### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL2A1) # 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}}" "COL2A1" "collagen, type II, alpha 1" "12" "q12-q13.2" "unknown" "NG_008072.1" "UD_132118367136" "" "" "" "1" "2200" "1280" "120140" "1" "1" "0" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/COL2A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2014-11-16 16:01:50" "00006" "2025-09-23 14:50:41" ## 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}}" "00005457" "COL2A1" "transcript variant 1" "002" "NM_001844.4" "" "NP_001835.3" "" "" "" "-181" "4906" "4464" "48398285" "48366748" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 38 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00686" "STL1" "Stickler syndrome, type I (STL-1)" "AD" "108300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00687" "Kniest" "dysplasia, Kniest" "AD" "156550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00688" "ACG2" "achondrogenesis, type II (hypochondrogenesis, ACG-2)" "AD" "200610" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00689" "SEDC" "dysplasia, spondyloepiphyseal, congenita (SEDC)" "AD" "183900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00690" "SEMDSTWK" "dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)" "AD" "184250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00691" "EDMMD" "dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD)" "AD" "132450" "" "" "" "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" "00693" "OSCDP" "osteoarthritis, with mild chondrodysplasia (OSCDP)" "AD" "604864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00694" "PLSDT" "dysplasia, skeletal, platyspondylic, Torrance type (PLSDT)" "AD" "151210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00695" "OSMEDB" "Otospondylomegaepiphyseal dysplasia, autosomal recessive" "AR" "215150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00696" "ANFH1" "necrosis, avascular, femoral head (ANFH)" "AD" "608805" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00697" "LCPD" "Legg-Calve-Perthes disease (LCPD)" "AD" "150600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00698" "-" "Stickler sydrome, type I, nonsyndromic ocular" "AD" "609508" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00699" "-" "dysplasia, Czech" "AD" "609162" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00970" "SEDN" "dysplasia, spondyloperipheral, Namaqualand type (SEDN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-02 20:22:18" "00971" "-" "vitreoretinopathy, with phalangeal epiphyseal dysplasia" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-05-08 12:32:22" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04152" "SPDA" "spondyloarthropathy (SPDA, ankylosing spondylitis)" "" "" "" "associated with" "" "00006" "2014-11-16 17:04:26" "00006" "2018-09-07 14:27:27" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "04256" "-" "dysspondylo-enchondromatose" "" "" "" "" "" "00006" "2015-05-08 11:55:56" "" "" "04257" "EDM" "dysplasia, epiphyseal, multiple (EDM)" "" "" "" "" "" "00006" "2015-05-08 12:04:11" "" "" "04258" "-" "osteoarthritis" "" "" "" "" "" "00006" "2015-05-08 12:09:48" "" "" "04259" "-" "Scheuermann disease" "" "" "" "" "" "00006" "2015-05-08 12:17:23" "" "" "04260" "-" "dysplasia, spondyloepimetaphyseal, Algerian type" "" "184253" "" "" "" "00006" "2015-05-08 12:20:50" "" "" "04261" "SEDT" "dysplasia, spondyloepiphyseal, tarda (SEDT)" "" "" "" "" "" "00006" "2015-05-08 12:27:03" "" "" "04658" "LWD" "dyschondrosteosis, Leri-Weill (LWD)" "" "127300" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2015-09-25 17:13:18" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05479" "ACG" "achondrogenesis (ACG)" "" "" "" "" "" "00006" "2018-10-22 13:52:53" "00006" "2018-10-22 13:53:57" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06164" "SEDSTN" "Spondyloepiphyseal dysplasia, Stanescu type" "AD" "616583" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{geneid}}" "{{diseaseid}}" "COL2A1" "00139" "COL2A1" "00686" "COL2A1" "00687" "COL2A1" "00688" "COL2A1" "00689" "COL2A1" "00690" "COL2A1" "00691" "COL2A1" "00692" "COL2A1" "00693" "COL2A1" "00694" "COL2A1" "00695" "COL2A1" "00696" "COL2A1" "00697" "COL2A1" "00698" "COL2A1" "00699" "COL2A1" "00970" "COL2A1" "00971" "COL2A1" "04152" "COL2A1" "04256" "COL2A1" "04261" "COL2A1" "05479" "COL2A1" "06164" ## Individuals ## Do not remove or alter this header ## ## Count = 1020 "{{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}}" "00024278" "" "" "" "4" "" "00006" "" "2-generation family, 4-affecteds (3F, M)" "" "" "United States" "" "0" "" "" "" "" "00024279" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024280" "" "" "" "1" "" "00006" "" "unaffected carrier mother patient 2572591-Pat" "" "" "United States" "" "0" "" "" "" "" "00024281" "" "" "" "8" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024282" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024283" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024284" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024285" "" "" "" "1" "" "00006" "{PMID:Ahmad 1991:1677770}" "" "" "" "" "" "0" "" "" "" "" "00024286" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024287" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024288" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024289" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024290" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024291" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024292" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024293" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024294" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024295" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024296" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024297" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024298" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024299" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024300" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024301" "" "" "" "2" "" "00006" "" "affected father and daugther" "" "" "Germany" "" "0" "" "" "" "" "00024302" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024303" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024304" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024305" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024306" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024307" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024308" "" "" "" "4" "" "00818" "" "" "M" "no" "Finland" "" "0" "" "" "" "" "00024309" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024310" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024311" "" "" "" "3" "" "00006" "{PMID:Ahmad 1993:8434604}" "mother of patient IV-1 and IV-5" "F" "" "" "" "0" "" "" "" "" "00024312" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024313" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024314" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024315" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024316" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024317" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024318" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024319" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024320" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024321" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024322" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024323" "" "" "" "4" "" "00006" "{PMID:Ballo 1998:9800905}" "" "" "" "" "" "0" "" "" "" "" "00024324" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024325" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024326" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024327" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024328" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024329" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024330" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024331" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024332" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024333" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024334" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024335" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024336" "" "" "" "2" "" "00818" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024337" "" "" "" "8" "" "00818" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024338" "" "" "" "7" "" "00818" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024339" "" "" "" "9" "" "00818" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024340" "" "" "" "3" "" "00818" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024341" "" "" "" "3" "" "00818" "" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024342" "" "" "" "2" "" "00818" "" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024343" "" "" "" "1" "" "00006" "{PMID:Mortier 2000:10745044}" "" "F" "" "United States" "<00y00m01d" "0" "" "" "" "" "00024344" "" "" "" "1" "" "00006" "{PMID:Mortier 2000:10745044}" "" "F" "" "United States" "00y00m02d" "0" "" "" "" "" "00024345" "" "" "" "1" "" "00006" "{PMID:Mortier 2000:10745044}" "" "F" "" "United States" "01y01m" "0" "" "" "" "" "00024346" "" "" "" "1" "" "00006" "{PMID:Mortier 2000:10745044}" "" "M" "" "United States" "00y13m" "0" "" "" "" "" "00024347" "" "" "" "1" "" "00006" "{PMID:Mortier 2000:10745044}" "" "F" "" "United States" "00y00m04d" "0" "" "" "" "" "00024348" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024349" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024350" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024351" "" "" "" "1" "" "00818" "" "" "M" "?" "" "<0d" "0" "" "" "" "" "00024352" "" "" "" "1" "" "00818" "" "" "M" "?" "" "<0d" "0" "" "" "" "" "00024353" "" "" "" "1" "" "00818" "" "" "M" "?" "" "<0d" "0" "" "" "" "" "00024354" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024355" "" "" "" "1" "" "00818" "" "" "F" "no" "" "<0d" "0" "" "" "" "" "00024356" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024357" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024358" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024359" "" "" "" "1" "" "00818" "" "" "F" "?" "" "<0d" "0" "" "" "" "" "00024360" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024361" "" "" "" "1" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024362" "" "" "" "9" "" "00818" "" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024363" "" "" "" "1" "" "00006" "" "" "F" "" "United States" "" "0" "" "" "" "" "00024364" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024365" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024366" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024367" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024368" "" "" "" "11" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024369" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024370" "" "" "" "4" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024371" "" "" "" "1" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024372" "" "" "" "8" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024373" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024374" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024375" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024376" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024377" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024378" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024379" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024380" "" "" "" "1" "" "00818" "" "" "F" "no" "" "" "0" "" "" "" "" "00024381" "" "" "" "1" "" "00818" "" "" "M" "no" "" "" "0" "" "" "" "" "00024382" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024383" "" "" "" "1" "" "00818" "" "" "F" "no" "" "0y" "0" "" "" "" "" "00024384" "" "" "" "1" "" "00818" "" "the first child of the family had multiple congenital abnormalities" "?" "no" "" "<0d" "0" "" "" "" "" "00024385" "" "" "" "2" "" "00818" "" "" "M" "?" "" "" "0" "" "" "" "" "00024386" "" "" "" "1" "" "00818" "" "" "?" "?" "" "<0d" "0" "" "" "" "" "00024387" "" "" "" "1" "" "00818" "" "" "?" "no" "" "0d" "0" "" "" "" "" "00024388" "" "" "" "2" "" "00818" "" "" "?" "?" "" "22d" "0" "" "" "" "" "00024389" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024390" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024391" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024392" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024393" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024394" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024395" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024396" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024397" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024398" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024399" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024400" "" "" "" "3" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024401" "" "" "" "3" "" "00006" "" "affected mother and 2 sons" "" "" "" "" "0" "" "" "" "" "00024402" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024403" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024404" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024405" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024406" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024407" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024408" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024409" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024410" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024411" "" "" "" "3" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024412" "" "" "" "5" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024413" "" "" "" "3" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024414" "" "" "" "2" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024415" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024416" "" "" "" "1" "" "00006" "{PMID:Hoornaert 2006:16155195}" "" "M" "" "" "" "0" "" "" "" "" "00024417" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024418" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024419" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024420" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024421" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024422" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024423" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024424" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024425" "" "" "" "2" "" "00006" "" "family, affected father and son" "M" "" "United States" "" "0" "" "" "" "" "00024426" "" "" "" "2" "" "00818" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024427" "" "" "" "2" "" "00818" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024428" "" "" "" "2" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024429" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024430" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024431" "" "" "" "2" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024432" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024433" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024434" "" "" "" "3" "" "00818" "{PMID:Richards 2007:17437277}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024435" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024436" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024437" "" "" "" "5" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024438" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024439" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024440" "" "" "" "4" "" "00818" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024441" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024442" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024443" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024444" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024445" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024446" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024447" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024448" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024449" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024450" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024451" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024452" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024453" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024454" "" "" "" "4" "" "00818" "{PMID:Richards 2007:17437277}" "" "M" "" "" "" "0" "" "" "" "" "00024455" "" "" "" "2" "" "00818" "{PMID17437277:Richards 2007}" "" "M" "" "" "" "0" "" "" "" "" "00024456" "" "" "" "7" "" "00818" "{PMID:Richards 2007:17437277}" "" "" "" "" "" "0" "" "" "" "" "00024457" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024458" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024459" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024460" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024461" "" "" "" "1" "" "00006" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00024462" "" "" "" "2" "" "00006" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024463" "" "" "" "2" "" "00006" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024464" "" "" "" "4" "" "00006" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024465" "" "" "" "5" "" "00006" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024466" "" "" "" "20" "" "00006" "{PMID:Zechi-Ceide 2008:18276201}" "" "?" "?" "Brazil" "" "0" "" "" "" "" "00024468" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024469" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024470" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024471" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024472" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024473" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024474" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024475" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024476" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024477" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024478" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024479" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024480" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024481" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024482" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024483" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024484" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024485" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024486" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024487" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024488" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024489" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024490" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024491" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024492" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024493" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024494" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024495" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024496" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024497" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024498" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024499" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024500" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024501" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024502" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024503" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024504" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024505" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024506" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024507" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024508" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024509" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024510" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024511" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024512" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024513" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024514" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024515" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024516" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024517" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024518" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024519" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024520" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024521" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024522" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024523" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024524" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024525" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024526" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024527" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024528" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024529" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024530" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024531" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024532" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024533" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024534" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024535" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024536" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024537" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024538" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024539" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024540" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024541" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024542" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024543" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024544" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024545" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024546" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024547" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024548" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024549" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024550" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024551" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024552" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024553" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024555" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024556" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024558" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024559" "" "" "" "1" "" "01489" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024560" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024561" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024562" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024563" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024564" "" "" "" "1" "" "00818" "" "" "M" "" "" "" "0" "" "" "" "" "00024565" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024566" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024567" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024568" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024569" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024570" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024571" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024572" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024573" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024574" "" "" "" "1" "" "00818" "{PMID:Ahmad 1993:8434604}" "" "M" "" "" "" "0" "" "" "" "" "00024575" "" "" "" "1" "" "00818" "{PMID:Ahmad 1993:8434604}" "" "M" "" "" "" "0" "" "" "" "" "00024576" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024577" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024578" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024579" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024580" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024581" "" "" "" "1" "" "00818" "" "" "" "" "" "" "0" "" "" "" "" "00024582" "" "" "" "2" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024583" "" "" "" "1" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024584" "" "" "" "5" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024585" "" "" "" "3" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024586" "" "" "" "4" "" "00818" "{PMID:Liberfarb 2003:12544472}" "" "" "?" "(United States)" "" "0" "" "" "" "" "00024587" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024588" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024589" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024590" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024591" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024592" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024593" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024594" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024595" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024596" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024597" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024598" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024599" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024600" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024601" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024602" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024603" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024604" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024605" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024606" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024607" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024608" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024609" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024610" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024611" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024612" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024613" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024614" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024615" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024616" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024617" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024618" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024619" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024620" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024621" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024622" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024623" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024624" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024625" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024626" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024627" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024628" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024629" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024630" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024631" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024632" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024633" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024634" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024635" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024636" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024637" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024638" "" "" "" "5" "" "00818" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024639" "" "" "" "5" "" "00818" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024640" "" "" "" "5" "" "00818" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024641" "" "" "" "5" "" "00818" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024642" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024643" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024644" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024645" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024646" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2010:20179744}" "" "" "" "" "" "0" "" "" "" "" "00024647" "" "" "" "6" "" "00818" "" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024648" "" "" "" "1" "" "00818" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024649" "" "" "" "1" "" "00818" "" "" "M" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024650" "" "" "" "3" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024651" "" "" "" "5" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024652" "" "" "" "2" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024653" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024654" "" "" "" "1" "" "00818" "" "" "F" "?" "" "" "0" "" "" "" "" "00024655" "" "" "" "1" "" "00818" "" "" "F" "" "" "" "0" "" "" "" "" "00024656" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024657" "" "" "" "1" "" "00818" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00024658" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024659" "" "" "" "5" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024660" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024661" "" "" "" "1" "" "00818" "" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024662" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024663" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024664" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024665" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024666" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024667" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024668" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024669" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024670" "" "" "" "8" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024671" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024672" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024673" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024674" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024675" "" "" "" "7" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024676" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024677" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024678" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024679" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024680" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024681" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024682" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024683" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024684" "" "" "" "6" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024685" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024686" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024687" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024688" "" "" "" "11" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024689" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024690" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024691" "" "" "" "5" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024692" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024693" "" "" "" "2" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024694" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024695" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024696" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024697" "" "" "" "4" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024698" "" "" "" "3" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024699" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024700" "" "" "" "1" "" "00818" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024701" "" "" "" "1" "" "00818" "" "" "M" "?" "" "" "0" "" "" "" "" "00024702" "" "" "" "2" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024703" "" "" "" "4" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024704" "" "" "" "4" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024705" "" "" "" "2" "" "00818" "{PMID:Richards 2005:15671297}, {PMID:Richards 2006:16752401}" "" "F" "?" "" "" "0" "" "" "" "" "00024706" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024707" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024708" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "F" "?" "" "" "0" "" "" "" "" "00024709" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024710" "" "" "" "3" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "F" "?" "" "" "0" "" "" "" "" "00024711" "" "" "" "1" "" "00818" "{PMID:Hoornaert 2006:16155195}" "" "M" "?" "" "" "0" "" "" "" "" "00024712" "" "" "" "1" "" "00818" "" "" "F" "no" "Japan" "" "0" "" "" "" "" "00024713" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024714" "" "" "" "20" "" "00818" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00024715" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024716" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024717" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024718" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024719" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024720" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024721" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024722" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024723" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024724" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024725" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024726" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024727" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024728" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024729" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024730" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024731" "" "" "" "20" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024732" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024733" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024734" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024735" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024736" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024737" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024738" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024739" "" "" "" "8" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024740" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024741" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024742" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024743" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024744" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024745" "" "" "" "6" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024746" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024747" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024748" "" "" "" "1" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024749" "" "" "" "1" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024750" "" "" "" "4" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024751" "" "" "" "4" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024752" "" "" "" "4" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024753" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024754" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024755" "" "" "" "3" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024756" "" "" "" "3" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024757" "" "" "" "3" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024758" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024759" "" "" "" "2" "" "00818" "" "" "" "?" "Brazil" "" "0" "" "" "" "" "00024760" "" "" "" "2" "" "00818" "" "" "F" "yes" "China" "" "0" "" "" "" "" "00024761" "" "" "" "2" "" "00818" "" "Father of F2:V-1" "M" "yes" "China" "" "0" "" "" "" "" "00024762" "" "" "" "3" "" "00818" "" "" "M" "no" "China" "" "0" "" "" "" "" "00024763" "" "" "" "3" "" "00818" "" "" "M" "no" "China" "" "0" "" "" "" "" "00024764" "" "" "" "3" "" "00818" "" "" "M" "no" "China" "" "0" "" "" "" "" "00024765" "" "" "" "2" "" "00818" "" "" "M" "no" "China" "" "0" "" "" "" "" "00024766" "" "" "" "2" "" "00818" "" "" "F" "no" "China" "" "0" "" "" "" "" "00024767" "" "" "" "2" "" "00818" "" "" "F" "no" "China" "" "0" "" "" "" "" "00024768" "" "" "" "2" "" "00818" "" "" "M" "no" "China" "" "0" "" "" "" "" "00024769" "" "" "" "1" "" "00818" "" "" "" "?" "United States" "" "0" "" "" "" "" "00024770" "" "" "" "1" "" "00818" "" "" "M" "?" "China" "" "0" "" "" "" "" "00024771" "" "" "" "1" "" "00818" "" "" "F" "?" "China" "" "0" "" "" "" "" "00024772" "" "" "" "1" "" "00818" "" "" "F" "?" "China" "" "0" "" "" "" "" "00024773" "" "" "" "1" "" "00818" "" "fetus" "M" "no" "France;Germany;Poland" "" "0" "" "" "" "" "00024774" "" "" "" "1" "" "00818" "" "" "?" "no" "(United Kingdom (Great Britain))" "0d" "0" "" "" "" "" "00024775" "" "" "" "1" "" "00818" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024776" "" "" "" "1" "" "00818" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024777" "" "" "" "1" "" "00818" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024778" "" "" "" "1" "" "00818" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00024779" "" "" "" "8" "" "00818" "" "5-generation family, 9 affecteds (3F, 6M)" "F" "no" "(United States)" "" "0" "" "" "" "" "00024780" "" "" "" "1" "" "00818" "" "5-generation family, 9 affecteds (3F, 6M)" "M" "no" "(United States)" "" "0" "" "" "" "" "00024781" "" "" "" "1" "" "00818" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00024782" "" "" "" "2" "" "00818" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00024783" "" "" "" "2" "" "00818" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00024784" "" "" "" "1" "" "00818" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00024785" "" "" "" "1" "" "00818" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00024786" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024787" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024788" "" "" "" "6" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024789" "" "" "" "6" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024790" "" "" "" "6" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024791" "" "" "" "6" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024792" "" "" "" "6" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024793" "" "" "" "6" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024794" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024795" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024798" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024799" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024800" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024801" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024802" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024803" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024804" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024805" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024806" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024807" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024808" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024809" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024810" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024811" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024812" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024813" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024814" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024815" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024816" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024817" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024818" "" "" "" "3" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024819" "" "" "" "3" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024820" "" "" "" "3" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024821" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024822" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024823" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024824" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024825" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024826" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024827" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024828" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024829" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024830" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024831" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024832" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024833" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024834" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024835" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024836" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024837" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024838" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024839" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024840" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024841" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024842" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024843" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024844" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024845" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024846" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024847" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024848" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024849" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024850" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024851" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024852" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024853" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024854" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024855" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024856" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024857" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024858" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024859" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024860" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024861" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024862" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024863" "" "" "" "1" "" "00818" "{PMID:Barat-Houari:26626311}" "" "F" "?" "(France)" "" "0" "" "" "" "" "00024864" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024865" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024866" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024867" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024868" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024869" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024870" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024871" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024872" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024873" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024874" "" "" "" "2" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024875" "" "" "" "2" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024876" "" "" "" "4" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024877" "" "" "" "4" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024878" "" "" "" "4" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024879" "" "" "" "4" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024880" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024881" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024882" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024883" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024884" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024885" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024886" "" "" "" "5" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024887" "" "" "" "5" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024888" "" "" "" "5" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024889" "" "" "" "5" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024890" "" "" "" "5" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024891" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024892" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024893" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024894" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024895" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024896" "" "" "" "1" "" "00818" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00024897" "" "" "" "1" "" "00818" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00024898" "" "" "" "1" "" "00006" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00024899" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024900" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024901" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024902" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024903" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024904" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024905" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024906" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024907" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024908" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024909" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024910" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024911" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024912" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024913" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024914" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00024915" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024916" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024917" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00024918" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024919" "" "" "" "3" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00024920" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00035295" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035296" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035297" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035298" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035299" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035300" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035301" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035302" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035303" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035304" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035305" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035306" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035307" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035308" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035309" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035310" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035311" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035312" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035313" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035314" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035315" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037592" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00038374" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00038402" "" "" "" "1" "" "00818" "{PMID:Ang 2007:17318849}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00038403" "" "" "" "2" "" "00818" "{PMID:Bedeschi 2011:21356074}" "" "F" "no" "(Italy)" "" "0" "" "" "" "" "00038404" "" "" "" "2" "" "00818" "{PMID:Bedeschi 2011:21356074}" "" "M" "no" "(Italy)" "" "0" "" "" "" "" "00038405" "" "" "" "2" "" "00818" "{PMID:Bleasel 1995:7738948}" "" "M" "?" "(United States)" "" "0" "" "" "" "" "00038406" "" "" "" "2" "" "00818" "{PMID:Bleasel 1996:8877930}" "" "M" "?" "(United States)" "" "0" "" "" "" "" "00038407" "" "" "" "8" "" "00818" "{PMID:Brown 1995:7711727}" "" "?" "?" "" "" "0" "" "" "" "" "00038408" "" "" "" "8" "" "00818" "{PMID:Brown 1995:7711727}" "" "?" "?" "" "" "0" "" "" "" "" "00038409" "" "" "" "10" "" "00818" "{PMID:Carlson 2006:16755660}" "" "?" "?" "(United States)" "" "0" "" "" "Micronesian" "" "00038410" "" "" "" "1" "" "00818" "{PMID:Chen 1996:8893763}" "" "?" "?" "" "" "0" "" "" "" "" "00038411" "" "" "" "2" "" "00818" "{PMID:Desir 2012:22495950}" "" "F" "?" "(Belgium)" "" "0" "" "" "" "" "00038412" "" "" "" "2" "" "00818" "{PMID:Desir 2012:22495950}" "" "F" "?" "(Belgium)" "" "0" "" "" "" "" "00038413" "" "" "" "1" "" "00818" "{PMID:Jackson 2012:21922596}" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00038414" "" "" "" "1" "" "00818" "{PMID:Jackson 2012:21922596}" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00038415" "" "" "" "1" "" "00818" "{PMID:Kaissi 2013:24013370}" "" "F" "?" "(Germany)" "" "0" "" "" "" "" "00038416" "" "" "" "4" "" "00818" "{PMID:Kannu 2010:20131279}" "" "M" "no" "(Australia)" "" "0" "" "" "Australia" "" "00038417" "" "" "" "3" "" "00818" "{PMID:Kannu 2010:20131279}" "" "F" "no" "(Australia)" "" "0" "" "" "Australia" "" "00038418" "" "" "" "1" "" "00818" "{PMID:Kannu 2011:21442341}" "" "M" "?" "(Canada)" "" "0" "" "" "" "" "00038419" "" "" "" "1" "" "00818" "{PMID:Kannu 2011:21442341}" "" "F" "?" "(Canada)" "" "0" "" "" "" "" "00038420" "" "" "" "1" "" "00818" "{PMID:Kannu 2011:21671384}" "" "M" "?" "(Australia)" "" "0" "" "" "" "" "00038421" "" "" "" "1" "" "00818" "{PMID:Kishiya 2014:25124518}" "" "F" "?" "Japan" "" "0" "" "" "" "" "00038422" "" "" "" "3" "" "00818" "{PMID:Li 2014:23932928}" "" "F" "?" "Japan" "" "0" "" "" "Japan" "" "00038423" "" "" "" "6" "" "00818" "{PMID:Li 2014:24949742}" "" "F" "?" "China" "" "0" "" "" "China" "" "00038424" "" "" "" "2" "" "00818" "{PMID:Löppönen 2004:15593085}" "" "F" "?" "(Finland)" "" "0" "" "" "" "" "00038425" "" "" "" "3" "" "00818" "{PMID:Mark 2011:21204228}" "" "M" "?" "(United States)" "" "0" "" "" "" "" "00038426" "" "" "" "8" "" "00818" "{PMID:Matsubayashi 2013:23653587}" "" "M" "?" "" "" "0" "" "" "" "" "00038427" "" "" "" "1" "" "00818" "{PMID:Meredith 2007:17347327}" "" "M" "?" "" "" "0" "" "" "" "" "00038428" "" "" "" "1" "" "00818" "{PMID:Meredith 2007:17347327}" "" "M" "?" "" "" "0" "" "" "" "" "00038429" "" "" "" "1" "" "00818" "{PMID:Meredith 2007:17347327}" "" "M" "?" "" "" "0" "" "" "" "" "00038430" "" "" "" "1" "" "00818" "{PMID:Meredith 2007:17347327}" "" "M" "?" "" "" "0" "" "" "" "" "00038431" "" "" "" "7" "" "00818" "{PMID:Miyamoto 2007:17394019}" "" "F" "?" "(Japan)" "" "0" "" "" "" "" "00038432" "" "" "" "1" "" "00818" "{PMID:Mortier 2000:10745044}" "" "M" "?" "(United States)" "1d" "0" "" "" "" "" "00038433" "" "" "" "1" "" "00818" "{PMID:Mortier 2000:10745044}" "" "F" "?" "(United States)" "2d" "0" "" "" "" "" "00038434" "" "" "" "1" "" "00818" "{PMID:Nakane 2011:22570642}" "" "M" "?" "Japan" "" "0" "" "" "" "" "00038435" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038436" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038437" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038438" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038439" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038440" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038441" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038442" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038443" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038444" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038445" "" "" "" "2" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038446" "" "" "" "2" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038447" "" "" "" "2" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038448" "" "" "" "2" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038449" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038450" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038451" "" "" "" "3" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038452" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038453" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038454" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038455" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038456" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038457" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038458" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "M" "?" "" "" "0" "" "" "" "" "00038459" "" "" "" "1" "" "00818" "{PMID:Nishimura 2005:15895462}" "" "F" "?" "" "" "0" "" "" "" "" "00038460" "" "" "" "2" "" "00818" "{PMID:Okamoto 2012:22711552}" "germinal mosaicism" "M" "?" "(Japan)" "" "0" "" "" "" "" "00038461" "" "" "" "2" "" "00818" "{PMID:Okamoto 2012:22711552}" "germinal mosaicism" "M" "?" "(Japan)" "" "0" "" "" "" "" "00038462" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "?" "?" "" "" "0" "" "" "" "" "00038463" "" "" "" "1" "" "00818" "{PMID:Richards 2006:16752401}" "" "?" "?" "" "" "0" "" "" "" "" "00038464" "" "" "" "1" "" "00818" "{PMID:Richards 2008:18309338}" "" "" "" "" "" "0" "" "" "" "" "00038465" "" "" "" "1" "" "00818" "{PMID:Richards 2008:18309338}" "" "" "" "" "" "0" "" "" "" "" "00038466" "" "" "" "1" "" "00818" "{PMID:Richards 2008:18309338}" "" "" "" "" "" "0" "" "" "" "" "00038467" "" "" "" "1" "" "00818" "{PMID:Rukavina 2014:24681029}" "" "F" "no" "(Croatia (Hrvatska))" "" "0" "" "" "white" "" "00038468" "" "" "" "1" "" "00818" "{PMID:Segers 2012:22796116}" "" "M" "?" "" "" "0" "" "" "" "" "00038469" "" "" "" "3" "" "00818" "{PMID:Stevenson 2012:22522174}" "" "F" "?" "(United States)" "" "0" "" "" "" "" "00038470" "" "" "" "3" "" "00818" "{PMID:Stevenson 2012:22522174}" "" "M" "?" "(United States)" "" "0" "" "" "" "" "00038471" "" "" "" "3" "" "00818" "{PMID:Stevenson 2012:22522174}" "" "F" "?" "(United States)" "" "0" "" "" "" "" "00038472" "" "" "" "4" "" "00818" "{PMID:Suemori 2014:24164106}" "" "F" "?" "Japan" "" "0" "" "" "Japan" "" "00038473" "" "" "" "1" "" "00818" "{PMID:Wada 2011:21250907}" "" "F" "?" "" "" "0" "" "" "" "" "00038474" "" "" "" "1" "" "00818" "{PMID:Wang 2014:25050885}" "" "?" "?" "" "" "0" "" "" "" "" "00038475" "" "" "" "1" "" "00818" "{PMID:Wilkin 1999:10406661}" "" "?" "?" "" "" "0" "" "" "" "" "00038476" "" "" "" "1" "" "00818" "{PMID:Wilkin 1999:10406661}" "" "?" "?" "" "" "0" "" "" "" "" "00038477" "" "" "" "4" "" "00818" "{PMID:Williams 1995:7757086}" "" "F" "?" "(United States)" "" "0" "" "" "" "" "00038478" "" "" "" "5" "" "00818" "{PMID:Xu 2014:24736929}" "" "M" "?" "(China)" "" "0" "" "" "" "" "00038479" "" "" "" "1" "" "00818" "{PMID:Yaguchi 2011:21186996}" "" "?" "?" "" "" "0" "" "" "" "" "00038480" "" "" "" "1" "" "00818" "{PMID:Zhang 2013:23545312}" "" "F" "no" "China" "" "0" "" "" "" "" "00038481" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038482" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "M" "?" "(France)" "" "0" "" "" "" "" "00038483" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "M" "?" "(France)" "" "0" "" "" "" "" "00038484" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038485" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038486" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "M" "?" "(France)" "" "0" "" "" "" "" "00038487" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038488" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038489" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038490" "" "" "" "2" "" "01489" "Barat-Houari et al, pers.comm." "" "M" "?" "(France)" "" "0" "" "" "" "" "00038491" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038492" "" "" "" "2" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038493" "" "" "" "1" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038494" "" "" "" "2" "" "00818" "Barat-Houari et al, pers.comm." "" "M" "?" "(France)" "" "0" "" "" "" "" "00038495" "" "" "" "2" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038496" "" "" "" "2" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038497" "" "" "" "5" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038498" "" "" "" "5" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038499" "" "" "" "6" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038500" "" "" "" "5" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038501" "" "" "" "5" "" "00818" "Barat-Houari et al, pers.comm." "" "F" "?" "(France)" "" "0" "" "" "" "" "00038738" "" "" "" "2" "" "01305" "{PMID:Jurgens 2015:26183434}" "3-generation family, affected mother/daughter; mother" "F" "no" "United States" "" "0" "" "" "white" "Fam1PatII2" "00038794" "" "" "00038738" "1" "" "01305" "{PMID:Jurgens 2015:26183434}" "daughter of proband" "F" "no" "United States" "" "0" "" "" "white" "Fam1PatIII1" "00038795" "" "" "" "1" "" "01305" "{PMID:Jurgens 2015:26183434}" "male proband of Family 2" "M" "no" "Korea, South (Republic)" "" "0" "" "" "" "" "00050129" "" "" "" "1" "" "01396" "{DOI:Silveira 2015:10.1002/ajmg.a.36954}, {PMID:Silveira 2015:25735649}" "" "M" "no" "Brazil" ">09y" "0" "" "" "?" "" "00051537" "" "" "" "1" "" "01396" "{PMID:Silveira 2015:25735649}, {DOI:Silveira 2015:10.1002/ajmg.a.36954}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00051538" "" "" "" "1" "" "01396" "{PMID:Silveira 2015:25735649}, {DOI:Silveira 2015:10.1002/ajmg.a.36954}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00051540" "" "" "" "1" "" "01396" "" "" "?" "?" "Brazil" "00y01m" "0" "" "" "" "" "00060252" "" "" "" "1" "" "01489" "{PMID:Kawano 2015:25900302}, {DOI:Kawano 2015:10.1002/ajmg.a.37073}" "" "F" "no" "Japan;(Japan)" "" "0" "" "" "" "" "00080811" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00104010" "" "" "" "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-510A" "00111426" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "European" "" "00111431" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00111432" "" "" "" "2" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00111433" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00111434" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00111655" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00111679" "" "" "" "1" "" "01489" "" "" "F" "no" "(France)" "" "0" "" "" "" "" "00111680" "" "" "" "1" "" "01489" "" "" "F" "no" "(France)" "" "0" "MTP at 18WG" "" "" "" "00111683" "" "" "" "1" "" "01489" "" "" "F" "no" "(France)" "" "0" "" "" "" "" "00111684" "" "" "" "1" "" "01489" "" "" "M" "no" "(France)" "" "0" "" "" "" "" "00111694" "" "" "" "1" "" "01489" "" "" "F" "no" "(France)" "<00y00m" "0" "28 WG" "" "" "" "00111695" "" "" "" "1" "" "01489" "" "" "?" "?" "(France)" "<00y00m" "0" "29 WG" "" "" "" "00111697" "" "" "" "1" "" "01489" "" "" "?" "" "(France)" "<00y00m" "0" "15 WG" "" "" "" "00111699" "" "" "" "1" "" "01489" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00111700" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00111701" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00111703" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "white" "" "00115069" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00115070" "" "" "" "6" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00115072" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00115073" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00117140" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117141" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117342" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00117344" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117345" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117346" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00117348" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117349" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117351" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "<00y00m00d" "0" "22WG" "" "" "" "00117352" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117353" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117354" "" "" "" "1" "" "01489" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00117355" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117356" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00117358" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117359" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117360" "" "" "" "2" "" "01489" "" "" "F" "?" "(France)" "" "0" "" "" "" "" "00117361" "" "" "" "1" "" "01489" "" "" "F" "?" "(France)" "<00y00m00d" "0" "" "" "" "" "00117362" "" "" "" "1" "" "01489" "" "" "M" "?" "(France)" "" "0" "" "" "" "" "00117364" "" "" "" "1" "" "01489" "" "" "F" "" "(France)" "<00y00m00d" "0" "" "" "" "" "00117366" "" "" "" "3" "" "01489" "" "" "F" "" "(China)" "" "0" "" "" "" "" "00117367" "" "" "" "1" "" "01489" "" "" "F" "?" "(Japan)" "" "0" "" "" "" "" "00117368" "" "" "" "22" "" "01489" "" "large family, 22 carriers, including 7 asymptomatic or pre-symptomatoc individuals at the time of their exam" "F" "no" "(United States)" "" "0" "" "" "" "" "00117369" "" "" "" "1" "" "01489" "" "" "M" "yes" "(India)" "" "0" "" "" "asian" "" "00117370" "" "" "" "3" "" "01489" "" "" "M" "no" "(Thailand)" "" "0" "" "" "thai" "" "00117380" "" "" "" "2" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117381" "" "" "" "5" "" "01489" "{PMID:Kondo H:27408751 }" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117382" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117383" "" "" "" "1" "" "01489" "{PMID:Kondo 2016:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117384" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117385" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117386" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117387" "" "" "" "3" "" "01489" "{PMID:Kondo 2016:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117388" "" "" "" "2" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117389" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117390" "" "" "" "1" "" "01489" "{PMID:Kondo 2016:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117391" "" "" "" "2" "" "01489" "" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117392" "" "" "" "3" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117393" "" "" "" "1" "" "01489" "{PMID:Kondo 2016:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117394" "" "" "" "1" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117395" "" "" "" "2" "" "01489" "{PMID:Kondo H:27408751}" "" "M" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117396" "" "" "" "2" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117397" "" "" "" "2" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117398" "" "" "" "3" "" "01489" "{PMID:Kondo H:27408751}" "" "F" "?" "(Japan)" "" "0" "" "" "Asian" "" "00117399" "" "" "" "1" "" "01489" "" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117400" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "M" "?" "China" "" "0" "" "" "Asian" "HM820" "00117401" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "M" "?" "China" "" "0" "" "" "Asian" "HM814" "00117402" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "F" "?" "China" "" "0" "" "" "Asian" "HM626" "00117403" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "F" "?" "China" "" "0" "" "" "Asian" "HM880" "00117405" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "M" "?" "China" "" "0" "" "" "Asian" "HM309" "00117406" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "M" "?" "China" "" "0" "" "" "Asian" "HM849" "00117407" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "F" "?" "China" "" "0" "" "" "Asian" "HM842" "00117408" "" "" "" "1" "" "01489" "{PMID: Sun 2015:26747767}" "proband" "M" "?" "China" "" "0" "" "" "" "HM862" "00117455" "" "" "" "1" "" "01489" "{PMID:Wang 2016:27390512}" "" "F" "no" "(China)" "" "0" "" "" "Asian" "II.1" "00117456" "" "" "" "3" "" "01489" "{PMID:Wang 2016:27390512}" "" "M" "" "(China)" "" "0" "" "" "Asian" "II.1" "00117457" "" "" "" "2" "" "01489" "{PMID:Wang 2016:27390512}" "" "F" "no" "(China)" "" "0" "" "" "Asian" "II.1" "00117458" "" "" "" "1" "" "01489" "{PMID:Wang 2016:27390512}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117460" "" "" "" "1" "" "01489" "{PMID:Wang 2016:27390512}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117463" "" "" "" "1" "" "01489" "{PMID:Wang 2016:27390512}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117464" "" "" "" "7" "" "01489" "{PMID:Nakashima 2016:27274858}" "" "F" "no" "(Japan)" "" "0" "" "" "Asian" "" "00117465" "" "" "" "1" "" "01489" "{PMID:Liu 20156:27059630}" "" "M" "no" "(China)" "" "0" "" "" "Asian" "II.1" "00117467" "" "" "" "1" "" "01489" "{PMID:Liu 2016:27059630}" "" "M" "no" "(China)" "" "0" "" "" "Asian" "ii" "00117468" "" "" "" "1" "" "01489" "{PMID:Liu 2016:27059630}" "" "F" "no" "(China)" "" "0" "" "" "" "II.1" "00117469" "" "" "" "1" "" "01489" "{PMID:Sangsin 2016:26985960}" "" "M" "no" "(Thailand)" "" "0" "" "" "Asian" "" "00117470" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M" "" "(China)" "" "0" "" "" "Asian" "" "00117471" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117472" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "F" "?" "(China)" "" "0" "" "" "Asian" "" "00117473" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M;rF" "?" "(China)" "" "0" "" "" "Asian" "" "00117505" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117506" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "F" "?" "(China)" "" "0" "" "" "Asian" "" "00117507" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117508" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "M" "?" "(China)" "" "0" "" "" "Asian" "" "00117526" "" "" "" "1" "" "01489" "{PMID: Zhang 2015:26377240}" "" "F" "?" "(China)" "" "0" "" "" "" "" "00132064" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "no" "Brazil" "" "0" "" "" "" "Pat24" "00132065" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "?" "Brazil" "" "0" "" "" "" "Pat25" "00132066" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "no" "Brazil" "" "0" "" "" "" "Pat30" "00180361" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00181200" "" "" "" "1" "" "02581" "" "" "F" "?" "(United States)" "10y" "0" "" "" "white" "FT-PT78783" "00183270" "" "" "" "1" "" "00006" "Lee, ASHG2018 P1041" "2-generation family, 1 affected, unaffected parents" "M" "no" "Taiwan" "" "0" "" "" "" "ASHG2018-P1041" "00208812" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00275586" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00290707" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290708" "" "" "" "122" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290709" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290710" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290711" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296870" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301042" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00304357" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308005" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00309107" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309108" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00320269" "" "" "" "1" "" "01164" "" "prenatal