1" "00309839" "" "" "00309811" "1" "" "02404" "{PMID:Rad 2020:33169910}" "2nd case" "F;M" "no" "Germany" "" "0" "" "" "" "Family 2" "00311014" "" "" "" "1" "" "02544" "" "" "F" "?" "Italy" "" "0" "" "" "" "" "00311016" "" "" "" "1" "" "02544" "" "" "" "" "(Italy)" "" "" "" "" "" "" "00311020" "" "" "" "1" "" "02544" "" "" "F" "" "Italy" "" "" "" "" "" "" "00311022" "" "" "" "1" "" "02544" "" "" "F" "" "Italy" "" "" "" "" "" "" "00320154" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00324654" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "173550" "00328374" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690510" "00328375" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690896" "00328376" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680925" "00328377" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690777" "00328378" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "691016" "00328379" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690034M" "00328380" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690715" "00331362" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "14DG1059, 14DG1060" "00331363" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "15DG0723" "00331364" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG1963" "00332525" "" "" "" "1" "" "00006" "{PMID:Comander 2017:28981474}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00334454" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-009" "00358979" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71808" "00359002" "" "" "" "1" "" "03149" "" "" "F" "no" "Brazil" "" "" "" "" "" "03149" "00363340" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM790" "00363341" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM713" "00363342" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM656" "00363343" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM878" "00363344" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM813" "00372628" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP373" "00372675" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP298" "00372709" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP205" "00375417" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#009" "00379478" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379479" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379480" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379481" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379482" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379483" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379484" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379743" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0085" "00383694" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2645" "00384233" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "11926" "00384482" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14817" "00384493" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14903" "00385459" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14007961" "00392257" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "2" "00394373" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "S1" "00397616" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "" "" "China" "" "0" "" "" "" "Tab4-Pat9" "00417014" "" "" "" "1" "" "02544" "{PMID:Micale 2020:33348901}" "" "" "" "Italy" "" "0" "" "" "" "" "00417015" "" "" "" "1" "" "02544" "{PMID:Micale 2020:33348901}" "" "" "" "Italy" "" "0" "" "" "" "" "00417017" "" "" "" "1" "" "02544" "{PMID:Micale 2020:33348901}" "" "" "" "Italy" "" "0" "" "" "" "" "00417018" "" "" "" "1" "" "02544" "{PMID:Micale 2020:33348901}" "" "" "" "Italy" "" "0" "" "" "" "" "00417023" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417025" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417029" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417032" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417035" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417037" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417046" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417065" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417067" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417071" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417100" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417104" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417105" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417109" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417121" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417123" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417129" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417147" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417151" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00419611" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8010" "00431786" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0143" "00431800" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0160" "00441483" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR132" "00441545" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4430" "00444186" "" "" "" "2" "" "00006" "{PMID:Choi 2021:34680973}" "family, 2 patients" "" "" "Korea" "" "0" "" "" "" "FamG" "00444187" "" "" "" "2" "" "00006" "{PMID:Choi 2021:34680973}" "family, 2 patients" "" "" "Korea" "" "0" "" "" "" "FamH" "00444198" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamS" "00444200" "" "" "" "2" "" "00006" "{PMID:Choi 2021:34680973}" "family, 2 patients" "" "" "Korea" "" "0" "" "" "" "FamU" "00446554" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/son" "M" "" "China" "" "0" "" "" "" "Fam164Pat440" "00446555" "" "" "00446554" "1" "" "00006" "{PMID:Liu 2023:37337769}" "unaffected mother" "F" "" "China" "" "0" "" "" "" "Fam164Pat442" "00447570" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-312" "00457221" "" "" "" "1" "" "04693" "{PMID:Ha 2024:38674395}" "16-year-old female patient of Syrian descent with a clinical diagnosis of clEDS2, short stature, and premature birth; unaffected heterozygous carrier parents" "F" "no" "Syria" "" "0" "" "" "" "patient" "00464064" "" "" "" "1" "" "01164" "" "" "F" "no" "Greece" "" "0" "" "" "" "320266" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 163 "{{individualid}}" "{{diseaseid}}" "00002994" "00198" "00003006" "00198" "00050547" "00198" "00051539" "00198" "00080062" "05103" "00100069" "00381" "00100087" "04214" "00104003" "03381" "00132073" "04223" "00238991" "00551" "00281846" "04224" "00281847" "04224" "00281848" "00198" "00281849" "04224" "00281850" "04224" "00281851" "00198" "00281852" "04224" "00281853" "00198" "00281854" "00198" "00281855" "00198" "00281856" "00198" "00281857" "04224" "00281858" "00198" "00281859" "00198" "00281860" "04224" "00281861" "00198" "00281862" "00198" "00281863" "00198" "00281864" "00198" "00281865" "00198" "00281866" "04224" "00281868" "00198" "00281869" "00198" "00281870" "04224" "00281871" "00198" "00281872" "00198" "00281873" "00198" "00281874" "04224" "00281875" "00198" "00281876" "04224" "00281877" "04224" "00281878" "00198" "00281879" "04224" "00281880" "00198" "00281881" "00198" "00281882" "00198" "00281883" "00198" "00281884" "04224" "00281885" "05103" "00281886" "00198" "00281887" "04224" "00281888" "00198" "00281889" "00138" "00281890" "00198" "00281891" "00198" "00281892" "04224" "00281893" "00198" "00281894" "04224" "00281895" "04224" "00281896" "04224" "00281897" "04224" "00281898" "04224" "00281899" "00198" "00281900" "04224" "00281901" "04224" "00281902" "04224" "00281903" "04224" "00281904" "04224" "00281905" "04224" "00281906" "00198" "00281907" "04224" "00281909" "00198" "00281910" "05103" "00289463" "00198" "00289464" "00198" "00304132" "00198" "00306776" "00198" "00309810" "00350" "00309811" "00350" "00309838" "00350" "00309839" "00350" "00311014" "04224" "00311016" "04224" "00311020" "04224" "00311022" "04224" "00320154" "00198" "00324654" "00551" "00328374" "04214" "00328375" "04214" "00328376" "04214" "00328377" "04214" "00328378" "04214" "00328379" "04214" "00328380" "04214" "00331362" "05517" "00331363" "05517" "00331364" "05517" "00332525" "04214" "00334454" "04214" "00358979" "04214" "00359002" "00552" "00363340" "04214" "00363341" "04214" "00363342" "04214" "00363343" "04214" "00363344" "04214" "00372628" "04214" "00372675" "04214" "00372709" "04214" "00375417" "04214" "00379478" "04214" "00379479" "04214" "00379480" "04214" "00379481" "04214" "00379482" "04214" "00379483" "04214" "00379484" "04214" "00379743" "04224" "00383694" "04214" "00384233" "04214" "00384482" "04214" "00384493" "04214" "00385459" "04214" "00392257" "04214" "00394373" "04214" "00397616" "06887" "00417014" "04224" "00417015" "04224" "00417017" "04224" "00417018" "04224" "00417023" "04224" "00417025" "04224" "00417029" "00198" "00417032" "00198" "00417035" "00198" "00417037" "04224" "00417046" "00198" "00417065" "00198" "00417067" "00198" "00417071" "00198" "00417100" "00198" "00417104" "00198" "00417105" "00198" "00417109" "00198" "00417121" "00692" "00417123" "00198" "00417129" "00198" "00417147" "00198" "00417151" "00198" "00419611" "00198" "00431786" "00198" "00431800" "00198" "00441483" "05086" "00441545" "00000" "00444186" "04224" "00444187" "04224" "00444198" "04224" "00444200" "04224" "00446554" "00296" "00446555" "00000" "00447570" "00198" "00457221" "06758" "00464064" "00552" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 00296, 00350, 00381, 00551, 00552, 00553, 00692, 02474, 03381, 04214, 04223, 04224, 05086, 05103, 05517, 06058, 06758, 06887 ## Count = 153 "{{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}}" "0000001845" "00198" "00002994" "00130" "Familial, autosomal dominant" "" "progressive hearing loss with comorbidity" "" "" "" "" "" "" "" "" "" "" "" "0000001857" "00198" "00003006" "00130" "Isolated (sporadic)" "" "bowlshaped hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000037159" "00198" "00050547" "00006" "Isolated (sporadic)" "" "global developmental delay, astigmatism, narrow mouth, dental crowding, narrow chest" "" "" "" "" "" "" "" "" "" "" "" "0000038130" "00198" "00051539" "01396" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078310" "00381" "00100069" "01769" "Familial, autosomal recessive" "" "early onset RD" "" "" "" "" "" "" "" "" "" "" "" "0000078326" "04214" "00100087" "01769" "Familial, autosomal recessive" "" "RP, deafness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000081937" "03381" "00104003" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000104263" "04223" "00132073" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000179277" "00551" "00238991" "01280" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "Stickler syndrome with severe hearing loss" "" "" "0000216400" "00138" "00281889" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Autism spectrum disorder" "" "0000216424" "00198" "00281848" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216425" "00198" "00281851" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216426" "00198" "00281853" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216427" "00198" "00281854" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216428" "00198" "00281855" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216429" "00198" "00281856" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216430" "00198" "00281858" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216432" "00198" "00281859" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216433" "00198" "00281861" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216434" "00198" "00281862" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216435" "00198" "00281863" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216436" "00198" "00281864" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216437" "00198" "00281865" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216438" "00198" "00281868" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216439" "00198" "00281869" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216440" "00198" "00281871" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Skeletal dysplasia" "" "0000216441" "00198" "00281872" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216442" "00198" "00281873" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216443" "00198" "00281875" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216444" "00198" "00281878" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216445" "00198" "00281880" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216446" "00198" "00281881" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216447" "00198" "00281882" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216448" "00198" "00281883" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216449" "00198" "00281886" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marshall syndrome" "" "0000216450" "00198" "00281888" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Robin sequence" "" "0000216451" "00198" "00281890" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216452" "00198" "00281891" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216453" "00198" "00281893" "00008" "Unknown" "" "stickler syndrome" "" "" "" "" "" "" "" "" "" "Marshall" "" "0000216454" "00198" "00281899" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216455" "00198" "00281906" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Fibrochondrogenesis" "" "0000216456" "00198" "00281909" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sporadic abdominal aortic aneurysm" "" "0000218020" "04224" "00281846" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218021" "04224" "00281847" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218022" "04224" "00281849" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218023" "04224" "00281850" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218024" "04224" "00281852" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218025" "04224" "00281857" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218026" "04224" "00281860" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218027" "04224" "00281866" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218028" "04224" "00281870" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218029" "04224" "00281874" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218030" "04224" "00281876" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218031" "04224" "00281877" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218032" "04224" "00281879" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218033" "04224" "00281884" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218034" "04224" "00281887" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218035" "04224" "00281892" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218036" "04224" "00281894" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218037" "04224" "00281895" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218038" "04224" "00281896" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218039" "04224" "00281897" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218040" "04224" "00281898" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218041" "04224" "00281900" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218042" "04224" "00281901" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218043" "04224" "00281902" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218044" "04224" "00281903" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218045" "04224" "00281904" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000218046" "04224" "00281905" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218047" "04224" "00281907" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Stickler syndrome" "" "0000218340" "05103" "00281885" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218341" "05103" "00281910" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000232604" "00198" "00306776" "01807" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000235121" "00350" "00309810" "02404" "Familial, autosomal dominant" "38y" "DFNA37" "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000235123" "00350" "00309811" "02404" "Familial, autosomal dominant" "31y" "DFNA37" "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000235153" "00350" "00309838" "02404" "Familial, autosomal dominant" "06y05m" "DFNA37" "" "00y" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000235155" "00350" "00309839" "02404" "Familial, autosomal dominant" "03y06m" "DFNA37" "" "00y" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000236283" "04224" "00311014" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Stickler syndrome" "" "0000242200" "00198" "00320154" "01807" "Unknown" "" "Pierre-Robin sequence (HP:0000201); Cleft palate (HP:0000175); Recurrent fractures (HP:0002757); Anteverted nares (HP:0000463); Long philtrum (HP:0000343); Retrognathia (HP:0000278); Bulbous nose (HP:0000414)" "" "" "" "" "" "" "" "" "" "" "" "0000243158" "00551" "00324654" "01164" "Unknown" "32y" "high myopia; hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000246600" "04214" "00328374" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246601" "04214" "00328375" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246602" "04214" "00328376" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000246603" "04214" "00328377" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246604" "04214" "00328378" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246605" "04214" "00328379" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246606" "04214" "00328380" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000249554" "05517" "00331362" "00000" "Familial, autosomal recessive" "" "Global Developmental delay, Short stature, Hearing impairment, Abnormal facial shape, HNo" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249555" "05517" "00331363" "00000" "Familial, autosomal dominant" "" "Flat face" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249556" "05517" "00331364" "00000" "Familial, autosomal dominant" "" "Tractional retinal detachment" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000250713" "04214" "00332525" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "pericentral retinitis pigmentosa" "" "0000252543" "04214" "00334454" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stickler syndrome / Marshall syndrome" "" "0000254277" "04214" "00358979" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258705" "04214" "00363340" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258706" "04214" "00363341" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258707" "04214" "00363342" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258708" "04214" "00363343" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258709" "04214" "00363344" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267907" "04214" "00372628" "00000" "Familial, autosomal dominant" "45y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267954" "04214" "00372675" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "28y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267988" "04214" "00372709" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270631" "04214" "00375417" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273351" "04214" "00379478" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273352" "04214" "00379479" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273353" "04214" "00379480" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000273354" "04214" "00379481" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273355" "04214" "00379482" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273356" "04214" "00379483" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273357" "04214" "00379484" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273597" "04224" "00379743" "03508" "Familial, autosomal dominant" "" "HP:0030515,\tHP:0000639,\tHP:0000365,\tHP:0001263,\tHP:0000006,\tHP:0011003,\tHP:0000175,\tHP:0003196,\tHP:0004327,\tHP:0000519" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000277479" "04214" "00383694" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278018" "04214" "00384233" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000278267" "04214" "00384482" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278278" "04214" "00384493" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Coloboma" "" "0000279254" "04214" "00385459" "00000" "Familial, autosomal dominant" "" "" "4y" "" "" "" "" "" "" "" "" "congenital cataract; congenital glaucoma" "" "0000285535" "04214" "00392257" "00000" "Familial, autosomal dominant" "34y" "Aphakia (postsurgical), macular atrophy, myopia, lens subluxation, vitreousanomaly" "" "7y9m" "" "" "" "" "" "" "Stickler syndrome, type II" "" "" "0000287577" "04214" "00394373" "00000" "Familial, autosomal dominant" "" "Visual impairment 23 y due to retinal detachment. Myopia. Hypermobility in joints.," "23y" "" "" "" "" "" "" "" "Stickler syndrome" "" "" "0000290740" "06887" "00397616" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "STL2" "Stickler syndrome" "" "0000308524" "04224" "00417014" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308525" "04224" "00417015" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308527" "04224" "00417017" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308528" "04224" "00417018" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308533" "04224" "00417023" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308535" "04224" "00417025" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308539" "00198" "00417029" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308542" "00198" "00417032" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308545" "00198" "00417035" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308547" "04224" "00417037" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308556" "00198" "00417046" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308575" "00198" "00417065" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308577" "00198" "00417067" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308581" "00198" "00417071" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308610" "00198" "00417100" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308614" "00198" "00417104" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308615" "00198" "00417105" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308619" "00198" "00417109" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308631" "00692" "00417121" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spondyloperipheral dysplasia" "" "0000308633" "00198" "00417123" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308639" "00198" "00417129" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308657" "00198" "00417147" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308661" "00198" "00417151" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000310892" "00198" "00419611" "02300" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000322355" "00198" "00431786" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322369" "00198" "00431800" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000330921" "05086" "00441483" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000333438" "04224" "00444186" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "STL2" "Stickler syndrome" "" "0000333439" "04224" "00444187" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "STL2" "Stickler syndrome" "" "0000333450" "04224" "00444198" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "STL2" "Stickler syndrome" "" "0000333452" "04224" "00444200" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "STL2" "Stickler syndrome" "" "0000335758" "00296" "00446554" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000336769" "00198" "00447570" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000345714" "06758" "00457221" "04693" "Familial, autosomal recessive" "16y" "Congenital bilateral hip dislocation (HP:0008780); varicose veins (HP:0002619), short stature (HP:0004322); increased muscle fatiguability (HP:0003750); hyperextensible skin (HP:0000974); bruising susceptibility (HP:0000978); generalized joint hypermobility (HP:0002761); limb pain (HP:0009763); dry hair (HP:0011359); sparse scalp hair (HP:0002209); brittle scalp hair (HP:0004779); narrow face (HP:0000275); narrow nasal bridge (HP:0000446); thin skin (HP:0000963); cigarette-paper scars (HP:0001073); keloids (HP:0010562); increased laxity of fingers (HP:0006149); pes planus (HP:0001763); herniation of intervertebral nuclei (HP:0008441);" "00y" "16y" "Congenital bilateral hip dislocation (HP:0008780)" "" "" "" "" "" "EDSCLL2" "Ehlers-Danlos syndrome" "" "0000350125" "00552" "00464064" "01164" "Unknown" "01y" "Pierre-Robin sequence, Cleft palate, Hearing impairment, Patent foramen ovale, Patent ductus arteriosus, Short stature, Hypotonia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 166 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002900" "00002994" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002912" "00003006" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000050492" "00050547" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000051488" "00051539" "1" "01396" "01396" "2015-10-01 16:54:34" "" "" "SEQ-NG-IT" "DNA" "" "" "0000080141" "00080062" "1" "01740" "01740" "2016-09-01 14:21:44" "" "" "SEQ-NG" "DNA" "" "" "0000100472" "00100069" "1" "01769" "01769" "2017-01-30 15:24:52" "" "" "SEQ" "DNA" "WBC" "" "0000100490" "00100087" "1" "01769" "01769" "2017-01-30 17:00:20" "" "" "SEQ" "DNA" "WBC" "" "0000104474" "00104003" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000132912" "00132073" "1" "01396" "01396" "2017-10-18 18:47:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000240097" "00238991" "1" "01280" "01280" "2019-05-30 12:26:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000282996" "00281846" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282997" "00281847" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282998" "00281848" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282999" "00281849" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283000" "00281850" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283001" "00281851" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283002" "00281852" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283003" "00281853" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283004" "00281854" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283005" "00281855" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283006" "00281856" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283007" "00281857" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283008" "00281858" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283009" "00281859" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283010" "00281860" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283011" "00281861" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283012" "00281862" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283013" "00281863" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283014" "00281864" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283015" "00281865" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283016" "00281866" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283017" "00281867" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283018" "00281868" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283019" "00281869" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283020" "00281870" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283021" "00281871" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283022" "00281872" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283023" "00281873" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283024" "00281874" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283025" "00281875" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283026" "00281876" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283027" "00281877" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283028" "00281878" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283029" "00281879" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283030" "00281880" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283031" "00281881" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283032" "00281882" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283033" "00281883" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283034" "00281884" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283035" "00281885" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283036" "00281886" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283037" "00281887" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283038" "00281888" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283039" "00281889" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283040" "00281890" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283041" "00281891" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283042" "00281892" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283043" "00281893" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283044" "00281894" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283045" "00281895" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283046" "00281896" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283047" "00281897" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283048" "00281898" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283049" "00281899" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283050" "00281900" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283051" "00281901" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283052" "00281902" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283053" "00281903" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283054" "00281904" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283055" "00281905" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283056" "00281906" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283057" "00281907" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283058" "00281908" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283059" "00281909" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283060" "00281910" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283061" "00281911" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000290631" "00289463" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290632" "00289464" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305261" "00304132" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307912" "00306776" "1" "01807" "01807" "2020-07-20 