sample" "M" "?" "(Spain)" "" "0" "" "" "" "173155" "00325867" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00328348" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690468" "00328349" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690992" "00328350" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690304" "00328351" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690687" "00328352" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690894" "00328353" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690636" "00328354" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690470" "00328355" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690918" "00328356" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690290" "00328357" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690761" "00328358" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690951" "00328359" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "691000" "00328360" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690245" "00328361" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680834" "00328362" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "712166" "00328363" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690334M" "00331377" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG1457" "00331378" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "10DG1851" "00331379" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "" "15DG1146" "00331380" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "no" "" "" "0" "" "" "" "15DG1160" "00331381" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "15DG1410" "00331382" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "15DG0618" "00333783" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "987" "00333784" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "988" "00333785" "" "" "" "13" "" "00000" "{PMID:Stone 2017:28559085}" "family, 13 affected" "M" "" "(United States)" "" "0" "" "" "" "989" "00359338" "" "" "" "1" "" "01396" "" "" "?" "no" "Brazil" "" "" "" "" "" "" "00359339" "" "" "" "1" "" "01396" "" "" "" "" "" "" "" "" "" "" "" "00359341" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359342" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359344" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359345" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359346" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359347" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359348" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359349" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359351" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359353" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359356" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359358" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00363330" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM845" "00363337" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM309" "00371663" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "178825" "00374107" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00379452" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379453" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379454" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379455" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379456" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379457" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379458" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379459" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379460" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379461" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379462" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379463" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379464" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379465" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379466" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379467" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00382134" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "88" "00384247" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13144" "00384379" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14082" "00384400" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14295" "00384484" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14823" "00384495" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14919" "00385416" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F27-II-4" "00385468" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15001368" "00386742" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2885_004470" "00387625" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "10" "00390031" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1527" "00390034" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1492" "00402814" "" "" "" "2" "cc_by_4.0;1" "04264" "" "" "F" "" "(China)" ">16y" "0" "" "" "Asian" "" "00410585" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat47" "00417026" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417042" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417057" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417059" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417069" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417075" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417079" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417082" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417089" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417098" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417121" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417148" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00419499" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8053" "00419500" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20063" "00419612" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9161" "00431787" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0147" "00431788" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0148" "00431790" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0150" "00431791" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0151" "00431801" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0161" "00431806" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0166" "00431823" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0184" "00440394" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3002.1" "00441513" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5426" "00444086" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444087" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444088" "" "" "" "1" "" "01411" "" "" "" "no" "Japan" "" "" "" "" "" "" "00444089" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444090" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444091" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444092" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444093" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444094" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444095" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444096" "" "" "" "1" "" "01411" "" "" "" "" "Japan" "" "" "" "" "" "" "00444180" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamA" "00444181" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamB" "00444182" "" "" "" "2" "" "00006" "{PMID:Choi 2021:34680973}" "family, 2 patients" "" "" "Korea" "" "0" "" "" "" "FamC" "00444183" "" "" "" "3" "" "00006" "{PMID:Choi 2021:34680973}" "family, 3 patients" "" "" "Korea" "" "0" "" "" "" "FamD" "00444184" "" "" "" "2" "" "00006" "{PMID:Choi 2021:34680973}" "family, 2 patients" "" "" "Korea" "" "0" "" "" "" "FamE" "00444185" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamF" "00444188" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}, {PMID:Moon 2021:35052368}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamI;Pat12" "00444189" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamJ" "00444190" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}, {PMID:Moon 2021:35052368}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamK;Pat11" "00444191" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamL" "00444192" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamM" "00444193" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamN" "00444194" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamO" "00444195" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamP" "00444196" "" "" "" "5" "" "00006" "{PMID:Choi 2021:34680973}" "family, 5 patients" "" "" "Korea" "" "0" "" "" "" "FamQ" "00444197" "" "" "" "4" "" "00006" "{PMID:Choi 2021:34680973}" "family, 4 patients" "" "" "Korea" "" "0" "" "" "" "FamR" "00444199" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamT" "00444201" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamV" "00444202" "" "" "" "1" "" "00006" "{PMID:Choi 2021:34680973}" "family, 1 patient" "" "" "Korea" "" "0" "" "" "" "FamW" "00445035" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "AOM000221" "00445036" "" "" "" "2" "" "00006" "{PMID:Kessel 2021:34169787}" "family, 2 affected" "" "" "Denmark" "" "0" "" "" "" "AOM000603" "00447558" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-201" "00459487" "" "" "" "1" "" "04787" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "COL2A1 III:1" "00459539" "" "" "" "1" "" "00006" "{PMID:Szczałuba 2018:30238967}, {PMID:Chmielewska 2024:34527963}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "patient;PatB" "00466687" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "F" "" "Czech Republic" "" "0" "" "" "" "Pat8" "00466699" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat21" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 998 "{{individualid}}" "{{diseaseid}}" "00024278" "00689" "00024279" "00688" "00024280" "00000" "00024281" "00000" "00024282" "00688" "00024283" "00688" "00024284" "00686" "00024285" "00686" "00024286" "00692" "00024287" "00693" "00024288" "00686" "00024289" "00690" "00024290" "00690" "00024291" "00690" "00024292" "00692" "00024293" "00686" "00024294" "00688" 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"00694" "00038461" "00694" "00038462" "00686" "00038463" "00686" "00038464" "00686" "00038465" "00686" "00038466" "00686" "00038467" "04258" "00038468" "00686" "00038469" "00198" "00038470" "00686" "00038471" "00686" "00038472" "00686" "00038473" "00687" "00038474" "00696" "00038475" "00687" "00038476" "00687" "00038477" "00693" "00038478" "00689" "00038479" "00686" "00038480" "00692" "00038481" "00198" "00038482" "00686" "00038483" "00689" "00038484" "00686" "00038485" "00699" "00038486" "00699" "00038487" "00686" "00038488" "00686" "00038489" "00689" "00038490" "00689" "00038491" "00686" "00038492" "00686" "00038493" "00688" "00038494" "00686" "00038495" "00686" "00038496" "00198" "00038497" "00693" "00038498" "00693" "00038499" "00693" "00038500" "00693" "00038501" "00693" "00038738" "00198" "00038794" "00198" "00038795" "00198" "00050129" "00689" "00051537" "00689" "00051538" "00689" "00051540" "00688" "00060252" "00689" "00080811" "00686" "00104010" "03381" "00111426" "00689" "00111431" "00198" "00111432" "00689" "00111433" "00693" "00111434" "00686" "00111655" "00690" "00111679" "00686" "00111680" "00688" "00111683" "00198" "00111684" "00686" "00111694" "00687" "00111695" "00689" "00111697" "00686" "00111699" "00198" "00111700" "04258" "00111701" "00686" "00111703" "00686" "00115069" "00686" "00115070" "00686" "00115072" "00689" "00115073" "00689" "00117140" "00686" "00117141" "00686" "00117342" "00687" "00117344" "00686" "00117345" "00686" "00117346" "04257" "00117348" "00686" "00117349" "00686" "00117351" "00688" "00117352" "00686" "00117353" "00686" "00117354" "00689" "00117355" "00686" "00117356" "00686" "00117358" "00686" "00117359" "00686" "00117360" "04658" "00117361" "00688" "00117362" "00690" "00117364" "00688" "00117366" "00690" "00117367" "00689" "00117368" "00686" "00117369" "00686" "00117370" "00689" "00117380" "00686" "00117381" "00686" "00117382" "00686" "00117383" "00686" "00117384" "00686" "00117385" "00686" "00117386" "00686" "00117387" "00686" "00117388" "00686" "00117389" "00686" "00117390" "00686" "00117391" "00686" "00117392" "00686" "00117393" "00686" "00117394" "00686" "00117395" "00686" "00117396" "00686" "00117397" "00686" "00117398" "00686" "00117399" "00198" "00117400" "00198" "00117401" "00198" "00117402" "00198" "00117403" "00198" "00117405" "00198" "00117406" "00198" "00117407" "00198" "00117408" "00198" "00117455" "00686" "00117456" "00686" "00117457" "00686" "00117458" "00686" "00117460" "00686" "00117463" "00686" "00117464" "00692" "00117465" "00689" "00117467" "00689" "00117468" "00689" "00117469" "00689" "00117470" "00689" "00117471" "00689" "00117472" "00690" "00117473" "00689" "00117505" "00689" "00117506" "00690" "00117507" "00689" "00117508" "00689" "00117526" "00689" "00132064" "00689" "00132065" "00688" "00132066" "00687" "00180361" "00693" "00183270" "05479" "00275586" "00198" "00290707" "00198" "00290708" "00198" "00290709" "00198" "00290710" "00198" "00290711" "00198" "00296870" "00198" "00301042" "00698" "00304357" "00198" "00308005" "00198" "00309107" "04214" "00309108" "04214" "00320269" "00688" "00325867" "00198" "00328348" "04214" "00328349" "04214" "00328350" "04214" "00328351" "04214" "00328352" "04214" "00328353" "04214" "00328354" "04214" "00328355" "04214" "00328356" "04214" "00328357" "04214" "00328358" "04214" "00328359" "04214" "00328360" "04214" "00328361" "04214" "00328362" "04214" "00328363" "04214" "00331377" "05517" "00331378" "05517" "00331379" "05517" "00331380" "05517" "00331381" "05517" "00331382" "05517" "00333783" "04214" "00333784" "04214" "00333785" "04214" "00359338" "00692" "00359339" "00692" "00359341" "00699" "00359342" "00690" "00359344" "00689" "00359345" "00689" "00359346" "00689" "00359347" "00689" "00359348" "00689" "00359349" "00689" "00359351" "00689" "00359353" "00689" "00359356" "00692" "00359358" "00694" "00363330" "04214" "00363337" "04214" "00371663" "00686" "00374107" "00198" "00379452" "04214" "00379453" "04214" "00379454" "04214" "00379455" "04214" "00379456" "04214" "00379457" "04214" "00379458" "04214" "00379459" "04214" "00379460" "04214" "00379461" "04214" "00379462" "04214" "00379463" "04214" "00379464" "04214" "00379465" "04214" "00379466" "04214" "00379467" "04214" "00382134" "00686" "00384247" "00198" "00384379" "04214" "00384400" "04214" "00384484" "04214" "00384495" "04214" "00385416" "04214" "00385468" "04214" "00386742" "04214" "00387625" "04214" "00390031" "04214" "00390034" "04214" "00402814" "00689" "00410585" "00198" "00417026" "04224" "00417042" "04224" "00417057" "04224" "00417059" "00198" "00417069" "04224" "00417075" "00198" "00417079" "04224" "00417082" "00198" "00417089" "00198" "00417098" "04224" "00417121" "00692" "00417148" "04224" "00419499" "00198" "00419500" "00198" "00419612" "00198" "00431787" "00169" "00431788" "04224" "00431790" "04224" "00431791" "04224" "00431801" "00169" "00431806" "00198" "00431823" "00198" "00440394" "00198" "00441513" "05086" "00444086" "00689" "00444087" "00689" "00444088" "00689" "00444089" "00689" "00444090" "00689" "00444091" "00689" "00444092" "00689" "00444093" "00689" "00444094" "00689" "00444095" "00689" "00444096" "04224" "00444180" "04224" "00444181" "04224" "00444182" "04224" "00444183" "04224" "00444184" "04224" "00444185" "04224" "00444188" "04224" "00444189" "04224" "00444190" "04224" "00444191" "04224" "00444192" "04224" "00444193" "04224" "00444194" "04224" "00444195" "04224" "00444196" "04224" "00444197" "04224" "00444199" "04224" "00444201" "04224" "00444202" "04224" "00445035" "00296" "00445036" "00296" "00447558" "00198" "00459487" "05517" "00459539" "05611" "00466687" "04184" "00466699" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00169, 00198, 00296, 00686, 00687, 00688, 00689, 00690, 00691, 00692, 00693, 00694, 00695, 00696, 00697, 00698, 00699, 00970, 00971, 03381, 04152, 04184, 04214, 04224, 04256, 04257, 04258, 04259, 04260, 04261, 04658, 05086, 05479, 05517, 05611, 06164 ## Count = 968 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020396" "00689" "00024278" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020397" "00688" "00024279" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020398" "00000" "00024280" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020399" "00000" "00024281" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020400" "00688" "00024282" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020401" "00688" "00024283" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020402" "00686" "00024284" "00006" "Unknown" "" "arthroophthalmopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020403" "00686" "00024285" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020404" "00692" "00024286" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020405" "00693" "00024287" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020406" "00686" "00024288" "00006" "Unknown" "" "arthroophthalmopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020407" "00690" "00024289" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020408" "00690" "00024290" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020409" "00690" "00024291" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020410" "00692" "00024292" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020411" "00686" "00024293" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020412" "00688" "00024294" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020413" "00688" "00024295" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020414" "00688" "00024296" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020415" "00688" "00024297" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020416" "00693" "00024298" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020417" "00688" "00024299" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020418" "00689" "00024300" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020419" "00689" "00024301" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020420" "04152" "00024302" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020421" "00689" "00024303" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020422" "00687" "00024304" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020423" "00692" "00024305" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020424" "00688" "00024306" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020425" "00692" "00024307" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020426" "00686" "00024308" "00818" "Familial, autosomal dominant" "3y" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020427" "00692" "00024309" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020428" "00686" "00024310" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020429" "00686" "00024311" "00006" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020430" "00198" "00024312" "00006" "Unknown" "" "osteochondrodysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020431" "00692" "00024313" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020432" "00688" "00024314" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020433" "00689" "00024315" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020434" "00689" "00024316" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020435" "00688" "00024317" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020436" "00688" "00024318" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020437" "00688" "00024319" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020438" "00687" "00024320" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020439" "00689" "00024321" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020440" "00687" "00024322" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020441" "00686" "00024323" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020442" "00689" "00024324" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020443" "00689" "00024325" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020444" "00689" "00024326" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020445" "00686" "00024327" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020446" "00686" "00024328" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020447" "00686" "00024329" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020448" "00686" "00024330" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020449" "00686" "00024331" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020450" "00686" "00024332" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020451" "00686" "00024333" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020452" "00692" "00024334" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020453" "00686" "00024335" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020454" "00686" "00024336" "00818" "Familial" "" "Significant auditory and skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020455" "00698" "00024337" "00818" "Familial" "" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020456" "00698" "00024338" "00818" "Familial" "" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020457" "00698" "00024339" "00818" "Familial" "" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020458" "00686" "00024340" "00818" "Familial" "" "Significant auditory and skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020459" "00686" "00024341" "00818" "Familial" "" "Significant auditory and skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020460" "00686" "00024342" "00818" "Familial" "" "Significant auditory and skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020461" "00688" "00024343" "00006" "Unknown" "" "see paper; died after 10h, ..., hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020462" "00688" "00024344" "00006" "Unknown" "" "see paper; ..., hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020463" "00688" "00024345" "00006" "Unknown" "" "see paper; ..., hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020464" "00688" "00024346" "00006" "Unknown" "" "see paper; ..., hypochondrogenesis; remarkable phenotype radiographically by more metaphyseal involvement\r\nand clinically by absence of respiratory\r\ninsufficiency in the postnatal period; died at 13m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020465" "00692" "00024347" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020466" "00688" "00024348" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020467" "00688" "00024349" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020468" "00688" "00024350" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020469" "00688" "00024351" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020470" "00688" "00024352" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020471" "00688" "00024353" "00818" "Unknown" "<0d" "hypochondrogenesis" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020472" "00688" "00024354" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020473" "00688" "00024355" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020474" "00688" "00024356" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020475" "00688" "00024357" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020476" "00688" "00024358" "00818" "Unknown" "<0d" "hypochondrogenesis" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020477" "00688" "00024359" "00818" "Unknown" "<0d" "hypochondrogenesis" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020478" "00686" "00024360" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020479" "00686" "00024361" "00818" "Isolated (sporadic)" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020480" "00686" "00024362" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020481" "00692" "00024363" "00006" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020482" "00698" "00024364" "00006" "Unknown" "" "vitreoretinal degeneration, Wagner" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020483" "00698" "00024365" "00006" "Unknown" "" "vitreoretinopathy with phalang; dysplasia, epiphysial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020484" "00686" "00024366" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020485" "00686" "00024367" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020486" "00686" "00024368" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020487" "00686" "00024369" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020488" "00686" "00024370" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020489" "00686" "00024371" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020490" "00686" "00024372" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020491" "00690" "00024373" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020492" "00690" "00024374" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020493" "00694" "00024375" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020494" "00694" "00024376" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020495" "00688" "00024377" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020496" "00689" "00024378" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020497" "00689" "00024379" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020498" "00692" "00024380" "00818" "Isolated (sporadic)" "6y" "" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020499" "00692" "00024381" "00818" "Isolated (sporadic)" "" "" "0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020500" "00686" "00024382" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020501" "00694" "00024383" "00818" "Unknown" "0y" "small thorax with prominent abdomen, respiratory insufficiency" "0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020502" "00694" "00024384" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020503" "00694" "00024385" "00818" "Familial" "1d" "" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020504" "00694" "00024386" "00818" "Isolated (sporadic)" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020505" "00694" "00024387" "00818" "Unknown" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020506" "00694" "00024388" "00818" "Familial" "<0d" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020507" "00198" "00024389" "00006" "Unknown" "" "rhegmatogenous retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020508" "00686" "00024390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020509" "00688" "00024391" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020510" "00688" "00024392" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020511" "00688" "00024393" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020512" "00688" "00024394" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020513" "00689" "00024395" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020514" "00688" "00024396" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020515" "00688" "00024397" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020516" "00688" "00024398" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020517" "00688" "00024399" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020518" "00694" "00024400" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020519" "00689" "00024401" "00006" "Familial, autosomal dominant" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020520" "00689" "00024402" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020521" "00692" "00024403" "00006" "Unknown" "" "spondyloepiphyseal dysplasia tarda" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020522" "00689" "00024404" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020523" "00689" "00024405" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020524" "00689" "00024406" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020525" "00689" "00024407" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020526" "00689" "00024408" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020527" "00689" "00024409" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020528" "00689" "00024410" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020529" "00689" "00024411" "00006" "Familial" "" "SEDC-M like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020530" "00689" "00024412" "00006" "Familial" "" "SEDC-M like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020531" "00692" "00024413" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020532" "00686" "00024414" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020533" "00688" "00024415" "00006" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020534" "00686" "00024416" "00006" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020535" "00686" "00024417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020536" "00686" "00024418" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020537" "00693" "00024419" "00006" "Unknown" "" "osteoarthritis ?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020538" "00696" "00024420" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020539" "00696" "00024421" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020540" "00686" "00024422" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020541" "00689" "00024423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020542" "00687" "00024424" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020543" "00686" "00024425" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020544" "00686" "00024426" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020545" "00686" "00024427" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020546" "00686" "00024428" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020547" "00686" "00024429" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020548" "00686" "00024430" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020549" "00686" "00024431" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020550" "00686" "00024432" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020551" "00686" "00024433" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020552" "00686" "00024434" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020553" "00686" "00024435" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020554" "00686" "00024436" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020555" "00686" "00024437" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020556" "00686" "00024438" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020557" "00686" "00024439" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020558" "00686" "00024440" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020559" "00692" "00024441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020560" "00692" "00024442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020561" "00692" "00024443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020562" "00692" "00024444" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020563" "00692" "00024445" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020564" "00687" "00024446" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020565" "00687" "00024447" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020566" "00690" "00024448" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020567" "00689" "00024449" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020568" "00689" "00024450" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020569" "00689" "00024451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020570" "00689" "00024452" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020571" "00692" "00024453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020572" "00686" "00024454" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020573" "00686" "00024455" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020574" "00686" "00024456" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020575" "00698" "00024457" "00818" "Unknown" "67y" "Predominantly ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020576" "00698" "00024458" "00818" "Unknown" "39y" "Predominantly ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020577" "00688" "00024459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020578" "00686" "00024460" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020579" "00686" "00024461" "00006" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020580" "00686" "00024462" "00006" "Familial" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020581" "00686" "00024463" "00006" "Familial" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020582" "00686" "00024464" "00006" "Familial" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020583" "00686" "00024465" "00006" "Familial" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020584" "00686" "00024466" "00006" "Familial" "79y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020586" "00686" "00024468" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020587" "00686" "00024469" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020588" "00692" "00024470" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020589" "00686" "00024471" "00818" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020590" "00686" "00024472" "00818" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020591" "00686" "00024473" "00818" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020592" "00686" "00024474" "00818" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020593" "00686" "00024475" "00818" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020594" "00686" "00024476" "00818" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020595" "00686" "00024477" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020596" "00686" "00024478" "00818" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020597" "00686" "00024479" "00818" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020598" "00686" "00024480" "00818" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020599" "00686" "00024481" "00818" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020600" "00686" "00024482" "00818" "Unknown" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020601" "00686" "00024483" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020602" "00686" "00024484" "00818" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020603" "00686" "00024485" "00818" "Unknown" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020604" "00686" "00024486" "00818" "Unknown" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020605" "00686" "00024487" "00818" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020606" "00686" "00024488" "00818" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020607" "00686" "00024489" "00818" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020608" "00686" "00024490" "00818" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020609" "00686" "00024491" "00818" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020610" "00686" "00024492" "00818" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020611" "00686" "00024493" "00818" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020612" "00686" "00024494" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020613" "00686" "00024495" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020614" "00686" "00024496" "00818" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020615" "00686" "00024497" "00818" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020616" "00686" "00024498" "00818" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020617" "00686" "00024499" "00818" "Unknown" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020618" "00686" "00024500" "00818" "Unknown" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020619" "00686" "00024501" "00818" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020620" "00686" "00024502" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020621" "00686" "00024503" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020622" "00686" "00024504" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020623" "00698" "00024505" "00818" "Familial" "" "Predominantly ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020624" "00686" "00024506" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020625" "00689" "00024507" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020626" "00698" "00024508" "00818" "Familial" "" "Predominantly ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020627" "00689" "00024509" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020628" "00686" "00024510" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020629" "00686" "00024511" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020630" "00686" "00024512" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020631" "00686" "00024513" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020632" "00686" "00024514" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020633" "00686" "00024515" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020634" "00686" "00024516" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020635" "00686" "00024517" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020636" "00686" "00024518" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020637" "00686" "00024519" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020638" "00686" "00024520" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020639" "00686" "00024521" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020640" "00686" "00024522" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020641" "00686" "00024523" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020642" "00686" "00024524" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020643" "00686" "00024525" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020644" "00686" "00024526" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020645" "00686" "00024527" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020646" "00686" "00024528" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020647" "00686" "00024529" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020648" "00686" "00024530" "00818" "Familial" "" "Hypoplastic vitreous phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020649" "00686" "00024531" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020650" "00686" "00024532" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020651" "00688" "00024533" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020652" "00689" "00024534" "00818" "Unknown" "13y" "" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020653" "00690" "00024535" "00818" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020654" "00690" "00024536" "00818" "Unknown" "31y" "severe myopia \r\ndeafness\r\nshort stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020655" "00692" "00024537" "00818" "Unknown" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020656" "00686" "00024538" "00818" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020657" "00689" "00024539" "00818" "Unknown" "2y6m" "" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020658" "00689" "00024540" "00818" "Unknown" "13y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020659" "00689" "00024541" "00818" "Unknown" "13y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020660" "00686" "00024542" "00818" "Unknown" "09y" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020661" "00689" "00024543" "00818" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020662" "00689" "00024544" "00818" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020663" "00686" "00024545" "00818" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020664" "00686" "00024546" "00818" "Unknown" "3y" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020665" "00686" "00024547" "00818" "Unknown" "16y" "" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020666" "00686" "00024548" "00818" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020667" "00686" "00024549" "00818" "Unknown" "25y" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020668" "00686" "00024550" "00818" "Unknown" "1y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020669" "00686" "00024551" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020670" "00690" "00024552" "00818" "Unknown" "11y" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020671" "00686" "00024553" "00818" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020673" "00198" "00024555" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020674" "00689" "00024556" "00818" "Unknown" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020676" "00686" "00024558" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020677" "00689" "00024559" "00818" "Unknown" "1y3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020678" "00689" "00024560" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020679" "00689" "00024561" "00818" "Unknown" "51y" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020680" "00690" "00024562" "00818" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020681" "00690" "00024563" "00818" "Unknown" "3y" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020682" "00689" "00024564" "00818" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020683" "00689" "00024565" "00818" "Unknown" "2y" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020684" "00686" "00024566" "00818" "Unknown" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020685" "00686" "00024567" "00818" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020686" "00686" "00024568" "00818" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020687" "00686" "00024569" "00818" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020688" "00686" "00024570" "00818" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020689" "00686" "00024571" "00818" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020690" "00686" "00024572" "00818" "Unknown" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020691" "00686" "00024573" "00818" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020692" "00686" "00024574" "00818" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020693" "00686" "00024575" "00818" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020694" "00686" "00024576" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020695" "00686" "00024577" "00818" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020696" "00686" "00024578" "00818" "Unknown" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020697" "00686" "00024579" "00818" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020698" "00686" "00024580" "00818" "Unknown" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020699" "00686" "00024581" "00818" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020700" "00686" "00024582" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020701" "00686" "00024583" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020702" "00686" "00024584" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020703" "00686" "00024585" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020704" "00686" "00024586" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020705" "00686" "00024587" "00818" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020706" "00686" "00024588" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020707" "00686" "00024589" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020708" "00686" "00024590" "00818" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020709" "00686" "00024591" "00818" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020710" "00686" "00024592" "00818" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020711" "00686" "00024593" "00818" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020712" "00686" "00024594" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020713" "00686" "00024595" "00818" "Unknown" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020714" "00686" "00024596" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020715" "00686" "00024597" "00818" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020716" "00686" "00024598" "00818" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020717" "00686" "00024599" "00818" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020718" "00686" "00024600" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020719" "00686" "00024601" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020720" "00686" "00024602" "00818" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020721" "00686" "00024603" "00818" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020722" "00686" "00024604" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020723" "00686" "00024605" "00818" "Unknown" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020724" "00686" "00024606" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020725" "00686" "00024607" "00818" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020726" "00686" "00024608" "00818" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020727" "00686" "00024609" "00818" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020728" "00686" "00024610" "00818" "Unknown" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020729" "00686" "00024611" "00818" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020730" "00686" "00024612" "00818" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020731" "00686" "00024613" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020732" "00686" "00024614" "00818" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020733" "00686" "00024615" "00818" "Unknown" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020734" "00686" "00024616" "00818" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020735" "00686" "00024617" "00818" "Unknown" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020736" "00686" "00024618" "00818" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020737" "00686" "00024619" "00818" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020738" "00686" "00024620" "00818" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020739" "00686" "00024621" "00818" "Unknown" "18y" "" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020740" "00686" "00024622" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020741" "00686" "00024623" "00818" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020742" "00686" "00024624" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020743" "00686" "00024625" "00818" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020744" "00686" "00024626" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020745" "00686" "00024627" "00818" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020746" "00686" "00024628" "00818" "Unknown" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020747" "00686" "00024629" "00818" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020748" "00686" "00024630" "00818" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020749" "00686" "00024631" "00818" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020750" "00686" "00024632" "00818" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020751" "00686" "00024633" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020752" "00686" "00024634" "00818" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020753" "00686" "00024635" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020754" "00686" "00024636" "00818" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020755" "00686" "00024637" "00818" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020756" "00686" "00024638" "00818" "Familial" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020757" "00686" "00024639" "00818" "Familial" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020758" "00686" "00024640" "00818" "Familial" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020759" "00686" "00024641" "00818" "Familial" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020760" "00686" "00024642" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020761" "00686" "00024643" "00818" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020762" "00686" "00024644" "00818" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020763" "00686" "00024645" "00818" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020764" "00686" "00024646" "00818" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020765" "00686" "00024647" "00818" "Familial" "" "Significant auditory and skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020766" "00686" "00024648" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020767" "00686" "00024649" "00818" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020768" "00686" "00024650" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020769" "00686" "00024651" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020770" "00686" "00024652" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020771" "00686" "00024653" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020772" "00686" "00024654" "00818" "Familial" "36y" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020773" "00686" "00024655" "00818" "Unknown" "40y" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020774" "00686" "00024656" "00818" "Familial" "" "Predominantly ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020775" "00686" "00024657" "00818" "Unknown" "5y6m" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020776" "00686" "00024658" "00818" "Unknown" "" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020777" "00686" "00024659" "00818" "Familial" "" "Predominant ocular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020778" "00686" "00024660" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020779" "00686" "00024661" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020780" "00686" "00024662" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020781" "00686" "00024663" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020782" "00686" "00024664" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020783" "00686" "00024665" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020784" "00686" "00024666" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020785" "00686" "00024667" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020786" "00686" "00024668" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020787" "00686" "00024669" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020788" "00686" "00024670" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020789" "00686" "00024671" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020790" "00686" "00024672" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020791" "00686" "00024673" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020792" "00686" "00024674" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020793" "00686" "00024675" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020794" "00686" "00024676" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020795" "00686" "00024677" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020796" "00686" "00024678" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020797" "00686" "00024679" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020798" "00686" "00024680" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020799" "00686" "00024681" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020800" "00686" "00024682" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020801" "00686" "00024683" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020802" "00686" "00024684" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020803" "00686" "00024685" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020804" "00686" "00024686" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020805" "00686" "00024687" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020806" "00686" "00024688" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020807" "00686" "00024689" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020808" "00686" "00024690" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020809" "00686" "00024691" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020810" "00686" "00024692" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020811" "00686" "00024693" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020812" "00686" "00024694" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020813" "00689" "00024695" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020814" "00686" "00024696" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020815" "00686" "00024697" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020816" "00686" "00024698" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020817" "00686" "00024699" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020818" "00686" "00024700" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020819" "04152" "00024701" "00818" "Isolated (sporadic)" "19y" "" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020820" "00686" "00024702" "00818" "Familial" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020821" "00686" "00024703" "00818" "Familial" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020822" "00686" "00024704" "00818" "Familial" "" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020823" "04152" "00024705" "00818" "Familial" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020824" "00686" "00024706" "00818" "Isolated (sporadic)" "" "Brachydactyly" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020825" "00686" "00024707" "00818" "Isolated (sporadic)" "" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020826" "00689" "00024708" "00818" "Isolated (sporadic)" "18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020827" "00689" "00024709" "00818" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020828" "00689" "00024710" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020829" "04152" "00024711" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020830" "00695" "00024712" "00818" "Isolated (sporadic)" "22y" "" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020831" "00686" "00024713" "00818" "Familial" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020832" "00686" "00024714" "00818" "Familial" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020833" "00686" "00024715" "00818" "Familial" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020834" "00686" "00024716" "00818" "Familial" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020835" "00686" "00024717" "00818" "Familial" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020836" "00686" "00024718" "00818" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020837" "00686" "00024719" "00818" "Familial" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020838" "00686" "00024720" "00818" "Familial" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020839" "00686" "00024721" "00818" "Familial" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020840" "00686" "00024722" "00818" "Familial" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020841" "00686" "00024723" "00818" "Familial" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020842" "00686" "00024724" "00818" "Familial" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020843" "00686" "00024725" "00818" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020844" "00686" "00024726" "00818" "Familial" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020845" "00686" "00024727" "00818" "Familial" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020846" "00686" "00024728" "00818" "Familial" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020847" "00686" "00024729" "00818" "Familial" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020848" "00686" "00024730" "00818" "Familial" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020849" "00686" "00024731" "00818" "Familial" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020850" "00686" "00024732" "00818" "Familial" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020851" "00686" "00024733" "00818" "Familial" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020852" "00686" "00024734" "00818" "Familial" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020853" "00686" "00024735" "00818" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020854" "00686" "00024736" "00818" "Familial" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020855" "00686" "00024737" "00818" "Familial" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020856" "00686" "00024738" "00818" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020857" "00686" "00024739" "00818" "Familial" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020858" "00686" "00024740" "00818" "Familial" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020859" "00686" "00024741" "00818" "Familial" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020860" "00686" "00024742" "00818" "Familial" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020861" "00686" "00024743" "00818" "Familial" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020862" "00686" "00024744" "00818" "Familial" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020863" "00686" "00024745" "00818" "Familial" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020864" "00686" "00024746" "00818" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020865" "00686" "00024747" "00818" "Familial" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020866" "00686" "00024748" "00818" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020867" "00686" "00024749" "00818" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020868" "00686" "00024750" "00818" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020869" "00686" "00024751" "00818" "Familial" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020870" "00686" "00024752" "00818" "Familial" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020871" "00686" "00024753" "00818" "Familial" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020872" "00686" "00024754" "00818" "Familial" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020873" "00686" "00024755" "00818" "Familial" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020874" "00686" "00024756" "00818" "Familial" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020875" "00686" "00024757" "00818" "Familial" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020876" "00686" "00024758" "00818" "Familial" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020877" "00686" "00024759" "00818" "Familial" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020878" "00689" "00024760" "00818" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020879" "00689" "00024761" "00818" "Familial, autosomal dominant" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020880" "00689" "00024762" "00818" "Familial, autosomal dominant" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020881" "00689" "00024763" "00818" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020882" "00689" "00024764" "00818" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020883" "00689" "00024765" "00818" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020884" "00689" "00024766" "00818" "Familial, autosomal dominant" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020885" "00689" "00024767" "00818" "Familial, autosomal dominant" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020886" "00689" "00024768" "00818" "Familial, autosomal dominant" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020887" "00686" "00024769" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020888" "00692" "00024770" "00818" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020889" "00692" "00024771" "00818" "Familial" "11y" "" "5y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020890" "00692" "00024772" "00818" "Familial" "11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020891" "00688" "00024773" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020892" "00689" "00024774" "00818" "Familial" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020893" "00686" "00024775" "00818" "Familial" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020894" "00686" "00024776" "00818" "Familial" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020895" "00686" "00024777" "00818" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020896" "00686" "00024778" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020897" "00686" "00024779" "00818" "Familial, autosomal dominant" "31y" "" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020898" "00686" "00024780" "00818" "Familial, autosomal dominant" "" "" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020899" "00686" "00024781" "00818" "Unknown" "3y" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020900" "00686" "00024782" "00818" "Unknown" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020901" "00686" "00024783" "00818" "Familial, autosomal dominant" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020902" "00686" "00024784" "00818" "Unknown" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020903" "00689" "00024785" "00818" "Unknown" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020904" "00686" "00024786" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020905" "00686" "00024787" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020906" "00686" "00024788" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020907" "00686" "00024789" "00818" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020908" "00686" "00024790" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020909" "00686" "00024791" "00818" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020910" "00686" "00024792" "00818" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020911" "00686" "00024793" "00818" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020912" "00686" "00024794" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020913" "00686" "00024795" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020916" "00686" "00024798" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020917" "00689" "00024799" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020918" "00686" "00024800" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020919" "00686" "00024801" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020920" "00688" "00024802" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020921" "00686" "00024803" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020922" "00689" "00024804" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020923" "00686" "00024805" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020924" "00686" "00024806" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020925" "00689" "00024807" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020926" "00690" "00024808" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020927" "00689" "00024809" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020928" "00688" "00024810" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020929" "00688" "00024811" "00818" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020930" "00688" "00024812" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020931" "00686" "00024813" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020932" "00699" "00024814" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020933" "00699" "00024815" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020934" "00690" "00024816" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020935" "00686" "00024817" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020936" "00693" "00024818" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020937" "00693" "00024819" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020938" "00693" "00024820" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020939" "00693" "00024821" "00818" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020940" "00686" "00024822" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020941" "00693" "00024823" "00818" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020942" "00686" "00024824" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020943" "00686" "00024825" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020944" "00686" "00024826" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020945" "00686" "00024827" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020946" "00198" "00024828" "00818" "Unknown" "" "dysspondyloenchondromatosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020947" "00689" "00024829" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020948" "00686" "00024830" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020949" "00686" "00024831" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020950" "00690" "00024832" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020951" "00686" "00024833" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020952" "00692" "00024834" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020953" "00692" "00024835" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020954" "00688" "00024836" "00818" "Unknown" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020955" "00689" "00024837" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020956" "00693" "00024838" "00818" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020957" "00689" "00024839" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020958" "00689" "00024840" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020959" "00686" "00024841" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020960" "00686" "00024842" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020961" "00690" "00024843" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020962" "00689" "00024844" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020963" "00686" "00024845" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020964" "00689" "00024846" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020965" "00686" "00024847" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020966" "00693" "00024848" "00818" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020967" "00690" "00024849" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020968" "00686" "00024850" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020969" "00686" "00024851" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020970" "00689" "00024852" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020971" "00689" "00024853" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020972" "00686" "00024854" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020973" "00686" "00024855" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020974" "00690" "00024856" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020975" "00690" "00024857" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020976" "00689" "00024858" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020977" "00686" "00024859" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020978" "00686" "00024860" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020979" "00686" "00024861" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020980" "00686" "00024862" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020981" "00689" "00024863" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020982" "00198" "00024864" "00818" "Unknown" "" "NR" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020983" "00689" "00024865" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020984" "00689" "00024866" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020985" "00686" "00024867" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020986" "00686" "00024868" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020987" "00686" "00024869" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020988" "00689" "00024870" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020989" "00686" "00024871" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020990" "00686" "00024872" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020991" "00689" "00024873" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020992" "00686" "00024874" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020993" "00686" "00024875" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020994" "00686" "00024876" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020995" "00686" "00024877" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020996" "00686" "00024878" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020997" "00686" "00024879" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020998" "00686" "00024880" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020999" "00689" "00024881" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021000" "00690" "00024882" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021001" "00689" "00024883" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021002" "00686" "00024884" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021003" "00688" "00024885" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021004" "00693" "00024886" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021005" "00693" "00024887" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021006" "00693" "00024888" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021007" "00693" "00024889" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021008" "00693" "00024890" "00818" "Familial" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021009" "00686" "00024891" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021010" "00686" "00024892" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021011" "00686" "00024893" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021012" "00198" "00024894" "00818" "Unknown" "" "dysspondyloenchondromatosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021013" "00688" "00024895" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021014" "00693" "00024896" "00818" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021015" "00690" "00024897" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021016" "00686" "00024898" "00006" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021017" "00687" "00024899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021018" "00686" "00024900" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021019" "00687" "00024901" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021020" "00687" "00024902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021021" "00686" "00024903" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021022" "00686" "00024904" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021023" "00686" "00024905" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021024" "00689" "00024906" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021025" "00689" "00024907" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021026" "00692" "00024908" "00006" "Unknown" "" "spondyloepiphyseal