10:34:01" "" "" "SEQ" "DNA" "" "" "0000310955" "00309810" "1" "02404" "02404" "2020-09-03 18:45:44" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "" "0000310956" "00309811" "1" "02404" "02404" "2020-09-03 19:00:39" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "" "0000310983" "00309838" "1" "02404" "02404" "2020-09-03 18:45:44" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "" "0000310984" "00309839" "1" "02404" "02404" "2020-09-03 19:00:39" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "" "0000312166" "00311014" "1" "02544" "02544" "2020-09-14 09:30:51" "" "" "SEQ-NG" "DNA" "blood" "" "0000312168" "00311016" "1" "02544" "02544" "2020-09-14 09:48:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000312172" "00311020" "1" "02544" "02544" "2020-09-14 10:01:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000312174" "00311022" "1" "02544" "02544" "2020-09-14 10:05:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000321339" "00320154" "1" "01807" "01807" "2020-11-23 17:38:15" "" "" "SEQ" "DNA" "" "" "0000325853" "00324654" "1" "01164" "01164" "2020-12-21 12:48:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000329588" "00328374" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329589" "00328375" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329590" "00328376" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329591" "00328377" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329592" "00328378" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329593" "00328379" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329594" "00328380" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000332581" "00331362" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332582" "00331363" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332583" "00331364" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333749" "00332525" "1" "00000" "00006" "2021-02-20 09:48:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000335683" "00334454" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000360216" "00358979" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360511" "00359002" "1" "03149" "03149" "2021-03-18 19:23:58" "03149" "2021-03-24 12:05:03" "SEQ-NG-IT" "DNA" "blood" "Dorita" "0000364568" "00363340" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364569" "00363341" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364570" "00363342" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364571" "00363343" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364572" "00363344" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373860" "00372628" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373907" "00372675" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373941" "00372709" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376614" "00375417" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000380678" "00379478" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380679" "00379479" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380680" "00379480" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380681" "00379481" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380682" "00379482" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380683" "00379483" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380684" "00379484" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380945" "00379743" "1" "03508" "03508" "2021-08-09 03:35:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000384919" "00383694" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000385458" "00384233" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385707" "00384482" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385718" "00384493" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386688" "00385459" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000393499" "00392257" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000395620" "00394373" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000398854" "00397616" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000418294" "00417014" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418295" "00417015" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418297" "00417017" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418298" "00417018" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418303" "00417023" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418305" "00417025" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418309" "00417029" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418312" "00417032" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418315" "00417035" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418317" "00417037" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418326" "00417046" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418345" "00417065" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418347" "00417067" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418351" "00417071" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418380" "00417100" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418384" "00417104" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418385" "00417105" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418389" "00417109" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418401" "00417121" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418403" "00417123" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418409" "00417129" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418427" "00417147" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418431" "00417151" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000420915" "00419611" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433225" "00431786" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433239" "00431800" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000442969" "00441483" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443031" "00441545" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000445684" "00444186" "1" "00006" "00006" "2023-12-20 19:30:34" "" "" "SEQ" "DNA" "" "" "0000445685" "00444187" "1" "00006" "00006" "2023-12-20 19:30:34" "" "" "SEQ" "DNA" "" "" "0000445696" "00444198" "1" "00006" "00006" "2023-12-20 19:30:34" "" "" "SEQ" "DNA" "" "" "0000445698" "00444200" "1" "00006" "00006" "2023-12-20 19:30:34" "" "" "SEQ" "DNA" "" "" "0000448127" "00446554" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448128" "00446555" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000449147" "00447570" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000458840" "00457221" "1" "04693" "04693" "2024-11-02 13:15:16" "" "" "SEQ-NG" "DNA" "" "Blueprint Genetics Ehlers-Danlos Syndrome Panel (41 genes)" "0000465695" "00464064" "1" "01164" "01164" "2025-02-18 13:10:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 120 "{{screeningid}}" "{{geneid}}" "0000002900" "COL11A1" "0000002912" "COL11A1" "0000050492" "COL11A1" "0000051488" "COL11A1" "0000051488" "COL11A2" "0000100472" "GUCY2D" "0000100490" "USH2A" "0000132912" "COL11A1" "0000132912" "COL11A2" "0000240097" "COL11A1" "0000240097" "COL11A2" "0000240097" "COL2A1" "0000240097" "COL9A1" "0000240097" "COL9A2" "0000240097" "COL9A3" "0000282996" "COL11A1" "0000282997" "COL11A1" "0000282998" "COL11A1" "0000282999" "COL11A1" "0000283000" "COL11A1" "0000283001" "COL11A1" "0000283002" "COL11A1" "0000283003" "COL11A1" "0000283004" "COL11A1" "0000283005" "COL11A1" "0000283006" "COL11A1" "0000283007" "COL11A1" "0000283008" "COL11A1" "0000283009" "COL11A1" "0000283010" "COL11A1" "0000283011" "COL11A1" "0000283012" "COL11A1" "0000283013" "COL11A1" "0000283014" "COL11A1" "0000283015" "COL11A1" "0000283016" "COL11A1" "0000283017" "COL11A1" "0000283018" "COL11A1" "0000283019" "COL11A1" "0000283020" "COL11A1" "0000283021" "COL11A1" "0000283022" "COL11A1" "0000283023" "COL11A1" "0000283024" "COL11A1" "0000283025" "COL11A1" "0000283026" "COL11A1" "0000283027" "COL11A1" "0000283028" "COL11A1" "0000283029" "COL11A1" "0000283030" "COL11A1" "0000283031" "COL11A1" "0000283032" "COL11A1" "0000283033" "COL11A1" "0000283034" "COL11A1" "0000283035" "COL11A1" "0000283036" "COL11A1" "0000283037" "COL11A1" "0000283038" "COL11A1" "0000283039" "COL11A1" "0000283040" "COL11A1" "0000283041" "COL11A1" "0000283042" "COL11A1" "0000283043" "COL11A1" "0000283044" "COL11A1" "0000283045" "COL11A1" "0000283046" "COL11A1" "0000283047" "COL11A1" "0000283048" "COL11A1" "0000283049" "COL11A1" "0000283050" "COL11A1" "0000283051" "COL11A1" "0000283052" "COL11A1" "0000283053" "COL11A1" "0000283054" "COL11A1" "0000283055" "COL11A1" "0000283056" "COL11A1" "0000283057" "COL11A1" "0000283058" "COL11A1" "0000283059" "COL11A1" "0000283060" "COL11A1" "0000283061" "COL11A1" "0000325853" "COL11A1" "0000329588" "COL11A1" "0000329589" "COL11A1" "0000329590" "COL11A1" "0000329591" "COL11A1" "0000329592" "COL11A1" "0000329593" "COL11A1" "0000329594" "COL11A1" "0000332581" "COL11A1" "0000332582" "COL11A1" "0000332583" "COL11A1" "0000333749" "COL11A1" "0000333749" "ROM1" "0000335683" "COL11A1" "0000335683" "HMCN1" "0000364568" "COL11A1" "0000364569" "COL11A1" "0000364570" "COL11A1" "0000364571" "COL11A1" "0000364572" "COL11A1" "0000380678" "COL11A1" "0000380679" "COL11A1" "0000380680" "COL11A1" "0000380681" "COL11A1" "0000380682" "COL11A1" "0000380683" "COL11A1" "0000380684" "COL11A1" "0000384919" "PROM1" "0000385458" "COL11A1" "0000385707" "COL11A1" "0000385718" "COL11A1" "0000386688" "COL11A1" "0000393499" "COL11A1" "0000395620" "COL11A1" "0000445684" "COL11A1" "0000445685" "COL11A1" "0000445696" "COL11A1" "0000445698" "COL11A1" "0000465695" "COL11A1" ## 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 = 589 "{{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}}" "0000021266" "1" "70" "1" "103471820" "103471820" "del" "0" "00130" "COL11A1_000001" "g.103471820del" "" "{PMID:Neveling 2013:24123792}" "" "" "-\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "" "" "" "g.103006264del" "" "likely pathogenic" "" "0000021285" "1" "70" "1" "103463913" "103463913" "subst" "0" "00130" "COL11A1_000002" "g.103463913G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "segregation needed to confirm" "Germline/De novo (untested)" "" "" "0" "" "" "g.102998357G>A" "" "likely pathogenic" "" "0000079472" "0" "90" "1" "103427786" "103427786" "subst" "0" "00006" "COL11A1_000004" "g.103427786A>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.102962230A>T" "" "pathogenic" "" "0000080541" "21" "50" "1" "103400026" "103400034" "del" "0" "01396" "COL11A1_000003" "g.103400026_103400034del" "" "" "" "3612_3620delACCTCCTGG" "not in 100 control chromosomes" "Unknown" "" "" "0" "" "" "g.102934470_102934478del" "" "VUS" "" "0000129051" "1" "70" "1" "103474074" "103474074" "del" "0" "01740" "COL11A1_000006" "g.103474074del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.103008518del" "" "likely pathogenic" "" "0000169302" "0" "70" "1" "103481286" "103481286" "subst" "1.67368E-5" "00587" "COL11A1_000007" "g.103481286G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_080629.2(COL11A1):c.1462C>T p.(Arg488Cys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.103015730G>A" "" "likely pathogenic" "" "0000222095" "3" "70" "1" "103496686" "103496686" "del" "0" "01396" "COL11A1_000008" "g.103496686del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103031130del" "" "likely pathogenic" "" "0000245401" "0" "10" "1" "103444970" "103444970" "subst" "0.00768316" "02330" "COL11A1_000052" "g.103444970A>T" "" "" "" "COL11A1(NM_001190709.1):c.2461T>A (p.(Phe821Ile)), COL11A1(NM_080629.2):c.2614T>A (p.F872I), COL11A1(NM_080629.3):c.2614T>A (p.F872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979414A>T" "" "benign" "" "0000245410" "0" "10" "1" "103496818" "103496818" "del" "0" "02330" "COL11A1_000087" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "benign" "" "0000245478" "0" "10" "1" "103364484" "103364484" "subst" "0" "02330" "COL11A1_000022" "g.103364484A>T" "" "" "" "COL11A1(NM_080629.3):c.4176+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898928A>T" "" "benign" "" "0000245479" "0" "10" "1" "103364484" "103364484" "del" "0" "02330" "COL11A1_000023" "g.103364484del" "" "" "" "COL11A1(NM_080629.3):c.4176+13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898928del" "" "benign" "" "0000245481" "0" "10" "1" "103380392" "103380392" "del" "0" "02330" "COL11A1_000034" "g.103380392del" "" "" "" "COL11A1(NM_080629.3):c.3853-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914836del" "" "benign" "" "0000245483" "0" "10" "1" "103487333" "103487333" "subst" "5.28065E-5" "02330" "COL11A1_000071" "g.103487333A>G" "" "" "" "COL11A1(NM_080629.3):c.1282-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103021777A>G" "" "benign" "" "0000245529" "0" "30" "1" "103488342" "103488342" "subst" "8.20055E-6" "02330" "COL11A1_000072" "g.103488342A>G" "" "" "" "COL11A1(NM_001854.4):c.1201T>C (p.(Phe401Leu)), COL11A1(NM_080629.3):c.1237T>C (p.F413L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022786A>G" "" "likely benign" "" "0000245605" "0" "50" "1" "103444666" "103444666" "subst" "8.13756E-6" "02330" "COL11A1_000049" "g.103444666A>G" "" "" "" "COL11A1(NM_080629.3):c.2647-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979110A>G" "" "VUS" "" "0000248297" "0" "10" "1" "103352451" "103352451" "subst" "0.594595" "02325" "COL11A1_000011" "g.103352451A>G" "" "" "" "COL11A1(NM_080629.3):c.4806T>C (p.I1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102886895A>G" "" "benign" "" "0000248322" "0" "10" "1" "103354138" "103354138" "subst" "0.79952" "02325" "COL11A1_000015" "g.103354138A>G" "" "" "" "COL11A1(NM_080629.3):c.4639T>C (p.S1547P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888582A>G" "" "benign" "" "0000248464" "0" "10" "1" "103468336" "103468336" "subst" "0" "02325" "COL11A1_000059" "g.103468336A>C" "" "" "" "COL11A1(NM_080629.3):c.2046T>G (p.G682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103002780A>C" "" "benign" "" "0000248958" "0" "10" "1" "103496818" "103496818" "del" "0" "02325" "COL11A1_000092" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "benign" "" "0000249896" "0" "10" "1" "103496792" "103496792" "subst" "0.0706668" "02329" "COL11A1_000081" "g.103496792A>G" "" "" "" "COL11A1(NM_080629.2):c.660T>C (p.I220=), COL11A1(NM_080629.3):c.660T>C (p.I220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031236A>G" "" "benign" "" "0000250000" "0" "30" "1" "103496818" "103496818" "del" "0" "02329" "COL11A1_000087" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "likely benign" "" "0000250009" "0" "10" "1" "103469989" "103469989" "subst" "0.0296888" "02329" "COL11A1_000061" "g.103469989A>G" "" "" "" "COL11A1(NM_080629.2):c.1980+11T>C, COL11A1(NM_080629.3):c.1980+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103004433A>G" "" "benign" "" "0000250032" "0" "10" "1" "103352451" "103352451" "subst" "0.594595" "02329" "COL11A1_000011" "g.103352451A>G" "" "" "" "COL11A1(NM_080629.3):c.4806T>C (p.I1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102886895A>G" "" "benign" "" "0000250057" "0" "10" "1" "103354138" "103354138" "subst" "0.79952" "02329" "COL11A1_000015" "g.103354138A>G" "" "" "" "COL11A1(NM_080629.3):c.4639T>C (p.S1547P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888582A>G" "" "benign" "" "0000250135" "0" "10" "1" "103548497" "103548497" "subst" "0.0608142" "02329" "COL11A1_000100" "g.103548497A>C" "" "" "" "COL11A1(NM_080629.3):c.138T>G (p.D46E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103082941A>C" "" "benign" "" "0000250178" "0" "10" "1" "103468767" "103468767" "subst" "0.12376" "02329" "COL11A1_000060" "g.103468767A>T" "" "" "" "COL11A1(NM_080629.3):c.2034+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103003211A>T" "" "benign" "" "0000250179" "0" "10" "1" "103544434" "103544434" "subst" "0.150056" "02329" "COL11A1_000099" "g.103544434A>G" "" "" "" "COL11A1(NM_080629.3):c.275-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078878A>G" "" "benign" "" "0000250860" "0" "10" "1" "103496818" "103496818" "del" "0" "02326" "COL11A1_000087" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "benign" "" "0000250869" "0" "10" "1" "103469989" "103469989" "subst" "0.0296888" "02326" "COL11A1_000061" "g.103469989A>G" "" "" "" "COL11A1(NM_080629.2):c.1980+11T>C, COL11A1(NM_080629.3):c.1980+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103004433A>G" "" "benign" "" "0000253120" "0" "10" "1" "103496792" "103496792" "subst" "0.0706668" "01943" "COL11A1_000081" "g.103496792A>G" "" "" "" "COL11A1(NM_080629.2):c.660T>C (p.I220=), COL11A1(NM_080629.3):c.660T>C (p.I220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031236A>G" "" "benign" "" "0000254152" "0" "30" "1" "103444970" "103444970" "subst" "0.00768316" "01943" "COL11A1_000052" "g.103444970A>T" "" "" "" "COL11A1(NM_001190709.1):c.2461T>A (p.(Phe821Ile)), COL11A1(NM_080629.2):c.2614T>A (p.F872I), COL11A1(NM_080629.3):c.2614T>A (p.F872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979414A>T" "" "likely benign" "" "0000254344" "0" "30" "1" "103481263" "103481263" "subst" "0" "01943" "COL11A1_000067" "g.103481263A>G" "" "" "" "COL11A1(NM_080629.2):c.1485T>C (p.D495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103015707A>G" "" "likely benign" "" "0000254419" "0" "30" "1" "103356031" "103356031" "subst" "4.1447E-6" "01943" "COL11A1_000018" "g.103356031A>G" "" "" "" "COL11A1(NM_080629.2):c.4368T>C (p.G1456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102890475A>G" "" "likely benign" "" "0000255365" "0" "70" "1" "103488352" "103488352" "del" "0" "01943" "COL11A1_000074" "g.103488352del" "" "" "" "COL11A1(NM_080629.2):c.1227delT (p.N410Mfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022796del" "" "likely pathogenic" "" "0000255953" "0" "50" "1" "103488342" "103488342" "subst" "0.000369025" "01943" "COL11A1_000073" "g.103488342A>T" "" "" "" "COL11A1(NM_080629.2):c.1237T>A (p.F413I), COL11A1(NM_080629.3):c.1237T>A (p.F413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022786A>T" "" "VUS" "" "0000256584" "0" "50" "1" "103540313" "103540313" "subst" "8.13789E-6" "01943" "COL11A1_000093" "g.103540313A>G" "" "" "" "COL11A1(NM_080629.2):c.512T>C (p.V171A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103074757A>G" "" "VUS" "" "0000256689" "0" "50" "1" "103462630" "103462630" "subst" "0.000114039" "01943" "COL11A1_000056" "g.103462630A>G" "" "" "" "COL11A1(NM_001854.4):c.2241+6T>C, COL11A1(NM_080629.2):c.2277+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102997074A>G" "" "VUS" "" "0000264730" "0" "10" "1" "103343558" "103343558" "subst" "0.00124472" "02330" "COL11A1_000009" "g.103343558T>C" "" "" "" "COL11A1(NM_080629.3):c.*17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102878002T>C" "" "benign" "" "0000264731" "0" "30" "1" "103483381" "103483381" "subst" "1.62549E-5" "02330" "COL11A1_000069" "g.103483381C>G" "" "" "" "COL11A1(NM_080629.3):c.1444G>C (p.D482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103017825C>G" "" "likely benign" "" "0000264732" "0" "10" "1" "103471486" "103471488" "del" "0" "02330" "COL11A1_000064" "g.103471486_103471488del" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10delATG, COL11A1(NM_080629.3):c.1828-12_1828-10delATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005930_103005932del" "" "benign" "" "0000264733" "0" "10" "1" "103461411" "103461415" "del" "0" "02330" "COL11A1_000053" "g.103461411_103461415del" "" "" "" "COL11A1(NM_080629.2):c.2376+9_2376+13delTAATT, COL11A1(NM_080629.3):c.2376+9_2376+13delTAATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102995855_102995859del" "" "benign" "" "0000264735" "0" "50" "1" "103428312" "103428312" "subst" "0.00172309" "02330" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102962756G>T" "" "VUS" "" "0000264736" "0" "50" "1" "103544374" "103544374" "subst" "0.000723376" "02330" "COL11A1_000097" "g.103544374C>G" "" "" "" "COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R), COL11A1(NM_080629.3):c.328G>C (p.G110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078818C>G" "" "VUS" "" "0000264737" "0" "10" "1" "103406003" "103406003" "subst" "0.00113765" "02330" "COL11A1_000042" "g.103406003T>G" "" "" "" "COL11A1(NM_080629.3):c.3313-13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102940447T>G" "" "benign" "" "0000264738" "0" "10" "1" "103388907" "103388907" "subst" "0.000707753" "02330" "COL11A1_000038" "g.103388907C>T" "" "" "" "COL11A1(NM_080629.2):c.3675G>A (p.G1225=), COL11A1(NM_080629.3):c.3675G>A (p.G1225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102923351C>T" "" "benign" "" "0000264742" "0" "10" "1" "103380392" "103380392" "dup" "0" "02330" "COL11A1_000032" "g.103380392dup" "" "" "" "COL11A1(NM_080629.2):c.3853-13dupT, COL11A1(NM_080629.3):c.3853-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914836dup" "" "benign" "" "0000264744" "0" "10" "1" "103380391" "103380392" "dup" "0" "02330" "COL11A1_000036" "g.103380391_103380392dup" "" "" "" "COL11A1(NM_001190709.1):c.3700-14_3700-13dup (p.(=)), COL11A1(NM_001854.4):c.3817-14_3817-13dupTT, COL11A1(NM_080629.3):c.3853-14_3853-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914835_102914836dup" "" "benign" "" "0000264746" "0" "10" "1" "103379260" "103379260" "subst" "0.00527916" "02330" "COL11A1_000026" "g.103379260T>A" "" "" "" "COL11A1(NM_080629.3):c.4015-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102913704T>A" "" "benign" "" "0000264747" "0" "10" "1" "103364487" "103364487" "subst" "0" "02330" "COL11A1_000024" "g.103364487T>A" "" "" "" "COL11A1(NM_080629.2):c.4176+10A>T, COL11A1(NM_080629.3):c.4176+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898931T>A" "" "benign" "" "0000264748" "0" "30" "1" "103364285" "103364285" "subst" "0.00281164" "02330" "COL11A1_000021" "g.103364285G>A" "" "" "" "COL11A1(NM_080629.2):c.4221C>T (p.V1407=), COL11A1(NM_080629.3):c.4221C>T (p.V1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898729G>A" "" "likely benign" "" "0000264749" "0" "10" "1" "103356082" "103356082" "dup" "0" "02330" "COL11A1_000019" "g.103356082dup" "" "" "" "COL11A1(NM_080629.3):c.4339-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102890526dup" "" "benign" "" "0000264750" "0" "10" "1" "103354492" "103354492" "subst" "0.000260321" "02330" "COL11A1_000017" "g.103354492C>T" "" "" "" "COL11A1(NM_080629.3):c.4501-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888936C>T" "" "benign" "" "0000264751" "0" "10" "1" "103354472" "103354472" "subst" "0.000617972" "02330" "COL11A1_000016" "g.103354472T>C" "" "" "" "COL11A1(NM_080629.2):c.4504A>G (p.I1502V), COL11A1(NM_080629.3):c.4504A>G (p.I1502V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888916T>C" "" "benign" "" "0000264752" "0" "10" "1" "103352472" "103352472" "subst" "2.44049E-5" "02330" "COL11A1_000012" "g.103352472G>A" "" "" "" "COL11A1(NM_080629.3):c.4785C>T (p.L1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102886916G>A" "" "benign" "" "0000264753" "0" "10" "1" "103347336" "103347336" "subst" "1.22482E-5" "02330" "COL11A1_000010" "g.103347336C>A" "" "" "" "COL11A1(NM_080629.3):c.5008-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102881780C>A" "" "benign" "" "0000264755" "0" "10" "1" "103496818" "103496818" "dup" "0" "02330" "COL11A1_000084" "g.103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6dupT (p.(=)), COL11A1(NM_080629.2):c.652-6dupT, COL11A1(NM_080629.3):c.652-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262dup" "" "benign" "" "0000264756" "0" "10" "1" "103496817" "103496818" "dup" "0" "02330" "COL11A1_000085" "g.103496817_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-7_652-6insTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-7dupTT, COL11A1(NM_080629.3):c.652-7_652-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031261_103031262dup" "" "benign" "" "0000264757" "0" "10" "1" "103496816" "103496818" "dup" "0" "02330" "COL11A1_000086" "g.103496816_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTT (p.(=)), COL11A1(NM_001854.4):c.652-9_652-7dupTTT, COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031260_103031262dup" "" "benign" "" "0000266885" "0" "10" "1" "103444679" "103444679" "subst" "0.696942" "02325" "COL11A1_000050" "g.103444679T>G" "" "" "" "COL11A1(NM_080629.3):c.2647-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979123T>G" "" "benign" "" "0000266886" "0" "10" "1" "103379918" "103379918" "subst" "0.606521" "02325" "COL11A1_000027" "g.103379918G>A" "" "" "" "COL11A1(NM_080629.3):c.4004C>T (p.P1335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914362G>A" "" "benign" "" "0000266887" "0" "10" "1" "103496620" "103496620" "subst" "0" "02325" "COL11A1_000080" "g.103496620G>T" "" "" "" "COL11A1(NM_080629.3):c.780+52C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031064G>T" "" "benign" "" "0000268159" "0" "10" "1" "103487244" "103487244" "subst" "0.0707832" "02329" "COL11A1_000070" "g.103487244T>C" "" "" "" "COL11A1(NM_080629.3):c.1344+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103021688T>C" "" "benign" "" "0000268160" "0" "10" "1" "103483358" "103483358" "subst" "0.0552398" "02329" "COL11A1_000068" "g.103483358T>A" "" "" "" "COL11A1(NM_080629.3):c.1449+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103017802T>A" "" "benign" "" "0000268162" "0" "30" "1" "103471486" "103471488" "del" "0" "02329" "COL11A1_000066" "g.103471486_103471488del" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10delATG, COL11A1(NM_080629.3):c.1828-12_1828-10delATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005930_103005932del" "" "likely benign" "" "0000268163" "0" "10" "1" "103470191" "103470191" "subst" "0.0245013" "02329" "COL11A1_000062" "g.103470191T>C" "" "" "" "COL11A1(NM_080629.3):c.1908A>G (p.P636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103004635T>C" "" "benign" "" "0000268164" "0" "10" "1" "103468295" "103468295" "subst" "0.0294347" "02329" "COL11A1_000058" "g.103468295C>T" "" "" "" "COL11A1(NM_001190709.1):c.1926+8G>A (p.(=)), COL11A1(NM_080629.2):c.2079+8G>A, COL11A1(NM_080629.3):c.2079+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103002739C>T" "" "benign" "" "0000268165" "0" "10" "1" "103444679" "103444679" "subst" "0.696942" "02329" "COL11A1_000050" "g.103444679T>G" "" "" "" "COL11A1(NM_080629.3):c.2647-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979123T>G" "" "benign" "" "0000268166" "0" "30" "1" "103544384" "103544384" "subst" "0.000147059" "02329" "COL11A1_000098" "g.103544384T>C" "" "" "" "COL11A1(NM_080629.3):c.318A>G (p.K106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078828T>C" "" "likely benign" "" "0000268167" "0" "10" "1" "103427407" "103427407" "subst" "0.0516874" "02329" "COL11A1_000043" "g.103427407T>C" "" "" "" "COL11A1(NM_080629.3):c.3204+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102961851T>C" "" "benign" "" "0000268168" "0" "10" "1" "103405892" "103405892" "subst" "0.141185" "02329" "COL11A1_000040" "g.103405892G>A" "" "" "" "COL11A1(NM_080629.3):c.3411C>T (p.D1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102940336G>A" "" "benign" "" "0000268171" "0" "10" "1" "103380392" "103380392" "dup" "0" "02329" "COL11A1_000032" "g.103380392dup" "" "" "" "COL11A1(NM_080629.2):c.3853-13dupT, COL11A1(NM_080629.3):c.3853-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914836dup" "" "benign" "" "0000268172" "0" "10" "1" "103379918" "103379918" "subst" "0.606521" "02329" "COL11A1_000027" "g.103379918G>A" "" "" "" "COL11A1(NM_080629.3):c.4004C>T (p.P1335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914362G>A" "" "benign" "" "0000268173" "0" "10" "1" "103379260" "103379260" "subst" "0.00527916" "02329" "COL11A1_000026" "g.103379260T>A" "" "" "" "COL11A1(NM_080629.3):c.4015-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102913704T>A" "" "benign" "" "0000268174" "0" "10" "1" "103354135" "103354135" "subst" "0.00857969" "02329" "COL11A1_000014" "g.103354135G>C" "" "" "" "COL11A1(NM_001190709.1):c.4489C>G (p.(Pro1497Ala)), COL11A1(NM_080629.2):c.4642C>G (p.P1548A), COL11A1(NM_080629.3):c.4642C>G (p.P1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888579G>C" "" "benign" "" "0000268175" "0" "10" "1" "103354115" "103354115" "subst" "0.13027" "02329" "COL11A1_000013" "g.103354115T>C" "" "" "" "COL11A1(NM_080629.3):c.4644+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888559T>C" "" "benign" "" "0000268176" "0" "10" "1" "103496817" "103496818" "del" "0" "02329" "COL11A1_000089" "g.103496817_103496818del" "" "" "" "COL11A1(NM_080629.2):c.652-7_652-6delTT, COL11A1(NM_080629.3):c.652-7_652-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031261_103031262del" "" "benign" "" "0000268177" "0" "10" "1" "103496818" "103496818" "dup" "0" "02329" "COL11A1_000084" "g.103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6dupT (p.(=)), COL11A1(NM_080629.2):c.652-6dupT, COL11A1(NM_080629.3):c.652-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262dup" "" "benign" "" "0000268178" "0" "10" "1" "103496816" "103496818" "dup" "0" "02329" "COL11A1_000086" "g.103496816_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTT (p.(=)), COL11A1(NM_001854.4):c.652-9_652-7dupTTT, COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031260_103031262dup" "" "benign" "" "0000268179" "0" "10" "1" "103491461" "103491461" "subst" "0.0707975" "02329" "COL11A1_000079" "g.103491461T>G" "" "" "" "COL11A1(NM_080629.3):c.828A>C (p.K276N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103025905T>G" "" "benign" "" "0000268180" "0" "30" "1" "103491340" "103491340" "subst" "8.56241E-5" "02329" "COL11A1_000078" "g.103491340G>C" "" "" "" "COL11A1(NM_080629.3):c.933+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103025784G>C" "" "likely benign" "" "0000270359" "0" "10" "1" "103471486" "103471488" "del" "0" "02326" "COL11A1_000064" "g.103471486_103471488del" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10delATG, COL11A1(NM_080629.3):c.1828-12_1828-10delATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005930_103005932del" "" "benign" "" "0000270361" "0" "10" "1" "103468295" "103468295" "subst" "0.0294347" "02326" "COL11A1_000058" "g.103468295C>T" "" "" "" "COL11A1(NM_001190709.1):c.1926+8G>A (p.(=)), COL11A1(NM_080629.2):c.2079+8G>A, COL11A1(NM_080629.3):c.2079+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103002739C>T" "" "benign" "" "0000270363" "0" "30" "1" "103354135" "103354135" "subst" "0.00857969" "02326" "COL11A1_000014" "g.103354135G>C" "" "" "" "COL11A1(NM_001190709.1):c.4489C>G (p.(Pro1497Ala)), COL11A1(NM_080629.2):c.4642C>G (p.P1548A), COL11A1(NM_080629.3):c.4642C>G (p.P1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888579G>C" "" "likely benign" "" "0000270364" "0" "30" "1" "103496818" "103496818" "dup" "0" "02326" "COL11A1_000084" "g.103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6dupT (p.(=)), COL11A1(NM_080629.2):c.652-6dupT, COL11A1(NM_080629.3):c.652-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262dup" "" "likely benign" "" "0000273758" "0" "30" "1" "103488532" "103488532" "subst" "6.10849E-5" "01943" "COL11A1_000077" "g.103488532T>A" "" "" "" "COL11A1(NM_080629.2):c.1047A>T (p.I349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022976T>A" "" "likely benign" "" "0000273759" "0" "30" "1" "103488522" "103488522" "subst" "0.000818437" "01943" "COL11A1_000076" "g.103488522C>G" "" "" "" "COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q), COL11A1(NM_080629.3):c.1057G>C (p.E353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022966C>G" "" "likely benign" "" "0000273760" "0" "50" "1" "103471422" "103471422" "subst" "1.21836E-5" "01943" "COL11A1_000063" "g.103471422G>A" "" "" "" "COL11A1(NM_080629.2):c.1853C>T (p.P618L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005866G>A" "" "VUS" "" "0000273761" "0" "50" "1" "103462645" "103462645" "subst" "3.25836E-5" "01943" "COL11A1_000057" "g.103462645C>G" "" "" "" "COL11A1(NM_080629.2):c.2268G>C (p.K756N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102997089C>G" "" "VUS" "" "0000273762" "0" "50" "1" "103461564" "103461564" "subst" "4.07644E-5" "01943" "COL11A1_000055" "g.103461564G>A" "" "" "" "COL11A1(NM_080629.2):c.2312C>T (p.P771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102996008G>A" "" "VUS" "" "0000273763" "0" "30" "1" "103461411" "103461415" "del" "0" "01943" "COL11A1_000053" "g.103461411_103461415del" "" "" "" "COL11A1(NM_080629.2):c.2376+9_2376+13delTAATT, COL11A1(NM_080629.3):c.2376+9_2376+13delTAATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102995855_102995859del" "" "likely benign" "" "0000273764" "0" "50" "1" "103444946" "103444946" "subst" "0" "01943" "COL11A1_000051" "g.103444946C>G" "" "" "" "COL11A1(NM_080629.2):c.2638G>C (p.G880R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979390C>G" "" "VUS" "" "0000273765" "0" "50" "1" "103444283" "103444283" "subst" "0.000207204" "01943" "COL11A1_000048" "g.103444283G>A" "" "" "" "COL11A1(NM_001190709.1):c.2618C>T (p.(Pro873Leu)), COL11A1(NM_080629.2):c.2771C>T (p.P924L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102978727G>A" "" "VUS" "" "0000273766" "0" "90" "1" "103440425" "103440442" "del" "0" "01943" "COL11A1_000046" "g.103440425_103440442del" "" "" "" "COL11A1(NM_080629.2):c.2796_2813delTCAAGGACCTCAGGGTCC (p.Q933_P938del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102974869_102974886del" "" "pathogenic" "" "0000273767" "0" "30" "1" "103440428" "103440428" "subst" "0.000560894" "01943" "COL11A1_000047" "g.103440428T>C" "" "" "" "COL11A1(NM_080629.2):c.2802A>G (p.G934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102974872T>C" "" "likely benign" "" "0000273768" "0" "30" "1" "103428312" "103428312" "subst" "0.00172309" "01943" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102962756G>T" "" "likely benign" "" "0000273769" "0" "30" "1" "103544374" "103544374" "subst" "0.000723376" "01943" "COL11A1_000097" "g.103544374C>G" "" "" "" "COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R), COL11A1(NM_080629.3):c.328G>C (p.G110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078818C>G" "" "likely benign" "" "0000273770" "0" "30" "1" "103388907" "103388907" "subst" "0.000707753" "01943" "COL11A1_000038" "g.103388907C>T" "" "" "" "COL11A1(NM_080629.2):c.3675G>A (p.G1225=), COL11A1(NM_080629.3):c.3675G>A (p.G1225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102923351C>T" "" "likely benign" "" "0000273771" "0" "30" "1" "103380377" "103380377" "subst" "0" "01943" "COL11A1_000029" "g.103380377G>T" "" "" "" "COL11A1(NM_080629.2):c.3853-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914821G>T" "" "likely benign" "" "0000273772" "0" "30" "1" "103379193" "103379193" "subst" "0.000743491" "01943" "COL11A1_000025" "g.103379193C>T" "" "" "" "COL11A1(NM_080629.2):c.4068G>A (p.P1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102913637C>T" "" "likely benign" "" "0000273773" "0" "30" "1" "103364285" "103364285" "subst" "0.00281164" "01943" "COL11A1_000021" "g.103364285G>A" "" "" "" "COL11A1(NM_080629.2):c.4221C>T (p.V1407=), COL11A1(NM_080629.3):c.4221C>T (p.V1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898729G>A" "" "likely benign" "" "0000273774" "0" "10" "1" "103354135" "103354135" "subst" "0.00857969" "01943" "COL11A1_000014" "g.103354135G>C" "" "" "" "COL11A1(NM_001190709.1):c.4489C>G (p.(Pro1497Ala)), COL11A1(NM_080629.2):c.4642C>G (p.P1548A), COL11A1(NM_080629.3):c.4642C>G (p.P1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888579G>C" "" "benign" "" "0000273775" "0" "50" "1" "103544224" "103544224" "subst" "6.50803E-5" "01943" "COL11A1_000095" "g.103544224C>T" "" "" "" "COL11A1(NM_080629.2):c.478G>A (p.A160T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078668C>T" "" "VUS" "" "0000273776" "0" "70" "1" "103544218" "103544218" "subst" "0" "01943" "COL11A1_000094" "g.103544218C>T" "" "" "" "COL11A1(NM_080629.2):c.484G>A (p.G162R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078662C>T" "" "likely pathogenic" "" "0000273778" "0" "10" "1" "103496817" "103496818" "del" "0" "01943" "COL11A1_000089" "g.103496817_103496818del" "" "" "" "COL11A1(NM_080629.2):c.652-7_652-6delTT, COL11A1(NM_080629.3):c.652-7_652-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031261_103031262del" "" "benign" "" "0000273779" "0" "30" "1" "103496818" "103496818" "dup" "0" "01943" "COL11A1_000084" "g.103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6dupT (p.(=)), COL11A1(NM_080629.2):c.652-6dupT, COL11A1(NM_080629.3):c.652-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262dup" "" "likely benign" "" "0000273780" "0" "30" "1" "103496816" "103496818" "dup" "0" "01943" "COL11A1_000086" "g.103496816_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTT (p.(=)), COL11A1(NM_001854.4):c.652-9_652-7dupTTT, COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031260_103031262dup" "" "likely benign" "" "0000273781" "0" "30" "1" "103496818" "103496818" "del" "0" "01943" "COL11A1_000090" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "likely benign" "" "0000273783" "0" "50" "1" "103573638" "103573638" "subst" "1.22159E-5" "01943" "COL11A1_000101" "g.103573638C>T" "" "" "" "COL11A1(NM_001190709.1):c.97G>A (p.(Val33Ile)), COL11A1(NM_080629.2):c.97G>A (p.V33I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103108082C>T" "" "VUS" "" "0000320889" "0" "10" "1" "103354135" "103354135" "subst" "0.00857969" "01804" "COL11A1_000014" "g.103354135G>C" "" "" "" "COL11A1(NM_001190709.1):c.4489C>G (p.(Pro1497Ala)), COL11A1(NM_080629.2):c.4642C>G (p.P1548A), COL11A1(NM_080629.3):c.4642C>G (p.P1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888579G>C" "" "benign" "" "0000320891" "0" "50" "1" "103364248" "103364248" "subst" "0.000134084" "01804" "COL11A1_000020" "g.103364248C>T" "" "" "" "COL11A1(NM_001854.3):c.4222G>A (p.(Gly1408Ser)), COL11A1(NM_001854.4):c.4222G>A (p.G1408S), COL11A1(NM_080629.3):c.4258G>A (p.G1420S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898692C>T" "" "VUS" "" "0000320892" "0" "50" "1" "103400653" "103400653" "subst" "0" "01804" "COL11A1_000039" "g.103400653G>C" "" "" "" "COL11A1(NM_001854.3):c.3455C>G (p.(Pro1152Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102935097G>C" "" "VUS" "" "0000320893" "0" "50" "1" "103405984" "103405984" "subst" "0" "01804" "COL11A1_000041" "g.103405984T>G" "" "" "" "COL11A1(NM_001190709.1):c.3166A>C (p.(Lys1056Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102940428T>G" "" "VUS" "" "0000320894" "0" "50" "1" "103461555" "103461555" "subst" "4.07807E-5" "01804" "COL11A1_000054" "g.103461555C>T" "" "" "" "COL11A1(NM_001190709.1):c.2168G>A (p.(Arg723Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102995999C>T" "" "VUS" "" "0000320895" "0" "50" "1" "103488504" "103488504" "subst" "3.66277E-5" "01804" "COL11A1_000075" "g.103488504C>T" "" "" "" "COL11A1(NM_001190709.1):c.922G>A (p.(Asp308Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022948C>T" "" "VUS" "" "0000320896" "0" "30" "1" "103496818" "103496818" "del" "0" "01804" "COL11A1_000090" "g.103496818del" "" "" "" "COL11A1(NM_001190709.1):c.652-6del (p.(=)), COL11A1(NM_080629.2):c.652-6delT, COL11A1(NM_080629.3):c.652-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031262del" "" "likely benign" "" "0000320897" "0" "30" "1" "103544263" "103544263" "subst" "0" "01804" "COL11A1_000096" "g.103544263C>T" "" "" "" "COL11A1(NM_001854.3):c.439G>A (p.(Ala147Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078707C>T" "" "likely benign" "" "0000336919" "0" "10" "1" "103354115" "103354115" "subst" "0.13027" "02327" "COL11A1_000013" "g.103354115T>C" "" "" "" "COL11A1(NM_080629.3):c.4644+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888559T>C" "" "benign" "" "0000336920" "0" "10" "1" "103364484" "103364484" "subst" "0" "02327" "COL11A1_000022" "g.103364484A>T" "" "" "" "COL11A1(NM_080629.3):c.4176+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898928A>T" "" "benign" "" "0000336922" "0" "90" "1" "103381186" "103381186" "subst" "0" "02327" "COL11A1_000108" "g.103381186C>G" "" "" "" "COL11A1(NM_080629.3):c.3852+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102915630C>G" "" "pathogenic" "" "0000336923" "0" "90" "1" "103381186" "103381186" "subst" "0" "02327" "COL11A1_000109" "g.103381186C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102915630C>T" "" "pathogenic" "" "0000336924" "0" "10" "1" "103427407" "103427407" "subst" "0.0516874" "02327" "COL11A1_000043" "g.103427407T>C" "" "" "" "COL11A1(NM_080629.3):c.3204+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102961851T>C" "" "benign" "" "0000336925" "0" "10" "1" "103444679" "103444679" "subst" "0.696942" "02327" "COL11A1_000050" "g.103444679T>G" "" "" "" "COL11A1(NM_080629.3):c.2647-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979123T>G" "" "benign" "" "0000336927" "0" "10" "1" "103468295" "103468295" "subst" "0.0294347" "02327" "COL11A1_000058" "g.103468295C>T" "" "" "" "COL11A1(NM_001190709.1):c.1926+8G>A (p.(=)), COL11A1(NM_080629.2):c.2079+8G>A, COL11A1(NM_080629.3):c.2079+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103002739C>T" "" "benign" "" "0000336928" "0" "30" "1" "103468756" "103468756" "subst" "2.85577E-5" "02327" "COL11A1_000114" "g.103468756T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103003200T>G" "" "likely benign" "" "0000336929" "0" "10" "1" "103468767" "103468767" "subst" "0.12376" "02327" "COL11A1_000060" "g.103468767A>T" "" "" "" "COL11A1(NM_080629.3):c.2034+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103003211A>T" "" "benign" "" "0000336930" "0" "10" "1" "103469989" "103469989" "subst" "0.0296888" "02327" "COL11A1_000061" "g.103469989A>G" "" "" "" "COL11A1(NM_080629.2):c.1980+11T>C, COL11A1(NM_080629.3):c.1980+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103004433A>G" "" "benign" "" "0000336931" "0" "50" "1" "103471389" "103471389" "subst" "0" "02327" "COL11A1_000116" "g.103471389C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005833C>G" "" "VUS" "" "0000336933" "0" "90" "1" "103474074" "103474074" "del" "0" "02327" "COL11A1_000006" "g.103474074del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103008518del" "" "pathogenic" "" "0000336934" "0" "10" "1" "103483358" "103483358" "subst" "0.0552398" "02327" "COL11A1_000068" "g.103483358T>A" "" "" "" "COL11A1(NM_080629.3):c.1449+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103017802T>A" "" "benign" "" "0000336935" "0" "10" "1" "103487244" "103487244" "subst" "0.0707832" "02327" "COL11A1_000070" "g.103487244T>C" "" "" "" "COL11A1(NM_080629.3):c.1344+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103021688T>C" "" "benign" "" "0000336937" "0" "30" "1" "103496816" "103496817" "ins" "0" "02327" "COL11A1_000121" "g.103496816_103496817insCAAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031260_103031261insCAAA" "" "likely benign" "" "0000336938" "0" "10" "1" "103544434" "103544434" "subst" "0.150056" "02327" "COL11A1_000099" "g.103544434A>G" "" "" "" "COL11A1(NM_080629.3):c.275-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103078878A>G" "" "benign" "" "0000339240" "0" "10" "1" "103352451" "103352451" "subst" "0.594595" "02327" "COL11A1_000011" "g.103352451A>G" "" "" "" "COL11A1(NM_080629.3):c.4806T>C (p.I1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102886895A>G" "" "benign" "" "0000339241" "0" "10" "1" "103354428" "103354428" "subst" "0.737567" "02327" "COL11A1_000105" "g.103354428A>G" "" "" "" "COL11A1(NM_080629.3):c.4548T>C (p.G1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888872A>G" "" "benign" "" "0000339242" "0" "10" "1" "103405892" "103405892" "subst" "0.141185" "02327" "COL11A1_000040" "g.103405892G>A" "" "" "" "COL11A1(NM_080629.3):c.3411C>T (p.D1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102940336G>A" "" "benign" "" "0000339243" "0" "10" "1" "103470191" "103470191" "subst" "0.0245013" "02327" "COL11A1_000062" "g.103470191T>C" "" "" "" "COL11A1(NM_080629.3):c.1908A>G (p.P636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103004635T>C" "" "benign" "" "0000339244" "0" "10" "1" "103496792" "103496792" "subst" "0.0706668" "02327" "COL11A1_000081" "g.103496792A>G" "" "" "" "COL11A1(NM_080629.2):c.660T>C (p.I220=), COL11A1(NM_080629.3):c.660T>C (p.I220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031236A>G" "" "benign" "" "0000343161" "0" "90" "1" "103471441" "103471441" "subst" "0" "02327" "COL11A1_000117" "g.103471441G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103005885G>A" "" "pathogenic" "" "0000343616" "0" "30" "1" "103352417" "103352417" "subst" "0" "02327" "COL11A1_000103" "g.103352417T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102886861T>A" "" "likely benign" "" "0000343921" "0" "10" "1" "103355059" "103355059" "subst" "0.00337509" "02327" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102889503G>T" "" "benign" "" "0000343961" "0" "50" "1" "103343637" "103343637" "subst" "6.91918E-5" "02327" "COL11A1_000102" "g.103343637C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102878081C>T" "" "VUS" "" "0000344074" "0" "30" "1" "103488437" "103488437" "subst" "4.0657E-6" "02327" "COL11A1_000119" "g.103488437T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022881T>A" "" "likely benign" "" "0000344114" "0" "10" "1" "103548497" "103548497" "subst" "0.0608142" "02327" "COL11A1_000100" "g.103548497A>C" "" "" "" "COL11A1(NM_080629.3):c.138T>G (p.D46E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103082941A>C" "" "benign" "" "0000345368" "0" "10" "1" "103488522" "103488522" "subst" "0.000818437" "02327" "COL11A1_000076" "g.103488522C>G" "" "" "" "COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q), COL11A1(NM_080629.3):c.1057G>C (p.E353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103022966C>G" "" "benign" "" "0000345720" "0" "50" "1" "103364248" "103364248" "subst" "0.000134084" "02327" "COL11A1_000020" "g.103364248C>T" "" "" "" "COL11A1(NM_001854.3):c.4222G>A (p.(Gly1408Ser)), COL11A1(NM_001854.4):c.4222G>A (p.G1408S), COL11A1(NM_080629.3):c.4258G>A (p.G1420S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102898692C>T" "" "VUS" "" "0000345745" "0" "90" "1" "103354304" "103354304" "subst" "0" "02327" "COL11A1_000104" "g.103354304C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888748C>A" "" "pathogenic" "" "0000346206" "0" "90" "1" "103468815" "103468815" "subst" "0" "02327" "COL11A1_000115" "g.103468815C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103003259C>A" "" "pathogenic" "" "0000346286" "0" "90" "1" "103453214" "103453214" "subst" "0" "02327" "COL11A1_000112" "g.103453214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102987658C>T" "" "pathogenic" "" "0000346344" "0" "50" "1" "103428307" "103428307" "subst" "1.21903E-5" "02327" "COL11A1_000111" "g.103428307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102962751C>T" "" "VUS" "" "0000348100" "0" "10" "1" "103444970" "103444970" "subst" "0.00768316" "02327" "COL11A1_000052" "g.103444970A>T" "" "" "" "COL11A1(NM_001190709.1):c.2461T>A (p.(Phe821Ile)), COL11A1(NM_080629.2):c.2614T>A (p.F872I), COL11A1(NM_080629.3):c.2614T>A (p.F872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102979414A>T" "" "benign" "" "0000348182" "0" "10" "1" "103379918" "103379918" "subst" "0.606521" "02327" "COL11A1_000027" "g.103379918G>A" "" "" "" "COL11A1(NM_080629.3):c.4004C>T (p.P1335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102914362G>A" "" "benign" "" "0000348214" "0" "10" "1" "103354135" "103354135" "subst" "0.00857969" "02327" "COL11A1_000014" "g.103354135G>C" "" "" "" "COL11A1(NM_001190709.1):c.4489C>G (p.(Pro1497Ala)), COL11A1(NM_080629.2):c.4642C>G (p.P1548A), COL11A1(NM_080629.3):c.4642C>G (p.P1548A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888579G>C" "" "benign" "" "0000348629" "0" "10" "1" "103428312" "103428312" "subst" "0.00172309" "02327" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102962756G>T" "" "benign" "" "0000348739" "0" "10" "1" "103354138" "103354138" "subst" "0.79952" "02327" "COL11A1_000015" "g.103354138A>G" "" "" "" "COL11A1(NM_080629.3):c.4639T>C (p.S1547P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102888582A>G" "" "benign" "" "0000349995" "0" "30" "1" "103496754" "103496754" "subst" "8.59965E-5" "02327" "COL11A1_000120" "g.103496754T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103031198T>C" "" "likely benign" "" "0000350493" "0" "30" "1" "103573638" "103573638" "subst" "1.22159E-5" "02327" "COL11A1_000101" "g.103573638C>T" "" "" "" "COL11A1(NM_001190709.1):c.97G>A (p.(Val33Ile)), COL11A1(NM_080629.2):c.97G>A (p.V33I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103108082C>T" "" "likely benign" "" "0000350813" "0" "90" "1" "103381185" "103381185" "dup" "0" "02327" "COL11A1_000107" "g.103381185dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102915629dup" "" "pathogenic" "" "0000350814" "0" "90" "1" "103427731" "103427731" "subst" "0" "02327" "COL11A1_000110" "g.103427731C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102962175C>T" "" "pathogenic" "" "0000484089" "0" "90" "1" "103488296" "103488296" "subst" "0" "01280" "COL11A1_000123" "g.103488296A>G" "" "" "" "" "donor splice site of alternatively expressed exon, carriers are clinically normal" "Germline" "" "" "0" "" "" "g.103022740A>G" "" "pathogenic (recessive)" "ACMG" "0000484090" "10" "90" "1" "103364516" "103364533" "del" "0" "01280" "COL11A1_000122" "g.103364516_103364533del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.102898960_102898977del" "" "pathogenic (dominant)" "ACMG" "0000502232" "0" "10" "1" "103343566" "103343566" "subst" "4.47595E-5" "02330" "COL11A1_000124" "g.103343566G>C" "" "" "" "COL11A1(NM_080629.3):c.*9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102878010G>C" "" "benign" "" "0000502233" "0" "30" "1" "103343582" "103343582" "subst" "1.22071E-5" "02330" "COL11A1_000125" "g.103343582A>T" "" "" "" "COL11A1(NM_001854.3):c.5414T>A (p.(Leu1805His)), COL11A1(NM_080629.3):c.5450T>A (p.L1817H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102878026A>T" "" "likely benign" "" "0000502234" "0" "10" "1" "103343671" "103343671" "subst" "0.000590285" "02330" "COL11A1_000126" "g.103343671A>G" "" "" "" "COL11A1(NM_080629.3):c.5361T>C (p.I1787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102878115A>G" "" "benign" "" "0000502236" "0" "30" "1" "103348866" "103348866" "subst" "0" "02330" "COL11A1_000128" "g.103348866A>G" "" "" "" "COL11A1(NM_080629.3):c.4896T>C (p.G1632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102883310A>G" "" "likely benign" "" "0000502237" "0" "50" "1" "103352479" "103352479" "subst" "0" "02327" "COL11A1_000129" "g.103352479C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102886923C>A" "" "VUS" "" "0000502238" "0" "50" "1" "103352594" "103352594" "subst" "6.09905E-5" "01943" "COL11A1_000130" "g.103352594T>G" "" "" "" "COL11A1(NM_001854.4):c.4627A>C (p.(Ile1543Leu), p.I1543L), COL11A1(NM_080629.2):c.4663A>C (p.I1555L), COL11A1(NM_080629.3):c.4663A>C (p.I1555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102887038T>G" "" "VUS" "" "0000502239" "0" "10" "1" "103352631" "103352631" "subst" "0" "02330" "COL11A1_000131" "g.103352631G>A" "" "" "" "COL11A1(NM_080629.3):c.4645-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102887075G>A" "" "benign" "" "0000502240" "0" "30" "1" "103354271" "103354271" "subst" "4.47781E-5" "01943" "COL11A1_000132" "g.103354271G>A" "" "" "" "COL11A1(NM_080629.2):c.4590+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102888715G>A" "" "likely benign" "" "0000502241" "0" "90" "1" "103354286" "103354286" "subst" "0" "02327" "COL11A1_000133" "g.103354286C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102888730C>A" "" "pathogenic" "" "0000502242" "0" "10" "1" "103354428" "103354428" "subst" "0.737567" "02325" "COL11A1_000105" "g.103354428A>G" "" "" "" "COL11A1(NM_080629.3):c.4548T>C (p.G1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102888872A>G" "" "benign" "" "0000502243" "0" "10" "1" "103354428" "103354428" "subst" "0.737567" "02329" "COL11A1_000105" "g.103354428A>G" "" "" "" "COL11A1(NM_080629.3):c.4548T>C (p.G1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102888872A>G" "" "benign" "" "0000502244" "0" "10" "1" "103354472" "103354472" "subst" "0.000617972" "01943" "COL11A1_000016" "g.103354472T>C" "" "" "" "COL11A1(NM_080629.2):c.4504A>G (p.I1502V), COL11A1(NM_080629.3):c.4504A>G (p.I1502V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102888916T>C" "" "benign" "" "0000502245" "0" "30" "1" "103355059" "103355059" "subst" "0.00337509" "02330" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102889503G>T" "" "likely benign" "" "0000502246" "0" "50" "1" "103355059" "103355059" "subst" "0.00337509" "01943" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102889503G>T" "" "VUS" "" "0000502247" "0" "30" "1" "103355059" "103355059" "subst" "0.00337509" "01804" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102889503G>T" "" "likely benign" "" "0000502248" "0" "10" "1" "103355059" "103355059" "subst" "0.00337509" "02329" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102889503G>T" "" "benign" "" "0000502250" "0" "10" "1" "103356082" "103356082" "dup" "0" "02329" "COL11A1_000019" "g.103356082dup" "" "" "" "COL11A1(NM_080629.3):c.4339-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102890526dup" "" "benign" "" "0000502251" "0" "30" "1" "103364294" "103364294" "subst" "1.62534E-5" "01943" "COL11A1_000134" "g.103364294G>A" "" "" "" "COL11A1(NM_080629.2):c.4212C>T (p.T1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102898738G>A" "" "likely benign" "" "0000502252" "0" "10" "1" "103364487" "103364487" "subst" "0" "01943" "COL11A1_000024" "g.103364487T>A" "" "" "" "COL11A1(NM_080629.2):c.4176+10A>T, COL11A1(NM_080629.3):c.4176+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102898931T>A" "" "benign" "" "0000502253" "0" "10" "1" "103377698" "103377698" "subst" "6.46836E-5" "02330" "COL11A1_000135" "g.103377698G>A" "" "" "" "COL11A1(NM_080629.3):c.4122+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102912142G>A" "" "benign" "" "0000502254" "0" "50" "1" "103379192" "103379192" "subst" "0" "02327" "COL11A1_000136" "g.103379192C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102913636C>A" "" "VUS" "" "0000502255" "0" "30" "1" "103379249" "103379249" "subst" "0.000520135" "01943" "COL11A1_000137" "g.103379249A>G" "" "" "" "COL11A1(NM_080629.2):c.4015-3T>C, COL11A1(NM_080629.3):c.4015-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102913693A>G" "" "likely benign" "" "0000502256" "0" "10" "1" "103379972" "103379972" "subst" "0.000558553" "02330" "COL11A1_000138" "g.103379972G>A" "" "" "" "COL11A1(NM_080629.3):c.3961-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102914416G>A" "" "benign" "" "0000502257" "0" "30" "1" "103379977" "103379977" "subst" "0.00128537" "02330" "COL11A1_000139" "g.103379977G>A" "" "" "" "COL11A1(NM_080629.3):c.3961-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102914421G>A" "" "likely benign" "" "0000502258" "0" "10" "1" "103380391" "103380392" "dup" "0" "02329" "COL11A1_000036" "g.103380391_103380392dup" "" "" "" "COL11A1(NM_001190709.1):c.3700-14_3700-13dup (p.(=)), COL11A1(NM_001854.4):c.3817-14_3817-13dupTT, COL11A1(NM_080629.3):c.3853-14_3853-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102914835_102914836dup" "" "benign" "" "0000502259" "0" "10" "1" "103380392" "103380392" "del" "0" "02329" "COL11A1_000034" "g.103380392del" "" "" "" "COL11A1(NM_080629.3):c.3853-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102914836del" "" "benign" "" "0000502260" "0" "10" "1" "103380392" "103380392" "dup" "0" "02326" "COL11A1_000032" "g.103380392dup" "" "" "" "COL11A1(NM_080629.2):c.3853-13dupT, COL11A1(NM_080629.3):c.3853-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102914836dup" "" "benign" "" "0000502261" "0" "90" "1" "103381186" "103381186" "subst" "0" "02329" "COL11A1_000108" "g.103381186C>G" "" "" "" "COL11A1(NM_080629.3):c.3852+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102915630C>G" "" "pathogenic" "" "0000502263" "0" "30" "1" "103385900" "103385900" "subst" "0.000743449" "01943" "COL11A1_000140" "g.103385900C>T" "" "" "" "COL11A1(NM_080629.2):c.3765G>A (p.G1255=), COL11A1(NM_080629.3):c.3765G>A (p.G1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102920344C>T" "" "likely benign" "" "0000502264" "0" "50" "1" "103387100" "103387100" "subst" "4.06564E-6" "02327" "COL11A1_000141" "g.103387100C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102921544C>G" "" "VUS" "" "0000502265" "0" "50" "1" "103400000" "103400000" "subst" "0" "02327" "COL11A1_000142" "g.103400000C>G" "" "" "" "COL11A1(NM_001854.4):c.3600+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102934444C>G" "" "VUS" "" "0000502266" "0" "50" "1" "103400015" "103400015" "subst" "4.06108E-5" "01943" "COL11A1_000143" "g.103400015A>G" "" "" "" "COL11A1(NM_080629.2):c.3626T>C (p.I1209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102934459A>G" "" "VUS" "" "0000502267" "0" "10" "1" "103400077" "103400077" "subst" "0" "02330" "COL11A1_000144" "g.103400077C>T" "" "" "" "COL11A1(NM_001854.3):c.3528G>A (p.