dysplasia tarda" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021027" "00689" "00024909" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021028" "00689" "00024910" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021029" "00689" "00024911" "00006" "Unknown" "" "SEDC-M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021030" "00692" "00024912" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021031" "00689" "00024913" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021032" "00689" "00024914" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021033" "00689" "00024915" "00006" "Unknown" "" "SEDC-S" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021034" "00692" "00024916" "00006" "Unknown" "" "spondyloepiphyseal dysplasia tarda" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021035" "00687" "00024917" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021036" "00687" "00024918" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021037" "00686" "00024919" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021038" "00690" "00024920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028929" "00686" "00038402" "00818" "Unknown" "7y" "" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028930" "00692" "00038403" "00818" "Unknown" "28y" "" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028931" "00692" "00038404" "00818" "Unknown" "" "18WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028932" "00693" "00038405" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028933" "00693" "00038406" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028934" "00686" "00038407" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028935" "00686" "00038408" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028936" "00693" "00038409" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028937" "00687" "00038410" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028938" "00694" "00038411" "00818" "Isolated (sporadic)" "" "20WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028939" "00692" "00038412" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028940" "04257" "00038413" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028941" "04257" "00038414" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028942" "04259" "00038415" "00818" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028943" "00693" "00038416" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028944" "00693" "00038417" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028945" "00697" "00038418" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028946" "00697" "00038419" "00818" "Familial, autosomal dominant" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028947" "00696" "00038420" "00818" "Unknown" "40y" "" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028948" "04257" "00038421" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028949" "00689" "00038422" "00818" "Familial, autosomal dominant" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028950" "00697" "00038423" "00818" "Familial, autosomal dominant" "40y" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028951" "00693" "00038424" "00818" "Familial, autosomal dominant" "13y" "early onset osteoarthritis" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028952" "00689" "00038425" "00818" "Familial, autosomal dominant" "" "18WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028953" "04260" "00038426" "00818" "Isolated (sporadic)" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028954" "00690" "00038427" "00818" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028955" "00687" "00038428" "00818" "Unknown" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028956" "00687" "00038429" "00818" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028957" "00687" "00038430" "00818" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028958" "00697" "00038431" "00818" "Familial, autosomal dominant" "13y" "" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028959" "00688" "00038432" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028960" "00688" "00038433" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028961" "04256" "00038434" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028962" "00689" "00038435" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028963" "04261" "00038436" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028964" "00686" "00038437" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028965" "00687" "00038438" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028966" "00686" "00038439" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028967" "00692" "00038440" "00818" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028968" "00689" "00038441" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028969" "00689" "00038442" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028970" "00689" "00038443" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028971" "00689" "00038444" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028972" "00689" "00038445" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028973" "00686" "00038446" "00818" "Familial" "" "" "1y11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028974" "00686" "00038447" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028975" "00686" "00038448" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028976" "00686" "00038449" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028977" "00686" "00038450" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028978" "00686" "00038451" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028979" "00692" "00038452" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028980" "00692" "00038453" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028981" "00689" "00038454" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028982" "00689" "00038455" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028983" "00689" "00038456" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028984" "00689" "00038457" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028985" "00694" "00038458" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028986" "00694" "00038459" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028987" "00694" "00038460" "00818" "Isolated (sporadic)" "" "21WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028988" "00694" "00038461" "00818" "Isolated (sporadic)" "" "28WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028989" "00686" "00038462" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028990" "00686" "00038463" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028991" "00686" "00038464" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028992" "00686" "00038465" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028993" "00686" "00038466" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028994" "04258" "00038467" "00818" "Isolated (sporadic)" "13y" "short stature, no 3rd and 4th toe shortening, no hearing loss, joint pain, see paper; progressive joint immobility, needed joint replacement surgery, progressive platyspondyly, progressive joint space narrowing, metaphyseal enlargement hands, no metatarsal shortening, ..." "18y" "" "" "" "" "" "" "" "" "" "" "" "" "osteoarthritis associated with mild spondyloepiphyseal involvement" "" "0000028995" "00686" "00038468" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028996" "00198" "00038469" "00818" "Unknown" "3y" "Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028997" "00686" "00038470" "00818" "Familial" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028998" "00686" "00038471" "00818" "Familial" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028999" "00686" "00038472" "00818" "Familial, autosomal dominant" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029000" "00687" "00038473" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029001" "00696" "00038474" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029002" "00687" "00038475" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029003" "00687" "00038476" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029004" "00693" "00038477" "00818" "Unknown" "" "early onset osteoarthritis, spondyloepiphyseal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029005" "00689" "00038478" "00818" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029006" "00686" "00038479" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029007" "00692" "00038480" "00818" "Isolated (sporadic)" "1d" "" "1d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029008" "00198" "00038481" "00818" "Familial, autosomal dominant" "" "Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029009" "00686" "00038482" "00818" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029010" "00689" "00038483" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029011" "00686" "00038484" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029012" "00699" "00038485" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029013" "00699" "00038486" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029014" "00686" "00038487" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029015" "00686" "00038488" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029016" "00689" "00038489" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029017" "00689" "00038490" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029018" "00686" "00038491" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029019" "00686" "00038492" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029020" "00688" "00038493" "00818" "Unknown" "" "17WG" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029021" "00686" "00038494" "00818" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029022" "00686" "00038495" "00818" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029023" "00198" "00038496" "00818" "Unknown" "" "Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029024" "00693" "00038497" "00818" "Familial, autosomal dominant" "24y" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029025" "00693" "00038498" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029026" "00693" "00038499" "00818" "Familial, autosomal dominant" "32y" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029027" "00693" "00038500" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029028" "00693" "00038501" "00818" "Familial, autosomal dominant" "" "early onset osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029166" "00198" "00038794" "00006" "Familial, autosomal dominant" "" "see paper; short stature, no 3rd and 4th toe shortening, no hearing loss, joint pain, progressive joint immobility, progressive platyspondyly, progressive joint space narrowing, metaphyseal enlargement hands, no metatarsal shortening, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "pseudorheumatoid skeletal dysplasia" "" "0000029167" "00198" "00038795" "00006" "Isolated (sporadic)" "" "see paper; no short stature, no 3rd and 4th toe shortening, no hearing loss, joint pain, progressive joint immobility, needed joint replacement surgery, progressive platyspondyly, >10y-progressive joint, space narrowing, 10y-no metaphyseal enlargement hands, no metatarsal shortening, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "pseudorheumatoid skeletal dysplasia" "" "0000029168" "00198" "00038738" "00006" "Isolated (sporadic)" "" "see paper; short stature, no 3rd and 4th toe shortening, no hearing loss, joint pain, progressive joint immobility, needed joint replacement surgery, progressive platyspondyly, progressive joint space narrowing, metaphyseal enlargement hands, no metatarsal shortening, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "pseudorheumatoid skeletal dysplasia" "" "0000036733" "00689" "00050129" "01396" "Unknown" "" "spondyloepiphyseal dysplasia congenita (SEDC) with coxa vara" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038127" "00689" "00051537" "01396" "Familial, autosomal dominant" "" "spondyloepiphyseal dysplasia congenita (SEDC) with coxa vara" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038128" "00689" "00051538" "01396" "Familial, autosomal dominant" "" "spondyloepiphyseal dysplasia congenita (SEDC) with coxa vara" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038131" "00688" "00051540" "01396" "Familial, autosomal dominant" "" "hypochondrogenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046741" "00689" "00060252" "01489" "Isolated (sporadic)" "03y" "SEDC-M with mild coxa vara" "02y" "" "" "" "" "02y" "" "" "" "" "" "" "" "" "" "0000060380" "00686" "00080811" "01758" "Familial, autosomal dominant" "" "Stickler syndrome, type I (OMIM:108300)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081944" "03381" "00104010" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087510" "00689" "00111426" "01489" "Isolated (sporadic)" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087514" "00198" "00111431" "01489" "Unknown" "?" "myopia, cleft palate, Pierre Robin sequence" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087515" "00689" "00111432" "01489" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087516" "00693" "00111433" "01489" "Familial, autosomal dominant" "" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087517" "00698" "00111434" "01489" "Familial, autosomal dominant" "03y06m" "severe myopia, cleft palate, Pierre Robin sequence" "" "" "" "" "" "03y06m" "" "" "" "" "" "" "" "" "" "0000087518" "00690" "00111655" "01489" "Familial" "39y" "scoliosis, hip dislocation, hip prothesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087519" "00686" "00111679" "01489" "Familial, autosomal dominant" "05y05m" "myopia, cleft palate" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087520" "00688" "00111680" "01489" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087521" "00198" "00111683" "01489" "Isolated (sporadic)" "00y05m" "type 2 collagenopathy" "" "" "" "" "" "00y05m" "" "" "" "" "" "" "" "" "" "0000087522" "00686" "00111684" "01489" "Familial, autosomal dominant" "10y" "myopia, astigmatism, joint hyperlaxity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087536" "00687" "00111694" "01489" "Isolated (sporadic)" "<00y00m" "" "<00y00m" "" "" "" "" "<00y00m" "intrauterin" "" "" "" "" "" "" "" "" "0000087537" "00689" "00111695" "01489" "Isolated (sporadic)" "<00y00m" "hygroma, malar hypoplasia" "<00y00m" "" "" "" "" "<00y00m" "" "" "" "" "" "" "" "" "" "0000087539" "00686" "00111697" "01489" "Isolated (sporadic)" "<00y00m" "anasarca, mircromelia" "<00y00m" "" "" "" "" "<00y00m" "" "" "" "" "" "" "" "" "" "0000087541" "00198" "00111699" "01489" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087542" "04258" "00111700" "01489" "Unknown" "" "bilateral hip prothesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087543" "00686" "00111701" "01489" "Unknown" "" "severe myopia, retinal detachment" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087545" "00686" "00111703" "01489" "Familial, autosomal dominant" "" "myopia, retinal detachment, Pierre Robin sequence" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090551" "00686" "00115070" "01489" "Familial, autosomal dominant" "09y" "severe myopia, retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090552" "00689" "00115072" "01489" "Unknown" "" "microretrognathia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090553" "00689" "00115073" "01489" "Isolated (sporadic)" "" "size -4SD, weight 10e percentile, Cranial perimeter +2.2SD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092582" "00686" "00117344" "01489" "Familial, autosomal dominant" "" "Pierre Robin sequence, cleft palate" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092583" "00686" "00117345" "01489" "Unknown" "06y" "cleft palate" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092584" "04257" "00117346" "01489" "Unknown" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092585" "00686" "00117348" "01489" "Familial, autosomal dominant" "" "myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092586" "00686" "00117349" "01489" "Familial, autosomal dominant" "" "cleft palate, microretrognatia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092587" "00686" "00117352" "01489" "Familial, autosomal dominant" "" "myopia, retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092588" "00686" "00117353" "01489" "Familial, autosomal dominant" "" "myopia, deafness, cleft palate, Pierre Robin sequence" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092589" "00689" "00117354" "01489" "Isolated (sporadic)" "06y04m" "bilateral hip osteochondritis, lordosis, sacrum agenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092590" "00686" "00117355" "01489" "Familial, autosomal dominant" "" "severe myopia, bilateral" "" "" "" "" "" "" "mbarat-houari" "" "" "" "" "" "" "" "" "0000092591" "00686" "00117356" "01489" "Isolated (sporadic)" "02y" "cleft palate, Pierre Robin sequence, deafness, myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092592" "00686" "00117358" "01489" "Familial, autosomal dominant" "02y" "deafness, severe myopia, cleft palate, Pierre Robin sequence" "" "" "" "" "" "" "mbarat-houari" "" "" "" "" "" "" "" "" "0000092593" "00686" "00117359" "01489" "Familial" "04y" "myopia, retinal detachment, joint hyperlaxity" "" "" "" "" "" "" "mbarat-houari" "" "" "" "" "" "" "" "" "0000092594" "04658" "00117360" "01489" "Familial, autosomal dominant" "" "brachydactyly" "" "" "" "" "" "08y" "" "" "" "" "" "" "" "" "" "0000092595" "00688" "00117361" "01489" "Unknown" "<00y00m00d" "" "<00y00m00d" "" "" "" "" "<00y00m00d" "" "" "" "" "" "" "" "" "" "0000092596" "00690" "00117362" "01489" "Isolated (sporadic)" "09y06m" "myopia, fangs agenesia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092598" "00688" "00117364" "01489" "Isolated (sporadic)" "<00y00m00d" "" "<00y00m00d" "" "" "" "" "<00y00m00d" "" "" "" "" "" "" "" "" "" "0000092600" "00690" "00117366" "01489" "Familial, autosomal dominant" "02y03m" "disproportional short stature, short neck, pectus carinatum, genu varum, bilateral pes planus, and obvious waddling gait" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092601" "00689" "00117367" "01489" "Unknown" "" "significant platyspondyly,\r\nshortening of long bones with ragged metaphyses, mild iliac\r\nhypoplasia and delayed ossification of femur heads." "<00y00m00d" "" "" "" "" "<00y00m00d" "" "" "" "" "" "" "" "" "" "0000092602" "00686" "00117368" "01489" "Familial, autosomal dominant" "42y" "myopia, avascular sheets, scoliosis, cataract, retinal detachment, chorioretinal scars, optically empty vitreous" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092603" "00686" "00117369" "01489" "Unknown" "07y" "midface hypoplasia, depressed nasal bridge, micrognathia, thick lips, and wide mouth,\r\ncorneal opacity, high myopia and left chronic uveitis, vitreous changes and ptosis \r\nmoderate platyspondyly, proximal femora metaphyseal broadening, diffuse osteopenia at the epiphysis of bilateral femora and tibiae, mild flattening of the distal femoral epiphyses, brachydactyly of fingers and toes." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092604" "00689" "00117370" "01489" "Familial, autosomal dominant" "00y20m" "short stature, flattened face,\r\ncleft palate, micrognathia, short neck, and umbilical hernia, oval-shaped vertebral bodies, absence of femoral head ossification, tubular shape of teh Long bones with metaphyseal flaring" "" "" "" "" "" "00y20m" "" "" "" "" "" "" "" "" "" "0000092612" "00686" "00117380" "01489" "Familial, autosomal dominant" "14y" "" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092613" "00686" "00117381" "01489" "Familial, autosomal dominant" "10y" "" "03y" "" "" "" "" "09y" "" "" "" "" "" "" "" "" "" "0000092614" "00686" "00117382" "01489" "Isolated (sporadic)" "17y" "" "14y" "" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "0000092615" "00686" "00117383" "01489" "Isolated (sporadic)" "15y" "" "10y" "" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000092619" "00686" "00117384" "01489" "Familial" "36y" "" "05y" "" "" "" "" "30y" "" "" "" "" "" "" "" "" "" "0000092620" "00686" "00117385" "01489" "Familial" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092621" "00686" "00117386" "01489" "Familial" "14y" "" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092622" "04224" "00117387" "01489" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092623" "00686" "00117388" "01489" "Familial, autosomal dominant" "38y" "" "40y" "" "" "" "" "40y" "" "" "" "" "" "" "" "" "" "0000092624" "00686" "00117389" "01489" "Familial" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092625" "00686" "00117390" "01489" "Isolated (sporadic)" "27y" "" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092626" "00686" "00117391" "01489" "Familial" "10y" "" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092627" "00686" "00117392" "01489" "Familial" "10y" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092628" "00686" "00117393" "01489" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092629" "00686" "00117394" "01489" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092630" "00686" "00117395" "01489" "Familial, autosomal dominant" "10y" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092631" "00686" "00117396" "01489" "Familial, autosomal dominant" "47y" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092632" "00686" "00117397" "01489" "Familial, autosomal dominant" "35y" "" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092633" "00686" "00117398" "01489" "Familial, autosomal dominant" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092634" "00198" "00117399" "01489" "Unknown" "07y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092635" "00198" "00117400" "01489" "Unknown" "03y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092636" "00198" "00117401" "01489" "Unknown" "08y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092637" "00198" "00117402" "01489" "Unknown" "07y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092638" "00198" "00117403" "01489" "Unknown" "05y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092640" "00198" "00117405" "01489" "Unknown" "11y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092641" "00198" "00117406" "01489" "Unknown" "06y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092642" "00198" "00117407" "01489" "Unknown" "05y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092643" "00198" "00117408" "01489" "Unknown" "08y" "early-onset myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000092689" "00686" "00117455" "01489" "Isolated (sporadic)" "29y" "myopia, membranous congenital vitreous anomaly, retinal detachment, perivascular retinal degeneration, Midfacial dysplasia" "28y" "" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "0000092690" "00686" "00117456" "01489" "Familial, autosomal dominant" "06y" "myopia, catarcat, retinal detachment, giant retinal tear, midfacial dysplasia" "01y06m" "" "" "" "" "01y06m" "1y6m" "" "" "" "" "" "" "" "" "0000092691" "00686" "00117457" "01489" "Familial, autosomal dominant" "06y" "myopia, membranous congenital vitreous anomaly, retinal detachment, epiphysial dysplasia of both wrists, midfacial dysplasia" "" "" "" "" "" "06y" "" "" "" "" "" "" "" "" "" "0000092692" "00686" "00117458" "01489" "Familial, autosomal dominant" "31y" "myopia, catarcat, membranous congenital vitreous anomaly, retinal detachment, giant retinal tear, midfacial dysplasia" "07y" "" "" "" "" "27y" "" "" "" "" "" "" "" "" "" "0000092693" "00686" "00117460" "01489" "Familial, autosomal dominant" "04y" "myopia, membranous congenital vitreous anomaly, midfacial dysplasia" "" "" "" "" "" "03y05m" "" "" "" "" "" "" "" "" "" "0000092694" "00686" "00117463" "01489" "Isolated (sporadic)" "15y" "myopia, membranous congenital vitreous anomaly, midfacial dysplasia" "" "" "" "" "" "06y" "" "" "" "" "" "" "" "" "" "0000092695" "00692" "00117464" "01489" "Familial, autosomal dominant" "50y" "Odontoid process hypoplasia, Platyspondyly, Atlantoaxial subluxation, Shoulder OA, hip deformation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092696" "00689" "00117465" "01489" "Isolated (sporadic)" "20y" "Short-trunk stature dwarfism, short neck, pectus carinatum, mild kyphosis, severe lumbar lordosis with limited spine mobility, adduction deformity of hips, enlarged and valgus deformity of bilateral knees, paresis of lower limbs." "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092697" "00689" "00117467" "01489" "Isolated (sporadic)" "11y" "large head and shortening deformity of extremities at birth, growth delay,disproportionately short statue, large head, short neck, shortening of the long arms, pectus carinatum, rachitic rosary, scoliosis and kyphosis, myopia, anterior wedging of the vertebral bodies, scoliosis,kyphosis, flattening of the acetabular roof, irregular shaped and shattered metaphyseal region of proximal femurs, and wedge-shaped distal epiphysis of ulna and radius" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092698" "00689" "00117468" "01489" "Isolated (sporadic)" "15y" "short-trunk stature at birth, obvious and progressive growth retardation at age 2, genu valgum and eversion of feet since 4 years old, duck gait, lower limb movement difficulties, pectus carinatum, scoliosis, kyphosis, platyspondyly, wedging-shaped\r\nvertebral bodies with wormhole-like edges, scoliosis, flattening of the acetabular roof and dysplasia of bilateral femoral heads." "02y" "" "" "" "" "02y" "0y" "" "" "" "" "" "" "" "" "0000092731" "00689" "00117469" "01489" "Isolated (sporadic)" "00y09m" "short stature (51 cm), flattened facies, pectus carinatum, rhizomelia, limited range of motion in both elbows, left inguinal hernia, generalized delay in ossification (retarded ossification of the pubic bone, femoral heads, necks, knees and a short iliac bone), short long bones of the femurs and humeri, broad and bell-shaped thorax and anterior ends of the ribs showed flaring." "00y00m" "" "" "" "" "00y09m" "" "" "" "" "" "" "" "" "" "0000092732" "00689" "00117470" "01489" "Isolated (sporadic)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092784" "00689" "00117471" "01489" "Familial, autosomal dominant" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092785" "00690" "00117472" "01489" "Isolated (sporadic)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092943" "00689" "00117473" "01489" "Isolated (sporadic)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092975" "00689" "00117505" "01489" "Familial, autosomal dominant" "08y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092976" "00690" "00117506" "01489" "Isolated (sporadic)" "00y09m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092977" "00689" "00117507" "01489" "Isolated (sporadic)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092978" "00689" "00117508" "01489" "Isolated (sporadic)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092996" "00689" "00117526" "01489" "Isolated (sporadic)" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144018" "05479" "00183270" "00006" "Isolated (sporadic)" "00y00m01d" "admitted to neonatal intensive care unit due to severe tachypnea, dyspnea, subcostal retraction; physical examination showed body length 38cm (<3 percentile), body weight 2755gm (3-15 percentile), head circumference 36 cm (85-97 percentile), arm span 36 cm, pseudo low-set ears, mid-facial hypoplasia, anteverted nostrils, cleft palate, micrognathia, short neck, narrow chest cavity with bulging anterior chest, prominent abdomen, bilateral simian crease, clinodactyly of bilateral 5th fingers, bilateral clubfoot; radiographs revealed short ribs, short and broad long bones, lack of ossification pine and pelvis" "" "" "" "" "" "" "" "" "" "" "" "" "ACG-2" "" "" "0000156106" "00198" "00035301" "01164" "Unknown" "" "MGZ #76672: delayed development (cause vague), suspected Stickler syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000156107" "00198" "00035313" "01164" "Unknown" "" "MGZ #65134: suspected Stickler syndrome; MGZ #21709: familiar short stature, arthrosis; MGZ #76672: delayed development (cause vague), suspected Stickler syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157423" "00198" "00208812" "01164" "Unknown" "" "HP:0001367 (Abnormal joint morphology); HP:0000175 (Cleft palate); HP:0000201 (Pierre-Robin sequence); HP:0002829 (Arthralgia); HP:0012373 (Abnormal eye physiology); HP:0000202 (Oral cleft); HP:0000153 (Abnormality of the mouth); HP:0000364 (Hearing abnormality); HP:0000365 (Hearing impairment); HP:0000501 (Glaucoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210206" "00198" "00275586" "01807" "Unknown" "" "Micrognathia (HP:0000347); Talipes equinovarus (HP:0001762); Short long bone (HP:0003026); Short lower limbs (HP:0006385); Disproportionate short-limb short stature (HP:0008873)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224267" "00198" "00296870" "01164" "Unknown" "" "Mesiodens (HP:0011067); Increased number of teeth (HP:0011069); Abnormality of the palate (HP:0000174); Cleft palate (HP:0000175); Abnormality of the inner ear (HP:0000359); Sensorineural hearing impairment (HP:0000407); Abnormality of the lens (HP:0000517); Cataract (HP:0000518)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233428" "00198" "00308005" "01164" "Unknown" "" "Cleft palate (HP:0000175); Severe Myopia (HP:0011003); Retinal detachment (HP:0000541)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000234427" "04214" "00309107" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000234428" "04214" "00309108" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000242310" "00688" "00320269" "01164" "Unknown" "" "(+) Abnormality of the thorax,(+) Deformed rib cage,(+) Abnormality of the skeletal system,(+) Wrist flexion contracture,(+) Bell-shaped thorax,(+) Bilateral talipes equinovarus,(+) Skeletal dysplasia,(+) Abnormality of limb bone morphology,(+) Talipes cavus equinovarus,(+) Multiple skeletal anomalies,(+) Aplasia/hypoplasia involving the skeleton,(+) Limb undergrowth,(+) Abnormality of joint mobility,(+) Abnormality of skeletal morphology,(+) Abnormality of skeletal physiology,(+) Bilateral wrist flexion contracture,(+) Abnormality of limb bone,(+) Contractures of the joints of the upper limbs" "" "" "" "" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000244354" "00198" "00325867" "01807" "Unknown" "" "Bifid uvula (HP:0000193); Retrognathia (HP:0000278); Myopia (HP:0000545)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000246574" "04214" "00328348" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246575" "04214" "00328349" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246576" "04214" "00328350" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246577" "04214" "00328351" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246578" "04214" "00328352" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246579" "04214" "00328353" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246580" "04214" "00328354" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246581" "04214" "00328355" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246582" "04214" "00328356" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246583" "04214" "00328357" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246584" "04214" "00328358" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246585" "04214" "00328359" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246586" "04214" "00328360" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246587" "04214" "00328361" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246588" "04214" "00328362" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246589" "04214" "00328363" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000249569" "05517" "00331377" "00000" "Familial, autosomal dominant" "" "Tractional retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249570" "05517" "00331378" "00000" "Familial, autosomal dominant" "" "Disproportionate short stature, Scoliosis, Metaphyseal dysplasia, Inguinal hernia, Myopia Yes" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249571" "05517" "00331379" "00000" "Familial, autosomal dominant" "" "Non-Arab ( Short stature, Frontal bossing, Plagiocephaly, Short neck, Failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249572" "05517" "00331380" "00000" "Familial, autosomal dominant" "" "Non-Arab ( Osteopenia, Kyphosis, Plagiocephaly, Recurrent fractures" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249573" "05517" "00331381" "00000" "Familial, autosomal dominant" "" "Skeletal dysplasia, Short stature" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000249574" "05517" "00331382" "00000" "Familial, autosomal dominant" "" "Inflammatory abnormality of the skin, Finger swelling" "" "" "" "" "" "" "" "" "" "" "" "" "collagen group, type 2" "skeletal dysplasia" "" "0000251967" "04214" "00333783" "00000" "Familial, autosomal dominant" "37y" "clinical category IIIE1" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler\'s syndrome" "" "0000251968" "04214" "00333784" "00000" "Familial, autosomal dominant" "13y" "clinical category IIIE1" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler\'s syndrome" "" "0000251969" "04214" "00333785" "00000" "Familial, autosomal dominant" "11y" "clinical category IIIE1" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler\'s syndrome" "" "0000258695" "04214" "00363330" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258702" "04214" "00363337" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267000" "00686" "00371663" "01164" "Familial, autosomal dominant" "" "(+) Hydronephrosis,(+) Hearing abnormality,(+) Hearing impairment,(+) Abnormality of the lens,(+) Cataract,(+) Abnormality of refraction,(+) Myopia,(+) Abnormality of prenatal development or birth,(+) Abnormal joint morphology,(+) Arthritis,(+) Flexion contracture,(+) Abnormality of the hip joint,(+) Premature birth,(+) Arthralgia,(+) Limb joint contracture,(+) Dilatation of the renal pelvis,(+) High myopia,(+) Pain,(+) Abnormal tendon morphology,(+) Abnormality of lower limb joint; Grandfather (paternal side) also affected" "" "" "" "" "" "" "" "" "" "" "" "" "" "15y" "" "0000269318" "00198" "00374107" "00006" "Isolated (sporadic)" "<0d" "19w-fetus, ultrasound intrauterine growth retardation, shortened long bones, unilateral hydronephrosis; autopsy Severe micromelic nanism, corpus callosum agenesis, right hydronephrosis; atypical phenotype, unusual corpus callosum agenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000273325" "04214" "00379452" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273326" "04214" "00379453" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273327" "04214" "00379454" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273328" "04214" "00379455" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273329" "04214" "00379456" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273330" "04214" "00379457" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273331" "04214" "00379458" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273332" "04214" "00379459" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273333" "04214" "00379460" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273334" "04214" "00379461" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273335" "04214" "00379462" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273336" "04214" "00379463" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273337" "04214" "00379464" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273338" "04214" "00379465" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273339" "04214" "00379466" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273340" "04214" "00379467" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000275976" "00686" "00382134" "00000" "Familial, autosomal dominant" "" "retinal dystrophy; MIM, 108300 or 609508" "" "" "" "" "" "" "" "" "" "" "" "" "" "MIM, 108300 or 609508" "" "0000278032" "00198" "00384247" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000278164" "04214" "00384379" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia+retinal detachment" "" "0000278185" "04214" "00384400" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment+high myopia" "" "0000278269" "04214" "00384484" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment+high myopia" "" "0000278280" "04214" "00384495" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000279212" "04214" "00385416" "00000" "Familial, autosomal dominant" "60y" "60" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Stickler syndrome" "" "0000279263" "04214" "00385468" "00000" "Familial, autosomal dominant" "" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataracts" "" "0000280542" "04214" "00386742" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281188" "04214" "00387625" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "High myopia and retinal detachment and short stature" "Adult retinal dystrophy" "" "0000283571" "04214" "00390031" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa with early-onset primary angle closure glaucoma" "retinitis pigmentosa with early-onset primary angle closure glaucoma" "" "0000283574" "04214" "00390034" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa with early-onset primary angle closure glaucoma" "retinitis pigmentosa with early-onset primary angle closure glaucoma" "" "0000295575" "00689" "00402814" "04264" "Familial, autosomal dominant" "16y" "Severe short stature(HP:0003510),Autosomal dominant inheritance (HP:0000006);Waddling gait(HP:0002515);Spondyloepiphyseal dysplasia(HP:0002655);Genu valgum(HP:0002857);Reduced bone mineral density(HP:0004349);C1-C2 vertebral abnormality (HP:0008440)" "00y06m" "" "" "" "" "16y" "C1-C2 vertebral abnormality (HP:0008440)" "COL2A1" "" "" "" "" "SEDC" "type II collagenopathies" "" "0000302688" "00198" "00410585" "00006" "Unknown" "" "see paper; ..., onset adulthood, bilateral avascular necrosis hip, avascular necrosis shoulder, no family history" "" "" "" "" "" "" "" "" "" "" "" "" "ANFH1" "" "" "0000308536" "04224" "00417026" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308552" "04224" "00417042" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308567" "04224" "00417057" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308569" "00198" "00417059" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308579" "04224" "00417069" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308585" "00198" "00417075" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308589" "04224" "00417079" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308592" "00198" "00417082" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308599" "00198" "00417089" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308608" "04224" "00417098" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000308631" "00692" "00417121" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "spondyloperipheral dysplasia" "" "0000308658" "04224" "00417148" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000310780" "00198" "00419499" "02300" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310781" "00198" "00419500" "02300" "Isolated (sporadic)" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310893" "00198" "00419612" "02300" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000322356" "00169" "00431787" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "vascular EDS syndrome" "" "0000322357" "04224" "00431788" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000322359" "04224" "00431790" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000322360" "04224" "00431791" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000322370" "00169" "00431801" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "vascular EDS syndrome" "" "0000322375" "00198" "00431806" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322392" "00198" "00431823" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000330304" "00198" "00440394" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stanescu type of spondyloepiphyseal dysplasia (MIM #616583)" "" "" "0000330951" "05086" "00441513" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000333338" "00689" "00444086" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333339" "00689" "00444087" "01411" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333342" "00689" "00444088" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333343" "00689" "00444089" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333344" "00689" "00444090" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333345" "00689" "00444091" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333347" "00689" "00444092" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333348" "00689" "00444093" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333349" "00689" "00444094" "01411" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333350" "00689" "00444095" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333351" "04224" "00444096" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333432" "04224" "00444180" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333433" "04224" "00444181" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333434" "04224" "00444182" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333435" "04224" "00444183" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333436" "04224" "00444184" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333437" "04224" "00444185" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333440" "04224" "00444188" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome/Pierre-Robin sequence" "" "0000333441" "04224" "00444189" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333442" "04224" "00444190" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333443" "04224" "00444191" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333444" "04224" "00444192" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333445" "04224" "00444193" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333446" "04224" "00444194" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333447" "04224" "00444195" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333448" "04224" "00444196" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333449" "04224" "00444197" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333451" "04224" "00444199" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333453" "04224" "00444201" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000333454" "04224" "00444202" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "Stickler syndrome" "" "0000334287" "00296" "00445035" "00006" "Familial, autosomal dominant" "" "bilateral cataract, Stickler syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "cataract" "" "0000334288" "00296" "00445036" "00006" "Familial, autosomal dominant" "" "bilateral cataract, Stickler syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "STL1" "cataract" "" "0000336757" "00198" "00447558" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000347563" "05517" "00459487" "04787" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000347616" "05611" "00459539" "00006" "Isolated (sporadic)" "05y" "see paper; ..., pregnancy complicated by maternal kidney stones, hyperemesis; birth-37w cesarean section, weight 3580g (75th), length 56cm (50th), OFC 34cm (25th-50th); no congenital anomalies, no dysmorphic features; feeding difficulties, constipation, frequent infections, slightly raised body temperature, allergy to cow\'s milk; intellectual disability; developmental delay, autistic features; hypotonia; increased immunoglobulin E; 13m-delayed teeth eruption; neurologic sensory; MRI normal non-contrast; no muskuloskeletal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000352050" "04184" "00466687" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., small for gestational age, frequent otitis media acuta;, genua valga, advanced bone age (+3.4y); height SDS-2.76; birth weight SDS-2.56, length SDS-4.14" "" "" "" "" "" "" "" "" "" "" "" "" "" "short stature" "" "0000352062" "04184" "00466699" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., small for gestational age, growth hormone deficiency, microcephaly; height SDS-3.47; birth weight SDS-2.39, length SDS-3.00" "" "" "" "" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1020 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024270" "00024278" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2012-01-28 14:01:54" "Southern;SEQ" "DNA" "" "" "0000024271" "00024279" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "SEQ" "DNA" "" "" "0000024272" "00024280" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "SEQ" "DNA" "" "" "0000024273" "00024281" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "PCRdig" "DNA" "" "" "0000024274" "00024282" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "SEQ;SSCA" "DNA;RNA" "" "" "0000024275" "00024283" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024276" "00024284" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024277" "00024285" "1" "00006" "00006" "2012-01-08 15:07:53" "00818" "2012-03-21 10:49:31" "SEQ" "DNA" "" "" "0000024278" "00024286" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024279" "00024287" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024280" "00024288" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024281" "00024289" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024282" "00024290" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024283" "00024291" "1" "00006" "00006" "2012-01-08 15:07:53" "01489" "2017-09-01 10:13:09" "SEQ" "DNA" "blood" "" "0000024284" "00024292" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024285" "00024293" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024286" "00024294" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024287" "00024295" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024288" "00024296" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024289" "00024297" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024290" "00024298" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024291" "00024299" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024292" "00024300" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000024293" "00024301" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000024294" "00024302" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024295" "00024303" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024296" "00024304" "1" "00006" "00006" "2012-01-08 15:07:53" "00006" "2014-11-16 17:07:53" "SEQ" "DNA;RNA" "" "" "0000024297" "00024305" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024298" "00024306" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024299" "00024307" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024300" "00024308" "1" "00818" "00006" "2012-01-08 15:07:53" "00818" "2013-04-12 15:58:06" "DGGE;SEQ" "DNA" "" "" "0000024301" "00024309" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024302" "00024310" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024303" "00024311" "1" "00006" "00006" "2012-01-08 15:07:53" "00818" "2012-03-09 10:48:55" "EMC;SEQ" "DNA" "" "" "0000024304" "00024312" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" "0000024305" "00024313" "1" "00006" "00006" "2012-01-08 15:07:53" "00818" "2013-08-30 16:29:16" "SEQ" "DNA" "" "" "0000024306" "00024314" "1" "00006" "00006" "2012-01-08 15:07:53" "" "" "SEQ" "DNA" "" "" 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"" "0000038679" "00038445" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038680" "00038446" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038681" "00038447" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038682" "00038448" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038683" "00038449" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038684" "00038450" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038685" "00038451" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038686" "00038452" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038687" "00038453" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038688" "00038454" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038689" "00038455" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038690" "00038456" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038691" "00038457" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038692" "00038458" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038693" "00038459" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038694" "00038460" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038695" "00038461" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038696" "00038462" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038697" "00038463" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038698" "00038464" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038699" "00038465" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038700" "00038466" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038701" "00038467" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038702" "00038468" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038703" "00038469" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038704" "00038470" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038705" "00038471" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038706" "00038472" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038707" "00038473" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038708" "00038474" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038709" "00038475" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038710" "00038476" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038711" "00038477" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "CSCE;SEQ" "DNA" "" "" "0000038712" "00038478" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038713" "00038479" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "RT-PCR" "RNA" "" "" "0000038714" "00038480" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038715" "00038481" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038716" "00038482" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038717" "00038483" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038718" "00038484" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038719" "00038485" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038720" "00038486" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038721" "00038487" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038722" "00038488" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038723" "00038489" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038724" "00038490" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038725" "00038491" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038726" "00038492" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038727" "00038493" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038728" "00038494" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038729" "00038495" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038730" "00038496" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038731" "00038497" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038732" "00038498" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038733" "00038499" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038734" "00038500" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038735" "00038501" "1" "00818" "00818" "2015-05-08 18:28:06" "" "" "SEQ" "DNA" "" "" "0000038972" "00038738" "1" "01305" "01305" "2015-05-29 16:33:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000039031" "00038794" "1" "01305" "01305" "2015-06-08 17:38:04" "00006" "2015-06-11 16:09:53" "SEQ;SEQ-NG" "DNA" "" "" "0000039032" "00038795" "1" "01305" "01305" "2015-06-08 17:44:37" "" "" "MLPA;SEQ" "DNA" "" "" "0000050076" "00050129" "1" "01396" "01396" "2015-09-24 17:57:36" "" "" "SEQ" "DNA" "" "" "0000051484" "00051537" "1" "01396" "01396" "2015-10-01 16:25:21" "" "" "SEQ" "DNA" "" "" "0000051485" "00051538" "1" "01396" "01396" "2015-10-01 16:39:53" "" "" "SEQ" "DNA" "" "" "0000051489" "00051540" "1" "01396" "01396" "2015-10-01 17:16:19" "" "" "SEQ" "DNA" "" "" "0000060235" "00060252" "1" "01489" "01489" "2016-03-21 17:20:33" "00006" "2019-07-21 20:11:29" "SEQ" "DNA" "Blood" "" "0000080923" "00080811" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104481" "00104010" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000111890" "00111426" "1" "01489" "01489" "2017-08-03 12:36:00" "" "" "SEQ" "DNA" "blood" "" "0000111895" "00111431" "1" "01489" "01489" "2017-08-03 14:47:19" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000111896" "00111432" "1" "01489" "01489" "2017-08-03 15:04:55" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000111897" "00111433" "1" "01489" "01489" "2017-08-03 15:17:21" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000111898" "00111434" "1" "01489" "01489" "2017-08-03 15:41:19" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112129" "00111655" "1" "01489" "01489" "2017-08-03 16:12:23" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112140" "00111679" "1" "01489" "01489" "2017-08-03 16:20:50" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112141" "00111680" "1" "01489" "01489" "2017-08-03 16:33:41" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112142" "00111683" "1" "01489" "01489" "2017-08-03 16:42:43" "" "" "SEQ" "DNA" "blood" "gene panel" "0000112143" "00111684" "1" "01489" "01489" "2017-08-03 16:49:12" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112152" "00111694" "1" "01489" "01489" "2017-08-04 10:13:17" "01489" "2017-08-04 10:27:41" "SEQ-NG-I" "DNA" "amniotic fluid" "gene panel" "0000112153" "00111695" "1" "01489" "01489" "2017-08-04 10:23:21" "01489" "2017-08-04 11:05:30" "SEQ-NG-I" "DNA" "amniotic fluid" "gene panel" "0000112155" "00111697" "1" "01489" "01489" "2017-08-04 11:09:55" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000112157" "00111699" "1" "01489" "01489" "2017-08-04 11:30:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000112158" "00111700" "1" "01489" "01489" "2017-08-04 11:40:30" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112159" "00111701" "1" "01489" "01489" "2017-08-04 12:04:24" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000112161" "00111703" "1" "01489" "01489" "2017-08-04 12:20:22" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000115526" "00115069" "1" "01489" "01489" "2017-08-07 17:54:30" "" "" "SEQ" "DNA" "blood" "" "0000115527" "00115070" "1" "01489" "01489" "2017-08-07 18:05:28" "" "" "SEQ" "DNA" "blood" "" "0000115529" "00115072" "1" "01489" "01489" "2017-08-07 18:13:53" "" "" "SEQ" "DNA" "" "" "0000115530" "00115073" "1" "01489" "01489" "2017-08-07 18:22:05" "" "" "SEQ" "DNA" "" "" "0000117600" "00117140" "1" "01489" "01489" "2017-08-11 16:57:54" "" "" "SEQ" "DNA" "blood" "gene panel" "0000117601" "00117141" "1" "01489" "01489" "2017-08-11 17:06:08" "" "" "SEQ" "DNA" "blood" "" "0000117810" "00117342" "1" "01489" "01489" "2017-08-21 10:41:18" "" "" "SEQ" "DNA" "" "" "0000117811" "00117344" "1" "01489" "01489" "2017-08-21 10:47:57" "" "" "SEQ" "DNA" "blood" "" "0000117812" "00117345" "1" "01489" "01489" "2017-08-21 11:06:31" "" "" "SEQ" "DNA" "" "" "0000117813" "00117346" "1" "01489" "01489" "2017-08-21 11:22:37" "" "" "SEQ" "DNA" "blood" "" "0000117815" "00117348" "1" "01489" "01489" "2017-08-21 12:17:25" "" "" "SEQ" "DNA" "blood" "" "0000117816" "00117349" "1" "01489" "01489" "2017-08-21 12:23:53" "" "" "SEQ" "DNA" "" "" "0000117817" "00117351" "1" "01489" "01489" "2017-08-21 12:35:24" "" "" "SEQ" "DNA" "fœtal" "" "0000117818" "00117352" "1" "01489" "01489" "2017-08-21 15:52:01" "" "" "SEQ" "DNA" "blood" "" "0000117819" "00117353" "1" "01489" "01489" "2017-08-21 15:57:17" "" "" "SEQ" "DNA" "" "" "0000117820" "00117354" "1" "01489" "01489" "2017-08-21 16:04:36" "" "" "SEQ" "DNA" "" "" "0000117821" "00117355" "1" "01489" "01489" "2017-08-21 16:10:13" "01489" "2017-08-21 16:11:52" "SEQ" "DNA" "blood" "mbarat-houari" "0000117822" "00117356" "1" "01489" "01489" "2017-08-21 16:16:07" "" "" "SEQ" "DNA" "blood" "" "0000117823" "00117358" "1" "01489" "01489" "2017-08-21 16:20:23" "" "" "SEQ" "DNA" "blood" "" "0000117824" "00117359" "1" "01489" "01489" "2017-08-21 16:32:43" "" "" "SEQ" "DNA" "blood" "" "0000117825" "00117360" "1" "01489" "01489" "2017-08-21 16:45:28" "" "" "SEQ-NG-I" "DNA" "blood" "gene" "0000117826" "00117361" "1" "01489" "01489" "2017-08-21 17:02:04" "01489" "2017-08-21 17:08:21" "SEQ" "DNA" "foetal" "mbarat-houari" "0000117827" "00117362" "1" "01489" "01489" "2017-08-21 17:19:37" "" "" "SEQ" "DNA" "blood" "" "0000117829" "00117364" "1" "01489" "01489" "2017-08-21 17:30:00" "" "" "SEQ-NG-I" "DNA" "fœtal" "" "0000117831" "00117366" "1" "01489" "01489" "2017-08-22 16:09:58" "00006" "2017-08-24 12:02:38" "SEQ-NG" "DNA" "blood" "WES" "0000117832" "00117367" "1" "01489" "01489" "2017-08-22 16:35:30" "" "" "SEQ" "DNA" "blood" "" "0000117833" "00117368" "1" "01489" "01489" "2017-08-22 17:38:53" "01489" "2017-08-22 18:55:40" "SEQ-NG" "DNA" "blood" "WES" "0000117834" "00117369" "1" "01489" "01489" "2017-08-22 18:12:37" "00006" "2017-08-25 10:02:40" "?" "DNA" "blood" "" "0000117835" "00117370" "1" "01489" "01489" "2017-08-22 18:46:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117844" "00117380" "1" "01489" "01489" "2017-08-25 18:24:01" "" "" "SEQ" "DNA" "blood" "" "0000117845" "00117381" "1" "01489" "01489" "2017-08-25 18:34:32" "" "" "SEQ" "DNA" "blood" "" "0000117846" "00117382" "1" "01489" "01489" "2017-08-25 18:39:56" "" "" "SEQ" "DNA" "blood" "" "0000117847" "00117383" "1" "01489" "01489" "2017-08-25 18:53:19" "" "" "SEQ" "DNA" "blood" "" "0000117849" "00117384" "1" "01489" "01489" "2017-08-28 11:17:20" "" "" "SEQ" "DNA" "blood" "" "0000117850" "00117385" "1" "01489" "01489" "2017-08-28 12:16:29" "" "" "SEQ" "DNA" "blood" "" "0000117851" "00117386" "1" "01489" "01489" "2017-08-28 12:28:14" "" "" "SEQ" "DNA" "blood" "" "0000117852" "00117387" "1" "01489" "01489" "2017-08-28 12:33:53" "" "" "SEQ" "DNA" "blood" "" "0000117853" "00117388" "1" "01489" "01489" "2017-08-28 14:36:06" "" "" "SEQ" "DNA" "blood" "" "0000117854" "00117389" "1" "01489" "01489" "2017-08-28 14:40:47" "" "" "SEQ" "DNA" "blood" "" "0000117855" "00117390" "1" "01489" "01489" "2017-08-28 14:49:57" "" "" "SEQ" "DNA" "blood" "" "0000117856" "00117391" "1" "01489" "01489" "2017-08-28 14:54:52" "" "" "SEQ" "DNA" "blood" "" "0000117857" "00117392" "1" "01489" "01489" "2017-08-28 15:09:39" "" "" "SEQ" "DNA" "blood" "" "0000117858" "00117393" "1" "01489" "01489" "2017-08-28 15:13:48" "" "" "SEQ" "DNA" "blood" "" "0000117859" "00117394" "1" "01489" "01489" "2017-08-28 15:20:19" "" "" "SEQ" "DNA" "blood" "" "0000117860" "00117395" "1" "01489" "01489" "2017-08-28 15:24:07" "" "" "SEQ" "DNA" "blood" "" "0000117861" "00117396" "1" "01489" "01489" "2017-08-28 15:34:21" "" "" "SEQ" "DNA" "blood" "" "0000117862" "00117397" "1" "01489" "01489" "2017-08-28 15:39:38" "" "" "SEQ" "DNA" "blood" "" "0000117863" "00117398" "1" "01489" "01489" "2017-08-28 15:43:17" "" "" "SEQ" "DNA" "blood" "" "0000117864" "00117399" "1" "01489" "01489" "2017-08-28 16:55:01" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117865" "00117400" "1" "01489" "01489" "2017-08-28 17:59:21" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117866" "00117401" "1" "01489" "01489" "2017-08-28 18:03:23" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117867" "00117402" "1" "01489" "01489" "2017-08-28 18:07:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117868" "00117403" "1" "01489" "01489" "2017-08-28 18:11:39" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117870" "00117405" "1" "01489" "01489" "2017-08-28 18:21:11" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117871" "00117406" "1" "01489" "01489" "2017-08-28 18:28:45" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117872" "00117407" "1" "01489" "01489" "2017-08-28 18:32:13" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117873" "00117408" "1" "01489" "01489" "2017-08-28 18:38:08" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117919" "00117455" "1" "01489" "01489" "2017-08-31 12:05:35" "" "" "SEQ" "DNA" "blood" "" "0000117920" "00117456" "1" "01489" "01489" "2017-08-31 12:15:36" "" "" "SEQ" "RNA" "blood" "" "0000117921" "00117457" "1" "01489" "01489" "2017-08-31 12:40:31" "" "" "SEQ" "DNA" "blood" "" "0000117922" "00117458" "1" "01489" "01489" "2017-08-31 12:48:27" "" "" "SEQ" "DNA" "blood" "" "0000117925" "00117460" "1" "01489" "01489" "2017-08-31 14:34:38" "" "" "SEQ" "DNA" "blood" "" "0000117926" "00117463" "1" "01489" "01489" "2017-08-31 15:04:21" "" "" "SEQ" "DNA" "blood" "" "0000117927" "00117464" "1" "01489" "01489" "2017-08-31 15:23:17" "" "" "SEQ" "DNA" "saliva" "" "0000117928" "00117465" "1" "01489" "01489" "2017-08-31 17:58:41" "" "" "SEQ" "DNA" "blood" "" "0000117929" "00117467" "1" "01489" "01489" "2017-08-31 18:12:34" "" "" "SEQ" "DNA" "blood" "" "0000117930" "00117468" "1" "01489" "01489" "2017-09-01 10:13:29" "" "" "SEQ" "DNA" "blood" "" "0000117931" "00117469" "1" "01489" "01489" "2017-09-01 11:47:03" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000117933" "00117470" "1" "01489" "01489" "2017-09-01 12:32:13" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117934" "00117471" "1" "01489" "01489" "2017-09-01 12:40:28" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117935" "00117472" "1" "01489" "01489" "2017-09-01 12:45:03" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117936" "00117473" "1" "01489" "01489" "2017-09-01 14:07:12" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117968" "00117505" "1" "01489" "01489" "2017-09-01 15:02:10" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117969" "00117506" "1" "01489" "01489" "2017-09-01 15:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117970" "00117507" "1" "01489" "01489" "2017-09-01 15:10:18" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117971" "00117508" "1" "01489" "01489" "2017-09-01 15:14:02" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000117989" "00117526" "1" "01489" "01489" "2017-09-01 15:19:38" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000132903" "00132064" "1" "01396" "01396" "2017-10-18 18:00:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000132904" "00132065" "1" "01396" "01396" "2017-10-18 18:04:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000132905" "00132066" "1" "01396" "01396" "2017-10-18 18:07:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000181297" "00180361" "1" "01741" "01741" "2018-09-05 08:38:43" "" "" "SEQ-NG" "DNA" "" "" "0000182158" "00181200" "1" "02581" "02581" "2018-10-02 21:33:11" "" "" "?" "DNA" "" "" "0000184229" "00183270" "1" "00006" "00006" "2018-10-22 13:54:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000209861" "00208812" "1" "01164" "01164" "2018-12-17 10:13:46" "" "" "SEQ-NG" "DNA" "" "" "0000276744" "00275586" "1" "01807" "01807" "2020-01-09 21:03:48" "" "" "SEQ" "DNA" "" "" "0000291875" "00290707" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291876" "00290708" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291877" "00290709" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291878" "00290710" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291879" "00290711" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297980" "00296870" "1" "01164" "01164" "2020-04-14 14:32:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302163" "00301042" "1" "01741" "01741" "2020-05-06 08:59:58" "" "" "SEQ-NG" "DNA" "" "" "0000305486" "00304357" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309149" "00308005" "1" "01164" "01164" "2020-08-25 11:33:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000310252" "00309107" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310253" "00309108" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321455" "00320269" "1" "01164" "01164" "2020-11-26 15:30:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000327077" "00325867" "1" "01807" "01807" "2021-01-04 12:38:01" "" "" "SEQ" "DNA" "" "" "0000329562" "00328348" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329563" "00328349" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329564" "00328350" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329565" "00328351" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329566" "00328352" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329567" "00328353" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329568" "00328354" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329569" "00328355" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329570" "00328356" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329571" "00328357" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329572" "00328358" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329573" "00328359" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329574" "00328360" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329575" "00328361" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329576" "00328362" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329577" "00328363" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000332596" "00331377" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332597" "00331378" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332598" "00331379" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332599" "00331380" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332600" "00331381" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332601" "00331382" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000335009" "00333783" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335010" "00333784" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335011" "00333785" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000360578" "00359338" "1" "01396" "01396" "2021-03-19 16:26:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000360581" "00359339" "1" "01396" "01396" "2021-03-19 16:52:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000360583" "00359341" "1" "01396" "01396" "2021-03-19 16:59:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000360584" "00359342" "1" "01396" "01396" "2021-03-19 17:05:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000360586" "00359344" "1" "01396" "01396" "2021-03-19 17:10:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000360587" "00359345" "1" "01396" "01396" "2021-03-19 17:16:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000360588" "00359346" "1" "01396" "01396" "2021-03-19 17:20:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000360589" "00359347" "1" "01396" "01396" "2021-03-19 17:25:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000360590" "00359348" "1" "01396" "01396" "2021-03-19 17:29:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000360591" "00359349" "1" "01396" "01396" "2021-03-19 17:35:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000360593" "00359351" "1" "01396" "01396" "2021-03-19 17:40:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000360595" "00359353" "1" "01396" "01396" "2021-03-19 17:45:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000360598" "00359356" "1" "01396" "01396" "2021-03-19 17:52:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000360600" "00359358" "1" "01396" "01396" "2021-03-19 17:55:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000364558" "00363330" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364565" "00363337" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000372891" "00371663" "1" "01164" "01164" "2021-05-03 18:07:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000375300" "00374107" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000380652" "00379452" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380653" "00379453" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380654" "00379454" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380655" "00379455" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380656" "00379456" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380657" "00379457" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380658" "00379458" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380659" "00379459" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380660" "00379460" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380661" "00379461" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380662" "00379462" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380663" "00379463" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380664" "00379464" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380665" "00379465" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380666" "00379466" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380667" "00379467" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000383350" "00382134" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000385472" "00384247" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385604" "00384379" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385625" "00384400" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385709" "00384484" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385720" "00384495" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386645" "00385416" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386697" "00385468" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000387970" "00386742" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388851" "00387625" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000391272" "00390031" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000391275" "00390034" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000404055" "00402814" "1" "04264" "04264" "2022-02-11 09:31:53" "04264" "2022-02-11 10:35:06" "SEQ-NG-I" "DNA" "blood" "huaxiaomin666@sina.com" "0000411850" "00410585" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418306" "00417026" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418322" "00417042" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418337" "00417057" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418339" "00417059" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418349" "00417069" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418355" "00417075" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418359" "00417079" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418362" "00417082" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418369" "00417089" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418378" "00417098" "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" "" "0000418428" "00417148" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000420803" "00419499" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420804" "00419500" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420916" "00419612" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433226" "00431787" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433227" "00431788" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433229" "00431790" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433230" "00431791" "1" "04136" 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"0000024812" "COL2A1" "0000024813" "COL2A1" "0000024814" "COL2A1" "0000024815" "COL2A1" "0000024816" "COL2A1" "0000024817" "COL2A1" "0000024818" "COL2A1" "0000024819" "COL2A1" "0000024820" "COL2A1" "0000024821" "COL2A1" "0000024822" "COL2A1" "0000024823" "COL2A1" "0000024824" "COL2A1" "0000024825" "COL2A1" "0000024826" "COL2A1" "0000024827" "COL2A1" "0000024828" "COL2A1" "0000024829" "COL2A1" "0000024830" "COL2A1" "0000024831" "COL2A1" "0000024832" "COL2A1" "0000024833" "COL2A1" "0000024834" "COL2A1" "0000024835" "COL2A1" "0000024836" "COL2A1" "0000024837" "COL2A1" "0000024838" "COL2A1" "0000024839" "COL2A1" "0000024840" "COL2A1" "0000024841" "COL2A1" "0000024842" "COL2A1" "0000024843" "COL2A1" "0000024844" "COL2A1" "0000024845" "COL2A1" "0000024846" "COL2A1" "0000024847" "COL2A1" "0000024848" "COL2A1" "0000024849" "COL2A1" "0000024850" "COL2A1" "0000024851" "COL2A1" "0000024852" "COL2A1" "0000024853" "COL2A1" "0000024854" "COL2A1" "0000024855" "COL2A1" "0000024856" "COL2A1" "0000024857" "COL2A1" "0000024858" "COL2A1" "0000024859" "COL2A1" "0000024860" "COL2A1" "0000024861" "COL2A1" "0000024862" "COL2A1" "0000024863" "COL2A1" "0000024864" "COL2A1" "0000024865" "COL2A1" "0000024866" "COL2A1" "0000024867" "COL2A1" "0000024868" "COL2A1" "0000024869" "COL2A1" "0000024870" "COL2A1" "0000024871" "COL2A1" "0000024872" "COL2A1" "0000024873" "COL2A1" "0000024874" "COL2A1" "0000024875" "COL2A1" "0000024876" "COL2A1" "0000024877" "COL2A1" "0000024878" "COL2A1" "0000024879" "COL2A1" "0000024880" "COL2A1" "0000024881" "COL2A1" "0000024882" "COL2A1" "0000024883" "COL2A1" "0000024884" "COL2A1" "0000024885" "COL2A1" "0000024886" "COL2A1" "0000024887" "COL2A1" "0000024888" "COL2A1" "0000024889" "COL2A1" "0000024890" "COL2A1" "0000024891" "COL2A1" "0000024892" "COL2A1" "0000024893" "COL2A1" "0000024894" "COL2A1" "0000024895" "COL2A1" "0000024896" "COL2A1" "0000024897" "COL2A1" "0000024898" "COL2A1" "0000024899" "COL2A1" "0000024900" "COL2A1" "0000024901" "COL2A1" "0000024902" "COL2A1" "0000024903" "COL2A1" "0000024904" "COL2A1" "0000024905" "COL2A1" "0000024906" "COL2A1" "0000024907" "COL2A1" "0000024908" "COL2A1" "0000024909" "COL2A1" "0000024910" "COL2A1" "0000024911" "COL2A1" "0000024912" "COL2A1" "0000035365" "COL2A1" "0000035366" "COL2A1" "0000035367" "COL2A1" "0000035368" "COL2A1" "0000035369" "COL2A1" "0000035370" "COL2A1" "0000035371" "COL2A1" "0000035372" "COL2A1" "0000035373" "COL2A1" "0000035374" "COL2A1" "0000035375" "COL2A1" "0000035376" "COL2A1" "0000035377" "COL2A1" "0000035378" "COL2A1" "0000035379" "COL2A1" "0000035380" "COL2A1" "0000035381" "COL2A1" "0000035382" "COL2A1" "0000035383" "COL2A1" "0000035384" "COL2A1" "0000035385" "COL2A1" "0000037686" "COL2A1" "0000038604" "COL2A1" "0000038636" "COL2A1" "0000038637" "COL2A1" "0000038638" "COL2A1" "0000038639" "COL2A1" "0000038640" "COL2A1" "0000038641" "COL2A1" "0000038642" "COL2A1" "0000038643" "COL2A1" "0000038644" "COL2A1" "0000038645" "COL2A1" "0000038646" "COL2A1" "0000038647" "COL2A1" "0000038648" "COL2A1" "0000038649" "COL2A1" "0000038650" "COL2A1" "0000038651" "COL2A1" "0000038652" "COL2A1" "0000038653" "COL2A1" "0000038654" "COL2A1" "0000038655" "COL2A1" "0000038656" "COL2A1" "0000038657" "COL2A1" "0000038658" "COL2A1" "0000038659" "COL2A1" "0000038660" "COL2A1" "0000038661" "COL2A1" "0000038662" "COL2A1" "0000038663" "COL2A1" "0000038664" "COL2A1" "0000038665" "COL2A1" "0000038666" "COL2A1" "0000038667" "COL2A1" "0000038668" "COL2A1" "0000038669" "COL2A1" "0000038670" "COL2A1" "0000038671" "COL2A1" "0000038672" "COL2A1" "0000038673" "COL2A1" "0000038674" "COL2A1" "0000038675" "COL2A1" "0000038676" "COL2A1" "0000038677" "COL2A1" "0000038678" "COL2A1" "0000038679" "COL2A1" "0000038680" "COL2A1" "0000038681" "COL2A1" "0000038682" "COL2A1" "0000038683" "COL2A1" "0000038684" "COL2A1" "0000038685" "COL2A1" "0000038686" "COL2A1" "0000038687" "COL2A1" "0000038688" "COL2A1" "0000038689" "COL2A1" "0000038690" "COL2A1" "0000038691" "COL2A1" "0000038692" "COL2A1" "0000038693" "COL2A1" "0000038694" "COL2A1" "0000038695" "COL2A1" "0000038696" "COL2A1" "0000038697" "COL2A1" "0000038698" "COL2A1" "0000038699" "COL2A1" "0000038700" "COL2A1" "0000038701" "COL2A1" "0000038702" "COL2A1" "0000038703" "COL2A1" "0000038704" "COL2A1" "0000038705" "COL2A1" "0000038706" "COL2A1" "0000038707" "COL2A1" "0000038708" "COL2A1" "0000038709" "COL2A1" "0000038710" "COL2A1" "0000038711" "COL2A1" "0000038712" "COL2A1" "0000038713" "COL2A1" "0000038714" "COL2A1" "0000038715" "COL2A1" "0000038716" "COL2A1" "0000038717" "COL2A1" "0000038718" "COL2A1" "0000038719" "COL2A1" "0000038720" "COL2A1" "0000038721" "COL2A1" "0000038722" "COL2A1" "0000038723" "COL2A1" "0000038724" "COL2A1" "0000038725" "COL2A1" "0000038726" "COL2A1" "0000038727" "COL2A1" "0000038728" "COL2A1" "0000038729" "COL2A1" "0000038730" "COL2A1" "0000038731" "COL2A1" "0000038732" "COL2A1" "0000038733" "COL2A1" "0000038734" "COL2A1" "0000038735" "COL2A1" "0000038972" "COL2A1" "0000039031" "COL2A1" "0000039032" "COL2A1" "0000050076" "COL2A1" "0000051484" "COL2A1" "0000051485" "COL2A1" "0000051489" "COL2A1" "0000060235" "COL2A1" "0000080923" "COL2A1" "0000111890" "COL2A1" "0000111895" "COL2A1" "0000111896" "COL2A1" "0000111897" "COL2A1" "0000111898" "COL2A1" "0000112129" "COL2A1" "0000112140" "COL2A1" "0000112141" "COL2A1" "0000112142" "COL2A1" "0000112143" "COL2A1" "0000112152" "COL2A1" "0000112153" "COL2A1" "0000112155" "COL2A1" "0000112157" "COL2A1" "0000112158" "COL2A1" "0000112159" "COL2A1" "0000112161" "COL2A1" "0000115526" "COL2A1" "0000115527" "COL2A1" "0000115529" "COL2A1" "0000115530" "COL2A1" "0000117600" "COL2A1" "0000117601" "COL2A1" "0000117810" "COL2A1" "0000117811" "COL2A1" "0000117812" "COL2A1" "0000117813" "COL2A1" "0000117815" "COL2A1" "0000117816" "COL2A1" "0000117817" "COL2A1" "0000117818" "COL2A1" "0000117819" "COL2A1" "0000117820" "COL2A1" "0000117821" "COL2A1" "0000117822" "COL2A1" "0000117823" "COL2A1" "0000117824" "COL2A1" "0000117825" "COL2A1" "0000117826" "COL2A1" "0000117827" "COL2A1" "0000117829" "COL2A1" "0000117831" "COL2A1" "0000117832" "COL2A1" "0000117833" "COL2A1" "0000117834" "COL2A1" "0000117835" "COL2A1" "0000117844" "COL2A1" "0000117845" "COL2A1" "0000117846" "COL2A1" "0000117847" "COL2A1" "0000117849" "COL2A1" "0000117850" "COL2A1" "0000117851" "COL2A1" "0000117852" "COL2A1" "0000117853" "COL2A1" "0000117854" "COL2A1" "0000117855" "COL2A1" "0000117856" "COL2A1" "0000117857" "COL2A1" "0000117858" "COL2A1" "0000117859" "COL2A1" "0000117860" "COL2A1" "0000117861" "COL2A1" "0000117862" "COL2A1" "0000117863" "COL2A1" "0000117864" "COL2A1" "0000117865" "COL2A1" "0000117866" "COL2A1" "0000117867" "COL2A1" "0000117868" "COL2A1" "0000117870" "COL2A1" "0000117871" "COL2A1" "0000117872" "COL2A1" "0000117873" "COL2A1" "0000117919" "COL2A1" "0000117920" "COL2A1" "0000117921" "COL2A1" "0000117922" "COL2A1" "0000117925" "COL2A1" "0000117926" "COL2A1" "0000117927" "COL2A1" "0000117928" "COL2A1" "0000117929" "COL2A1" "0000117930" "COL2A1" "0000117931" "COL2A1" "0000117933" "COL2A1" "0000117934" "COL2A1" "0000117935" "COL2A1" "0000117936" "COL2A1" "0000117968" "COL2A1" "0000117969" "COL2A1" "0000117970" "COL2A1" "0000117971" "COL2A1" "0000117989" "COL2A1" "0000132903" "COL2A1" "0000132904" "COL2A1" "0000132905" "COL2A1" "0000181297" "COL2A1" "0000182158" "COL2A1" "0000184229" "COL2A1" "0000302163" "COL2A1" "0000310252" "COL2A1" "0000310253" "COL2A1" "0000321455" "COL2A1" "0000329562" "COL2A1" "0000329563" "COL2A1" "0000329564" "COL2A1" "0000329565" "COL2A1" "0000329566" "COL2A1" "0000329567" "COL2A1" "0000329568" "COL2A1" "0000329569" "COL2A1" "0000329569" "OPA1" "0000329570" "COL2A1" "0000329571" "COL2A1" "0000329572" "COL2A1" "0000329573" "COL2A1" "0000329574" "COL2A1" "0000329575" "COL2A1" "0000329576" "COL2A1" "0000329577" "COL2A1" "0000332596" "COL2A1" "0000332597" "COL2A1" "0000332598" "COL2A1" "0000332599" "COL2A1" "0000332600" "COL2A1" "0000332601" "COL2A1" "0000335009" "COL2A1" "0000335010" "COL2A1" "0000335011" "COL2A1" "0000360578" "COL2A1" "0000360581" "COL2A1" "0000360583" "COL2A1" "0000360584" "COL2A1" "0000360586" "COL2A1" "0000360587" "COL2A1" "0000360588" "COL2A1" "0000360589" "COL2A1" "0000360590" "COL2A1" "0000360591" "COL2A1" "0000360593" "COL2A1" "0000360595" "COL2A1" "0000360598" "COL2A1" "0000360600" "COL2A1" "0000364558" "COL2A1" "0000364565" "COL2A1" "0000372891" "COL2A1" "0000375300" "COL2A1" "0000380652" "COL2A1" "0000380653" "COL2A1" "0000380654" "COL2A1" "0000380655" "COL2A1" "0000380656" "COL2A1" "0000380657" "COL2A1" "0000380658" "COL2A1" "0000380659" "COL2A1" "0000380660" "COL2A1" "0000380661" "COL2A1" "0000380662" "COL2A1" "0000380663" "COL2A1" "0000380664" "COL2A1" "0000380665" "COL2A1" "0000380666" "COL2A1" "0000380667" "COL2A1" "0000383350" "COL2A1" "0000385472" "COL2A1" "0000385604" "COL2A1" "0000385625" "COL2A1" "0000385709" "COL2A1" "0000385720" "COL2A1" "0000386645" "COL2A1" "0000386697" "COL2A1" "0000387970" "COL2A1" "0000388851" "COL2A1" "0000391272" "COL2A1" "0000391275" "COL2A1" "0000445583" "COL2A1" "0000445585" "COL2A1" "0000445586" "COL2A1" "0000445587" "COL2A1" "0000445588" "COL2A1" "0000445589" "COL2A1" "0000445590" "COL2A1" "0000445591" "COL2A1" "0000445592" "COL2A1" "0000445593" "COL2A1" "0000445594" "COL2A1" "0000445678" "COL2A1" "0000445679" "COL2A1" "0000445680" "COL2A1" "0000445681" "COL2A1" "0000445682" "COL2A1" "0000445683" "COL2A1" "0000445686" "COL2A1" "0000445687" "COL2A1" "0000445688" "COL2A1" "0000445689" "COL2A1" "0000445690" "COL2A1" "0000445691" "COL2A1" "0000445692" "COL2A1" "0000445693" "COL2A1" "0000445694" "COL2A1" "0000445695" "COL2A1" "0000445697" "COL2A1" "0000445699" "COL2A1" "0000445700" "COL2A1" ## 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 = 1456 "{{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}}" "0000047067" "1" "90" "12" "48369744" "48370134" "del" "0" "00006" "COL2A1_000385" "g.48369744_48370134del" "" "{PMID:Lee 1989:02543071}, {OMIM120140:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47975961_47976351del" "" "pathogenic" "" "0000047068" "10" "90" "12" "48370603" "48370603" "subst" "0" "00006" "COL2A1_000002" "g.48370603C>T" "" "{PMID:Vissing 1989:02572591}, {OMIM120140:0002}" "" "G943S" "" "Unknown" "" "" "0" "" "" "g.47976820C>T" "" "pathogenic" "" "0000047069" "10" "11" "12" "48367976" "48367976" "subst" "0.163871" "00006" "COL2A1_000001" "g.48367976C>T" "" "{PMID:Vissing 1989:02572591}" "" "G171S" "" "Unknown" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000047070" "0" "11" "12" "48367976" "48367976" "subst" "0.163871" "00006" "COL2A1_000001" "g.48367976C>T" "8/50 controls" "{PMID:Vissing 1989:02572591}" "" "G171S" "found 8/50 control chromosomes" "Unknown" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000047071" "1" "90" "12" "48375925" "48375925" "subst" "0" "00006" "COL2A1_000001" "g.48375925C>T" "" "{PMID:Horton 1992:01374906}, {OMIM120140:0007}" "" "G574S" "" "Unknown" "" "" "0" "" "" "g.47982142C>T" "" "pathogenic" "" "0000047072" "1" "90" "12" "48371390" "48371390" "subst" "0" "00006" "COL2A1_000003" "g.48371390C>T" "" "{PMID:Bogaert 1992:01429602}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977607C>T" "" "pathogenic" "" "0000047073" "1" "90" "12" "48372524" "48372524" "del" "0" "00006" "COL2A1_000004" "g.48372524del" "" "{PMID:Brown 1992:01444917}" "" "2751delT" "" "Unknown" "" "" "0" "" "" "g.47978741del" "" "pathogenic" "" "0000047074" "0" "90" "12" "48372481" "48372481" "subst" "0" "00006" "COL2A1_000005" "g.48372481G>A" "" "{PMID:Ahmad 1991:1677770}" "" "CGA for arginine at amino acid position 732 to TGA in exon 40\"\"" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047075" "1" "90" "12" "48369754" "48369754" "subst" "0" "00006" "COL2A1_000006" "g.48369754C>T" "" "{PMID:Chan 1991:01905723}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047076" "1" "90" "12" "48376669" "48376669" "subst" "0" "00006" "COL2A1_000007" "g.48376669G>A" "" "{PMID:Ala-Kokko 1990:01975693}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047077" "1" "90" "12" "48368557" "48368557" "del" "0" "00006" "COL2A1_000008" "g.48368557del" "" "{PMID:Ahmad 1995:07487609}" "" "3978delC" "" "Unknown" "" "" "0" "" "" "g.47974774del" "" "pathogenic" "" "0000047078" "1" "90" "12" "48380171" "48380171" "subst" "0" "00006" "COL2A1_000009" "g.48380171C>A" "" "{PMID:Tiller 1995:07550321}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986388C>A" "" "pathogenic" "" "0000047079" "1" "90" "12" "48380136" "48380137" "delins" "0" "00006" "COL2A1_000010" "g.48380136_48380137delinsAA" "" "{PMID:Tiller 1995:07550321}" "" "1509_1510delCGinsTT" "" "Unknown" "" "" "0" "" "" "g.47986353_47986354delinsAA" "" "pathogenic" "" "0000047080" "1" "90" "12" "48373302" "48373302" "subst" "0" "00006" "COL2A1_000011" "g.48373302C>A" "" "{PMID:Tiller 1995:07550321}" "" "" "" "Unknown" "" "" "0" "" "" "g.47979519C>A" "" "pathogenic" "" "0000047081" "1" "90" "12" "48370929" "48370929" "subst" "0" "00006" "COL2A1_000012" "g.48370929C>T" "" "{PMID:Winterpacht 1995:07705841}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977146C>T" "" "pathogenic" "" "0000047082" "1" "90" "12" "48380622" "48380622" "del" "0" "00006" "COL2A1_000013" "g.48380622del" "" "{PMID:Brown 1995:07711727}" "" "1416delA" "" "Unknown" "" "" "0" "" "" "g.47986839del" "" "pathogenic" "" "0000047083" "1" "90" "12" "48379747" "48379747" "subst" "0" "00006" "COL2A1_000014" "g.48379747C>T" "" "{PMID:Bonaventure 1995:07741714}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985964C>T" "" "pathogenic" "" "0000047084" "1" "90" "12" "48371891" "48371891" "subst" "0" "00006" "COL2A1_000015" "g.48371891C>T" "" "{PMID:Bonaventure 1995:07741714}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978108C>T" "" "pathogenic" "" "0000047085" "1" "90" "12" "48373800" "48373800" "subst" "0" "00006" "COL2A1_000016" "g.48373800C>G" "" "{PMID:Williams 1995:07757086}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980017C>G" "" "pathogenic" "" "0000047086" "1" "90" "12" "48369781" "48369781" "subst" "0" "00006" "COL2A1_000017" "g.48369781C>G" "" "{PMID:Williams 1995:07757086}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975998C>G" "" "pathogenic" "" "0000047087" "1" "90" "12" "48369817" "48369817" "subst" "0" "00006" "COL2A1_000018" "g.48369817C>T" "" "{PMID:Williams 1995:07757086}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976034C>T" "" "pathogenic" "" "0000047088" "1" "90" "12" "48372172" "48372172" "subst" "0" "00006" "COL2A1_000019" "g.48372172C>T" "" "{PMID:Chan 1995:07829510}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978389C>T" "" "pathogenic" "" "0000047089" "1" "90" "12" "48380613" "48380613" "subst" "0" "00006" "COL2A1_000020" "g.48380613C>A" "" "{PMID:Tiller 1995:07847372}" "" "IVS20+5G>T" "" "Unknown" "" "" "0" "" "" "g.47986830C>A" "" "pathogenic" "" "0000047090" "1" "90" "12" "48380228" "48380228" "subst" "0" "00006" "COL2A1_000355" "g.48380228T>C" "" "{PMID:Winterpacht 1994:07849719}" "" "IVS20-2A>G" "" "Unknown" "" "" "0" "" "" "g.47986445T>C" "" "pathogenic" "" "0000047091" "1" "90" "12" "48380226" "48380226" "subst" "0" "00006" "COL2A1_000022" "g.48380226C>T" "" "{PMID:Winterpacht 1994:07866404}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986443C>T" "" "pathogenic" "" "0000047092" "1" "90" "12" "48387608" "48387608" "subst" "0" "00006" "COL2A1_000023" "g.48387608C>T" "" "{PMID:Wilkin 1994:07874117}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993825C>T" "" "pathogenic" "" "0000047093" "1" "90" "12" "48387611" "48387611" "subst" "0" "00006" "COL2A1_000024" "g.48387611G>A" "" "{PMID:Bogaert 1994:07977371}" "" "ex 14 GCG>GTG" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000047094" "1" "90" "12" "48380887" "48380887" "subst" "0" "00006" "COL2A1_000025" "g.48380887C>T" "" "{PMID:Ritvaniemi 1994:08019561}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987104C>T" "" "pathogenic" "" "0000047095" "1" "90" "12" "48375178" "48375178" "subst" "0" "00006" "COL2A1_000026" "g.48375178C>G" "" "{PMID:Freisinger 1994:08175802}" "" "" "" "Unknown" "" "" "0" "" "" "g.47981395C>G" "" "pathogenic" "" "0000047096" "1" "90" "12" "48387824" "48387824" "subst" "0" "00006" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Williams 1993:08244341}" "" "" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000047097" "21" "99" "12" "48388223" "48388223" "subst" "0" "00818" "COL2A1_000028" "g.48388223C>T" "" "{PMID:Korkko 1993:08317498}" "" "G67D exon 10" "" "Unknown" "" "" "0" "" "" "g.47994440C>T" "" "pathogenic" "" "0000047098" "1" "90" "12" "48372112" "48372112" "subst" "0" "00006" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Chan 1993:08325895}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047099" "1" "90" "12" "48371410" "48371410" "del" "0" "00006" "COL2A1_000030" "g.48371410del" "" "{PMID:Ritvaniemi 1993:08406454}" "" "3138delT" "" "Unknown" "" "" "0" "" "" "g.47977627del" "" "pathogenic" "" "0000047100" "1" "90" "12" "48389687" "48389687" "subst" "0" "00006" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Ahmad 1993:08434604}" "" "p.Arg9* in exon 7" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047101" "1" "90" "12" "48383552" "48383552" "subst" "0" "00006" "COL2A1_000032" "g.48383552C>T" "" "{PMID:Vikkula 1993:08486375}" "" "" "" "Unknown" "" "" "0" "" "" "g.47989769C>T" "" "pathogenic" "" "0000047102" "1" "90" "12" "48367899" "48367903" "dup" "0" "00006" "COL2A1_000033" "g.48367899_48367903dup" "" "{PMID:Zabel 1996:08723097}" "" "4287_4291dupCACGT" "" "Unknown" "" "" "0" "" "" "g.47974116_47974120dup" "" "pathogenic" "" "0000047103" "1" "90" "12" "48370693" "48370693" "subst" "0" "00006" "COL2A1_000034" "g.48370693C>A" "" "{PMID:Mundlos 1996:08723098}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976910C>A" "" "pathogenic" "" "0000047104" "1" "90" "12" "48369350" "48369367" "del" "0" "00006" "COL2A1_000035" "g.48369350_48369367del" "" "{PMID:Winterpacht 1996:08863156}" "" "3627_3644delTCCTCCAGGTCCCCCTGG" "" "Unknown" "" "" "0" "" "" "g.47975567_47975584del" "" "pathogenic" "" "0000047105" "1" "90" "12" "48381051" "48381051" "del" "0" "00006" "COL2A1_000036" "g.48381051del" "" "{PMID:Spranger 1997:09066888}" "" "1266+1delG" "" "Unknown" "" "" "0" "" "" "g.47987268del" "" "pathogenic" "" "0000047106" "1" "90" "12" "48371854" "48371854" "subst" "0" "00006" "COL2A1_000037" "g.48371854C>A" "" "{PMID:Kuivaniemi 1997:09101290}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978071C>A" "" "pathogenic" "" "0000047107" "1" "90" "12" "48370702" "48370702" "subst" "0" "00006" "COL2A1_000038" "g.48370702C>A" "" "{PMID:Kuivaniemi 1997:09101290}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976919C>A" "" "pathogenic" "" "0000047108" "1" "90" "12" "48370603" "48370603" "subst" "0" "00006" "COL2A1_000039" "g.48370603C>A" "" "{PMID:Kuivaniemi 1997:09101290}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976820C>A" "" "pathogenic" "" "0000047109" "1" "90" "12" "48379312" "48379312" "subst" "0" "00006" "COL2A1_000040" "g.48379312C>T" "" "{PMID:Weis 1998:09468540}" "" "IVS24+4G>A" "" "Unknown" "" "" "0" "" "" "g.47985529C>T" "" "pathogenic" "" "0000047110" "1" "90" "12" "48386704" "48386704" "subst" "0" "00006" "COL2A1_000041" "g.48386704C>T" "" "{PMID:Weis 1998:09468540}" "" "" "" "Unknown" "" "" "0" "" "" "g.47992921C>T" "" "pathogenic" "" "0000047111" "1" "90" "12" "48383543" "48383543" "subst" "0" "00006" "COL2A1_000347" "g.48383543C>T" "" "{PMID:Fernandes 1998:09675039}" "" "IVS15+1G>A" "" "Unknown" "" "" "0" "" "" "g.47989760C>T" "" "pathogenic" "" "0000047112" "0" "90" "12" "48373317" "48373317" "subst" "0" "00006" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Ballo 1998:09800905}" "" "C2503T" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047113" "1" "90" "12" "48386657" "48386660" "del" "0" "00006" "COL2A1_000044" "g.48386657_48386660del" "" "{PMID:Wilkin 1999:10406661}" "" "1023+3_1023+6delGAGT" "" "Unknown" "" "" "0" "" "" "g.47992874_47992877del" "" "pathogenic" "" "0000047114" "1" "90" "12" "48380942" "48380959" "del" "0" "00006" "COL2A1_000045" "g.48380942_48380959del" "" "{PMID:Wilkin 1999:10406661}" "" "1279_1296delATTGCTGGTGCTCCTGGC" "" "Unknown" "" "" "0" "" "" "g.47987159_47987176del" "" "pathogenic" "" "0000047115" "1" "90" "12" "48380614" "48380617" "del" "0" "00006" "COL2A1_000046" "g.48380614_48380617del" "" "{PMID:Wilkin 1999:10406661}" "" "1419+3_1419+6delGAGT" "" "Unknown" "" "" "0" "" "" "g.47986831_47986834del" "" "pathogenic" "" "0000047116" "1" "90" "12" "48387831" "48387831" "subst" "0" "00006" "COL2A1_000396" "g.48387831C>T" "" "{PMID:Annunen 1999:10486316}" "" "G-1 IVS12>A" "" "Unknown" "" "" "0" "" "" "g.47994048C>T" "" "pathogenic" "" "0000047117" "1" "90" "12" "48373846" "48373846" "subst" "0" "00006" "COL2A1_000048" "g.48373846C>A" "" "{PMID:Annunen 1999:10486316}" "" "G-1 IVS39>T" "" "Unknown" "" "" "0" "" "" "g.47980063C>A" "" "pathogenic" "" "0000047118" "1" "90" "12" "48376708" "48376708" "subst" "0" "00006" "COL2A1_000049" "g.48376708C>A" "" "{PMID:Annunen 1999:10486316}" "" "ex31 E506X" "" "Unknown" "" "" "0" "" "" "g.47982925C>A" "" "pathogenic" "" "0000047119" "1" "90" "12" "48375592" "48375592" "del" "0" "00006" "COL2A1_000050" "g.48375592del" "" "{PMID:Annunen 1999:10486316}" "" "ex34 22620delC" "" "Unknown" "" "" "0" "" "" "g.47981809del" "" "pathogenic" "" "0000047120" "1" "90" "12" "48369362" "48369362" "del" "0" "00006" "COL2A1_000051" "g.48369362del" "" "{PMID:Annunen 1999:10486316}" "" "ex49 28829del" "" "Unknown" "" "" "0" "" "" "g.47975579del" "" "pathogenic" "" "0000047121" "1" "90" "12" "48368575" "48368575" "del" "0" "00006" "COL2A1_000052" "g.48368575del" "" "{PMID:Annunen 1999:10486316}" "" "ex50 29616del" "" "Unknown" "" "" "0" "" "" "g.47974792del" "" "pathogenic" "" "0000047122" "1" "90" "12" "48387277" "48387277" "del" "0" "00006" "COL2A1_000053" "g.48387277del" "" "{PMID:Annunen 1999:10486316}" "" "ex13 10819delT" "" "Unknown" "" "" "0" "" "" "g.47993494del" "" "pathogenic" "" "0000047123" "1" "90" "12" "48369826" "48369826" "subst" "0" "00006" "COL2A1_000054" "g.48369826C>G" "" "{PMID:Sobetzko 2000:10678662}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976043C>G" "" "pathogenic" "" "0000047124" "1" "90" "12" "48378777" "48378777" "subst" "0" "00006" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Freddi 2000:10706362}" "" "IVS26+1G>A" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047125" "0" "90" "12" "48380900" "48380900" "del" "0" "00818" "COL2A1_000055" "g.48380900del" "" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "17189 del 1 bp, frameshift: stop in exon 28" "" "Unknown" "" "" "0" "" "" "g.47987117del" "" "pathogenic" "" "0000047126" "0" "90" "12" "48393853" "48393853" "subst" "0" "00818" "COL2A1_000056" "g.48393853C>T" "" "{PMID:Richards 2000:10729292}" "" "4246 G-A W47X (N-propeptide)" "" "Germline" "" "" "0" "" "" "g.48000070C>T" "" "pathogenic" "" "0000047127" "0" "90" "12" "48393833" "48393836" "dup" "0" "00818" "COL2A1_000057" "g.48393833_48393836dup" "" "{PMID:Richards 2000:10729292}" "" "4266 ins 4 bp in exon 2 with Frameshift stop in Exon 2" "" "Unknown" "" "" "0" "" "" "g.48000050_48000053dup" "" "pathogenic" "" "0000047128" "0" "90" "12" "48393830" "48393831" "del" "0" "00818" "COL2A1_000058" "g.48393830_48393831del" "" "{PMID:Richards 2000:10729292}" "" "4269 del 2 bp with a frameshift: stop in exon 2" "" "Unknown" "" "" "0" "" "" "g.48000047_48000048del" "" "pathogenic" "" "0000047129" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "22314C-T R585X" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047130" "0" "90" "12" "48372529" "48372529" "dup" "0" "00818" "COL2A1_000060" "g.48372529dup" "" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "25671 ins C, frameshift: stop in exon 42" "" "Unknown" "" "" "0" "" "" "g.47978746dup" "" "pathogenic" "" "0000047131" "0" "90" "12" "48372467" "48372467" "dup" "0" "00818" "COL2A1_000061" "g.48372467dup" "" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "25734 ins C, frameshift: stop in exon 42" "" "Unknown" "" "" "0" "" "" "g.47978684dup" "" "pathogenic" "" "0000047132" "1" "90" "12" "48379739" "48379739" "subst" "0" "00006" "COL2A1_000062" "g.48379739C>T" "" "{PMID:Mortier 2000:10745044}" "" "Gly313Ser" "" "Germline" "" "" "0" "" "" "g.47985956C>T" "" "pathogenic" "" "0000047133" "1" "90" "12" "48376674" "48376674" "subst" "0" "00006" "COL2A1_000063" "g.48376674C>A" "" "{PMID:Mortier 2000:10745044}" "" "Gly517Val" "" "Germline" "" "" "0" "" "" "g.47982891C>A" "" "pathogenic" "" "0000047134" "1" "90" "12" "48375933" "48375933" "subst" "0" "00006" "COL2A1_000064" "g.48375933C>G" "" "{PMID:Mortier 2000:10745044}" "" "Gly571Ala" "" "Germline" "" "" "0" "" "" "g.47982150C>G" "" "pathogenic" "" "0000047135" "1" "70" "12" "48368020" "48368020" "subst" "0" "00006" "COL2A1_000065" "g.48368020G>T" "" "{PMID:Mortier 2000:10745044}" "" "T1191N, later corrected to T1190N" "" "Germline" "" "" "0" "" "" "g.47974237G>T" "" "likely pathogenic" "" "0000047136" "1" "90" "12" "48375122" "48375125" "del" "0" "00006" "COL2A1_000066" "g.48375122_48375125del" "" "{PMID:Mortier 2000:10745044}" "" "2463+4_2463+7delAGTG" "" "Germline" "" "" "0" "" "IVS35+4delAGTG" "g.47981339_47981342del" "" "pathogenic" "" "0000047137" "1" "99" "12" "48380868" "48380868" "subst" "0" "00818" "COL2A1_000067" "g.48380868C>T" "" "{PMID:Korkko 2000:10797431}" "" "G253D exon 19" "" "Unknown" "" "" "0" "" "" "g.47987085C>T" "" "pathogenic" "" "0000047138" "1" "99" "12" "48380868" "48380868" "subst" "0" "00818" "COL2A1_000068" "g.48380868C>A" "" "{PMID:Korkko 2000:10797431}" "" "G253V exon 19" "" "Unknown" "" "" "0" "" "" "g.47987085C>A" "" "pathogenic" "" "0000047139" "1" "99" "12" "48375933" "48375933" "subst" "0" "00818" "COL2A1_000069" "g.48375933C>T" "" "{PMID:Korkko 2000:10797431}" "" "G571D exon 33" "" "Unknown" "" "" "0" "" "" "g.47982150C>T" "" "pathogenic" "" "0000047140" "1" "99" "12" "48375907" "48375907" "subst" "0" "00818" "COL2A1_000070" "g.48375907C>T" "" "{PMID:Korkko 2000:10797431}" "" "G580R exon 33" "" "Unknown" "" "" "0" "" "" "g.47982124C>T" "" "pathogenic" "" "0000047141" "1" "99" "12" "48375585" "48375585" "subst" "0" "00818" "COL2A1_000071" "g.48375585C>G" "" "{PMID:Korkko 2000:10797431}" "" "G595R exon 34" "" "Unknown" "" "" "0" "" "" "g.47981802C>G" "" "pathogenic" "" "0000047142" "1" "99" "12" "48373346" "48373346" "subst" "0" "00818" "COL2A1_000072" "g.48373346C>T" "" "{PMID:Korkko 2000:10797431}" "" "G694E exon 39" "" "Unknown" "" "" "0" "" "" "g.47979563C>T" "" "pathogenic" "" "0000047143" "1" "99" "12" "48372432" "48372432" "subst" "0" "00818" "COL2A1_000073" "g.48372432C>T" "" "{PMID:Korkko 2000:10797431}" "" "G748D exon 40" "" "Unknown" "" "" "0" "" "" "g.47978649C>T" "" "pathogenic" "" "0000047144" "1" "99" "12" "48372136" "48372136" "subst" "0" "00818" "COL2A1_000074" "g.48372136C>T" "" "{PMID:Korkko 2000:10797431}" "" "G781S exon 41" "" "Unknown" "" "" "0" "" "" "g.47978353C>T" "" "pathogenic" "" "0000047145" "1" "99" "12" "48371182" "48371182" "subst" "0" "00818" "COL2A1_000075" "g.48371182C>A" "" "{PMID:Korkko 2000:10797431}" "" "G865V exon 44" "" "Unknown" "" "" "0" "" "" "g.47977399C>A" "" "pathogenic" "" "0000047146" "1" "99" "12" "48370675" "48370675" "subst" "0" "00818" "COL2A1_000076" "g.48370675C>T" "" "{PMID:Korkko 2000:10797431}" "" "G919R exon 46" "" "Unknown" "" "" "0" "" "" "g.47976892C>T" "" "pathogenic" "" "0000047147" "1" "97" "12" "48376284" "48376284" "subst" "0" "00818" "COL2A1_000042" "g.48376284C>T" "" "{PMID:Korkko 2000:10797431}" "" "IVS34+1G>A" "" "Unknown" "" "" "0" "" "" "g.47982501C>T" "" "pathogenic" "" "0000047148" "1" "99" "12" "48365575" "48365591" "del" "0" "00818" "COL2A1_000077" "g.48365575_48365591del" "" "{PMID:Korkko 2000:10797431}" "" "G817-V822del6aa exon 44" "" "Unknown" "" "" "0" "" "" "g.47971792_47971808del" "" "pathogenic" "" "0000047149" "1" "90" "12" "48387611" "48387612" "del" "0" "00006" "COL2A1_000078" "g.48387611_48387612del" "" "{PMID:Faber 2000:10819645}" "" "905_906delCG" "" "Unknown" "" "" "0" "" "" "g.47993828_47993829del" "" "pathogenic" "" "0000047150" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Richards 2000:11007540}, {PMID:Richards 2006:16752401}" "" "R365C C->T" "" "De novo" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047151" "0" "90" "12" "48377218" "48377218" "subst" "0" "00818" "COL2A1_000080" "g.48377218G>A" "" "{PMID:Richards 2000:11007540}, {PMID:Richards 2005:15671297}" "" "L467F g.20996C>T" "" "Germline" "" "" "0" "" "" "g.47983435G>A" "" "pathogenic" "" "0000047152" "1" "90" "12" "48367873" "48367873" "subst" "7.73018E-5" "00006" "COL2A1_000081" "g.48367873G>A" "" "{PMID:Unger 2001:11746045}" "" "T1370M" "" "Unknown" "" "" "0" "" "" "g.47974090G>A" "" "pathogenic" "" "0000047153" "1" "90" "12" "48393824" "48393825" "del" "0" "00006" "COL2A1_000082" "g.48393824_48393825del" "" "{PMID:Gupta 2002:11812423}" "" "171_172delTG" "" "Unknown" "" "" "0" "" "" "g.48000041_48000042del" "" "pathogenic" "" "0000047154" "1" "90" "12" "48368618" "48368618" "subst" "0" "00006" "COL2A1_000083" "g.48368618C>T" "" "{PMID:Richards 2002:12205109}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974835C>T" "" "pathogenic" "" "0000047155" "1" "90" "12" "48393736" "48393736" "subst" "0" "00006" "COL2A1_000084" "g.48393736G>T" "" "{PMID:Donoso 2002:12429249}" "" "" "" "Unknown" "" "" "0" "" "" "g.47999953G>T" "" "pathogenic" "" "0000047156" "1" "90" "12" "48376372" "48376372" "dup" "0" "00006" "COL2A1_000085" "g.48376372dup" "" "{PMID:Vu 2003:12511349}" "" "2219dupC" "" "Unknown" "" "" "0" "" "" "g.47982589dup" "" "pathogenic" "" "0000047157" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R144X in exon 15" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047158" "1" "90" "12" "48379709" "48379713" "del" "0" "00818" "COL2A1_000087" "g.48379709_48379713del" "" "{PMID:Liberfarb 2003:12544472}" "" "1566_1570delTCTGG" "" "Unknown" "" "" "0" "" "" "g.47985926_47985930del" "" "pathogenic" "" "0000047159" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R333X in exon 23" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047160" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R453X in exon 28" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047161" "0" "90" "12" "48387634" "48387634" "del" "0" "00818" "COL2A1_000090" "g.48387634del" "" "{PMID:Liberfarb 2003:12544472}" "" "c.883delC L95fsX107 in exon 12" "" "Unknown" "" "" "0" "" "" "g.47993851del" "" "pathogenic" "" "0000047162" "1" "90" "12" "48380652" "48380652" "subst" "0" "00006" "COL2A1_000091" "g.48380652C>T" "" "{PMID:Tysoe 2003:12925722}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986869C>T" "" "pathogenic" "" "0000047163" "1" "90" "12" "48381492" "48381492" "subst" "0" "00006" "COL2A1_000092" "g.48381492C>G" "" "{PMID:Tysoe 2003:12925722}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987709C>G" "" "pathogenic" "" "0000047164" "1" "90" "12" "48368017" "48368017" "subst" "0" "00006" "COL2A1_000093" "g.48368017T>C" "" "{PMID:Nishimura 2004:14729840}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974234T>C" "" "pathogenic" "" "0000047165" "1" "90" "12" "48367240" "48367243" "del" "0" "00006" "COL2A1_000094" "g.48367240_48367243del" "" "{PMID:Nishimura 2004:14729840}" "" "4413_4416delAGGG" "" "Unknown" "" "" "0" "" "" "g.47973457_47973460del" "" "pathogenic" "" "0000047166" "1" "90" "12" "48379729" "48379729" "subst" "0" "00006" "COL2A1_000095" "g.48379729C>T" "" "{PMID:Faivre 2004:15054848}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985946C>T" "" "pathogenic" "" "0000047167" "1" "90" "12" "48380914" "48380914" "subst" "0" "00006" "COL2A1_000096" "g.48380914C>T" "" "{PMID:Jung 2004:15076581}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987131C>T" "" "pathogenic" "" "0000047168" "1" "90" "12" "48380216" "48380216" "subst" "0" "00006" "COL2A1_000097" "g.48380216C>A" "" "{PMID:Jung 2004:15076581}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986433C>A" "" "pathogenic" "" "0000047169" "1" "99" "12" "48367875" "48367875" "subst" "0" "00818" "COL2A1_000098" "g.48367875G>T" "0/100" "{PMID:Zankl 2004:15316962}" "" "" "" "De novo" "" "" "0" "" "" "g.47974092G>T" "" "pathogenic" "" "0000047170" "1" "99" "12" "48367320" "48367320" "del" "0" "00818" "COL2A1_000099" "g.48367320del" "0/100" "{PMID:Zankl 2004:15316962}" "" "4337delG" "" "De novo" "" "" "0" "" "" "g.47973537del" "" "pathogenic" "" "0000047171" "1" "90" "12" "48389056" "48389056" "del" "0" "00006" "COL2A1_000100" "g.48389056del" "" "{PMID:Baijens 2004:15533574}" "" "744delT" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047172" "1" "99" "12" "48367319" "48367319" "subst" "0" "00818" "COL2A1_000101" "g.48367319C>T" "0 controls" "{PMID:Zankl 2005:15643621}" "" "W1445X" "" "Unknown" "" "" "0" "" "" "g.47973536C>T" "" "pathogenic" "" "0000047173" "1" "99" "12" "48367312" "48367312" "subst" "0" "00818" "COL2A1_000102" "g.48367312T>G" "0 controls" "{PMID:Zankl 2005:15643621}" "" "" "" "Unknown" "" "" "0" "" "" "g.47973529T>G" "" "pathogenic" "" "0000047174" "21" "99" "12" "48367249" "48367249" "subst" "0" "00818" "COL2A1_000103" "g.48367249C>G" "0 controls" "{PMID:Zankl 2005:15643621}" "" "" "" "Germline" "" "" "0" "" "" "g.47973466C>G" "" "pathogenic" "" "0000047175" "1" "99" "12" "48367231" "48367231" "subst" "0" "00818" "COL2A1_000104" "g.48367231G>A" "0 controls" "{PMID:Zankl 2005:15643621}" "" "Q1475X" "" "De novo" "" "" "0" "" "" "g.47973448G>A" "" "pathogenic" "" "0000047176" "1" "99" "12" "48367203" "48367214" "del" "0" "00818" "COL2A1_000105" "g.48367203_48367214del" "0 controls" "{PMID:Zankl 2005:15643621}" "" "I1481_V1484del 4441_4452del" "" "Unknown" "" "" "0" "" "" "g.47973420_47973431del" "" "pathogenic" "" "0000047177" "21" "99" "12" "48367201" "48367201" "subst" "0" "00818" "COL2A1_000106" "g.48367201A>C" "0 controls" "{PMID:Zankl 2005:15643621}" "" "" "" "Germline" "" "" "0" "" "" "g.47973418A>C" "" "pathogenic" "" "0000047178" "1" "90" "12" "48387258" "48387258" "subst" "0" "00006" "COL2A1_000107" "g.48387258C>T" "" "{PMID:Richards 2005:15671297}" "" "g.10838G>A (G118R)" "" "Unknown" "" "" "0" "" "" "g.47993475C>T" "" "pathogenic" "" "0000047179" "1" "90" "12" "48369099" "48369099" "subst" "0" "00006" "COL2A1_000108" "g.48369099C>A" "" "{PMID:Richards 2005:15671297}" "" "IVS51+1G>T g.29092G>T" "" "Unknown" "" "" "0" "" "" "g.47975316C>A" "" "pathogenic" "" "0000047180" "1" "90" "12" "48381410" "48381410" "subst" "0" "00006" "COL2A1_000109" "g.48381410C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987627C>T" "" "pathogenic" "" "0000047181" "1" "90" "12" "48380950" "48380950" "subst" "0" "00006" "COL2A1_000110" "g.48380950C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987167C>G" "" "pathogenic" "" "0000047182" "1" "90" "12" "48380869" "48380869" "subst" "0" "00006" "COL2A1_000111" "g.48380869C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987086C>T" "" "pathogenic" "" "0000047183" "1" "90" "12" "48380661" "48380661" "subst" "0" "00006" "COL2A1_000112" "g.48380661C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986878C>T" "" "pathogenic" "" "0000047184" "1" "90" "12" "48380634" "48380634" "subst" "0" "00006" "COL2A1_000113" "g.48380634C>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986851C>A" "" "pathogenic" "" "0000047185" "1" "90" "12" "48372468" "48372468" "subst" "0" "00006" "COL2A1_000114" "g.48372468C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978685C>T" "" "pathogenic" "" "0000047186" "1" "90" "12" "48369780" "48369780" "subst" "0" "00006" "COL2A1_000115" "g.48369780C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975997C>T" "" "pathogenic" "" "0000047187" "1" "90" "12" "48369388" "48369388" "subst" "0" "00006" "COL2A1_000116" "g.48369388C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975605C>T" "" "pathogenic" "" "0000047188" "1" "90" "12" "48369388" "48369388" "subst" "0" "00006" "COL2A1_000117" "g.48369388C>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975605C>A" "" "pathogenic" "" "0000047189" "1" "90" "12" "48367192" "48367192" "del" "0" "00006" "COL2A1_000118" "g.48367192del" "" "{PMID:Nishimura 2005:15895462}" "" "4462delT" "" "Unknown" "" "" "0" "" "" "g.47973409del" "" "pathogenic" "" "0000047190" "1" "90" "12" "48381438" "48381438" "subst" "0" "00006" "COL2A1_000119" "g.48381438C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987655C>T" "" "pathogenic" "" "0000047191" "1" "90" "12" "48380198" "48380198" "subst" "0" "00006" "COL2A1_000120" "g.48380198C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986415C>T" "" "pathogenic" "" "0000047192" "1" "90" "12" "48380136" "48380136" "subst" "0" "00006" "COL2A1_000121" "g.48380136C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000047193" "1" "90" "12" "48379711" "48379711" "subst" "0" "00006" "COL2A1_000122" "g.48379711C>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985928C>A" "" "pathogenic" "" "0000047194" "1" "90" "12" "48379582" "48379582" "subst" "0" "00006" "COL2A1_000123" "g.48379582C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985799C>T" "" "pathogenic" "" "0000047195" "1" "90" "12" "48378345" "48378345" "subst" "0" "00006" "COL2A1_000124" "g.48378345C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984562C>T" "" "pathogenic" "" "0000047196" "1" "90" "12" "48377203" "48377203" "subst" "0" "00006" "COL2A1_000125" "g.48377203C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983420C>T" "" "pathogenic" "" "0000047197" "1" "90" "12" "48374751" "48374751" "subst" "0" "00006" "COL2A1_000126" "g.48374751C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980968C>T" "" "pathogenic" "" "0000047198" "1" "90" "12" "48374425" "48374425" "subst" "0" "00006" "COL2A1_000127" "g.48374425C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980642C>T" "" "pathogenic" "" "0000047199" "1" "90" "12" "48369780" "48369780" "subst" "0" "00006" "COL2A1_000128" "g.48369780C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975997C>G" "" "pathogenic" "" "0000047200" "1" "90" "12" "48368640" "48368640" "subst" "0" "00006" "COL2A1_000129" "g.48368640A>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974857A>T" "" "pathogenic" "" "0000047201" "1" "90" "12" "48367305" "48367305" "subst" "0" "00006" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000047202" "1" "90" "12" "48368647" "48368647" "subst" "0" "00006" "COL2A1_000387" "g.48368647T>C" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974864T>C" "" "pathogenic" "" "0000047203" "1" "90" "12" "48381481" "48381481" "dup" "0" "00006" "COL2A1_000131" "g.48381481dup" "" "{PMID:Nishimura 2005:15895462}" "" "1137_1138insC" "" "Unknown" "" "" "0" "" "" "g.47987698dup" "" "pathogenic" "" "0000047204" "1" "90" "12" "48381062" "48381068" "delins" "0" "00006" "COL2A1_000132" "g.48381062_48381068delinsCACACACAACACTCACA" "" "{PMID:Nishimura 2005:15895462}" "" "1250_1256delGAGCCAAinsTGTGAGTGTTGTGTGTG" "" "Unknown" "" "" "0" "" "" "g.47987279_47987285delinsCACACACAACACTCACA" "" "pathogenic" "" "0000047205" "0" "90" "12" "48377884" "48377884" "del" "0" "00006" "COL2A1_000133" "g.48377884del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984101del" "" "pathogenic" "" "0000047206" "1" "90" "12" "48372080" "48372080" "del" "0" "00006" "COL2A1_000134" "g.48372080del" "" "{PMID:Nishimura 2005:15895462}" "" "2999delC" "" "Unknown" "" "" "0" "" "" "g.47978297del" "" "pathogenic" "" "0000047207" "1" "90" "12" "48391407" "48391407" "del" "0" "00006" "COL2A1_000135" "g.48391407del" "" "{PMID:Nishimura 2005:15895462}" "" "510delT" "" "Unknown" "" "" "0" "" "" "g.47997624del" "" "pathogenic" "" "0000047208" "1" "90" "12" "48374388" "48374388" "subst" "0.00230571" "00006" "COL2A1_000136" "g.48374388G>A" "" "{PMID:Jakkula 2005:15922184}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980605G>A" "" "pathogenic" "" "0000047209" "1" "90" "12" "48376675" "48376675" "subst" "0" "00006" "COL2A1_000137" "g.48376675C>T" "" "{PMID:Liu 2005:15930420}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982892C>T" "" "pathogenic" "" "0000047210" "1" "90" "12" "48369835" "48369835" "subst" "0" "00006" "COL2A1_000138" "g.48369835C>T" "" "{PMID:Liu 2005:15930420}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976052C>T" "" "pathogenic" "" "0000047211" "1" "90" "12" "48393757" "48393757" "del" "0" "00006" "COL2A1_000139" "g.48393757del" "" "{PMID:Yoshida 2006:16021188}" "" "237delG" "" "Unknown" "" "" "0" "" "" "g.47999974del" "" "pathogenic" "" "0000047212" "1" "90" "12" "48372103" "48372103" "subst" "0" "00006" "COL2A1_000140" "g.48372103T>C" "" "{PMID:Sulko 2005:16088915}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978320T>C" "" "pathogenic" "" "0000047213" "1" "90" "12" "48379371" "48379371" "subst" "0" "00006" "COL2A1_000362" "g.48379371C>G" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985588C>G" "" "pathogenic" "" "0000047214" "1" "90" "12" "48387772" "48387772" "subst" "0" "00006" "COL2A1_000398" "g.48387772C>A" "" "{PMID:Leung 2006:16395149}" "" "described as exon 11" "" "Unknown" "" "" "0" "" "" "g.47993989C>A" "" "pathogenic" "" "0000047215" "1" "90" "12" "48381390" "48381396" "del" "0" "00818" "COL2A1_000142" "g.48381390_48381396del" "" "{PMID:Richards 2006:16752401}" "" "1219_1221+4del7" "" "Germline" "" "" "0" "" "" "g.47987607_47987613del" "" "pathogenic" "" "0000047216" "0" "90" "12" "48377493" "48377493" "del" "0" "00818" "COL2A1_000143" "g.48377493del" "" "{PMID:Richards 2005:15671297}, {PMID:Richards 2006:16752401}" "" "c.1970delG" "" "Unknown" "" "" "0" "" "" "g.47983710del" "" "pathogenic" "" "0000047217" "0" "90" "12" "48376723" "48376723" "subst" "0" "00818" "COL2A1_000144" "g.48376723G>A" "" "{PMID:Richards 2006:16752401}" "" "p.R701X (R501X)" "" "Unknown" "" "" "0" "" "" "g.47982940G>A" "" "pathogenic" "" "0000047218" "0" "90" "12" "48375592" "48375592" "dup" "0" "00818" "COL2A1_000314" "g.48375592dup" "" "{PMID:Richards 2006:16752401}" "" "c.2381dupC" "" "Unknown" "" "" "0" "" "" "g.47981809dup" "" "pathogenic" "" "0000047219" "0" "90" "12" "48375153" "48375153" "dup" "0" "00818" "COL2A1_000146" "g.48375153dup" "" "{PMID:Richards 2006:16752401}" "" "c.2436dupA" "" "Unknown" "" "" "0" "" "" "g.47981370dup" "" "pathogenic" "" "0000047220" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "{PMID:Richards 2006:16752401}" "" "p.R887X (R687X)" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000047221" "0" "90" "12" "48371883" "48371883" "del" "0" "00818" "COL2A1_000148" "g.48371883del" "" "{PMID:Richards 2006:16752401}" "" "c.3023delG" "" "Unknown" "" "" "0" "" "" "g.47978100del" "" "pathogenic" "" "0000047222" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Richards 2006:16752401}" "" "p.R1036X (R836X)" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047223" "0" "90" "12" "48371416" "48371416" "del" "0" "00818" "COL2A1_000306" "g.48371416del" "" "{PMID:Richards 2006:16752401}" "" "c.3137delC" "" "Unknown" "" "" "0" "" "" "g.47977633del" "" "pathogenic" "" "0000047224" "0" "90" "12" "48370932" "48370932" "subst" "0" "00818" "COL2A1_000151" "g.48370932G>A" "" "{PMID:Richards 2006:16752401}" "" "p.Q1094X (Q894X)" "" "Unknown" "" "" "0" "" "" "g.47977149G>A" "" "pathogenic" "" "0000047225" "0" "90" "12" "48370339" "48370339" "delins" "0" "00818" "COL2A1_000152" "g.48370339delinsCAGCAGGA" "" "{PMID:Richards 2006:16752401}" "" "c.3447delAins8" "" "Unknown" "" "" "0" "" "" "g.47976556delinsCAGCAGGA" "" "pathogenic" "" "0000047226" "0" "90" "12" "48370323" "48370323" "dup" "0" "00818" "COL2A1_000153" "g.48370323dup" "" "{PMID:Richards 2006:16752401}" "" "c.3464dupG" "" "Unknown" "" "" "0" "" "" "g.47976540dup" "" "pathogenic" "" "0000047227" "0" "90" "12" "48369848" "48369848" "del" "0" "00818" "COL2A1_000154" "g.48369848del" "" "{PMID:Richards 2006:16752401}" "" "c.3495delT" "" "Unknown" "" "" "0" "" "" "g.47976065del" "" "pathogenic" "" "0000047228" "0" "90" "12" "48369277" "48369277" "subst" "0" "00818" "COL2A1_000155" "g.48369277G>A" "" "{PMID:Richards 2006:16752401}" "" "p.Q1237X (Q1037X)" "" "Unknown" "" "" "0" "" "" "g.47975494G>A" "" "pathogenic" "" "0000047229" "0" "90" "12" "48391428" "48391428" "del" "0" "00818" "COL2A1_000156" "g.48391428del" "" "{PMID:Richards 2006:16752401}" "" "c.492delT" "" "Unknown" "" "" "0" "" "" "g.47997645del" "" "pathogenic" "" "0000047230" "1" "90" "12" "48371191" "48371191" "subst" "0" "00006" "COL2A1_000158" "g.48371191C>G" "" "{PMID:Sellick 2006:16957471}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977408C>G" "" "pathogenic" "" "0000047231" "1" "90" "12" "48381474" "48381474" "subst" "0" "00006" "COL2A1_000159" "g.48381474C>G" "" "{PMID:Walter 2007:17163530}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987691C>G" "" "pathogenic" "" "0000047232" "1" "90" "12" "48380199" "48380199" "subst" "0" "00006" "COL2A1_000160" "g.48380199C>T" "" "{PMID:Walter 2007:17163530}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986416C>T" "" "pathogenic" "" "0000047233" "1" "90" "12" "48372130" "48372132" "del" "0" "00006" "COL2A1_000161" "g.48372130_48372132del" "" "{PMID:Walter 2007:17163530}" "" "2948_2950delTCG" "" "Unknown" "" "" "0" "" "" "g.47978347_47978349del" "" "pathogenic" "" "0000047234" "1" "90" "12" "48370666" "48370666" "subst" "0" "00006" "COL2A1_000162" "g.48370666C>T" "" "{PMID:Walter 2007:17163530}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976883C>T" "" "pathogenic" "" "0000047235" "1" "90" "12" "48386660" "48386660" "subst" "0" "00006" "COL2A1_000163" "g.48386660C>A" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47992877C>A" "" "pathogenic" "" "0000047236" "1" "90" "12" "48370647" "48370647" "subst" "0" "00006" "COL2A1_000164" "g.48370647C>A" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976864C>A" "" "pathogenic" "" "0000047237" "1" "90" "12" "48371427" "48371427" "subst" "0" "00006" "COL2A1_000165" "g.48371427C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977644C>T" "" "pathogenic" "" "0000047238" "1" "90" "12" "48381401" "48381401" "subst" "0" "00006" "COL2A1_000166" "g.48381401C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987618C>T" "" "pathogenic" "" "0000047239" "1" "90" "12" "48378830" "48378830" "subst" "0" "00006" "COL2A1_000167" "g.48378830C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985047C>T" "" "pathogenic" "" "0000047240" "1" "90" "12" "48376310" "48376310" "subst" "0" "00006" "COL2A1_000168" "g.48376310C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982527C>T" "" "pathogenic" "" "0000047241" "1" "90" "12" "48372514" "48372514" "subst" "0" "00006" "COL2A1_000169" "g.48372514C>G" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978731C>G" "" "pathogenic" "" "0000047242" "1" "90" "12" "48367298" "48367298" "del" "0" "00006" "COL2A1_000170" "g.48367298del" "" "{PMID:Meredith 2007:17347327}" "" "4357delC" "" "Unknown" "" "" "0" "" "" "g.47973515del" "" "pathogenic" "" "0000047243" "11" "99" "12" "48398102" "48398102" "subst" "0" "00818" "COL2A1_000171" "g.48398102C>A" "" "{PMID:Richards 2007:17437277}" "" "" "" "Germline" "" "" "0" "" "" "g.48004319C>A" "" "pathogenic" "" "0000047244" "11" "90" "12" "48391489" "48391489" "subst" "0" "00818" "COL2A1_000172" "g.48391489C>A" "" "{PMID:Richards 2007:17437277}" "" "" "" "Germline" "" "" "0" "" "" "g.47997706C>A" "" "pathogenic" "" "0000047245" "1" "90" "12" "48377499" "48377499" "subst" "0" "00818" "COL2A1_000173" "g.48377499G>A" "" "{PMID:Richards 2007:17437277}" "" "" "" "Germline" "" "" "0" "" "" "g.47983716G>A" "" "pathogenic" "" "0000047246" "0" "99" "12" "48393824" "48393824" "subst" "0" "00818" "COL2A1_000174" "g.48393824C>T" "" "{PMID:McAlinden 2008:17721977}" "" "" "" "Unknown" "" "" "0" "" "" "g.48000041C>T" "" "pathogenic" "" "0000047247" "0" "90" "12" "48393802" "48393802" "subst" "0" "00818" "COL2A1_000175" "g.48393802G>T" "" "{PMID:McAlinden 2008:17721977}" "" "" "" "Unknown" "" "" "0" "" "" "g.48000019G>T" "" "pathogenic" "" "0000047248" "1" "90" "12" "48379554" "48379554" "subst" "0" "00006" "COL2A1_000176" "g.48379554C>A" "" "{PMID:Forzano 2007:17994563}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985771C>A" "" "pathogenic" "" "0000047249" "1" "90" "12" "48380171" "48380178" "delins" "0" "00006" "COL2A1_000177" "g.48380171_48380178delinsA" "" "{PMID:Olavarrieta 2008:18177466}" "" "1468_1475delAAGAGAGGinsT" "" "Unknown" "" "" "0" "" "" "g.47986388_47986395delinsA" "" "pathogenic" "" "0000047250" "1" "90" "12" "48367189" "48398104" "subst" "0" "00006" "COL2A1_000047" "g.(?_48398104)_(48367189_?)del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "ex26 1734-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000047251" "0" "90" "12" "48379337" "48379337" "subst" "0" "00006" "COL2A1_000178" "g.48379337G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985554G>A" "" "pathogenic" "" "0000047252" "0" "90" "12" "48378793" "48378793" "del" "0" "00006" "COL2A1_000179" "g.48378793del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.1821delC Gly606GlyfsX628" "" "Unknown" "" "" "0" "" "" "g.47985010del" "" "pathogenic" "" "0000047253" "0" "90" "12" "48374744" "48374744" "del" "0" "00006" "COL2A1_000180" "g.48374744del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.2471delG Arg824LeufsX880" "" "Unknown" "" "" "0" "" "" "g.47980961del" "" "pathogenic" "" "0000047254" "0" "90" "12" "48369769" "48369769" "subst" "0" "00006" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047255" "0" "90" "12" "48390384" "48390384" "subst" "0" "00006" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047257" "0" "90" "12" "48388215" "48388215" "subst" "0" "00818" "COL2A1_000183" "g.48388215C>G" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47994432C>G" "" "pathogenic" "" "0000047258" "1" "90" "12" "48398031" "48398031" "subst" "0" "00006" "COL2A1_000184" "g.48398031C>G" "" "{PMID:Zechi-Ceide 2008:18541977}" "" "" "" "Unknown" "" "" "0" "" "" "g.48004248C>G" "" "pathogenic" "" "0000047259" "1" "90" "12" "48371846" "48371848" "del" "0" "00006" "COL2A1_000185" "g.48371846_48371848del" "" "{PMID:Smith 2010:20093880}" "" "3056_3058delCTG" "" "Unknown" "" "" "0" "" "" "g.47978063_47978065del" "" "pathogenic" "" "0000047260" "1" "90" "12" "48367189" "48398104" "del" "0" "00818" "COL2A1_000327" "g.(?_48398104)_(48367189_?)del" "" "{PMID:Hoornaert 2010:20179744}" "" "del gene" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000047261" "0" "90" "12" "48381444" "48381444" "del" "0" "00818" "COL2A1_000186" "g.48381444del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987661del" "" "pathogenic" "" "0000047262" "0" "90" "12" "48380913" "48380915" "delins" "0" "00818" "COL2A1_000187" "g.48380913_48380915delinsTG" "" "{PMID:Hoornaert 2010:20179744}" "" "1311_1313delGGGinsCA" "" "Unknown" "" "" "0" "" "" "g.47987130_47987132delinsTG" "" "pathogenic" "" "0000047263" "0" "90" "12" "48380217" "48380218" "ins" "0" "00818" "COL2A1_000188" "g.48380217_48380218insGCCA" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986434_47986435insGCCA" "" "pathogenic" "" "0000047264" "0" "90" "12" "48380171" "48380171" "subst" "0" "00818" "COL2A1_000189" "g.48380171C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986388C>T" "" "pathogenic" "" "0000047265" "1" "90" "12" "48379509" "48379509" "delins" "0" "00818" "COL2A1_000190" "g.48379509delinsTT" "" "{PMID:Hoornaert 2010:20179744}" "" "c.1680+2delGTinsAA" "" "Unknown" "" "" "0" "" "" "g.47985726delinsTT" "" "pathogenic" "" "0000047266" "0" "90" "12" "48378834" "48378834" "subst" "0" "00818" "COL2A1_000191" "g.48378834G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985051G>A" "" "pathogenic" "" "0000047267" "0" "90" "12" "48378783" "48378783" "del" "0" "00818" "COL2A1_000192" "g.48378783del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985000del" "" "pathogenic" "" "0000047268" "0" "90" "12" "48376325" "48376326" "del" "0" "00818" "COL2A1_000194" "g.48376325_48376326del" "" "{PMID:Hoornaert 2010:20179744}" "" "2263_2264delAG" "" "Unknown" "" "" "0" "" "" "g.47982542_47982543del" "" "pathogenic" "" "0000047269" "0" "90" "12" "48375586" "48375586" "del" "0" "00818" "COL2A1_000195" "g.48375586del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47981803del" "" "pathogenic" "" "0000047270" "0" "90" "12" "48374748" "48374748" "subst" "0" "00818" "COL2A1_000196" "g.48374748C>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980965C>A" "" "pathogenic" "" "0000047271" "0" "90" "12" "48374722" "48374722" "dup" "0" "00818" "COL2A1_000197" "g.48374722dup" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980939dup" "" "pathogenic" "" "0000047272" "0" "90" "12" "48374361" "48374377" "del" "0" "00818" "COL2A1_000198" "g.48374361_48374377del" "" "{PMID:Hoornaert 2010:20179744}" "" "2588_2604delCTGGTCCTCAGGGCCCC" "" "Unknown" "" "" "0" "" "" "g.47980578_47980594del" "" "pathogenic" "" "0000047273" "0" "90" "12" "48393718" "48393730" "del" "0" "00818" "COL2A1_000199" "g.48393718_48393730del" "" "{PMID:Hoornaert 2010:20179744}" "" "264_270delCTGCCCA" "" "Unknown" "" "" "0" "" "" "g.47999935_47999947del" "" "pathogenic" "" "0000047274" "0" "90" "12" "48373313" "48373313" "dup" "0" "00818" "COL2A1_000202" "g.48373313dup" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47979530dup" "" "pathogenic" "" "0000047275" "0" "90" "12" "48372467" "48372467" "del" "0" "00818" "COL2A1_000204" "g.48372467del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978684del" "" "pathogenic" "" "0000047276" "0" "90" "12" "48372436" "48372436" "subst" "0" "00818" "COL2A1_000205" "g.48372436G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978653G>A" "" "pathogenic" "" "0000047277" "0" "90" "12" "48371817" "48371823" "delins" "0" "00818" "COL2A1_000206" "g.48371817_48371823delinsCCAGG" "" "{PMID:Hoornaert 2010:20179744}" "" "3081_3087delGACGGGTinsCCTGG Thr1028LeufsX100" "" "Unknown" "" "" "0" "" "" "g.47978034_47978040delinsCCAGG" "" "pathogenic" "" "0000047278" "0" "90" "12" "48371148" "48371148" "del" "0" "00818" "COL2A1_000207" "g.48371148del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3228delT" "" "Unknown" "" "" "0" "" "" "g.47977365del" "" "pathogenic" "" "0000047279" "1" "90" "12" "48370888" "48370888" "del" "0" "00818" "COL2A1_000209" "g.48370888del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977105del" "" "pathogenic" "" "0000047280" "0" "90" "12" "48370638" "48370638" "subst" "0" "00818" "COL2A1_000210" "g.48370638C>G" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976855C>G" "" "pathogenic" "" "0000047281" "0" "90" "12" "48369367" "48369367" "del" "0" "00818" "COL2A1_000211" "g.48369367del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975584del" "" "pathogenic" "" "0000047282" "0" "90" "12" "48369349" "48369349" "dup" "0" "00818" "COL2A1_000212" "g.48369349dup" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975566dup" "" "pathogenic" "" "0000047283" "0" "90" "12" "48369123" "48369124" "del" "0" "00818" "COL2A1_000213" "g.48369123_48369124del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3864_3865delCT" "" "Unknown" "" "" "0" "" "" "g.47975340_47975341del" "" "pathogenic" "" "0000047284" "0" "90" "12" "48369108" "48369108" "subst" "0" "00818" "COL2A1_000214" "g.48369108C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975325C>T" "" "pathogenic" "" "0000047285" "0" "90" "12" "48368636" "48368643" "dup" "0" "00818" "COL2A1_000215" "g.48368636_48368643dup" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3891_3898dupCTACTGGA" "" "Unknown" "" "" "0" "" "" "g.47974853_47974860dup" "" "pathogenic" "" "0000047286" "0" "90" "12" "48368629" "48368629" "del" "0" "00818" "COL2A1_000216" "g.48368629del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3903delC" "" "Unknown" "" "" "0" "" "" "g.47974846del" "" "pathogenic" "" "0000047287" "0" "90" "12" "48389665" "48389665" "subst" "0" "00818" "COL2A1_000217" "g.48389665C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995882C>T" "" "pathogenic" "" "0000047288" "0" "90" "12" "48389546" "48389546" "subst" "0" "00818" "COL2A1_000218" "g.48389546C>G" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995763C>G" "" "pathogenic" "" "0000047289" "0" "90" "12" "48389536" "48389536" "subst" "0" "00818" "COL2A1_000219" "g.48389536C>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995753C>A" "" "pathogenic" "" "0000047290" "0" "90" "12" "48388230" "48388230" "del" "0" "00818" "COL2A1_000220" "g.48388230del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47994447del" "" "pathogenic" "" "0000047291" "0" "90" "12" "48398104" "48398104" "subst" "0" "00818" "COL2A1_000231" "g.48398104T>C" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.48004321T>C" "" "pathogenic" "" "0000047292" "0" "90" "12" "48383580" "48383580" "del" "0" "00818" "COL2A1_000221" "g.48383580del" "" "{PMID:Richards 2010:20513134}" "" "c.1032delA" "" "Unknown" "" "" "0" "" "" "g.47989797del" "" "pathogenic" "" "0000047293" "0" "90" "12" "48381393" "48381393" "del" "0" "00818" "COL2A1_000222" "g.48381393del" "" "{PMID:Richards 2010:20513134}" "" "c.1221+1delG" "" "Unknown" "" "" "0" "" "" "g.47987610del" "" "pathogenic" "" "0000047294" "0" "90" "12" "48393871" "48393871" "subst" "0" "00818" "COL2A1_000223" "g.48393871A>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.48000088A>T" "" "pathogenic" "" "0000047295" "0" "90" "12" "48380916" "48380916" "del" "0" "00818" "COL2A1_000224" "g.48380916del" "" "{PMID:Richards 2010:20513134}" "" "c.1313delG" "" "Unknown" "" "" "0" "" "" "g.47987133del" "" "pathogenic" "" "0000047296" "0" "90" "12" "48380868" "48380868" "subst" "0" "00818" "COL2A1_000225" "g.48380868C>G" "" "{PMID:Richards 2010:20513134}" "" "p.G453A (G253A)" "" "Unknown" "" "" "0" "" "" "g.47987085C>G" "" "pathogenic" "" "0000047297" "0" "90" "12" "48393849" "48393849" "del" "0" "00818" "COL2A1_000226" "g.48393849del" "" "{PMID:Richards 2010:20513134}" "" "c.146delC" "" "Unknown" "" "" "0" "" "" "g.48000066del" "" "pathogenic" "" "0000047298" "0" "90" "12" "48380145" "48380145" "subst" "0" "00818" "COL2A1_000227" "g.48380145C>G" "" "{PMID:Richards 2010:20513134}" "" "p.G501R (G301R)" "" "Unknown" "" "" "0" "" "" "g.47986362C>G" "" "pathogenic" "" "0000047299" "0" "90" "12" "48379591" "48379591" "dup" "0" "00818" "COL2A1_000228" "g.48379591dup" "" "{PMID:Richards 2010:20513134}" "" "c.1602dupG" "" "Unknown" "" "" "0" "" "" "g.47985808dup" "" "pathogenic" "" "0000047300" "0" "90" "12" "48377903" "48377903" "del" "0" "00818" "COL2A1_000229" "g.48377903del" "" "{PMID:Richards 2010:20513134}" "" "c.1908delT" "" "Unknown" "" "" "0" "" "" "g.47984120del" "" "pathogenic" "" "0000047301" "0" "90" "12" "48377520" "48377520" "dup" "0" "00818" "COL2A1_000230" "g.48377520dup" "" "{PMID:Richards 2010:20513134}" "" "c.1943dupG" "" "Unknown" "" "" "0" "" "" "g.47983737dup" "" "pathogenic" "" "0000047302" "0" "90" "12" "48374742" "48374742" "subst" "0" "00818" "COL2A1_000232" "g.48374742C>A" "" "{PMID:Richards 2010:20513134}" "" "p.G825X (625X)" "" "Unknown" "" "" "0" "" "" "g.47980959C>A" "" "pathogenic" "" "0000047303" "0" "90" "12" "48373818" "48373818" "subst" "0" "00818" "COL2A1_000233" "g.48373818C>A" "" "{PMID:Richards 2010:20513134}" "" "p.G885X (685X)" "" "Unknown" "" "" "0" "" "" "g.47980035C>A" "" "pathogenic" "" "0000047304" "0" "90" "12" "48372515" "48372515" "del" "4.1335E-6" "00818" "COL2A1_000234" "g.48372515del" "" "{PMID:Richards 2010:20513134}" "" "c.2760delT" "" "Unknown" "" "" "0" "" "" "g.47978732del" "" "pathogenic" "" "0000047305" "0" "90" "12" "48372490" "48372490" "del" "0" "00818" "COL2A1_000235" "g.48372490del" "" "{PMID:Richards 2010:20513134}" "" "c.2787delA" "" "Unknown" "" "" "0" "" "" "g.47978707del" "" "pathogenic" "" "0000047306" "0" "90" "12" "48372487" "48372487" "del" "0" "00818" "COL2A1_000236" "g.48372487del" "" "{PMID:Richards 2010:20513134}" "" "c.2789delG" "" "Unknown" "" "" "0" "" "" "g.47978704del" "" "pathogenic" "" "0000047307" "0" "90" "12" "48372461" "48372461" "del" "0" "00818" "COL2A1_000237" "g.48372461del" "" "{PMID:Richards 2010:20513134}" "" "c.2814delT" "" "Unknown" "" "" "0" "" "" "g.47978678del" "" "pathogenic" "" "0000047308" "0" "90" "12" "48372406" "48372406" "subst" "0" "00818" "COL2A1_000238" "g.48372406C>A" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978623C>A" "" "pathogenic" "" "0000047309" "0" "90" "12" "48372105" "48372106" "del" "0" "00818" "COL2A1_000239" "g.48372105_48372106del" "" "{PMID:Richards 2010:20513134}" "" "2976_2977delAG" "" "Unknown" "" "" "0" "" "" "g.47978322_47978323del" "" "pathogenic" "" "0000047310" "0" "90" "12" "48370298" "48370298" "del" "0" "00818" "COL2A1_000242" "g.48370298del" "" "{PMID:Richards 2010:20513134}" "" "c.3488delG" "" "Unknown" "" "" "0" "" "" "g.47976515del" "" "pathogenic" "" "0000047311" "0" "90" "12" "48369747" "48369747" "dup" "0" "00818" "COL2A1_000243" "g.48369747dup" "" "{PMID:Richards 2010:20513134}" "" "c.3596dupC" "" "Unknown" "" "" "0" "" "" "g.47975964dup" "" "pathogenic" "" "0000047312" "0" "90" "12" "48369272" "48369272" "subst" "0" "00818" "COL2A1_000244" "g.48369272G>T" "" "{PMID:Richards 2010:20513134}" "" "p.Y1238X" "" "Unknown" "" "" "0" "" "" "g.47975489G>T" "" "pathogenic" "" "0000047313" "0" "90" "12" "48391680" "48391680" "dup" "0" "00818" "COL2A1_000245" "g.48391680dup" "" "{PMID:Richards 2010:20513134}" "" "c.406dupG" "" "Unknown" "" "" "0" "" "" "g.47997897dup" "" "pathogenic" "" "0000047314" "0" "90" "12" "48391416" "48391416" "dup" "0" "00818" "COL2A1_000246" "g.48391416dup" "" "{PMID:Richards 2010:20513134}" "" "c.509dupC" "" "Unknown" "" "" "0" "" "" "g.47997633dup" "" "pathogenic" "" "0000047315" "0" "90" "12" "48390368" "48390368" "del" "0" "00818" "COL2A1_000247" "g.48390368del" "" "{PMID:Richards 2010:20513134}" "" "c.572delC" "" "Unknown" "" "" "0" "" "" "g.47996585del" "" "pathogenic" "" "0000047316" "0" "90" "12" "48389081" "48389081" "subst" "0" "00818" "COL2A1_000248" "g.48389081C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995298C>T" "" "pathogenic" "" "0000047317" "0" "90" "12" "48389079" "48389079" "del" "0" "00818" "COL2A1_000249" "g.48389079del" "" "{PMID:Richards 2010:20513134}" "" "c.724delC" "" "Unknown" "" "" "0" "" "" "g.47995296del" "" "pathogenic" "" "0000047318" "0" "90" "12" "48389044" "48389044" "dup" "0" "00818" "COL2A1_000250" "g.48389044dup" "" "{PMID:Richards 2010:20513134}" "" "c.756dupT" "" "Unknown" "" "" "0" "" "" "g.47995261dup" "" "pathogenic" "" "0000047319" "0" "90" "12" "48387802" "48387802" "subst" "0" "00818" "COL2A1_000251" "g.48387802C>T" "" "{PMID:Richards 2010:20513134}" "" "p.G282D (G82D)" "" "Unknown" "" "" "0" "" "" "g.47994019C>T" "" "pathogenic" "" "0000047320" "0" "90" "12" "48387618" "48387621" "del" "0" "00818" "COL2A1_000252" "g.48387618_48387621del" "" "{PMID:Richards 2010:20513134}" "" "c.895_898delAAGG" "" "Unknown" "" "" "0" "" "" "g.47993835_47993838del" "" "pathogenic" "" "0000047321" "0" "90" "12" "48386689" "48386690" "del" "0" "00818" "COL2A1_000254" "g.48386689_48386690del" "" "{PMID:Richards 2010:20513134}" "" "c.996_997delAG" "" "Unknown" "" "" "0" "" "" "g.47992906_47992907del" "" "pathogenic" "" "0000047322" "1" "90" "12" "48375942" "48375942" "subst" "0" "00006" "COL2A1_000255" "g.48375942C>T" "" "{PMID:Comstock 2010:20583175}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982159C>T" "" "pathogenic" "" "0000047323" "0" "90" "12" "48370938" "48370938" "subst" "0" "00818" "COL2A1_000256" "g.48370938C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47977155C>T" "" "pathogenic" "" "0000047324" "0" "70" "12" "48372456" "48372456" "subst" "0.000249375" "00818" "COL2A1_000257" "g.48372456C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978673C>T" "" "likely pathogenic" "" "0000047325" "0" "70" "12" "48371111" "48371111" "subst" "0" "00818" "COL2A1_000258" "g.48371111C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977328C>T" "" "likely pathogenic" "" "0000047326" "0" "70" "12" "48367249" "48367249" "subst" "0" "00818" "COL2A1_000259" "g.48367249C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47973466C>A" "" "likely pathogenic" "" "0000047327" "0" "70" "12" "48380127" "48380127" "subst" "0" "00818" "COL2A1_000267" "g.48380127C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986344C>T" "" "likely