(Gln1176=)), COL11A1(NM_080629.3):c.3564G>A (p.Q1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102934521C>T" "" "benign" "" "0000502268" "0" "30" "1" "103400635" "103400635" "subst" "0.000231547" "01943" "COL11A1_000145" "g.103400635A>G" "" "" "" "COL11A1(NM_080629.2):c.3509T>C (p.V1170A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102935079A>G" "" "likely benign" "" "0000502269" "0" "10" "1" "103400661" "103400661" "subst" "6.50459E-5" "02330" "COL11A1_000146" "g.103400661G>A" "" "" "" "COL11A1(NM_080629.2):c.3483C>T (p.P1161=), COL11A1(NM_080629.3):c.3483C>T (p.P1161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102935105G>A" "" "benign" "" "0000502270" "0" "30" "1" "103400661" "103400661" "subst" "6.50459E-5" "01943" "COL11A1_000146" "g.103400661G>A" "" "" "" "COL11A1(NM_080629.2):c.3483C>T (p.P1161=), COL11A1(NM_080629.3):c.3483C>T (p.P1161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102935105G>A" "" "likely benign" "" "0000502271" "0" "50" "1" "103404630" "103404630" "subst" "0" "01943" "COL11A1_000147" "g.103404630C>A" "" "" "" "COL11A1(NM_080629.2):c.3435G>T (p.E1145D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102939074C>A" "" "VUS" "" "0000502272" "0" "30" "1" "103412411" "103412411" "subst" "4.0838E-6" "01943" "COL11A1_000148" "g.103412411A>T" "" "" "" "COL11A1(NM_001190709.1):c.3153T>A (p.(Gly1051=)), COL11A1(NM_080629.2):c.3306T>A (p.G1102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102946855A>T" "" "likely benign" "" "0000502274" "0" "10" "1" "103428257" "103428257" "subst" "0.000190891" "02330" "COL11A1_000149" "g.103428257A>G" "" "" "" "COL11A1(NM_080629.3):c.3012T>C (p.P1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102962701A>G" "" "benign" "" "0000502275" "0" "30" "1" "103428312" "103428312" "subst" "0.00172309" "01804" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102962756G>T" "" "likely benign" "" "0000502276" "0" "30" "1" "103431058" "103431058" "subst" "0.00131234" "01943" "COL11A1_000150" "g.103431058T>G" "" "" "" "COL11A1(NM_080629.2):c.2937A>C (p.G979=), COL11A1(NM_080629.3):c.2937A>C (p.G979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102965502T>G" "" "likely benign" "" "0000502277" "0" "10" "1" "103431058" "103431058" "subst" "0.00131234" "02329" "COL11A1_000150" "g.103431058T>G" "" "" "" "COL11A1(NM_080629.2):c.2937A>C (p.G979=), COL11A1(NM_080629.3):c.2937A>C (p.G979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102965502T>G" "" "benign" "" "0000502278" "0" "90" "1" "103440424" "103440424" "subst" "0" "02327" "COL11A1_000151" "g.103440424G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102974868G>A" "" "pathogenic" "" "0000502279" "0" "50" "1" "103440435" "103440435" "subst" "1.626E-5" "02327" "COL11A1_000152" "g.103440435G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102974879G>C" "" "VUS" "" "0000502280" "0" "30" "1" "103444970" "103444970" "subst" "0.00768316" "01804" "COL11A1_000052" "g.103444970A>T" "" "" "" "COL11A1(NM_001190709.1):c.2461T>A (p.(Phe821Ile)), COL11A1(NM_080629.2):c.2614T>A (p.F872I), COL11A1(NM_080629.3):c.2614T>A (p.F872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102979414A>T" "" "likely benign" "" "0000502281" "0" "30" "1" "103453227" "103453227" "subst" "0" "01943" "COL11A1_000153" "g.103453227T>C" "" "" "" "COL11A1(NM_080629.2):c.2500A>G (p.T834A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102987671T>C" "" "likely benign" "" "0000502282" "0" "50" "1" "103453270" "103453270" "subst" "0.000219795" "01943" "COL11A1_000154" "g.103453270T>A" "" "" "" "COL11A1(NM_001854.4):c.2421A>T (p.(Arg807Ser)), COL11A1(NM_080629.2):c.2457A>T (p.R819S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102987714T>A" "" "VUS" "" "0000502284" "0" "30" "1" "103468295" "103468295" "subst" "0.0294347" "01804" "COL11A1_000058" "g.103468295C>T" "" "" "" "COL11A1(NM_001190709.1):c.1926+8G>A (p.(=)), COL11A1(NM_080629.2):c.2079+8G>A, COL11A1(NM_080629.3):c.2079+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103002739C>T" "" "likely benign" "" "0000502285" "0" "50" "1" "103468326" "103468326" "subst" "9.75396E-5" "01943" "COL11A1_000156" "g.103468326G>A" "" "" "" "COL11A1(NM_001854.4):c.2020C>T (p.(Pro674Ser)), COL11A1(NM_080629.2):c.2056C>T (p.P686S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103002770G>A" "" "VUS" "" "0000502286" "0" "50" "1" "103468326" "103468326" "subst" "9.75396E-5" "01804" "COL11A1_000156" "g.103468326G>A" "" "" "" "COL11A1(NM_001854.4):c.2020C>T (p.(Pro674Ser)), COL11A1(NM_080629.2):c.2056C>T (p.P686S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103002770G>A" "" "VUS" "" "0000502287" "0" "50" "1" "103468332" "103468332" "subst" "0.000101728" "01943" "COL11A1_000157" "g.103468332C>T" "" "" "" "COL11A1(NM_080629.2):c.2050G>A (p.D684N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103002776C>T" "" "VUS" "" "0000502288" "0" "30" "1" "103468356" "103468356" "subst" "4.06494E-6" "02330" "COL11A1_000158" "g.103468356A>G" "" "" "" "COL11A1(NM_080629.3):c.2035-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103002800A>G" "" "likely benign" "" "0000502289" "0" "30" "1" "103470161" "103470161" "subst" "1.23377E-5" "01943" "COL11A1_000159" "g.103470161T>C" "" "" "" "COL11A1(NM_001854.3):c.1899+3A>G (p.?), COL11A1(NM_080629.2):c.1935+3A>G, COL11A1(NM_080629.3):c.1935+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103004605T>C" "" "likely benign" "" "0000502290" "0" "10" "1" "103471483" "103471488" "del" "0" "02330" "COL11A1_000160" "g.103471483_103471488del" "" "" "" "COL11A1(NM_080629.3):c.1828-15_1828-10delATGATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005927_103005932del" "" "benign" "" "0000502291" "0" "10" "1" "103471483" "103471488" "del" "0" "02329" "COL11A1_000160" "g.103471483_103471488del" "" "" "" "COL11A1(NM_080629.3):c.1828-15_1828-10delATGATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005927_103005932del" "" "benign" "" "0000502292" "0" "10" "1" "103471483" "103471488" "dup" "0" "02329" "COL11A1_000161" "g.103471483_103471488dup" "" "" "" "COL11A1(NM_080629.3):c.1828-18_1828-13dupATGATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005927_103005932dup" "" "benign" "" "0000502293" "0" "10" "1" "103471486" "103471488" "dup" "0" "02330" "COL11A1_000118" "g.103471486_103471488dup" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10dupATG, COL11A1(NM_080629.3):c.1828-12_1828-10dupATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005930_103005932dup" "" "benign" "" "0000502294" "0" "30" "1" "103471486" "103471488" "dup" "0" "02329" "COL11A1_000118" "g.103471486_103471488dup" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10dupATG, COL11A1(NM_080629.3):c.1828-12_1828-10dupATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005930_103005932dup" "" "likely benign" "" "0000502295" "0" "10" "1" "103471486" "103471488" "dup" "0" "01943" "COL11A1_000118" "g.103471486_103471488dup" "" "" "" "COL11A1(NM_080629.2):c.1828-12_1828-10dupATG, COL11A1(NM_080629.3):c.1828-12_1828-10dupATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103005930_103005932dup" "" "benign" "" "0000502296" "0" "50" "1" "103471824" "103471824" "subst" "4.11455E-6" "02327" "COL11A1_000162" "g.103471824T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103006268T>A" "" "VUS" "" "0000502297" "0" "30" "1" "103471837" "103471837" "subst" "1.64501E-5" "01943" "COL11A1_000163" "g.103471837G>A" "" "" "" "COL11A1(NM_080629.2):c.1754C>T (p.T585M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103006281G>A" "" "likely benign" "" "0000502298" "0" "50" "1" "103477989" "103477989" "subst" "4.06597E-6" "01804" "COL11A1_000164" "g.103477989T>G" "" "" "" "COL11A1(NM_001190709.1):c.1492A>C (p.(Thr498Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103012433T>G" "" "VUS" "" "0000502299" "0" "10" "1" "103481315" "103481315" "subst" "0" "02330" "COL11A1_000165" "g.103481315A>G" "" "" "" "COL11A1(NM_080629.3):c.1450-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103015759A>G" "" "benign" "" "0000502300" "0" "30" "1" "103487334" "103487334" "subst" "0.000272159" "01943" "COL11A1_000166" "g.103487334T>G" "" "" "" "COL11A1(NM_080629.2):c.1282-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103021778T>G" "" "likely benign" "" "0000502301" "0" "50" "1" "103488342" "103488342" "subst" "0.000369025" "02330" "COL11A1_000073" "g.103488342A>T" "" "" "" "COL11A1(NM_080629.2):c.1237T>A (p.F413I), COL11A1(NM_080629.3):c.1237T>A (p.F413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103022786A>T" "" "VUS" "" "0000502302" "0" "30" "1" "103488522" "103488522" "subst" "0.000818437" "01804" "COL11A1_000076" "g.103488522C>G" "" "" "" "COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q), COL11A1(NM_080629.3):c.1057G>C (p.E353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103022966C>G" "" "likely benign" "" "0000502303" "0" "30" "1" "103488522" "103488522" "subst" "0.000818437" "02329" "COL11A1_000076" "g.103488522C>G" "" "" "" "COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q), COL11A1(NM_080629.3):c.1057G>C (p.E353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103022966C>G" "" "likely benign" "" "0000502304" "0" "30" "1" "103491069" "103491069" "subst" "1.22009E-5" "01943" "COL11A1_000167" "g.103491069C>T" "" "" "" "COL11A1(NM_080629.2):c.1026+8G>A, COL11A1(NM_080629.3):c.1026+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103025513C>T" "" "likely benign" "" "0000502305" "0" "10" "1" "103491069" "103491069" "subst" "1.22009E-5" "02329" "COL11A1_000167" "g.103491069C>T" "" "" "" "COL11A1(NM_080629.2):c.1026+8G>A, COL11A1(NM_080629.3):c.1026+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103025513C>T" "" "benign" "" "0000502308" "0" "30" "1" "103496705" "103496705" "subst" "4.07428E-6" "01943" "COL11A1_000170" "g.103496705C>T" "" "" "" "COL11A1(NM_080629.2):c.747G>A (p.K249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031149C>T" "" "likely benign" "" "0000502309" "0" "30" "1" "103496770" "103496770" "subst" "2.47674E-5" "01804" "COL11A1_000171" "g.103496770C>T" "" "" "" "COL11A1(NM_001190709.1):c.682G>A (p.(Asp228Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031214C>T" "" "likely benign" "" "0000502310" "0" "10" "1" "103496807" "103496807" "subst" "0" "02329" "COL11A1_000172" "g.103496807A>G" "" "" "" "COL11A1(NM_080629.3):c.652-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031251A>G" "" "benign" "" "0000502311" "0" "10" "1" "103496813" "103496813" "subst" "0" "02330" "COL11A1_000173" "g.103496813A>C" "" "" "" "COL11A1(NM_080629.3):c.652-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031257A>C" "" "benign" "" "0000502312" "0" "30" "1" "103496816" "103496818" "dup" "0" "01804" "COL11A1_000086" "g.103496816_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTT (p.(=)), COL11A1(NM_001854.4):c.652-9_652-7dupTTT, COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031260_103031262dup" "" "likely benign" "" "0000502313" "0" "10" "1" "103496817" "103496818" "dup" "0" "01943" "COL11A1_000085" "g.103496817_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-7_652-6insTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-7dupTT, COL11A1(NM_080629.3):c.652-7_652-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031261_103031262dup" "" "benign" "" "0000502314" "0" "30" "1" "103496817" "103496818" "dup" "0" "01804" "COL11A1_000085" "g.103496817_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-7_652-6insTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-7dupTT, COL11A1(NM_080629.3):c.652-7_652-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031261_103031262dup" "" "likely benign" "" "0000502315" "0" "30" "1" "103496818" "103496818" "dup" "0" "01804" "COL11A1_000084" "g.103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6dupT (p.(=)), COL11A1(NM_080629.2):c.652-6dupT, COL11A1(NM_080629.3):c.652-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031262dup" "" "likely benign" "" "0000502316" "0" "10" "1" "103540158" "103540158" "subst" "0.0037532" "02329" "COL11A1_000174" "g.103540158T>C" "" "" "" "COL11A1(NM_080629.3):c.651+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103074602T>C" "" "benign" "" "0000502317" "0" "30" "1" "103540213" "103540213" "subst" "0.000537162" "02330" "COL11A1_000175" "g.103540213C>A" "" "" "" "COL11A1(NM_080629.2):c.612G>T (p.T204=), COL11A1(NM_080629.3):c.612G>T (p.T204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103074657C>A" "" "likely benign" "" "0000502318" "0" "50" "1" "103540265" "103540265" "subst" "0.000284794" "01804" "COL11A1_000176" "g.103540265G>A" "" "" "" "COL11A1(NM_001190709.1):c.560C>T (p.(Thr187Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103074709G>A" "" "VUS" "" "0000502319" "0" "30" "1" "103540340" "103540340" "subst" "6.51423E-5" "01804" "COL11A1_000177" "g.103540340A>T" "" "" "" "COL11A1(NM_001190709.1):c.489-4T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103074784A>T" "" "likely benign" "" "0000502320" "0" "30" "1" "103544379" "103544379" "subst" "4.07987E-6" "02330" "COL11A1_000178" "g.103544379T>C" "" "" "" "COL11A1(NM_080629.3):c.323A>G (p.K108R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103078823T>C" "" "likely benign" "" "0000502321" "0" "10" "1" "103544446" "103544446" "del" "0" "02329" "COL11A1_000179" "g.103544446del" "" "" "" "COL11A1(NM_080629.3):c.275-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103078890del" "" "benign" "" "0000502322" "0" "90" "1" "103548360" "103548360" "subst" "0" "01943" "COL11A1_000180" "g.103548360C>T" "" "" "" "COL11A1(NM_080629.2):c.274+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103082804C>T" "" "pathogenic" "" "0000502323" "0" "50" "1" "103548409" "103548409" "subst" "1.62525E-5" "01943" "COL11A1_000181" "g.103548409C>G" "" "" "" "COL11A1(NM_080629.2):c.226G>C (p.V76L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103082853C>G" "" "VUS" "" "0000502324" "0" "10" "1" "103548505" "103548505" "subst" "0.000948442" "02330" "COL11A1_000182" "g.103548505C>T" "" "" "" "COL11A1(NM_080629.2):c.130G>A (p.A44T), COL11A1(NM_080629.3):c.130G>A (p.A44T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103082949C>T" "" "benign" "" "0000502325" "0" "10" "1" "103548505" "103548505" "subst" "0.000948442" "01943" "COL11A1_000182" "g.103548505C>T" "" "" "" "COL11A1(NM_080629.2):c.130G>A (p.A44T), COL11A1(NM_080629.3):c.130G>A (p.A44T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103082949C>T" "" "benign" "" "0000502333" "0" "30" "1" "103573638" "103573638" "subst" "1.22159E-5" "01804" "COL11A1_000101" "g.103573638C>T" "" "" "" "COL11A1(NM_001190709.1):c.97G>A (p.(Val33Ile)), COL11A1(NM_080629.2):c.97G>A (p.V33I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103108082C>T" "" "likely benign" "" "0000604609" "0" "30" "1" "103345315" "103345315" "subst" "0.00044754" "01943" "COL11A1_000183" "g.103345315C>T" "" "" "" "COL11A1(NM_001190709.1):c.5081G>A (p.(Arg1694His)), COL11A1(NM_080629.2):c.5234G>A (p.R1745H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102879759C>T" "" "likely benign" "" "0000604610" "0" "30" "1" "103352568" "103352568" "subst" "4.06633E-6" "01943" "COL11A1_000184" "g.103352568G>T" "" "" "" "COL11A1(NM_080629.2):c.4689C>A (p.S1563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102887012G>T" "" "likely benign" "" "0000604612" "0" "30" "1" "103377744" "103377744" "subst" "0.0005978" "01943" "COL11A1_000185" "g.103377744C>T" "" "" "" "COL11A1(NM_001854.4):c.4057G>A (p.(Ala1353Thr)), COL11A1(NM_080629.2):c.4093G>A (p.A1365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102912188C>T" "" "likely benign" "" "0000604613" "0" "30" "1" "103379183" "103379183" "subst" "0" "01943" "COL11A1_000186" "g.103379183A>G" "" "" "" "COL11A1(NM_080629.2):c.4068+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102913627A>G" "" "likely benign" "" "0000604614" "0" "30" "1" "103381192" "103381192" "subst" "0.000637973" "01943" "COL11A1_000187" "g.103381192C>A" "" "" "" "COL11A1(NM_080629.2):c.3847G>T (p.V1283L), COL11A1(NM_080629.3):c.3847G>T (p.V1283L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102915636C>A" "" "likely benign" "" "0000604615" "0" "70" "1" "103428250" "103428250" "subst" "0" "02327" "COL11A1_000190" "g.103428250C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102962694C>T" "" "likely pathogenic" "" "0000604616" "0" "50" "1" "103440381" "103440381" "subst" "0" "02327" "COL11A1_000191" "g.103440381C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102974825C>T" "" "VUS" "" "0000604617" "0" "90" "1" "103470046" "103470046" "subst" "0" "02327" "COL11A1_000192" "g.103470046T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103004490T>C" "" "pathogenic" "" "0000604618" "0" "50" "1" "103474072" "103474072" "subst" "0" "02327" "COL11A1_000193" "g.103474072C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103008516C>A" "" "VUS" "" "0000604619" "0" "30" "1" "103496815" "103496818" "dup" "0" "02330" "COL11A1_000196" "g.103496815_103496818dup" "" "" "" "COL11A1(NM_080629.3):c.652-9_652-6dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103031259_103031262dup" "" "likely benign" "" "0000604620" "0" "30" "1" "103544384" "103544384" "subst" "0.000147059" "02330" "COL11A1_000098" "g.103544384T>C" "" "" "" "COL11A1(NM_080629.3):c.318A>G (p.K106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103078828T>C" "" "likely benign" "" "0000620313" "0" "50" "1" "103352594" "103352594" "subst" "6.09905E-5" "02329" "COL11A1_000130" "g.103352594T>G" "" "" "" "COL11A1(NM_001854.4):c.4627A>C (p.(Ile1543Leu), p.I1543L), COL11A1(NM_080629.2):c.4663A>C (p.I1555L), COL11A1(NM_080629.3):c.4663A>C (p.I1555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102887038T>G" "" "VUS" "" "0000620314" "0" "30" "1" "103379249" "103379249" "subst" "0.000520135" "02330" "COL11A1_000137" "g.103379249A>G" "" "" "" "COL11A1(NM_080629.2):c.4015-3T>C, COL11A1(NM_080629.3):c.4015-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102913693A>G" "" "likely benign" "" "0000620315" "0" "30" "1" "103405871" "103405871" "subst" "8.1624E-6" "02330" "COL11A1_000188" "g.103405871A>C" "" "" "" "COL11A1(NM_080629.3):c.3420+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102940315A>C" "" "likely benign" "" "0000620316" "0" "10" "1" "103412492" "103412492" "subst" "0.000780621" "02330" "COL11A1_000189" "g.103412492C>T" "" "" "" "COL11A1(NM_080629.3):c.3225G>A (p.G1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102946936C>T" "" "benign" "" "0000620318" "0" "30" "1" "103488445" "103488445" "subst" "4.06623E-6" "01943" "COL11A1_000195" "g.103488445G>A" "" "" "" "COL11A1(NM_080629.2):c.1134C>T (p.D378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103022889G>A" "" "likely benign" "" "0000620319" "0" "30" "1" "103573665" "103573665" "subst" "2.03128E-5" "01943" "COL11A1_000197" "g.103573665A>G" "" "" "" "COL11A1(NM_080629.2):c.70T>C (p.L24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103108109A>G" "" "likely benign" "" "0000638738" "1" "99" "1" "103343598" "103343598" "subst" "4.06984E-6" "00004" "COL11A1_000198" "g.103343598C>A" "" "{DB:DVD}, {PMID:Richards 2013:23922384}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102878042C>A" "" "pathogenic" "" "0000638739" "1" "99" "1" "103354278" "103354278" "subst" "0" "00004" "COL11A1_000199" "g.103354278C>T" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102888722C>T" "" "pathogenic" "" "0000638740" "1" "99" "1" "103354286" "103354286" "subst" "0" "00004" "COL11A1_000133" "g.103354286C>A" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102888730C>A" "" "pathogenic" "" "0000638741" "1" "99" "1" "103354295" "103354295" "subst" "0" "00004" "COL11A1_000200" "g.103354295C>T" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102888739C>T" "" "pathogenic" "" "0000638742" "1" "99" "1" "103354316" "103354316" "subst" "0" "00004" "COL11A1_000201" "g.103354316T>C" "" "{DB:DVD}, {PMID:Poulson 2004:15286167}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102888760T>C" "" "pathogenic" "" "0000638743" "1" "99" "1" "103355063" "103355063" "subst" "0" "00004" "COL11A1_000202" "g.103355063C>T" "" "{DB:DVD}, {PMID:Majava 2007:17236192}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102889507C>T" "" "pathogenic" "" "0000638744" "1" "99" "1" "103363724" "103363724" "subst" "0" "00004" "COL11A1_000203" "g.103363724C>A" "" "{DB:DVD}, {PMID:Richards 2013:23922384}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102898168C>A" "" "pathogenic" "" "0000638745" "1" "99" "1" "103364496" "103364496" "subst" "0" "00004" "COL11A1_000204" "g.103364496C>T" "" "{DB:DVD}, {PMID:Majava 2007:17236192}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102898940C>T" "" "pathogenic" "" "0000638746" "1" "99" "1" "103377714" "103377714" "subst" "0" "00004" "COL11A1_000205" "g.103377714C>T" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102912158C>T" "" "pathogenic" "" "0000638747" "1" "99" "1" "103377717" "103377717" "subst" "1.24966E-5" "00004" "COL11A1_000206" "g.103377717G>A" "" "{DB:DVD}, {PMID:Akawi 2012:21668896}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102912161G>A" "" "pathogenic" "" "0000638748" "1" "99" "1" "103377769" "103377769" "subst" "0" "00004" "COL11A1_000207" "g.103377769C>G" "" "{DB:DVD}, {PMID:Majava 2007:17236192}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102912213C>G" "" "pathogenic" "" "0000638749" "1" "99" "1" "103379907" "103379907" "subst" "0" "00004" "COL11A1_000208" "g.103379907C>T" "" "{DB:DVD}, {PMID:Poulson 2004:15286167}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102914351C>T" "" "pathogenic" "" "0000638750" "1" "99" "1" "103379941" "103379949" "del" "0" "00004" "COL11A1_000209" "g.103379941_103379949del" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102914385_102914393del" "" "pathogenic" "" "0000638751" "1" "99" "1" "103379943" "103379943" "subst" "0" "00004" "COL11A1_000210" "g.103379943C>A" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102914387C>A" "" "pathogenic" "" "0000638752" "1" "77" "1" "103381182" "103381182" "subst" "0" "00004" "COL11A1_000211" "g.103381182C>G" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915626C>G" "" "likely pathogenic" "" "0000638753" "1" "99" "1" "103381184" "103381184" "subst" "0" "00004" "COL11A1_000212" "g.103381184T>G" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915628T>G" "" "pathogenic" "" "0000638754" "1" "99" "1" "103381185" "103381185" "dup" "0" "00004" "COL11A1_000107" "g.103381185dup" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915629dup" "" "pathogenic" "" "0000638755" "1" "99" "1" "103381186" "103381189" "del" "0" "00004" "COL11A1_000213" "g.103381186_103381189del" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915630_102915633del" "" "pathogenic" "" "0000638756" "1" "99" "1" "103381186" "103381186" "subst" "0" "00004" "COL11A1_000109" "g.103381186C>T" "" "{DB:DVD}, {PMID:Majava 2007:17236192}, {PMID:Ala-Kokko 2009:19449424}, {PMID:MARSHALL 1958:13520885}, {PMID:Shanske 1998:9792885}, {PMID:Shanske 1997:9129742}, {PMID:Griffith 1998:9529347}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915630C>T" "" "pathogenic" "" "0000638757" "1" "99" "1" "103381186" "103381186" "subst" "0" "00004" "COL11A1_000108" "g.103381186C>G" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102915630C>G" "" "pathogenic" "" "0000638758" "1" "99" "1" "103385866" "103385866" "subst" "0" "00004" "COL11A1_000214" "g.103385866C>T" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102920310C>T" "" "pathogenic" "" "0000638759" "1" "99" "1" "103385921" "103385921" "subst" "0" "00004" "COL11A1_000215" "g.103385921C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102920365C>T" "" "pathogenic" "" "0000638760" "1" "99" "1" "103386637" "103386637" "subst" "0" "00004" "COL11A1_000216" "g.103386637A>C" "" "{DB:DVD}, {PMID:Akawi 2012:21668896}, {PMID:Akawi 2013:23906683}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102921081A>C" "" "pathogenic" "" "0000638761" "1" "99" "1" "103387129" "103387129" "subst" "0" "00004" "COL11A1_000217" "g.103387129T>C" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102921573T>C" "" "pathogenic" "" "0000638762" "1" "99" "1" "103388899" "103388899" "subst" "0" "00004" "COL11A1_000218" "g.103388899C>G" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102923343C>G" "" "pathogenic" "" "0000638763" "1" "99" "1" "103388919" "103388927" "del" "0" "00004" "COL11A1_000219" "g.103388919_103388927del" "" "{DB:DVD}, {PMID:Hufnagel 2014:25091507}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102923363_102923371del" "" "pathogenic" "" "0000638764" "1" "99" "1" "103400613" "103400613" "subst" "0.000381896" "00004" "COL11A1_000220" "g.103400613C>T" "" "{DB:DVD}, {PMID:Melkoniemi 2003:12673280}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102935057C>T" "" "pathogenic" "" "0000638765" "1" "99" "1" "103404646" "103404646" "subst" "0" "00004" "COL11A1_000221" "g.103404646T>C" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102939090T>C" "" "pathogenic" "" "0000638766" "1" "77" "1" "103404650" "103404650" "subst" "0" "00004" "COL11A1_000222" "g.103404650A>C" "" "{DB:DVD}, {PMID:Richards 2012:22189268}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102939094A>C" "" "likely pathogenic" "" "0000638767" "1" "99" "1" "103412440" "103412440" "subst" "4.0791E-6" "00004" "COL11A1_000223" "g.103412440C>G" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102946884C>G" "" "pathogenic" "" "0000638768" "1" "99" "1" "103412455" "103412455" "subst" "0" "00004" "COL11A1_000224" "g.103412455G>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102946899G>A" "" "pathogenic" "" "0000638769" "1" "99" "1" "103427420" "103427421" "ins" "0" "00004" "COL11A1_000225" "g.103427420_103427421insAA" "" "{DB:DVD}, {PMID:Richards 2010:20513134}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102961864_102961865insAA" "" "pathogenic" "" "0000638770" "1" "99" "1" "103427466" "103427466" "subst" "0" "00004" "COL11A1_000226" "g.103427466C>T" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102961910C>T" "" "pathogenic" "" "0000638771" "1" "99" "1" "103427767" "103427767" "subst" "0" "00004" "COL11A1_000227" "g.103427767C>G" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102962211C>G" "" "pathogenic" "" "0000638772" "1" "99" "1" "103428306" "103428306" "subst" "0" "00004" "COL11A1_000228" "g.103428306C>A" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Zlotogora 1992:1536174}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102962750C>A" "" "pathogenic" "" "0000638773" "1" "99" "1" "103431041" "103431041" "subst" "0" "00004" "COL11A1_000229" "g.103431041A>G" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102965485A>G" "" "pathogenic" "" "0000638774" "1" "99" "1" "103431042" "103431042" "subst" "0" "00004" "COL11A1_000230" "g.103431042C>A" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102965486C>A" "" "pathogenic" "" "0000638775" "1" "99" "1" "103440416" "103440433" "del" "0" "00004" "COL11A1_000231" "g.103440416_103440433del" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102974860_102974877del" "" "pathogenic" "" "0000638776" "1" "99" "1" "103444259" "103444259" "subst" "0" "00004" "COL11A1_000232" "g.103444259C>T" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102978703C>T" "" "pathogenic" "" "0000638777" "1" "77" "1" "103444283" "103444283" "subst" "0.000207204" "00004" "COL11A1_000048" "g.103444283G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102978727G>A" "" "likely pathogenic" "" "0000638778" "1" "99" "1" "103444423" "103444423" "subst" "0" "00004" "COL11A1_000233" "g.103444423C>T" "" "{DB:DVD}, {PMID:Khalifa 2012:22499343}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102978867C>T" "" "pathogenic" "" "0000638779" "1" "99" "1" "103444941" "103444941" "subst" "4.07511E-6" "00004" "COL11A1_000234" "g.103444941T>C" "" "{DB:DVD}, {PMID:Richards 2013:23922384}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102979385T>C" "" "pathogenic" "" "0000638780" "1" "77" "1" "103449602" "103449602" "subst" "0" "00004" "COL11A1_000235" "g.103449602A>T" "" "{DB:DVD}, {PMID:Melkoniemi 2003:12673280}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102984046A>T" "" "likely pathogenic" "" "0000638781" "1" "99" "1" "103453239" "103453239" "subst" "0" "00004" "COL11A1_000236" "g.103453239G>A" "" "{DB:DVD}, {PMID:Yuen 