pathogenic" "" "0000047328" "0" "90" "12" "48389665" "48389665" "subst" "0" "00818" "COL2A1_000217" "g.48389665C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995882C>T" "" "pathogenic" "" "0000047329" "0" "90" "12" "48375152" "48375152" "subst" "0" "00818" "COL2A1_000261" "g.48375152C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47981369C>T" "" "pathogenic" "" "0000047330" "0" "50" "12" "48391486" "48391486" "subst" "0" "00818" "COL2A1_000262" "g.48391486G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47997703G>A" "" "VUS" "" "0000047331" "0" "90" "12" "48381401" "48381401" "subst" "0" "00818" "COL2A1_000166" "g.48381401C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987618C>T" "" "pathogenic" "" "0000047332" "0" "90" "12" "48377167" "48377167" "subst" "0" "00818" "COL2A1_000263" "g.48377167C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983384C>T" "" "pathogenic" "" "0000047333" "0" "90" "12" "48370314" "48370314" "subst" "0" "00818" "COL2A1_000264" "g.48370314C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47976531C>T" "" "pathogenic" "" "0000047334" "0" "90" "12" "48380136" "48380136" "subst" "0" "00818" "COL2A1_000121" "g.48380136C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000047335" "0" "90" "12" "48389509" "48389509" "subst" "0" "00818" "COL2A1_000265" "g.48389509C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995726C>T" "" "pathogenic" "" "0000047336" "0" "90" "12" "48368457" "48368458" "del" "0" "00818" "COL2A1_000266" "g.48368457_48368458del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47974674_47974675del" "" "pathogenic" "" "0000047337" "11" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047338" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047339" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047340" "0" "90" "12" "48380673" "48380673" "subst" "0" "00818" "COL2A1_000268" "g.48380673T>A" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47986890T>A" "" "pathogenic" "" "0000047341" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047342" "0" "90" "12" "48389093" "48389093" "subst" "0" "00818" "COL2A1_000270" "g.48389093T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995310T>C" "" "pathogenic" "" "0000047343" "0" "90" "12" "48371410" "48371410" "del" "0" "00818" "COL2A1_000307" "g.48371410del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977627del" "" "pathogenic" "" "0000047345" "0" "90" "12" "48376911" "48376911" "subst" "0" "00818" "COL2A1_000272" "g.48376911C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983128C>G" "" "pathogenic" "" "0000047346" "0" "90" "12" "48373798" "48373798" "dup" "0" "00818" "COL2A1_000201" "g.48373798dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980015dup" "" "pathogenic" "" "0000047348" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047349" "0" "70" "12" "48380961" "48380961" "subst" "0" "00818" "COL2A1_000274" "g.48380961T>C" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.47987178T>C" "" "likely pathogenic" "" "0000047350" "11" "30" "12" "48367873" "48367873" "subst" "7.73018E-5" "00818" "COL2A1_000081" "g.48367873G>A" "" "" "" "" "de novo, in father" "De novo" "" "" "0" "" "" "g.47974090G>A" "" "likely benign" "" "0000047351" "0" "30" "12" "48367873" "48367873" "subst" "7.73018E-5" "00818" "COL2A1_000081" "g.48367873G>A" "" "{PMID:Unger 2001:11746045}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974090G>A" "" "likely benign" "" "0000047352" "0" "90" "12" "48374724" "48374724" "subst" "0" "00818" "COL2A1_000275" "g.48374724C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980941C>T" "" "pathogenic" "" "0000047353" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047354" "0" "90" "12" "48383578" "48383578" "subst" "0" "00818" "COL2A1_000269" "g.48383578C>T" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.47989795C>T" "" "pathogenic" "" "0000047355" "0" "90" "12" "48370331" "48370331" "subst" "0" "00818" "COL2A1_000276" "g.48370331C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47976548C>T" "" "pathogenic" "" "0000047356" "0" "90" "12" "48398035" "48398035" "subst" "0" "00818" "COL2A1_000277" "g.48398035G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48004252G>A" "" "pathogenic" "" "0000047357" "0" "99" "12" "48393761" "48393783" "dup" "0" "00818" "COL2A1_000278" "g.48393761_48393783dup" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47999978_48000000dup" "" "pathogenic" "" "0000047358" "0" "90" "12" "48391951" "48391951" "subst" "0" "00818" "COL2A1_000279" "g.48391951C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47998168C>T" "" "pathogenic" "" "0000047359" "0" "90" "12" "48391491" "48391491" "subst" "0" "00818" "COL2A1_000280" "g.48391491C>G" "" "{PMID:Hoornaert 2010:20179744}" "" "" "cDNA analysis reveals that this splice site mutation generate 3 RNA isoforms" "Unknown" "" "" "0" "" "" "g.47997708C>G" "" "pathogenic" "" "0000047360" "0" "90" "12" "48391428" "48391428" "del" "0" "00818" "COL2A1_000281" "g.48391428del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.492delT" "" "Unknown" "" "" "0" "" "" "g.47997645del" "" "pathogenic" "" "0000047361" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047362" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047363" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047364" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047365" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Ahmad 1993:08434604}" "" "p.Arg9* in exon 7" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047366" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Ahmad 1993:08434604}" "" "p.Arg9* in exon 7" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047367" "0" "90" "12" "48389657" "48389657" "subst" "0" "00818" "COL2A1_000284" "g.48389657C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995874C>T" "" "pathogenic" "" "0000047368" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000100" "g.48389056del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047369" "0" "70" "12" "48387772" "48387772" "subst" "0" "00818" "COL2A1_000285" "g.48387772C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993989C>T" "" "likely pathogenic" "" "0000047370" "0" "90" "12" "48387286" "48387286" "subst" "0" "00818" "COL2A1_000286" "g.48387286C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993503C>T" "" "pathogenic" "" "0000047371" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047372" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047373" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "p.R9X in exon 7" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047374" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R333X in exon 23" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047375" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R333X in exon 23" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047376" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R732X in exon 40" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047377" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "{PMID:Liberfarb 2003:12544472}" "" "R732X in exon 40" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047378" "0" "90" "12" "48381493" "48381493" "subst" "0" "00818" "COL2A1_000287" "g.48381493C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987710C>T" "" "pathogenic" "" "0000047379" "0" "90" "12" "48381393" "48381393" "subst" "0" "00818" "COL2A1_000288" "g.48381393C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987610C>T" "" "pathogenic" "" "0000047380" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047381" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047382" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047383" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047384" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047385" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047386" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047387" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047388" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047389" "0" "90" "12" "48377925" "48377925" "subst" "0" "00818" "COL2A1_000290" "g.48377925T>C" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984142T>C" "" "pathogenic" "" "0000047390" "0" "90" "12" "48377884" "48377884" "del" "0" "00818" "COL2A1_000133" "g.48377884del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984101del" "" "pathogenic" "" "0000047391" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047392" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047393" "0" "90" "12" "48376875" "48376875" "subst" "0" "00818" "COL2A1_000291" "g.48376875C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983092C>T" "" "pathogenic" "" "0000047394" "0" "90" "12" "48376730" "48376730" "subst" "0" "00818" "COL2A1_000292" "g.48376730C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982947C>T" "" "pathogenic" "" "0000047395" "0" "90" "12" "48376723" "48376723" "subst" "0" "00818" "COL2A1_000144" "g.48376723G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982940G>A" "" "pathogenic" "" "0000047396" "0" "90" "12" "48376723" "48376723" "subst" "0" "00818" "COL2A1_000144" "g.48376723G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982940G>A" "" "pathogenic" "" "0000047397" "0" "90" "12" "48376629" "48376629" "subst" "0" "00818" "COL2A1_000273" "g.48376629A>G" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982846A>G" "" "pathogenic" "" "0000047398" "0" "90" "12" "48376322" "48376329" "del" "0" "00818" "COL2A1_000193" "g.48376322_48376329del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.2257_2264delGGCGAGAG" "" "Unknown" "" "" "0" "" "" "g.47982539_47982546del" "" "pathogenic" "" "0000047399" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047400" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047401" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047402" "0" "90" "12" "48375885" "48375885" "subst" "0" "00818" "COL2A1_000294" "g.48375885C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982102C>T" "" "pathogenic" "" "0000047403" "0" "90" "12" "48375885" "48375885" "subst" "0" "00818" "COL2A1_000294" "g.48375885C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982102C>T" "" "pathogenic" "" "0000047404" "0" "90" "12" "48375592" "48375592" "dup" "0" "00818" "COL2A1_000145" "g.48375592dup" "" "{PMID:Hoornaert 2010:20179744}" "" "c.2381dupC" "" "Unknown" "" "" "0" "" "" "g.47981809dup" "" "pathogenic" "" "0000047405" "0" "90" "12" "48375586" "48375586" "del" "0" "00818" "COL2A1_000195" "g.48375586del" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47981803del" "" "pathogenic" "" "0000047406" "0" "90" "12" "48374696" "48374696" "subst" "0" "00818" "COL2A1_000295" "g.48374696A>C" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980913A>C" "" "pathogenic" "" "0000047407" "0" "90" "12" "48374445" "48374445" "subst" "0" "00818" "COL2A1_000296" "g.48374445C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980662C>T" "" "pathogenic" "" "0000047408" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000047409" "0" "90" "12" "48373798" "48373798" "dup" "0" "00818" "COL2A1_000201" "g.48373798dup" "" "{PMID:Hoornaert 2010:20179744}" "" "c.2673dupC" "" "Unknown" "" "" "0" "" "" "g.47980015dup" "" "pathogenic" "" "0000047410" "0" "90" "12" "48373798" "48373798" "del" "0" "00818" "COL2A1_000200" "g.48373798del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.2673delC" "" "Unknown" "" "" "0" "" "" "g.47980015del" "" "pathogenic" "" "0000047411" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047412" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047413" "0" "90" "12" "48373308" "48373308" "dup" "0" "00818" "COL2A1_000203" "g.48373308dup" "" "{PMID:Hoornaert 2010:20179744}" "" "c.2719dupC" "" "Unknown" "" "" "0" "" "" "g.47979525dup" "" "pathogenic" "" "0000047414" "0" "90" "12" "48372413" "48372413" "subst" "0" "00818" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "creates a cryptic splice site in exon 42" "Unknown" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000047415" "0" "90" "12" "48372073" "48372073" "subst" "0" "00818" "COL2A1_000301" "g.48372073C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978290C>T" "" "pathogenic" "" "0000047416" "0" "90" "12" "48372069" "48372069" "subst" "0" "00818" "COL2A1_000302" "g.48372069C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "cDNA analysis reveals that this splice site mutation generate 2 RNA isoforms" "Unknown" "" "" "0" "" "" "g.47978286C>T" "" "pathogenic" "" "0000047417" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Richards 2006:16752401}" "" "p.R1036X (R836X)" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047418" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047419" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047420" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047421" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047422" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047423" "0" "90" "12" "48371792" "48371792" "subst" "0" "00818" "COL2A1_000303" "g.48371792C>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978009C>A" "" "pathogenic" "" "0000047424" "0" "90" "12" "48371437" "48371437" "subst" "0" "00818" "COL2A1_000304" "g.48371437C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977654C>T" "" "pathogenic" "" "0000047425" "0" "90" "12" "48371416" "48371416" "del" "0" "00818" "COL2A1_000306" "g.48371416del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3137delC" "" "Unknown" "" "" "0" "" "" "g.47977633del" "" "pathogenic" "" "0000047426" "0" "90" "12" "48371416" "48371416" "dup" "0" "00818" "COL2A1_000305" "g.48371416dup" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3137dupC" "" "Unknown" "" "" "0" "" "" "g.47977633dup" "" "pathogenic" "" "0000047427" "0" "90" "12" "48371410" "48371410" "del" "0" "00818" "COL2A1_000307" "g.48371410del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3138delT" "" "Unknown" "" "" "0" "" "" "g.47977627del" "" "pathogenic" "" "0000047428" "0" "90" "12" "48371115" "48371118" "del" "0" "00818" "COL2A1_000208" "g.48371115_48371118del" "" "{PMID:Hoornaert 2010:20179744}" "" "c.3258_3261delAGAC" "" "Unknown" "" "" "0" "" "" "g.47977332_47977335del" "" "pathogenic" "" "0000047429" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047430" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047431" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047432" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047433" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047434" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047435" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047436" "0" "90" "12" "48368457" "48368457" "subst" "0" "00818" "COL2A1_000308" "g.48368457C>A" "" "{PMID:Hoornaert 2010:20179744}" "" "" "cDNA analysis reveals that this splice site mutation generate 2 RNA isoforms\r\np.(Gln1237_Leu1411del) was published as p.(Gln1238_Leu1411del)" "Unknown" "" "" "0" "" "" "g.47974674C>A" "" "pathogenic" "" "0000047437" "0" "90" "12" "48367870" "48367870" "subst" "0" "00818" "COL2A1_000309" "g.48367870A>G" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974087A>G" "" "pathogenic" "" "0000047438" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "{PMID:Richards 2000:10729292}, {PMID:Richards 2006:16752401}" "" "25716 C-T in exon 42: R732X" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047439" "0" "90" "12" "48391428" "48391428" "del" "0" "00818" "COL2A1_000313" "g.48391428del" "" "{PMID:Richards 2006:16752401}" "" "c.492delT" "" "Unknown" "" "" "0" "" "" "g.47997645del" "" "pathogenic" "" "0000047440" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Richards 2000:11007540}, {PMID:Richards 2006:16752401}" "" "R365C C->T" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047441" "0" "90" "12" "48398079" "48398079" "subst" "0" "00818" "COL2A1_000310" "g.48398079G>T" "" "{PMID:Richards 2006:16752401}" "" "p.S9X according to NM_001844.3" "" "Unknown" "" "" "0" "" "" "g.48004296G>T" "" "pathogenic" "" "0000047442" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Richards 2006:16752401}" "" "p.R344X (R144X)" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047443" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Richards 2006:16752401}" "" "g.20711C>T (R453X)" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047444" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Richards 2005:15671297}, {PMID:Richards 2006:16752401}" "" "g.20711C>T (R453X)" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047445" "0" "70" "12" "48389665" "48389665" "subst" "0" "00818" "COL2A1_000217" "g.48389665C>T" "" "{PMID:Hoornaert 2010:20179744}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995882C>T" "" "likely pathogenic" "" "0000047446" "0" "70" "12" "48371894" "48371894" "del" "0" "00818" "COL2A1_000311" "g.48371894del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978111del" "" "likely pathogenic" "" "0000047447" "0" "90" "12" "48393830" "48393831" "del" "0" "00818" "COL2A1_000058" "g.48393830_48393831del" "" "{PMID:Richards 2010:20513134}" "" "c.166_167delGT" "" "Unknown" "" "" "0" "" "" "g.48000047_48000048del" "" "pathogenic" "" "0000047448" "0" "99" "12" "48393802" "48393802" "subst" "0" "00818" "COL2A1_000175" "g.48393802G>T" "" "{PMID:McAlinden 2008:17721977}" "" "" "" "Unknown" "" "" "0" "" "" "g.48000019G>T" "" "pathogenic" "" "0000047449" "0" "90" "12" "48393802" "48393802" "subst" "0" "00818" "COL2A1_000175" "g.48393802G>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.48000019G>T" "" "pathogenic" "" "0000047450" "0" "90" "12" "48393761" "48393783" "dup" "0" "00818" "COL2A1_000278" "g.48393761_48393783dup" "" "{PMID:Richards 2010:20513134}" "" "c.211_233dup23" "" "Unknown" "" "" "0" "" "" "g.47999978_48000000dup" "" "pathogenic" "" "0000047451" "0" "90" "12" "48392215" "48392215" "subst" "0" "00818" "COL2A1_000312" "g.48392215C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47998432C>T" "" "pathogenic" "" "0000047452" "0" "90" "12" "48391428" "48391428" "del" "0" "00818" "COL2A1_000156" "g.48391428del" "" "{PMID:Richards 2006:16752401}" "" "c.492delT" "" "Unknown" "" "" "0" "" "" "g.47997645del" "" "pathogenic" "" "0000047453" "0" "90" "12" "48391428" "48391428" "del" "0" "00818" "COL2A1_000156" "g.48391428del" "" "{PMID:Richards 2010:20513134}" "" "c.492delT" "" "Unknown" "" "" "0" "" "" "g.47997645del" "" "pathogenic" "" "0000047454" "0" "70" "12" "48387776" "48387776" "subst" "0" "00818" "COL2A1_000315" "g.48387776C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993993C>T" "" "likely pathogenic" "" "0000047455" "0" "90" "12" "48387277" "48387280" "del" "0" "00818" "COL2A1_000253" "g.48387277_48387280del" "" "{PMID:Richards 2010:20513134}" "" "c.930_933delGAGT" "" "Unknown" "" "" "0" "" "" "g.47993494_47993497del" "" "pathogenic" "" "0000047456" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R344X (R144X)" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047457" "0" "90" "12" "48383582" "48383582" "subst" "0" "00818" "COL2A1_000086" "g.48383582G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R344X (R144X)" "" "Unknown" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000047458" "0" "70" "12" "48381393" "48381393" "subst" "0" "00818" "COL2A1_000316" "g.48381393C>G" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987610C>G" "" "likely pathogenic" "" "0000047459" "0" "50" "12" "48379984" "48379984" "subst" "0" "00818" "COL2A1_000317" "g.48379984C>T" "" "{PMID:Richards 2010:20513134}" "" "" "Produce Cryptic splice site with insertion of 234bp + premature terminal codon." "Unknown" "" "" "0" "" "" "g.47986201C>T" "" "VUS" "" "0000047460" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R533X (R333X)" "" "Unknown" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047461" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R565C (R365C)" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047462" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047463" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047464" "0" "90" "12" "48378777" "48378777" "subst" "0" "00818" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000047465" "0" "90" "12" "48377924" "48377924" "subst" "0" "00818" "COL2A1_000318" "g.48377924C>G" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984141C>G" "" "pathogenic" "" "0000047466" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R653X (R453X)" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047467" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R653X (R453X)" "" "Unknown" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000047468" "0" "90" "12" "48376723" "48376723" "subst" "0" "00818" "COL2A1_000144" "g.48376723G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R701X (R501X)" "" "Unknown" "" "" "0" "" "" "g.47982940G>A" "" "pathogenic" "" "0000047469" "0" "90" "12" "48376393" "48376393" "subst" "0" "00818" "COL2A1_000319" "g.48376393C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982610C>T" "" "pathogenic" "" "0000047470" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R785X (585X)" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047471" "0" "90" "12" "48374697" "48374697" "subst" "0" "00818" "COL2A1_000320" "g.48374697C>G" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980914C>G" "" "pathogenic" "" "0000047472" "0" "90" "12" "48374336" "48374336" "subst" "0" "00818" "COL2A1_000321" "g.48374336C>A" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980553C>A" "" "pathogenic" "" "0000047473" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R904C (R704C)" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047474" "0" "90" "12" "48372467" "48372467" "dup" "0" "00818" "COL2A1_000061" "g.48372467dup" "" "{PMID:Richards 2010:20513134}" "" "c.2813dupC" "" "Unknown" "" "" "0" "" "" "g.47978684dup" "" "pathogenic" "" "0000047475" "0" "90" "12" "48372413" "48372413" "subst" "0" "00818" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Richards 2010:20513134}" "" "p.G954 (G754) create cryptic splice site gcgaga>gtgaga" "" "Unknown" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000047476" "0" "90" "12" "48372413" "48372413" "subst" "0" "00818" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Richards 2010:20513134}" "" "p.G954 (G754) create cryptic splice site gcgaga>gtgaga" "" "Unknown" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000047477" "0" "90" "12" "48372413" "48372413" "subst" "0" "00818" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Richards 2010:20513134}" "" "p.G954 (G754) create cryptic splice site gcgaga>gtgaga" "" "Unknown" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000047478" "0" "90" "12" "48372182" "48372182" "subst" "0" "00818" "COL2A1_000322" "g.48372182C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978399C>T" "" "pathogenic" "" "0000047479" "0" "90" "12" "48372075" "48372109" "del" "0" "00818" "COL2A1_000323" "g.48372075_48372109del" "" "" "" "c.2974_3003+5del36" "" "Unknown" "" "" "0" "" "" "g.47978292_47978326del" "" "pathogenic" "" "0000047480" "0" "90" "12" "48372073" "48372073" "subst" "0" "00818" "COL2A1_000301" "g.48372073C>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978290C>T" "" "pathogenic" "" "0000047481" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R1036X (R836X)" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047482" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R1036X (R836X)" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047483" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Richards 2010:20513134}" "" "p.R1036X (R836X)" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047484" "0" "90" "12" "48371410" "48371410" "del" "0" "00818" "COL2A1_000307" "g.48371410del" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977627del" "" "pathogenic" "" "0000047485" "0" "90" "12" "48371113" "48371114" "del" "0" "00818" "COL2A1_000324" "g.48371113_48371114del" "" "{PMID:Richards 2010:20513134}" "" "c.3263_3264delGA" "" "Unknown" "" "" "0" "" "" "g.47977330_47977331del" "" "pathogenic" "" "0000047486" "0" "90" "12" "48370313" "48370313" "subst" "0" "00818" "COL2A1_000241" "g.48370313C>G" "" "{PMID:Richards 2010:20513134}" "" "c.3474G>C p.G1158A (G958A)" "" "Unknown" "" "" "0" "" "" "g.47976530C>G" "" "pathogenic" "" "0000047487" "0" "90" "12" "48369099" "48369099" "subst" "0" "00818" "COL2A1_000325" "g.48369099C>T" "" "{PMID:Richards 2010:20513134}" "" "exon 51 skip" "" "Unknown" "" "" "0" "" "" "g.47975316C>T" "" "pathogenic" "" "0000047488" "0" "90" "12" "48369099" "48369099" "subst" "0" "00818" "COL2A1_000325" "g.48369099C>T" "" "{PMID:Richards 2010:20513134}" "" "exon 51 skip" "" "Unknown" "" "" "0" "" "" "g.47975316C>T" "" "pathogenic" "" "0000047489" "0" "90" "12" "48369098" "48369098" "subst" "0" "00818" "COL2A1_000326" "g.48369098A>G" "" "{PMID:Richards 2010:20513134}" "" "exon 51 skip" "" "Unknown" "" "" "0" "" "" "g.47975315A>G" "" "pathogenic" "" "0000047490" "0" "90" "12" "48367189" "48398104" "del" "0" "00818" "COL2A1_000327" "g.(?_48398104)_(48367189_?)del" "" "{PMID:Richards 2010:20513134}" "" "Del exons 1-54 Gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000047491" "0" "90" "12" "48367189" "48398104" "del" "0" "00818" "COL2A1_000327" "g.(?_48398104)_(48367189_?)del" "" "{PMID:Richards 2010:20513134}" "" "Del exons 1-54 Gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000047492" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.616C>T Arg75Cys" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000047493" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.1486C>T Arg365Cys" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047494" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.1486C>T Arg365Cys" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047495" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.1486C>T Arg365Cys" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047496" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.1948C>T" "" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047497" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.2503C>T Arg704Cys" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047498" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.2503c>T Arg704Cys" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047499" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.2758c>T Arg789Cys" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047500" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.2758C>T (Arg789Cys)" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047501" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.2758c>T Arg789Cys" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047502" "0" "90" "12" "48369160" "48369160" "subst" "1.21859E-5" "00818" "COL2A1_000141" "g.48369160G>A" "" "{PMID:Hoornaert 2006:16155195}" "" "c.3619C>T Arg1076Cys" "" "Unknown" "" "" "0" "" "" "g.47975377G>A" "" "pathogenic" "" "0000047503" "0" "90" "12" "48389093" "48389093" "subst" "0" "00818" "COL2A1_000270" "g.48389093T>C" "" "{PMID:Miyamoto 2005:16189708}" "" "" "Skipping of exon 11 and of exons 11 and 13" "Unknown" "" "" "0" "" "" "g.47995310T>C" "" "pathogenic" "" "0000047504" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047505" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047506" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047507" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047508" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047509" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047510" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047511" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047512" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047513" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047514" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047515" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047516" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047517" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047518" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047519" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047520" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047521" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047522" "0" "90" "12" "48390384" "48390384" "subst" "0" "00818" "COL2A1_000182" "g.48390384C>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47996601C>A" "" "pathogenic" "" "0000047523" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047524" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047525" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047526" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047527" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047528" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047529" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047530" "0" "90" "12" "48390359" "48390359" "dup" "0" "00818" "COL2A1_000328" "g.48390359dup" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.583dupC Gln195GlufsX229" "" "Unknown" "" "" "0" "" "" "g.47996576dup" "" "pathogenic" "" "0000047531" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047532" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047533" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047534" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047535" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047536" "0" "90" "12" "48389056" "48389056" "del" "0" "00818" "COL2A1_000329" "g.48389056del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.744delT Pro248ProfsX307" "" "Unknown" "" "" "0" "" "" "g.47995273del" "" "pathogenic" "" "0000047537" "0" "90" "12" "48379337" "48379337" "subst" "0" "00818" "COL2A1_000178" "g.48379337G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985554G>A" "" "pathogenic" "" "0000047538" "0" "90" "12" "48378793" "48378793" "del" "0" "00818" "COL2A1_000179" "g.48378793del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.1821delC Gly606GlyfsX628" "" "Unknown" "" "" "0" "" "" "g.47985010del" "" "pathogenic" "" "0000047539" "0" "90" "12" "48376723" "48376723" "subst" "0" "00818" "COL2A1_000144" "g.48376723G>A" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982940G>A" "" "pathogenic" "" "0000047540" "0" "90" "12" "48375889" "48375889" "subst" "0" "00818" "COL2A1_000330" "g.48375889C>T" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982106C>T" "" "pathogenic" "" "0000047541" "0" "90" "12" "48374744" "48374744" "del" "0" "00818" "COL2A1_000180" "g.48374744del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.2471delG Arg824LeufsX880" "" "Unknown" "" "" "0" "" "" "g.47980961del" "" "pathogenic" "" "0000047542" "0" "90" "12" "48374744" "48374744" "del" "0" "00818" "COL2A1_000180" "g.48374744del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.2471delG Arg824LeufsX880" "" "Unknown" "" "" "0" "" "" "g.47980961del" "" "pathogenic" "" "0000047543" "0" "90" "12" "48374744" "48374744" "del" "0" "00818" "COL2A1_000180" "g.48374744del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.2471delG Arg824LeufsX880" "" "Unknown" "" "" "0" "" "" "g.47980961del" "" "pathogenic" "" "0000047544" "0" "90" "12" "48371416" "48371416" "del" "0" "00818" "COL2A1_000306" "g.48371416del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.3137delC Pro1046LeufsX1129" "" "Unknown" "" "" "0" "" "" "g.47977633del" "" "pathogenic" "" "0000047545" "0" "90" "12" "48371416" "48371416" "del" "0" "00818" "COL2A1_000306" "g.48371416del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.3137delC Pro1046LeufsX1129" "" "Unknown" "" "" "0" "" "" "g.47977633del" "" "pathogenic" "" "0000047546" "0" "90" "12" "48369745" "48369745" "subst" "0" "00818" "COL2A1_000331" "g.48369745C>T" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975962C>T" "" "pathogenic" "" "0000047547" "0" "90" "12" "48369745" "48369745" "subst" "0" "00818" "COL2A1_000331" "g.48369745C>T" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975962C>T" "" "pathogenic" "" "0000047548" "0" "90" "12" "48369745" "48369745" "subst" "0" "00818" "COL2A1_000331" "g.48369745C>T" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975962C>T" "" "pathogenic" "" "0000047549" "0" "90" "12" "48369362" "48369362" "del" "0" "00818" "COL2A1_000332" "g.48369362del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.3624delT Pro1208ProfsX1248" "" "Unknown" "" "" "0" "" "" "g.47975579del" "" "pathogenic" "" "0000047550" "0" "90" "12" "48369362" "48369362" "del" "0" "00818" "COL2A1_000332" "g.48369362del" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "c.3624delT Pro1208ProfsX1248" "" "Unknown" "" "" "0" "" "" "g.47975579del" "" "pathogenic" "" "0000047551" "0" "90" "12" "48380886" "48380886" "subst" "0" "00818" "COL2A1_000333" "g.48380886C>G" "" "{PMID:Zhang 2011:21924244}" "" "" "" "Germline" "" "" "0" "" "" "g.47987103C>G" "" "pathogenic" "" "0000047552" "0" "90" "12" "48380886" "48380886" "subst" "0" "00818" "COL2A1_000333" "g.48380886C>G" "" "{PMID:Zhang 2011:21924244}" "" "" "" "De novo" "" "" "0" "" "" "g.47987103C>G" "" "pathogenic" "" "0000047553" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Zhang 2011:21924244}" "" "R789C" "" "Germline" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047554" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Zhang 2011:21924244}" "" "R789C" "" "Germline" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047555" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Zhang 2011:21924244}" "" "R789C" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047556" "0" "90" "12" "48380670" "48380670" "subst" "0" "00818" "COL2A1_000334" "g.48380670C>G" "" "{PMID:Zhang 2011:21924244}" "" "" "" "Germline" "" "" "0" "" "" "g.47986887C>G" "" "pathogenic" "" "0000047557" "0" "90" "12" "48380670" "48380670" "subst" "0" "00818" "COL2A1_000334" "g.48380670C>G" "" "{PMID:Zhang 2011:21924244}" "" "" "" "De novo" "" "" "0" "" "" "g.47986887C>G" "" "pathogenic" "" "0000047558" "0" "90" "12" "48370331" "48370331" "subst" "0" "00818" "COL2A1_000276" "g.48370331C>T" "" "{PMID:Zhang 2011:21924244}" "" "" "" "Germline" "" "" "0" "" "" "g.47976548C>T" "" "pathogenic" "" "0000047559" "0" "90" "12" "48370331" "48370331" "subst" "0" "00818" "COL2A1_000276" "g.48370331C>T" "" "{PMID:Zhang 2011:21924244}" "" "" "" "De novo" "" "" "0" "" "" "g.47976548C>T" "" "pathogenic" "" "0000047560" "0" "90" "12" "48393736" "48393736" "subst" "0" "00818" "COL2A1_000084" "g.48393736G>T" "" "{PMID:Parma 2002:12429250}" "" "p.(Cys86*)" "" "Germline" "" "" "0" "" "" "g.47999953G>T" "" "pathogenic" "" "0000047561" "0" "70" "12" "48369816" "48369816" "subst" "0" "00818" "COL2A1_000335" "g.48369816C>A" "" "{PMID:Cao 2012:23079993}" "" "c.3527G>T" "" "De novo" "" "" "0" "" "" "g.47976033C>A" "" "likely pathogenic" "" "0000047562" "0" "70" "12" "48375567" "48375567" "subst" "0" "00818" "COL2A1_000336" "g.48375567C>T" "" "{PMID:Cao 2012:23079993}" "" "c.2401G>A" "" "Germline" "" "" "0" "" "" "g.47981784C>T" "" "likely pathogenic" "" "0000047563" "0" "70" "12" "48380136" "48380136" "subst" "0" "00818" "COL2A1_000121" "g.48380136C>T" "" "{PMID:Cao 2012:23079993}" "" "c.1510G>A" "" "Germline" "" "" "0" "" "" "g.47986353C>T" "" "likely pathogenic" "" "0000047564" "0" "90" "12" "48379729" "48379729" "subst" "0" "00818" "COL2A1_000095" "g.48379729C>T" "" "{PMID:FAIVRE 2004:15054848}" "" "c.1340G>A" "" "De novo" "" "" "0" "" "" "g.47985946C>T" "" "pathogenic" "" "0000047565" "11" "99" "12" "48380671" "48380671" "subst" "0" "00818" "COL2A1_000337" "g.48380671C>G" "" "{PMID:Nagendran 2012:22496037}" "" "c.1366G>C" "somatic mosaicism" "Germline" "" "" "0" "" "" "g.47986888C>G" "" "pathogenic" "" "0000047566" "21" "79" "12" "48373787" "48373787" "subst" "0" "00818" "COL2A1_000338" "g.48373787C>G" "" "{PMID:Nagendran 2012:22496037}" "" "c.2679+5G>C" "somatic mosaicism" "Germline" "" "" "0" "" "" "g.47980004C>G" "" "likely pathogenic" "" "0000047567" "11" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Nagendran 2012:22496037}" "" "c.2710C>T" "somatic mosaicism" "Germline" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047568" "0" "97" "12" "48377521" "48377521" "subst" "0" "00818" "COL2A1_000339" "g.48377521T>C" "" "{PMID:Nagendran 2012:22496037}" "" "c.1942-2A>G" "somatic mosaicism" "De novo" "" "" "0" "" "" "g.47983738T>C" "" "pathogenic" "" "0000047569" "0" "90" "12" "48379594" "48379594" "subst" "0" "00818" "COL2A1_000088" "g.48379594G>A" "" "{PMID:Nagendran 2012:22496037}" "" "c.1597C>T" "somatic mosaicism" "Germline" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000047570" "10" "79" "12" "48381098" "48381098" "subst" "0" "00818" "COL2A1_000021" "g.48381098T>C" "0/114" "{PMID:Williams 1996:08737653}" "" "A-2>G (IVS17)" "" "Germline" "" "" "0" "" "" "g.47987315T>C" "" "likely pathogenic" "" "0000047571" "0" "79" "12" "48381098" "48381098" "subst" "0" "00818" "COL2A1_000021" "g.48381098T>C" "0/114" "{PMID:Williams 1996:08737653}" "" "A-2>G (IVS17)" "" "Germline" "" "" "0" "" "" "g.47987315T>C" "" "likely pathogenic" "" "0000047572" "0" "99" "12" "48371858" "48371858" "dup" "0" "00818" "COL2A1_000341" "g.48371858dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978075dup" "" "pathogenic" "" "0000047573" "0" "99" "12" "48380118" "48380118" "subst" "0" "00818" "COL2A1_000342" "g.48380118C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986335C>G" "" "pathogenic" "" "0000047574" "0" "99" "12" "48380118" "48380118" "subst" "0" "00818" "COL2A1_000342" "g.48380118C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47986335C>G" "" "pathogenic" "" "0000047575" "0" "99" "12" "48369273" "48369273" "subst" "0" "00818" "COL2A1_000343" "g.48369273T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975490T>C" "" "pathogenic" "" "0000047576" "0" "99" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000344" "g.48367305A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47973522A>T" "" "pathogenic" "" "0000047577" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047578" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047579" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047580" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047581" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047582" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047583" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047584" "0" "90" "12" "48383038" "48383038" "del" "0" "00818" "COL2A1_000348" "g.48383038del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47989255del" "" "pathogenic" "" "0000047585" "0" "90" "12" "48380638" "48380639" "dup" "0" "00818" "COL2A1_000354" "g.48380638_48380639dup" "" "" "" "1399_1400dupCA" "" "Unknown" "" "" "0" "" "" "g.47986855_47986856dup" "" "pathogenic" "" "0000047586" "0" "90" "12" "48386666" "48386666" "subst" "8.12381E-6" "00818" "COL2A1_000345" "g.48386666C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47992883C>T" "" "pathogenic" "" "0000047589" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047590" "0" "90" "12" "48380926" "48380926" "subst" "0.000556336" "00818" "COL2A1_000351" "g.48380926G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987143G>A" "" "pathogenic" "" "0000047591" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047592" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047593" "0" "90" "12" "48378839" "48378839" "subst" "0" "00818" "COL2A1_000364" "g.48378839C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985056C>T" "" "pathogenic" "" "0000047594" "0" "90" "12" "48371883" "48371883" "dup" "0" "00818" "COL2A1_000381" "g.48371883dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978100dup" "" "pathogenic" "" "0000047595" "0" "90" "12" "48374724" "48374724" "subst" "0" "00818" "COL2A1_000275" "g.48374724C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980941C>T" "" "pathogenic" "" "0000047596" "0" "90" "12" "48387272" "48387272" "del" "0" "00818" "COL2A1_000400" "g.48387272del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47993489del" "" "pathogenic" "" "0000047597" "0" "90" "12" "48372421" "48372421" "del" "0" "00818" "COL2A1_000380" "g.48372421del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978638del" "" "pathogenic" "" "0000047598" "0" "90" "12" "48381059" "48381059" "subst" "0" "00818" "COL2A1_000350" "g.48381059C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987276C>T" "" "pathogenic" "" "0000047599" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047600" "0" "90" "12" "48373317" "48373317" "subst" "0" "00818" "COL2A1_000043" "g.48373317G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000047601" "0" "90" "12" "48371161" "48372536" "del" "0" "00818" "COL2A1_000378" "g.48371161_48372536del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977378_47978753del" "" "pathogenic" "" "0000047602" "0" "90" "12" "48379739" "48379739" "subst" "0" "00818" "COL2A1_000062" "g.48379739C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985956C>T" "" "pathogenic" "" "0000047603" "0" "90" "12" "48374750" "48374750" "subst" "0" "00818" "COL2A1_000376" "g.48374750C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980967C>T" "" "pathogenic" "" "0000047604" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000047605" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000047606" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000047607" "0" "90" "12" "48371191" "48371191" "subst" "0" "00818" "COL2A1_000158" "g.48371191C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977408C>G" "" "pathogenic" "" "0000047608" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000047609" "0" "90" "12" "48368101" "48368101" "del" "0" "00818" "COL2A1_000389" "g.48368101del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47974318del" "" "pathogenic" "" "0000047610" "0" "90" "12" "48368101" "48368101" "del" "0" "00818" "COL2A1_000389" "g.48368101del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47974318del" "" "pathogenic" "" "0000047611" "0" "90" "12" "48368101" "48368101" "del" "0" "00818" "COL2A1_000389" "g.48368101del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47974318del" "" "pathogenic" "" "0000047612" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047613" "0" "90" "12" "48378803" "48378803" "subst" "0" "00818" "COL2A1_000366" "g.48378803C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985020C>A" "" "pathogenic" "" "0000047614" "0" "90" "12" "48378803" "48378803" "subst" "0" "00818" "COL2A1_000366" "g.48378803C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985020C>A" "" "pathogenic" "" "0000047615" "0" "90" "12" "48389545" "48389545" "subst" "0" "00818" "COL2A1_000395" "g.48389545C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995762C>T" "" "pathogenic" "" "0000047616" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000047617" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047618" "0" "90" "12" "48379750" "48379750" "subst" "0" "00818" "COL2A1_000357" "g.48379750T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985967T>C" "" "pathogenic" "" "0000047619" "0" "90" "12" "48370611" "48370611" "subst" "0" "00818" "COL2A1_000384" "g.48370611C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47976828C>T" "" "pathogenic" "" "0000047620" "0" "90" "12" "48370929" "48370929" "subst" "0" "00818" "COL2A1_000012" "g.48370929C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977146C>T" "" "pathogenic" "" "0000047621" "0" "90" "12" "48376311" "48376311" "subst" "0" "00818" "COL2A1_000372" "g.48376311C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982528C>T" "" "pathogenic" "" "0000047622" "0" "90" "12" "48376311" "48376311" "subst" "0" "00818" "COL2A1_000371" "g.48376311C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982528C>T" "" "pathogenic" "" "0000047623" "0" "90" "12" "48383578" "48383578" "subst" "0" "00818" "COL2A1_000269" "g.48383578C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47989795C>T" "" "pathogenic" "" "0000047624" "0" "90" "12" "48393773" "48393773" "del" "0" "00818" "COL2A1_000370" "g.48393773del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47999990del" "" "pathogenic" "" "0000047625" "0" "90" "12" "48367891" "48367891" "del" "0" "00818" "COL2A1_000392" "g.48367891del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47974108del" "" "pathogenic" "" "0000047626" "0" "90" "12" "48367891" "48367891" "del" "0" "00818" "COL2A1_000392" "g.48367891del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47974108del" "" "pathogenic" "" "0000047627" "0" "90" "12" "48379563" "48379563" "subst" "0" "00818" "COL2A1_000359" "g.48379563C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985780C>T" "" "pathogenic" "" "0000047628" "0" "90" "12" "48374751" "48374751" "subst" "0" "00818" "COL2A1_000375" "g.48374751C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980968C>A" "" "pathogenic" "" "0000047629" "0" "90" "12" "48376911" "48376911" "subst" "0" "00818" "COL2A1_000369" "g.48376911C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983128C>T" "" "pathogenic" "" "0000047630" "0" "90" "12" "48370331" "48370331" "subst" "0" "00818" "COL2A1_000276" "g.48370331C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47976548C>T" "" "pathogenic" "" "0000047631" "0" "90" "12" "48367327" "48367327" "subst" "0.00096406" "00818" "COL2A1_000393" "g.48367327C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47973544C>T" "" "pathogenic" "" "0000047632" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047633" "0" "90" "12" "48379358" "48379358" "subst" "0" "00818" "COL2A1_000079" "g.48379358G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000047634" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047635" "0" "90" "12" "48375614" "48375614" "subst" "0" "00818" "COL2A1_000374" "g.48375614T>C" "" "" "mbarat-houari" "" "" "Unknown" "" "" "0" "" "" "g.47981831T>C" "" "pathogenic" "" "0000047636" "0" "90" "12" "48370940" "48370940" "subst" "0" "00818" "COL2A1_000383" "g.48370940T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977157T>C" "" "pathogenic" "" "0000047637" "0" "90" "12" "48380171" "48380171" "subst" "0" "00818" "COL2A1_000189" "g.48380171C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986388C>T" "" "pathogenic" "" "0000047638" "0" "90" "12" "48378832" "48378832" "dup" "0" "00818" "COL2A1_000365" "g.48378832dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985049dup" "" "pathogenic" "" "0000047639" "0" "90" "12" "48379733" "48379733" "subst" "0" "00818" "COL2A1_000358" "g.48379733G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985950G>A" "" "pathogenic" "" "0000047640" "0" "90" "12" "48389093" "48389093" "subst" "0" "00818" "COL2A1_000270" "g.48389093T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995310T>C" "" "pathogenic" "" "0000047641" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047642" "0" "90" "12" "48369769" "48369769" "subst" "0" "00818" "COL2A1_000181" "g.48369769G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975986G>A" "" "pathogenic" "" "0000047643" "0" "90" "12" "48370938" "48370938" "subst" "0" "00818" "COL2A1_000256" "g.48370938C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977155C>T" "" "pathogenic" "" "0000047644" "0" "90" "12" "48372540" "48372540" "subst" "0" "00818" "COL2A1_000377" "g.48372540C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978757C>T" "" "pathogenic" "" "0000047645" "0" "90" "12" "48371410" "48371410" "del" "0" "00818" "COL2A1_000030" "g.48371410del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47977627del" "" "pathogenic" "" "0000047646" "0" "90" "12" "48391673" "48391673" "subst" "7.72785E-5" "00818" "COL2A1_000391" "g.48391673C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47997890C>T" "" "pathogenic" "" "0000047647" "0" "90" "12" "48367249" "48367249" "subst" "0" "00818" "COL2A1_000259" "g.48367249C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47973466C>A" "" "pathogenic" "" "0000047648" "0" "90" "12" "48372456" "48372456" "subst" "0.000249375" "00818" "COL2A1_000257" "g.48372456C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978673C>T" "" "pathogenic" "" "0000047649" "0" "90" "12" "48380860" "48380860" "subst" "0" "00818" "COL2A1_000271" "g.48380860C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987077C>G" "" "pathogenic" "" "0000047650" "0" "90" "12" "48380673" "48380673" "subst" "0" "00818" "COL2A1_000268" "g.48380673T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986890T>A" "" "pathogenic" "" "0000047651" "0" "90" "12" "48371894" "48371894" "del" "0" "00818" "COL2A1_000311" "g.48371894del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978111del" "" "pathogenic" "" "0000047652" "0" "90" "12" "48379517" "48379517" "del" "0" "00818" "COL2A1_000361" "g.48379517del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985734del" "" "pathogenic" "" "0000047653" "0" "90" "12" "48379517" "48379517" "del" "0" "00818" "COL2A1_000361" "g.48379517del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47985734del" "" "pathogenic" "" "0000047654" "0" "90" "12" "48379370" "48379370" "subst" "0" "00818" "COL2A1_000363" "g.48379370C>T" "" "{PMID:Barat-Houari:26626311}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985587C>T" "" "pathogenic" "" "0000047655" "0" "90" "12" "48376911" "48376911" "subst" "0" "00818" "COL2A1_000272" "g.48376911C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983128C>G" "" "pathogenic" "" "0000047656" "0" "90" "12" "48376911" "48376911" "subst" "0" "00818" "COL2A1_000369" "g.48376911C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983128C>T" "" "pathogenic" "" "0000047657" "0" "90" "12" "48376911" "48376911" "subst" "0" "00818" "COL2A1_000369" "g.48376911C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47983128C>T" "" "pathogenic" "" "0000047658" "0" "90" "12" "48380180" "48380180" "subst" "0" "00818" "COL2A1_000120" "g.48380180C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986397C>T" "" "pathogenic" "" "0000047659" "0" "90" "12" "48377230" "48377230" "subst" "0" "00818" "COL2A1_000367" "g.48377230C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983447C>T" "" "pathogenic" "" "0000047660" "0" "90" "12" "48367189" "48398104" "del" "0" "00818" "COL2A1_000327" "g.(?_48398104)_(48367189_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000047661" "0" "90" "12" "48381419" "48381419" "subst" "0" "00818" "COL2A1_000349" "g.48381419C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987636C>A" "" "pathogenic" "" "0000047662" "0" "90" "12" "48391685" "48391685" "subst" "0.00011791" "00818" "COL2A1_000388" "g.48391685G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47997902G>T" "" "pathogenic" "" "0000047663" "0" "90" "12" "48386108" "48396662" "del" "0" "00818" "COL2A1_000397" "g.48386108_48396662del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47992325_48002879del" "" "pathogenic" "" "0000047664" "0" "90" "12" "48380664" "48380664" "subst" "0" "00818" "COL2A1_000353" "g.48380664G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986881G>A" "" "pathogenic" "" "0000047665" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047666" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00818" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000047667" "0" "90" "12" "48375886" "48375886" "subst" "0" "00818" "COL2A1_000373" "g.48375886T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982103T>G" "" "pathogenic" "" "0000047668" "0" "90" "12" "48375886" "48375886" "subst" "0" "00818" "COL2A1_000373" "g.48375886T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982103T>G" "" "pathogenic" "" "0000047669" "0" "90" "12" "48375886" "48375886" "subst" "0" "00818" "COL2A1_000373" "g.48375886T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982103T>G" "" "pathogenic" "" "0000047670" "0" "90" "12" "48375886" "48375886" "subst" "0" "00818" "COL2A1_000373" "g.48375886T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982103T>G" "" "pathogenic" "" "0000047671" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000047672" "0" "90" "12" "48380162" "48380162" "subst" "0" "00818" "COL2A1_000356" "g.48380162C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47986379C>T" "" "pathogenic" "" "0000047673" "0" "90" "12" "48369754" "48369754" "subst" "0" "00818" "COL2A1_000006" "g.48369754C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047674" "0" "90" "12" "48373798" "48373798" "dup" "0" "00818" "COL2A1_000201" "g.48373798dup" "" "" "" "2673dupC" "" "Unknown" "" "" "0" "" "" "g.47980015dup" "" "pathogenic" "" "0000047675" "0" "90" "12" "48370647" "48370647" "subst" "0" "00818" "COL2A1_000164" "g.48370647C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47976864C>A" "" "pathogenic" "" "0000047676" "0" "90" "12" "48380877" "48380877" "subst" "0" "00818" "COL2A1_000352" "g.48380877C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47987094C>T" "" "pathogenic" "" "0000047677" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047678" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047679" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047680" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047681" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000047682" "0" "90" "12" "48376629" "48376629" "subst" "0" "00818" "COL2A1_000273" "g.48376629A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47982846A>G" "" "pathogenic" "" "0000047683" "0" "90" "12" "48369207" "48369208" "del" "0" "00818" "COL2A1_000386" "g.48369207_48369208del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975424_47975425del" "" "pathogenic" "" "0000047684" "0" "90" "12" "48369207" "48369208" "del" "0" "00818" "COL2A1_000386" "g.48369207_48369208del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975424_47975425del" "" "pathogenic" "" "0000047685" "0" "70" "12" "48389709" "48389709" "subst" "0.00828615" "00818" "COL2A1_000394" "g.48389709C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47995926C>T" "" "likely pathogenic" "" "0000047686" "0" "90" "12" "48391674" "48391674" "subst" "2.03386E-5" "00818" "COL2A1_000390" "g.48391674G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47997891G>A" "" "pathogenic" "" "0000047687" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000047688" "0" "90" "12" "48369754" "48369754" "subst" "0" "00818" "COL2A1_000006" "g.48369754C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047689" "1" "90" "12" "48378877" "48378877" "subst" "0" "00006" "COL2A1_000047" "g.48378877C>T" "" "{PMID:Zechi-Ceide 2008:18276201}" "" "ex26 1734-1G>A" "" "Unknown" "" "" "0" "" "" "g.47985094C>T" "" "pathogenic" "" "0000047690" "1" "90" "12" "48381062" "48381068" "delins" "0" "00006" "COL2A1_000132" "g.48381062_48381068delinsCACACACAACACTCACA" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47987279_47987285delinsCACACACAACACTCACA" "" "pathogenic" "" "0000047691" "1" "90" "12" "48391407" "48391407" "del" "0" "00006" "COL2A1_000135" "g.48391407del" "" "{PMID:Nishimura 2005:15895462}" "" "510delT" "" "Unknown" "" "" "0" "" "" "g.47997624del" "" "pathogenic" "" "0000047692" "1" "90" "12" "48387611" "48387611" "subst" "0" "00006" "COL2A1_000399" "g.48387611G>A" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000047693" "1" "90" "12" "48387611" "48387611" "subst" "0" "00006" "COL2A1_000399" "g.48387611G>A" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000047694" "1" "90" "12" "48389687" "48389687" "subst" "0" "00006" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000047695" "1" "90" "12" "48375892" "48375892" "subst" "0" "00006" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000047696" "1" "90" "12" "48372460" "48372484" "del" "0" "00006" "COL2A1_000379" "g.48372460_48372484del" "" "{PMID:Annunen 1999:10486316}" "" "ex40 25715-25739del25" "" "Unknown" "" "" "0" "" "" "g.47978677_47978701del" "" "pathogenic" "" "0000047697" "1" "90" "12" "48372112" "48372112" "subst" "0" "00006" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000047698" "1" "90" "12" "48380136" "48380136" "subst" "0" "00006" "COL2A1_000121" "g.48380136C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000047699" "1" "90" "12" "48371111" "48371113" "del" "0" "00006" "COL2A1_000382" "g.48371111_48371113del" "" "{PMID:Nishimura 2005:15895462}" "" "3265_3267delGAG AQ1089_1090E" "" "Unknown" "" "" "0" "" "" "g.47977328_47977330del" "" "pathogenic" "" "0000047700" "1" "90" "12" "48369754" "48369754" "subst" "0" "00006" "COL2A1_000006" "g.48369754C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047701" "1" "90" "12" "48369754" "48369754" "subst" "0" "00006" "COL2A1_000006" "g.48369754C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047702" "1" "90" "12" "48369754" "48369754" "subst" "0" "00006" "COL2A1_000006" "g.48369754C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000047703" "1" "90" "12" "48367320" "48367320" "del" "0" "00006" "COL2A1_000099" "g.48367320del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47973537del" "" "pathogenic" "" "0000047704" "1" "90" "12" "48378830" "48378830" "subst" "0" "00006" "COL2A1_000167" "g.48378830C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985047C>T" "" "pathogenic" "" "0000047705" "1" "90" "12" "48378830" "48378830" "subst" "0" "00006" "COL2A1_000167" "g.48378830C>T" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985047C>T" "" "pathogenic" "" "0000047706" "1" "90" "12" "48374751" "48374751" "subst" "0" "00006" "COL2A1_000126" "g.48374751C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980968C>T" "" "pathogenic" "" "0000047707" "1" "90" "12" "48368640" "48368640" "subst" "0" "00006" "COL2A1_000129" "g.48368640A>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974857A>T" "" "pathogenic" "" "0000047708" "1" "90" "12" "48387611" "48387611" "subst" "0" "00006" "COL2A1_000024" "g.48387611G>A" "" "{PMID:Bogaert 1994:07977371}" "" "ex 14 GCG>GTG" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000047709" "1" "90" "12" "48386659" "48386659" "subst" "0" "00006" "COL2A1_000346" "g.48386659A>C" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47992876A>C" "" "pathogenic" "" "0000047710" "1" "90" "12" "48376921" "48376921" "subst" "0" "00006" "COL2A1_000368" "g.48376921C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983138C>G" "" "pathogenic" "" "0000047711" "1" "90" "12" "48377521" "48377521" "subst" "0" "00006" "COL2A1_000339" "g.48377521T>C" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983738T>C" "" "pathogenic" "" "0000047712" "21" "11" "12" "48367976" "48367976" "subst" "0.163871" "00006" "COL2A1_000001" "g.48367976C>T" "" "{PMID:Vissing 1989:02572591}" "" "G171S" "" "Unknown" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000047713" "20" "11" "12" "48367976" "48367976" "subst" "0.163871" "00006" "COL2A1_000001" "g.48367976C>T" "" "{PMID:Vissing 1989:02572591}" "" "G171S" "" "Unknown" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000062484" "1" "10" "12" "48367186" "48367186" "subst" "0.00947327" "01164" "COL2A1_000463" "g.48367186G>A" "" "" "" "" "" "Germline" "" "rs41272773" "0" "" "" "g.47973403G>A" "" "benign" "" "0000062485" "1" "10" "12" "48373723" "48373723" "dup" "0" "01164" "COL2A1_000436" "g.48373723dup" "" "" "" "" "" "Germline" "" "rs34837498" "0" "" "" "g.47979940dup" "" "benign" "" "0000062486" "1" "10" "12" "48380682" "48380682" "subst" "0.196728" "01164" "COL2A1_000438" "g.48380682G>A" "" "" "" "" "" "Germline" "" "rs10875714" "0" "" "" "g.47986899G>A" "" "benign" "" "0000062487" "1" "10" "12" "48379810" "48379810" "subst" "0" "01164" "COL2A1_000426" "g.48379810G>A" "" "" "" "" "" "Germline" "" "rs3829734" "0" "" "" "g.47986027G>A" "" "benign" "" "0000062488" "1" "10" "12" "48391416" "48391416" "subst" "0.205195" "01164" "COL2A1_000461" "g.48391416G>T" "" "" "" "" "" "Germline" "" "rs3737548" "0" "" "" "g.47997633G>T" "" "benign" "" "0000062489" "1" "10" "12" "48375568" "48375568" "subst" "0.44083" "01164" "COL2A1_000408" "g.48375568A>G" "" "" "" "" "" "Germline" "" "rs1635553" "0" "" "" "g.47981785A>G" "" "benign" "" "0000062490" "1" "50" "12" "48388996" "48388996" "del" "0.205045" "01164" "COL2A1_000445" "g.48388996del" "" "" "" "" "" "Germline" "" "rs3216168" "0" "" "" "g.47995213del" "" "VUS" "" "0000062491" "1" "10" "12" "48389643" "48389643" "subst" "0.738197" "01164" "COL2A1_000448" "g.48389643A>C" "" "" "" "" "" "Germline" "" "rs1034762" "0" "" "" "g.47995860A>C" "" "benign" "" "0000062492" "1" "10" "12" "48379471" "48379471" "subst" "0" "01164" "COL2A1_000424" "g.48379471A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47985688A>G" "" "benign" "" "0000062493" "1" "10" "12" "48375965" "48375965" "subst" "0.371751" "01164" "COL2A1_000409" "g.48375965C>T" "" "" "" "" "" "Germline" "" "rs2276457" "0" "" "" "g.47982182C>T" "" "benign" "" "0000062494" "1" "10" "12" "48398080" "48398080" "subst" "0.74115" "01164" "COL2A1_000401" "g.48398080T>A" "" "" "" "" "" "Germline" "" "rs3803183" "0" "" "" "g.48004297T>A" "" "benign" "" "0000062495" "1" "90" "12" "48390398" "48390398" "subst" "0" "01164" "COL2A1_000459" "g.48390398G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47996615G>A" "" "pathogenic" "" "0000062496" "1" "10" "12" "48378380" "48378380" "subst" "0.0479963" "01164" "COL2A1_000421" "g.48378380A>G" "" "" "" "" "" "Germline" "" "rs41317939" "0" "" "" "g.47984597A>G" "" "benign" "" "0000062497" "1" "10" "12" "48389023" "48389023" "subst" "0.292812" "01164" "COL2A1_000446" "g.48389023C>T" "" "" "" "" "" "Germline" "" "rs10875716" "0" "" "" "g.47995240C>T" "" "benign" "" "0000062498" "1" "10" "12" "48379856" "48379856" "subst" "0" "01164" "COL2A1_000437" "g.48379856T>C" "" "" "" "" "LCP only" "Germline" "" "rs63118460" "0" "" "" "g.47986073T>C" "" "benign" "" "0000062499" "1" "10" "12" "48377970" "48377970" "subst" "0.740595" "01164" "COL2A1_000419" "g.48377970A>G" "" "" "" "" "" "Germline" "" "rs1635550" "0" "" "" "g.47984187A>G" "" "benign" "" "0000062500" "1" "10" "12" "48376969" "48376969" "subst" "0.2804" "01164" "COL2A1_000414" "g.48376969C>A" "" "" "" "" "" "Germline" "" "rs11168338" "0" "" "" "g.47983186C>A" "" "benign" "" "0000062501" "1" "10" "12" "48375975" "48375975" "subst" "0.383372" "01164" "COL2A1_000410" "g.48375975A>G" "" "" "" "" "" "Germline" "" "rs2276456" "0" "" "" "g.47982192A>G" "" "benign" "" "0000062502" "1" "50" "12" "48376446" "48376446" "dup" "0" "01164" "COL2A1_000413" "g.48376446dup" "" "" "" "" "" "Germline" "" "rs3842680" "0" "" "" "g.47982663dup" "" "VUS" "" "0000062503" "1" "10" "12" "48376291" "48376291" "subst" "0.389361" "01164" "COL2A1_000411" "g.48376291G>A" "" "" "" "" "" "Germline" "" "rs2276454" "0" "" "" "g.47982508G>A" "" "benign" "" "0000062504" "1" "10" "12" "48398002" "48398002" "subst" "0.740861" "01164" "COL2A1_000402" "g.48398002G>C" "" "" "" "" "" "Germline" "" "rs3803184" "0" "" "" "g.48004219G>C" "" "benign" "" "0000066249" "0" "50" "12" "48393545" "48393545" "subst" "0" "01280" "COL2A1_000403" "g.48393545G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47999762G>T" "" "VUS" "" "0000066250" "0" "50" "12" "48367532" "48367532" "subst" "0" "01280" "COL2A1_000404" "g.48367532C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47973749C>T" "" "VUS" "" "0000066298" "0" "90" "12" "48389547" "48389547" "subst" "0" "00818" "COL2A1_000447" "g.48389547C>G" "" "{PMID:Ang 2007:17318849}" "" "" "" "Unknown" "" "" "0" "" "" "g.47995764C>G" "" "pathogenic" "" "0000066299" "0" "90" "12" "48367315" "48367315" "subst" "0" "00818" "COL2A1_000452" "g.48367315T>A" "" "{PMID:Bedeschi 2011:21356074}" "" "" "" "Unknown" "" "" "0" "" "" "g.47973532T>A" "" "pathogenic" "" "0000066300" "0" "90" "12" "48367315" "48367315" "subst" "0" "00818" "COL2A1_000452" "g.48367315T>A" "" "{PMID:Bedeschi 2011:21356074}" "" "" "" "Germline" "" "" "0" "" "" "g.47973532T>A" "" "pathogenic" "" "0000066301" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Bleasel 1995:7738948}" "" "" "" "Germline" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066302" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Bleasel 1996:8877930}" "" "" "" "Germline" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066303" "0" "90" "12" "48391838" "48391839" "ins" "0" "00818" "COL2A1_000462" "g.48391838_48391839insN[10]" "" "{PMID:Brown 1995:07711727}" "" "10 bp insertion after codon 48" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000066304" "0" "90" "12" "48369808" "48369808" "dup" "0" "00818" "COL2A1_000428" "g.48369808dup" "" "{PMID:Brown 1995:07711727}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976025dup" "" "pathogenic" "" "0000066305" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Carlson 2006:16755660}" "" "" "" "Germline" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066306" "0" "90" "12" "48387611" "48387611" "subst" "0" "00818" "COL2A1_000024" "g.48387611G>A" "" "{PMID:Chen 1996:8893763}" "" "" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000066307" "0" "90" "12" "48367197" "48367199" "del" "0" "00818" "COL2A1_000451" "g.48367197_48367199del" "" "{PMID:Desir 2012:22495950}" "" "" "" "Somatic" "" "" "0" "" "" "g.47973414_47973416del" "" "pathogenic" "" "0000066308" "0" "90" "12" "48367197" "48367199" "del" "0" "00818" "COL2A1_000451" "g.48367197_48367199del" "" "{PMID:Desir 2012:22495950}" "" "" "" "Unknown" "" "" "0" "" "" "g.47973414_47973416del" "" "pathogenic" "" "0000066309" "0" "90" "12" "48369808" "48369808" "subst" "0" "00818" "COL2A1_000429" "g.48369808C>T" "" "{PMID:Jackson 2012:21922596}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976025C>T" "" "pathogenic" "" "0000066310" "0" "90" "12" "48369816" "48369816" "subst" "0" "00818" "COL2A1_000335" "g.48369816C>A" "" "{PMID:Jackson 2012:21922596}" "" "" "" "Unknown" "" "" "0" "" "" "g.47976033C>A" "" "pathogenic" "" "0000066311" "0" "90" "12" "48379555" "48379555" "subst" "0" "00818" "COL2A1_000425" "g.48379555C>T" "" "{PMID:Kaissi 2013:24013370}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985772C>T" "" "pathogenic" "" "0000066312" "0" "90" "12" "48389701" "48389701" "subst" "0" "00818" "COL2A1_000450" "g.48389701C>G" "" "{PMID:Kannu 2010:20131279}" "" "" "" "Germline" "" "" "0" "" "" "g.47995918C>G" "" "pathogenic" "" "0000066313" "0" "90" "12" "48381438" "48381438" "subst" "0" "00818" "COL2A1_000119" "g.48381438C>T" "" "{PMID:Kannu 2010:20131279}" "" "" "" "Germline" "" "" "0" "" "" "g.47987655C>T" "" "pathogenic" "" "0000066314" "0" "90" "12" "48377203" "48377203" "subst" "0" "00818" "COL2A1_000415" "g.48377203C>A" "" "{PMID:Kannu 2011:21442341}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983420C>A" "" "pathogenic" "" "0000066315" "0" "90" "12" "48389674" "48389674" "subst" "0" "00818" "COL2A1_000449" "g.48389674C>T" "" "{PMID:Kannu 2011:21442341}" "" "" "" "Germline" "" "" "0" "" "" "g.47995891C>T" "" "pathogenic" "" "0000066316" "0" "90" "12" "48368041" "48368041" "subst" "0.000166507" "00818" "COL2A1_000455" "g.48368041G>A" "" "{PMID:Kannu 2011:21671384}" "" "" "" "Unknown" "" "" "0" "" "" "g.47974258G>A" "" "pathogenic" "" "0000066317" "0" "90" "12" "48378867" "48378867" "subst" "0" "00818" "COL2A1_000422" "g.48378867C>T" "" "{PMID:Kishiya 2014:25124518}" "" "" "" "Unknown" "" "" "0" "" "" "g.47985084C>T" "" "pathogenic" "" "0000066318" "0" "90" "12" "48371119" "48371119" "subst" "0" "00818" "COL2A1_000431" "g.48371119C>A" "" "{PMID:Li 2014:23932928}" "" "" "" "Germline" "" "" "0" "" "" "g.47977336C>A" "" "pathogenic" "" "0000066319" "0" "90" "12" "48377923" "48377923" "subst" "0" "00818" "COL2A1_000418" "g.48377923C>T" "" "{PMID:Li 2014:24949742}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.47984140C>T" "" "pathogenic" "" "0000066320" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "{PMID:Löppönen 2004:15593085}" "" "" "" "Germline" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066321" "0" "90" "12" "48372120" "48372120" "subst" "0" "00818" "COL2A1_000434" "g.48372120G>A" "" "{PMID:Mark 2011:21204228}" "" "" "" "Germline" "" "" "0" "" "" "g.47978337G>A" "" "pathogenic" "" "0000066322" "0" "90" "12" "48374380" "48374380" "subst" "0" "00818" "COL2A1_000407" "g.48374380C>A" "" "{PMID:Matsubayashi 2013:23653587}" "" "" "" "Germline" "" "" "0" "" "" "g.47980597C>A" "" "pathogenic" "" "0000066323" "0" "90" "12" "48377521" "48377521" "subst" "0" "00818" "COL2A1_000339" "g.48377521T>C" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47983738T>C" "" "pathogenic" "" "0000066324" "0" "90" "12" "48387611" "48387611" "subst" "0" "00818" "COL2A1_000024" "g.48387611G>A" "" "{PMID:Meredith 2007:17347327}" "" "A102V" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000066325" "0" "90" "12" "48387611" "48387611" "subst" "0" "00818" "COL2A1_000024" "g.48387611G>A" "" "{PMID:Meredith 