2015:25621899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102987683G>A" "" "pathogenic" "" "0000638782" "1" "99" "1" "103455082" "103455082" "subst" "0" "00004" "COL11A1_000237" "g.103455082C>G" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102989526C>G" "" "pathogenic" "" "0000638783" "1" "99" "1" "103455118" "103455118" "subst" "0" "00004" "COL11A1_000238" "g.103455118C>G" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.102989562C>G" "" "pathogenic" "" "0000638784" "1" "99" "1" "103468302" "103468302" "subst" "0" "00004" "COL11A1_000239" "g.103468302C>T" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103002746C>T" "" "pathogenic" "" "0000638785" "1" "99" "1" "103468320" "103468320" "subst" "0" "00004" "COL11A1_000240" "g.103468320C>G" "" "{DB:DVD}, {PMID:Annunen 1999:10486316}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103002764C>G" "" "pathogenic" "" "0000638786" "1" "99" "1" "103468796" "103468796" "subst" "0" "00004" "COL11A1_000241" "g.103468796C>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103003240C>A" "" "pathogenic" "" "0000638787" "1" "99" "1" "103470045" "103470045" "subst" "0" "00004" "COL11A1_000242" "g.103470045C>T" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103004489C>T" "" "pathogenic" "" "0000638788" "1" "99" "1" "103470189" "103470189" "subst" "0" "00004" "COL11A1_000243" "g.103470189C>A" "" "{DB:DVD}, {PMID:Robin 1993:20301479}, {PMID:Richards 1996:8872475}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103004633C>A" "" "pathogenic" "" "0000638789" "1" "99" "1" "103471389" "103471389" "subst" "0" "00004" "COL11A1_000244" "g.103471389C>T" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103005833C>T" "" "pathogenic" "" "0000638790" "1" "77" "1" "103471624" "103471624" "subst" "0" "00004" "COL11A1_000245" "g.103471624C>T" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103006068C>T" "" "likely pathogenic" "" "0000638791" "1" "99" "1" "103471632" "103471632" "dup" "0" "00004" "COL11A1_000246" "g.103471632dup" "" "{DB:DVD}, {PMID:Tompson 2010:21035103}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103006076dup" "" "pathogenic" "" "0000638792" "1" "99" "1" "103471861" "103471861" "subst" "0" "00004" "COL11A1_000247" "g.103471861C>A" "" "{DB:DVD}, {PMID:Richards 2010:20513134}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103006305C>A" "" "pathogenic" "" "0000638793" "1" "99" "1" "103474016" "103474016" "subst" "0" "00004" "COL11A1_000248" "g.103474016T>G" "" "{DB:DVD}, {PMID:Richards 2010:20513134}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103008460T>G" "" "pathogenic" "" "0000638794" "1" "99" "1" "103474021" "103474021" "subst" "4.0622E-6" "00004" "COL11A1_000249" "g.103474021G>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103008465G>A" "" "pathogenic" "" "0000638795" "1" "99" "1" "103474074" "103474074" "del" "0" "00004" "COL11A1_000006" "g.103474074del" "" "{DB:DVD}, {PMID:Martin 1999:10573014}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103008518del" "" "pathogenic" "" "0000638796" "1" "99" "1" "103477995" "103477995" "subst" "0" "00004" "COL11A1_000250" "g.103477995C>A" "" "{DB:DVD}, {PMID:Acke 2014:25240749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103012439C>A" "" "pathogenic" "" "0000638797" "1" "99" "1" "103481296" "103481296" "dup" "0" "00004" "COL11A1_000251" "g.103481296dup" "" "{DB:DVD}, {PMID:Richards 2013:23922384}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103015740dup" "" "pathogenic" "" "0000638798" "1" "99" "1" "103488352" "103488352" "del" "0" "00004" "COL11A1_000074" "g.103488352del" "" "{DB:DVD}, {PMID:Alzahrani 2012:23026214}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103022796del" "" "pathogenic" "" "0000638799" "1" "99" "1" "103488576" "103488576" "subst" "4.10203E-6" "00004" "COL11A1_000252" "g.103488576T>C" "" "{DB:DVD}, {PMID:Richards 2013:23922384}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103023020T>C" "" "pathogenic" "" "0000638800" "1" "55" "1" "103491776" "103491776" "subst" "2.03079E-5" "00004" "COL11A1_000253" "g.103491776G>A" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103026220G>A" "" "VUS" "" "0000638801" "1" "99" "1" "103491958" "103491958" "subst" "0" "00004" "COL11A1_000254" "g.103491958A>C" "" "{DB:DVD}, {PMID:Tilson MD 3rd 2006:17182944}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103026402A>C" "" "pathogenic" "" "0000638802" "1" "99" "1" "103540265" "103540265" "subst" "0.000284794" "00004" "COL11A1_000176" "g.103540265G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103074709G>A" "" "pathogenic" "" "0000638803" "1" "55" "1" "103548420" "103548420" "subst" "0.000190964" "00004" "COL11A1_000255" "g.103548420G>C" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.103082864G>C" "" "VUS" "" "0000647320" "1" "90" "1" "103385921" "103385921" "subst" "0" "03575" "COL11A1_000215" "g.103385921C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727503881}" "Germline" "" "rs727503881" "0" "" "" "g.102920365C>T" "" "pathogenic" "" "0000647321" "1" "10" "1" "103548497" "103548497" "subst" "0.0608142" "03575" "COL11A1_000100" "g.103548497A>C" "123/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "123 heterozygous; {DB:CLININrs11164663}" "Germline" "" "rs11164663" "0" "" "" "g.103082941A>C" "" "benign" "" "0000653566" "0" "30" "1" "103352544" "103352544" "subst" "1.62624E-5" "02330" "COL11A1_000256" "g.103352544T>C" "" "" "" "COL11A1(NM_080629.3):c.4713A>G (p.E1571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102886988T>C" "" "likely benign" "" "0000653567" "0" "50" "1" "103381215" "103381215" "subst" "2.84486E-5" "02327" "COL11A1_000257" "g.103381215G>A" "" "" "" "COL11A1(NM_001854.3):c.3788C>T (p.(Pro1263Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102915659G>A" "" "VUS" "" "0000653568" "0" "50" "1" "103427469" "103427469" "subst" "0" "01804" "COL11A1_000258" "g.103427469G>A" "" "" "" "COL11A1(NM_001190709.1):c.3004C>T (p.(Pro1002Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102961913G>A" "" "VUS" "" "0000653569" "0" "50" "1" "103427471" "103427471" "subst" "0" "01804" "COL11A1_000259" "g.103427471G>C" "" "" "" "COL11A1(NM_001190709.1):c.3002C>G (p.(Ala1001Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102961915G>C" "" "VUS" "" "0000653570" "0" "30" "1" "103444107" "103444107" "subst" "0" "02329" "COL11A1_000260" "g.103444107A>C" "" "" "" "COL11A1(NM_080629.3):c.2790+157T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102978551A>C" "" "likely benign" "" "0000653571" "0" "50" "1" "103474069" "103474069" "subst" "0" "02327" "COL11A1_000261" "g.103474069C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103008513C>A" "" "VUS" "" "0000653572" "0" "50" "1" "103491112" "103491112" "del" "0" "02327" "COL11A1_000262" "g.103491112del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103025556del" "" "VUS" "" "0000653573" "0" "90" "1" "103544218" "103544218" "subst" "0" "02327" "COL11A1_000094" "g.103544218C>T" "" "" "" "COL11A1(NM_080629.2):c.484G>A (p.G162R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103078662C>T" "" "pathogenic" "" "0000668949" "3" "10" "1" "103548497" "103548497" "subst" "0.0608142" "03575" "COL11A1_000100" "g.103548497A>C" "3/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs11164663}" "Germline" "" "rs11164663" "0" "" "" "g.103082941A>C" "" "benign" "" "0000674733" "0" "50" "1" "103348796" "103348796" "subst" "0" "01807" "COL11A1_000263" "g.103348796C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000675382" "0" "50" "1" "103364248" "103364248" "subst" "0.000134084" "02330" "COL11A1_000020" "g.103364248C>T" "" "" "" "COL11A1(NM_001854.3):c.4222G>A (p.(Gly1408Ser)), COL11A1(NM_001854.4):c.4222G>A (p.G1408S), COL11A1(NM_080629.3):c.4258G>A (p.G1420S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675383" "0" "90" "1" "103388897" "103388897" "del" "0" "01943" "COL11A1_000264" "g.103388897del" "" "" "" "COL11A1(NM_080629.2):c.3687delC (p.M1230Wfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675384" "0" "50" "1" "103481286" "103481286" "subst" "1.67368E-5" "01943" "COL11A1_000007" "g.103481286G>A" "" "" "" "COL11A1(NM_080629.2):c.1462C>T (p.R488C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675385" "0" "30" "1" "103544374" "103544374" "subst" "0.000723376" "01804" "COL11A1_000097" "g.103544374C>G" "" "" "" "COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R), COL11A1(NM_080629.3):c.328G>C (p.G110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686099" "11" "70" "1" "103496801" "103496801" "subst" "0" "02404" "COL11A1_000265" "g.103496801C>G" "" "{PMID:Rad 2020:33169910}" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV-RCV:000487702.2}" "likely pathogenic (dominant)" "ACMG" "0000686100" "0" "70" "1" "103363679" "103363679" "subst" "0" "02404" "COL11A1_000266" "g.103363679A>G" "" "{PMID:Rad 2020:33169910}" "" "" "" "De novo" "yes" "" "0" "" "" "" "{CV-RCV:000585624.2}" "likely pathogenic (dominant)" "ACMG" "0000686131" "11" "70" "1" "103496801" "103496801" "subst" "0" "02404" "COL11A1_000265" "g.103496801C>G" "" "{PMID:Rad 2020:33169910}" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV-RCV:000487702.2}" "likely pathogenic (dominant)" "ACMG" "0000686132" "0" "70" "1" "103363679" "103363679" "subst" "0" "02404" "COL11A1_000266" "g.103363679A>G" "" "{PMID:Rad 2020:33169910}" "" "" "" "De novo" "yes" "" "0" "" "" "" "{CV-RCV:000585624.2}" "likely pathogenic (dominant)" "ACMG" "0000687717" "21" "90" "1" "103462631" "103462631" "subst" "0" "02544" "COL11A1_000268" "g.103462631C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000687718" "0" "90" "1" "103435830" "103435830" "subst" "0" "02544" "COL11A1_000269" "g.103435830T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000687720" "0" "90" "1" "103427417" "103427417" "subst" "0" "02544" "COL11A1_000267" "g.103427417C>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000687724" "0" "90" "1" "103462631" "103462631" "subst" "0" "02544" "COL11A1_000268" "g.103462631C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "" "0000687726" "0" "90" "1" "103435830" "103435830" "subst" "0" "02544" "COL11A1_000269" "g.103435830T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000687795" "0" "30" "1" "103412452" "103412452" "subst" "0.000110097" "01943" "COL11A1_000270" "g.103412452G>T" "" "" "" "COL11A1(NM_001854.4):c.3229C>A (p.(Pro1077Thr), p.P1077T), COL11A1(NM_080629.2):c.3265C>A (p.P1089T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687796" "0" "70" "1" "103444259" "103444259" "subst" "0" "02327" "COL11A1_000232" "g.103444259C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000704168" "0" "70" "1" "103354176" "103354176" "subst" "0" "01807" "COL11A1_000271" "g.103354176C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000709008" "0" "70" "1" "103470201" "103471403" "delins" "0" "01164" "COL11A1_000272" "g.103470201_103471403delinsA" "" "" "" "" "ACMG: PVS1, PM2 class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000713936" "1" "90" "1" "103352429" "103352429" "subst" "0" "00000" "COL11A1_000273" "g.103352429C>A" "" "{PMID:Zhou 2018:29453956}" "" "4828G>T (G1598C)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713937" "1" "90" "1" "103388935" "103388935" "subst" "0" "00000" "COL11A1_000274" "g.103388935C>T" "" "{PMID:Zhou 2018:29453956}" "" "3647G>A (Gly1216Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713938" "1" "90" "1" "103428307" "103428307" "subst" "1.21903E-5" "00000" "COL11A1_000111" "g.103428307C>T" "" "{PMID:Zhou 2018:29453956}" "" "2962G>A (Gly988Ser)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713939" "1" "90" "1" "103440384" "103440384" "subst" "0" "00000" "COL11A1_000275" "g.103440384A>G" "" "{PMID:Zhou 2018:29453956}" "" "2844+2T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713940" "1" "90" "1" "103453241" "103453241" "subst" "0" "00000" "COL11A1_000276" "g.103453241C>A" "" "{PMID:Zhou 2018:29453956}" "" "2486G>T (Gly829Val)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713941" "1" "90" "1" "103471817" "103471817" "subst" "0" "00000" "COL11A1_000277" "g.103471817C>A" "" "{PMID:Zhou 2018:29453956}" "" "1773+1G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713942" "1" "90" "1" "103474074" "103474074" "del" "0" "00000" "COL11A1_000006" "g.103474074del" "" "{PMID:Zhou 2018:29453956}" "" "1666-2delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000716639" "0" "30" "1" "103356072" "103356072" "del" "0" "02329" "COL11A1_000278" "g.103356072del" "" "" "" "COL11A1(NM_080629.3):c.4339-12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716640" "0" "50" "1" "103364277" "103364277" "subst" "5.2818E-5" "01943" "COL11A1_000279" "g.103364277T>G" "" "" "" "COL11A1(NM_080629.2):c.4229A>C (p.Q1410P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716641" "0" "10" "1" "103364285" "103364285" "subst" "0.00281164" "02329" "COL11A1_000021" "g.103364285G>A" "" "" "" "COL11A1(NM_080629.2):c.4221C>T (p.V1407=), COL11A1(NM_080629.3):c.4221C>T (p.V1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716642" "0" "30" "1" "103379908" "103379908" "subst" "4.07581E-6" "01943" "COL11A1_000280" "g.103379908T>C" "" "" "" "COL11A1(NM_080629.2):c.4014A>G (p.A1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716643" "0" "70" "1" "103435819" "103435819" "subst" "0" "02329" "COL11A1_000045" "g.103435819C>G" "" "" "" "COL11A1(NM_080629.3):c.2854G>C (p.G952R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716644" "0" "50" "1" "103453270" "103453270" "subst" "0.000219795" "02327" "COL11A1_000154" "g.103453270T>A" "" "" "" "COL11A1(NM_001854.4):c.2421A>T (p.(Arg807Ser)), COL11A1(NM_080629.2):c.2457A>T (p.R819S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716645" "0" "70" "1" "103480151" "103480151" "subst" "0" "02327" "COL11A1_000282" "g.103480151C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716646" "0" "30" "1" "103491841" "103491841" "subst" "4.06223E-5" "01943" "COL11A1_000283" "g.103491841T>A" "" "" "" "COL11A1(NM_001854.4):c.828A>T (p.A276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729863" "3" "90" "1" "103444423" "103444423" "subst" "0" "00000" "COL11A1_000233" "g.103444423C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001854.3:c.2702G>A:p.(Gly901Glu)" "" "Germline" "" "" "0" "" "" "g.102978867C>T" "" "pathogenic (recessive)" "" "0000729864" "0" "90" "1" "103468825" "103468825" "subst" "0" "00000" "COL11A1_000281" "g.103468825C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001854.3:c.1945-1G>C" "" "De novo" "" "" "0" "" "" "g.103003269C>G" "" "likely pathogenic (dominant)" "" "0000729865" "1" "90" "1" "103462631" "103462631" "subst" "0" "00000" "COL11A1_000268" "g.103462631C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001854.3:c.2241+5G>T" "" "Germline" "" "" "0" "" "" "g.102997075C>A" "" "likely pathogenic" "" "0000731564" "1" "50" "1" "103461555" "103461555" "subst" "4.07807E-5" "00000" "COL11A1_000054" "g.103461555C>T" "" "{PMID:Comander 2017:28981474}" "" "NM_001854.3:c.2285G>A" "" "Germline" "" "" "0" "" "" "g.102995999C>T" "" "VUS" "" "0000734378" "0" "50" "1" "103471423" "103471423" "subst" "0" "00000" "COL11A1_000284" "g.103471423G>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.103005867G>T" "" "VUS" "" "0000735157" "3" "30" "1" "103467496" "103467496" "subst" "0" "00006" "COL11A1_000285" "g.103467496A>C" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}," "" "" "" "Germline" "" "" "0" "" "" "g.103001940A>C" "" "likely benign" "" "0000735179" "3" "50" "1" "103469989" "103469989" "subst" "0.0296888" "00000" "COL11A1_000061" "g.103469989A>G" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "rs71664954" "0" "" "" "" "" "VUS" "" "0000760091" "0" "50" "1" "103355059" "103355059" "subst" "0.00337509" "00000" "COL11A1_000106" "g.103355059G>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_080629.2:c.4452C>A" "" "Germline" "" "" "0" "" "" "g.102889503G>T" "" "VUS" "" "0000760532" "1" "90" "1" "103381186" "103381186" "subst" "0" "03149" "COL11A1_000109" "g.103381186C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000765433" "1" "90" "1" "103471627" "103471628" "del" "0" "00000" "COL11A1_000290" "g.103471627_103471628del" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.103006071_103006072del" "" "pathogenic" "" "0000765434" "1" "90" "1" "103444972" "103444972" "subst" "0" "00000" "COL11A1_000289" "g.103444972C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.102979416C>T" "" "pathogenic" "" "0000765435" "1" "90" "1" "103388935" "103388935" "subst" "0" "00000" "COL11A1_000288" "g.103388935C>G" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.102923379C>G" "" "pathogenic" "" "0000765436" "1" "90" "1" "103380285" "103380285" "subst" "0" "00000" "COL11A1_000287" "g.103380285C>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.102914729C>A" "" "pathogenic" "" "0000765437" "1" "90" "1" "103354140" "103354140" "subst" "0" "00000" "COL11A1_000286" "g.103354140C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.102888584C>T" "" "pathogenic" "" "0000784616" "0" "50" "1" "103440432" "103440432" "subst" "6.09711E-5" "00000" "COL11A1_000309" "g.103440432T>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "1/1266 control chromosomes" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784644" "0" "50" "1" "103467531" "103467531" "subst" "0" "00000" "COL11A1_000312" "g.103467531T>G" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784656" "0" "50" "1" "103352399" "103352399" "subst" "0" "00000" "COL11A1_000313" "g.103352399T>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000788342" "0" "50" "1" "103345394" "103345394" "subst" "4.88556E-5" "00000" "COL11A1_000291" "g.103345394G>A" "" "{PMID:Katagiri 2014:25268133}" "" "NM_001854 :C5119T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793830" "0" "70" "1" "103352429" "103352429" "subst" "0" "00000" "COL11A1_000273" "g.103352429C>A" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.4828G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102886873C>A" "" "likely pathogenic" "" "0000793831" "0" "70" "1" "103388935" "103388935" "subst" "0" "00000" "COL11A1_000274" "g.103388935C>T" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.3647G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102923379C>T" "" "likely pathogenic" "" "0000793832" "0" "70" "1" "103428307" "103428307" "subst" "0" "00000" "COL11A1_000111" "g.103428307C>T" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.2962G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102962751C>T" "" "likely pathogenic" "" "0000793833" "0" "70" "1" "103440384" "103440384" "subst" "0" "00000" "COL11A1_000294" "g.103440384A>G" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.2844+2T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102974828A>G" "" "likely pathogenic" "" "0000793834" "0" "70" "1" "103453241" "103453241" "subst" "0" "00000" "COL11A1_000276" "g.103453241C>A" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.2486G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102987685C>A" "" "likely pathogenic" "" "0000793835" "0" "70" "1" "103471817" "103471817" "subst" "0" "00000" "COL11A1_000277" "g.103471817C>A" "" "{PMID:Zhou 2011:21677794}" "" "NM_080629.2:c.1773+1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103006261C>A" "" "likely pathogenic" "" "0000793836" "0" "70" "1" "103474074" "103474074" "del" "0" "00000" "COL11A1_000006" "g.103474074del" "" "{PMID:Zhou-2011:21677794}" "" "NM_080629.2:c.1666-2delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794187" "0" "70" "1" "103381185" "103381185" "dup" "0" "03508" "COL11A1_000107" "g.103381185dup" "" "" "" "3699+2dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102915629dup" "" "VUS" "ACMG" "0000798630" "0" "30" "1" "103345340" "103345340" "subst" "0" "01804" "COL11A1_000298" "g.103345340A>G" "" "" "" "COL11A1(NM_001190709.1):c.5056T>C (p.(Ser1686Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798631" "0" "50" "1" "103352594" "103352594" "subst" "6.09905E-5" "02327" "COL11A1_000130" "g.103352594T>G" "" "" "" "COL11A1(NM_001854.4):c.4627A>C (p.(Ile1543Leu), p.I1543L), COL11A1(NM_080629.2):c.4663A>C (p.I1555L), COL11A1(NM_080629.3):c.4663A>C (p.I1555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798632" "0" "30" "1" "103381214" "103381214" "subst" "0.000345447" "02330" "COL11A1_000299" "g.103381214T>C" "" "" "" "COL11A1(NM_080629.3):c.3825A>G (p.P1275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798633" "0" "30" "1" "103427443" "103427443" "subst" "0.00055938" "02330" "COL11A1_000300" "g.103427443G>C" "" "" "" "COL11A1(NM_080629.3):c.3183C>G (p.P1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798634" "0" "30" "1" "103428308" "103428308" "subst" "6.09518E-5" "01943" "COL11A1_000301" "g.103428308G>A" "" "" "" "COL11A1(NM_080629.2):c.2961C>T (p.T987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798635" "0" "30" "1" "103428312" "103428312" "subst" "0.00172309" "02325" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798636" "0" "10" "1" "103431058" "103431058" "subst" "0.00131234" "02330" "COL11A1_000150" "g.103431058T>G" "" "" "" "COL11A1(NM_080629.2):c.2937A>C (p.G979=), COL11A1(NM_080629.3):c.2937A>C (p.G979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798637" "0" "10" "1" "103444970" "103444970" "subst" "0.00768316" "02329" "COL11A1_000052" "g.103444970A>T" "" "" "" "COL11A1(NM_001190709.1):c.2461T>A (p.(Phe821Ile)), COL11A1(NM_080629.2):c.2614T>A (p.F872I), COL11A1(NM_080629.3):c.2614T>A (p.F872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798638" "0" "50" "1" "103496727" "103496727" "subst" "0" "02327" "COL11A1_000302" "g.103496727T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798639" "0" "50" "1" "103548433" "103548433" "subst" "0" "02325" "COL11A1_000303" "g.103548433T>C" "" "" "" "COL11A1(NM_001854.4):c.202A>G (p.K68E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798640" "0" "30" "1" "103573654" "103573654" "subst" "0" "01943" "COL11A1_000304" "g.103573654G>A" "" "" "" "COL11A1(NM_080629.2):c.81C>T (p.L27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798641" "0" "30" "1" "103573683" "103573683" "subst" "0.000410182" "01804" "COL11A1_000305" "g.103573683T>A" "" "" "" "COL11A1(NM_001190709.1):c.52A>T (p.(Thr18Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811754" "0" "50" "1" "103400037" "103400037" "subst" "1.21829E-5" "00000" "COL11A1_000308" "g.103400037A>G" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.3568T>C, p.Phe1190Leu" "unsolved" "De novo" "?" "" "0" "" "" "g.102934481A>G" "" "VUS" "" "0000812513" "0" "50" "1" "103364293" "103364293" "subst" "5.68833E-5" "00000" "COL11A1_000307" "g.103364293C>T" "" "{PMID:Wang 2019:31106028}" "" "c.4177C>T, p.(Gly1393Ser)" "different transcript anderror in annotation: NM_001854.3(COL11A1):c.4177G>A, heterozygous" "Germline" "yes" "" "0" "" "" "g.102898737C>T" "" "VUS" "" "0000812817" "0" "70" "1" "103345316" "103345316" "subst" "4.47584E-5" "00000" "COL11A1_000306" "g.103345316G>A" "" "{PMID:Wang 2019:31106028}" "" "c.5197G>A, p.(Arg1733Cys)" "different transcript anderror in annotation: NM_001854.3(COL11A1):c.5197C>T, compound heterozygous" "Germline" "?" "" "0" "" "" "g.102879760G>A" "" "likely pathogenic" "" "0000812818" "0" "50" "1" "103440432" "103440432" "subst" "6.09711E-5" "00000" "COL11A1_000309" "g.103440432T>C" "" "{PMID:Wang 2019:31106028}" "" "c.2762T>C, p.(Gln921Arg)" "different transcript anderror in annotation: NM_001854.3(COL11A1):c.2762A>G, compound heterozygous" "Germline" "?" "" "0" "" "" "g.102974876T>C" "" "VUS" "" "0000812830" "0" "70" "1" "103540265" "103540265" "subst" "0.000284794" "00000" "COL11A1_000176" "g.103540265G>A" "" "{PMID:Wang 2019:31106028}" "" "c.560G>A, p.(Thr187Met)" "different transcript anderror in annotation: NM_001854.3(COL11A1):c.560C>T, heterozygous" "Germline" "yes" "" "0" "" "" "g.103074709G>A" "" "likely pathogenic" "" "0000814368" "0" "50" "1" "103544374" "103544374" "subst" "0.000723376" "00000" "COL11A1_000097" "g.103544374C>G" "" "{PMID:Lenassi 2020:31848469}" "" "COL11A1 c.328G>C p.(Gly110Arg) hetCOL11A1 c.328G>C p.(Gly110Arg) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.103078818C>G" "" "VUS" "ACMG" "0000824261" "0" "70" "1" "103440441" "103440441" "subst" "0" "00000" "COL11A1_000310" "g.103440441T>C" "" "{PMID:Bell 2021:33494148}" "" "COL11A1 c.2755-2A>G, -" "different transcript:(NM_001854.3) c.2638-2A>G, heterozygous" "Germline" "yes" "" "0" "" "" "g.102974885T>C" "" "likely pathogenic" "" "0000827011" "0" "50" "1" "103345239" "103345239" "subst" "5.70465E-5" "00000" "COL11A1_000311" "g.103345239C>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "COL11A1 c.5274G>A, p.Ala1758Ala" "different transcript, NM_001854.3(COL11A1):c.5274G>A, p.Ala1758Ala, heterozygous" "Unknown" "?" "" "0" "" "" "g.102879683C>T" "" "VUS" "" "0000831121" "21" "70" "1" "103488297" "103488297" "subst" "1.65181E-5" "00006" "COL11A1_000314" "g.103488297C>T" "" "{PMID:Zhang 2015:26377240}" "" "NM_001854.3:c.1245+1G>A" "" "Germline" "" "" "0" "" "" "g.103022741C>T" "" "likely pathogenic" "" "0000848200" "0" "50" "1" "103343718" "103343718" "subst" "4.08447E-6" "02327" "COL11A1_000315" "g.103343718T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848201" "0" "30" "1" "103345315" "103345315" "subst" "0.00044754" "01804" "COL11A1_000183" "g.103345315C>T" "" "" "" "COL11A1(NM_001190709.1):c.5081G>A (p.(Arg1694His)), COL11A1(NM_080629.2):c.5234G>A (p.R1745H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848202" "0" "50" "1" "103345381" "103345381" "subst" "2.44236E-5" "01943" "COL11A1_000317" "g.103345381G>A" "" "" "" "COL11A1(NM_001854.3):c.5132C>T (p.(Thr1711Ile)), COL11A1(NM_080629.2):c.5168C>T (p.T1723I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848203" "0" "70" "1" "103385867" "103385867" "subst" "0" "02325" "COL11A1_000321" "g.103385867C>A" "" "" "" "COL11A1(NM_001854.4):c.3762G>T (p.K1254N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848204" "0" "30" "1" "103385924" "103385924" "subst" "4.06326E-6" "01943" "COL11A1_000322" "g.103385924C>A" "" "" "" "COL11A1(NM_080629.2):c.3745-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848205" "0" "30" "1" "103412450" "103412450" "subst" "0.00024473" "01943" "COL11A1_000323" "g.103412450C>T" "" "" "" "COL11A1(NM_080629.2):c.3267G>A (p.P1089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848206" "0" "50" "1" "103412452" "103412452" "subst" "0.000110097" "02325" "COL11A1_000270" "g.103412452G>T" "" "" "" "COL11A1(NM_001854.4):c.3229C>A (p.(Pro1077Thr), p.P1077T), COL11A1(NM_080629.2):c.3265C>A (p.P1089T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848207" "0" "30" "1" "103468294" "103468294" "subst" "0.000125949" "01943" "COL11A1_000326" "g.103468294G>T" "" "" "" "COL11A1(NM_080629.2):c.2079+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848208" "0" "50" "1" "103470161" "103470161" "subst" "1.23377E-5" "02330" "COL11A1_000159" "g.103470161T>C" "" "" "" "COL11A1(NM_001854.3):c.1899+3A>G (p.?), COL11A1(NM_080629.2):c.1935+3A>G, COL11A1(NM_080629.3):c.1935+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848209" "0" "50" "1" "103481224" "103481224" "subst" "2.10082E-5" "02327" "COL11A1_000328" "g.103481224C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848210" "0" "30" "1" "103484404" "103484404" "subst" "0.000203237" "02330" "COL11A1_000329" "g.103484404G>A" "" "" "" "COL11A1(NM_080629.3):c.1356C>T (p.V452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848211" "0" "30" "1" "103488551" "103488551" "subst" "8.15754E-6" "01943" "COL11A1_000330" "g.103488551G>A" "" "" "" "COL11A1(NM_001854.3):c.992C>T (p.(Pro331Leu)), COL11A1(NM_080629.2):c.1028C>T (p.P343L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856848" "0" "50" "1" "103345260" "103345260" "subst" "4.06855E-6" "02327" "COL11A1_000316" "g.103345260T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856849" "0" "50" "1" "103347257" "103347257" "subst" "0" "02327" "COL11A1_000318" "g.103347257T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856850" "0" "30" "1" "103352520" "103352520" "subst" "0.000211427" "01943" "COL11A1_000319" "g.103352520A>G" "" "" "" "COL11A1(NM_080629.2):c.4737T>C (p.D1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856851" "0" "50" "1" "103352594" "103352594" "subst" "6.09905E-5" "02325" "COL11A1_000130" "g.103352594T>G" "" "" "" "COL11A1(NM_001854.4):c.4627A>C (p.(Ile1543Leu), p.I1543L), COL11A1(NM_080629.2):c.4663A>C (p.I1555L), COL11A1(NM_080629.3):c.4663A>C (p.I1555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856852" "0" "50" "1" "103354183" "103354183" "subst" "0" "01943" "COL11A1_000320" "g.103354183G>T" "" "" "" "COL11A1(NM_080629.2):c.4594C>A (p.P1532T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856853" "0" "30" "1" "103381192" "103381192" "subst" "0.000637973" "02330" "COL11A1_000187" "g.103381192C>A" "" "" "" "COL11A1(NM_080629.2):c.3847G>T (p.V1283L), COL11A1(NM_080629.3):c.3847G>T (p.V1283L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856854" "0" "90" "1" "103449748" "103449748" "subst" "0" "01943" "COL11A1_000324" "g.103449748C>T" "" "" "" "COL11A1(NM_080629.2):c.2539-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856855" "0" "30" "1" "103467976" "103467976" "subst" "0" "01804" "COL11A1_000325" "g.103467976A>G" "" "" "" "COL11A1(NM_001190709.1):c.1980+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856856" "0" "30" "1" "103468831" "103468831" "subst" "0.000315961" "01943" "COL11A1_000327" "g.103468831G>T" "" "" "" "COL11A1(NM_080629.2):c.1981-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856857" "0" "30" "1" "103488522" "103488522" "subst" "0.000818437" "02330" "COL11A1_000076" "g.103488522C>G" "" "" "" "COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q), COL11A1(NM_080629.3):c.1057G>C (p.E353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856858" "0" "30" "1" "103491160" "103491160" "subst" "7.32088E-5" "01804" "COL11A1_000331" "g.103491160C>T" "" "" "" "COL11A1(NM_001190709.1):c.790G>A (p.