2007:17347327}" "" "A102V" "" "Unknown" "" "" "0" "" "" "g.47993828G>A" "" "pathogenic" "" "0000066326" "0" "90" "12" "48386660" "48386660" "subst" "0" "00818" "COL2A1_000163" "g.48386660C>A" "" "{PMID:Meredith 2007:17347327}" "" "" "" "Unknown" "" "" "0" "" "" "g.47992877C>A" "" "pathogenic" "" "0000066327" "0" "90" "12" "48369835" "48369835" "subst" "0" "00818" "COL2A1_000138" "g.48369835C>T" "" "{PMID:Miyamoto 2007:17394019}" "" "" "not in 160 controls" "Germline" "" "" "0" "" "" "g.47976052C>T" "" "pathogenic" "" "0000066328" "0" "90" "12" "48370702" "48370702" "subst" "0" "00818" "COL2A1_000038" "g.48370702C>A" "" "{PMID:Mortier 2000:10745044}" "" "Gly910Cys" "" "Unknown" "" "" "0" "" "" "g.47976919C>A" "" "pathogenic" "" "0000066329" "0" "90" "12" "48370603" "48370603" "subst" "0" "00818" "COL2A1_000002" "g.48370603C>T" "" "{PMID:Mortier 2000:10745044}" "" "Gly943Ser" "" "Unknown" "" "" "0" "" "" "g.47976820C>T" "" "pathogenic" "" "0000066330" "0" "90" "12" "48376328" "48376328" "subst" "0" "00818" "COL2A1_000412" "g.48376328C>T" "" "{PMID:Nakane 2011:22570642}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982545C>T" "" "pathogenic" "" "0000066331" "0" "90" "12" "48372112" "48372112" "subst" "0" "00818" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000066332" "0" "90" "12" "48371111" "48371113" "del" "0" "00818" "COL2A1_000382" "g.48371111_48371113del" "" "{PMID:Nishimura 2005:15895462}" "" "c.3265_3267delGAG" "" "Germline" "" "" "0" "" "" "g.47977328_47977330del" "" "pathogenic" "" "0000066333" "0" "90" "12" "48389687" "48389687" "subst" "0" "00818" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic" "" "0000066334" "0" "90" "12" "48386659" "48386659" "subst" "0" "00818" "COL2A1_000346" "g.48386659A>C" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47992876A>C" "" "pathogenic" "" "0000066335" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000066336" "0" "90" "12" "48367320" "48367320" "del" "0" "00818" "COL2A1_000453" "g.48367320del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973537del" "" "pathogenic" "" "0000066337" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066338" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066339" "0" "90" "12" "48381438" "48381438" "subst" "0" "00818" "COL2A1_000119" "g.48381438C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47987655C>T" "" "pathogenic" "" "0000066340" "0" "90" "12" "48381438" "48381438" "subst" "0" "00818" "COL2A1_000119" "g.48381438C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47987655C>T" "" "pathogenic" "" "0000066341" "0" "90" "12" "48374751" "48374751" "subst" "0" "00818" "COL2A1_000126" "g.48374751C>T" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47980968C>T" "" "pathogenic" "" "0000066342" "0" "90" "12" "48391410" "48391410" "del" "0" "00818" "COL2A1_000460" "g.48391410del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47997627del" "" "pathogenic" "" "0000066343" "0" "90" "12" "48391410" "48391410" "del" "0" "00818" "COL2A1_000460" "g.48391410del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47997627del" "" "pathogenic" "" "0000066344" "0" "90" "12" "48381481" "48381481" "dup" "0" "00818" "COL2A1_000131" "g.48381481dup" "" "{PMID:Nishimura 2005:15895462}" "" "1137-1138insC" "" "Germline" "" "" "0" "" "" "g.47987698dup" "" "pathogenic" "" "0000066345" "0" "90" "12" "48376921" "48376921" "subst" "0" "00818" "COL2A1_000368" "g.48376921C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47983138C>G" "" "pathogenic" "" "0000066346" "0" "90" "12" "48376921" "48376921" "subst" "0" "00818" "COL2A1_000368" "g.48376921C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47983138C>G" "" "pathogenic" "" "0000066347" "0" "90" "12" "48376921" "48376921" "subst" "0" "00818" "COL2A1_000368" "g.48376921C>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47983138C>G" "" "pathogenic" "" "0000066348" "1" "90" "12" "48368647" "48368647" "subst" "0" "00818" "COL2A1_000387" "g.48368647T>C" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47974864T>C" "" "pathogenic" "" "0000066349" "1" "90" "12" "48368647" "48368647" "subst" "0" "00818" "COL2A1_000387" "g.48368647T>C" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47974864T>C" "" "pathogenic" "" "0000066350" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066351" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066352" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066353" "0" "90" "12" "48367305" "48367305" "subst" "0" "00818" "COL2A1_000130" "g.48367305A>G" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973522A>G" "" "pathogenic" "" "0000066354" "0" "90" "12" "48367192" "48367192" "del" "0" "00818" "COL2A1_000464" "g.48367192del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973409del" "" "pathogenic" "" "0000066355" "0" "90" "12" "48367192" "48367192" "del" "0" "00818" "COL2A1_000464" "g.48367192del" "" "{PMID:Nishimura 2005:15895462}" "" "" "" "Germline" "" "" "0" "" "" "g.47973409del" "" "pathogenic" "" "0000066356" "0" "90" "12" "48369798" "48369798" "subst" "0" "00818" "COL2A1_000427" "g.48369798C>T" "" "{PMID:Okamoto 2012:22711552}" "" "" "germinal mosaicism" "Germline" "" "" "0" "" "" "g.47976015C>T" "" "pathogenic" "" "0000066357" "0" "90" "12" "48369798" "48369798" "subst" "0" "00818" "COL2A1_000427" "g.48369798C>T" "" "{PMID:Okamoto 2012:22711552}" "" "" "germinal mosaicism" "Germline" "" "" "0" "" "" "g.47976015C>T" "" "pathogenic" "" "0000066358" "0" "90" "12" "48372073" "48372073" "subst" "0" "00818" "COL2A1_000433" "g.48372073C>A" "" "{PMID:Richards 2006:16752401}" "" "" "" "Unknown" "" "" "0" "" "" "g.47978290C>A" "" "pathogenic" "" "0000066359" "0" "90" "12" "48369744" "48369744" "subst" "0" "00818" "COL2A1_000457" "g.48369744A>G" "" "{PMID:Richards 2006:16752401}" "" "" "" "Unknown" "" "" "0" "" "" "g.47975961A>G" "" "pathogenic" "" "0000066360" "0" "90" "12" "48378328" "48378328" "subst" "0" "00818" "COL2A1_000420" "g.48378328C>T" "" "{PMID:Richards 2008:18309338}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984545C>T" "" "pathogenic" "" "0000066361" "0" "90" "12" "48377869" "48377869" "subst" "0" "00818" "COL2A1_000417" "g.48377869C>T" "" "{PMID:Richards 2008:18309338}" "" "" "" "Unknown" "" "" "0" "" "" "g.47984086C>T" "" "pathogenic" "" "0000066362" "0" "90" "12" "48373847" "48373847" "subst" "0" "00818" "COL2A1_000406" "g.48373847T>C" "" "{PMID:Richards 2008:18309338}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980064T>C" "" "pathogenic" "" "0000066363" "0" "90" "12" "48389701" "48389701" "subst" "0" "00818" "COL2A1_000458" "g.48389701C>A" "" "{PMID:Rukavina 2014:24681029}" "" "" "" "Germline" "" "" "0" "" "" "g.47995918C>A" "" "pathogenic" "" "0000066364" "0" "90" "12" "48371382" "48371382" "subst" "0" "00818" "COL2A1_000432" "g.48371382C>A" "" "{PMID:Segers 2012:22796116}" "" "" "" "Unknown" "" "" "0" "" "" "g.47977599C>A" "" "pathogenic" "" "0000066365" "0" "90" "12" "48379320" "48379320" "del" "0" "00818" "COL2A1_000423" "g.48379320del" "" "{PMID:Stevenson 2012:22522174}" "" "c.1525delT" "" "Somatic" "" "" "0" "" "" "g.47985537del" "" "pathogenic" "" "0000066366" "0" "90" "12" "48379320" "48379320" "del" "0" "00818" "COL2A1_000423" "g.48379320del" "" "{PMID:Stevenson 2012:22522174}" "" "c.1525delT" "" "Germline" "" "" "0" "" "" "g.47985537del" "" "pathogenic" "" "0000066367" "0" "90" "12" "48379320" "48379320" "del" "0" "00818" "COL2A1_000423" "g.48379320del" "" "{PMID:Stevenson 2012:22522174}" "" "c.1525delT" "" "Germline" "" "" "0" "" "" "g.47985537del" "" "pathogenic" "" "0000066368" "0" "90" "12" "48377504" "48377504" "subst" "0" "00818" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Suemori 2014:24164106}" "" "" "" "Germline" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000066369" "0" "90" "12" "48383590" "48383590" "subst" "0" "00818" "COL2A1_000442" "g.48383590T>G" "" "{PMID:Wada 2011:21250907}" "" "" "" "Unknown" "" "" "0" "" "" "g.47989807T>G" "" "pathogenic" "" "0000066370" "0" "90" "12" "48369322" "48369322" "subst" "8.33326E-6" "00818" "COL2A1_000456" "g.48369322C>T" "" "{PMID:Wang 2014:25050885}" "" "c.3665G>A" "not in 500 controls" "Unknown" "" "" "0" "" "" "g.47975539C>T" "" "pathogenic" "" "0000066371" "0" "90" "12" "48387590" "48387617" "del" "0" "00818" "COL2A1_000444" "g.48387590_48387617del" "" "{PMID:Wilkin 1999:10406661}" "" "Exon 12/intron 12 del" "" "Unknown" "" "" "0" "" "" "g.47993807_47993834del" "" "pathogenic" "" "0000066372" "0" "90" "12" "48383044" "48383064" "del" "0" "00818" "COL2A1_000440" "g.48383044_48383064del" "" "{PMID:Wilkin 1999:10406661}" "" "Intron 15/exon 16 del" "" "Unknown" "" "" "0" "" "" "g.47989261_47989281del" "" "pathogenic" "" "0000066373" "0" "90" "12" "48376669" "48376669" "subst" "0" "00818" "COL2A1_000007" "g.48376669G>A" "" "{PMID:Williams 1995:07757086}" "" "" "not in 24 controls" "Unknown" "" "" "0" "" "" "g.47982886G>A" "" "pathogenic" "" "0000066374" "0" "90" "12" "48379555" "48379555" "subst" "0" "00818" "COL2A1_000425" "g.48379555C>T" "" "{PMID:Xu 2014:24736929}" "" "" "" "Germline" "" "" "0" "" "" "g.47985772C>T" "" "pathogenic" "" "0000066375" "0" "90" "12" "48383066" "48383066" "subst" "0" "00818" "COL2A1_000441" "g.48383066T>C" "" "{PMID:Yaguchi 2011:21186996}" "" "base substitution at the A (-2) position of the 3\' splice acceptor site of intron 17" "" "Unknown" "" "" "0" "" "" "g.47989283T>C" "" "pathogenic" "" "0000066376" "0" "90" "12" "48367322" "48367322" "del" "0" "00818" "COL2A1_000454" "g.48367322del" "" "{PMID:Zhang 2013:23545312}" "" "" "" "Germline" "" "" "0" "" "" "g.47973539del" "" "pathogenic" "" "0000066377" "0" "90" "12" "48386666" "48386666" "subst" "8.12381E-6" "00818" "COL2A1_000345" "g.48386666C>T" "" "Barat-Houari et al, pers.comm." "" "" "VUS or incomplete penetrance" "Germline" "" "" "0" "" "" "g.47992883C>T" "" "pathogenic" "" "0000066378" "0" "90" "12" "48387272" "48387272" "del" "0" "00818" "COL2A1_000443" "g.48387272del" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47993489del" "" "pathogenic" "" "0000066379" "0" "90" "12" "48370702" "48370702" "subst" "0" "00818" "COL2A1_000430" "g.48370702C>T" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47976919C>T" "" "pathogenic" "" "0000066380" "0" "90" "12" "48372481" "48372481" "subst" "0" "00818" "COL2A1_000005" "g.48372481G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000066381" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066382" "0" "90" "12" "48387824" "48387824" "subst" "0" "00818" "COL2A1_000027" "g.48387824G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47994041G>A" "" "pathogenic" "" "0000066383" "0" "90" "12" "48373812" "48373812" "subst" "0" "00818" "COL2A1_000147" "g.48373812G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47980029G>A" "" "pathogenic" "" "0000066384" "0" "90" "12" "48379750" "48379750" "subst" "0" "00818" "COL2A1_000357" "g.48379750T>C" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47985967T>C" "" "pathogenic" "" "0000066385" "0" "90" "12" "48374751" "48374751" "subst" "0" "00818" "COL2A1_000375" "g.48374751C>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47980968C>A" "" "pathogenic" "" "0000066386" "0" "90" "12" "48380862" "48380862" "subst" "2.43657E-5" "00818" "COL2A1_000439" "g.48380862G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47987079G>A" "" "pathogenic" "" "0000066387" "0" "90" "12" "48375892" "48375892" "subst" "0" "00818" "COL2A1_000059" "g.48375892G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000066388" "0" "90" "12" "48370940" "48370940" "subst" "0" "00818" "COL2A1_000383" "g.48370940T>C" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47977157T>C" "" "pathogenic" "" "0000066389" "0" "90" "12" "48372127" "48372127" "subst" "0" "00818" "COL2A1_000435" "g.48372127C>G" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47978344C>G" "" "pathogenic" "" "0000066390" "0" "90" "12" "48377222" "48377222" "subst" "0" "00818" "COL2A1_000416" "g.48377222C>T" "" "Barat-Houari et al, pers.comm." "" "" "" "Unknown" "" "" "0" "" "" "g.47983439C>T" "" "pathogenic" "" "0000066391" "0" "90" "12" "48377222" "48377222" "subst" "0" "00818" "COL2A1_000416" "g.48377222C>T" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47983439C>T" "" "pathogenic" "" "0000066392" "0" "90" "12" "48391674" "48391674" "subst" "2.03386E-5" "00818" "COL2A1_000390" "g.48391674G>A" "" "Barat-Houari et al, pers.comm." "" "" "VUS or incomplete penetrance" "Unknown" "" "" "0" "" "" "g.47997891G>A" "" "pathogenic" "" "0000066393" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000066394" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000066395" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000066396" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000066397" "0" "90" "12" "48379543" "48379543" "subst" "0" "00818" "COL2A1_000360" "g.48379543G>A" "" "Barat-Houari et al, pers.comm." "" "" "" "Germline" "" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000066803" "0" "70" "12" "48389693" "48389693" "subst" "0" "01305" "COL2A1_000405" "g.48389693C>T" "" "{PMID:Jurgens 2015:26183434}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.47995910C>T" "" "likely pathogenic" "" "0000067065" "21" "70" "12" "48389693" "48389693" "subst" "0" "01305" "COL2A1_000405" "g.48389693C>T" "" "{PMID:Jurgens 2015:26183434}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47995910C>T" "" "likely pathogenic" "" "0000067066" "0" "70" "12" "48389693" "48389693" "subst" "0" "01305" "COL2A1_000405" "g.48389693C>T" "" "{PMID:Jurgens 2015:26183434}" "" "" "" "De novo" "" "" "0" "" "" "g.47995910C>T" "" "likely pathogenic" "" "0000079034" "1" "90" "12" "48372112" "48372112" "subst" "0" "01396" "COL2A1_000029" "g.48372112G>A" "" "{DOI:Silveira 2015:10.1002/ajmg.a.36954}, {PMID:Silveira 2015:25735649}" "" "R989C" "" "De novo" "" "rs121912874" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000080539" "0" "90" "12" "48372112" "48372112" "subst" "0" "01396" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Silveira et al. 2015:25735649} {DOI:Silveira et al. (2015): 10.1002/ajmg.a.36954}" "" "R989C" "de novo" "De novo" "" "rs121912874" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000080540" "0" "90" "12" "48372112" "48372112" "subst" "0" "01396" "COL2A1_000029" "g.48372112G>A" "" "{PMID:Silveira et al. 2015:25735649} {DOI:Silveira et al. (2015): 10.1002/ajmg.a.36954}," "" "R989C" "de novo in patient" "De novo" "yes" "rs121912874" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000080542" "0" "70" "12" "48378785" "48378785" "subst" "0" "01396" "COL2A1_000465" "g.48378785C>T" "" "" "" "g.19485G>A" "de novo in patient, not in 100 control chromosomes tested" "De novo" "" "" "0" "" "" "g.47985002C>T" "" "likely pathogenic" "" "0000091231" "1" "77" "12" "48380136" "48380136" "subst" "0" "01489" "COL2A1_000121" "g.48380136C>T" "" "{PMID:Kawano 2015:25900302}, {DOI:Kawano 2015:10.1002/ajmg.a.37073}" "" "" "" "De novo" "?" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000091270" "1" "77" "12" "48378381" "48378381" "subst" "0" "01489" "COL2A1_000466" "g.48378381C>G" "" "{PMID:Kawano 2015:25900302}, {DOI:Kawano 2015:10.1002/ajmg.a.37073}" "" "" "" "De novo" "?" "" "0" "" "" "g.47984598C>G" "" "VUS" "" "0000130009" "11" "70" "12" "48387284" "48387284" "subst" "0" "01758" "COL2A1_000467" "g.48387284C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.47993501C>A" "" "likely pathogenic" "ACMG" "0000169222" "0" "70" "12" "48389521" "48389521" "subst" "0" "00587" "COL2A1_000468" "g.48389521G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001844.4(COL2A1):c.680C>A p.(Pro227His)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.47995738G>T" "" "likely pathogenic" "" "0000179046" "0" "59" "12" "48380136" "48380136" "subst" "0" "01489" "COL2A1_000121" "g.48380136C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000179051" "0" "90" "12" "48379594" "48379594" "subst" "0" "01489" "COL2A1_000088" "g.48379594G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000179052" "0" "90" "12" "48379555" "48379555" "subst" "0" "01489" "COL2A1_000425" "g.48379555C>T" "" "" "" "" "variant also present in a sister" "Unknown" "yes" "" "0" "" "" "g.47985772C>T" "" "pathogenic" "" "0000179053" "0" "50" "12" "48379543" "48379543" "subst" "0" "01489" "COL2A1_000360" "g.48379543G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985760G>A" "" "pathogenic" "" "0000179054" "11" "90" "12" "48373308" "48373308" "dup" "0" "01489" "COL2A1_000203" "g.48373308dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47979525dup" "" "pathogenic" "" "0000179285" "0" "90" "12" "48372112" "48372112" "subst" "0" "01489" "COL2A1_000029" "g.48372112G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000179296" "21" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "01489" "COL2A1_000149" "g.48371798G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000179297" "0" "90" "12" "48371427" "48371427" "subst" "0" "01489" "COL2A1_000165" "g.48371427C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47977644C>T" "" "pathogenic" "" "0000179298" "0" "90" "12" "48369754" "48369754" "subst" "0" "01489" "COL2A1_000006" "g.48369754C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47975971C>T" "" "pathogenic" "" "0000179299" "0" "90" "12" "48387608" "48387608" "subst" "0" "01489" "COL2A1_000023" "g.48387608C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47993825C>T" "" "pathogenic" "" "0000179308" "0" "90" "12" "48378341" "48378349" "del" "0" "01489" "COL2A1_000469" "g.48378341_48378349del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47984558_47984566del" "" "likely pathogenic" "" "0000179309" "0" "70" "12" "48376356" "48376356" "subst" "0" "01489" "COL2A1_000470" "g.48376356C>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47982573C>G" "" "likely pathogenic" "" "0000179311" "0" "70" "12" "48375575" "48375586" "del" "0" "01489" "COL2A1_000471" "g.48375575_48375586del" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47981792_47981803del" "" "likely pathogenic" "" "0000179312" "0" "70" "12" "48372537" "48372539" "dup" "0" "01489" "COL2A1_000472" "g.48372537_48372539dup" "" "" "" "2737_2739dupAAC" "" "Unknown" "?" "" "0" "" "" "g.47978754_47978756dup" "" "likely pathogenic" "" "0000179313" "0" "70" "12" "48372469" "48372469" "subst" "4.09008E-6" "01489" "COL2A1_000473" "g.48372469C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47978686C>T" "" "likely pathogenic" "" "0000179314" "0" "70" "12" "48369855" "48369855" "subst" "0" "01489" "COL2A1_000474" "g.48369855T>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47976072T>A" "" "likely pathogenic" "" "0000179315" "0" "70" "12" "48387646" "48387646" "subst" "0" "01489" "COL2A1_000475" "g.48387646C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47993863C>G" "" "likely pathogenic" "" "0000185935" "21" "90" "12" "48368538" "48368538" "del" "0" "01489" "COL2A1_000476" "g.48368538del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47974755del" "" "pathogenic" "" "0000185936" "21" "90" "12" "48393773" "48393775" "delins" "0" "01489" "COL2A1_000477" "g.48393773_48393775delinsCC" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47999990_47999992delinsCC" "" "pathogenic" "" "0000185937" "0" "90" "12" "48379747" "48379747" "subst" "0" "01489" "COL2A1_000478" "g.48379747C>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47985964C>G" "" "pathogenic" "" "0000185938" "0" "90" "12" "48376911" "48376911" "subst" "0" "01489" "COL2A1_000272" "g.48376911C>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47983128C>G" "" "pathogenic" "" "0000188568" "0" "90" "12" "48372457" "48372457" "subst" "0" "01489" "COL2A1_000479" "g.48372457G>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47978674G>A" "" "pathogenic" "" "0000188569" "11" "90" "12" "48371792" "48371792" "subst" "0" "01489" "COL2A1_000480" "g.48371792C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978009C>T" "" "pathogenic" "" "0000193756" "0" "90" "12" "48375614" "48375614" "subst" "0" "01489" "COL2A1_000374" "g.48375614T>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47981831T>C" "" "pathogenic" "" "0000193757" "21" "90" "12" "48393830" "48393831" "del" "0" "01489" "COL2A1_000058" "g.48393830_48393831del" "" "{PMID:Richards 2000:10729292}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48000047_48000048del" "" "pathogenic" "" "0000193758" "0" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193759" "0" "50" "12" "48375567" "48375567" "subst" "0" "01489" "COL2A1_000336" "g.48375567C>T" "" "{PMID:Cao 2012:23079993}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47981784C>T" "" "VUS" "" "0000193760" "0" "90" "12" "48372451" "48372451" "del" "0" "01489" "COL2A1_000481" "g.48372451del" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.47978668del" "" "likely pathogenic" "" "0000193761" "21" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193762" "0" "70" "12" "48369790" "48369790" "subst" "0" "01489" "COL2A1_000482" "g.48369790C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47976007C>T" "" "likely pathogenic" "" "0000193763" "0" "90" "12" "48393773" "48393775" "delins" "0" "01489" "COL2A1_000477" "g.48393773_48393775delinsCC" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.47999990_47999992delinsCC" "" "pathogenic" "" "0000193764" "0" "90" "12" "48389529" "48389530" "ins" "0" "01489" "COL2A1_000483" "g.48389529_48389530insA" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47995746_47995747insA" "" "pathogenic" "" "0000193765" "0" "70" "12" "48380136" "48380136" "subst" "0" "01489" "COL2A1_000484" "g.48380136C>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47986353C>G" "" "likely pathogenic" "" "0000193766" "0" "90" "12" "48373798" "48373798" "dup" "0" "01489" "COL2A1_000201" "g.48373798dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47980015dup" "" "pathogenic" "" "0000193767" "0" "90" "12" "48375592" "48375592" "dup" "0" "01489" "COL2A1_000485" "g.48375592dup" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47981809dup" "" "pathogenic" "" "0000193768" "0" "90" "12" "48369272" "48369272" "subst" "0" "01489" "COL2A1_000244" "g.48369272G>T" "" "{PMID:Richards 2010:20513134}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47975489G>T" "" "pathogenic" "" "0000193769" "11" "90" "12" "48389514" "48389522" "del" "0" "01489" "COL2A1_000486" "g.48389514_48389522del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47995731_47995739del" "" "pathogenic" "" "0000193770" "11" "50" "12" "48371404" "48371404" "subst" "4.06474E-6" "01489" "COL2A1_000487" "g.48371404T>A" "" "" "" "" "an heterozygous pathogenic variant, c.508G>C, in SHOX gene was also identified" "Germline" "?" "" "0" "" "" "g.47977621T>A" "" "VUS" "" "0000193771" "0" "90" "12" "48380913" "48380913" "subst" "0" "01489" "COL2A1_000488" "g.48380913C>A" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47987130C>A" "" "pathogenic" "" "0000193772" "0" "70" "12" "48375161" "48375161" "subst" "0" "01489" "COL2A1_000489" "g.48375161C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47981378C>T" "" "likely pathogenic" "" "0000193773" "0" "90" "12" "48371427" "48371427" "subst" "0" "01489" "COL2A1_000165" "g.48371427C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47977644C>T" "" "pathogenic" "" "0000193775" "21" "90" "12" "48379555" "48379555" "subst" "0" "01489" "COL2A1_000425" "g.48379555C>T" "" "{PMID:Al Kaissi 2013:24013370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47985772C>T" "" "pathogenic" "" "0000193776" "0" "70" "12" "48368563" "48368563" "subst" "0" "01489" "COL2A1_000490" "g.48368563G>C" "" "{PMID:Kusano 2017:28265456}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47974780G>C" "" "likely pathogenic" "" "0000193777" "0" "70" "12" "48393879" "48393879" "subst" "0" "01489" "COL2A1_000491" "g.48393879G>A" "" "{PMID:Tompson 2017:28095098}" "" "" "" "Germline" "?" "" "0" "" "" "g.48000096G>A" "" "likely pathogenic" "" "0000193778" "0" "90" "12" "48373317" "48373317" "subst" "0" "01489" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Goyal 2016:28018693}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000193779" "0" "50" "12" "48371204" "48371204" "subst" "1.22419E-5" "01489" "COL2A1_000492" "g.48371204G>A" "" "{PMID:Gari 2016:27766954}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47977421G>A" "" "VUS" "" "0000193780" "11" "70" "12" "48368026" "48368030" "del" "0" "01489" "COL2A1_000493" "g.48368026_48368030del" "" "{PMID:Sangsin 2016:27955642}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47974243_47974247del" "" "likely pathogenic" "" "0000193792" "0" "90" "12" "48393757" "48393757" "del" "0" "01489" "COL2A1_000494" "g.48393757del" "" "{PMID:Yoshida S:16021188}" "" "" "" "Germline" "?" "" "0" "" "" "g.47999974del" "" "likely pathogenic" "" "0000193793" "21" "90" "12" "48391985" "48391985" "del" "0" "01489" "COL2A1_000495" "g.48391985del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47998202del" "" "pathogenic" "" "0000193794" "0" "70" "12" "48389033" "48389033" "subst" "0" "01489" "COL2A1_000496" "g.48389033C>T" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47995250C>T" "" "likely pathogenic" "" "0000193795" "0" "70" "12" "48355917" "48380156" "del" "0" "01489" "COL2A1_000497" "g.48355917_48380156del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47962134_47986373del" "" "likely pathogenic" "" "0000193797" "0" "70" "12" "48380124" "48380124" "subst" "0" "01489" "COL2A1_000498" "g.48380124C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47986341C>A" "" "likely pathogenic" "" "0000193798" "0" "70" "12" "48380115" "48380115" "subst" "0" "01489" "COL2A1_000499" "g.48380115T>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47986332T>A" "" "likely pathogenic" "" "0000193799" "0" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193800" "21" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193801" "21" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193802" "0" "70" "12" "48377498" "48377498" "subst" "0" "01489" "COL2A1_000500" "g.48377498C>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47983715C>A" "" "likely pathogenic" "" "0000193803" "0" "70" "12" "48377465" "48377465" "subst" "0" "01489" "COL2A1_000501" "g.48377465C>T" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47983682C>T" "" "likely pathogenic" "" "0000193804" "21" "70" "12" "48376892" "48376893" "del" "0" "01489" "COL2A1_000502" "g.48376892_48376893del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47983109_47983110del" "" "likely pathogenic" "" "0000193805" "0" "90" "12" "48375892" "48375892" "subst" "0" "01489" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47982109G>A" "" "pathogenic" "" "0000193806" "0" "70" "12" "48374426" "48374426" "del" "0" "01489" "COL2A1_000503" "g.48374426del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47980643del" "" "likely pathogenic" "" "0000193807" "0" "90" "12" "48372467" "48372467" "del" "0" "01489" "COL2A1_000504" "g.48372467del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47978684del" "" "pathogenic" "" "0000193808" "11" "90" "12" "48372457" "48372457" "subst" "0" "01489" "COL2A1_000479" "g.48372457G>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978674G>A" "" "pathogenic" "" "0000193809" "21" "90" "12" "48372421" "48372421" "del" "0" "01489" "COL2A1_000505" "g.48372421del" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978638del" "" "pathogenic" "" "0000193810" "21" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "01489" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000193811" "11" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "01489" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Kondo 2016:27408751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000193812" "0" "70" "12" "48387820" "48387820" "subst" "0" "01489" "COL2A1_000506" "g.48387820C>T" "" "{PMID: Sun W: 26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47994037C>T" "" "likely pathogenic" "" "0000193813" "0" "70" "12" "48380672" "48380672" "subst" "0" "01489" "COL2A1_000507" "g.48380672C>G" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47986889C>G" "" "likely pathogenic" "" "0000193814" "0" "90" "12" "48379594" "48379594" "subst" "0" "01489" "COL2A1_000088" "g.48379594G>A" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000193815" "0" "90" "12" "48379358" "48379358" "subst" "0" "01489" "COL2A1_000079" "g.48379358G>A" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000193816" "0" "70" "12" "48378832" "48378832" "dup" "0" "01489" "COL2A1_000508" "g.48378832dup" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985049dup" "" "likely pathogenic" "" "0000193818" "0" "70" "12" "48378374" "48378381" "dup" "0" "01489" "COL2A1_000509" "g.48378374_48378381dup" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47984591_47984598dup" "" "likely pathogenic" "" "0000193819" "0" "90" "12" "48378777" "48378777" "subst" "0" "01489" "COL2A1_000289" "g.48378777C>T" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000193820" "0" "90" "12" "48377504" "48377504" "subst" "0" "01489" "COL2A1_000089" "g.48377504G>A" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000193821" "0" "90" "12" "48372481" "48372481" "subst" "0" "01489" "COL2A1_000005" "g.48372481G>A" "" "{PMID: Sun 2015:26747767}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47978698G>A" "" "pathogenic" "" "0000193872" "0" "70" "12" "48398020" "48398020" "subst" "0" "01489" "COL2A1_000510" "g.48398020G>A" "" "{PMID:Wang 2016:27390512}" "" "" "" "De novo" "?" "" "0" "" "" "g.48004237G>A" "" "likely pathogenic" "" "0000193873" "11" "70" "12" "48370675" "48370675" "del" "0" "01489" "COL2A1_000511" "g.48370675del" "" "{PMID:Wang 2016:27390512}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47976892del" "" "pathogenic" "" "0000193874" "21" "70" "12" "48370630" "48370630" "del" "0" "01489" "COL2A1_000512" "g.48370630del" "" "{PMID:Wang 2016:27390512}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47976847del" "" "pathogenic" "" "0000193875" "0" "90" "12" "48379358" "48379358" "subst" "0" "01489" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Wang 2016:27390512}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000193879" "0" "90" "12" "48379358" "48379358" "subst" "0" "01489" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Wang 2016:27390512}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985575G>A" "" "pathogenic" "" "0000193880" "0" "90" "12" "48373317" "48373317" "subst" "0" "01489" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Wang 2016:27390512}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000193881" "0" "90" "12" "48380877" "48380877" "subst" "0" "01489" "COL2A1_000513" "g.48380877C>G" "" "{PMID:Nakashima 2016:27274858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47987094C>G" "" "pathogenic" "" "0000193882" "0" "70" "12" "48379581" "48379581" "subst" "0" "01489" "COL2A1_000514" "g.48379581C>T" "" "{PMID:Liu 2016:27059630}" "" "" "" "De novo" "?" "" "0" "" "" "g.47985798C>T" "" "likely pathogenic" "" "0000193883" "0" "90" "12" "48373302" "48373302" "subst" "0" "01489" "COL2A1_000515" "g.48373302C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47979519C>T" "" "pathogenic" "" "0000193884" "0" "70" "12" "48370339" "48370340" "inv" "0" "01489" "COL2A1_000516" "g.48370339_48370340inv" "" "{PMID:Liu 2016:27059630}" "" "" "" "De novo" "?" "" "0" "" "" "g.47976556_47976557inv" "" "likely pathogenic" "" "0000193888" "0" "70" "12" "48377193" "48377193" "subst" "0" "01489" "COL2A1_000517" "g.48377193C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.47983410C>T" "" "likely pathogenic" "" "0000193892" "0" "70" "12" "48368022" "48368022" "del" "0" "01489" "COL2A1_000518" "g.48368022del" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47974239del" "" "likely pathogenic" "" "0000193893" "11" "70" "12" "48371128" "48371128" "subst" "0" "01489" "COL2A1_000519" "g.48371128C>T" "" "{PMID: Zhang 2015:26377240}" "" "" "" "Germline" "?" "" "0" "" "" "g.47977345C>T" "" "likely pathogenic" "" "0000193894" "0" "70" "12" "48376693" "48376693" "subst" "0" "01489" "COL2A1_000520" "g.48376693C>G" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47982910C>G" "" "likely pathogenic" "" "0000193898" "0" "70" "12" "48379370" "48379370" "subst" "0" "01489" "COL2A1_000363" "g.48379370C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.47985587C>T" "" "likely pathogenic" "" "0000193934" "11" "70" "12" "48380135" "48380135" "subst" "0" "01489" "COL2A1_000521" "g.48380135C>G" "" "{PMID: Zhang 2015:26377240}" "" "" "" "Germline" "?" "" "0" "" "" "g.47986352C>G" "" "likely pathogenic" "" "0000193935" "0" "90" "12" "48371427" "48371427" "subst" "0" "01489" "COL2A1_000165" "g.48371427C>T" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47977644C>T" "" "pathogenic" "" "0000193936" "0" "90" "12" "48372112" "48372112" "subst" "0" "01489" "COL2A1_000029" "g.48372112G>A" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47978329G>A" "" "pathogenic" "" "0000193954" "0" "90" "12" "48380136" "48380136" "subst" "0" "01489" "COL2A1_000121" "g.48380136C>T" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000193955" "0" "90" "12" "48380887" "48380887" "subst" "0" "01489" "COL2A1_000025" "g.48380887C>T" "" "{PMID: Zhang 2015:26377240}" "" "" "" "De novo" "?" "" "0" "" "" "g.47987104C>T" "" "pathogenic" "" "0000222085" "0" "70" "12" "48386686" "48386686" "subst" "0" "01396" "COL2A1_000523" "g.48386686C>A" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PM2, PM1, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.47992903C>A" "" "likely pathogenic (dominant)" "" "0000222086" "0" "70" "12" "48371838" "48371855" "del" "0" "01396" "COL2A1_000522" "g.48371838_48371855del" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "not in 98 control chromosomes tested; ACMG PP4, PM2, PM4, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.47978055_47978072del" "" "likely pathogenic (dominant)" "ACMG" "0000222087" "0" "70" "12" "48379509" "48379509" "subst" "0" "01396" "COL2A1_000524" "g.48379509A>C" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "not in 114 control chromosomes tested; ACMG PP4, PVS1, PM2, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.47985726A>C" "" "pathogenic (dominant)" "ACMG" "0000247117" "0" "10" "12" "48369809" "48369809" "subst" "0.000300527" "02330" "COL2A1_000571" "g.48369809A>G" "" "" "" "COL2A1(NM_001844.4):c.3534T>C (p.N1178=), COL2A1(NM_001844.5):c.3534T>C (p.N1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47976026A>G" "" "benign" "" "0000247118" "0" "10" "12" "48376345" "48376345" "subst" "0" "02330" "COL2A1_000583" "g.48376345A>G" "" "" "" "COL2A1(NM_001844.5):c.2241T>C (p.G747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982562A>G" "" "benign" "" "0000247165" "0" "30" "12" "48369327" "48369327" "subst" "4.17387E-6" "02330" "COL2A1_000569" "g.48369327A>G" "" "" "" "COL2A1(NM_001844.5):c.3659T>C (p.M1220T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975544A>G" "" "likely benign" "" "0000248309" "0" "10" "12" "48375568" "48375568" "subst" "0.44083" "02325" "COL2A1_000408" "g.48375568A>G" "" "" "" "COL2A1(NM_001844.4):c.2400T>C (p.N800=), COL2A1(NM_001844.5):c.2400T>C (p.N800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47981785A>G" "" "benign" "" "0000248333" "0" "10" "12" "48389643" "48389643" "subst" "0.738197" "02325" "COL2A1_000448" "g.48389643A>C" "" "" "" "COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995860A>C" "" "benign" "" "0000249636" "0" "90" "12" "48375586" "48375586" "del" "0" "02325" "COL2A1_000579" "g.48375586del" "" "" "" "COL2A1(NM_001844.5):c.2382delT (p.G795Afs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47981803del" "" "pathogenic" "" "0000250044" "0" "10" "12" "48375568" "48375568" "subst" "0.44083" "02329" "COL2A1_000408" "g.48375568A>G" "" "" "" "COL2A1(NM_001844.4):c.2400T>C (p.N800=), COL2A1(NM_001844.5):c.2400T>C (p.N800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47981785A>G" "" "benign" "" "0000250068" "0" "10" "12" "48389643" "48389643" "subst" "0.738197" "02329" "COL2A1_000448" "g.48389643A>C" "" "" "" "COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995860A>C" "" "benign" "" "0000250118" "0" "10" "12" "48378380" "48378380" "subst" "0.0479963" "02329" "COL2A1_000421" "g.48378380A>G" "" "" "" "COL2A1(NM_001844.4):c.1836T>C (p.(Gly612=)), COL2A1(NM_001844.5):c.1836T>C (p.G612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47984597A>G" "" "benign" "" "0000254435" "0" "30" "12" "48380939" "48380939" "subst" "0.000511713" "01943" "COL2A1_000590" "g.48380939A>G" "" "" "" "COL2A1(NM_001844.4):c.1287T>C (p.G429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987156A>G" "" "likely benign" "" "0000264770" "0" "30" "12" "48398117" "48398117" "subst" "0" "02330" "COL2A1_000603" "g.48398117G>T" "" "" "" "COL2A1(NM_001844.5):c.-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004334G>T" "" "likely benign" "" "0000264771" "0" "30" "12" "48383056" "48383056" "subst" "0.000185728" "02330" "COL2A1_000595" "g.48383056G>A" "" "" "" "COL2A1(NM_001844.5):c.1077C>T (p.V359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47989273G>A" "" "likely benign" "" "0000264772" "0" "30" "12" "48381439" "48381439" "subst" "0.000374698" "02330" "COL2A1_000594" "g.48381439G>A" "" "" "" "COL2A1(NM_001844.5):c.1176C>T (p.R392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987656G>A" "" "likely benign" "" "0000264773" "0" "30" "12" "48381408" "48381408" "subst" "0" "02330" "COL2A1_000593" "g.48381408G>T" "" "" "" "COL2A1(NM_001844.5):c.1207C>A (p.P403T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987625G>T" "" "likely benign" "" "0000264774" "0" "10" "12" "48381394" "48381394" "subst" "0.00421689" "02330" "COL2A1_000592" "g.48381394G>A" "" "" "" "COL2A1(NM_001844.4):c.1221C>T (p.S407=, p.(Ser407=)), COL2A1(NM_001844.5):c.1221C>T (p.S407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987611G>A" "" "benign" "" "0000264775" "0" "30" "12" "48380193" "48380193" "subst" "0" "02330" "COL2A1_000589" "g.48380193C>A" "" "" "" "COL2A1(NM_001844.5):c.1453G>T (p.A485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986410C>A" "" "likely benign" "" "0000264776" "0" "10" "12" "48393847" "48393847" "subst" "0.000126034" "02330" "COL2A1_000655" "g.48393847C>T" "" "" "" "COL2A1(NM_001844.5):c.147G>A (p.P49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48000064C>T" "" "benign" "" "0000264777" "0" "50" "12" "48380141" "48380141" "subst" "0" "02330" "COL2A1_000588" "g.48380141G>A" "" "" "" "COL2A1(NM_001844.4):c.1505C>T (p.(Pro502Leu)), COL2A1(NM_001844.5):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986358G>A" "" "VUS" "" "0000264778" "0" "10" "12" "48377898" "48377898" "subst" "0.0023287" "02330" "COL2A1_000586" "g.48377898G>A" "" "" "" "COL2A1(NM_001844.4):c.1913C>T (p.T638I, p.(Thr638Ile)), COL2A1(NM_001844.5):c.1913C>T (p.T638I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47984115G>A" "" "benign" "" "0000264779" "0" "10" "12" "48376694" "48376694" "subst" "0.000456439" "02330" "COL2A1_000585" "g.48376694G>A" "" "" "" "COL2A1(NM_001844.5):c.2130C>T (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982911G>A" "" "benign" "" "0000264780" "0" "10" "12" "48376664" "48376664" "subst" "0.00152695" "02330" "COL2A1_000584" "g.48376664G>T" "" "" "" "COL2A1(NM_001844.5):c.2160C>A (p.G720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982881G>T" "" "benign" "" "0000264781" "0" "30" "12" "48375911" "48375911" "subst" "0.00278159" "02330" "COL2A1_000546" "g.48375911G>A" "" "" "" "COL2A1(NM_001844.4):c.2334C>T (p.A778=), COL2A1(NM_001844.5):c.2334C>T (p.A778=, p.(Ala778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982128G>A" "" "likely benign" "" "0000264782" "0" "50" "12" "48373836" "48373836" "subst" "0" "02330" "COL2A1_000578" "g.48373836C>T" "" "" "" "COL2A1(NM_001844.5):c.2635G>A (p.G879R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47980053C>T" "" "VUS" "" "0000264783" "0" "10" "12" "48372559" "48372559" "subst" "5.43247E-5" "02330" "COL2A1_000577" "g.48372559G>A" "" "" "" "COL2A1(NM_001844.5):c.2734-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978776G>A" "" "benign" "" "0000264784" "0" "10" "12" "48370882" "48370882" "subst" "0.000303473" "02330" "COL2A1_000573" "g.48370882C>T" "" "" "" "COL2A1(NM_001844.5):c.3327+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47977099C>T" "" "benign" "" "0000264785" "0" "10" "12" "48369862" "48369862" "subst" "0" "02330" "COL2A1_000572" "g.48369862G>T" "" "" "" "COL2A1(NM_001844.5):c.3490-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47976079G>T" "" "benign" "" "0000264786" "0" "10" "12" "48369730" "48369730" "del" "0" "02330" "COL2A1_000570" "g.48369730del" "" "" "" "COL2A1(NM_001844.5):c.3597+17delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975947del" "" "benign" "" "0000266933" "0" "10" "12" "48380682" "48380682" "subst" "0.196728" "02325" "COL2A1_000438" "g.48380682G>A" "" "" "" "COL2A1(NM_001844.5):c.1366-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986899G>A" "" "benign" "" "0000266934" "0" "90" "12" "48393802" "48393802" "subst" "0" "02325" "COL2A1_000175" "g.48393802G>T" "" "" "" "COL2A1(NM_001844.5):c.192C>A (p.C64*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48000019G>T" "" "pathogenic" "" "0000266935" "0" "10" "12" "48376291" "48376291" "subst" "0.389361" "02325" "COL2A1_000411" "g.48376291G>A" "" "" "" "COL2A1(NM_001844.4):c.2295C>T (p.G765=), COL2A1(NM_001844.5):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982508G>A" "" "benign" "" "0000266936" "0" "10" "12" "48398080" "48398080" "subst" "0.74115" "02325" "COL2A1_000401" "g.48398080T>A" "" "" "" "COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004297T>A" "" "benign" "" "0000266937" "0" "90" "12" "48372442" "48372442" "subst" "0" "02325" "COL2A1_000576" "g.48372442C>T" "" "" "" "COL2A1(NM_001844.5):c.2833G>A (p.G945S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978659C>T" "" "pathogenic" "" "0000266938" "0" "10" "12" "48367976" "48367976" "subst" "0.163871" "02325" "COL2A1_000001" "g.48367976C>T" "" "" "" "COL2A1(NM_001844.5):c.4213G>A (p.G1405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000266939" "0" "10" "12" "48391416" "48391416" "subst" "0.205195" "02325" "COL2A1_000461" "g.48391416G>T" "" "" "" "COL2A1(NM_001844.5):c.504C>A (p.G168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997633G>T" "" "benign" "" "0000266940" "0" "90" "12" "48389683" "48389683" "subst" "0" "02325" "COL2A1_000598" "g.48389683C>T" "" "" "" "COL2A1(NM_001844.5):c.629G>A (p.G210E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995900C>T" "" "pathogenic" "" "0000266941" "0" "10" "12" "48389023" "48389023" "subst" "0.292812" "02325" "COL2A1_000446" "g.48389023C>T" "" "" "" "COL2A1(NM_001844.4):c.762+15G>A, COL2A1(NM_001844.5):c.762+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995240C>T" "" "benign" "" "0000266942" "0" "10" "12" "48398002" "48398002" "subst" "0.740861" "02325" "COL2A1_000402" "g.48398002G>C" "" "" "" "COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004219G>C" "" "benign" "" "0000268322" "0" "10" "12" "48381045" "48381045" "subst" "0.0135776" "02329" "COL2A1_000591" "g.48381045C>T" "" "" "" "COL2A1(NM_001844.4):c.1266+7G>A (p.(=)), COL2A1(NM_001844.5):c.1266+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987262C>T" "" "benign" "" "0000268323" "0" "10" "12" "48380682" "48380682" "subst" "0.196728" "02329" "COL2A1_000438" "g.48380682G>A" "" "" "" "COL2A1(NM_001844.5):c.1366-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986899G>A" "" "benign" "" "0000268324" "0" "10" "12" "48379731" "48379731" "subst" "0.00943624" "02329" "COL2A1_000587" "g.48379731G>T" "" "" "" "COL2A1(NM_001844.4):c.1545C>A (p.(Arg515=)), COL2A1(NM_001844.5):c.1545C>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985948G>T" "" "benign" "" "0000268325" "0" "10" "12" "48376869" "48376869" "subst" "0.0456099" "02329" "COL2A1_000549" "g.48376869T>C" "" "" "" "COL2A1(NM_001844.4):c.2094+7A>G (p.(=)), COL2A1(NM_001844.5):c.2094+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47983086T>C" "" "benign" "" "0000268326" "0" "10" "12" "48393781" "48393781" "subst" "0.00624203" "02329" "COL2A1_000566" "g.48393781G>A" "" "" "" "COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=)), COL2A1(NM_001844.5):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47999998G>A" "" "benign" "" "0000268327" "0" "10" "12" "48376291" "48376291" "subst" "0.389361" "02329" "COL2A1_000411" "g.48376291G>A" "" "" "" "COL2A1(NM_001844.4):c.2295C>T (p.G765=), COL2A1(NM_001844.5):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982508G>A" "" "benign" "" "0000268328" "0" "10" "12" "48375911" "48375911" "subst" "0.00278159" "02329" "COL2A1_000546" "g.48375911G>A" "" "" "" "COL2A1(NM_001844.4):c.2334C>T (p.A778=), COL2A1(NM_001844.5):c.2334C>T (p.A778=, p.(Ala778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982128G>A" "" "benign" "" "0000268329" "0" "10" "12" "48398080" "48398080" "subst" "0.74115" "02329" "COL2A1_000401" "g.48398080T>A" "" "" "" "COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004297T>A" "" "benign" "" "0000268330" "0" "10" "12" "48373798" "48373798" "subst" "0.0205115" "02329" "COL2A1_000543" "g.48373798G>C" "" "" "" "COL2A1(NM_001844.4):c.2673C>G (p.(Gly891=)), COL2A1(NM_001844.5):c.2673C>G (p.G891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47980015G>C" "" "benign" "" "0000268331" "0" "90" "12" "48372413" "48372413" "subst" "0" "02329" "COL2A1_000300" "g.48372413G>A" "" "" "" "COL2A1(NM_001844.5):c.2862C>T (p.G954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000268332" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "02329" "COL2A1_000149" "g.48371798G>A" "" "" "" "COL2A1(NM_001844.5):c.3106C>T (p.R1036*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000268333" "0" "10" "12" "48368128" "48368128" "subst" "0.0537468" "02329" "COL2A1_000526" "g.48368128G>C" "" "" "" "COL2A1(NM_001844.5):c.4075-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974345G>C" "" "benign" "" "0000268334" "0" "10" "12" "48367976" "48367976" "subst" "0.163871" "02329" "COL2A1_000001" "g.48367976C>T" "" "" "" "COL2A1(NM_001844.5):c.4213G>A (p.G1405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000268335" "0" "10" "12" "48391657" "48391657" "subst" "0.0376268" "02329" "COL2A1_000600" "g.48391657T>A" "" "" "" "COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp)), COL2A1(NM_001844.5):c.426A>T (p.E142D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997874T>A" "" "benign" "" "0000268336" "0" "10" "12" "48391416" "48391416" "subst" "0.205195" "02329" "COL2A1_000461" "g.48391416G>T" "" "" "" "COL2A1(NM_001844.5):c.504C>A (p.G168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997633G>T" "" "benign" "" "0000268337" "0" "10" "12" "48389023" "48389023" "subst" "0.292812" "02329" "COL2A1_000446" "g.48389023C>T" "" "" "" "COL2A1(NM_001844.4):c.762+15G>A, COL2A1(NM_001844.5):c.762+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995240C>T" "" "benign" "" "0000268338" "0" "10" "12" "48398002" "48398002" "subst" "0.740861" "02329" "COL2A1_000402" "g.48398002G>C" "" "" "" "COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004219G>C" "" "benign" "" "0000273958" "0" "30" "12" "48381394" "48381394" "subst" "0.00421689" "01943" "COL2A1_000592" "g.48381394G>A" "" "" "" "COL2A1(NM_001844.4):c.1221C>T (p.S407=, p.(Ser407=)), COL2A1(NM_001844.5):c.1221C>T (p.S407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987611G>A" "" "likely benign" "" "0000273959" "0" "30" "12" "48381045" "48381045" "subst" "0.0135776" "01943" "COL2A1_000591" "g.48381045C>T" "" "" "" "COL2A1(NM_001844.4):c.1266+7G>A (p.(=)), COL2A1(NM_001844.5):c.1266+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987262C>T" "" "likely benign" "" "0000273960" "0" "10" "12" "48377898" "48377898" "subst" "0.0023287" "01943" "COL2A1_000586" "g.48377898G>A" "" "" "" "COL2A1(NM_001844.4):c.1913C>T (p.T638I, p.(Thr638Ile)), COL2A1(NM_001844.5):c.1913C>T (p.T638I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47984115G>A" "" "benign" "" "0000273961" "0" "30" "12" "48393781" "48393781" "subst" "0.00624203" "01943" "COL2A1_000566" "g.48393781G>A" "" "" "" "COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=)), COL2A1(NM_001844.5):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47999998G>A" "" "likely benign" "" "0000273962" "0" "30" "12" "48376306" "48376306" "subst" "2.05042E-5" "01943" "COL2A1_000582" "g.48376306G>A" "" "" "" "COL2A1(NM_001844.4):c.2280C>T (p.I760=), COL2A1(NM_001844.5):c.2280C>T (p.I760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982523G>A" "" "likely benign" "" "0000273963" "0" "30" "12" "48375946" "48375946" "subst" "2.0308E-5" "01943" "COL2A1_000581" "g.48375946G>A" "" "" "" "COL2A1(NM_001844.4):c.2302-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982163G>A" "" "likely benign" "" "0000273964" "0" "30" "12" "48375938" "48375938" "subst" "4.87333E-5" "01943" "COL2A1_000580" "g.48375938G>A" "" "" "" "COL2A1(NM_001844.4):c.2307C>T (p.D769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982155G>A" "" "likely benign" "" "0000273965" "0" "30" "12" "48375911" "48375911" "subst" "0.00278159" "01943" "COL2A1_000546" "g.48375911G>A" "" "" "" "COL2A1(NM_001844.4):c.2334C>T (p.A778=), COL2A1(NM_001844.5):c.2334C>T (p.A778=, p.(Ala778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982128G>A" "" "likely benign" "" "0000273966" "0" "30" "12" "48372131" "48372131" "subst" "5.69314E-5" "01943" "COL2A1_000575" "g.48372131G>A" "" "" "" "COL2A1(NM_001844.4):c.2946C>T (p.I982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978348G>A" "" "likely benign" "" "0000273967" "0" "50" "12" "48371798" "48371798" "subst" "3.2656E-5" "01943" "COL2A1_000574" "g.48371798G>C" "" "" "" "COL2A1(NM_001844.4):c.3106C>G (p.R1036G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978015G>C" "" "VUS" "" "0000273968" "0" "30" "12" "48369250" "48369250" "subst" "0.000646263" "01943" "COL2A1_000528" "g.48369250C>T" "" "" "" "COL2A1(NM_001844.4):c.3736G>A (p.G1246S, p.(Gly1246Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975467C>T" "" "likely benign" "" "0000273969" "0" "70" "12" "48391697" "48391697" "subst" "0" "01943" "COL2A1_000601" "g.48391697C>T" "" "" "" "COL2A1(NM_001844.4):c.386G>A (p.G129E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997914C>T" "" "likely pathogenic" "" "0000273970" "0" "50" "12" "48391673" "48391673" "subst" "7.72785E-5" "01943" "COL2A1_000391" "g.48391673C>T" "" "" "" "COL2A1(NM_001844.4):c.410G>A (p.R137H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997890C>T" "" "VUS" "" "0000273971" "0" "30" "12" "48389710" "48389710" "subst" "5.68671E-5" "01943" "COL2A1_000599" "g.48389710G>A" "" "" "" "COL2A1(NM_001844.4):c.610-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995927G>A" "" "likely benign" "" "0000273972" "0" "50" "12" "48398040" "48398040" "subst" "0" "01943" "COL2A1_000602" "g.48398040C>T" "" "" "" "COL2A1(NM_001844.4):c.65G>A (p.R22Q, p.(Arg22Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004257C>T" "" "VUS" "" "0000273973" "0" "50" "12" "48388220" "48388220" "subst" "0.00013817" "01943" "COL2A1_000597" "g.48388220G>A" "" "" "" "COL2A1(NM_001844.4):c.803C>T (p.P268L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47994437G>A" "" "VUS" "" "0000273974" "0" "30" "12" "48388219" "48388219" "subst" "8.1279E-6" "01943" "COL2A1_000596" "g.48388219C>T" "" "" "" "COL2A1(NM_001844.4):c.804G>A (p.P268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47994436C>T" "" "likely benign" "" "0000322769" "0" "50" "12" "48367327" "48367327" "subst" "0.00096406" "01804" "COL2A1_000393" "g.48367327C>T" "" "" "" "COL2A1(NM_001844.4):c.4327G>A (p.(Gly1443Ser)), COL2A1(NM_001844.5):c.4327G>A (p.G1443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47973544C>T" "" "VUS" "" "0000322770" "0" "50" "12" "48367329" "48367329" "subst" "4.08557E-6" "01804" "COL2A1_000525" "g.48367329G>A" "" "" "" "COL2A1(NM_001844.4):c.4325C>T (p.(Thr1442Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47973546G>A" "" "VUS" "" "0000322771" "0" "50" "12" "48369144" "48369144" "subst" "1.21885E-5" "01804" "COL2A1_000527" "g.48369144C>T" "" "" "" "COL2A1(NM_001844.4):c.3842G>A (p.(Arg1281His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975361C>T" "" "VUS" "" "0000322772" "0" "50" "12" "48369268" "48369268" "subst" "3.66387E-5" "01804" "COL2A1_000529" "g.48369268G>A" "" "" "" "COL2A1(NM_001844.4):c.3718C>T (p.(Arg1240Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975485G>A" "" "VUS" "" "0000322773" "0" "50" "12" "48370896" "48370896" "subst" "4.28574E-6" "01804" "COL2A1_000615" "g.48370896G>C" "" "" "" "COL2A1(NM_001844.4):c.3316C>G (p.(Arg1106Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47977113G>C" "" "VUS" "" "0000322774" "0" "50" "12" "48375889" "48375889" "subst" "0" "01804" "COL2A1_000330" "g.48375889C>T" "" "" "" "COL2A1(NM_001844.4):c.2355+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982106C>T" "" "VUS" "" "0000322776" "0" "50" "12" "48379730" "48379730" "subst" "0" "01804" "COL2A1_000635" "g.48379730C>T" "" "" "" "COL2A1(NM_001844.4):c.1546G>A (p.(Gly516Ser)), COL2A1(NM_001844.5):c.1546G>A (p.G516S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985947C>T" "" "VUS" "" "0000322777" "0" "50" "12" "48380141" "48380141" "subst" "0" "01804" "COL2A1_000588" "g.48380141G>A" "" "" "" "COL2A1(NM_001844.4):c.1505C>T (p.(Pro502Leu)), COL2A1(NM_001844.5):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986358G>A" "" "VUS" "" "0000322778" "0" "50" "12" "48380213" "48380213" "subst" "0.000521193" "01804" "COL2A1_000639" "g.48380213G>A" "" "" "" "COL2A1(NM_001844.4):c.1433C>T (p.(Pro478Leu)), COL2A1(NM_001844.5):c.1433C>T (p.P478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986430G>A" "" "VUS" "" "0000322779" "0" "50" "12" "48381432" "48381432" "subst" "2.88298E-5" "01804" "COL2A1_000644" "g.48381432G>T" "" "" "" "COL2A1(NM_001844.4):c.1183C>A (p.(Pro395Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987649G>T" "" "VUS" "" "0000322780" "0" "30" "12" "48389709" "48389709" "subst" "0.00828615" "01804" "COL2A1_000394" "g.48389709C>T" "" "" "" "COL2A1(NM_001844.4):c.610-7G>A (p.(=)), COL2A1(NM_001844.5):c.610-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995926C>T" "" "likely benign" "" "0000338276" "0" "10" "12" "48367054" "48367054" "subst" "0" "02327" "COL2A1_000530" "g.48367054G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47973271G>A" "" "benign" "" "0000338277" "0" "10" "12" "48368128" "48368128" "subst" "0.0537468" "02327" "COL2A1_000526" "g.48368128G>C" "" "" "" "COL2A1(NM_001844.5):c.4075-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974345G>C" "" "benign" "" "0000338278" "0" "10" "12" "48370722" "48370722" "subst" "0.00578817" "02327" "COL2A1_000538" "g.48370722C>A" "" "" "" "COL2A1(NM_001844.5):c.3328-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47976939C>A" "" "benign" "" "0000338279" "0" "90" "12" "48372413" "48372413" "subst" "0" "02327" "COL2A1_000300" "g.48372413G>A" "" "" "" "COL2A1(NM_001844.5):c.2862C>T (p.G954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978630G>A" "" "pathogenic" "" "0000338280" "0" "10" "12" "48374328" "48374328" "subst" "0.00581817" "02327" "COL2A1_000544" "g.48374328G>A" "" "" "" "COL2A1(NM_001844.5):c.2625+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47980545G>A" "" "benign" "" "0000338281" "0" "10" "12" "48376869" "48376869" "subst" "0.0456099" "02327" "COL2A1_000549" "g.48376869T>C" "" "" "" "COL2A1(NM_001844.4):c.2094+7A>G (p.(=)), COL2A1(NM_001844.5):c.2094+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47983086T>C" "" "benign" "" "0000338282" "0" "10" "12" "48379408" "48379408" "subst" "0.0477773" "02327" "COL2A1_000554" "g.48379408C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985625C>T" "" "benign" "" "0000338283" "0" "10" "12" "48379494" "48379494" "subst" "0.00326899" "02327" "COL2A1_000555" "g.48379494G>A" "" "" "" "COL2A1(NM_001844.5):c.1680+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985711G>A" "" "benign" "" "0000338284" "0" "90" "12" "48379510" "48379510" "subst" "0" "02327" "COL2A1_000556" "g.48379510C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985727C>T" "" "pathogenic" "" "0000338285" "0" "10" "12" "48380682" "48380682" "subst" "0.196728" "02327" "COL2A1_000438" "g.48380682G>A" "" "" "" "COL2A1(NM_001844.5):c.1366-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986899G>A" "" "benign" "" "0000338286" "0" "10" "12" "48389023" "48389023" "subst" "0.292812" "02327" "COL2A1_000446" "g.48389023C>T" "" "" "" "COL2A1(NM_001844.4):c.762+15G>A, COL2A1(NM_001844.5):c.762+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995240C>T" "" "benign" "" "0000338287" "0" "10" "12" "48389643" "48389643" "subst" "0.738197" "02327" "COL2A1_000448" "g.48389643A>C" "" "" "" "COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995860A>C" "" "benign" "" "0000338288" "0" "30" "12" "48389649" "48389649" "subst" "0" "02327" "COL2A1_000560" "g.48389649G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47995866G>T" "" "likely benign" "" "0000338289" "0" "10" "12" "48398002" "48398002" "subst" "0.740861" "02327" "COL2A1_000402" "g.48398002G>C" "" "" "" "COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004219G>C" "" "benign" "" "0000338290" "0" "10" "12" "48398223" "48398223" "subst" "0" "02327" "COL2A1_000568" "g.48398223G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004440G>A" "" "benign" "" "0000339103" "0" "90" "12" "48380136" "48380136" "subst" "0" "02327" "COL2A1_000121" "g.48380136C>T" "" "" "" "COL2A1(NM_001844.5):c.1510G>A (p.G504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47986353C>T" "" "pathogenic" "" "0000340183" "0" "10" "12" "48368085" "48368085" "subst" "0.00492603" "02327" "COL2A1_000532" "g.48368085G>A" "" "" "" "COL2A1(NM_001844.4):c.4104C>T (p.(Pro1368=)), COL2A1(NM_001844.5):c.4104C>T (p.P1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974302G>A" "" "benign" "" "0000340184" "0" "10" "12" "48368464" "48368464" "subst" "0.0200404" "02327" "COL2A1_000534" "g.48368464G>A" "" "" "" "COL2A1(NM_001844.5):c.4068C>T (p.(Gly1356=), p.G1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974681G>A" "" "benign" "" "0000340186" "0" "10" "12" "48372077" "48372077" "subst" "0.00599726" "02327" "COL2A1_000542" "g.48372077C>T" "" "" "" "COL2A1(NM_001844.5):c.3000G>A (p.P1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47978294C>T" "" "benign" "" "0000340187" "0" "10" "12" "48373798" "48373798" "subst" "0.0205115" "02327" "COL2A1_000543" "g.48373798G>C" "" "" "" "COL2A1(NM_001844.4):c.2673C>G (p.(Gly891=)), COL2A1(NM_001844.5):c.2673C>G (p.G891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47980015G>C" "" "benign" "" "0000340188" "0" "10" "12" "48376291" "48376291" "subst" "0.389361" "02327" "COL2A1_000411" "g.48376291G>A" "" "" "" "COL2A1(NM_001844.4):c.2295C>T (p.G765=), COL2A1(NM_001844.5):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982508G>A" "" "benign" "" "0000340189" "0" "10" "12" "48391416" "48391416" "subst" "0.205195" "02327" "COL2A1_000461" "g.48391416G>T" "" "" "" "COL2A1(NM_001844.5):c.504C>A (p.G168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997633G>T" "" "benign" "" "0000340190" "0" "30" "12" "48391485" "48391485" "subst" "0" "02327" "COL2A1_000562" "g.48391485G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997702G>C" "" "likely benign" "" "0000340191" "0" "10" "12" "48393781" "48393781" "subst" "0.00624203" "02327" "COL2A1_000566" "g.48393781G>A" "" "" "" "COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=)), COL2A1(NM_001844.5):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47999998G>A" "" "benign" "" "0000340665" "0" "30" "12" "48375911" "48375911" "subst" "0.00278159" "02327" "COL2A1_000546" "g.48375911G>A" "" "" "" "COL2A1(NM_001844.4):c.2334C>T (p.A778=), COL2A1(NM_001844.5):c.2334C>T (p.A778=, p.(Ala778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982128G>A" "" "likely benign" "" "0000341084" "0" "10" "12" "48378380" "48378380" "subst" "0.0479963" "02327" "COL2A1_000421" "g.48378380A>G" "" "" "" "COL2A1(NM_001844.4):c.1836T>C (p.(Gly612=)), COL2A1(NM_001844.5):c.1836T>C (p.G612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47984597A>G" "" "benign" "" "0000341779" "0" "50" "12" "48369775" "48369775" "subst" "0" "02327" "COL2A1_000537" "g.48369775G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47975992G>A" "" "VUS" "" "0000342508" "0" "70" "12" "48387824" "48387824" "subst" "0" "02327" "COL2A1_000027" "g.48387824G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47994041G>A" "" "likely pathogenic" "" "0000342688" "0" "90" "12" "48383582" "48383582" "subst" "0" "02327" "COL2A1_000086" "g.48383582G>A" "" "" "" "COL2A1(NM_001844.5):c.1030C>T (p.R344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47989799G>A" "" "pathogenic" "" "0000342818" "0" "50" "12" "48398097" "48398097" "subst" "6.90884E-6" "02327" "COL2A1_000567" "g.48398097C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004314C>A" "" "VUS" "" "0000343068" "0" "90" "12" "48379594" "48379594" "subst" "0" "02327" "COL2A1_000088" "g.48379594G>A" "" "" "" "COL2A1(NM_001844.4):c.1597C>T (p.R533*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985811G>A" "" "pathogenic" "" "0000343090" "0" "50" "12" "48379543" "48379543" "subst" "0" "02327" "COL2A1_000360" "g.48379543G>A" "" "" "" "COL2A1(NM_001844.5):c.1648C>T (p.R550C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47985760G>A" "" "VUS" "" "0000343212" "0" "90" "12" "48377504" "48377504" "subst" "0" "02327" "COL2A1_000089" "g.48377504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000343471" "0" "90" "12" "48373317" "48373317" "subst" "0" "02327" "COL2A1_000043" "g.48373317G>A" "" "" "" "COL2A1(NM_001844.4):c.2710C>T (p.R904C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000343802" "0" "90" "12" "48378782" "48378782" "del" "0" "02327" "COL2A1_000552" "g.48378782del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47984999del" "" "pathogenic" "" "0000343826" "0" "10" "12" "48375568" "48375568" "subst" "0.44083" "02327" "COL2A1_000408" "g.48375568A>G" "" "" "" "COL2A1(NM_001844.4):c.2400T>C (p.N800=), COL2A1(NM_001844.5):c.2400T>C (p.N800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47981785A>G" "" "benign" "" "0000344439" "0" "90" "12" "48393802" "48393802" "subst" "0" "02327" "COL2A1_000175" "g.48393802G>T" "" "" "" "COL2A1(NM_001844.5):c.192C>A (p.C64*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48000019G>T" "" "pathogenic" "" "0000344959" "0" "90" "12" "48376343" "48376343" "del" "0" "02327" "COL2A1_000547" "g.48376343del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47982560del" "" "pathogenic" "" "0000345349" "0" "30" "12" "48387263" "48387263" "subst" "0" "02327" "COL2A1_000559" "g.48387263T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47993480T>C" "" "likely benign" "" "0000345626" "0" "90" "12" "48371427" "48371427" "subst" "0" "02327" "COL2A1_000165" "g.48371427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47977644C>T" "" "pathogenic" "" "0000345637" "0" "30" "12" "48391975" "48391975" "subst" "0" "02327" "COL2A1_000564" "g.48391975C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47998192C>T" "" "likely benign" "" "0000345642" "0" "50" "12" "48370938" "48370938" "subst" "0" "02327" "COL2A1_000539" "g.48370938C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47977155C>G" "" "VUS" "" "0000345719" "0" "10" "12" "48367976" "48367976" "subst" "0.163871" "02327" "COL2A1_000001" "g.48367976C>T" "" "" "" "COL2A1(NM_001844.5):c.4213G>A (p.G1405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974193C>T" "" "benign" "" "0000347703" "0" "90" "12" "48398104" "48398104" "subst" "0" "02327" "COL2A1_000231" "g.48398104T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004321T>C" "" "pathogenic" "" "0000348131" "0" "30" "12" "48391968" "48391968" "subst" "1.21836E-5" "02327" "COL2A1_000563" "g.48391968G>C" "" "" "" "COL2A1(NM_001844.5):c.326C>G (p.P109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47998185G>C" "" "likely benign" "" "0000348184" "0" "50" "12" "48391685" "48391685" "subst" "0.00011791" "02327" "COL2A1_000388" "g.48391685G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47997902G>T" "" "VUS" "" "0000349669" "0" "10" "12" "48398080" "48398080" "subst" "0.74115" "02327" "COL2A1_000401" "g.48398080T>A" "" "" "" "COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48004297T>A" "" "benign" "" "0000350278" "0" "10" "12" "48368541" "48368541" "subst" "0.0539043" "02327" "COL2A1_000535" "g.48368541C>T" "" "" "" "COL2A1(NM_001844.5):c.3991G>A (p.V1331I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47974758C>T" "" "benign" "" "0000351230" "0" "10" "12" "48376864" "48376864" "subst" "0.0110169" "02327" "COL2A1_000548" "g.48376864C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47983081C>G" "" "benign" "" "0000351231" "0" "90" "12" "48377464" "48377464" "subst" "0" "02327" "COL2A1_000550" "g.48377464A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47983681A>T" "" "pathogenic" "" "0000351232" "0" "50" "12" "48380968" "48380968" "subst" "0" "02327" "COL2A1_000558" "g.48380968A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47987185A>C" "" "VUS" "" "0000351233" "0" "90" "12" "48392197" "48392197" "subst" "0" "02327" "COL2A1_000565" "g.48392197C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47998414C>T" "" "pathogenic" "" "0000404973" "0" "70" "12" "48373827" "48373827" "subst" "0" "01741" "COL2A1_000604" "g.48373827C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47980044C>A" "" "likely pathogenic" "" "0000405995" "0" "90" "12" "48393830" "48393831" "del" "0" "02581" "COL2A1_000058" "g.48393830_48393831del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48000047_48000048del" "" "pathogenic" "" "0000408239" "0" "90" "12" "48379747" "48379747" "subst" "0" "00006" "COL2A1_000014" "g.48379747C>T" "" "Lee ASHG2018 P1041" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47985964C>T" "" "pathogenic (dominant)" "" "0000440091" "0" "70" "12" "48389665" "48389665" "subst" "0" "01164" "COL2A1_000217" "g.48389665C>T" "" "" "" "" "ACMG grading: PP3,PM2,PM1,PP5; Glycine substitutions in the triple helical domain usually have a dramatic effect by hampering proper triple helix formation of the collagen trimer.; reported in Hoomaert 2010. EurJHumGenet 18: 872-80" "Germline" "" "" "0" "" "" "g.47995882C>T" "" "likely pathogenic" "ACMG" "0000548156" "0" "10" "12" "48368085" "48368085" "subst" "0.00492603" "02330" "COL2A1_000532" "g.48368085G>A" "" "" "" "COL2A1(NM_001844.4):c.4104C>T (p.(Pro1368=)), COL2A1(NM_001844.5):c.4104C>T (p.P1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974302G>A" "" "benign" "" "0000548157" "0" "10" "12" "48368464" "48368464" "subst" "0.0200404" "02329" "COL2A1_000534" "g.48368464G>A" "" "" "" "COL2A1(NM_001844.5):c.4068C>T (p.(Gly1356=), p.G1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974681G>A" "" "benign" "" "0000548158" "0" "10" "12" "48368541" "48368541" "subst" "0.0539043" "02329" "COL2A1_000535" "g.48368541C>T" "" "" "" "COL2A1(NM_001844.5):c.3991G>A (p.V1331I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974758C>T" "" "benign" "" "0000548159" "0" "50" "12" "48368601" "48368601" "subst" "4.06068E-6" "02330" "COL2A1_000605" "g.48368601T>C" "" "" "" "COL2A1(NM_001844.5):c.3931A>G (p.M1311V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974818T>C" "" "VUS" "" "0000548160" "0" "50" "12" "48368648" "48368648" "subst" "0" "02330" "COL2A1_000606" "g.48368648G>T" "" "" "" "COL2A1(NM_001844.5):c.3887-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974865G>T" "" "VUS" "" "0000548161" "0" "10" "12" "48368655" "48368655" "del" "0" "01943" "COL2A1_000607" "g.48368655del" "" "" "" "COL2A1(NM_001844.4):c.3887-6delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974872del" "" "benign" "" "0000548163" "0" "10" "12" "48369338" "48369338" "subst" "0" "02330" "COL2A1_000608" "g.48369338A>G" "" "" "" "COL2A1(NM_001844.5):c.3648T>C (p.P1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47975555A>G" "" "benign" "" "0000548164" "0" "50" "12" "48369342" "48369342" "subst" "2.11195E-5" "01804" "COL2A1_000609" "g.48369342C>G" "" "" "" "COL2A1(NM_001844.4):c.3644G>C (p.