(Val264Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856859" "0" "30" "1" "103540213" "103540213" "subst" "0.000537162" "01943" "COL11A1_000175" "g.103540213C>A" "" "" "" "COL11A1(NM_080629.2):c.612G>T (p.T204=), COL11A1(NM_080629.3):c.612G>T (p.T204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856860" "0" "50" "1" "103540328" "103540328" "subst" "1.62829E-5" "01943" "COL11A1_000332" "g.103540328C>A" "" "" "" "COL11A1(NM_080629.2):c.497G>T (p.R166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856861" "0" "30" "1" "103548506" "103548506" "subst" "8.141E-6" "02330" "COL11A1_000333" "g.103548506T>C" "" "" "" "COL11A1(NM_080629.3):c.129A>G (p.K43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878050" "0" "70" "1" "103435830" "103435830" "subst" "0" "02544" "COL11A1_000269" "g.103435830T>C" "" "{PMID:Micale 2020:33348901}" "" "" "" "De novo" "" "" "0" "" "" "g.102970274T>C" "" "likely pathogenic" "" "0000878051" "20" "70" "6" "33134289" "33134289" "subst" "8.17595E-6" "02544" "COL11A2_000085" "g.33134289C>T" "" "{PMID:Micale 2020:33348901}" "" "" "" "Germline" "" "" "0" "" "" "g.33166512C>T" "" "likely pathogenic" "" "0000878053" "0" "70" "1" "103427417" "103427417" "subst" "0" "02544" "COL11A1_000267" "g.103427417C>G" "" "{PMID:Micale 2020:33348901}" "" "" "" "De novo" "" "" "0" "" "" "g.102961861C>G" "" "likely pathogenic" "" "0000878054" "0" "70" "1" "103462631" "103462631" "subst" "0" "02544" "COL11A1_000268" "g.103462631C>A" "" "{PMID:Micale 2020:33348901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102997075C>A" "" "likely pathogenic" "" "0000878059" "0" "50" "1" "103462631" "103462631" "subst" "0" "02544" "COL11A1_000268" "g.103462631C>A" "" "" "" "NM_080630.4:c.1893+5G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102997075C>A" "" "VUS" "" "0000878061" "0" "70" "1" "103484415" "103484415" "subst" "0" "02544" "COL11A1_000342" "g.103484415C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103018859C>A" "" "likely pathogenic" "" "0000878065" "0" "70" "1" "103435830" "103435830" "subst" "0" "02544" "COL11A1_000269" "g.103435830T>C" "" "" "" "NM_080630.4:c.2461-2A>G" "" "De novo" "" "" "0" "" "" "g.102970274T>C" "" "likely pathogenic" "" "0000878068" "0" "50" "1" "103548450" "103548450" "subst" "1.62554E-5" "02544" "COL11A1_000344" "g.103548450G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103082894G>C" "" "VUS" "" "0000878071" "0" "50" "1" "103491836" "103491836" "subst" "0" "02544" "COL11A1_000343" "g.103491836T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103026280T>C" "" "VUS" "" "0000878073" "20" "70" "6" "33134289" "33134289" "subst" "8.17595E-6" "02544" "COL11A2_000085" "g.33134289C>T" "" "" "" "NM_080679.3:c.4071+1G>A" "" "Germline" "" "" "0" "" "" "g.33166512C>T" "" "likely pathogenic" "" "0000878082" "0" "50" "1" "103400077" "103400077" "subst" "4.06068E-6" "02544" "COL11A1_000339" "g.103400077C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102934521C>G" "" "VUS" "" "0000878101" "20" "90" "1" "103488297" "103488297" "subst" "1.65181E-5" "02544" "COL11A1_000314" "g.103488297C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103022741C>T" "" "pathogenic" "" "0000878103" "20" "50" "1" "103354302" "103354302" "subst" "0" "02544" "COL11A1_000336" "g.103354302G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102888746G>A" "" "VUS" "" "0000878136" "0" "50" "6" "33133532" "33133532" "subst" "2.4566E-5" "02544" "COL11A1_000001" "g.33133532G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33165755G>A" "" "VUS" "" "0000878140" "20" "50" "1" "103364516" "103364516" "subst" "0" "02544" "COL11A1_000337" "g.103364516T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102898960T>C" "" "VUS" "" "0000878141" "0" "50" "6" "33144220" "33144220" "subst" "0" "02544" "COL11A1_000003" "g.33144220C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33176443C>T" "" "VUS" "" "0000878145" "0" "50" "1" "103352521" "103352521" "subst" "3.25264E-5" "02544" "COL11A1_000335" "g.103352521T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102886965T>C" "" "VUS" "" "0000878157" "0" "50" "1" "103388933" "103388933" "subst" "0" "02544" "COL11A1_000338" "g.103388933G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102923377G>T" "" "VUS" "" "0000878159" "0" "50" "1" "103470180" "103470180" "subst" "0" "02544" "COL11A1_000341" "g.103470180C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103004624C>T" "" "VUS" "" "0000878165" "0" "70" "6" "33140065" "33140065" "subst" "0" "02544" "COL11A1_000002" "g.33140065C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33172288C>G" "" "likely pathogenic" "" "0000878183" "10" "50" "1" "103352429" "103352429" "subst" "4.0655E-6" "02544" "COL11A1_000334" "g.103352429C>T" "" "" "" "4828G>A (Gly1598Ser)" "" "Germline" "" "" "0" "" "" "g.102886873C>T" "" "VUS" "" "0000878187" "0" "90" "1" "103377717" "103377717" "subst" "1.24966E-5" "02544" "COL11A1_000206" "g.103377717G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102912161G>A" "" "pathogenic" "" "0000878203" "20" "50" "1" "103428282" "103428282" "subst" "1.62493E-5" "02544" "COL11A1_000340" "g.103428282C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.102962726C>T" "" "VUS" "" "0000881274" "0" "70" "1" "103404602" "103404602" "subst" "0" "02300" "COL11A1_000345" "g.103404602T>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.102939046T>G" "" "likely pathogenic (dominant)" "ACMG" "0000882646" "0" "50" "1" "103354147" "103354147" "subst" "0.000264578" "02327" "COL11A1_000346" "g.103354147G>C" "" "" "" "COL11A1(NM_001854.4):c.4594C>G (p.(Pro1532Ala), p.P1532A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882647" "0" "30" "1" "103354154" "103354154" "subst" "0" "02329" "COL11A1_000347" "g.103354154A>G" "" "" "" "COL11A1(NM_080629.3):c.4623T>C (p.L1541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882648" "0" "50" "1" "103354167" "103354167" "subst" "0" "02327" "COL11A1_000348" "g.103354167C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882649" "0" "50" "1" "103363701" "103363701" "subst" "0" "02327" "COL11A1_000349" "g.103363701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882650" "0" "50" "1" "103379194" "103379194" "subst" "4.06299E-6" "02327" "COL11A1_000350" "g.103379194G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882651" "0" "50" "1" "103380292" "103380292" "subst" "0" "02330" "COL11A1_000351" "g.103380292G>C" "" "" "" "COL11A1(NM_080629.3):c.3928C>G (p.P1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882652" "0" "50" "1" "103381216" "103381216" "subst" "0" "01804" "COL11A1_000352" "g.103381216G>A" "" "" "" "COL11A1(NM_001190709.1):c.3670C>T (p.(Pro1224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882653" "0" "90" "1" "103385921" "103385921" "subst" "0" "02329" "COL11A1_000215" "g.103385921C>T" "" "" "" "COL11A1(NM_080629.3):c.3745-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882654" "0" "50" "1" "103428291" "103428291" "subst" "0" "02327" "COL11A1_000353" "g.103428291A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882655" "0" "50" "1" "103444283" "103444283" "subst" "0.000207204" "02327" "COL11A1_000048" "g.103444283G>A" "" "" "" "COL11A1(NM_001190709.1):c.2618C>T (p.(Pro873Leu)), COL11A1(NM_080629.2):c.2771C>T (p.P924L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882656" "0" "50" "1" "103461594" "103461594" "subst" "1.22204E-5" "01804" "COL11A1_000354" "g.103461594G>A" "" "" "" "COL11A1(NM_001190709.1):c.2129C>T (p.(Pro710Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882657" "0" "30" "1" "103488299" "103488299" "subst" "1.23803E-5" "01804" "COL11A1_000355" "g.103488299C>T" "" "" "" "COL11A1(NM_001190709.1):c.1127G>A (p.(Ser376Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882658" "0" "30" "1" "103544374" "103544374" "subst" "0.000723376" "02327" "COL11A1_000097" "g.103544374C>G" "" "" "" "COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R), COL11A1(NM_080629.3):c.328G>C (p.G110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910723" "0" "90" "1" "103387128" "103387128" "subst" "0" "02329" "COL11A1_000356" "g.103387128C>T" "" "" "" "COL11A1(NM_080629.3):c.3691-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910724" "0" "50" "1" "103444283" "103444283" "subst" "0.000207204" "01804" "COL11A1_000048" "g.103444283G>A" "" "" "" "COL11A1(NM_001190709.1):c.2618C>T (p.(Pro873Leu)), COL11A1(NM_080629.2):c.2771C>T (p.P924L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910725" "0" "50" "1" "103444616" "103444616" "subst" "4.06431E-6" "02327" "COL11A1_000357" "g.103444616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910726" "0" "50" "1" "103488447" "103488447" "subst" "4.0661E-6" "01804" "COL11A1_000358" "g.103488447C>T" "" "" "" "COL11A1(NM_001190709.1):c.979G>A (p.(Asp327Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910727" "0" "50" "1" "103491487" "103491487" "subst" "8.15621E-6" "01804" "COL11A1_000359" "g.103491487T>A" "" "" "" "COL11A1(NM_080629.2):c.802A>T (p.(Lys268*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910728" "0" "50" "1" "103496800" "103496800" "subst" "0" "02327" "COL11A1_000360" "g.103496800C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910729" "0" "10" "1" "103496816" "103496818" "dup" "0" "02326" "COL11A1_000086" "g.103496816_103496818dup" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTT (p.(=)), COL11A1(NM_001854.4):c.652-9_652-7dupTTT, COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910730" "0" "50" "1" "103540280" "103540280" "subst" "0" "02327" "COL11A1_000361" "g.103540280C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918860" "0" "50" "1" "103548489" "103548489" "subst" "0.000171029" "04136" "COL11A1_000363" "g.103548489T>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.103082933T>C" "" "VUS" "" "0000918874" "0" "50" "1" "103345240" "103345240" "subst" "9.78059E-5" "04136" "COL11A1_000362" "g.103345240G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.102879684G>A" "" "VUS" "" "0000922894" "0" "50" "1" "103348795" "103348795" "subst" "0" "02327" "COL11A1_000364" "g.103348795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922895" "0" "30" "1" "103380391" "103380392" "dup" "0" "01804" "COL11A1_000036" "g.103380391_103380392dup" "" "" "" "COL11A1(NM_001190709.1):c.3700-14_3700-13dup (p.(=)), COL11A1(NM_001854.4):c.3817-14_3817-13dupTT, COL11A1(NM_080629.3):c.3853-14_3853-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922896" "0" "90" "1" "103381186" "103381186" "del" "0" "02327" "COL11A1_000365" "g.103381186del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922897" "0" "50" "1" "103405898" "103405898" "subst" "0" "01804" "COL11A1_000366" "g.103405898C>T" "" "" "" "COL11A1(NM_001190709.1):c.3252G>A (p.(Gly1084=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922898" "0" "50" "1" "103471639" "103471639" "subst" "4.06078E-6" "02327" "COL11A1_000367" "g.103471639T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922899" "0" "70" "1" "103491170" "103491170" "subst" "0" "02327" "COL11A1_000368" "g.103491170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922900" "0" "50" "1" "103544358" "103544358" "subst" "0" "02327" "COL11A1_000369" "g.103544358A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922901" "0" "30" "1" "103573623" "103573623" "subst" "0" "02330" "COL11A1_000370" "g.103573623T>C" "" "" "" "COL11A1(NM_080629.3):c.106+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927961" "0" "30" "1" "103345430" "103345430" "subst" "0" "02327" "COL11A1_000371" "g.103345430G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927962" "0" "50" "1" "103347308" "103347308" "subst" "0" "02327" "COL11A1_000372" "g.103347308G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927963" "0" "30" "1" "103355059" "103355059" "subst" "0.00337509" "02326" "COL11A1_000106" "g.103355059G>T" "" "" "" "COL11A1(NM_001190709.1):c.4299C>A (p.(Asp1433Glu)), COL11A1(NM_001854.4):c.4416C>A (p.D1472E), COL11A1(NM_080629.2):c.4452C>A (p.D1484E), COL11A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927964" "0" "30" "1" "103379957" "103379957" "subst" "0" "02327" "COL11A1_000373" "g.103379957G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927965" "0" "70" "1" "103444621" "103444621" "subst" "0" "02327" "COL11A1_000374" "g.103444621G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927966" "0" "50" "1" "103455102" "103455102" "subst" "0" "02327" "COL11A1_000375" "g.103455102T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927967" "0" "50" "1" "103544260" "103544260" "subst" "0" "01804" "COL11A1_000376" "g.103544260G>C" "" "" "" "COL11A1(NM_001190709.1):c.442C>G (p.(Pro148Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927968" "0" "30" "1" "103544276" "103544276" "subst" "6.09895E-5" "01804" "COL11A1_000377" "g.103544276G>A" "" "" "" "COL11A1(NM_001190709.1):c.426C>T (p.(His142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944328" "0" "70" "1" "103343631" "103343631" "subst" "4.07004E-6" "00006" "COL11A1_000378" "g.103343631C>A" "" "{PMID:Boucher 2020:33229591}" "" "NM_080629:c.5401G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102878075C>A" "" "likely pathogenic (dominant)" "" "0000944390" "0" "90" "1" "103548477" "103548477" "subst" "2.84729E-5" "00006" "COL11A1_000379" "g.103548477C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.103082921C>T" "" "VUS" "" "0000946916" "0" "50" "1" "103352599" "103352599" "subst" "0" "02329" "COL11A1_000380" "g.103352599T>C" "" "" "" "COL11A1(NM_080629.3):c.4658A>G (p.E1553G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946917" "0" "50" "1" "103354147" "103354147" "subst" "0.000264578" "02325" "COL11A1_000346" "g.103354147G>C" "" "" "" "COL11A1(NM_001854.4):c.4594C>G (p.(Pro1532Ala), p.P1532A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946918" "0" "30" "1" "103385900" "103385900" "subst" "0.000743449" "02330" "COL11A1_000140" "g.103385900C>T" "" "" "" "COL11A1(NM_080629.2):c.3765G>A (p.G1255=), COL11A1(NM_080629.3):c.3765G>A (p.G1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946919" "0" "30" "1" "103400077" "103400077" "subst" "0" "01804" "COL11A1_000144" "g.103400077C>T" "" "" "" "COL11A1(NM_001854.3):c.3528G>A (p.(Gln1176=)), COL11A1(NM_080629.3):c.3564G>A (p.Q1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946920" "0" "70" "1" "103462631" "103462631" "subst" "0" "02327" "COL11A1_000268" "g.103462631C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000953843" "1" "50" "1" "103387079" "103387079" "subst" "0" "00006" "COL11A1_000381" "g.103387079C>T" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.102921523C>T" "" "VUS" "" "0000953844" "1" "70" "1" "103474074" "103474074" "del" "0" "00006" "COL11A1_000006" "g.103474074del" "" "{PMID:Choi 2021:34680973}" "" "1630-2delA" "" "Germline" "" "" "0" "" "" "g.103008518del" "" "likely pathogenic (dominant)" "" "0000953855" "0" "50" "1" "103381185" "103381185" "dup" "0" "00006" "COL11A1_000107" "g.103381185dup" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.102915629dup" "" "VUS" "" "0000953857" "1" "50" "1" "103461447" "103461455" "del" "0" "00006" "COL11A1_000382" "g.103461447_103461455del" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.102995891_102995899del" "" "VUS" "" "0000957507" "20" "70" "1" "103364552" "103364552" "subst" "0" "00006" "COL11A1_000383" "g.103364552T>C" "" "{PMID:Liu 2023:37337769}" "" "NM_080629.2:c.4123-2A>G" "" "Germline" "no" "" "0" "" "" "g.102898996T>C" "" "likely pathogenic (dominant)" "" "0000957508" "0" "70" "1" "103364552" "103364552" "subst" "0" "00006" "COL11A1_000383" "g.103364552T>C" "" "{PMID:Liu 2023:37337769}" "" "NM_080629.2:c.4123-2A>G" "" "Germline" "no" "" "0" "" "" "g.102898996T>C" "" "likely pathogenic (dominant)" "" "0000959352" "1" "50" "1" "103544260" "103544260" "subst" "0" "00006" "COL11A1_000376" "g.103544260G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.103078704G>C" "" "VUS" "ACMG" "0000960349" "0" "30" "1" "103412411" "103412411" "subst" "4.0838E-6" "01804" "COL11A1_000148" "g.103412411A>T" "" "" "" "COL11A1(NM_001190709.1):c.3153T>A (p.(Gly1051=)), COL11A1(NM_080629.2):c.3306T>A (p.G1102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960350" "0" "30" "1" "103474287" "103474287" "subst" "0" "02329" "COL11A1_000384" "g.103474287G>T" "" "" "" "COL11A1(NM_080629.3):c.1666-215C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960352" "0" "30" "1" "103496642" "103496642" "subst" "3.26856E-5" "02329" "COL11A1_000385" "g.103496642G>A" "" "" "" "COL11A1(NM_080629.3):c.780+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960353" "0" "30" "1" "103496805" "103496806" "ins" "0" "01804" "COL11A1_000386" "g.103496805_103496806insGAA" "" "" "" "COL11A1(NM_001190709.1):c.652-6_652-5insTTC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973139" "0" "50" "1" "103345396" "103345396" "subst" "4.07123E-6" "01804" "COL11A1_000387" "g.103345396G>A" "" "" "" "COL11A1(NM_001854.4):c.5117C>T (p.(Ala1706Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973140" "0" "50" "1" "103354147" "103354147" "subst" "0.000264578" "01804" "COL11A1_000346" "g.103354147G>C" "" "" "" "COL11A1(NM_001854.4):c.4594C>G (p.(Pro1532Ala), p.P1532A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973141" "0" "30" "1" "103363740" "103363740" "subst" "0" "01804" "COL11A1_000388" "g.103363740G>A" "" "" "" "COL11A1(NM_001854.4):c.4249-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973142" "0" "50" "1" "103377741" "103377741" "subst" "0" "01804" "COL11A1_000389" "g.103377741C>T" "" "" "" "COL11A1(NM_001854.4):c.4060G>A (p.(Gly1354Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973143" "0" "90" "1" "103379907" "103379907" "subst" "0" "02329" "COL11A1_000208" "g.103379907C>T" "" "" "" "COL11A1(NM_080629.3):c.4014+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973144" "0" "30" "1" "103400000" "103400000" "subst" "0" "01804" "COL11A1_000142" "g.103400000C>G" "" "" "" "COL11A1(NM_001854.4):c.3600+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973145" "0" "30" "1" "103427773" "103427773" "subst" "4.06174E-6" "01804" "COL11A1_000390" "g.103427773A>T" "" "" "" "COL11A1(NM_001854.4):c.3073T>A (p.(Leu1025Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973146" "0" "50" "1" "103453270" "103453270" "subst" "0.000219795" "01804" "COL11A1_000154" "g.103453270T>A" "" "" "" "COL11A1(NM_001854.4):c.2421A>T (p.(Arg807Ser)), COL11A1(NM_080629.2):c.2457A>T (p.R819S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973147" "0" "50" "1" "103455079" "103455079" "subst" "3.65961E-5" "01804" "COL11A1_000391" "g.103455079C>T" "" "" "" "COL11A1(NM_001854.4):c.2389G>A (p.(Asp797Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973148" "0" "50" "1" "103471673" "103471673" "subst" "4.0781E-6" "01804" "COL11A1_000392" "g.103471673C>T" "" "" "" "COL11A1(NM_001854.4):c.1742G>A (p.(Arg581His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973149" "0" "50" "1" "103471847" "103471847" "subst" "1.6443E-5" "02325" "COL11A1_000393" "g.103471847G>A" "" "" "" "COL11A1(NM_001854.4):c.1708C>T (p.P570S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973150" "0" "50" "1" "103471850" "103471850" "del" "0" "02329" "COL11A1_000394" "g.103471850del" "" "" "" "COL11A1(NM_080629.3):c.1745delC (p.P582Lfs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973151" "0" "50" "1" "103481285" "103481285" "subst" "0.00018765" "01804" "COL11A1_000395" "g.103481285C>T" "" "" "" "COL11A1(NM_001854.4):c.1427G>A (p.(Arg476His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990054" "0" "50" "1" "103343582" "103343582" "subst" "1.22071E-5" "01804" "COL11A1_000125" "g.103343582A>T" "" "" "" "COL11A1(NM_001854.3):c.5414T>A (p.(Leu1805His)), COL11A1(NM_080629.3):c.5450T>A (p.L1817H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990055" "0" "50" "1" "103345381" "103345381" "subst" "2.44236E-5" "01804" "COL11A1_000317" "g.103345381G>A" "" "" "" "COL11A1(NM_001854.3):c.5132C>T (p.(Thr1711Ile)), COL11A1(NM_080629.2):c.5168C>T (p.T1723I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990056" "0" "50" "1" "103352416" "103352416" "subst" "2.43916E-5" "01804" "COL11A1_000396" "g.103352416T>C" "" "" "" "COL11A1(NM_001854.3):c.4805A>G (p.(Asn1602Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990057" "0" "30" "1" "103352432" "103352432" "subst" "1.62617E-5" "01804" "COL11A1_000397" "g.103352432T>C" "" "" "" "COL11A1(NM_001854.3):c.4789A>G (p.(Met1597Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990058" "0" "30" "1" "103352560" "103352560" "subst" "3.25343E-5" "01804" "COL11A1_000398" "g.103352560G>A" "" "" "" "COL11A1(NM_001854.3):c.4661C>T (p.(Thr1554Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990059" "0" "50" "1" "103381215" "103381215" "subst" "2.84486E-5" "01804" "COL11A1_000257" "g.103381215G>A" "" "" "" "COL11A1(NM_001854.3):c.3788C>T (p.(Pro1263Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990060" "0" "30" "1" "103405865" "103405865" "subst" "0.000690715" "02330" "COL11A1_000399" "g.103405865C>T" "" "" "" "COL11A1(NM_080629.3):c.3420+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990061" "0" "50" "1" "103405955" "103405955" "subst" "0" "01804" "COL11A1_000400" "g.103405955A>T" "" "" "" "COL11A1(NM_001854.3):c.3312T>A (p.(Asp1104Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990062" "0" "50" "1" "103412425" "103412425" "subst" "4.07963E-6" "01804" "COL11A1_000401" "g.103412425C>A" "" "" "" "COL11A1(NM_001854.3):c.3256G>T (p.(Ala1086Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990063" "0" "30" "1" "103428312" "103428312" "subst" "0.00172309" "02329" "COL11A1_000044" "g.103428312G>T" "" "" "" "COL11A1(NM_001190709.1):c.2804C>A (p.(Pro935Gln)), COL11A1(NM_001854.4):c.2921C>A (p.P974Q), COL11A1(NM_080629.2):c.2957C>A (p.P986Q), COL11A1(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990064" "0" "50" "1" "103453242" "103453242" "subst" "0" "01804" "COL11A1_000402" "g.103453242C>G" "" "" "" "COL11A1(NM_001854.3):c.2449G>C (p.(Gly817Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990065" "0" "50" "1" "103463868" "103463868" "subst" "8.15089E-6" "01804" "COL11A1_000403" "g.103463868G>A" "" "" "" "COL11A1(NM_001854.3):c.2194C>T (p.(Pro732Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990066" "0" "50" "1" "103470161" "103470161" "subst" "1.23377E-5" "01804" "COL11A1_000159" "g.103470161T>C" "" "" "" "COL11A1(NM_001854.3):c.1899+3A>G (p.?), COL11A1(NM_080629.2):c.1935+3A>G, COL11A1(NM_080629.3):c.1935+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990067" "0" "50" "1" "103471441" "103471441" "subst" "0" "01804" "COL11A1_000404" "g.103471441G>C" "" "" "" "COL11A1(NM_001854.3):c.1798C>G (p.(Arg600Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990068" "0" "50" "1" "103478006" "103478006" "subst" "0" "02327" "COL11A1_000405" "g.103478006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990069" "0" "50" "1" "103480102" "103480102" "subst" "0" "01804" "COL11A1_000406" "g.103480102C>T" "" "" "" "COL11A1(NM_001854.3):c.1537G>A (p.(Glu513Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990070" "0" "30" "1" "103488551" "103488551" "subst" "8.15754E-6" "01804" "COL11A1_000330" "g.103488551G>A" "" "" "" "COL11A1(NM_001854.3):c.992C>T (p.(Pro331Leu)), COL11A1(NM_080629.2):c.1028C>T (p.P343L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990071" "0" "50" "1" "103540260" "103540260" "subst" "2.84745E-5" "01804" "COL11A1_000407" "g.103540260G>T" "" "" "" "COL11A1(NM_001854.3):c.565C>A (p.(Pro189Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990072" "0" "50" "1" "103544337" "103544337" "subst" "4.06964E-6" "01804" "COL11A1_000408" "g.103544337T>G" "" "" "" "COL11A1(NM_001854.3):c.365A>C (p.(His122Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016409" "21" "50" "1" "103488383" "103488383" "subst" "0" "04693" "COL11A1_000409" "g.103488383T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103022827T>C" "" "VUS" "ACMG" "0001020263" "0" "30" "1" "103381192" "103381192" "subst" "0.000637973" "03779" "COL11A1_000187" "g.103381192C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs150669855" "0" "" "" "" "" "likely benign" "" "0001024000" "0" "50" "1" "103343582" "103343582" "subst" "1.22071E-5" "02327" "COL11A1_000125" "g.103343582A>T" "" "" "" "COL11A1(NM_001854.3):c.5414T>A (p.(Leu1805His)), COL11A1(NM_080629.3):c.5450T>A (p.L1817H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024001" "0" "50" "1" "103352576" "103352576" "subst" "0" "02327" "COL11A1_000410" "g.103352576A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024002" "0" "30" "1" "103356082" "103356082" "del" "0" "02329" "COL11A1_000411" "g.103356082del" "" "" "" "COL11A1(NM_080629.3):c.4339-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024003" "0" "50" "1" "103364248" "103364248" "subst" "0.000134084" "02325" "COL11A1_000020" "g.103364248C>T" "" "" "" "COL11A1(NM_001854.3):c.4222G>A (p.(Gly1408Ser)), COL11A1(NM_001854.4):c.4222G>A (p.G1408S), COL11A1(NM_080629.3):c.4258G>A (p.G1420S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024004" "0" "50" "1" "103379960" "103379960" "subst" "0" "02327" "COL11A1_000412" "g.103379960C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024005" "0" "10" "1" "103380391" "103380392" "dup" "0" "02326" "COL11A1_000036" "g.103380391_103380392dup" "" "" "" "COL11A1(NM_001190709.1):c.3700-14_3700-13dup (p.(=)), COL11A1(NM_001854.4):c.3817-14_3817-13dupTT, COL11A1(NM_080629.3):c.3853-14_3853-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001029387" "0" "70" "1" "103354150" "103354150" "subst" "0" "01164" "COL11A1_000413" "g.103354150C>T" "" "" "" "" "ACMG: PM1, PP3_MOD, PM2_SUP, PM5_SUP" "Germline" "?" "" "" "" "" "g.102888594C>T" "" "likely pathogenic (dominant)" "ACMG" "0001030994" "0" "50" "1" "103343631" "103343631" "subst" "0" "01804" "COL11A1_000414" "g.103343631C>T" "" "" "" "COL11A1(NM_001854.4):c.5365G>A (p.(Gly1789Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030995" "0" "50" "1" "103352407" "103352407" "subst" "2.43966E-5" "01804" "COL11A1_000415" "g.103352407C>T" "" "" "" "COL11A1(NM_001854.4):c.4814G>A (p.(Arg1605Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030996" "0" "50" "1" "103352594" "103352594" "subst" "6.09905E-5" "01804" "COL11A1_000130" "g.103352594T>G" "" "" "" "COL11A1(NM_001854.4):c.4627A>C (p.(Ile1543Leu), p.I1543L), COL11A1(NM_080629.2):c.4663A>C (p.I1555L), COL11A1(NM_080629.3):c.4663A>C (p.I1555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030997" "0" "30" "1" "103377744" "103377744" "subst" "0.0005978" "01804" "COL11A1_000185" "g.103377744C>T" "" "" "" "COL11A1(NM_001854.4):c.4057G>A (p.(Ala1353Thr)), COL11A1(NM_080629.2):c.4093G>A (p.A1365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030998" "0" "50" "1" "103412452" "103412452" "subst" "0.000110097" "01804" "COL11A1_000270" "g.103412452G>T" "" "" "" "COL11A1(NM_001854.4):c.3229C>A (p.(Pro1077Thr), p.P1077T), COL11A1(NM_080629.2):c.3265C>A (p.P1089T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030999" "0" "50" "1" "103427465" "103427465" "subst" "0" "01804" "COL11A1_000416" "g.103427465C>A" "" "" "" "COL11A1(NM_001854.4):c.3125G>T (p.(Gly1042Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031000" "0" "50" "1" "103427466" "103427466" "subst" "0" "01804" "COL11A1_000417" "g.103427466C>G" "" "" "" "COL11A1(NM_001854.4):c.3124G>C (p.(Gly1042Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031001" "0" "50" "1" "103440436" "103440436" "subst" "0" "01804" "COL11A1_000418" "g.103440436G>A" "" "" "" "COL11A1(NM_001854.4):c.2758C>T (p.(Pro920Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031002" "0" "30" "1" "103444255" "103444255" "subst" "8.12427E-6" "01804" "COL11A1_000419" "g.103444255C>G" "" "" "" "COL11A1(NM_001854.4):c.2754+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031003" "0" "50" "1" "103462630" "103462630" "subst" "0.000114039" "01804" "COL11A1_000056" "g.103462630A>G" "" "" "" "COL11A1(NM_001854.4):c.2241+6T>C, COL11A1(NM_080629.2):c.2277+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031004" "0" "30" "1" "103467508" "103467508" "subst" "0.000576889" "01804" "COL11A1_000420" "g.103467508T>C" "" "" "" "COL11A1(NM_001854.4):c.2115A>G (p.(Gln705=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031005" "0" "50" "1" "103480068" "103480068" "subst" "0" "01804" "COL11A1_000421" "g.103480068C>T" "" "" "" "COL11A1(NM_001854.4):c.1571G>A (p.(Arg524Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031006" "0" "50" "1" "103481221" "103481221" "subst" "0" "01804" "COL11A1_000422" "g.103481221T>C" "" "" "" "COL11A1(NM_001854.4):c.1488+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031007" "0" "50" "1" "103488342" "103488342" "subst" "8.20055E-6" "01804" "COL11A1_000072" "g.103488342A>G" "" "" "" "COL11A1(NM_001854.4):c.1201T>C (p.(Phe401Leu)), COL11A1(NM_080629.3):c.1237T>C (p.F413L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031008" "0" "50" "1" "103488386" "103488386" "subst" "0" "02325" "COL11A1_000423" "g.103488386T>C" "" "" "" "COL11A1(NM_001854.4):c.1157A>G (p.Y386C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031009" "0" "50" "1" "103491776" "103491776" "subst" "2.03079E-5" "01804" "COL11A1_000253" "g.103491776G>A" "" "" "" "COL11A1(NM_001854.4):c.893C>T (p.(Thr298Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031010" "0" "50" "1" "103544283" "103544283" "subst" "0" "01804" "COL11A1_000424" "g.103544283T>C" "" "" "" "COL11A1(NM_001190709.1):c.419A>G (p.(Glu140Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045584" "0" "90" "1" "103355063" "103355063" "subst" "0" "02325" "COL11A1_000202" "g.103355063C>T" "" "" "" "COL11A1(NM_001854.4):c.4412G>A (p.G1471D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045585" "0" "50" "1" "103544224" "103544224" "subst" "6.50803E-5" "02327" "COL11A1_000095" "g.103544224C>T" "" "" "" "COL11A1(NM_080629.2):c.478G>A (p.A160T)" "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 COL11A1 ## Count = 589 "{{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}}" "0000021266" "00025673" "70" "1735" "0" "1735" "0" "c.1735del" "r.(?)" "p.(Arg579GlyfsTer54)" "" "0000021285" "00025673" "70" "2149" "0" "2149" "0" "c.2149C>T" "r.(?)" "p.(Gln717*)" "" "0000079472" "00025673" "90" "3060" "0" "3060" "0" "c.3060T>A" "r.(?)" "p.(Asp1020Glu)" "" "0000080541" "00025673" "50" "3576" "0" "3584" "0" "c.3576_3584del" "r.(?)" "p.(Pro1194_Pro1196del)" "" "0000129051" "00025673" "70" "1630" "-2" "1630" "-2" "c.1630-2del" "r.spl" "p.?" "" "0000169302" "00025673" "70" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Cys)" "" "0000222095" "00025673" "70" "767" "0" "767" "0" "c.767del" "r.(?)" "p.(Pro256LeufsTer3)" "" "0000245401" "00025673" "10" "2578" "0" "2578" "0" "c.2578T>A" "r.(?)" "p.(Phe860Ile)" "" "0000245410" "00025673" "10" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000245478" "00025673" "10" "4140" "13" "4140" "13" "c.4140+13T>A" "r.(=)" "p.(=)" "" "0000245479" "00025673" "10" "4140" "13" "4140" "13" "c.4140+13del" "r.(=)" "p.(=)" "" "0000245481" "00025673" "10" "3817" "-13" "3817" "-13" "c.3817-13del" "r.(=)" "p.(=)" "" "0000245483" "00025673" "10" "1246" "-8" "1246" "-8" "c.1246-8T>C" "r.(=)" "p.(=)" "" "0000245529" "00025673" "30" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Phe401Leu)" "" "0000245605" "00025673" "50" "2611" "-6" "2611" "-6" "c.2611-6T>C" "r.(=)" "p.(=)" "" "0000248297" "00025673" "10" "4770" "0" "4770" "0" "c.4770T>C" "r.(?)" "p.(Ile1590=)" "" "0000248322" "00025673" "10" "4603" "0" "4603" "0" "c.4603T>C" "r.(?)" "p.(Ser1535Pro)" "" "0000248464" "00025673" "10" "2010" "0" "2010" "0" "c.2010T>G" "r.(?)" "p.(Gly670=)" "" "0000248958" "00025673" "10" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000249896" "00025673" "10" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(Ile220=)" "" "0000250000" "00025673" "30" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000250009" "00025673" "10" "1944" "11" "1944" "11" "c.1944+11T>C" "r.(=)" "p.(=)" "" "0000250032" "00025673" "10" "4770" "0" "4770" "0" "c.4770T>C" "r.(?)" "p.(Ile1590=)" "" "0000250057" "00025673" "10" "4603" "0" "4603" "0" "c.4603T>C" "r.(?)" "p.(Ser1535Pro)" "" "0000250135" "00025673" "10" "138" "0" "138" "0" "c.138T>G" "r.(?)" "p.(Asp46Glu)" "" "0000250178" "00025673" "10" "1998" "4" "1998" "4" "c.1998+4T>A" "r.spl?" "p.?" "" "0000250179" "00025673" "10" "275" "-7" "275" "-7" "c.275-7T>C" "r.(=)" "p.(=)" "" "0000250860" "00025673" "10" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000250869" "00025673" "10" "1944" "11" "1944" "11" "c.1944+11T>C" "r.(=)" "p.(=)" "" "0000253120" "00025673" "10" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(Ile220=)" "" "0000254152" "00025673" "30" "2578" "0" "2578" "0" "c.2578T>A" "r.(?)" "p.(Phe860Ile)" "" "0000254344" "00025673" "30" "1449" "0" "1449" "0" "c.1449T>C" "r.(?)" "p.(Asp483=)" "" "0000254419" "00025673" "30" "4332" "0" "4332" "0" "c.4332T>C" "r.(?)" "p.(Gly1444=)" "" "0000255365" "00025673" "70" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Asn398MetfsTer19)" "" "0000255953" "00025673" "50" "1201" "0" "1201" "0" "c.1201T>A" "r.(?)" "p.(Phe401Ile)" "" "0000256584" "00025673" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Val171Ala)" "" "0000256689" "00025673" "50" "2241" "6" "2241" "6" "c.2241+6T>C" "r.(=)" "p.(=)" "" "0000264730" "00025673" "10" "5438" "0" "5438" "0" "c.*17A>G" "r.(=)" "p.(=)" "" "0000264731" "00025673" "30" "1408" "0" "1408" "0" "c.1408G>C" "r.(?)" "p.(Asp470His)" "" "0000264732" "00025673" "10" "1792" "-12" "1792" "-10" "c.1792-12_1792-10del" "r.(=)" "p.(=)" "" "0000264733" "00025673" "10" "2340" "9" "2340" "13" "c.2340+9_2340+13del" "r.(=)" "p.(=)" "" "0000264735" "00025673" "50" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000264736" "00025673" "50" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "" "0000264737" "00025673" "10" "3277" "-13" "3277" "-13" "c.3277-13A>C" "r.(=)" "p.(=)" "" "0000264738" "00025673" "10" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Gly1213=)" "" "0000264742" "00025673" "10" "3817" "-13" "3817" "-13" "c.3817-13dup" "r.(=)" "p.(=)" "" "0000264744" "00025673" "10" "3817" "-14" "3817" "-13" "c.3817-14_3817-13dup" "r.(=)" "p.(=)" "" "0000264746" "00025673" "10" "3979" "-14" "3979" "-14" "c.3979-14A>T" "r.(=)" "p.(=)" "" "0000264747" "00025673" "10" "4140" "10" "4140" "10" "c.4140+10A>T" "r.(=)" "p.(=)" "" "0000264748" "00025673" "30" "4185" "0" "4185" "0" "c.4185C>T" "r.(?)" "p.(Val1395=)" "" "0000264749" "00025673" "10" "4303" "-13" "4303" "-13" "c.4303-13dup" "r.(=)" "p.(=)" "" "0000264750" "00025673" "10" "4465" "-17" "4465" "-17" "c.4465-17G>A" "r.(=)" "p.(=)" "" "0000264751" "00025673" "10" "4468" "0" "4468" "0" "c.4468A>G" "r.(?)" "p.(Ile1490Val)" "" "0000264752" "00025673" "10" "4749" "0" "4749" "0" "c.4749C>T" "r.(?)" "p.(Leu1583=)" "" "0000264753" "00025673" "10" "4972" "-15" "4972" "-15" "c.4972-15G>T" "r.(=)" "p.(=)" "" "0000264755" "00025673" "10" "652" "-6" "652" "-6" "c.652-6dup" "r.(=)" "p.(=)" "" "0000264756" "00025673" "10" "652" "-7" "652" "-6" "c.652-7_652-6dup" "r.(=)" "p.(=)" "" "0000264757" "00025673" "10" "652" "-8" "652" "-6" "c.652-8_652-6dup" "r.(=)" "p.(=)" "" "0000266885" "00025673" "10" "2611" "-19" "2611" "-19" "c.2611-19A>C" "r.(=)" "p.(=)" "" "0000266886" "00025673" "10" "3968" "0" "3968" "0" "c.3968C>T" "r.(?)" "p.(Pro1323Leu)" "" "0000266887" "00025673" "10" "780" "52" "780" "52" "c.780+52C>A" "r.(=)" "p.(=)" "" "0000268159" "00025673" "10" "1308" "19" "1308" "19" "c.1308+19A>G" "r.(=)" "p.(=)" "" "0000268160" "00025673" "10" "1413" "18" "1413" "18" "c.1413+18A>T" "r.(=)" "p.(=)" "" "0000268162" "00025673" "30" "1792" "-12" "1792" "-10" "c.1792-12_1792-10del" "r.(=)" "p.(=)" "" "0000268163" "00025673" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Pro624=)" "" "0000268164" "00025673" "10" "2043" "8" "2043" "8" "c.2043+8G>A" "r.(=)" "p.(=)" "" "0000268165" "00025673" "10" "2611" "-19" "2611" "-19" "c.2611-19A>C" "r.(=)" "p.(=)" "" "0000268166" "00025673" "30" "318" "0" "318" "0" "c.318A>G" "r.(?)" "p.(Lys106=)" "" "0000268167" "00025673" "10" "3168" "15" "3168" "15" "c.3168+15A>G" "r.(=)" "p.(=)" "" "0000268168" "00025673" "10" "3375" "0" "3375" "0" "c.3375C>T" "r.(?)" "p.(Asp1125=)" "" "0000268171" "00025673" "10" "3817" "-13" "3817" "-13" "c.3817-13dup" "r.(=)" "p.(=)" "" "0000268172" "00025673" "10" "3968" "0" "3968" "0" "c.3968C>T" "r.(?)" "p.(Pro1323Leu)" "" "0000268173" "00025673" "10" "3979" "-14" "3979" "-14" "c.3979-14A>T" "r.(=)" "p.(=)" "" "0000268174" "00025673" "10" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000268175" "00025673" "10" "4608" "18" "4608" "18" "c.4608+18A>G" "r.(=)" "p.(=)" "" "0000268176" "00025673" "10" "652" "-7" "652" "-6" "c.652-7_652-6del" "r.(=)" "p.(=)" "" "0000268177" "00025673" "10" "652" "-6" "652" "-6" "c.652-6dup" "r.(=)" "p.(=)" "" "0000268178" "00025673" "10" "652" "-8" "652" "-6" "c.652-8_652-6dup" "r.(=)" "p.(=)" "" "0000268179" "00025673" "10" "898" "-292" "898" "-292" "c.898-292A>C" "r.(=)" "p.(=)" "" "0000268180" "00025673" "30" "898" "-171" "898" "-171" "c.898-171C>G" "r.(=)" "p.(=)" "" "0000270359" "00025673" "10" "1792" "-12" "1792" "-10" "c.1792-12_1792-10del" "r.(=)" "p.(=)" "" "0000270361" "00025673" "10" "2043" "8" "2043" "8" "c.2043+8G>A" "r.(=)" "p.(=)" "" "0000270363" "00025673" "30" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000270364" "00025673" "30" "652" "-6" "652" "-6" "c.652-6dup" "r.(=)" "p.(=)" "" "0000273758" "00025673" "30" "1011" "0" "1011" "0" "c.1011A>T" "r.(?)" "p.(Ile337=)" "" "0000273759" "00025673" "30" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Glu341Gln)" "" "0000273760" "00025673" "50" "1817" "0" "1817" "0" "c.1817C>T" "r.(?)" "p.(Pro606Leu)" "" "0000273761" "00025673" "50" "2232" "0" "2232" "0" "c.2232G>C" "r.(?)" "p.(Lys744Asn)" "" "0000273762" "00025673" "50" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Pro759Leu)" "" "0000273763" "00025673" "30" "2340" "9" "2340" "13" "c.2340+9_2340+13del" "r.(=)" "p.(=)" "" "0000273764" "00025673" "50" "2602" "0" "2602" "0" "c.2602G>C" "r.(?)" "p.(Gly868Arg)" "" "0000273765" "00025673" "50" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Pro912Leu)" "" "0000273766" "00025673" "90" "2760" "0" "2777" "0" "c.2760_2777del" "r.(?)" "p.(Gln921_Pro926del)" "" "0000273767" "00025673" "30" "2766" "0" "2766" "0" "c.2766A>G" "r.(?)" "p.(Gly922=)" "" "0000273768" "00025673" "30" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000273769" "00025673" "30" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "" "0000273770" "00025673" "30" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Gly1213=)" "" "0000273771" "00025673" "30" "3817" "-10" "3817" "-10" "c.3817-10C>A" "r.(=)" "p.(=)" "" "0000273772" "00025673" "30" "4032" "0" "4032" "0" "c.4032G>A" "r.(?)" "p.(Pro1344=)" "" "0000273773" "00025673" "30" "4185" "0" "4185" "0" "c.4185C>T" "r.(?)" "p.(Val1395=)" "" "0000273774" "00025673" "10" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000273775" "00025673" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Ala160Thr)" "" "0000273776" "00025673" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0000273778" "00025673" "10" "652" "-7" "652" "-6" "c.652-7_652-6del" "r.(=)" "p.(=)" "" "0000273779" "00025673" "30" "652" "-6" "652" "-6" "c.652-6dup" "r.(=)" "p.(=)" "" "0000273780" "00025673" "30" "652" "-8" "652" "-6" "c.652-8_652-6dup" "r.(=)" "p.(=)" "" "0000273781" "00025673" "30" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000273783" "00025673" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Ile)" "" "0000320889" "00025673" "10" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000320891" "00025673" "50" "4222" "0" "4222" "0" "c.4222G>A" "r.(?)" "p.(Gly1408Ser)" "" "0000320892" "00025673" "50" "3455" "0" "3455" "0" "c.3455C>G" "r.(?)" "p.(Pro1152Arg)" "" "0000320893" "00025673" "50" "3283" "0" "3283" "0" "c.3283A>C" "r.(?)" "p.(Lys1095Gln)" "" "0000320894" "00025673" "50" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Arg762Gln)" "" "0000320895" "00025673" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Asp347Asn)" "" "0000320896" "00025673" "30" "652" "-6" "652" "-6" "c.652-6del" "r.(=)" "p.(=)" "" "0000320897" "00025673" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "" "0000336919" "00025673" "10" "4608" "18" "4608" "18" "c.4608+18A>G" "r.(=)" "p.(=)" "" "0000336920" "00025673" "10" "4140" "13" "4140" "13" "c.4140+13T>A" "r.(=)" "p.(=)" "" "0000336922" "00025673" "90" "3816" "1" "3816" "1" "c.3816+1G>C" "r.spl?" "p.?" "" "0000336923" "00025673" "90" "3816" "1" "3816" "1" "c.3816+1G>A" "r.spl?" "p.?" "" "0000336924" "00025673" "10" "3168" "15" "3168" "15" "c.3168+15A>G" "r.(=)" "p.(=)" "" "0000336925" "00025673" "10" "2611" "-19" "2611" "-19" "c.2611-19A>C" "r.(=)" "p.(=)" "" "0000336927" "00025673" "10" "2043" "8" "2043" "8" "c.2043+8G>A" "r.(=)" "p.(=)" "" "0000336928" "00025673" "30" "1998" "15" "1998" "15" "c.1998+15A>C" "r.(=)" "p.(=)" "" "0000336929" "00025673" "10" "1998" "4" "1998" "4" "c.1998+4T>A" "r.spl?" "p.?" "" "0000336930" "00025673" "10" "1944" "11" "1944" "11" "c.1944+11T>C" "r.(=)" "p.(=)" "" "0000336931" "00025673" "50" "1845" "5" "1845" "5" "c.1845+5G>C" "r.spl?" "p.?" "" "0000336933" "00025673" "90" "1630" "-2" "1630" "-2" "c.1630-2del" "r.spl?" "p.?" "" "0000336934" "00025673" "10" "1413" "18" "1413" "18" "c.1413+18A>T" "r.(=)" "p.(=)" "" "0000336935" "00025673" "10" "1308" "19" "1308" "19" "c.1308+19A>G" "r.(=)" "p.(=)" "" "0000336937" "00025673" "30" "652" "-14" "652" "-13" "c.652-14_652-13insGTTT" "r.(=)" "p.(=)" "" "0000336938" "00025673" "10" "275" "-7" "275" "-7" "c.275-7T>C" "r.(=)" "p.(=)" "" "0000339240" "00025673" "10" "4770" "0" "4770" "0" "c.4770T>C" "r.(?)" "p.(Ile1590=)" "" "0000339241" "00025673" "10" "4512" "0" "4512" "0" "c.4512T>C" "r.(?)" "p.(Gly1504=)" "" "0000339242" "00025673" "10" "3375" "0" "3375" "0" "c.3375C>T" "r.(?)" "p.(Asp1125=)" "" "0000339243" "00025673" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Pro624=)" "" "0000339244" "00025673" "10" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(Ile220=)" "" "0000343161" "00025673" "90" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Ter)" "" "0000343616" "00025673" "30" "4804" "0" "4804" "0" "c.4804A>T" "r.(?)" "p.(Asn1602Tyr)" "" "0000343921" "00025673" "10" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000343961" "00025673" "50" "5359" "0" "5359" "0" "c.5359G>A" "r.(?)" "p.(Asp1787Asn)" "" "0000344074" "00025673" "30" "1106" "0" "1106" "0" "c.1106A>T" "r.(?)" "p.(Asp369Val)" "" "0000344114" "00025673" "10" "138" "0" "138" "0" "c.138T>G" "r.(?)" "p.(Asp46Glu)" "" "0000345368" "00025673" "10" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Glu341Gln)" "" "0000345720" "00025673" "50" "4222" "0" "4222" "0" "c.4222G>A" "r.(?)" "p.(Gly1408Ser)" "" "0000345745" "00025673" "90" "4529" "0" "4529" "0" "c.4529G>T" "r.(?)" "p.(Gly1510Val)" "" "0000346206" "00025673" "90" "1954" "0" "1954" "0" "c.1954G>T" "r.(?)" "p.(Gly652Cys)" "" "0000346286" "00025673" "90" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Gly826Asp)" "" "0000346344" "00025673" "50" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Gly976Ser)" "" "0000348100" "00025673" "10" "2578" "0" "2578" "0" "c.2578T>A" "r.(?)" "p.(Phe860Ile)" "" "0000348182" "00025673" "10" "3968" "0" "3968" "0" "c.3968C>T" "r.(?)" "p.(Pro1323Leu)" "" "0000348214" "00025673" "10" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000348629" "00025673" "10" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000348739" "00025673" "10" "4603" "0" "4603" "0" "c.4603T>C" "r.(?)" "p.(Ser1535Pro)" "" "0000349995" "00025673" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "0000350493" "00025673" "30" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Ile)" "" "0000350813" "00025673" "90" "3816" "2" "3816" "2" "c.3816+2dup" "r.spl?" "p.?" "" "0000350814" "00025673" "90" "3114" "1" "3114" "1" "c.3114+1G>A" "r.spl?" "p.?" "" "0000484089" "00025673" "90" "1245" "2" "1245" "2" "c.1245+2T>C" "r.spl" "p.?" "" "0000484090" "00025673" "90" "4109" "0" "4126" "0" "c.4109_4126del" "r.(?)" "p.(Ala1370_Gly1375del)" "" "0000502232" "00025673" "10" "5430" "0" "5430" "0" "c.*9C>G" "r.(=)" "p.(=)" "" "0000502233" "00025673" "30" "5414" "0" "5414" "0" "c.5414T>A" "r.(?)" "p.(Leu1805His)" "" "0000502234" "00025673" "10" "5325" "0" "5325" "0" "c.5325T>C" "r.(?)" "p.(Ile1775=)" "" "0000502236" "00025673" "30" "4860" "0" "4860" "0" "c.4860T>C" "r.(?)" "p.(Gly1620=)" "" "0000502237" "00025673" "50" "4742" "0" "4742" "0" "c.4742G>T" "r.(?)" "p.(Gly1581Val)" "" "0000502238" "00025673" "50" "4627" "0" "4627" "0" "c.4627A>C" "r.(?)" "p.(Ile1543Leu)" "" "0000502239" "00025673" "10" "4609" "-19" "4609" "-19" "c.4609-19C>T" "r.(=)" "p.(=)" "" "0000502240" "00025673" "30" "4554" "8" "4554" "8" "c.4554+8C>T" "r.(=)" "p.(=)" "" "0000502241" "00025673" "90" "4547" "0" "4547" "0" "c.4547G>T" "r.(?)" "p.(Gly1516Val)" "" "0000502242" "00025673" "10" "4512" "0" "4512" "0" "c.4512T>C" "r.(?)" "p.(Gly1504=)" "" "0000502243" "00025673" "10" "4512" "0" "4512" "0" "c.4512T>C" "r.(?)" "p.(Gly1504=)" "" "0000502244" "00025673" "10" "4468" "0" "4468" "0" "c.4468A>G" "r.(?)" "p.(Ile1490Val)" "" "0000502245" "00025673" "30" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000502246" "00025673" "50" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000502247" "00025673" "30" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000502248" "00025673" "10" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000502250" "00025673" "10" "4303" "-13" "4303" "-13" "c.4303-13dup" "r.(=)" "p.(=)" "" "0000502251" "00025673" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Thr1392=)" "" "0000502252" "00025673" "10" "4140" "10" "4140" "10" "c.4140+10A>T" "r.(=)" "p.(=)" "" "0000502253" "00025673" "10" "4086" "17" "4086" "17" "c.4086+17C>T" "r.(=)" "p.(=)" "" "0000502254" "00025673" "50" "4032" "1" "4032" "1" "c.4032+1G>T" "r.spl?" "p.?" "" "0000502255" "00025673" "30" "3979" "-3" "3979" "-3" "c.3979-3T>C" "r.spl?" "p.?" "" "0000502256" "00025673" "10" "3925" "-11" "3925" "-11" "c.3925-11C>T" "r.(=)" "p.(=)" "" "0000502257" "00025673" "30" "3925" "-16" "3925" "-16" "c.3925-16C>T" "r.(=)" "p.(=)" "" "0000502258" "00025673" "10" "3817" "-14" "3817" "-13" "c.3817-14_3817-13dup" "r.(=)" "p.(=)" "" "0000502259" "00025673" "10" "3817" "-13" "3817" "-13" "c.3817-13del" "r.(=)" "p.(=)" "" "0000502260" "00025673" "10" "3817" "-13" "3817" "-13" "c.3817-13dup" "r.(=)" "p.(=)" "" "0000502261" "00025673" "90" "3816" "1" "3816" "1" "c.3816+1G>C" "r.spl?" "p.?" "" "0000502263" "00025673" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Gly1243=)" "" "0000502264" "00025673" "50" "3682" "0" "3682" "0" "c.3682G>C" "r.(?)" "p.(Gly1228Arg)" "" "0000502265" "00025673" "50" "3600" "5" "3600" "5" "c.3600+5G>C" "r.spl?" "p.?" "" "0000502266" "00025673" "50" "3590" "0" "3590" "0" "c.3590T>C" "r.(?)" "p.(Ile1197Thr)" "" "0000502267" "00025673" "10" "3528" "0" "3528" "0" "c.3528G>A" "r.(?)" "p.(Gln1176=)" "" "0000502268" "00025673" "30" "3473" "0" "3473" "0" "c.3473T>C" "r.(?)" "p.(Val1158Ala)" "" "0000502269" "00025673" "10" "3447" "0" "3447" "0" "c.3447C>T" "r.(?)" "p.(Pro1149=)" "" "0000502270" "00025673" "30" "3447" "0" "3447" "0" "c.3447C>T" "r.(?)" "p.(Pro1149=)" "" "0000502271" "00025673" "50" "3399" "0" "3399" "0" "c.3399G>T" "r.(?)" "p.(Glu1133Asp)" "" "0000502272" "00025673" "30" "3270" "0" "3270" "0" "c.3270T>A" "r.(?)" "p.(Gly1090=)" "" "0000502274" "00025673" "10" "2976" "0" "2976" "0" "c.2976T>C" "r.(?)" "p.(Pro992=)" "" "0000502275" "00025673" "30" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000502276" "00025673" "30" "2901" "0" "2901" "0" "c.2901A>C" "r.(?)" "p.(Gly967=)" "" "0000502277" "00025673" "10" "2901" "0" "2901" "0" "c.2901A>C" "r.(?)" "p.(Gly967=)" "" "0000502278" "00025673" "90" "2770" "0" "2770" "0" "c.2770C>T" "r.(?)" "p.(Gln924Ter)" "" "0000502279" "00025673" "50" "2759" "0" "2759" "0" "c.2759C>G" "r.(?)" "p.(Pro920Arg)" "" "0000502280" "00025673" "30" "2578" "0" "2578" "0" "c.2578T>A" "r.(?)" "p.(Phe860Ile)" "" "0000502281" "00025673" "30" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Thr822Ala)" "" "0000502282" "00025673" "50" "2421" "0" "2421" "0" "c.2421A>T" "r.(?)" "p.(Arg807Ser)" "" "0000502284" "00025673" "30" "2043" "8" "2043" "8" "c.2043+8G>A" "r.(=)" "p.(=)" "" "0000502285" "00025673" "50" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Pro674Ser)" "" "0000502286" "00025673" "50" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Pro674Ser)" "" "0000502287" "00025673" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Asp672Asn)" "" "0000502288" "00025673" "30" "1999" "-9" "1999" "-9" "c.1999-9T>C" "r.(=)" "p.(=)" "" "0000502289" "00025673" "30" "1899" "3" "1899" "3" "c.1899+3A>G" "r.spl?" "p.?" "" "0000502290" "00025673" "10" "1792" "-15" "1792" "-10" "c.1792-15_1792-10del" "r.(=)" "p.(=)" "" "0000502291" "00025673" "10" "1792" "-15" "1792" "-10" "c.1792-15_1792-10del" "r.(=)" "p.(=)" "" "0000502292" "00025673" "10" "1792" "-15" "1792" "-10" "c.1792-15_1792-10dup" "r.(=)" "p.(=)" "" "0000502293" "00025673" "10" "1792" "-12" "1792" "-10" "c.1792-12_1792-10dup" "r.(=)" "p.(=)" "" "0000502294" "00025673" "30" "1792" "-12" "1792" "-10" "c.1792-12_1792-10dup" "r.(=)" "p.(=)" "" "0000502295" "00025673" "10" "1792" "-12" "1792" "-10" "c.1792-12_1792-10dup" "r.(=)" "p.(=)" "" "0000502296" "00025673" "50" "1731" "0" "1731" "0" "c.1731A>T" "r.(?)" "p.(Gly577=)" "" "0000502297" "00025673" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Thr573Met)" "" "0000502298" "00025673" "50" "1609" "0" "1609" "0" "c.1609A>C" "r.(?)" "p.(Thr537Pro)" "" "0000502299" "00025673" "10" "1414" "-17" "1414" "-17" "c.1414-17T>C" "r.(=)" "p.(=)" "" "0000502300" "00025673" "30" "1246" "-9" "1246" "-9" "c.1246-9A>C" "r.(=)" "p.(=)" "" "0000502301" "00025673" "50" "1201" "0" "1201" "0" "c.1201T>A" "r.(?)" "p.(Phe401Ile)" "" "0000502302" "00025673" "30" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Glu341Gln)" "" "0000502303" "00025673" "30" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Glu341Gln)" "" "0000502304" "00025673" "30" "990" "8" "990" "8" "c.990+8G>A" "r.(=)" "p.(=)" "" "0000502305" "00025673" "10" "990" "8" "990" "8" "c.990+8G>A" "r.(=)" "p.(=)" "" "0000502308" "00025673" "30" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Lys249=)" "" "0000502309" "00025673" "30" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Asp228Asn)" "" "0000502310" "00025673" "10" "652" "-7" "652" "-7" "c.652-7T>C" "r.(=)" "p.(=)" "" "0000502311" "00025673" "10" "652" "-13" "652" "-13" "c.652-13T>G" "r.(=)" "p.(=)" "" "0000502312" "00025673" "30" "652" "-8" "652" "-6" "c.652-8_652-6dup" "r.(=)" "p.(=)" "" "0000502313" "00025673" "10" "652" "-7" "652" "-6" "c.652-7_652-6dup" "r.(=)" "p.(=)" "" "0000502314" "00025673" "30" "652" "-7" "652" "-6" "c.652-7_652-6dup" "r.(=)" "p.(=)" "" "0000502315" "00025673" "30" "652" "-6" "652" "-6" "c.652-6dup" "r.(=)" "p.(=)" "" "0000502316" "00025673" "10" "651" "16" "651" "16" "c.651+16A>G" "r.(=)" "p.(=)" "" "0000502317" "00025673" "30" "612" "0" "612" "0" "c.612G>T" "r.(?)" "p.(Thr204=)" "" "0000502318" "00025673" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000502319" "00025673" "30" "489" "-4" "489" "-4" "c.489-4T>A" "r.spl?" "p.?" "" "0000502320" "00025673" "30" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Lys108Arg)" "" "0000502321" "00025673" "10" "275" "-17" "275" "-17" "c.275-17del" "r.(=)" "p.(=)" "" "0000502322" "00025673" "90" "274" "1" "274" "1" "c.274+1G>A" "r.spl?" "p.?" "" "0000502323" "00025673" "50" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Val76Leu)" "" "0000502324" "00025673" "10" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Ala44Thr)" "" "0000502325" "00025673" "10" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Ala44Thr)" "" "0000502333" "00025673" "30" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Ile)" "" "0000604609" "00025673" "30" "5198" "0" "5198" "0" "c.5198G>A" "r.(?)" "p.(Arg1733His)" "" "0000604610" "00025673" "30" "4653" "0" "4653" "0" "c.4653C>A" "r.(?)" "p.(Ser1551=)" "" "0000604612" "00025673" "30" "4057" "0" "4057" "0" "c.4057G>A" "r.(?)" "p.(Ala1353Thr)" "" "0000604613" "00025673" "30" "4032" "10" "4032" "10" "c.4032+10T>C" "r.(=)" "p.(=)" "" "0000604614" "00025673" "30" "3811" "0" "3811" "0" "c.3811G>T" "r.(?)" "p.(Val1271Leu)" "" "0000604615" "00025673" "70" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Glu995Lys)" "" "0000604616" "00025673" "50" "2808" "5" "2808" "5" "c.2808+5G>A" "r.spl?" "p.?" "" "0000604617" "00025673" "90" "1900" "-2" "1900" "-2" "c.1900-2A>G" "r.spl?" "p.?" "" "0000604618" "00025673" "50" "1630" "0" "1630" "0" "c.1630G>T" "r.(?)" "p.(Gly544Trp)" "" "0000604619" "00025673" "30" "652" "-9" "652" "-6" "c.652-9_652-6dup" "r.(=)" "p.(=)" "" "0000604620" "00025673" "30" "318" "0" "318" "0" "c.318A>G" "r.(?)" "p.(Lys106=)" "" "0000620313" "00025673" "50" "4627" "0" "4627" "0" "c.4627A>C" "r.(?)" "p.(Ile1543Leu)" "" "0000620314" "00025673" "30" "3979" "-3" "3979" "-3" "c.3979-3T>C" "r.spl?" "p.?" "" "0000620315" "00025673" "30" "3384" "12" "3384" "12" "c.3384+12T>G" "r.(=)" "p.(=)" "" "0000620316" "00025673" "10" "3189" "0" "3189" "0" "c.3189G>A" "r.(?)" "p.(Gly1063=)" "" "0000620318" "00025673" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Asp366=)" "" "0000620319" "00025673" "30" "70" "0" "70" "0" "c.70T>C" "r.(?)" "p.(Leu24=)" "" "0000638738" "00025673" "99" "5398" "0" "5398" "0" "c.5398G>T" "r.(?)" "p.(Gly1800Cys)" "" "0000638739" "00025673" "99" "4554" "1" "4554" "1" "c.4554+1G>A" "r.spl" "p.?" "" "0000638740" "00025673" "99" "4547" "0" "4547" "0" "c.4547G>T" "r.(?)" "p.(Gly1516Val)" "" "0000638741" "00025673" "99" "4538" "0" "4538" "0" "c.4538G>A" "r.(?)" "p.(Gly1513Asp)" "" "0000638742" "00025673" "99" "4519" "-2" "4519" "-2" "c.4519-2A>G" "r.spl" "p.?" "" "0000638743" "00025673" "99" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Gly1471Asp)" "" "0000638744" "00025673" "99" "4259" "0" "4259" "0" "c.4259G>T" "r.(?)" "p.(Gly1420Val)" "" "0000638745" "00025673" "99" "4140" "1" "4140" "1" "c.4140+1G>A" "r.spl" "p.?" "" "0000638746" "00025673" "99" "4086" "1" "4086" "1" "c.4086+1G>A" "r.spl" "p.?" "" "0000638747" "00025673" "99" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362Ter)" "" "0000638748" "00025673" "99" "4033" "-1" "4033" "-1" "c.4033-1G>C" "r.spl" "p.?" "" "0000638749" "00025673" "99" "3978" "1" "3978" "1" "c.3978+1G>A" "r.spl" "p.?" "" "0000638750" "00025673" "99" "3937" "0" "3945" "0" "c.3937_3945del" "r.(?)" "p.(Phe1313_Gly1315del)" "" "0000638751" "00025673" "99" "3943" "0" "3943" "0" "c.3943G>T" "r.(?)" "p.(Gly1315Ter)" "" "0000638752" "00025673" "77" "3816" "5" "3816" "5" "c.3816+5G>C" "r.spl?" "p.?" "" "0000638753" "00025673" "99" "3816" "3" "3816" "3" "c.3816+3A>C" "r.spl" "p.?" "" "0000638754" "00025673" "99" "3816" "2" "3816" "2" "c.3816+2dup" "r.spl" "p.?" "" "0000638755" "00025673" "99" "3814" "0" "3816" "1" "c.3814_3816+1del" "r.spl" "p.?" "" "0000638756" "00025673" "99" "3816" "1" "3816" "1" "c.3816+1G>A" "r.spl" "p.?" "" "0000638757" "00025673" "99" "3816" "1" "3816" "1" "c.3816+1G>C" "r.spl" "p.?" "" "0000638758" "00025673" "99" "3762" "1" "3762" "1" "c.3762+1G>A" "r.spl" "p.?" "" "0000638759" "00025673" "99" "3709" "-1" "3709" "-1" "c.3709-1G>A" "r.spl" "p.?" "" "0000638760" "00025673" "99" "3708" "437" "3708" "437" "c.3708+437T>G" "r.(=)" "p.?" "" "0000638761" "00025673" "99" "3655" "-2" "3655" "-2" "c.3655-2A>G" "r.spl" "p.?" "" "0000638762" "00025673" "99" "3647" "0" "3647" "0" "c.3647G>C" "r.(?)" "p.(Gly1216Ala)" "" "0000638763" "00025673" "99" "3627" "0" "3635" "0" "c.3627_3635del" "r.(?)" "p.(Lys1209_Glu1211del)" "" "0000638764" "00025673" "99" "3492" "3" "3492" "3" "c.3492+3G>A" "r.spl" "p.?" "" "0000638765" "00025673" "99" "3385" "-2" "3385" "-2" "c.3385-2A>G" "r.spl" "p.?" "" "0000638766" "00025673" "77" "3385" "-6" "3385" "-6" "c.3385-6T>G" "r.(=)" "p.?" "" "0000638767" "00025673" "99" "3241" "0" "3241" "0" "c.3241G>C" "r.(?)" "p.(Gly1081Arg)" "" "0000638768" "00025673" "99" "3226" "0" "3226" "0" "c.3226C>T" "r.(?)" "p.(Arg1076Cys)" "" "0000638769" "00025673" "99" "3168" "2" "3168" "3" "c.3168+2_3168+3insTT" "r.spl" "p.?" "" "0000638770" "00025673" "99" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Gly1042Arg)" "" "0000638771" "00025673" "99" "3079" "0" "3079" "0" "c.3079G>C" "r.(?)" "p.(Gly1027Arg)" "" "0000638772" "00025673" "99" "2927" "0" "2927" "0" "c.2927G>T" "r.(?)" "p.(Gly976Val)" "" "0000638773" "00025673" "99" "2916" "2" "2916" "2" "c.2916+2T>C" "r.spl" "p.?" "" "0000638774" "00025673" "99" "2916" "1" "2916" "1" "c.2916+1G>T" "r.spl" "p.?" "" "0000638775" "00025673" "99" "2761" "0" "2778" "0" "c.2761_2778del" "r.(?)" "p.(Gln921_Pro926del)" "" "0000638776" "00025673" "99" "2754" "5" "2754" "5" "c.2754+5G>A" "r.spl?" "p.?" "" "0000638777" "00025673" "77" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Pro912Leu)" "" "0000638778" "00025673" "99" "2702" "0" "2702" "0" "c.2702G>A" "r.(?)" "p.(Gly901Glu)" "" "0000638779" "00025673" "99" "2607" "0" "2607" "0" "c.2607A>G" "r.(=)" "p.(Ala869=)" "" "0000638780" "00025673" "77" "2556" "92" "2556" "92" "c.2556+92T>A" "r.(=)" "p.?" "" "0000638781" "00025673" "99" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818Ter)" "" "0000638782" "00025673" "99" "2386" "0" "2386" "0" "c.2386G>C" "r.(?)" "p.(Gly796Arg)" "" "0000638783" "00025673" "99" "2350" "0" "2350" "0" "c.2350G>C" "r.(?)" "p.(Gly784Arg)" "" "0000638784" "00025673" "99" "2043" "1" "2043" "1" "c.2043+1G>A" "r.spl" "p.?" "" "0000638785" "00025673" "99" "2026" "0" "2026" "0" "c.2026G>C" "r.(?)" "p.(Gly676Arg)" "" "0000638786" "00025673" "99" "1973" "0" "1973" "0" "c.1973G>T" "r.(?)" "p.(Gly658Val)" "" "0000638787" "00025673" "99" "1900" "-1" "1900" "-1" "c.1900-1G>A" "r.spl" "p.?" "" "0000638788" "00025673" "99" "1874" "0" "1874" "0" "c.1874G>T" "r.