(Gly1215Ala)), COL2A1(NM_001844.5):c.3644G>C (p.G1215A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47975559C>G" "" "VUS" "" "0000548165" "0" "70" "12" "48369745" "48369745" "subst" "0" "02327" "COL2A1_000610" "g.48369745C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47975962C>G" "" "likely pathogenic" "" "0000548166" "0" "90" "12" "48369769" "48369769" "subst" "0" "02327" "COL2A1_000181" "g.48369769G>A" "" "" "" "COL2A1(NM_001844.5):c.3574C>T (p.R1192*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47975986G>A" "" "pathogenic" "" "0000548167" "0" "30" "12" "48369836" "48369836" "subst" "3.65553E-5" "02330" "COL2A1_000611" "g.48369836G>A" "" "" "" "COL2A1(NM_001844.5):c.3507C>T (p.V1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47976053G>A" "" "likely benign" "" "0000548168" "0" "70" "12" "48370590" "48370590" "subst" "0" "02329" "COL2A1_000612" "g.48370590C>T" "" "" "" "COL2A1(NM_001844.5):c.3435+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47976807C>T" "" "likely pathogenic" "" "0000548169" "0" "50" "12" "48370605" "48370605" "subst" "0" "01804" "COL2A1_000613" "g.48370605G>T" "" "" "" "COL2A1(NM_001844.4):c.3425C>A (p.(Pro1142His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47976822G>T" "" "VUS" "" "0000548170" "0" "10" "12" "48370722" "48370722" "subst" "0.00578817" "02329" "COL2A1_000538" "g.48370722C>A" "" "" "" "COL2A1(NM_001844.5):c.3328-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47976939C>A" "" "benign" "" "0000548171" "0" "50" "12" "48370893" "48370893" "subst" "0" "02327" "COL2A1_000614" "g.48370893C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47977110C>T" "" "VUS" "" "0000548172" "0" "10" "12" "48370936" "48370936" "subst" "0" "02330" "COL2A1_000616" "g.48370936A>C" "" "" "" "COL2A1(NM_001844.5):c.3276T>G (p.G1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47977153A>C" "" "benign" "" "0000548173" "0" "10" "12" "48371428" "48371428" "subst" "4.06881E-6" "02330" "COL2A1_000617" "g.48371428G>A" "" "" "" "COL2A1(NM_001844.4):c.3120C>T (p.P1040=), COL2A1(NM_001844.5):c.3120C>T (p.P1040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47977645G>A" "" "benign" "" "0000548174" "0" "50" "12" "48371821" "48371821" "subst" "1.222E-5" "01943" "COL2A1_000618" "g.48371821G>A" "" "" "" "COL2A1(NM_001844.4):c.3083C>T (p.T1028M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978038G>A" "" "VUS" "" "0000548175" "0" "10" "12" "48372065" "48372065" "subst" "0.000448493" "02330" "COL2A1_000619" "g.48372065C>T" "" "" "" "COL2A1(NM_001844.4):c.3003+9G>A, COL2A1(NM_001844.5):c.3003+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978282C>T" "" "benign" "" "0000548176" "0" "10" "12" "48372077" "48372077" "subst" "0.00599726" "02329" "COL2A1_000542" "g.48372077C>T" "" "" "" "COL2A1(NM_001844.5):c.3000G>A (p.P1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978294C>T" "" "benign" "" "0000548177" "0" "90" "12" "48372379" "48372379" "subst" "0" "02325" "COL2A1_000620" "g.48372379C>T" "" "" "" "COL2A1(NM_001844.5):c.2895+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978596C>T" "" "pathogenic" "" "0000548178" "0" "90" "12" "48372415" "48372415" "subst" "0" "02327" "COL2A1_000621" "g.48372415C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978632C>T" "" "pathogenic" "" "0000548179" "0" "30" "12" "48372444" "48372444" "subst" "0.000200158" "01943" "COL2A1_000622" "g.48372444G>A" "" "" "" "COL2A1(NM_001844.4):c.2831C>T (p.P944L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978661G>A" "" "likely benign" "" "0000548180" "0" "30" "12" "48373356" "48373356" "subst" "0.00030095" "01943" "COL2A1_000623" "g.48373356G>A" "" "" "" "COL2A1(NM_001844.4):c.2680-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47979573G>A" "" "likely benign" "" "0000548181" "0" "10" "12" "48374328" "48374328" "subst" "0.00581817" "02329" "COL2A1_000544" "g.48374328G>A" "" "" "" "COL2A1(NM_001844.5):c.2625+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980545G>A" "" "benign" "" "0000548182" "0" "50" "12" "48374360" "48374360" "subst" "1.25278E-5" "01943" "COL2A1_000624" "g.48374360G>A" "" "" "" "COL2A1(NM_001844.4):c.2602C>T (p.P868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980577G>A" "" "VUS" "" "0000548183" "0" "10" "12" "48374731" "48374731" "subst" "0.0024561" "02329" "COL2A1_000625" "g.48374731C>G" "" "" "" "COL2A1(NM_001844.4):c.2484G>C (p.(Gly828=)), COL2A1(NM_001844.5):c.2484G>C (p.G828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980948C>G" "" "benign" "" "0000548184" "0" "10" "12" "48374770" "48374770" "subst" "0.000222273" "02330" "COL2A1_000626" "g.48374770T>G" "" "" "" "COL2A1(NM_001844.5):c.2464-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980987T>G" "" "benign" "" "0000548185" "0" "30" "12" "48375616" "48375616" "subst" "1.31182E-5" "02330" "COL2A1_000627" "g.48375616C>T" "" "" "" "COL2A1(NM_001844.4):c.2356-4G>A, COL2A1(NM_001844.5):c.2356-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47981833C>T" "" "likely benign" "" "0000548186" "0" "30" "12" "48375616" "48375616" "subst" "1.31182E-5" "01943" "COL2A1_000627" "g.48375616C>T" "" "" "" "COL2A1(NM_001844.4):c.2356-4G>A, COL2A1(NM_001844.5):c.2356-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47981833C>T" "" "likely benign" "" "0000548187" "0" "30" "12" "48375878" "48375878" "subst" "5.27936E-5" "02330" "COL2A1_000628" "g.48375878G>A" "" "" "" "COL2A1(NM_001844.5):c.2355+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47982095G>A" "" "likely benign" "" "0000548188" "0" "30" "12" "48375946" "48375946" "subst" "2.0308E-5" "01804" "COL2A1_000581" "g.48375946G>A" "" "" "" "COL2A1(NM_001844.4):c.2302-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47982163G>A" "" "likely benign" "" "0000548189" "0" "10" "12" "48376664" "48376664" "subst" "0.00152695" "02329" "COL2A1_000584" "g.48376664G>T" "" "" "" "COL2A1(NM_001844.5):c.2160C>A (p.G720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47982881G>T" "" "benign" "" "0000548190" "0" "30" "12" "48376733" "48376733" "subst" "0.00184002" "01943" "COL2A1_000629" "g.48376733C>T" "" "" "" "COL2A1(NM_001844.4):c.2095-4G>A, COL2A1(NM_001844.5):c.2095-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47982950C>T" "" "likely benign" "" "0000548192" "0" "10" "12" "48376869" "48376869" "subst" "0.0456099" "01804" "COL2A1_000549" "g.48376869T>C" "" "" "" "COL2A1(NM_001844.4):c.2094+7A>G (p.(=)), COL2A1(NM_001844.5):c.2094+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47983086T>C" "" "benign" "" "0000548193" "0" "90" "12" "48376911" "48376911" "subst" "0" "02327" "COL2A1_000369" "g.48376911C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47983128C>T" "" "pathogenic" "" "0000548194" "0" "30" "12" "48377898" "48377898" "subst" "0.0023287" "01804" "COL2A1_000586" "g.48377898G>A" "" "" "" "COL2A1(NM_001844.4):c.1913C>T (p.T638I, p.(Thr638Ile)), COL2A1(NM_001844.5):c.1913C>T (p.T638I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47984115G>A" "" "likely benign" "" "0000548195" "0" "70" "12" "48378337" "48378337" "subst" "0" "02327" "COL2A1_000630" "g.48378337C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47984554C>G" "" "likely pathogenic" "" "0000548196" "0" "90" "12" "48378376" "48378376" "del" "0" "02327" "COL2A1_000631" "g.48378376del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47984593del" "" "pathogenic" "" "0000548197" "0" "30" "12" "48378380" "48378380" "subst" "0.0479963" "01804" "COL2A1_000421" "g.48378380A>G" "" "" "" "COL2A1(NM_001844.4):c.1836T>C (p.(Gly612=)), COL2A1(NM_001844.5):c.1836T>C (p.G612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47984597A>G" "" "likely benign" "" "0000548198" "0" "30" "12" "48378873" "48378873" "subst" "4.93239E-5" "02327" "COL2A1_000632" "g.48378873C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985090C>A" "" "likely benign" "" "0000548199" "0" "50" "12" "48379512" "48379512" "subst" "0" "01943" "COL2A1_000633" "g.48379512C>T" "" "" "" "COL2A1(NM_001844.4):c.1679G>A (p.R560Q, p.(Arg560Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985729C>T" "" "VUS" "" "0000548200" "0" "50" "12" "48379530" "48379530" "subst" "1.22311E-5" "02330" "COL2A1_000634" "g.48379530G>A" "" "" "" "COL2A1(NM_001844.5):c.1661C>T (p.P554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985747G>A" "" "VUS" "" "0000548201" "0" "90" "12" "48379739" "48379739" "subst" "0" "02327" "COL2A1_000062" "g.48379739C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985956C>T" "" "pathogenic" "" "0000548202" "0" "50" "12" "48380113" "48380113" "subst" "0" "02327" "COL2A1_000636" "g.48380113C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986330C>T" "" "VUS" "" "0000548203" "0" "50" "12" "48380166" "48380166" "subst" "0" "02327" "COL2A1_000637" "g.48380166G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986383G>A" "" "VUS" "" "0000548204" "0" "90" "12" "48380211" "48380211" "subst" "0" "01943" "COL2A1_000638" "g.48380211G>A" "" "" "" "COL2A1(NM_001844.4):c.1435C>T (p.Q479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986428G>A" "" "pathogenic" "" "0000548205" "0" "90" "12" "48380211" "48380211" "subst" "0" "02327" "COL2A1_000638" "g.48380211G>A" "" "" "" "COL2A1(NM_001844.4):c.1435C>T (p.Q479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986428G>A" "" "pathogenic" "" "0000548206" "0" "90" "12" "48380662" "48380662" "dup" "0" "02329" "COL2A1_000640" "g.48380662dup" "" "" "" "COL2A1(NM_001844.5):c.1376dupG (p.I460Yfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986879dup" "" "pathogenic" "" "0000548207" "0" "50" "12" "48380899" "48380899" "subst" "0" "01943" "COL2A1_000641" "g.48380899G>C" "" "" "" "COL2A1(NM_001844.4):c.1327C>G (p.Q443E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987116G>C" "" "VUS" "" "0000548208" "0" "90" "12" "48380914" "48380914" "subst" "0" "02329" "COL2A1_000096" "g.48380914C>T" "" "" "" "COL2A1(NM_001844.5):c.1312G>A (p.G438S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987131C>T" "" "pathogenic" "" "0000548209" "0" "70" "12" "48380940" "48380940" "subst" "0" "02327" "COL2A1_000642" "g.48380940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987157C>T" "" "likely pathogenic" "" "0000548210" "0" "30" "12" "48380963" "48380963" "subst" "4.06177E-6" "01804" "COL2A1_000643" "g.48380963T>G" "" "" "" "COL2A1(NM_001844.4):c.1267-4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987180T>G" "" "likely benign" "" "0000548211" "0" "10" "12" "48381045" "48381045" "subst" "0.0135776" "01804" "COL2A1_000591" "g.48381045C>T" "" "" "" "COL2A1(NM_001844.4):c.1266+7G>A (p.(=)), COL2A1(NM_001844.5):c.1266+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987262C>T" "" "benign" "" "0000548212" "0" "90" "12" "48381393" "48381393" "subst" "0" "02327" "COL2A1_000288" "g.48381393C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987610C>T" "" "pathogenic" "" "0000548213" "0" "30" "12" "48381394" "48381394" "subst" "0.00421689" "01804" "COL2A1_000592" "g.48381394G>A" "" "" "" "COL2A1(NM_001844.4):c.1221C>T (p.S407=, p.(Ser407=)), COL2A1(NM_001844.5):c.1221C>T (p.S407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987611G>A" "" "likely benign" "" "0000548214" "0" "10" "12" "48381394" "48381394" "subst" "0.00421689" "02329" "COL2A1_000592" "g.48381394G>A" "" "" "" "COL2A1(NM_001844.4):c.1221C>T (p.S407=, p.(Ser407=)), COL2A1(NM_001844.5):c.1221C>T (p.S407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987611G>A" "" "benign" "" "0000548215" "0" "50" "12" "48381468" "48381468" "subst" "4.15572E-6" "02327" "COL2A1_000645" "g.48381468G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987685G>A" "" "VUS" "" "0000548216" "0" "50" "12" "48381477" "48381477" "subst" "2.50472E-5" "01943" "COL2A1_000646" "g.48381477T>C" "" "" "" "COL2A1(NM_001844.4):c.1138A>G (p.T380A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47987694T>C" "" "VUS" "" "0000548217" "0" "70" "12" "48383018" "48383018" "subst" "0" "02327" "COL2A1_000647" "g.48383018C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47989235C>T" "" "likely pathogenic" "" "0000548218" "0" "10" "12" "48383079" "48383079" "subst" "1.25748E-5" "02330" "COL2A1_000648" "g.48383079C>T" "" "" "" "COL2A1(NM_001844.5):c.1069-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47989296C>T" "" "benign" "" "0000548219" "0" "90" "12" "48383582" "48383582" "subst" "0" "02330" "COL2A1_000086" "g.48383582G>A" "" "" "" "COL2A1(NM_001844.5):c.1030C>T (p.R344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47989799G>A" "" "pathogenic" "" "0000548220" "0" "70" "12" "48386687" "48386687" "subst" "0" "02327" "COL2A1_000649" "g.48386687C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47992904C>T" "" "likely pathogenic" "" "0000548221" "0" "90" "12" "48389061" "48389061" "del" "0" "02327" "COL2A1_000650" "g.48389061del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995278del" "" "pathogenic" "" "0000548222" "0" "10" "12" "48389485" "48389485" "subst" "0.00157575" "02330" "COL2A1_000651" "g.48389485G>A" "" "" "" "COL2A1(NM_001844.4):c.708+8C>T (p.(=)), COL2A1(NM_001844.5):c.708+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995702G>A" "" "benign" "" "0000548223" "0" "50" "12" "48389680" "48389680" "subst" "0" "01943" "COL2A1_000652" "g.48389680G>A" "" "" "" "COL2A1(NM_001844.4):c.632C>T (p.P211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995897G>A" "" "VUS" "" "0000548224" "0" "10" "12" "48389709" "48389709" "subst" "0.00828615" "02329" "COL2A1_000394" "g.48389709C>T" "" "" "" "COL2A1(NM_001844.4):c.610-7G>A (p.(=)), COL2A1(NM_001844.5):c.610-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995926C>T" "" "benign" "" "0000548225" "0" "10" "12" "48390334" "48390334" "subst" "2.03034E-5" "02330" "COL2A1_000653" "g.48390334T>C" "" "" "" "COL2A1(NM_001844.5):c.606A>G (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47996551T>C" "" "benign" "" "0000548226" "0" "50" "12" "48391412" "48391412" "subst" "0" "01943" "COL2A1_000654" "g.48391412G>T" "" "" "" "COL2A1(NM_001844.4):c.508C>A (p.P170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47997629G>T" "" "VUS" "" "0000548227" "0" "10" "12" "48391657" "48391657" "subst" "0.0376268" "01804" "COL2A1_000600" "g.48391657T>A" "" "" "" "COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp)), COL2A1(NM_001844.5):c.426A>T (p.E142D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47997874T>A" "" "benign" "" "0000548228" "0" "30" "12" "48391968" "48391968" "subst" "1.21836E-5" "02330" "COL2A1_000563" "g.48391968G>C" "" "" "" "COL2A1(NM_001844.5):c.326C>G (p.P109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47998185G>C" "" "likely benign" "" "0000548229" "0" "50" "12" "48393848" "48393848" "subst" "2.43944E-5" "02327" "COL2A1_000656" "g.48393848G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48000065G>A" "" "VUS" "" "0000548230" "0" "50" "12" "48398056" "48398056" "subst" "0" "02330" "COL2A1_000657" "g.48398056C>A" "" "" "" "COL2A1(NM_001844.5):c.49G>T (p.V17F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48004273C>A" "" "VUS" "" "0000614150" "0" "30" "12" "48367986" "48367986" "subst" "1.62426E-5" "02330" "COL2A1_000659" "g.48367986G>A" "" "" "" "COL2A1(NM_001844.5):c.4203C>T (p.D1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974203G>A" "" "likely benign" "" "0000614151" "0" "50" "12" "48368508" "48368508" "subst" "0" "01943" "COL2A1_000661" "g.48368508T>C" "" "" "" "COL2A1(NM_001844.4):c.4024A>G (p.K1342E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974725T>C" "" "VUS" "" "0000614152" "0" "90" "12" "48369754" "48369754" "subst" "0" "02327" "COL2A1_000006" "g.48369754C>T" "" "" "" "COL2A1(NM_001844.5):c.3589G>A (p.G1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47975971C>T" "" "pathogenic" "" "0000614153" "0" "90" "12" "48372388" "48372388" "subst" "0" "02325" "COL2A1_000662" "g.48372388C>T" "" "" "" "COL2A1(NM_001844.5):c.2887G>A (p.G963S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978605C>T" "" "pathogenic" "" "0000614154" "0" "90" "12" "48373317" "48373317" "subst" "0" "01943" "COL2A1_000043" "g.48373317G>A" "" "" "" "COL2A1(NM_001844.4):c.2710C>T (p.R904C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47979534G>A" "" "pathogenic" "" "0000614155" "0" "50" "12" "48374347" "48374347" "subst" "0" "01943" "COL2A1_000663" "g.48374347G>A" "" "" "" "COL2A1(NM_001844.4):c.2615C>T (p.P872L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980564G>A" "" "VUS" "" "0000614156" "0" "70" "12" "48378803" "48378803" "subst" "0" "02327" "COL2A1_000664" "g.48378803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985020C>T" "" "likely pathogenic" "" "0000614157" "0" "90" "12" "48379730" "48379730" "subst" "0" "02325" "COL2A1_000635" "g.48379730C>T" "" "" "" "COL2A1(NM_001844.4):c.1546G>A (p.(Gly516Ser)), COL2A1(NM_001844.5):c.1546G>A (p.G516S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985947C>T" "" "pathogenic" "" "0000614158" "0" "30" "12" "48380239" "48380239" "subst" "0.000257428" "02330" "COL2A1_000665" "g.48380239A>G" "" "" "" "COL2A1(NM_001844.5):c.1420-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986456A>G" "" "likely benign" "" "0000614159" "0" "30" "12" "48383556" "48383556" "subst" "0.000158799" "01943" "COL2A1_000666" "g.48383556G>A" "" "" "" "COL2A1(NM_001844.4):c.1056C>T (p.P352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47989773G>A" "" "likely benign" "" "0000614160" "0" "90" "12" "48387611" "48387611" "subst" "0" "02327" "COL2A1_000024" "g.48387611G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47993828G>A" "" "pathogenic" "" "0000614161" "0" "90" "12" "48391428" "48391428" "del" "0" "02327" "COL2A1_000156" "g.48391428del" "" "" "" "COL2A1(NM_001844.5):c.492delT (p.G165Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47997645del" "" "pathogenic" "" "0000614162" "0" "30" "12" "48393748" "48393748" "subst" "0.000272086" "02330" "COL2A1_000667" "g.48393748G>A" "" "" "" "COL2A1(NM_001844.5):c.246C>T (p.F82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47999965G>A" "" "likely benign" "" "0000622892" "0" "50" "12" "48367303" "48367303" "subst" "4.07362E-6" "01943" "COL2A1_000658" "g.48367303C>T" "" "" "" "COL2A1(NM_001844.4):c.4351G>A (p.E1451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47973520C>T" "" "VUS" "" "0000622893" "0" "70" "12" "48368023" "48368025" "dup" "0" "02325" "COL2A1_000660" "g.48368023_48368025dup" "" "" "" "COL2A1(NM_001844.5):c.4166_4168dupTCA (p.I1389dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974240_47974242dup" "" "likely pathogenic" "" "0000622894" "0" "30" "12" "48374388" "48374388" "subst" "0.00230571" "01943" "COL2A1_000136" "g.48374388G>A" "" "" "" "COL2A1(NM_001844.4):c.2574C>T (p.G858=), COL2A1(NM_001844.5):c.2574C>T (p.G858=, p.(Gly858=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980605G>A" "" "likely benign" "" "0000622895" "0" "90" "12" "48374724" "48374724" "subst" "0" "02325" "COL2A1_000275" "g.48374724C>T" "" "" "" "COL2A1(NM_001844.5):c.2491G>A (p.G831R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980941C>T" "" "pathogenic" "" "0000622896" "0" "10" "12" "48375568" "48375568" "subst" "0.44083" "01943" "COL2A1_000408" "g.48375568A>G" "" "" "" "COL2A1(NM_001844.4):c.2400T>C (p.N800=), COL2A1(NM_001844.5):c.2400T>C (p.N800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47981785A>G" "" "benign" "" "0000622897" "0" "10" "12" "48376291" "48376291" "subst" "0.389361" "01943" "COL2A1_000411" "g.48376291G>A" "" "" "" "COL2A1(NM_001844.4):c.2295C>T (p.G765=), COL2A1(NM_001844.5):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47982508G>A" "" "benign" "" "0000622898" "0" "10" "12" "48389023" "48389023" "subst" "0.292812" "01943" "COL2A1_000446" "g.48389023C>T" "" "" "" "COL2A1(NM_001844.4):c.762+15G>A, COL2A1(NM_001844.5):c.762+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995240C>T" "" "benign" "" "0000622899" "0" "10" "12" "48389643" "48389643" "subst" "0.738197" "01943" "COL2A1_000448" "g.48389643A>C" "" "" "" "COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47995860A>C" "" "benign" "" "0000622900" "0" "10" "12" "48398002" "48398002" "subst" "0.740861" "01943" "COL2A1_000402" "g.48398002G>C" "" "" "" "COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48004219G>C" "" "benign" "" "0000630877" "0" "70" "12" "48379369" "48379369" "subst" "0" "01807" "COL2A1_000668" "g.48379369C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47985586C>A" "" "likely pathogenic" "" "0000648564" "1" "50" "12" "48367873" "48367873" "subst" "7.73018E-5" "03575" "COL2A1_000081" "g.48367873G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs121912886}" "Germline" "" "rs121912886" "0" "" "" "g.47974090G>A" "" "VUS" "" "0000648565" "1" "30" "12" "48368541" "48368541" "subst" "0.0539043" "03575" "COL2A1_000535" "g.48368541C>T" "122/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "122 heterozygous; {DB:CLININrs12721427}" "Germline" "" "rs12721427" "0" "" "" "g.47974758C>T" "" "likely benign" "" "0000648566" "1" "90" "12" "48374432" "48374432" "subst" "0" "03575" "COL2A1_000669" "g.48374432G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727607}" "Germline" "" "rs794727607" "0" "" "" "g.47980649G>A" "" "pathogenic" "" "0000648567" "1" "70" "12" "48375161" "48375161" "subst" "0" "03575" "COL2A1_000670" "g.48375161C>A" "17/2686 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs794727596}" "Germline" "" "rs794727596" "0" "" "" "g.47981378C>A" "" "likely pathogenic" "" "0000648568" "1" "90" "12" "48393736" "48393736" "subst" "0" "03575" "COL2A1_000084" "g.48393736G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs794727261}" "Germline" "" "rs794727261" "0" "" "" "g.47999953G>T" "" "pathogenic" "" "0000657090" "0" "50" "12" "48367264" "48367264" "subst" "0" "01943" "COL2A1_000671" "g.48367264C>T" "" "" "" "COL2A1(NM_001844.4):c.4390G>A (p.D1464N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47973481C>T" "" "VUS" "" "0000657091" "0" "50" "12" "48367873" "48367873" "subst" "7.73018E-5" "02327" "COL2A1_000081" "g.48367873G>A" "" "" "" "COL2A1(NM_001844.4):c.4316C>T (p.(Thr1439Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47974090G>A" "" "VUS" "" "0000657092" "0" "90" "12" "48371838" "48371855" "del" "0" "02325" "COL2A1_000522" "g.48371838_48371855del" "" "" "" "COL2A1(NM_001844.5):c.3062_3079delCCGTGGGTCCTCCTGGCC (p.P1021_G1026del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47978055_47978072del" "" "pathogenic" "" "0000657093" "0" "30" "12" "48373798" "48373798" "subst" "0.0205115" "01804" "COL2A1_000543" "g.48373798G>C" "" "" "" "COL2A1(NM_001844.4):c.2673C>G (p.(Gly891=)), COL2A1(NM_001844.5):c.2673C>G (p.G891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47980015G>C" "" "likely benign" "" "0000657095" "0" "90" "12" "48379733" "48379733" "subst" "0" "02327" "COL2A1_000358" "g.48379733G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47985950G>A" "" "pathogenic" "" "0000657096" "0" "70" "12" "48379984" "48379984" "subst" "0" "02327" "COL2A1_000317" "g.48379984C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47986201C>T" "" "likely pathogenic" "" "0000657097" "0" "50" "12" "48386675" "48386675" "subst" "4.06167E-6" "02327" "COL2A1_000673" "g.48386675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47992892G>A" "" "VUS" "" "0000660691" "0" "70" "12" "48378384" "48378384" "subst" "0" "01164" "COL2A1_000674" "g.48378384T>A" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.47984601T>A" "" "likely pathogenic" "ACMG" "0000665266" "0" "90" "12" "48383041" "48383052" "delins" "0" "01741" "COL2A1_000675" "g.48383041_48383052delinsGTCC" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "g.47989258_47989269delinsGTCC" "" "pathogenic" "" "0000669174" "3" "30" "12" "48368541" "48368541" "subst" "0.0539043" "03575" "COL2A1_000535" "g.48368541C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs12721427}" "Germline" "" "rs12721427" "0" "" "" "g.47974758C>T" "" "likely benign" "" "0000679531" "0" "90" "12" "48374353" "48374353" "subst" "0" "01943" "COL2A1_000676" "g.48374353C>T" "" "" "" "COL2A1(NM_001844.4):c.2609G>A (p.G870E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679532" "0" "30" "12" "48377231" "48377231" "subst" "0.000138405" "01943" "COL2A1_000677" "g.48377231G>A" "" "" "" "COL2A1(NM_001844.4):c.1996-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679533" "0" "30" "12" "48389485" "48389485" "subst" "0.00157575" "01804" "COL2A1_000651" "g.48389485G>A" "" "" "" "COL2A1(NM_001844.4):c.708+8C>T (p.(=)), COL2A1(NM_001844.5):c.708+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679534" "0" "30" "12" "48390390" "48390390" "subst" "0.000154336" "01943" "COL2A1_000678" "g.48390390C>T" "" "" "" "COL2A1(NM_001844.4):c.550G>A (p.A184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679535" "0" "10" "12" "48398080" "48398080" "subst" "0.74115" "01943" "COL2A1_000401" "g.48398080T>A" "" "" "" "COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000683628" "0" "70" "12" "48373308" "48373308" "dup" "0" "01164" "COL2A1_000203" "g.48373308dup" "" "Hoornaert et al. 2010. Eur. J. Hum. Genet. 18: 872" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.47979525dup" "" "likely pathogenic" "ACMG" "0000685163" "0" "90" "12" "48387804" "48387805" "ins" "0" "00004" "COL2A1_000679" "g.48387804_48387805insA" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685164" "0" "70" "12" "48379984" "48379984" "subst" "0" "00004" "COL2A1_000317" "g.48379984C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000691338" "0" "30" "12" "48368085" "48368085" "subst" "0.00492603" "01804" "COL2A1_000532" "g.48368085G>A" "" "" "" "COL2A1(NM_001844.4):c.4104C>T (p.(Pro1368=)), COL2A1(NM_001844.5):c.4104C>T (p.P1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691339" "0" "90" "12" "48372481" "48372481" "subst" "0" "01943" "COL2A1_000005" "g.48372481G>A" "" "" "" "COL2A1(NM_001844.4):c.2794C>T (p.R932*), COL2A1(NM_001844.5):c.2794C>T (p.R932*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691340" "0" "90" "12" "48374733" "48374734" "del" "0" "02327" "COL2A1_000680" "g.48374733_48374734del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691341" "0" "90" "12" "48380868" "48380868" "subst" "0" "01943" "COL2A1_000068" "g.48380868C>A" "" "" "" "COL2A1(NM_001844.4):c.1358G>T (p.G453V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000704303" "0" "70" "12" "48367265" "48367267" "del" "0" "01164" "COL2A1_000681" "g.48367265_48367267del" "" "" "" "" "ACMG: PS2_supporting, PM2, PM4 class 3; de novo confirmed in trio-exom analysis" "De novo" "?" "" "0" "" "" "g.47973482_47973484del" "" "VUS (!)" "ACMG" "0000710709" "0" "90" "12" "48372467" "48372467" "del" "0" "01807" "COL2A1_000204" "g.48372467del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000713910" "1" "90" "12" "48368646" "48368646" "subst" "0" "00000" "COL2A1_000682" "g.48368646C>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47974863C>A" "" "pathogenic (dominant)" "" "0000713911" "1" "90" "12" "48371410" "48371410" "del" "0" "00000" "COL2A1_000030" "g.48371410del" "" "{PMID:Zhou 2018:29453956}" "" "3138delT" "" "Germline" "" "rs121912873" "0" "" "" "g.47977627del" "" "pathogenic (dominant)" "" "0000713912" "1" "90" "12" "48371792" "48371792" "subst" "0" "00000" "COL2A1_000480" "g.48371792C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47978009C>T" "" "pathogenic (dominant)" "" "0000713913" "1" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00000" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic (dominant)" "" "0000713914" "1" "90" "12" "48371855" "48371855" "del" "0" "00000" "COL2A1_000683" "g.48371855del" "" "{PMID:Zhou 2018:29453956}" "" "3049delG" "" "Germline" "" "" "0" "" "" "g.47978072del" "" "pathogenic (dominant)" "" "0000713915" "1" "90" "12" "48372457" "48372457" "subst" "0" "00000" "COL2A1_000479" "g.48372457G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47978674G>A" "" "pathogenic (dominant)" "" "0000713916" "1" "90" "12" "48373317" "48373317" "subst" "0" "00000" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "rs121912882" "0" "" "" "g.47979534G>A" "" "pathogenic (dominant)" "" "0000713917" "1" "90" "12" "48375892" "48375892" "subst" "0" "00000" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47982109G>A" "" "pathogenic (dominant)" "" "0000713918" "1" "90" "12" "48376673" "48376677" "delins" "0" "00000" "COL2A1_000684" "g.48376673_48376677delinsG" "" "{PMID:Zhou 2018:29453956}" "" "2147_2151del5insC" "" "Germline" "" "" "0" "" "" "g.47982890_47982894delinsG" "" "pathogenic (dominant)" "" "0000713919" "1" "90" "12" "48377170" "48377170" "subst" "0" "00000" "COL2A1_000685" "g.48377170G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47983387G>A" "" "pathogenic (dominant)" "" "0000713920" "1" "90" "12" "48377504" "48377504" "subst" "0" "00000" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "rs121912893" "0" "" "" "g.47983721G>A" "" "pathogenic (dominant)" "" "0000713921" "1" "90" "12" "48379358" "48379358" "subst" "0" "00000" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47985575G>A" "" "pathogenic (dominant)" "" "0000713922" "1" "90" "12" "48380652" "48380652" "subst" "0" "00000" "COL2A1_000686" "g.48380652C>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47986869C>A" "" "pathogenic (dominant)" "" "0000713923" "1" "90" "12" "48381052" "48381052" "del" "0" "00000" "COL2A1_000687" "g.48381052del" "" "{PMID:Zhou 2018:29453956}" "" "1266delT" "" "Germline" "" "" "0" "" "" "g.47987269del" "" "pathogenic (dominant)" "" "0000713924" "1" "90" "12" "48386698" "48386698" "del" "0" "00000" "COL2A1_000688" "g.48386698del" "" "{PMID:Zhou 2018:29453956}" "" "986delT (G330fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713925" "1" "90" "12" "48390342" "48390342" "subst" "0" "00000" "COL2A1_000689" "g.48390342G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47996559G>A" "" "pathogenic (dominant)" "" "0000724038" "0" "10" "12" "48367186" "48367186" "subst" "0.00947327" "02327" "COL2A1_000463" "g.48367186G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724039" "0" "50" "12" "48367218" "48367218" "subst" "4.06058E-6" "01804" "COL2A1_000690" "g.48367218A>G" "" "" "" "COL2A1(NM_001844.4):c.4436T>C (p.(Val1479Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724040" "0" "50" "12" "48367264" "48367264" "subst" "0" "02327" "COL2A1_000691" "g.48367264C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724041" "0" "30" "12" "48367426" "48367426" "subst" "0" "02329" "COL2A1_000692" "g.48367426C>T" "" "" "" "COL2A1(NM_001844.5):c.4318-90G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724042" "0" "90" "12" "48368115" "48368115" "subst" "0" "01943" "COL2A1_000533" "g.48368115C>G" "" "" "" "COL2A1(NM_001844.4):c.4075-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724043" "0" "30" "12" "48369250" "48369250" "subst" "0.000646263" "01804" "COL2A1_000528" "g.48369250C>T" "" "" "" "COL2A1(NM_001844.4):c.3736G>A (p.G1246S, p.(Gly1246Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724044" "0" "50" "12" "48371135" "48371135" "subst" "0" "02325" "COL2A1_000694" "g.48371135G>A" "" "" "" "COL2A1(NM_001844.5):c.3241C>T (p.P1081S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724045" "0" "30" "12" "48372128" "48372128" "subst" "7.72578E-5" "01943" "COL2A1_000696" "g.48372128G>A" "" "" "" "COL2A1(NM_001844.4):c.2949C>T (p.V983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724046" "0" "50" "12" "48375136" "48375136" "subst" "0" "02327" "COL2A1_000697" "g.48375136C>G" "" "" "" "COL2A1(NM_001844.4):c.2453G>C (p.R818P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724047" "0" "90" "12" "48375180" "48375180" "subst" "0" "01943" "COL2A1_000698" "g.48375180C>T" "" "" "" "COL2A1(NM_001844.4):c.2410-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724048" "0" "90" "12" "48375592" "48375592" "del" "0" "01943" "COL2A1_000050" "g.48375592del" "" "" "" "COL2A1(NM_001844.4):c.2381delC (p.P794Lfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724049" "0" "70" "12" "48377499" "48377499" "subst" "0" "02327" "COL2A1_000173" "g.48377499G>A" "" "" "" "COL2A1(NM_001844.5):c.1962C>T (p.G654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724050" "0" "70" "12" "48379351" "48379351" "subst" "0" "02327" "COL2A1_000700" "g.48379351C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724051" "0" "30" "12" "48379557" "48379557" "subst" "0.000155637" "01943" "COL2A1_000701" "g.48379557T>C" "" "" "" "COL2A1(NM_001844.4):c.1634A>G (p.N545S, p.(Asn545Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724052" "0" "30" "12" "48379557" "48379557" "subst" "0.000155637" "01804" "COL2A1_000701" "g.48379557T>C" "" "" "" "COL2A1(NM_001844.4):c.1634A>G (p.N545S, p.(Asn545Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724053" "0" "50" "12" "48380926" "48380926" "subst" "0.000556336" "01943" "COL2A1_000351" "g.48380926G>A" "" "" "" "COL2A1(NM_001844.4):c.1300C>T (p.P434S, p.(Pro434Ser)), COL2A1(NM_001844.5):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724054" "0" "30" "12" "48386330" "48386330" "subst" "0" "02329" "COL2A1_000703" "g.48386330A>G" "" "" "" "COL2A1(NM_001844.5):c.1023+331T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724055" "0" "30" "12" "48387235" "48387235" "subst" "0.000121829" "01943" "COL2A1_000704" "g.48387235A>G" "" "" "" "COL2A1(NM_001844.4):c.969+6T>C, COL2A1(NM_001844.5):c.969+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724056" "0" "30" "12" "48388231" "48388231" "subst" "0" "02329" "COL2A1_000705" "g.48388231A>C" "" "" "" "COL2A1(NM_001844.5):c.792T>G (p.G264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724057" "0" "90" "12" "48389674" "48389674" "subst" "0" "01943" "COL2A1_000449" "g.48389674C>T" "" "" "" "COL2A1(NM_001844.4):c.638G>A (p.G213D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724058" "0" "90" "12" "48389692" "48389692" "subst" "0" "02327" "COL2A1_000706" "g.48389692C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724059" "0" "10" "12" "48389709" "48389709" "subst" "0.00828615" "02327" "COL2A1_000394" "g.48389709C>T" "" "" "" "COL2A1(NM_001844.4):c.610-7G>A (p.(=)), COL2A1(NM_001844.5):c.610-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724060" "0" "30" "12" "48393780" "48393780" "subst" "4.06098E-6" "01943" "COL2A1_000707" "g.48393780C>T" "" "" "" "COL2A1(NM_001844.4):c.214G>A (p.V72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729878" "0" "90" "12" "48377468" "48377468" "subst" "0" "00000" "COL2A1_000699" "g.48377468G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.1993C>T:p.(Gln665*)" "" "De novo" "" "" "0" "" "" "g.47983685G>A" "" "pathogenic (dominant)" "" "0000729879" "0" "90" "12" "48371881" "48371881" "subst" "0" "00000" "COL2A1_000695" "g.48371881C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.3023G>T:p.(Gly1008Val)" "" "De novo" "" "" "0" "" "" "g.47978098C>A" "" "likely pathogenic (dominant)" "" "0000729880" "0" "90" "12" "48370937" "48370937" "subst" "0" "00000" "COL2A1_000693" "g.48370937C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.3275G>A:p.(Gly1092Asp)" "" "De novo" "" "" "0" "" "" "g.47977154C>T" "" "likely pathogenic (dominant)" "" "0000729881" "0" "90" "12" "48370603" "48370603" "subst" "0" "00000" "COL2A1_000002" "g.48370603C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.3427G>A:p.(Gly1143Ser)" "" "De novo" "" "" "0" "" "" "g.47976820C>T" "" "pathogenic (dominant)" "" "0000729882" "0" "90" "12" "48383569" "48383569" "subst" "0" "00000" "COL2A1_000702" "g.48383569C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.1043G>A:p.(Gly348Asp)" "" "De novo" "" "" "0" "" "" "g.47989786C>T" "" "likely pathogenic (dominant)" "" "0000729883" "1" "90" "12" "48372457" "48372457" "subst" "0" "00000" "COL2A1_000479" "g.48372457G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001844.4:c.2818C>T:p.(Arg940*)" "" "Germline" "" "" "0" "" "" "g.47978674G>A" "" "pathogenic (dominant)" "" "0000733016" "0" "70" "12" "48375892" "48375892" "subst" "0" "00000" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.47982109G>A" "" "likely pathogenic" "" "0000733017" "0" "70" "12" "48393736" "48393736" "subst" "0" "00000" "COL2A1_000084" "g.48393736G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.47999953G>T" "" "likely pathogenic" "" "0000733018" "0" "70" "12" "48393879" "48393879" "subst" "0" "00000" "COL2A1_000491" "g.48393879G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.48000096G>A" "" "likely pathogenic" "" "0000760618" "0" "70" "12" "48377166" "48377166" "subst" "0" "01396" "COL2A1_000712" "g.48377166A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47983383A>G" "" "likely pathogenic" "" "0000760621" "0" "70" "12" "48387611" "48387611" "subst" "0" "01396" "COL2A1_000024" "g.48387611G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000760622" "0" "70" "12" "48387824" "48387824" "subst" "0" "01396" "COL2A1_000027" "g.48387824G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000760624" "0" "70" "12" "48374353" "48374353" "subst" "0" "01396" "COL2A1_000676" "g.48374353C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000760625" "0" "70" "12" "48379729" "48379729" "subst" "0" "01396" "COL2A1_000714" "g.48379729C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760626" "0" "70" "12" "48376919" "48376919" "subst" "0" "01396" "COL2A1_000711" "g.48376919C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760627" "0" "70" "12" "48380958" "48380958" "subst" "0" "01396" "COL2A1_000716" "g.48380958C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760629" "0" "70" "12" "48372468" "48372468" "subst" "0" "01396" "COL2A1_000114" "g.48372468C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000760631" "0" "70" "12" "48376329" "48376329" "subst" "0" "01396" "COL2A1_000710" "g.48376329C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760632" "0" "70" "12" "48380661" "48380663" "del" "0" "01396" "COL2A1_000715" "g.48380661_48380663del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47986878_47986880del" "" "likely pathogenic" "" "0000760634" "0" "70" "12" "48377501" "48377501" "subst" "0" "01396" "COL2A1_000713" "g.48377501C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760636" "0" "70" "12" "48370892" "48370892" "subst" "0" "01396" "COL2A1_000709" "g.48370892C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760639" "0" "70" "12" "48367300" "48367301" "del" "0" "01396" "COL2A1_000708" "g.48367300_48367301del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760641" "0" "70" "12" "48367265" "48367267" "del" "0" "01396" "COL2A1_000681" "g.48367265_48367267del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47973482_47973484del" "" "likely pathogenic" "" "0000765423" "1" "90" "12" "48387820" "48387820" "subst" "0" "00000" "COL2A1_000506" "g.48387820C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.47994037C>T" "" "pathogenic" "" "0000765430" "1" "90" "12" "48378374" "48378381" "dup" "0" "00000" "COL2A1_000509" "g.48378374_48378381dup" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.47984591_47984598dup" "" "pathogenic" "" "0000780175" "0" "50" "12" "48380900" "48380917" "dup" "0" "01164" "COL2A1_000717" "g.48380900_48380917dup" "" "" "" "" "ACMG: PM1, PM4, PM2_SUP" "Germline" "?" "" "0" "" "" "g.47987117_47987134dup" "" "VUS (!)" "ACMG" "0000786641" "0" "70" "12" "48370701" "48370701" "subst" "0" "00006" "COL2A1_000718" "g.48370701C>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47976918C>A" "" "likely pathogenic" "" "0000793804" "0" "70" "12" "48368646" "48368646" "subst" "0" "00000" "COL2A1_000682" "g.48368646C>A" "" "{PMID:Zhou-2011:21677794}" "" "c.3887-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793805" "0" "70" "12" "48371410" "48371410" "del" "0" "00000" "COL2A1_000030" "g.48371410del" "" "{PMID:Zhou-2011:21677794}" "" "c.3138delT" "" "Unknown" "" "rs121912873" "0" "" "" "" "" "likely pathogenic" "" "0000793806" "0" "70" "12" "48371792" "48371792" "subst" "0" "00000" "COL2A1_000480" "g.48371792C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.3111+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793807" "0" "70" "12" "48371798" "48371798" "subst" "4.082E-6" "00000" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.3106C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793808" "0" "70" "12" "48371854" "48371854" "del" "0" "00000" "COL2A1_000683" "g.48371854del" "" "{PMID:Zhou-2011:21677794}" "" "c.3049delG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793809" "0" "70" "12" "48372457" "48372457" "subst" "0" "00000" "COL2A1_000479" "g.48372457G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2818C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793810" "0" "70" "12" "48373317" "48373317" "subst" "0" "00000" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2710C>T" "" "Unknown" "" "rs121912882" "0" "" "" "" "" "likely pathogenic" "" "0000793811" "0" "70" "12" "48375892" "48375892" "subst" "0" "00000" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2353C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793812" "0" "70" "12" "48376673" "48376677" "delins" "0" "00000" "COL2A1_000684" "g.48376673_48376677delinsG" "" "{PMID:Zhou-2011:21677794}" "" "c.2147_2151del5insC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793813" "0" "70" "12" "48377170" "48377170" "subst" "0" "00000" "COL2A1_000685" "g.48377170G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2047C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793814" "0" "70" "12" "48377504" "48377504" "subst" "0" "00000" "COL2A1_000089" "g.48377504G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.1957C>T" "" "Unknown" "" "rs121912893" "0" "" "" "" "" "likely pathogenic" "" "0000793815" "0" "70" "12" "48379358" "48379358" "subst" "0" "00000" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.1693C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793816" "0" "70" "12" "48380652" "48380652" "subst" "0" "00000" "COL2A1_000686" "g.48380652C>A" "" "{PMID:Zhou-2011:21677794}" "" "c.1385G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793817" "0" "70" "12" "48381052" "48381052" "del" "0" "00000" "COL2A1_000687" "g.48381052del" "" "{PMID:Zhou-2011:21677794}" "" "c.1266delT" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793818" "0" "70" "12" "48386698" "48386698" "del" "0" "00000" "COL2A1_000719" "g.48386698delA" "" "{PMID:Zhou-2011:21677794}" "" "c.986delT" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793819" "0" "70" "12" "48390342" "48390342" "subst" "0" "00000" "COL2A1_000689" "g.48390342G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.598C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797411" "11" "70" "12" "48379358" "48379358" "subst" "0" "00000" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Patel 2019:30653986}" "" "c.1693C-->T; p.Arg565Cys" "confirmed with Sanger sequencing; heterozygous" "Germline" "yes" "" "0" "" "" "g.47985575G>A" "" "likely pathogenic" "" "0000805721" "0" "10" "12" "48367327" "48367327" "subst" "0.00096406" "02330" "COL2A1_000393" "g.48367327C>T" "" "" "" "COL2A1(NM_001844.4):c.4327G>A (p.(Gly1443Ser)), COL2A1(NM_001844.5):c.4327G>A (p.G1443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805722" "0" "10" "12" "48369407" "48369407" "subst" "0.00101752" "02330" "COL2A1_000720" "g.48369407A>C" "" "" "" "COL2A1(NM_001844.5):c.3598-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805723" "0" "30" "12" "48369809" "48369809" "subst" "0.000300527" "01943" "COL2A1_000571" "g.48369809A>G" "" "" "" "COL2A1(NM_001844.4):c.3534T>C (p.N1178=), COL2A1(NM_001844.5):c.3534T>C (p.N1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805724" "0" "90" "12" "48370928" "48370928" "subst" "0" "02325" "COL2A1_000721" "g.48370928C>G" "" "" "" "COL2A1(NM_001844.5):c.3284G>C (p.G1095A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805725" "0" "10" "12" "48371802" "48371802" "subst" "0.000970771" "02330" "COL2A1_000722" "g.48371802A>G" "" "" "" "COL2A1(NM_001844.5):c.3102T>C (p.P1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805726" "0" "90" "12" "48372154" "48372154" "subst" "0" "02327" "COL2A1_000723" "g.48372154C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805727" "0" "90" "12" "48372461" "48372461" "del" "0" "01943" "COL2A1_000237" "g.48372461del" "" "" "" "COL2A1(NM_001844.4):c.2814delT (p.G939Afs*89)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805728" "0" "90" "12" "48373817" "48373817" "subst" "0" "02327" "COL2A1_000724" "g.48373817C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805729" "0" "90" "12" "48375134" "48375134" "subst" "0" "02329" "COL2A1_000725" "g.48375134C>A" "" "" "" "COL2A1(NM_001844.5):c.2455G>T (p.G819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805730" "0" "50" "12" "48375185" "48375185" "subst" "0" "01943" "COL2A1_000726" "g.48375185G>T" "" "" "" "COL2A1(NM_001844.4):c.2410-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805731" "0" "30" "12" "48375953" "48375953" "del" "4.06157E-6" "01943" "COL2A1_000727" "g.48375953del" "" "" "" "COL2A1(NM_001844.4):c.2302-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805732" "0" "70" "12" "48379543" "48379543" "subst" "0" "02325" "COL2A1_000360" "g.48379543G>A" "" "" "" "COL2A1(NM_001844.5):c.1648C>T (p.R550C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805733" "0" "70" "12" "48379545" "48379545" "subst" "0" "01943" "COL2A1_000728" "g.48379545C>T" "" "" "" "COL2A1(NM_001844.4):c.1646G>A (p.G549D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805734" "0" "90" "12" "48379594" "48379594" "subst" "0" "01943" "COL2A1_000088" "g.48379594G>A" "" "" "" "COL2A1(NM_001844.4):c.1597C>T (p.R533*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805735" "0" "90" "12" "48380136" "48380136" "subst" "0" "02325" "COL2A1_000121" "g.48380136C>T" "" "" "" "COL2A1(NM_001844.5):c.1510G>A (p.G504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805736" "0" "10" "12" "48380213" "48380213" "subst" "0.000521193" "02330" "COL2A1_000639" "g.48380213G>A" "" "" "" "COL2A1(NM_001844.4):c.1433C>T (p.(Pro478Leu)), COL2A1(NM_001844.5):c.1433C>T (p.P478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805737" "0" "90" "12" "48380869" "48380869" "subst" "0" "02327" "COL2A1_000111" "g.48380869C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805738" "0" "30" "12" "48380926" "48380926" "subst" "0.000556336" "02325" "COL2A1_000351" "g.48380926G>A" "" "" "" "COL2A1(NM_001844.4):c.1300C>T (p.P434S, p.(Pro434Ser)), COL2A1(NM_001844.5):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805739" "0" "10" "12" "48381374" "48381374" "subst" "0.000946353" "02330" "COL2A1_000729" "g.48381374C>G" "" "" "" "COL2A1(NM_001844.5):c.1221+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805740" "0" "50" "12" "48386684" "48386684" "subst" "5.28065E-5" "01943" "COL2A1_000730" "g.48386684G>A" "" "" "" "COL2A1(NM_001844.4):c.1000C>T (p.R334W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805741" "0" "50" "12" "48389689" "48389689" "subst" "0" "02329" "COL2A1_000731" "g.48389689G>A" "" "" "" "COL2A1(NM_001844.5):c.623C>T (p.P208L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805742" "0" "30" "12" "48398011" "48398011" "subst" "0" "01943" "COL2A1_000732" "g.48398011A>G" "" "" "" "COL2A1(NM_001844.4):c.85+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805743" "0" "90" "12" "48398036" "48398036" "subst" "0" "02329" "COL2A1_000733" "g.48398036A>T" "" "" "" "COL2A1(NM_001844.5):c.69T>A (p.C23*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000812533" "0" "90" "12" "48386699" "48386699" "del" "0" "00000" "COL2A1_000688" "g.48386699del" "" "{PMID:Wang 2019:31106028}" "" "c.986del, p.(Pro329Leufs*300)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47992916del" "" "pathogenic" "" "0000812695" "0" "90" "12" "48378777" "48378777" "subst" "0" "00000" "COL2A1_000289" "g.48378777C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1833+1C>T, p.?" "error in annotation: c.1833+1C>T instead of G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.47984994C>T" "" "pathogenic" "" "0000812719" "0" "90" "12" "48369745" "48369745" "subst" "0" "00000" "COL2A1_000610" "g.48369745C>G" "" "{PMID:Wang 2019:31106028}" "" "c.3597+1C>G, p.?" "error in annotation: c.3597+1C>G instead of G>C, heterozygous" "Germline" "?" "" "0" "" "" "g.47975962C>G" "" "pathogenic" "" "0000812820" "0" "70" "12" "48375892" "48375892" "subst" "0" "00000" "COL2A1_000059" "g.48375892G>A" "" "{PMID:Wang 2019:31106028}" "" "c.2353G>A, p.(Arg785*)" "error in annotation: c.2353G>A instead of C>T, heterozygous" "Germline" "?" "" "0" "" "" "g.47982109G>A" "" "likely pathogenic" "" "0000812832" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00000" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3106G>A, p.(Arg1036*)" "error in annotation: c.3106G>A instead of C>T, heterozygous" "Germline" "?" "" "0" "" "" "g.47978015G>A" "" "pathogenic" "" "0000814283" "0" "70" "12" "48371410" "48371410" "del" "0" "00000" "COL2A1_000030" "g.48371410del" "" "{PMID:Chen 2020:31872526}" "" "COL2A1:NM_033150:exon44:c.2931delT:p.P977fs" "different transcript: NM_033150.2(COL2A1):c.2931del, p.P977fs; heterozygous" "Germline" "?" "" "0" "" "" "g.47977627del" "" "likely pathogenic" "" "0000814377" "0" "50" "12" "48368041" "48368041" "subst" "0.000166507" "00000" "COL2A1_000455" "g.48368041G>A" "" "{PMID:Lenassi 2020:31848469}" "" "COL2A1 c.4148C>T p.(Thr1383Met) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47974258G>A" "" "VUS" "ACMG" "0000816128" "0" "90" "12" "48373317" "48373317" "subst" "0" "00000" "COL2A1_000043" "g.48373317G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "COL2A1 c.2710C>T, p.Arg904Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47979534G>A" "" "pathogenic" "" "0000817628" "0" "70" "12" "48376683" "48376683" "subst" "0" "00000" "COL2A1_000734" "g.48376683C>A" "" "{PMID:Zanolli 2020:32141364}" "" "COL2A1 c.2141G>T" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.47982900C>A" "" "likely pathogenic" "" "0000821008" "0" "70" "12" "48393830" "48393831" "del" "0" "00000" "COL2A1_000058" "g.48393830_48393831del" "1/64" "{PMID:Liu 2020:32562694}" "" "COL2A1 c.166_167delGT, p.Val56fs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48000047_48000048del" "" "likely pathogenic" "" "0000821011" "0" "70" "12" "48368571" "48368571" "subst" "8.1211E-6" "00000" "COL2A1_000736" "g.48368571C>T" "1/64" "{PMID:Liu 2020:32562694}" "" "COL2A1 c.3961G>A, p.Glu1321Lys" "heterozygous" "Germline/De novo (untested)" "?" "rs748248022" "0" "" "" "g.47974788C>T" "" "likely pathogenic" "" "0000839645" "11" "70" "12" "48370336" "48370353" "dup" "0" "04264" "COL2A1_000737" "g.48370336_48370353dup" "-" "" "" "3452_3453insGGGTCCTTCTGGAGACCA" "" "Unknown" "no" "" "0" "" "" ".47976553_47976570dup" "" "VUS" "ACGS" "0000841798" "0" "50" "12" "48370605" "48370605" "subst" "0" "03779" "COL2A1_000613" "g.48370605G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1466253134" "0" "" "" "" "" "VUS" "" "0000853401" "0" "50" "12" "48369342" "48369342" "subst" "2.11195E-5" "02325" "COL2A1_000609" "g.48369342C>G" "" "" "" "COL2A1(NM_001844.4):c.3644G>C (p.(Gly1215Ala)), COL2A1(NM_001844.5):c.3644G>C (p.G1215A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853402" "0" "30" "12" "48371428" "48371428" "subst" "4.06881E-6" "01943" "COL2A1_000617" "g.48371428G>A" "" "" "" "COL2A1(NM_001844.4):c.3120C>T (p.P1040=), COL2A1(NM_001844.5):c.3120C>T (p.P1040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853403" "0" "70" "12" "48372469" "48372469" "subst" "4.09008E-6" "02327" "COL2A1_000473" "g.48372469C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853404" "0" "50" "12" "48375136" "48375136" "subst" "0" "01943" "COL2A1_000697" "g.48375136C>G" "" "" "" "COL2A1(NM_001844.4):c.2453G>C (p.R818P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853405" "0" "90" "12" "48379337" "48379337" "subst" "0" "01943" "COL2A1_000178" "g.48379337G>A" "" "" "" "COL2A1(NM_001844.4):c.1714C>T (p.Q572*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862982" "0" "50" "12" "48368039" "48368039" "subst" "4.06105E-6" "02327" "COL2A1_000738" "g.48368039C>T" "" "" "" "COL2A1(NM_001844.4):c.4150G>A (p.(Glu1384Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862983" "0" "50" "12" "48368520" "48368520" "subst" "0" "01804" "COL2A1_000739" "g.48368520T>C" "" "" "" "COL2A1(NM_001844.4):c.4012A>G (p.(Ser1338Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862984" "0" "50" "12" "48368520" "48368520" "subst" "0" "02327" "COL2A1_000739" "g.48368520T>C" "" "" "" "COL2A1(NM_001844.4):c.4012A>G (p.(Ser1338Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862985" "0" "70" "12" "48371837" "48371837" "subst" "0" "01804" "COL2A1_000740" "g.48371837C>G" "" "" "" "COL2A1(NM_001844.4):c.3067G>C (p.(Gly1023Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862986" "0" "30" "12" "48372065" "48372065" "subst" "0.000448493" "01943" "COL2A1_000619" "g.48372065C>T" "" "" "" "COL2A1(NM_001844.4):c.3003+9G>A, COL2A1(NM_001844.5):c.3003+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862987" "0" "30" "12" "48372467" "48372467" "subst" "0" "02330" "COL2A1_000741" "g.48372467G>C" "" "" "" "COL2A1(NM_001844.5):c.2808C>G (p.G936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862988" "0" "30" "12" "48374388" "48374388" "subst" "0.00230571" "02330" "COL2A1_000136" "g.48374388G>A" "" "" "" "COL2A1(NM_001844.4):c.2574C>T (p.G858=), COL2A1(NM_001844.5):c.2574C>T (p.G858=, p.(Gly858=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862989" "0" "30" "12" "48374731" "48374731" "subst" "0.0024561" "01804" "COL2A1_000625" "g.48374731C>G" "" "" "" "COL2A1(NM_001844.4):c.2484G>C (p.(Gly828=)), COL2A1(NM_001844.5):c.2484G>C (p.G828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862990" "0" "10" "12" "48379731" "48379731" "subst" "0.00943624" "01804" "COL2A1_000587" "g.48379731G>T" "" "" "" "COL2A1(NM_001844.4):c.1545C>A (p.(Arg515=)), COL2A1(NM_001844.5):c.1545C>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862991" "0" "50" "12" "48388218" "48388218" "subst" "0" "01804" "COL2A1_000742" "g.48388218G>A" "" "" "" "COL2A1(NM_001844.4):c.805C>T (p.(Pro269Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862992" "0" "50" "12" "48388218" "48388218" "subst" "0" "02327" "COL2A1_000742" "g.48388218G>A" "" "" "" "COL2A1(NM_001844.4):c.805C>T (p.(Pro269Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862993" "0" "50" "12" "48391970" "48391970" "subst" "0" "01804" "COL2A1_000743" "g.48391970T>A" "" "" "" "COL2A1(NM_001844.4):c.324A>T (p.(Glu108Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862994" "0" "30" "12" "48393781" "48393781" "subst" "0.00624203" "01804" "COL2A1_000566" "g.48393781G>A" "" "" "" "COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=)), COL2A1(NM_001844.5):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869087" "0" "70" "12" "48367218" "48367218" "subst" "4.06058E-6" "00006" "COL2A1_000690" "g.48367218A>G" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.47973435A>G" "" "likely pathogenic (recessive)" "" "0000878062" "10" "90" "12" "48393882" "48393882" "del" "0" "02544" "COL2A1_000755" "g.48393882del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48000099del" "" "pathogenic" "" "0000878078" "0" "70" "12" "48377922" "48377922" "subst" "0" "02544" "COL2A1_000749" "g.48377922C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47984139C>A" "" "likely pathogenic" "" "0000878093" "0" "90" "12" "48375889" "48375889" "subst" "0" "02544" "COL2A1_000746" "g.48375889C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47982106C>G" "" "pathogenic" "" "0000878095" "10" "50" "12" "48368087" "48368087" "subst" "3.25174E-5" "02544" "COL2A1_000745" "g.48368087G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47974304G>A" "" "VUS" "" "0000878105" "0" "70" "12" "48376338" "48376338" "subst" "0" "02544" "COL2A1_000747" "g.48376338C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47982555C>T" "" "likely pathogenic" "" "0000878111" "0" "50" "12" "48391402" "48391402" "subst" "1.64629E-5" "02544" "COL2A1_000753" "g.48391402G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47997619G>C" "" "VUS" "" "0000878115" "0" "90" "12" "48377504" "48377504" "subst" "0" "02544" "COL2A1_000089" "g.48377504G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47983721G>A" "" "pathogenic" "" "0000878118" "20" "50" "12" "48389038" "48389038" "subst" "4.06098E-6" "02544" "COL2A1_000751" "g.48389038A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47995255A>T" "" "VUS" "" "0000878125" "0" "50" "12" "48389075" "48389075" "subst" "4.06111E-6" "02544" "COL2A1_000752" "g.48389075C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47995292C>T" "" "VUS" "" "0000878134" "10" "90" "12" "48381483" "48381483" "del" "0" "02544" "COL2A1_000750" "g.48381483del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47987700del" "" "pathogenic" "" "0000878184" "0" "90" "12" "48391817" "48391817" "subst" "0" "02544" "COL2A1_000754" "g.48391817G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47998034G>A" "" "pathogenic" "" "0000878207" "0" "90" "12" "48367896" "48367896" "subst" "0" "02544" "COL2A1_000744" "g.48367896G>T" "" "0" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47974113G>T" "" "pathogenic" "" "0000878327" "0" "50" "12" "48376677" "48376677" "subst" "0" "03779" "COL2A1_000748" "g.48376677T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1252045461" "0" "" "" "" "" "VUS" "" "0000881162" "0" "70" "12" "48371412" "48371412" "subst" "0" "02300" "COL2A1_000756" "g.48371412G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "rs751205887" "0" "" "" "g.47977629G>A" "" "likely pathogenic (dominant)" "ACMG" "0000881163" "0" "90" "12" "48369754" "48369754" "subst" "0" "02300" "COL2A1_000006" "g.48369754C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs121912870" "0" "" "" "g.47975971C>T" "" "pathogenic (dominant)" "ACMG" "0000881275" "0" "90" "12" "48386659" "48386659" "subst" "0" "02300" "COL2A1_000757" "g.48386659A>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.47992876A>T" "" "pathogenic (dominant)" "ACMG" "0000890564" "0" "30" "12" "48367303" "48367303" "subst" "4.07362E-6" "02327" "COL2A1_000658" "g.48367303C>T" "" "" "" "COL2A1(NM_001844.4):c.4351G>A (p.E1451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890565" "0" "50" "12" "48368041" "48368041" "subst" "0.000166507" "02327" "COL2A1_000455" "g.48368041G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890566" "0" "50" "12" "48369801" "48369801" "subst" "0" "02327" "COL2A1_000758" "g.48369801G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890567" "0" "50" "12" "48371798" "48371798" "subst" "3.2656E-5" "02327" "COL2A1_000574" "g.48371798G>C" "" "" "" "COL2A1(NM_001844.4):c.3106C>G (p.R1036G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890568" "0" "50" "12" "48374414" "48374414" "subst" "0" "01804" "COL2A1_000759" "g.48374414C>T" "" "" "" "COL2A1(NM_001844.4):c.2548G>A (p.(Glu850Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890569" "0" "50" "12" "48374717" "48374717" "subst" "3.97973E-5" "01804" "COL2A1_000760" "g.48374717G>A" "" "" "" "COL2A1(NM_001844.4):c.2498C>T (p.(Ala833Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890570" "0" "90" "12" "48375888" "48375888" "subst" "0" "02325" "COL2A1_000761" "g.48375888A>C" "" "" "" "COL2A1(NM_001844.5):c.2355+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890571" "0" "30" "12" "48376733" "48376733" "subst" "0.00184002" "02330" "COL2A1_000629" "g.48376733C>T" "" "" "" "COL2A1(NM_001844.4):c.2095-4G>A, COL2A1(NM_001844.5):c.2095-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890572" "0" "70" "12" "48379358" "48379358" "subst" "0" "02327" "COL2A1_000079" "g.48379358G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890573" "0" "10" "12" "48379494" "48379494" "subst" "0.00326899" "02329" "COL2A1_000555" "g.48379494G>A" "" "" "" "COL2A1(NM_001844.5):c.1680+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890574" "0" "50" "12" "48379513" "48379513" "subst" "4.0784E-6" "02327" "COL2A1_000762" "g.48379513G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890575" "0" "70" "12" "48380617" "48380617" "subst" "0" "02329" "COL2A1_000763" "g.48380617C>T" "" "" "" "COL2A1(NM_001844.5):c.1419+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890576" "0" "10" "12" "48381033" "48381033" "del" "0.0012672" "02329" "COL2A1_000764" "g.48381033del" "" "" "" "COL2A1(NM_001844.5):c.1266+19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890577" "0" "90" "12" "48389037" "48389037" "del" "0" "02329" "COL2A1_000765" "g.48389037del" "" "" "" "COL2A1(NM_001844.5):c.762+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890578" "0" "50" "12" "48393747" "48393747" "subst" "2.03049E-5" "02327" "COL2A1_000766" "g.48393747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890579" "0" "50" "12" "48398089" "48398089" "subst" "0" "02330" "COL2A1_000767" "g.48398089C>T" "" "" "" "COL2A1(NM_001844.5):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909815" "0" "70" "12" "48377171" "48377171" "del" "0" "03779" "COL2A1_000768" "g.48377171del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000913846" "0" "30" "12" "48369782" "48369782" "subst" "0.000357375" "02330" "COL2A1_000769" "g.48369782A>C" "" "" "" "COL2A1(NM_001844.5):c.3561T>G (p.P1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913847" "0" "70" "12" "48371882" "48371882" "subst" "0" "02327" "COL2A1_000770" "g.48371882C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913848" "0" "50" "12" "48375591" "48375591" "subst" "0" "02327" "COL2A1_000771" "g.48375591G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913849" "0" "70" "12" "48377499" "48377499" "subst" "0" "02329" "COL2A1_000173" "g.48377499G>A" "" "" "" "COL2A1(NM_001844.5):c.1962C>T (p.G654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913850" "0" "90" "12" "48379555" "48379555" "subst" "0" "02327" "COL2A1_000425" "g.48379555C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913851" "0" "30" "12" "48389643" "48389643" "subst" "0" "02329" "COL2A1_000772" "g.48389643A>T" "" "" "" "COL2A1(NM_001844.5):c.654+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913852" "0" "90" "12" "48391410" "48391410" "del" "0" "02325" "COL2A1_000460" "g.48391410del" "" "" "" "COL2A1(NM_001844.5):c.510delT (p.G171Vfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913853" "0" "50" "12" "48393722" "48393722" "subst" "0" "02327" "COL2A1_000773" "g.48393722G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913854" "0" "50" "12" "48393853" "48393853" "subst" "0" "01804" "COL2A1_000774" "g.48393853C>A" "" "" "" "COL2A1(NM_001844.4):c.141G>T (p.(Trp47Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918861" "20" "30" "12" "48374717" "48374717" "subst" "3.97973E-5" "04136" "COL2A1_000760" "g.48374717G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47980934G>A" "" "likely benign" "" "0000918862" "0" "90" "12" "48398104" "48398104" "subst" "0" "04136" "COL2A1_000231" "g.48398104T>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.48004321T>C" "" "pathogenic" "" "0000918864" "0" "90" "12" "48372493" "48372493" "del" "0" "04136" "COL2A1_000776" "g.48372493del" "" "Leone 2023, submitted" "" "2784delC" "" "De novo" "" "" "0" "" "" "g.47978710del" "" "pathogenic" "" "0000918865" "0" "90" "12" "48374369" "48374369" "del" "0" "04136" "COL2A1_000777" "g.48374369del" "" "Leone 2023, submitted" "" "2594delC" "" "Germline" "" "" "0" "" "" "g.47980586del" "" "pathogenic" "" "0000918875" "0" "50" "12" "48391694" "48391694" "subst" "0" "04136" "COL2A1_000779" "g.48391694T>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47997911T>C" "" "VUS" "" "0000918880" "0" "50" "12" "48370926" "48370926" "subst" "4.2193E-6" "04136" "COL2A1_000775" "g.48370926G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47977143G>A" "" "VUS" "" "0000918909" "0" "50" "12" "48380148" "48380148" "subst" "0" "04136" "COL2A1_000778" "g.48380148C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47986365C>T" "" "VUS" "" "0000918911" "0" "50" "12" "48380148" "48380148" "subst" "0" "04136" "COL2A1_000778" "g.48380148C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47986365C>T" "" "VUS" "" "0000922203" "0" "50" "12" "48370926" "48370926" "subst" "4.2193E-6" "03779" "COL2A1_000775" "g.48370926G>A" "" "" "" "" "" "Unknown" "" "rs761070916" "0" "" "" "" "" "VUS" "" "0000925635" "0" "50" "12" "48376886" "48376886" "subst" "4.08423E-6" "02327" "COL2A1_000780" "g.48376886A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930092" "0" "50" "12" "48369268" "48369268" "subst" "3.66387E-5" "02327" "COL2A1_000529" "g.48369268G>A" "" "" "" "COL2A1(NM_001844.4):c.3718C>T (p.(Arg1240Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930093" "0" "90" "12" "48372481" "48372481" "subst" "0" "02329" "COL2A1_000005" "g.48372481G>A" "" "" "" "COL2A1(NM_001844.4):c.2794C>T (p.R932*), COL2A1(NM_001844.5):c.2794C>T (p.R932*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930094" "0" "90" "12" "48373337" "48373337" "subst" "0" "02325" "COL2A1_000781" "g.48373337C>T" "" "" "" "COL2A1(NM_001844.5):c.2690G>A (p.G897E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930095" "0" "90" "12" "48375885" "48375885" "subst" "0" "02327" "COL2A1_000294" "g.48375885C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930096" "0" "90" "12" "48391428" "48391428" "del" "0" "02329" "COL2A1_000156" "g.48391428del" "" "" "" "COL2A1(NM_001844.5):c.492delT (p.G165Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000939821" "0" "90" "12" "48370332" "48370332" "subst" "0" "00006" "COL2A1_000782" "g.48370332C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.47976549C>G" "" "pathogenic (dominant)" "" "0000943893" "0" "90" "12" "48379984" "48379984" "subst" "0" "03779" "COL2A1_000317" "g.48379984C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1592218346" "0" "" "" "" "" "pathogenic" "" "0000944358" "0" "70" "12" "48367221" "48367221" "subst" "0" "00006" "COL2A1_000783" "g.48367221C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47973438C>T" "" "likely pathogenic (dominant)" "" "0000949946" "0" "30" "12" "48368085" "48368085" "subst" "0.00492603" "02326" "COL2A1_000532" "g.48368085G>A" "" "" "" "COL2A1(NM_001844.4):c.4104C>T (p.(Pro1368=)), COL2A1(NM_001844.5):c.4104C>T (p.P1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949947" "0" "50" "12" "48369159" "48369159" "subst" "3.24997E-5" "01804" "COL2A1_000784" "g.48369159C>T" "" "" "" "COL2A1(NM_001844.4):c.3827G>A (p.