(?)" "p.(Gly625Val)" "" "0000638789" "00025673" "99" "1845" "5" "1845" "5" "c.1845+5G>A" "r.spl?" "p.?" "" "0000638790" "00025673" "77" "1791" "0" "1791" "0" "c.1791G>A" "r.(=)" "p.(Lys597=)" "" "0000638791" "00025673" "99" "1786" "0" "1786" "0" "c.1786dup" "r.(?)" "p.(Ala596GlyfsTer8)" "" "0000638792" "00025673" "99" "1694" "0" "1694" "0" "c.1694G>T" "r.(?)" "p.(Gly565Val)" "" "0000638793" "00025673" "99" "1683" "3" "1683" "3" "c.1683+3A>C" "r.spl?" "p.?" "" "0000638794" "00025673" "99" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Gln561Ter)" "" "0000638795" "00025673" "99" "1630" "-2" "1630" "-2" "c.1630-2del" "r.spl" "p.?" "" "0000638796" "00025673" "99" "1603" "0" "1603" "0" "c.1603G>T" "r.(?)" "p.(Gly535Cys)" "" "0000638797" "00025673" "99" "1421" "0" "1421" "0" "c.1421dup" "r.(?)" "p.(Gly475ArgfsTer9)" "" "0000638798" "00025673" "99" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Asn398MetfsTer19)" "" "0000638799" "00025673" "99" "991" "-24" "991" "-24" "c.991-24A>G" "r.(=)" "p.?" "" "0000638800" "00025673" "55" "893" "0" "893" "0" "c.893C>T" "r.(=)" "p.(Thr298Met)" "" "0000638801" "00025673" "99" "781" "-70" "781" "-70" "c.781-70T>G" "r.(=)" "p.?" "" "0000638802" "00025673" "99" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000638803" "00025673" "55" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Thr72Ser)" "" "0000647320" "00025673" "90" "3709" "-1" "3709" "-1" "c.3709-1G>A" "r.spl?" "p.?" "" "0000647321" "00025673" "10" "138" "0" "138" "0" "c.138T>G" "r.(?)" "p.(Asp46Glu)" "" "0000653566" "00025673" "30" "4677" "0" "4677" "0" "c.4677A>G" "r.(?)" "p.(Glu1559=)" "" "0000653567" "00025673" "50" "3788" "0" "3788" "0" "c.3788C>T" "r.(?)" "p.(Pro1263Leu)" "" "0000653568" "00025673" "50" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Pro1041Ser)" "" "0000653569" "00025673" "50" "3119" "0" "3119" "0" "c.3119C>G" "r.(?)" "p.(Ala1040Gly)" "" "0000653570" "00025673" "30" "2754" "157" "2754" "157" "c.2754+157T>G" "r.(=)" "p.(=)" "" "0000653571" "00025673" "50" "1633" "0" "1633" "0" "c.1633G>T" "r.(?)" "p.(Gly545Trp)" "" "0000653572" "00025673" "50" "955" "0" "955" "0" "c.955del" "r.(?)" "p.(Thr319GlnfsTer25)" "" "0000653573" "00025673" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0000668949" "00025673" "10" "138" "0" "138" "0" "c.138T>G" "r.(?)" "p.(Asp46Glu)" "" "0000674733" "00025673" "50" "4930" "0" "4930" "0" "c.4930G>T" "r.(?)" "p.(Gly1644Cys)" "" "0000675382" "00025673" "50" "4222" "0" "4222" "0" "c.4222G>A" "r.(?)" "p.(Gly1408Ser)" "" "0000675383" "00025673" "90" "3651" "0" "3651" "0" "c.3651del" "r.(?)" "p.(Met1218TrpfsTer54)" "" "0000675384" "00025673" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Cys)" "" "0000675385" "00025673" "30" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "" "0000686099" "00025673" "70" "652" "-1" "652" "-1" "c.652-1G>C" "r.[652_663del,652_666del]" "p.[Gly218_Gln221del,Gly218_Gln222del]" "" "0000686100" "00025673" "70" "4302" "2" "4302" "2" "c.4302+2T>C" "r.[4302_4303insgcga,4302_4303ins[gcga;4302+5_4302+30],4249_4303del]" "p.[Gly1435Alafs*12,Gly1435Alafs*9,Gly1417_Met1434del]" "" "0000686131" "00025673" "70" "652" "-1" "652" "-1" "c.652-1G>C" "r.[652_663del,652_666del]" "p.[Gly218_Gln221del,Gly218_Gln222del]" "" "0000686132" "00025673" "70" "4302" "2" "4302" "2" "c.4302+2T>C" "r.[4302_4303insgcga,4302_4303ins[gcga;4302+5_4302+30],4249_4303del]" "p.[Gly1435Alafs*12,Gly1435Alafs*9,Gly1417_Met1434del]" "" "0000687717" "00025673" "90" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "" "0000687718" "00025673" "90" "2809" "-2" "2809" "-2" "c.2809-2A>G" "r.spl" "p.?" "" "0000687720" "00025673" "90" "3168" "5" "3168" "5" "c.3168+5G>C" "r.spl?" "p.?" "" "0000687724" "00025673" "90" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "" "0000687726" "00025673" "90" "2809" "-2" "2809" "-2" "c.2809-2A>G" "r.spl" "p.?" "" "0000687795" "00025673" "30" "3229" "0" "3229" "0" "c.3229C>A" "r.(?)" "p.(Pro1077Thr)" "" "0000687796" "00025673" "70" "2754" "5" "2754" "5" "c.2754+5G>A" "r.spl?" "p.?" "" "0000704168" "00025673" "70" "4565" "0" "4565" "0" "c.4565G>T" "r.(?)" "p.(Gly1522Val)" "" "0000709008" "00025673" "70" "1836" "0" "1862" "0" "c.1836_1862delinsT" "r.(?)" "p.(Lys612AsnfsTer9)" "" "0000713936" "00025673" "90" "4792" "0" "4792" "0" "c.4792G>T" "r.(?)" "p.(Gly1598Cys)" "" "0000713937" "00025673" "90" "3611" "0" "3611" "0" "c.3611G>A" "r.(?)" "p.(Gly1204Asp)" "" "0000713938" "00025673" "90" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Gly976Ser)" "" "0000713939" "00025673" "90" "2808" "2" "2808" "2" "c.2808+2T>C" "r.spl" "p.?" "" "0000713940" "00025673" "90" "2450" "0" "2450" "0" "c.2450G>T" "r.(?)" "p.(Gly817Val)" "" "0000713941" "00025673" "90" "1737" "1" "1737" "1" "c.1737+1G>T" "r.spl" "p.?" "" "0000713942" "00025673" "90" "1630" "-2" "1630" "-2" "c.1630-2del" "r.spl" "p.?" "" "0000716639" "00025673" "30" "4303" "-12" "4303" "-12" "c.4303-12del" "r.(=)" "p.(=)" "" "0000716640" "00025673" "50" "4193" "0" "4193" "0" "c.4193A>C" "r.(?)" "p.(Gln1398Pro)" "" "0000716641" "00025673" "10" "4185" "0" "4185" "0" "c.4185C>T" "r.(?)" "p.(Val1395=)" "" "0000716642" "00025673" "30" "3978" "0" "3978" "0" "c.3978A>G" "r.(?)" "p.(Ala1326=)" "" "0000716643" "00025673" "70" "2818" "0" "2818" "0" "c.2818G>C" "r.(?)" "p.(Gly940Arg)" "" "0000716644" "00025673" "50" "2421" "0" "2421" "0" "c.2421A>T" "r.(?)" "p.(Arg807Ser)" "" "0000716645" "00025673" "70" "1489" "-1" "1489" "-1" "c.1489-1G>T" "r.spl?" "p.?" "" "0000716646" "00025673" "30" "828" "0" "828" "0" "c.828A>T" "r.(?)" "p.(Ala276=)" "" "0000729863" "00025673" "90" "2702" "0" "2702" "0" "c.2702G>A" "r.(?)" "p.(Gly901Glu)" "" "0000729864" "00025673" "90" "1945" "-1" "1945" "-1" "c.1945-1G>C" "r.spl?" "p.?" "" "0000729865" "00025673" "90" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "" "0000731564" "00025673" "50" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Arg762Gln)" "" "0000734378" "00025673" "50" "1816" "0" "1816" "0" "c.1816C>A" "r.(?)" "p.(Pro606Thr)" "" "0000735157" "00025673" "30" "2127" "0" "2127" "0" "c.2127T>G" "r.(=)" "p.(Gly709=)" "" "0000735179" "00025673" "50" "1944" "11" "1944" "11" "c.1944+11T>C" "r.(?)" "p.(=)" "" "0000760091" "00025673" "50" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000760532" "00025673" "90" "3816" "1" "3816" "1" "c.3816+1G>A" "r.spl" "p.?" "" "0000765433" "00025673" "90" "1787" "0" "1788" "0" "c.1787_1788del" "r.(?)" "p.(Ala596GlufsTer7)" "" "0000765434" "00025673" "90" "2576" "0" "2576" "0" "c.2576G>A" "r.(?)" "p.(Gly859Glu)" "" "0000765435" "00025673" "90" "3611" "0" "3611" "0" "c.3611G>C" "r.(?)" "p.(Gly1204Ala)" "" "0000765436" "00025673" "90" "3899" "0" "3899" "0" "c.3899G>T" "r.(?)" "p.(Gly1300Val)" "" "0000765437" "00025673" "90" "4601" "0" "4601" "0" "c.4601G>A" "r.(?)" "p.(Gly1534Glu)" "" "0000784616" "00025673" "50" "2762" "0" "2762" "0" "c.2762A>G" "r.(?)" "p.(Gln921Arg)" "" "0000784644" "00025673" "50" "2098" "-6" "2098" "-6" "c.2098-6A>C" "r.(?)" "p.(=)" "" "0000784656" "00025673" "50" "4822" "0" "4822" "0" "c.4822A>G" "r.(?)" "p.(Lys1608Glu)" "" "0000788342" "00025673" "50" "5119" "0" "5119" "0" "c.5119C>T" "r.(?)" "p.(Arg1707Trp)" "" "0000793830" "00025673" "70" "4792" "0" "4792" "0" "c.4792G>T" "r.(?)" "p.(Gly1598Cys)" "" "0000793831" "00025673" "70" "3611" "0" "3611" "0" "c.3611G>A" "r.(?)" "p.(Gly1204Asp)" "" "0000793832" "00025673" "70" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Gly976Ser)" "" "0000793833" "00025673" "70" "2808" "2" "2808" "2" "c.2808+2T>C" "r.spl?" "p.?" "36i" "0000793834" "00025673" "70" "2450" "0" "2450" "0" "c.2450G>T" "r.(?)" "p.(Gly817Val)" "" "0000793835" "00025673" "70" "1737" "1" "1737" "1" "c.1737+1G>T" "r.spl" "p.?" "16i" "0000793836" "00025673" "70" "1630" "-2" "1630" "-2" "c.1630-2del" "r.spl" "p.?" "14i" "0000794187" "00025673" "30" "3816" "2" "3816" "2" "c.3816+2dup" "r.spl" "p.?" "" "0000798630" "00025673" "30" "5173" "0" "5173" "0" "c.5173T>C" "r.(?)" "p.(Ser1725Pro)" "" "0000798631" "00025673" "50" "4627" "0" "4627" "0" "c.4627A>C" "r.(?)" "p.(Ile1543Leu)" "" "0000798632" "00025673" "30" "3789" "0" "3789" "0" "c.3789A>G" "r.(?)" "p.(Pro1263=)" "" "0000798633" "00025673" "30" "3147" "0" "3147" "0" "c.3147C>G" "r.(?)" "p.(Pro1049=)" "" "0000798634" "00025673" "30" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(Thr975=)" "" "0000798635" "00025673" "30" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000798636" "00025673" "10" "2901" "0" "2901" "0" "c.2901A>C" "r.(?)" "p.(Gly967=)" "" "0000798637" "00025673" "10" "2578" "0" "2578" "0" "c.2578T>A" "r.(?)" "p.(Phe860Ile)" "" "0000798638" "00025673" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asp242Gly)" "" "0000798639" "00025673" "50" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Lys68Glu)" "" "0000798640" "00025673" "30" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Leu27=)" "" "0000798641" "00025673" "30" "52" "0" "52" "0" "c.52A>T" "r.(?)" "p.(Thr18Ser)" "" "0000811754" "00025673" "50" "3568" "0" "3568" "0" "c.3568T>C" "r.(?)" "p.(Phe1190Leu)" "" "0000812513" "00025673" "50" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Gly1393Ser)" "" "0000812817" "00025673" "70" "5197" "0" "5197" "0" "c.5197C>T" "r.(?)" "p.(Arg1733Cys)" "" "0000812818" "00025673" "50" "2762" "0" "2762" "0" "c.2762A>G" "r.(?)" "p.(Gln921Arg)" "" "0000812830" "00025673" "70" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000814368" "00025673" "50" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "" "0000824261" "00025673" "70" "2755" "-2" "2755" "-2" "c.2755-2A>G" "r.spl?" "p.?" "" "0000827011" "00025673" "50" "5274" "0" "5274" "0" "c.5274G>A" "r.(=)" "p.(=)" "" "0000831121" "00025673" "70" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.?" "" "0000848200" "00025673" "50" "5278" "0" "5278" "0" "c.5278A>G" "r.(?)" "p.(Arg1760Gly)" "" "0000848201" "00025673" "30" "5198" "0" "5198" "0" "c.5198G>A" "r.(?)" "p.(Arg1733His)" "" "0000848202" "00025673" "50" "5132" "0" "5132" "0" "c.5132C>T" "r.(?)" "p.(Thr1711Ile)" "" "0000848203" "00025673" "70" "3762" "0" "3762" "0" "c.3762G>T" "r.(?)" "p.(Lys1254Asn)" "" "0000848204" "00025673" "30" "3709" "-4" "3709" "-4" "c.3709-4G>T" "r.spl?" "p.?" "" "0000848205" "00025673" "30" "3231" "0" "3231" "0" "c.3231G>A" "r.(?)" "p.(Pro1077=)" "" "0000848206" "00025673" "50" "3229" "0" "3229" "0" "c.3229C>A" "r.(?)" "p.(Pro1077Thr)" "" "0000848207" "00025673" "30" "2043" "9" "2043" "9" "c.2043+9C>A" "r.(=)" "p.(=)" "" "0000848208" "00025673" "50" "1899" "3" "1899" "3" "c.1899+3A>G" "r.spl?" "p.?" "" "0000848209" "00025673" "50" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Pro496=)" "" "0000848210" "00025673" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Val440=)" "" "0000848211" "00025673" "30" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Pro331Leu)" "" "0000856848" "00025673" "50" "5253" "0" "5253" "0" "c.5253A>C" "r.(?)" "p.(Lys1751Asn)" "" "0000856849" "00025673" "50" "5036" "0" "5036" "0" "c.5036A>C" "r.(?)" "p.(Lys1679Thr)" "" "0000856850" "00025673" "30" "4701" "0" "4701" "0" "c.4701T>C" "r.(?)" "p.(Asp1567=)" "" "0000856851" "00025673" "50" "4627" "0" "4627" "0" "c.4627A>C" "r.(?)" "p.(Ile1543Leu)" "" "0000856852" "00025673" "50" "4558" "0" "4558" "0" "c.4558C>A" "r.(?)" "p.(Pro1520Thr)" "" "0000856853" "00025673" "30" "3811" "0" "3811" "0" "c.3811G>T" "r.(?)" "p.(Val1271Leu)" "" "0000856854" "00025673" "90" "2503" "-1" "2503" "-1" "c.2503-1G>A" "r.spl?" "p.?" "" "0000856855" "00025673" "30" "2097" "8" "2097" "8" "c.2097+8T>C" "r.(=)" "p.(=)" "" "0000856856" "00025673" "30" "1945" "-7" "1945" "-7" "c.1945-7C>A" "r.(=)" "p.(=)" "" "0000856857" "00025673" "30" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Glu341Gln)" "" "0000856858" "00025673" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Ile)" "" "0000856859" "00025673" "30" "612" "0" "612" "0" "c.612G>T" "r.(?)" "p.(Thr204=)" "" "0000856860" "00025673" "50" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "" "0000856861" "00025673" "30" "129" "0" "129" "0" "c.129A>G" "r.(?)" "p.(Lys43=)" "" "0000878050" "00025673" "70" "2809" "-2" "2809" "-2" "c.2809-2A>G" "r.spl" "p.?" "" "0000878051" "00025673" "70" "4392" "1" "4392" "1" "c.4392+1G>A" "r.spl" "p.?" "60i" "0000878053" "00025673" "70" "3168" "5" "3168" "5" "c.3168+5G>C" "r.spl?" "p.?" "41i" "0000878054" "00025673" "70" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "26i" "0000878059" "00025673" "50" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "24i" "0000878061" "00025673" "70" "1309" "0" "1309" "0" "c.1309G>T" "r.(?)" "p.(Gly437Cys)" "10" "0000878065" "00025673" "70" "2809" "-2" "2809" "-2" "c.2809-2A>G" "r.spl" "p.?" "" "0000878068" "00025673" "50" "185" "0" "185" "0" "c.185C>G" "r.(?)" "p.(Thr62Arg)" "2" "0000878071" "00025673" "50" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Tyr278Cys)" "6" "0000878073" "00025673" "70" "4392" "1" "4392" "1" "c.4392+1G>A" "r.spl" "p.?" "57i" "0000878082" "00025673" "50" "3528" "0" "3528" "0" "c.3528G>C" "r.(?)" "p.(Gln1176His)" "46" "0000878101" "00025673" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.?" "8i" "0000878103" "00025673" "50" "4531" "0" "4531" "0" "c.4531C>T" "r.(?)" "p.(Pro1511Ser)" "61" "0000878136" "00025673" "50" "4544" "0" "4544" "0" "c.4544C>T" "r.(?)" "p.(Ser1515Leu)" "63" "0000878140" "00025673" "50" "4121" "0" "4121" "0" "c.4121A>G" "r.(?)" "p.(Gln1374Arg)" "55" "0000878141" "00025673" "50" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" "27" "0000878145" "00025673" "50" "4700" "0" "4700" "0" "c.4700A>G" "r.(?)" "p.(Asp1567Gly)" "63" "0000878157" "00025673" "50" "3613" "0" "3613" "0" "c.3613C>A" "r.(?)" "p.(Pro1205Thr)" "47" "0000878159" "00025673" "50" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Gly628Asp)" "19" "0000878165" "00025673" "70" "2988" "1" "2988" "1" "c.2988+1G>C" "r.spl" "p.?" "40i" "0000878183" "00025673" "50" "4792" "0" "4792" "0" "c.4792G>A" "r.(?)" "p.(Gly1598Ser)" "63" "0000878187" "00025673" "90" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362Ter)" "54" "0000878203" "00025673" "50" "2951" "0" "2951" "0" "c.2951G>A" "r.(?)" "p.(Arg984His)" "39" "0000881274" "00025673" "70" "3427" "0" "3427" "0" "c.3427A>C" "r.(?)" "p.(Lys1143Gln)" "" "0000882646" "00025673" "50" "4594" "0" "4594" "0" "c.4594C>G" "r.(?)" "p.(Pro1532Ala)" "" "0000882647" "00025673" "30" "4587" "0" "4587" "0" "c.4587T>C" "r.(?)" "p.(Leu1529=)" "" "0000882648" "00025673" "50" "4574" "0" "4574" "0" "c.4574G>A" "r.(?)" "p.(Gly1525Asp)" "" "0000882649" "00025673" "50" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Asp1428Asn)" "" "0000882650" "00025673" "50" "4031" "0" "4031" "0" "c.4031C>A" "r.(?)" "p.(Pro1344Gln)" "" "0000882651" "00025673" "50" "3892" "0" "3892" "0" "c.3892C>G" "r.(?)" "p.(Pro1298Ala)" "" "0000882652" "00025673" "50" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Pro1263Ser)" "" "0000882653" "00025673" "90" "3709" "-1" "3709" "-1" "c.3709-1G>A" "r.spl?" "p.?" "" "0000882654" "00025673" "50" "2942" "0" "2942" "0" "c.2942T>C" "r.(?)" "p.(Ile981Thr)" "" "0000882655" "00025673" "50" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Pro912Leu)" "" "0000882656" "00025673" "50" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Pro749Leu)" "" "0000882657" "00025673" "30" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Ser415Asn)" "" "0000882658" "00025673" "30" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "" "0000910723" "00025673" "90" "3655" "-1" "3655" "-1" "c.3655-1G>A" "r.spl?" "p.?" "" "0000910724" "00025673" "50" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Pro912Leu)" "" "0000910725" "00025673" "50" "2655" "0" "2655" "0" "c.2655G>A" "r.(?)" "p.(Thr885=)" "" "0000910726" "00025673" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Asp366Asn)" "" "0000910727" "00025673" "50" "897" "285" "897" "285" "c.897+285A>T" "r.(=)" "p.(=)" "" "0000910728" "00025673" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Gly218Arg)" "" "0000910729" "00025673" "10" "652" "-8" "652" "-6" "c.652-8_652-6dup" "r.(=)" "p.(=)" "" "0000910730" "00025673" "50" "545" "0" "545" "0" "c.545G>T" "r.(?)" "p.(Cys182Phe)" "" "0000918860" "00025673" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Asn49Ser)" "2" "0000918874" "00025673" "50" "5273" "0" "5273" "0" "c.5273C>T" "r.(?)" "p.(Ala1758Val)" "66" "0000922894" "00025673" "50" "4931" "0" "4931" "0" "c.4931G>A" "r.(?)" "p.(Gly1644Asp)" "" "0000922895" "00025673" "30" "3817" "-14" "3817" "-13" "c.3817-14_3817-13dup" "r.(=)" "p.(=)" "" "0000922896" "00025673" "90" "3816" "1" "3816" "1" "c.3816+1del" "r.spl?" "p.?" "" "0000922897" "00025673" "50" "3369" "0" "3369" "0" "c.3369G>A" "r.(?)" "p.(Gly1123=)" "" "0000922898" "00025673" "50" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Gly592=)" "" "0000922899" "00025673" "70" "898" "-1" "898" "-1" "c.898-1G>A" "r.spl?" "p.?" "" "0000922900" "00025673" "50" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "" "0000922901" "00025673" "30" "106" "6" "106" "6" "c.106+6A>G" "r.(=)" "p.(=)" "" "0000927961" "00025673" "30" "5083" "0" "5083" "0" "c.5083C>A" "r.(?)" "p.(Gln1695Lys)" "" "0000927962" "00025673" "50" "4985" "0" "4985" "0" "c.4985C>T" "r.(?)" "p.(Ser1662Leu)" "" "0000927963" "00025673" "30" "4416" "0" "4416" "0" "c.4416C>A" "r.(?)" "p.(Asp1472Glu)" "" "0000927964" "00025673" "30" "3929" "0" "3929" "0" "c.3929C>T" "r.(?)" "p.(Pro1310Leu)" "" "0000927965" "00025673" "70" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Pro884Ser)" "" "0000927966" "00025673" "50" "2366" "0" "2366" "0" "c.2366A>G" "r.(?)" "p.(Lys789Arg)" "" "0000927967" "00025673" "50" "442" "0" "442" "0" "c.442C>G" "r.(?)" "p.(Pro148Ala)" "" "0000927968" "00025673" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(=)" "" "0000944328" "00025673" "70" "5365" "0" "5365" "0" "c.5365G>T" "r.(?)" "p.(Gly1789Cys)" "" "0000944390" "00025673" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "0000946916" "00025673" "50" "4622" "0" "4622" "0" "c.4622A>G" "r.(?)" "p.(Glu1541Gly)" "" "0000946917" "00025673" "50" "4594" "0" "4594" "0" "c.4594C>G" "r.(?)" "p.(Pro1532Ala)" "" "0000946918" "00025673" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Gly1243=)" "" "0000946919" "00025673" "30" "3528" "0" "3528" "0" "c.3528G>A" "r.(?)" "p.(Gln1176=)" "" "0000946920" "00025673" "70" "2241" "5" "2241" "5" "c.2241+5G>T" "r.spl?" "p.?" "" "0000953843" "00025673" "50" "3703" "0" "3703" "0" "c.3703G>A" "r.(?)" "p.(Ala1235Thr)" "49" "0000953844" "00025673" "70" "1630" "-2" "1630" "-2" "c.1630-2delA" "r.spl" "p.?" "15i" "0000953855" "00025673" "50" "3816" "2" "3816" "2" "c.3816+2dup" "r.spl" "p.?" "51i" "0000953857" "00025673" "50" "2308" "0" "2316" "0" "c.2308_2316del" "r.(?)" "p.(Val770_Gly772del)" "29" "0000957507" "00025673" "70" "4087" "-2" "4087" "-2" "c.4087-2A>G" "r.spl" "p.?" "55i" "0000957508" "00025673" "70" "4087" "-2" "4087" "-2" "c.4087-2A>G" "r.spl" "p.?" "55i" "0000959352" "00025673" "50" "442" "0" "442" "0" "c.442C>G" "r.(?)" "p.(Pro148Ala)" "" "0000960349" "00025673" "30" "3270" "0" "3270" "0" "c.3270T>A" "r.(?)" "p.(Gly1090=)" "" "0000960350" "00025673" "30" "1630" "-215" "1630" "-215" "c.1630-215C>A" "r.(=)" "p.(=)" "" "0000960352" "00025673" "30" "780" "30" "780" "30" "c.780+30C>T" "r.(=)" "p.(=)" "" "0000960353" "00025673" "30" "652" "-6" "652" "-5" "c.652-6_652-5insTTC" "r.spl?" "p.?" "" "0000973139" "00025673" "50" "5117" "0" "5117" "0" "c.5117C>T" "r.(?)" "p.(Ala1706Val)" "" "0000973140" "00025673" "50" "4594" "0" "4594" "0" "c.4594C>G" "r.(?)" "p.(Pro1532Ala)" "" "0000973141" "00025673" "30" "4249" "-6" "4249" "-6" "c.4249-6C>T" "r.(=)" "p.(=)" "" "0000973142" "00025673" "50" "4060" "0" "4060" "0" "c.4060G>A" "r.(?)" "p.(Gly1354Ser)" "" "0000973143" "00025673" "90" "3978" "1" "3978" "1" "c.3978+1G>A" "r.spl?" "p.?" "" "0000973144" "00025673" "30" "3600" "5" "3600" "5" "c.3600+5G>C" "r.spl?" "p.?" "" "0000973145" "00025673" "30" "3073" "0" "3073" "0" "c.3073T>A" "r.(?)" "p.(Leu1025Ile)" "" "0000973146" "00025673" "50" "2421" "0" "2421" "0" "c.2421A>T" "r.(?)" "p.(Arg807Ser)" "" "0000973147" "00025673" "50" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Asp797Asn)" "" "0000973148" "00025673" "50" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Arg581His)" "" "0000973149" "00025673" "50" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Pro570Ser)" "" "0000973150" "00025673" "50" "1709" "0" "1709" "0" "c.1709del" "r.(?)" "p.(Pro570Leufs*63)" "" "0000973151" "00025673" "50" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476His)" "" "0000990054" "00025673" "50" "5414" "0" "5414" "0" "c.5414T>A" "r.(?)" "p.(Leu1805His)" "" "0000990055" "00025673" "50" "5132" "0" "5132" "0" "c.5132C>T" "r.(?)" "p.(Thr1711Ile)" "" "0000990056" "00025673" "50" "4805" "0" "4805" "0" "c.4805A>G" "r.(?)" "p.(Asn1602Ser)" "" "0000990057" "00025673" "30" "4789" "0" "4789" "0" "c.4789A>G" "r.(?)" "p.(Met1597Val)" "" "0000990058" "00025673" "30" "4661" "0" "4661" "0" "c.4661C>T" "r.(?)" "p.(Thr1554Met)" "" "0000990059" "00025673" "50" "3788" "0" "3788" "0" "c.3788C>T" "r.(?)" "p.(Pro1263Leu)" "" "0000990060" "00025673" "30" "3384" "18" "3384" "18" "c.3384+18G>A" "r.(=)" "p.(=)" "" "0000990061" "00025673" "50" "3312" "0" "3312" "0" "c.3312T>A" "r.(?)" "p.(Asp1104Glu)" "" "0000990062" "00025673" "50" "3256" "0" "3256" "0" "c.3256G>T" "r.(?)" "p.(Ala1086Ser)" "" "0000990063" "00025673" "30" "2921" "0" "2921" "0" "c.2921C>A" "r.(?)" "p.(Pro974Gln)" "" "0000990064" "00025673" "50" "2449" "0" "2449" "0" "c.2449G>C" "r.(?)" "p.(Gly817Arg)" "" "0000990065" "00025673" "50" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Pro732Ser)" "" "0000990066" "00025673" "50" "1899" "3" "1899" "3" "c.1899+3A>G" "r.spl?" "p.?" "" "0000990067" "00025673" "50" "1798" "0" "1798" "0" "c.1798C>G" "r.(?)" "p.(Arg600Gly)" "" "0000990068" "00025673" "50" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Pro531Leu)" "" "0000990069" "00025673" "50" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Glu513Lys)" "" "0000990070" "00025673" "30" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Pro331Leu)" "" "0000990071" "00025673" "50" "565" "0" "565" "0" "c.565C>A" "r.(?)" "p.(Pro189Thr)" "" "0000990072" "00025673" "50" "365" "0" "365" "0" "c.365A>C" "r.(?)" "p.(His122Pro)" "" "0001016409" "00025673" "50" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Lys387Arg)" "" "0001020263" "00025673" "30" "3811" "0" "3811" "0" "c.3811G>T" "r.(?)" "p.(Val1271Leu)" "" "0001024000" "00025673" "50" "5414" "0" "5414" "0" "c.5414T>A" "r.(?)" "p.(Leu1805His)" "" "0001024001" "00025673" "50" "4645" "0" "4645" "0" "c.4645T>G" "r.(?)" "p.(Leu1549Val)" "" "0001024002" "00025673" "30" "4303" "-13" "4303" "-13" "c.4303-13del" "r.(=)" "p.(=)" "" "0001024003" "00025673" "50" "4222" "0" "4222" "0" "c.4222G>A" "r.(?)" "p.(Gly1408Ser)" "" "0001024004" "00025673" "50" "3926" "0" "3926" "0" "c.3926G>A" "r.(?)" "p.(Gly1309Asp)" "" "0001024005" "00025673" "10" "3817" "-14" "3817" "-13" "c.3817-14_3817-13dup" "r.(=)" "p.(=)" "" "0001029387" "00025673" "70" "4591" "0" "4591" "0" "c.4591G>A" "r.(?)" "p.(Gly1531Arg)" "62" "0001030994" "00025673" "50" "5365" "0" "5365" "0" "c.5365G>A" "r.(?)" "p.(Gly1789Ser)" "" "0001030995" "00025673" "50" "4814" "0" "4814" "0" "c.4814G>A" "r.(?)" "p.(Arg1605Gln)" "" "0001030996" "00025673" "50" "4627" "0" "4627" "0" "c.4627A>C" "r.(?)" "p.(Ile1543Leu)" "" "0001030997" "00025673" "30" "4057" "0" "4057" "0" "c.4057G>A" "r.(?)" "p.(Ala1353Thr)" "" "0001030998" "00025673" "50" "3229" "0" "3229" "0" "c.3229C>A" "r.(?)" "p.(Pro1077Thr)" "" "0001030999" "00025673" "50" "3125" "0" "3125" "0" "c.3125G>T" "r.(?)" "p.(Gly1042Val)" "" "0001031000" "00025673" "50" "3124" "0" "3124" "0" "c.3124G>C" "r.(?)" "p.(Gly1042Arg)" "" "0001031001" "00025673" "50" "2758" "0" "2758" "0" "c.2758C>T" "r.(?)" "p.(Pro920Ser)" "" "0001031002" "00025673" "30" "2754" "9" "2754" "9" "c.2754+9G>C" "r.(=)" "p.(=)" "" "0001031003" "00025673" "50" "2241" "6" "2241" "6" "c.2241+6T>C" "r.(=)" "p.(=)" "" "0001031004" "00025673" "30" "2115" "0" "2115" "0" "c.2115A>G" "r.(?)" "p.(=)" "" "0001031005" "00025673" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524Gln)" "" "0001031006" "00025673" "50" "1488" "3" "1488" "3" "c.1488+3A>G" "r.spl?" "p.?" "" "0001031007" "00025673" "50" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Phe401Leu)" "" "0001031008" "00025673" "50" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0001031009" "00025673" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" "" "0001031010" "00025673" "50" "419" "0" "419" "0" "c.419A>G" "r.(?)" "p.(Glu140Gly)" "" "0001045584" "00025673" "90" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Gly1471Asp)" "" "0001045585" "00025673" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Ala160Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 169 "{{screeningid}}" "{{variantid}}" "0000002900" "0000021266" "0000002912" "0000021285" "0000050492" "0000079472" "0000051488" "0000080541" "0000080141" "0000129051" "0000100472" "0000735157" "0000100490" "0000735179" "0000104474" "0000169302" "0000132912" "0000222095" "0000240097" "0000484089" "0000240097" "0000484090" "0000282996" "0000638738" "0000282997" "0000638739" "0000282998" "0000638740" "0000282999" "0000638741" "0000283000" "0000638742" "0000283001" "0000638743" "0000283002" "0000638744" "0000283003" "0000638745" "0000283004" "0000638746" "0000283005" "0000638747" "0000283006" "0000638748" "0000283007" "0000638749" "0000283008" "0000638750" "0000283009" "0000638751" "0000283010" "0000638752" "0000283011" "0000638753" "0000283012" "0000638754" "0000283013" "0000638755" "0000283014" "0000638756" "0000283015" "0000638757" "0000283016" "0000638758" "0000283017" "0000638759" "0000283018" "0000638760" "0000283019" "0000638761" "0000283020" "0000638762" "0000283021" "0000638763" "0000283022" "0000638764" "0000283023" "0000638765" "0000283024" "0000638766" "0000283025" "0000638767" "0000283026" "0000638768" "0000283027" "0000638769" "0000283028" "0000638770" "0000283029" "0000638771" "0000283030" "0000638772" "0000283031" "0000638773" "0000283032" "0000638774" "0000283033" "0000638775" "0000283034" "0000638776" "0000283035" "0000638777" "0000283036" "0000638778" "0000283037" "0000638779" "0000283038" "0000638780" "0000283039" "0000638781" "0000283040" "0000638782" "0000283041" "0000638783" "0000283042" "0000638784" "0000283043" "0000638785" "0000283044" "0000638786" "0000283045" "0000638787" "0000283046" "0000638788" "0000283047" "0000638789" "0000283048" "0000638790" "0000283049" "0000638791" "0000283050" "0000638792" "0000283051" "0000638793" "0000283052" "0000638794" "0000283053" "0000638795" "0000283054" "0000638796" "0000283055" "0000638797" "0000283056" "0000638798" "0000283057" "0000638799" "0000283058" "0000638800" "0000283059" "0000638801" "0000283060" "0000638802" "0000283061" "0000638803" "0000290631" "0000647320" "0000290632" "0000647321" "0000305261" "0000668949" "0000307912" "0000674733" "0000310955" "0000686099" "0000310956" "0000686100" "0000310983" "0000686131" "0000310984" "0000686132" "0000312166" "0000687717" "0000312166" "0000687718" "0000312168" "0000687720" "0000312172" "0000687724" "0000312174" "0000687726" "0000321339" "0000704168" "0000325853" "0000709008" "0000329588" "0000713936" "0000329589" "0000713937" "0000329590" "0000713938" "0000329591" "0000713939" "0000329592" "0000713940" "0000329593" "0000713941" "0000329594" "0000713942" "0000332581" "0000729863" "0000332582" "0000729864" "0000332583" "0000729865" "0000333749" "0000731564" "0000335683" "0000734378" "0000360216" "0000760091" "0000360511" "0000760532" "0000364568" "0000765433" "0000364569" "0000765434" "0000364570" "0000765435" "0000364571" "0000765436" "0000364572" "0000765437" "0000373860" "0000784656" "0000373907" "0000784644" "0000373941" "0000784616" "0000376614" "0000788342" "0000380678" "0000793830" "0000380679" "0000793831" "0000380680" "0000793832" "0000380681" "0000793833" "0000380682" "0000793834" "0000380683" "0000793835" "0000380684" "0000793836" "0000380945" "0000794187" "0000384919" "0000811754" "0000385458" "0000812513" "0000385707" "0000812817" "0000385707" "0000812818" "0000385718" "0000812830" "0000386688" "0000814368" "0000393499" "0000824261" "0000395620" "0000827011" "0000398854" "0000831121" "0000418294" "0000878050" "0000418295" "0000878051" "0000418297" "0000878053" "0000418298" "0000878054" "0000418303" "0000878059" "0000418305" "0000878061" "0000418309" "0000878065" "0000418312" "0000878068" "0000418315" "0000878071" "0000418317" "0000878073" "0000418326" "0000878082" "0000418345" "0000878101" "0000418347" "0000878103" "0000418351" "0000878203" "0000418380" "0000878136" "0000418384" "0000878140" "0000418385" "0000878141" "0000418389" "0000878145" "0000418401" "0000878157" "0000418403" "0000878159" "0000418409" "0000878165" "0000418427" "0000878183" "0000418431" "0000878187" "0000420915" "0000881274" "0000433225" "0000918860" "0000433239" "0000918874" "0000442969" "0000944328" "0000443031" "0000944390" "0000445684" "0000953843" "0000445685" "0000953844" "0000445696" "0000953855" "0000445698" "0000953857" "0000448127" "0000957507" "0000448128" "0000957508" "0000449147" "0000959352" "0000458840" "0001016409" "0000465695" "0001029387"