(Arg1276His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949948" "0" "90" "12" "48369769" "48369769" "subst" "0" "02329" "COL2A1_000181" "g.48369769G>A" "" "" "" "COL2A1(NM_001844.5):c.3574C>T (p.R1192*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949949" "0" "30" "12" "48371397" "48371397" "subst" "0.000512212" "02330" "COL2A1_000785" "g.48371397C>T" "" "" "" "COL2A1(NM_001844.5):c.3151G>A (p.A1051T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949950" "0" "90" "12" "48371854" "48371854" "subst" "0" "02325" "COL2A1_000786" "g.48371854C>T" "" "" "" "COL2A1(NM_001844.5):c.3050G>A (p.G1017D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949951" "0" "90" "12" "48372388" "48372388" "subst" "0" "02329" "COL2A1_000662" "g.48372388C>T" "" "" "" "COL2A1(NM_001844.5):c.2887G>A (p.G963S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949952" "0" "30" "12" "48373864" "48373864" "subst" "6.67682E-6" "02330" "COL2A1_000787" "g.48373864G>A" "" "" "" "COL2A1(NM_001844.5):c.2626-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949953" "0" "30" "12" "48376306" "48376306" "subst" "2.05042E-5" "02330" "COL2A1_000582" "g.48376306G>A" "" "" "" "COL2A1(NM_001844.4):c.2280C>T (p.I760=), COL2A1(NM_001844.5):c.2280C>T (p.I760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949954" "0" "50" "12" "48376685" "48376685" "subst" "0" "02330" "COL2A1_000788" "g.48376685C>G" "" "" "" "COL2A1(NM_001844.5):c.2139G>C (p.Q713H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949955" "0" "50" "12" "48380120" "48380120" "subst" "0" "02325" "COL2A1_000789" "g.48380120C>G" "" "" "" "COL2A1(NM_001844.5):c.1526G>C (p.R509T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949956" "0" "90" "12" "48389092" "48389092" "subst" "0" "02327" "COL2A1_000790" "g.48389092C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949957" "0" "50" "12" "48390534" "48390534" "subst" "0" "02329" "COL2A1_000791" "g.48390534A>T" "" "" "" "COL2A1(NM_001844.5):c.532-126T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949958" "0" "30" "12" "48391413" "48391413" "subst" "0.000929276" "02330" "COL2A1_000792" "g.48391413G>A" "" "" "" "COL2A1(NM_001844.5):c.507C>T (p.P169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953673" "0" "90" "12" "48383019" "48383019" "subst" "0" "01411" "COL2A1_000795" "g.48383019C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47989236C>T" "" "pathogenic (dominant)" "" "0000953675" "20" "90" "12" "48377904" "48377904" "subst" "0" "01411" "COL2A1_000796" "g.48377904C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47984121C>T" "" "pathogenic (dominant)" "" "0000953676" "0" "90" "12" "48377519" "48377519" "subst" "0" "01411" "COL2A1_000797" "g.48377519C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47983736C>G" "" "pathogenic (dominant)" "" "0000953677" "0" "90" "12" "48377184" "48377184" "subst" "0" "01411" "COL2A1_000798" "g.48377184C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47983401C>T" "" "pathogenic (dominant)" "" "0000953678" "0" "90" "12" "48375567" "48375567" "subst" "0" "01411" "COL2A1_000336" "g.48375567C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47981784C>T" "" "pathogenic (dominant)" "" "0000953679" "0" "90" "12" "48371891" "48371891" "subst" "0" "01411" "COL2A1_000015" "g.48371891C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47978108C>T" "" "pathogenic (dominant)" "" "0000953680" "0" "90" "12" "48370630" "48370630" "subst" "0" "01411" "COL2A1_000799" "g.48370630C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47976847C>T" "" "pathogenic (dominant)" "" "0000953681" "0" "90" "12" "48369754" "48369754" "subst" "0" "01411" "COL2A1_000006" "g.48369754C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic (dominant)" "" "0000953682" "0" "90" "12" "48369754" "48369754" "subst" "0" "01411" "COL2A1_000006" "g.48369754C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47975971C>T" "" "pathogenic (dominant)" "" "0000953683" "0" "90" "12" "48368042" "48368042" "del" "0" "01411" "COL2A1_000793" "g.48368042del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47974259del" "" "pathogenic (dominant)" "" "0000953684" "0" "90" "12" "48381473" "48381473" "subst" "0" "01411" "COL2A1_000794" "g.48381473C>T" "" "{PMID:Higuchi 2017:28841907}" "" "" "" "De novo" "" "" "0" "" "" "g.47987690C>T" "" "pathogenic (dominant)" "" "0000953837" "0" "70" "12" "48372413" "48372413" "subst" "0" "00006" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47978630G>A" "" "likely pathogenic (dominant)" "" "0000953838" "0" "90" "12" "48373798" "48373798" "dup" "0" "00006" "COL2A1_000201" "g.48373798dup" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47980015dup" "" "pathogenic (dominant)" "" "0000953839" "1" "70" "12" "48370884" "48370884" "subst" "0" "00006" "COL2A1_000804" "g.48370884C>G" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47977101C>G" "" "likely pathogenic (dominant)" "" "0000953840" "1" "90" "12" "48377215" "48377215" "del" "0" "00006" "COL2A1_000807" "g.48377215del" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47983432del" "" "pathogenic (dominant)" "" "0000953841" "1" "90" "12" "48369119" "48369119" "subst" "0" "00006" "COL2A1_000801" "g.48369119G>T" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47975336G>T" "" "pathogenic (dominant)" "" "0000953842" "0" "50" "12" "48368488" "48368488" "subst" "0" "00006" "COL2A1_000800" "g.48368488C>G" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47974705C>G" "" "VUS" "" "0000953845" "0" "50" "12" "48373350" "48373350" "subst" "0" "00006" "COL2A1_000806" "g.48373350G>C" "" "{PMID:Choi 2021:34680973}, {PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.47979567G>C" "" "VUS" "" "0000953846" "0" "70" "12" "48372413" "48372413" "subst" "0" "00006" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47978630G>A" "" "likely pathogenic (dominant)" "" "0000953847" "0" "50" "12" "48371382" "48371382" "subst" "4.06653E-6" "00006" "COL2A1_000805" "g.48371382C>T" "" "{PMID:Choi 2021:34680973}, {PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.47977599C>T" "" "VUS" "" "0000953848" "0" "70" "12" "48387776" "48387776" "subst" "0" "00006" "COL2A1_000315" "g.48387776C>T" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47993993C>T" "" "likely pathogenic (dominant)" "" "0000953849" "0" "90" "12" "48389687" "48389687" "subst" "0" "00006" "COL2A1_000031" "g.48389687G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47995904G>A" "" "pathogenic (dominant)" "" "0000953850" "0" "70" "12" "48369388" "48369388" "subst" "0" "00006" "COL2A1_000802" "g.48369388C>G" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47975605C>G" "" "likely pathogenic (dominant)" "" "0000953851" "0" "70" "12" "48370636" "48370636" "del" "0" "00006" "COL2A1_000803" "g.48370636del" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47976853del" "" "likely pathogenic (dominant)" "" "0000953852" "0" "70" "12" "48378373" "48378373" "del" "0" "00006" "COL2A1_000808" "g.48378373del" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47984590del" "" "likely pathogenic (dominant)" "" "0000953853" "1" "70" "12" "48379358" "48379358" "subst" "0" "00006" "COL2A1_000079" "g.48379358G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47985575G>A" "" "likely pathogenic (dominant)" "" "0000953854" "1" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00006" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic (dominant)" "" "0000953856" "0" "50" "12" "48380153" "48380153" "subst" "0" "00006" "COL2A1_000809" "g.48380153C>T" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47986370C>T" "" "VUS" "" "0000953858" "0" "50" "12" "48389063" "48389063" "subst" "0" "00006" "COL2A1_000811" "g.48389063C>T" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47995280C>T" "" "VUS" "" "0000953859" "0" "90" "12" "48371798" "48371798" "subst" "4.082E-6" "00006" "COL2A1_000149" "g.48371798G>A" "" "{PMID:Choi 2021:34680973}" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>A" "" "pathogenic (dominant)" "" "0000953880" "0" "90" "12" "48383028" "48383028" "subst" "0" "03779" "COL2A1_000810" "g.48383028C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1085307657" "0" "" "" "" "" "pathogenic" "" "0000954958" "1" "50" "12" "48372413" "48372413" "subst" "0" "00006" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.47978630G>A" "" "VUS" "" "0000954959" "1" "50" "12" "48372413" "48372413" "subst" "0" "00006" "COL2A1_000300" "g.48372413G>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.47978630G>A" "" "VUS" "" "0000959336" "0" "50" "12" "48368604" "48368604" "subst" "1.21824E-5" "00006" "COL2A1_000812" "g.48368604C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.47974821C>T" "" "VUS" "ACMG" "0000960091" "0" "90" "12" "48376911" "48376911" "subst" "0" "03779" "COL2A1_000369" "g.48376911C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1939189846" "0" "" "" "" "" "pathogenic" "" "0000966917" "0" "70" "12" "48367249" "48367249" "subst" "0" "02327" "COL2A1_000103" "g.48367249C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966918" "0" "70" "12" "48367954" "48367954" "subst" "0" "02327" "COL2A1_000813" "g.48367954A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966920" "0" "30" "12" "48368393" "48368393" "subst" "0" "02329" "COL2A1_000814" "g.48368393G>C" "" "" "" "COL2A1(NM_001844.5):c.4074+65C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966921" "0" "50" "12" "48372516" "48372516" "subst" "0" "02327" "COL2A1_000815" "g.48372516G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966922" "0" "30" "12" "48376372" "48376372" "subst" "3.29859E-5" "02329" "COL2A1_000816" "g.48376372G>C" "" "" "" "COL2A1(NM_001844.5):c.2214C>G (p.G738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966923" "0" "90" "12" "48376372" "48376372" "del" "0" "02329" "COL2A1_000817" "g.48376372del" "" "" "" "COL2A1(NM_001844.5):c.2219delC (p.P740Lfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966924" "0" "30" "12" "48377171" "48377171" "subst" "0.000410452" "02330" "COL2A1_000818" "g.48377171G>A" "" "" "" "COL2A1(NM_001844.5):c.2046C>T (p.D682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966926" "0" "30" "12" "48380655" "48380655" "subst" "0" "02327" "COL2A1_000819" "g.48380655G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966927" "0" "50" "12" "48387827" "48387827" "subst" "0" "02327" "COL2A1_000820" "g.48387827C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966928" "0" "30" "12" "48388194" "48388194" "subst" "0.000122041" "02327" "COL2A1_000821" "g.48388194C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966929" "0" "30" "12" "48389099" "48389099" "subst" "0.000223363" "02330" "COL2A1_000822" "g.48389099C>A" "" "" "" "COL2A1(NM_001844.5):c.709-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966930" "0" "50" "12" "48390390" "48390390" "subst" "1.21844E-5" "01804" "COL2A1_000823" "g.48390390C>A" "" "" "" "COL2A1(NM_001844.4):c.550G>T (p.(Ala184Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966931" "0" "70" "12" "48390409" "48390409" "subst" "0" "02327" "COL2A1_000824" "g.48390409C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980267" "0" "50" "12" "48367906" "48367906" "subst" "0" "01804" "COL2A1_000825" "g.48367906C>T" "" "" "" "COL2A1(NM_001844.5):c.4283G>A (p.(Arg1428Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980268" "0" "30" "12" "48368040" "48368040" "subst" "2.43663E-5" "01804" "COL2A1_000826" "g.48368040C>T" "" "" "" "COL2A1(NM_001844.5):c.4149G>A (p.(Thr1383=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980269" "0" "30" "12" "48368464" "48368464" "subst" "0.0200404" "01804" "COL2A1_000534" "g.48368464G>A" "" "" "" "COL2A1(NM_001844.5):c.4068C>T (p.(Gly1356=), p.G1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980270" "0" "30" "12" "48369267" "48369267" "subst" "6.51031E-5" "01804" "COL2A1_000827" "g.48369267C>T" "" "" "" "COL2A1(NM_001844.5):c.3719G>A (p.(Arg1240Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980271" "0" "30" "12" "48369303" "48369303" "subst" "2.05892E-5" "01804" "COL2A1_000828" "g.48369303G>C" "" "" "" "COL2A1(NM_001844.5):c.3683C>G (p.(Pro1228Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980272" "0" "50" "12" "48369818" "48369818" "subst" "0" "01804" "COL2A1_000829" "g.48369818A>T" "" "" "" "COL2A1(NM_001844.5):c.3525T>A (p.(Asp1175Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980273" "0" "50" "12" "48373314" "48373314" "subst" "8.12493E-6" "01804" "COL2A1_000830" "g.48373314C>T" "" "" "" "COL2A1(NM_001844.5):c.2713G>A (p.(Val905Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980274" "0" "50" "12" "48373792" "48373792" "subst" "7.17323E-5" "01804" "COL2A1_000831" "g.48373792C>G" "" "" "" "COL2A1(NM_001844.5):c.2679G>C (p.(Pro893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980275" "0" "30" "12" "48374388" "48374388" "subst" "0.00230571" "01804" "COL2A1_000136" "g.48374388G>A" "" "" "" "COL2A1(NM_001844.4):c.2574C>T (p.G858=), COL2A1(NM_001844.5):c.2574C>T (p.G858=, p.(Gly858=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980276" "0" "30" "12" "48375911" "48375911" "subst" "0.00278159" "01804" "COL2A1_000546" "g.48375911G>A" "" "" "" "COL2A1(NM_001844.4):c.2334C>T (p.A778=), COL2A1(NM_001844.5):c.2334C>T (p.A778=, p.(Ala778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980277" "0" "50" "12" "48377503" "48377503" "subst" "0" "01804" "COL2A1_000832" "g.48377503C>T" "" "" "" "COL2A1(NM_001844.5):c.1958G>A (p.(Arg653Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980278" "0" "50" "12" "48379525" "48379525" "subst" "0" "01804" "COL2A1_000833" "g.48379525G>A" "" "" "" "COL2A1(NM_001844.5):c.1666C>T (p.(Leu556Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980279" "0" "30" "12" "48387235" "48387235" "subst" "0.000121829" "01804" "COL2A1_000704" "g.48387235A>G" "" "" "" "COL2A1(NM_001844.4):c.969+6T>C, COL2A1(NM_001844.5):c.969+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980280" "0" "90" "12" "48398020" "48398020" "subst" "0" "02327" "COL2A1_000510" "g.48398020G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000989084" "0" "30" "12" "48371417" "48371417" "subst" "4.066E-6" "03779" "COL2A1_000834" "g.48371417C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1229928635" "0" "" "" "" "" "likely benign" "" "0001000039" "0" "50" "12" "48367873" "48367873" "subst" "7.73018E-5" "01804" "COL2A1_000081" "g.48367873G>A" "" "" "" "COL2A1(NM_001844.4):c.4316C>T (p.(Thr1439Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000040" "0" "70" "12" "48367960" "48367960" "subst" "0" "01804" "COL2A1_000835" "g.48367960G>T" "" "" "" "COL2A1(NM_001844.4):c.4229C>A (p.(Ala1410Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000041" "0" "50" "12" "48368039" "48368039" "subst" "4.06105E-6" "01804" "COL2A1_000738" "g.48368039C>T" "" "" "" "COL2A1(NM_001844.4):c.4150G>A (p.(Glu1384Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000042" "0" "30" "12" "48368097" "48368097" "subst" "8.13385E-6" "01804" "COL2A1_000836" "g.48368097G>T" "" "" "" "COL2A1(NM_001844.4):c.4092C>A (p.(Asp1364Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000043" "0" "50" "12" "48369213" "48369213" "subst" "0" "01804" "COL2A1_000837" "g.48369213G>A" "" "" "" "COL2A1(NM_001844.4):c.3773C>T (p.(Thr1258Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000044" "0" "50" "12" "48369230" "48369230" "subst" "0" "01804" "COL2A1_000838" "g.48369230G>C" "" "" "" "COL2A1(NM_001844.4):c.3756C>G (p.(Asp1252Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000045" "0" "50" "12" "48371203" "48371203" "subst" "1.22394E-5" "01804" "COL2A1_000839" "g.48371203C>T" "" "" "" "COL2A1(NM_001844.4):c.3173G>A (p.(Arg1058His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000046" "0" "30" "12" "48371388" "48371388" "subst" "4.06564E-6" "01804" "COL2A1_000840" "g.48371388C>T" "" "" "" "COL2A1(NM_001844.4):c.3160G>A (p.(Val1054Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000047" "0" "90" "12" "48372127" "48372127" "subst" "0" "02329" "COL2A1_000841" "g.48372127C>T" "" "" "" "COL2A1(NM_001844.5):c.2950G>A (p.G984S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000048" "0" "70" "12" "48372450" "48372450" "subst" "0" "01804" "COL2A1_000842" "g.48372450C>A" "" "" "" "COL2A1(NM_001844.4):c.2825G>T (p.(Gly942Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000049" "0" "50" "12" "48372456" "48372456" "subst" "0.000249375" "01804" "COL2A1_000257" "g.48372456C>T" "" "" "" "COL2A1(NM_001844.4):c.2819G>A (p.(Arg940Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000050" "0" "30" "12" "48373352" "48373352" "subst" "0" "01804" "COL2A1_000843" "g.48373352G>A" "" "" "" "COL2A1(NM_001844.4):c.2680-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000051" "0" "50" "12" "48374410" "48374410" "subst" "0" "01804" "COL2A1_000844" "g.48374410T>C" "" "" "" "COL2A1(NM_001844.4):c.2552A>G (p.(Gln851Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000052" "0" "50" "12" "48375937" "48375937" "subst" "4.06101E-6" "01804" "COL2A1_000845" "g.48375937C>T" "" "" "" "COL2A1(NM_001844.4):c.2308G>A (p.(Val770Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000053" "0" "50" "12" "48376704" "48376704" "subst" "4.07206E-6" "01804" "COL2A1_000846" "g.48376704C>T" "" "" "" "COL2A1(NM_001844.4):c.2120G>A (p.(Arg707His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000054" "0" "30" "12" "48377866" "48377866" "subst" "0" "01804" "COL2A1_000847" "g.48377866T>G" "" "" "" "COL2A1(NM_001844.4):c.1941+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000055" "0" "30" "12" "48379512" "48379512" "subst" "0" "01804" "COL2A1_000633" "g.48379512C>T" "" "" "" "COL2A1(NM_001844.4):c.1679G>A (p.R560Q, p.(Arg560Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000056" "0" "30" "12" "48380926" "48380926" "subst" "0.000556336" "01804" "COL2A1_000351" "g.48380926G>A" "" "" "" "COL2A1(NM_001844.4):c.1300C>T (p.P434S, p.(Pro434Ser)), COL2A1(NM_001844.5):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000057" "0" "30" "12" "48383544" "48383544" "subst" "0.000183228" "01804" "COL2A1_000848" "g.48383544C>T" "" "" "" "COL2A1(NM_001844.4):c.1068G>A (p.(Pro356Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000058" "0" "50" "12" "48386707" "48386707" "subst" "0" "01804" "COL2A1_000849" "g.48386707C>T" "" "" "" "COL2A1(NM_001844.4):c.977G>A (p.(Arg326His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000059" "0" "50" "12" "48387639" "48387639" "subst" "0" "01804" "COL2A1_000850" "g.48387639G>T" "" "" "" "COL2A1(NM_001844.4):c.877C>A (p.(Pro293Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000060" "0" "50" "12" "48391474" "48391474" "subst" "3.68883E-5" "01804" "COL2A1_000851" "g.48391474C>T" "" "" "" "COL2A1(NM_001844.4):c.446G>A (p.(Arg149His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000061" "0" "30" "12" "48398040" "48398040" "subst" "0" "01804" "COL2A1_000602" "g.48398040C>T" "" "" "" "COL2A1(NM_001844.4):c.65G>A (p.R22Q, p.(Arg22Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008455" "0" "90" "12" "48372540" "48372540" "subst" "0" "03779" "COL2A1_000377" "g.48372540C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001014975" "0" "50" "12" "48371138" "48371138" "subst" "0" "02327" "COL2A1_000852" "g.48371138C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014976" "0" "90" "12" "48375586" "48375586" "del" "0" "02329" "COL2A1_000195" "g.48375586del" "" "" "" "COL2A1(NM_001844.5):c.2382delT (p.G795Afs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014977" "0" "90" "12" "48380155" "48380158" "dup" "0" "02329" "COL2A1_000853" "g.48380155_48380158dup" "" "" "" "COL2A1(NM_001844.5):c.1489_1492dupCCTG (p.G498Afs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014978" "0" "90" "12" "48389500" "48389500" "subst" "0" "02329" "COL2A1_000854" "g.48389500C>T" "" "" "" "COL2A1(NM_001844.5):c.701G>A (p.G234D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014979" "0" "70" "12" "48389683" "48389683" "subst" "0" "02327" "COL2A1_000598" "g.48389683C>T" "" "" "" "COL2A1(NM_001844.5):c.629G>A (p.G210E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001020220" "3" "70" "12" "48367299" "48367299" "subst" "4.07136E-5" "04787" "COL2A1_000855" "g.48367299T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47973516T>C" "" "VUS" "ACMG" "0001020728" "0" "70" "12" "48380926" "48380926" "subst" "0.000556336" "00006" "COL2A1_000351" "g.48380926G>A" "" "{PMID:Szczałuba 2018:30238967}" "" "" "" "Germline" "" "rs140985224" "0" "" "" "g.47987143G>A" "" "VUS" "" "0001026180" "0" "90" "12" "48369754" "48369754" "subst" "0" "02329" "COL2A1_000006" "g.48369754C>T" "" "" "" "COL2A1(NM_001844.5):c.3589G>A (p.G1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026181" "0" "90" "12" "48372529" "48372529" "dup" "0" "02329" "COL2A1_000060" "g.48372529dup" "" "" "" "COL2A1(NM_001844.5):c.2750dupC (p.G918Wfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026182" "0" "50" "12" "48376327" "48376327" "subst" "4.51097E-5" "02327" "COL2A1_000856" "g.48376327G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026183" "0" "90" "12" "48387599" "48387599" "subst" "0" "02329" "COL2A1_000857" "g.48387599C>T" "" "" "" "COL2A1(NM_001844.5):c.917G>A (p.G306D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039241" "0" "50" "12" "48367900" "48367900" "subst" "6.49862E-5" "01804" "COL2A1_000858" "g.48367900G>A" "" "" "" "COL2A1(NM_001844.5):c.4289C>T (p.(Thr1430Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039242" "0" "50" "12" "48368040" "48368040" "subst" "2.43663E-5" "02327" "COL2A1_000826" "g.48368040C>T" "" "" "" "COL2A1(NM_001844.5):c.4149G>A (p.(Thr1383=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039243" "0" "50" "12" "48369286" "48369286" "subst" "8.17849E-6" "01804" "COL2A1_000859" "g.48369286C>T" "" "" "" "COL2A1(NM_001844.5):c.3700G>A (p.(Asp1234Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039244" "0" "50" "12" "48375163" "48375163" "subst" "0" "01804" "COL2A1_000860" "g.48375163G>A" "" "" "" "COL2A1(NM_001844.5):c.2426C>T (p.(Pro809Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039245" "0" "50" "12" "48389695" "48389695" "subst" "4.06144E-6" "01804" "COL2A1_000861" "g.48389695A>G" "" "" "" "COL2A1(NM_001844.5):c.617T>C (p.(Met206Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039246" "0" "50" "12" "48390411" "48390411" "subst" "4.0626E-6" "02327" "COL2A1_000862" "g.48390411G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046378" "0" "50" "12" "48389695" "48389695" "subst" "4.06144E-6" "02327" "COL2A1_000861" "g.48389695A>G" "" "" "" "COL2A1(NM_001844.5):c.617T>C (p.(Met206Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048173" "1" "70" "12" "48391673" "48391673" "subst" "7.72785E-5" "00006" "COL2A1_000391" "g.48391673C>T" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline" "" "" "0" "" "" "g.47997890C>T" "" "likely pathogenic (recessive)" "" "0001048185" "0" "70" "12" "48371798" "48371798" "subst" "3.2656E-5" "00006" "COL2A1_000574" "g.48371798G>C" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>C" "" "likely pathogenic" "" "0001048191" "2" "70" "12" "48371798" "48371798" "subst" "3.2656E-5" "00006" "COL2A1_000574" "g.48371798G>C" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline" "" "" "0" "" "" "g.47978015G>C" "" "likely pathogenic (recessive)" "" ## 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 COL2A1 ## Count = 1456 "{{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}}" "0000047067" "00005457" "90" "3489" "163" "3597" "2" "c.3489+163_3597+2del" "r.(del)" "p.(Gly1164_Ala1199del)" "49i_50i" "0000047068" "00005457" "90" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Gly1143Ser)" "48" "0000047069" "00005457" "11" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "53" "0000047070" "00005457" "11" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "53" "0000047071" "00005457" "90" "2320" "0" "2320" "0" "c.2320G>A" "r.2320g>a" "p.(Gly774Ser)" "35" "0000047072" "00005457" "90" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(G1053E)" "45" "0000047073" "00005457" "90" "2751" "0" "2751" "0" "c.2751del" "r.(?)" "p.(Gly918ValfsTer110)" "42" "0000047074" "00005457" "90" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932*)" "42" "0000047075" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "50" "0000047076" "00005457" "90" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(R719C)" "33" "0000047077" "00005457" "90" "3978" "0" "3978" "0" "c.3978del" "r.(?)" "p.(Asn1327IlefsTer49)" "52" "0000047078" "00005457" "90" "1475" "0" "1475" "0" "c.1475G>T" "r.(?)" "p.(G492V)" "23" "0000047079" "00005457" "90" "1509" "0" "1510" "0" "c.1509_1510delinsTT" "r.(?)" "p.(Gly504Cys)" "23" "0000047080" "00005457" "90" "2725" "0" "2725" "0" "c.2725G>T" "r.(?)" "p.(G909C)" "41" "0000047081" "00005457" "90" "3283" "0" "3283" "0" "c.3283G>A" "r.(?)" "p.(Gly1095Ser)" "47" "0000047082" "00005457" "90" "1416" "0" "1416" "0" "c.1416del" "r.(?)" "p.(Glu472AspfsTer157)" "22" "0000047083" "00005457" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(G510D)" "24" "0000047084" "00005457" "90" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(G1005S)" "44" "0000047085" "00005457" "90" "2671" "0" "2671" "0" "c.2671G>C" "r.(?)" "p.(Gly891Arg)" "40" "0000047086" "00005457" "90" "3562" "0" "3562" "0" "c.3562G>C" "r.(?)" "p.(G1188R)" "50" "0000047087" "00005457" "90" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(G1176S)" "50" "0000047088" "00005457" "90" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(G969S)" "43" "0000047089" "00005457" "90" "1419" "5" "1419" "5" "c.1419+5G>T" "r.1365_1419del" "p.Glu457_Gly474del" "22i" "0000047090" "00005457" "90" "1420" "-2" "1420" "-2" "c.1420-2A>G" "r.1420_1437del" "p.Pro475_Gly480del" "22i" "0000047091" "00005457" "90" "1420" "0" "1420" "0" "c.1420G>A" "r.spl?" "p.(G474S)" "23" "0000047092" "00005457" "90" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(G303D)" "14" "0000047093" "00005457" "90" "905" "0" "905" "0" "c.905C>T" "r.904_924del" "p.Ala302_Lys308del" "14" "0000047094" "00005457" "90" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(G447S)" "21" "0000047095" "00005457" "90" "2411" "0" "2411" "0" "c.2411G>C" "r.(?)" "p.(G804A)" "37" "0000047096" "00005457" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(R275C)" "13" "0000047097" "00005457" "99" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(G267D)" "12" "0000047098" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(R989C)" "43" "0000047099" "00005457" "90" "3138" "0" "3138" "0" "c.3138del" "r.(?)" "p.(Gly1047AlafsTer83)" "45" "0000047100" "00005457" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209*)" "9" "0000047101" "00005457" "90" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(G354R)" "17" "0000047102" "00005457" "90" "4287" "0" "4291" "0" "c.4287_4291dup" "r.(?)" "p.(Tyr1431Serfs*6)" "53" "0000047103" "00005457" "90" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.(G1113C)" "48" "0000047104" "00005457" "90" "3627" "0" "3644" "0" "c.3627_3644del" "r.(?)" "p.(Pro1211_Pro1216del)" "51" "0000047105" "00005457" "90" "1266" "1" "1266" "1" "c.1266+1del" "r.spl" "p.?" "20i" "0000047106" "00005457" "90" "3050" "0" "3050" "0" "c.3050G>T" "r.(?)" "p.(G1017V)" "44" "0000047107" "00005457" "90" "3328" "0" "3328" "0" "c.3328G>T" "r.(?)" "p.(G1110C)" "48" "0000047108" "00005457" "90" "3427" "0" "3427" "0" "c.3427G>T" "r.(?)" "p.(G1143C)" "48" "0000047109" "00005457" "90" "1734" "5" "1734" "5" "c.1734+5G>A" "r.1582_1734del" "p.Gly579_Asn611del" "26i" "0000047110" "00005457" "90" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(G327D)" "16" "0000047111" "00005457" "90" "1068" "1" "1068" "1" "c.1068+1G>A" "r.spl" "p.Gly342_Pro356del" "17i" "0000047112" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047113" "00005457" "90" "1023" "3" "1023" "6" "c.1023+3_1023+6del" "r.spl" "p.?" "16i" "0000047114" "00005457" "90" "1279" "0" "1296" "0" "c.1279_1296del" "r.(?)" "p.(Ile427_Gly432del)" "21" "0000047115" "00005457" "90" "1419" "3" "1419" "6" "c.1419+3_1419+6del" "r.spl?" "p.?" "22i" "0000047116" "00005457" "90" "817" "-1" "817" "-1" "c.817-1G>A" "r.spl" "p.?" "12i" "0000047117" "00005457" "90" "2626" "-1" "2626" "-1" "c.2626-1G>T" "r.spl" "p.?" "39i" "0000047118" "00005457" "90" "2116" "0" "2116" "0" "c.2116G>T" "r.(?)" "p.(E706*)" "33" "0000047119" "00005457" "90" "2381" "0" "2381" "0" "c.2381del" "r.(?)" "p.(Pro794LeufsTer87)" "36" "0000047120" "00005457" "90" "3624" "0" "3624" "0" "c.3624del" "r.(?)" "p.(Gly1209ValfsTer18)" "51" "0000047121" "00005457" "90" "3957" "0" "3957" "0" "c.3957del" "r.(?)" "p.(Gly1320AlafsTer56)" "52" "0000047122" "00005457" "90" "933" "0" "933" "0" "c.933del" "r.(?)" "p.(Ser311ArgfsTer318)" "15" "0000047123" "00005457" "90" "3517" "0" "3517" "0" "c.3517G>C" "r.(?)" "p.(G1173R)" "50" "0000047124" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.1826_1833del" "p.Ala610*" "26i" "0000047125" "00005457" "90" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Gln443Lysfs*186)" "21" "0000047126" "00005457" "90" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Trp47*)" "2" "0000047127" "00005457" "90" "158" "0" "161" "0" "c.158_161dup" "r.(?)" "p.(Ile54Metfs*6)" "2" "0000047128" "00005457" "90" "166" "0" "167" "0" "c.166_167del" "r.(?)" "p.(Val56Leufs*2)" "2" "0000047129" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000047130" "00005457" "90" "2750" "0" "2750" "0" "c.2750dup" "r.(?)" "p.(Gly918Trpfs*26)" "42" "0000047131" "00005457" "90" "2813" "0" "2813" "0" "c.2813dup" "r.(?)" "p.(Gly939Trpfs*5)" "42" "0000047132" "00005457" "90" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Ser)" "24" "0000047133" "00005457" "90" "2150" "0" "2150" "0" "c.2150G>T" "r.(?)" "p.(Gly717Val)" "33" "0000047134" "00005457" "90" "2312" "0" "2312" "0" "c.2312G>C" "r.(?)" "p.(Gly771Ala)" "35" "0000047135" "00005457" "70" "4169" "0" "4169" "0" "c.4169C>A" "r.(?)" "p.(Thr1390Asn)" "53" "0000047136" "00005457" "90" "2463" "4" "2463" "7" "c.2463+4_2463+7del" "r.spl" "p.?" "37i" "0000047137" "00005457" "99" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(G453D)" "21" "0000047138" "00005457" "99" "1358" "0" "1358" "0" "c.1358G>T" "r.(?)" "p.(G453V)" "21" "0000047139" "00005457" "99" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(G771D)" "35" "0000047140" "00005457" "99" "2338" "0" "2338" "0" "c.2338G>A" "r.(?)" "p.(G780R)" "35" "0000047141" "00005457" "99" "2383" "0" "2383" "0" "c.2383G>C" "r.(?)" "p.(G795R)" "36" "0000047142" "00005457" "99" "2681" "0" "2681" "0" "c.2681G>A" "r.(?)" "p.(G894E)" "41" "0000047143" "00005457" "99" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(G948D)" "42" "0000047144" "00005457" "99" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(G981S)" "43" "0000047145" "00005457" "99" "3194" "0" "3194" "0" "c.3194G>T" "r.(?)" "p.(G1065V)" "46" "0000047146" "00005457" "99" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(G1119R)" "48" "0000047147" "00005457" "97" "2301" "1" "2301" "1" "c.(2301)+1G>A" "r.spl" "p.?" "34i" "0000047148" "00005457" "99" "6063" "0" "6079" "0" "c.(6063_6079)del" "r.(?)" "p.(G1017_V1022del)" "44" "0000047149" "00005457" "90" "905" "0" "906" "0" "c.905_906del" "r.(?)" "p.(Ala302GlyfsTer8)" "14" "0000047150" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047151" "00005457" "90" "1999" "0" "1999" "0" "c.1999C>T" "r.1999c>u" "p.Leu667Phe" "31" "0000047152" "00005457" "90" "4316" "0" "4316" "0" "c.4316C>T" "r.(?)" "p.(T1439M)" "53" "0000047153" "00005457" "90" "171" "0" "172" "0" "c.171_172del" "r.(?)" "p.(Cys57Ter)" "2" "0000047154" "00005457" "90" "3914" "0" "3914" "0" "c.3914G>A" "r.(?)" "p.(G1305D)" "52" "0000047155" "00005457" "90" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(C86*)" "2" "0000047156" "00005457" "90" "2219" "0" "2219" "0" "c.2219dup" "r.(?)" "p.(Gly741Trpfs*29)" "34" "0000047157" "00005457" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "17" "0000047158" "00005457" "90" "1566" "0" "1570" "0" "c.1566_1570del" "r.(?)" "p.(Leu523Argfs*23)" "24" "0000047159" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000047160" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000047161" "00005457" "90" "883" "0" "883" "0" "c.883del" "r.(?)" "p.(Leu295Trpfs*13)" "14" "0000047162" "00005457" "90" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(G462D)" "22" "0000047163" "00005457" "90" "1123" "0" "1123" "0" "c.1123G>C" "r.(spl?)" "p.(G375R)" "19" "0000047164" "00005457" "90" "4172" "0" "4172" "0" "c.4172A>G" "r.(?)" "p.(Y1391C)" "53" "0000047165" "00005457" "90" "4413" "0" "4416" "0" "c.4413_4416del" "r.(?)" "p.(Gly1472ProfsTer9)" "54" "0000047166" "00005457" "90" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(G516D)" "24" "0000047167" "00005457" "90" "1312" "0" "1312" "0" "c.1312G>A" "r.(?)" "p.(G438S)" "21" "0000047168" "00005457" "90" "1430" "0" "1430" "0" "c.1430G>T" "r.(?)" "p.(G477V)" "23" "0000047169" "00005457" "99" "4314" "0" "4314" "0" "c.4314C>A" "r.(?)" "p.(C1438*)" "53" "0000047170" "00005457" "99" "4337" "0" "4337" "0" "c.4337del" "r.(?)" "p.(Gly1446Alafs*25)" "54" "0000047171" "00005457" "90" "744" "0" "744" "0" "c.744del" "r.(?)" "p.(Gly249GlufsTer59)" "11" "0000047172" "00005457" "99" "4335" "0" "4335" "0" "c.4335G>A" "r.(?)" "p.(W1445*)" "54" "0000047173" "00005457" "99" "4342" "0" "4342" "0" "c.4342A>C" "r.(?)" "p.(T1448P)" "54" "0000047174" "00005457" "99" "4405" "0" "4405" "0" "c.4405G>C" "r.(?)" 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"19i" "0000047380" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000047381" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000047382" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047383" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047384" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047385" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047386" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047387" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047388" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047389" "00005457" "90" "1888" "-2" "1888" "-2" "c.1888-2A>G" "r.spl" "p.(Gly630Metfs*53)" "28i" "0000047390" "00005457" "90" "1931" "0" "1931" "0" "c.1931del" "r.(?)" "p.(Pro644Leufs*144)" "29" "0000047391" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000047392" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000047393" "00005457" "90" "2094" "1" "2094" "1" "c.2094+1G>A" "r.spl" "p.?" "32i" "0000047394" "00005457" "90" "2095" "-1" "2095" "-1" "c.2095-1G>A" "r.spl" "p.?" 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"p.(Arg785_Gly786insValAsnGluCysGlyLeuLeuAspCysTrpAlaPheGlySer*15)" "35i" "0000047404" "00005457" "90" "2381" "0" "2381" "0" "c.2381dup" "r.(?)" "p.(Gly795Trpfs*6)" "36" "0000047405" "00005457" "90" "2382" "0" "2382" "0" "c.2382del" "r.(?)" "p.(Gly795Alafs*86)" "36" "0000047406" "00005457" "90" "2517" "2" "2517" "2" "c.2517+2T>G" "r.spl" "p.?" "38i" "0000047407" "00005457" "90" "2518" "-1" "2518" "-1" "c.2518-1G>A" "r.spl" "p.(Gly840Valfs*41)" "38i" "0000047408" "00005457" "90" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887*)" "40" "0000047409" "00005457" "90" "2678" "0" "2678" "0" "c.2678dup" "r.(?)" "p.(Ala895Serfs*49)" "40" "0000047410" "00005457" "90" "2678" "0" "2678" "0" "c.2678del" "r.(?)" "p.(Pro893Argfs*135)" "40" "0000047411" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047412" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047413" "00005457" "90" "2723" "0" "2723" "0" "c.2723dup" "r.(?)" 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"p.(Gly165Valfs*34)" "7" "0000047454" "00005457" "70" "870" "1" "870" "1" "c.870+1G>A" "r.spl" "p.?" "13i" "0000047455" "00005457" "90" "931" "0" "934" "0" "c.931_934del" "r.(?)" "p.(Ser311Valfs*317)" "15" "0000047456" "00005457" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "17" "0000047457" "00005457" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "17" "0000047458" "00005457" "70" "1221" "1" "1221" "1" "c.1221+1G>C" "r.spl" "p.?" "19i" "0000047459" "00005457" "50" "1527" "135" "1527" "135" "c.1527+135G>A" "r.(1527_1528ins234)" "p.(=)" "23i" "0000047460" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000047461" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047462" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047463" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047464" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(Gly609Glyfs*1)" "27i" "0000047465" "00005457" "90" "1888" "-1" "1888" "-1" "c.1888-1G>C" "r.spl" "p.?" "28i" "0000047466" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000047467" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000047468" "00005457" "90" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701*)" "33" "0000047469" "00005457" "90" "2194" "-1" "2194" "-1" "c.2194-1G>A" "r.spl" "p.?" "33i" "0000047470" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000047471" "00005457" "90" "2517" "1" "2517" "1" "c.2517+1G>C" "r.spl" "p.?" "38i" "0000047472" "00005457" "90" "2625" "1" "2625" "1" "c.2625+1G>T" "r.spl" "p.?" "39i" "0000047473" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047474" "00005457" "90" "2813" "0" "2813" "0" "c.2813dup" "r.(?)" "p.(Gly939Trpfs*5)" "42" "0000047475" "00005457" "90" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Gly954Gly)" "42" "0000047476" "00005457" "90" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Gly954Gly)" "42" "0000047477" "00005457" "90" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Gly954Gly)" "42" "0000047478" "00005457" "90" "2896" "-1" "2896" "-1" "c.2896-1G>A" "r.spl?" "p.?" "42i" "0000047479" "00005457" "90" "2974" "0" "3003" "5" "c.2974_3003+5del" "r.(?)" "p.?" "43" "0000047480" "00005457" "90" "3003" "1" "3003" "1" "c.3003+1G>A" "r.spl" "p.?" "43i" "0000047481" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "44" "0000047482" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" 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"p.(Arg275Cys)" "13" "0000047493" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.Arg565Cys" "26" "0000047494" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047495" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000047496" "00005457" "90" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719Cys)" "33" "0000047497" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047498" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000047499" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000047500" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000047501" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000047502" "00005457" "90" "3826" "0" "3826" "0" "c.3826C>T" "r.(?)" "p.(Arg1276Cys)" "51" "0000047503" "00005457" "90" "709" "-2" "709" "-2" "c.709-2A>G" "r.[709_762del, ..]" "p.?" "10i" "0000047504" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047505" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047506" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047507" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047508" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047509" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047510" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047511" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047512" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186*)" "8" "0000047513" "00005457" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" 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"p.(Tyr1298Asn)" "52" "0000047708" "00005457" "90" "905" "0" "905" "0" "c.905C>T" "r.904_924del" "p.Ala302_Lys308del" "14" "0000047709" "00005457" "90" "1023" "2" "1023" "2" "c.1023+2T>G" "r.spl" "p.?" "16i" "0000047710" "00005457" "90" "2050" "-1" "2050" "-1" "c.2050-1G>C" "r.spl" "p.?" "31i" "0000047711" "00005457" "90" "1942" "-2" "1942" "-2" "c.1942-2A>G" "r.spl" "p.?" "29i" "0000047712" "00005457" "11" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "53" "0000047713" "00005457" "11" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "53" "0000062484" "00005457" "10" "4468" "0" "4468" "0" "c.*4C>T" "r.(=)" "p.(=)" "" "0000062485" "00005457" "10" "2679" "73" "2679" "73" "c.2679+73dup" "r.(=)" "p.(=)" "" "0000062486" "00005457" "10" "1366" "-11" "1366" "-11" "c.1366-11C>T" "r.(=)" "p.(=)" "" "0000062487" "00005457" "10" "1528" "-62" "1528" "-62" "c.1528-62C>T" "r.(=)" "p.(=)" "" "0000062488" "00005457" "10" "504" "0" "504" "0" "c.504C>A" "r.(=)" "p.(=)" "" "0000062489" "00005457" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(=)" "p.(=)" "" "0000062490" "00005457" "50" "762" "42" "762" "42" "c.762+42del" "r.(=)" "p.(=)" "" "0000062491" "00005457" "10" "654" "15" "654" "15" "c.654+15T>G" "r.(=)" "p.(=)" "" "0000062492" "00005457" "10" "1680" "40" "1680" "40" "c.1680+40T>C" "r.(=)" "p.(=)" "" "0000062493" "00005457" "10" "2302" "-22" "2302" "-22" "c.2302-22G>A" "r.(=)" "p.(=)" "" "0000062494" "00005457" "10" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "1" "0000062495" "00005457" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ala181Val)" "" "0000062496" "00005457" "10" "1836" "0" "1836" "0" "c.1836T>C" "r.(=)" "p.(=)" "" "0000062497" "00005457" "10" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000062498" "00005457" "10" "1528" "-108" "1528" "-108" "c.1528-108A>G" "r.(=)" "p.(=)" "" "0000062499" "00005457" "10" "1888" "-47" "1888" "-47" "c.1888-47T>C" "r.(=)" "p.(=)" "" "0000062500" "00005457" "10" "2050" "-49" "2050" "-49" "c.2050-49G>T" "r.(=)" "p.(=)" "" "0000062501" "00005457" "10" "2302" "-32" "2302" "-32" "c.2302-32T>C" "r.(=)" "p.(=)" "" "0000062502" "00005457" "50" "2194" "-52" "2194" "-52" "c.2194-52dup" "r.(=)" "p.(=)" "" "0000062503" "00005457" "10" "2295" "0" "2295" "0" "c.2295C>T" "r.(=)" "p.(=)" "" "0000062504" "00005457" "10" "85" "18" "85" "18" "c.85+18C>G" "r.(=)" "p.(=)" "1i" "0000066249" "00005457" "50" "292" "157" "292" "157" "c.292+157C>A" "r.(=)" "p.(=)" "2i" "0000066250" "00005457" "50" "4318" "-196" "4318" "-196" "c.4318-196G>A" "r.(=)" "p.(=)" "" "0000066298" "00005457" "90" "655" "-1" "655" "-1" "c.655-1G>C" "r.spl" "p.?" 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"p.(Gly1179Arg)" "50" "0000066310" "00005457" "90" "3527" "0" "3527" "0" "c.3527G>T" "r.(?)" "p.(Gly1176Val)" "50" "0000066311" "00005457" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "25" "0000066312" "00005457" "90" "611" "0" "611" "0" "c.611G>C" "r.(?)" "p.(Gly204Ala)" "9" "0000066313" "00005457" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Gly393Ser)" "19" "0000066314" "00005457" "90" "2014" "0" "2014" "0" "c.2014G>T" "r.(?)" "p.(Gly672Cys)" "31" "0000066315" "00005457" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Gly213Asp)" "9" "0000066316" "00005457" "90" "4148" "0" "4148" "0" "c.4148C>T" "r.(?)" "p.(Thr1383Met)" "53" "0000066317" "00005457" "90" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Ser)" "27" "0000066318" "00005457" "90" "3257" "0" "3257" "0" "c.3257G>T" "r.(?)" "p.(Gly1086Val)" "46" "0000066319" "00005457" "90" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Gly630Ser)" "29" "0000066320" "00005457" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Cys)" "13" "0000066321" "00005457" "90" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "41" "0000066322" "00005457" "90" "2582" "0" "2582" "0" "c.2582G>T" "r.(?)" "p.(Gly861Val)" "39" "0000066323" "00005457" "90" "1942" "-2" "1942" "-2" "c.1942-2A>G" "r.spl" "p.?" "29i" "0000066324" "00005457" "90" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "14" "0000066325" "00005457" "90" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "14" "0000066326" "00005457" "90" "1023" "1" "1023" "1" "c.1023+1G>T" "r.spl" "p.?" "16i" "0000066327" "00005457" "90" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "50" "0000066328" "00005457" "90" "3328" "0" "3328" "0" "c.3328G>T" "r.(?)" "p.(Gly1110Cys)" "48" "0000066329" "00005457" "90" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Gly1143Ser)" "48" "0000066330" "00005457" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Gly753Asp)" "34" "0000066331" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000066332" "00005457" "90" "3266" "0" "3268" "0" "c.3266_3268del" "r.(?)" "p.(Gly1089del)" "46" "0000066333" "00005457" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209*)" "9" "0000066334" "00005457" "90" "1023" "2" "1023" "2" "c.1023+2T>G" "r.spl" "p.?" "16i" "0000066335" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000066336" "00005457" "90" "4337" "0" "4337" "0" "c.4337del" "r.(?)" "p.(Gly1446Alafs*25)" "54" "0000066337" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066338" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066339" "00005457" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Gly393Ser)" "19" "0000066340" "00005457" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Gly393Ser)" "19" "0000066341" "00005457" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Gly822Ser)" "38" "0000066342" "00005457" "90" "510" "0" "510" "0" "c.510del" "r.(?)" "p.(Gly171Valfs*28)" "7" "0000066343" "00005457" "90" "510" "0" "510" "0" "c.510del" "r.(?)" "p.(Gly171Valfs*28)" "7" "0000066344" "00005457" "90" "1137" "0" "1137" "0" "c.1137dup" "r.(?)" "p.(Thr380Hisfs*7)" "19" "0000066345" "00005457" "90" "2050" "-1" "2050" "-1" "c.2050-1G>C" "r.spl" "p.?" "43i" "0000066346" "00005457" "90" "2050" "-1" "2050" "-1" "c.2050-1G>C" "r.spl" "p.?" "43i" "0000066347" "00005457" "90" "2050" "-1" "2050" "-1" "c.2050-1G>C" "r.spl" "p.?" "43i" "0000066348" "00005457" "90" "3887" "-2" "3887" "-2" "c.3887-2A>G" "r.spl" "p.?" "51i" "0000066349" "00005457" "90" "3887" "-2" "3887" "-2" "c.3887-2A>G" "r.spl" "p.?" "51i" "0000066350" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066351" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066352" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066353" "00005457" "90" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "54" "0000066354" "00005457" "90" "4462" "0" "4462" "0" "c.4462del" "r.(?)" "p.(*1488Lysext*25)" "54" "0000066355" "00005457" "90" "4462" "0" "4462" "0" "c.4462del" "r.(?)" "p.(*1488Lysext*25)" "54" "0000066356" "00005457" "90" "3545" "0" "3545" "0" "c.3545G>A" "r.(?)" "p.(Gly1182Asp)" "50" "0000066357" "00005457" "90" "3545" "0" "3545" "0" "c.3545G>A" "r.(?)" "p.(Gly1182Asp)" "50" "0000066358" "00005457" "90" "3003" "1" "3003" "1" "c.3003+1G>T" "r.spl" "p.?" "43i" "0000066359" "00005457" "90" "3597" "2" "3597" "2" "c.3597+2T>C" "r.spl" "p.?" "50i" "0000066360" "00005457" "90" "1887" "1" "1887" "1" "c.1887+1G>A" "r.spl" "p.?" "28i" "0000066361" "00005457" "90" "1941" "1" "1941" "1" "c.1941+1G>A" "r.spl" "p.?" "29i" "0000066362" "00005457" "90" "2626" "-2" "2626" "-2" "c.2626-2A>G" "r.spl" "p.?" "39i" "0000066363" "00005457" "90" "611" "0" "611" "0" "c.611G>T" "r.(?)" "p.(Gly204Val)" "9" "0000066364" "00005457" "90" "3165" "1" "3165" "1" "c.3165+1G>T" "r.spl" "p.?" "45i" "0000066365" "00005457" "90" "1732" "0" "1732" "0" "c.1732del" "r.(?)" "p.(Ser578Leufs*51)" "26" "0000066366" "00005457" "90" "1732" "0" "1732" "0" "c.1732del" "r.(?)" "p.(Ser578Leufs*51)" "26" "0000066367" "00005457" "90" "1732" "0" "1732" "0" "c.1732del" "r.(?)" "p.(Ser578Leufs*51)" "26" "0000066368" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000066369" "00005457" "90" "1024" "-2" "1024" "-2" "c.1024-2A>C" "r.spl" "p.?" "16i" "0000066370" "00005457" "90" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Ala1222Thr)" "51" "0000066371" "00005457" "90" "906" "0" "924" "9" "c.906_924+9del" "r.spl" "p.?" "14_14i" "0000066372" "00005457" "90" "1076" "0" "1096" "0" "c.1076_1096del" "r.spl?" "p.(Val359_Pro365del)" "18" "0000066373" "00005457" "90" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719Cys)" "33" "0000066374" "00005457" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "25" "0000066375" "00005457" "90" "1069" "-2" "1069" "-2" "c.1069-2A>G" "r.spl" "p.?" "17i" "0000066376" "00005457" "90" "4332" "0" "4332" "0" "c.4332del" "r.(?)" "p.(Lys1444Asnfs*27)" "54" "0000066377" "00005457" "90" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" "16" "0000066378" "00005457" "90" "941" "0" "941" "0" "c.941del" "r.(?)" "p.(Pro314Argfs*315)" "15" "0000066379" "00005457" "90" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Gly1110Ser)" "48" "0000066380" "00005457" "90" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932*)" "42" "0000066381" "00005457" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Cys)" "13" "0000066382" "00005457" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Cys)" "13" "0000066383" "00005457" "90" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887*)" "40" "0000066384" "00005457" "90" "1528" "-2" "1528" "-2" "c.1528-2A>G" "r.spl?" "p.?" "23i" "0000066385" "00005457" "90" "2464" "0" "2464" "0" "c.2464G>T" "r.(?)" "p.(Gly822Cys)" "38" "0000066386" "00005457" "90" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Thr455Met)" "21" "0000066387" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000066388" "00005457" "90" "3274" "-2" "3274" "-2" "c.3274-2A>G" "r.spl" "p.?" "46i" "0000066389" "00005457" "90" "2950" "0" "2950" "0" "c.2950G>C" "r.(?)" "p.(Gly984Arg)" "41" "0000066390" "00005457" "90" "1996" "-1" "1996" "-1" "c.1996-1G>A" "r.spl" "p.?" "30i" "0000066391" "00005457" "90" "1996" "-1" "1996" "-1" "c.1996-1G>A" "r.spl" "p.?" "30i" "0000066392" "00005457" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Cys)" "6" "0000066393" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000066394" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000066395" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000066396" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000066397" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000066803" "00005457" "70" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "9" "0000067065" "00005457" "70" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "9" "0000067066" "00005457" "70" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "9" "0000079034" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000080539" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000080540" "00005457" "50" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000080542" "00005457" "70" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Gly609Asp)" "27" "0000091231" "00005457" "77" "1510" "0" "1510" "0" "c.1510G>A" "r.(1510g>a)" "p.(Gly504Ser)" "23" "0000091270" "00005457" "77" "1835" "0" "1835" "0" "c.1835G>C" "r.(1835g>c)" "p.(Gly612Ala)" "28" "0000130009" "00005457" "70" "926" "0" "926" "0" "c.926G>T" "r.(?)" "p.(Gly309Val)" "" "0000169222" "00005457" "00" "680" "0" "680" "0" "c.680C>A" "r.(?)" "p.(Pro227His)" "" "0000179046" "00005457" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Ser)" "23" "0000179051" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000179052" "00005457" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "25" "0000179053" "00005457" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "25" "0000179054" "00005457" "90" "2723" "0" "2723" "0" "c.2723dup" "r.(?)" "p.(Gly909Argfs*35)" "41" "0000179285" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000179296" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "44" "0000179297" "00005457" "90" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "45" "0000179298" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "50" "0000179299" "00005457" "90" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Gly303Asp)" "14" "0000179308" "00005457" "70" "1873" "0" "1881" "0" "c.1873_1881del" "r.(?)" "p.(Ala625_Gly627del)" "28" "0000179309" "00005457" "70" "2230" "0" "2230" "0" "c.2230G>C" "r.(?)" "p.(Gly744Arg)" "34" "0000179311" "00005457" "70" "2384" "0" "2395" "0" "c.2384_2395del" "r.(?)" "p.(Gly795_Gly798del)" "36" "0000179312" "00005457" "70" "2737" "0" "2739" "0" "c.2737_2739dup" "r.(?)" "p.(Asn913dup)" "42" "0000179313" "00005457" "70" "2806" "0" "2806" "0" "c.2806G>A" "r.(?)" "p.(Gly936Ser)" "42" "0000179314" "00005457" "70" "3490" "-2" "3490" "-2" "c.3490-2A>T" "r.spl?" "p.?" "49i" "0000179315" "00005457" "70" "871" "-1" "871" "-1" "c.871-1G>C" "r.spl?" "p.?" "13i" "0000185935" "00005457" "90" "3996" "0" "3996" "0" "c.3996del" "r.(?)" "p.(Lys1333Argfs*43)" "52" "0000185936" "00005457" "90" "219" "0" "221" "0" "c.219_221delinsGG" "r.(?)" "p.(Asp74Alafs*43)" "2" "0000185937" "00005457" "90" "1529" "0" "1529" "0" "c.1529G>C" "r.(?)" "p.(Gly510Ala)" "24" "0000185938" "00005457" "90" "2059" "0" "2059" "0" "c.2059G>C" "r.(?)" "p.(Gly687Arg)" "32" "0000188568" "00005457" "90" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940*)" "42" "0000188569" "00005457" "90" "3111" "1" "3111" "1" "c.3111+1G>A" "r.spl?" "p.?" "44i" "0000193756" "00005457" "90" "2356" "-2" "2356" "-2" "c.2356-2A>G" "r.spl?" "p.?" "35i" "0000193757" "00005457" "90" "166" "0" "167" "0" "c.166_167del" "r.(?)" "p.(Val56Leufs*2)" "2" "0000193758" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27i" "0000193759" "00005457" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Gly801Ser)" "36" "0000193760" "00005457" "90" "2825" "0" "2825" "0" "c.2825del" "r.(?)" "p.(Gly942Valfs*86)" "42" "0000193761" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27i" "0000193762" "00005457" "70" "3553" "0" "3553" "0" "c.3553G>A" "r.(?)" "p.(Gly1185Arg)" "50" "0000193763" "00005457" "90" "219" "0" "221" "0" "c.219_221delinsGG" "r.(?)" "p.(Asp74Alafs*43)" "2" "0000193764" "00005457" "90" "671" "0" "672" "0" "c.671_672insT" "r.(?)" "p.(Gln224Hisfs*6)" "10" "0000193765" "00005457" "70" "1510" "0" "1510" "0" "c.1510G>C" "r.(?)" "p.(Gly504Arg)" "23" "0000193766" "00005457" "90" "2678" "0" "2678" "0" "c.2678dup" "r.(?)" "p.(Ala895Serfs*49)" "40" "0000193767" "00005457" "90" "2381" "0" "2381" "0" "c.2381dup" "r.(?)" "p.(Gly795Trpfs*6)" "36" "0000193768" "00005457" "90" "3714" "0" "3714" "0" "c.3714C>A" "r.(?)" "p.(Tyr1238*)" "51" "0000193769" "00005457" "90" "695" "0" "703" "0" "c.695_703del" "r.(?)" "p.(Glu232_Gly234del)" "10" "0000193770" "00005457" "50" "3144" "0" "3144" "0" "c.3144A>T" "r.(?)" "p.(Arg1048Ser)" "45" "0000193771" "00005457" "90" "1313" "0" "1313" "0" "c.1313G>T" "r.(?)" "p.(Gly438Val)" "21" "0000193772" "00005457" "70" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Gly810Ser)" "37" "0000193773" "00005457" "90" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "45" "0000193775" "00005457" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "25" "0000193776" "00005457" "70" "3969" "0" "3969" "0" "c.3969C>G" "r.(?)" "p.(Cys1323Trp)" "52" "0000193777" "00005457" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Gln39*)" "2" "0000193778" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000193779" "00005457" "50" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Arg1058Cys)" "23" "0000193780" "00005457" "70" "4161" "0" "4165" "0" "c.4161_4165del" "r.(?)" "p.(Gln1387Hisfs*30)" "53" "0000193792" "00005457" "90" "237" "0" "237" "0" "c.237del" "r.(?)" "p.(Ile80Serfs*37)" "2" "0000193793" "00005457" "90" "311" "0" "311" "0" "c.311del" "r.(?)" "p.(Gly104Aspfs*13)" "4" "0000193794" "00005457" "70" "762" "5" "762" "5" "c.762+5G>A" "r.spl?" "p.?" "11i" "0000193795" "00005457" "70" "1491" "0" "1527" "11" "c.1491_1527+11del" "r.?" "p.Gly498Trpfs*28" "23" "0000193797" "00005457" "70" "1522" "0" "1522" "0" "c.1522G>T" "r.(?)" "p.(Glu508*)" "23" "0000193798" "00005457" "70" "1527" "4" "1527" "4" "c.1527+4A>T" "r.spl?" "p.?" "23i" "0000193799" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27i" "0000193800" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27" "0000193801" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27i" "0000193802" "00005457" "70" "1963" "0" "1963" "0" "c.1963G>T" "r.(?)" "p.(Glu655*)" "30" "0000193803" "00005457" "70" "1995" "1" "1995" "1" "c.1995+1G>A" "r.spl?" "p.?" "30" "0000193804" "00005457" "70" "2077" "0" "2078" "0" "c.2077_2078del" "r.(?)" "p.(Gly693Profs*7)" "32" "0000193805" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000193806" "00005457" "70" "2539" "0" "2539" "0" "c.2539del" "r.(?)" "p.(Ala847Profs*34)" "39" "0000193807" "00005457" "90" "2813" "0" "2813" "0" "c.2813del" "r.(?)" "p.(Pro938Leufs*90)" "42" "0000193808" "00005457" "90" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940*)" "42" "0000193809" "00005457" "90" "2858" "0" "2858" "0" "c.2858del" "r.(?)" "p.(Pro953Leufs*75)" "42" "0000193810" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "44" "0000193811" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "44" "0000193812" "00005457" "70" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Gly276Asp)" "5" "0000193813" "00005457" "70" "1366" "-1" "1366" "-1" "c.1366-1G>C" "r.spl?" "p.?" "21i" "0000193814" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533*)" "25" "0000193815" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000193816" "00005457" "70" "1783" "0" "1783" "0" "c.1783dup" "r.(?)" "p.(Ala595Glyfs*19)" "27" "0000193818" "00005457" "70" "1836" "0" "1843" "0" "c.1836_1843dup" "r.(?)" "p.(Gly615Valfs*17)" "28" "0000193819" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl?" "p.(Gly609Glyfs*1)" "27i" "0000193820" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000193821" "00005457" "90" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932*)" "42" "0000193872" "00005457" "70" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Gln29*)" "1" "0000193873" "00005457" "70" "3356" "0" "3356" "0" "c.3356del" "r.(?)" "p.(Gly1119Glufs*11)" "48" "0000193874" "00005457" "70" "3401" "0" "3401" "0" "c.3401del" "r.(?)" "p.(Gly1134Alafs*93)" "48" "0000193875" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000193879" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000193880" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000193881" "00005457" "70" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(Gly450Ala)" "21" "0000193882" "00005457" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Gly537Asp)" "25" "0000193883" "00005457" "90" "2725" "0" "2725" "0" "c.2725G>A" "r.(?)" "p.(Gly909Ser)" "41" "0000193884" "00005457" "70" "3446" "0" "3447" "0" "c.3446_3447inv" "r.(?)" "p.(Gly1149Val)" "49" "0000193888" "00005457" "70" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Gly675Asp)" "31" "0000193892" "00005457" "70" "4167" "0" "4167" "0" "c.4167del" "r.(?)" "p.(Thr1390Profs*45)" "53" "0000193893" "00005457" "70" "3248" "0" "3248" "0" "c.3248G>A" "r.(?)" "p.(Gly1083Asp)" "46" "0000193894" "00005457" "70" "2131" "0" "2131" "0" "c.2131G>C" "r.(?)" "p.(Gly711Arg)" "33" "0000193898" "00005457" "70" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Gly561Ser)" "26" "0000193934" "00005457" "70" "1511" "0" "1511" "0" "c.1511G>C" "r.(?)" "p.(Gly504Ala)" "23" "0000193935" "00005457" "90" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "45" "0000193936" "00005457" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "43" "0000193954" "00005457" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Ser)" "23" "0000193955" "00005457" "90" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Gly447Ser)" "21" "0000222085" "00005457" "70" "998" "0" "998" "0" "c.998G>T" "r.(?)" "p.(Gly333Val)" "16" "0000222086" "00005457" "70" "3062" "0" "3079" "0" "c.3062_3079del" "r.(?)" "p.(Pro1021_Gly1026del)" "44" "0000222087" "00005457" "70" "1680" "2" "1680" "2" "c.1680+2T>G" "r.spl" "p.?" "25i" "0000247117" "00005457" "10" "3534" "0" "3534" "0" "c.3534T>C" "r.(?)" "p.(Asn1178=)" "" "0000247118" "00005457" "10" "2241" "0" "2241" "0" "c.2241T>C" "r.(?)" "p.(Gly747=)" "" "0000247165" "00005457" "30" "3659" "0" "3659" "0" "c.3659T>C" "r.(?)" "p.(Met1220Thr)" "" "0000248309" "00005457" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(?)" "p.(Asn800=)" "" "0000248333" "00005457" "10" "654" "15" "654" "15" "c.654+15T>G" "r.(=)" "p.(=)" "" "0000249636" "00005457" "90" "2382" "0" "2382" "0" "c.2382del" "r.(?)" "p.(Gly795AlafsTer86)" "" "0000250044" "00005457" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(?)" "p.(Asn800=)" "" "0000250068" "00005457" "10" "654" "15" "654" "15" "c.654+15T>G" "r.(=)" "p.(=)" "" "0000250118" "00005457" "10" "1836" "0" "1836" "0" "c.1836T>C" "r.(?)" "p.(Gly612=)" "" "0000254435" "00005457" "30" "1287" "0" "1287" "0" "c.1287T>C" "r.(?)" "p.(Gly429=)" "" "0000264770" "00005457" "30" "-13" "0" "-13" "0" "c.-13C>A" "r.(?)" "p.(=)" "" "0000264771" "00005457" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Val359=)" "" "0000264772" "00005457" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Arg392=)" "" "0000264773" "00005457" "30" "1207" "0" "1207" "0" "c.1207C>A" "r.(?)" "p.(Pro403Thr)" "" "0000264774" "00005457" "10" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ser407=)" "" "0000264775" "00005457" "30" "1453" "0" "1453" "0" "c.1453G>T" "r.(?)" "p.(Ala485Ser)" "" "0000264776" "00005457" "10" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Pro49=)" "" "0000264777" "00005457" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "" "0000264778" "00005457" "10" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Thr638Ile)" "" "0000264779" "00005457" "10" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Pro710=)" "" "0000264780" "00005457" "10" "2160" "0" "2160" "0" "c.2160C>A" "r.(?)" "p.(Gly720=)" "" "0000264781" "00005457" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Ala778=)" "" "0000264782" "00005457" "50" "2635" "0" "2635" "0" "c.2635G>A" "r.(?)" "p.(Gly879Arg)" "" "0000264783" "00005457" "10" "2734" "-18" "2734" "-18" "c.2734-18C>T" "r.(=)" "p.(=)" "" "0000264784" "00005457" "10" "3327" "3" "3327" "3" "c.3327+3G>A" "r.spl?" "p.?" "" "0000264785" "00005457" "10" "3490" "-9" "3490" "-9" "c.3490-9C>A" "r.(=)" "p.(=)" "" "0000264786" "00005457" "10" "3597" "17" "3597" "17" "c.3597+17del" "r.(=)" "p.(=)" "" "0000266933" "00005457" "10" "1366" "-11" "1366" "-11" "c.1366-11C>T" "r.(=)" "p.(=)" "" "0000266934" "00005457" "90" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Cys64Ter)" "" "0000266935" "00005457" "10" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000266936" "00005457" "10" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "" "0000266937" "00005457" "90" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Gly945Ser)" "" "0000266938" "00005457" "10" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000266939" "00005457" "10" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Gly168=)" "" "0000266940" "00005457" "90" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Gly210Glu)" "" "0000266941" "00005457" "10" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000266942" "00005457" "10" "85" "18" "85" "18" "c.85+18C>G" "r.(=)" "p.(=)" "" "0000268322" "00005457" "10" "1266" "7" "1266" "7" "c.1266+7G>A" "r.(=)" "p.(=)" "" "0000268323" "00005457" "10" "1366" "-11" "1366" "-11" "c.1366-11C>T" "r.(=)" "p.(=)" "" "0000268324" "00005457" "10" "1545" "0" "1545" "0" "c.1545C>A" "r.(?)" "p.(Arg515=)" "" "0000268325" "00005457" "10" "2094" "7" "2094" "7" "c.2094+7A>G" "r.(=)" "p.(=)" "" "0000268326" "00005457" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000268327" "00005457" "10" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000268328" "00005457" "10" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Ala778=)" "" "0000268329" "00005457" "10" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "" "0000268330" "00005457" "10" "2673" "0" "2673" "0" "c.2673C>G" "r.(?)" "p.(Gly891=)" "" "0000268331" "00005457" "90" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Gly954=)" "" "0000268332" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036Ter)" "" "0000268333" "00005457" "10" "4075" "-14" "4075" "-14" "c.4075-14C>G" "r.(=)" "p.(=)" "" "0000268334" "00005457" "10" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000268335" "00005457" "10" "426" "0" "426" "0" "c.426A>T" "r.(?)" "p.(Glu142Asp)" "" "0000268336" "00005457" "10" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Gly168=)" "" "0000268337" "00005457" "10" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000268338" "00005457" "10" "85" "18" "85" "18" "c.85+18C>G" "r.(=)" "p.(=)" "" "0000273958" "00005457" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ser407=)" "" "0000273959" "00005457" "30" "1266" "7" "1266" "7" "c.1266+7G>A" "r.(=)" "p.(=)" "" "0000273960" "00005457" "10" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Thr638Ile)" "" "0000273961" "00005457" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000273962" "00005457" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Ile760=)" "" "0000273963" "00005457" "30" "2302" "-3" "2302" "-3" "c.2302-3C>T" "r.spl?" "p.?" "" "0000273964" "00005457" "30" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(Asp769=)" "" "0000273965" "00005457" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Ala778=)" "" "0000273966" "00005457" "30" "2946" "0" "2946" "0" "c.2946C>T" "r.(?)" "p.(Ile982=)" "" "0000273967" "00005457" "50" "3106" "0" "3106" "0" "c.3106C>G" "r.(?)" "p.(Arg1036Gly)" "" "0000273968" "00005457" "30" "3736" "0" "3736" "0" "c.3736G>A" "r.(?)" "p.(Gly1246Ser)" "" "0000273969" "00005457" "70" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "" "0000273970" "00005457" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137His)" "" "0000273971" "00005457" "30" "610" "-8" "610" "-8" "c.610-8C>T" "r.(=)" "p.(=)" "" "0000273972" "00005457" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0000273973" "00005457" "50" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Pro268Leu)" "" "0000273974" "00005457" "30" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Pro268=)" "" "0000322769" "00005457" "50" "4327" "0" "4327" "0" "c.4327G>A" "r.(?)" "p.(Gly1443Ser)" "" "0000322770" "00005457" "50" "4325" "0" "4325" "0" "c.4325C>T" "r.(?)" "p.(Thr1442Ile)" "" "0000322771" "00005457" "50" "3842" "0" "3842" "0" "c.3842G>A" "r.(?)" "p.(Arg1281His)" "" "0000322772" "00005457" "50" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240Trp)" "" "0000322773" "00005457" "50" "3316" "0" "3316" "0" "c.3316C>G" "r.(?)" "p.(Arg1106Gly)" "" "0000322774" "00005457" "50" "2355" "1" "2355" "1" "c.2355+1G>A" "r.spl?" "p.?" "" "0000322776" "00005457" "50" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Ser)" "" "0000322777" "00005457" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "" "0000322778" "00005457" "50" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "" "0000322779" "00005457" "50" "1183" "0" "1183" "0" "c.1183C>A" "r.(?)" "p.(Pro395Thr)" "" "0000322780" "00005457" "30" "610" "-7" "610" "-7" "c.610-7G>A" "r.(=)" "p.(=)" "" "0000338276" "00005457" "10" "4600" "0" "4600" "0" "c.*136C>T" "r.(=)" "p.(=)" "" "0000338277" "00005457" "10" "4075" "-14" "4075" "-14" "c.4075-14C>G" "r.(=)" "p.(=)" "" "0000338278" "00005457" "10" "3328" "-20" "3328" "-20" "c.3328-20G>T" "r.(=)" "p.(=)" "" "0000338279" "00005457" "90" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Gly954=)" "" "0000338280" "00005457" "10" "2625" "9" "2625" "9" "c.2625+9C>T" "r.(=)" "p.(=)" "" "0000338281" "00005457" "10" "2094" "7" "2094" "7" "c.2094+7A>G" "r.(=)" "p.(=)" "" "0000338282" "00005457" "10" "1681" "-38" "1681" "-38" "c.1681-38G>A" "r.(=)" "p.(=)" "" "0000338283" "00005457" "10" "1680" "17" "1680" "17" "c.1680+17C>T" "r.(=)" "p.(=)" "" "0000338284" "00005457" "90" "1680" "1" "1680" "1" "c.1680+1G>A" "r.spl?" "p.?" "" "0000338285" "00005457" "10" "1366" "-11" "1366" "-11" "c.1366-11C>T" "r.(=)" "p.(=)" "" "0000338286" "00005457" "10" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000338287" "00005457" "10" "654" "15" "654" "15" "c.654+15T>G" "r.(=)" "p.(=)" "" "0000338288" "00005457" "30" "654" "9" "654" "9" "c.654+9C>A" "r.(=)" "p.(=)" "" "0000338289" "00005457" "10" "85" "18" "85" "18" "c.85+18C>G" "r.(=)" "p.(=)" "" "0000338290" "00005457" "10" "-119" "0" "-119" "0" "c.-119C>T" "r.(?)" "p.(=)" "" "0000339103" "00005457" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Ser)" "" "0000340183" "00005457" "10" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Pro1368=)" "" "0000340184" "00005457" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Gly1356=)" "" "0000340186" "00005457" "10" "3000" "0" "3000" "0" "c.3000G>A" "r.(?)" "p.(Pro1000=)" "" "0000340187" "00005457" "10" "2673" "0" "2673" "0" "c.2673C>G" "r.(?)" "p.(Gly891=)" "" "0000340188" "00005457" "10" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000340189" "00005457" "10" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Gly168=)" "" "0000340190" "00005457" "30" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Ala145=)" "" "0000340191" "00005457" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000340665" "00005457" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Ala778=)" "" "0000341084" "00005457" "10" "1836" "0" "1836" "0" "c.1836T>C" "r.(?)" "p.(Gly612=)" "" "0000341779" "00005457" "50" "3568" "0" "3568" "0" "c.3568C>T" "r.(?)" "p.(Arg1190Cys)" "" "0000342508" "00005457" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Cys)" "" "0000342688" "00005457" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Ter)" "" "0000342818" "00005457" "50" "8" "0" "8" "0" "c.8G>T" "r.(?)" "p.(Arg3Leu)" "" "0000343068" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533Ter)" "" "0000343090" "00005457" "50" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "" "0000343212" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Ter)" "" "0000343471" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "" "0000343802" "00005457" "90" "1830" "0" "1830" "0" "c.1830del" "r.(?)" "p.(Asn611ThrfsTer18)" "" "0000343826" "00005457" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(?)" "p.(Asn800=)" "" "0000344439" "00005457" "90" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Cys64Ter)" "" "0000344959" "00005457" "90" "2244" "0" "2244" "0" "c.2244del" "r.(?)" "p.(Gln749ArgfsTer39)" "" "0000345349" "00005457" "30" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Glu316Gly)" "" "0000345626" "00005457" "90" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "" "0000345637" "00005457" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Arg)" "" "0000345642" "00005457" "50" "3274" "0" "3274" "0" "c.3274G>C" "r.(?)" "p.(Gly1092Arg)" "" "0000345719" "00005457" "10" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000347703" "00005457" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000348131" "00005457" "30" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Pro109Arg)" "" "0000348184" "00005457" "50" "398" "0" "398" "0" "c.398C>A" "r.(?)" "p.(Pro133His)" "" "0000349669" "00005457" "10" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "" "0000350278" "00005457" "10" "3991" "0" "3991" "0" "c.3991G>A" "r.(?)" "p.(Val1331Ile)" "" "0000351230" "00005457" "10" "2094" "12" "2094" "12" "c.2094+12G>C" "r.(=)" "p.(=)" "" "0000351231" "00005457" "90" "1995" "2" "1995" "2" "c.1995+2T>A" "r.spl?" "p.?" "" "0000351232" "00005457" "50" "1267" "-9" "1267" "-9" "c.1267-9T>G" "r.(=)" "p.(=)" "" "0000351233" "00005457" "90" "309" "1" "309" "1" "c.309+1G>A" "r.spl?" "p.?" "" "0000404973" "00005457" "70" "2644" "0" "2644" "0" "c.2644G>T" "r.(?)" "p.(Gly882Cys)" "" "0000405995" "00005457" "90" "166" "0" "167" "0" "c.166_167del" "r.(?)" "p.(Val56Leufs*2)" "" "0000408239" "00005457" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Gly510Asp)" "24" "0000440091" "00005457" "70" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.Gly216Asp" "" "0000548156" "00005457" "10" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Pro1368=)" "" "0000548157" "00005457" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Gly1356=)" "" "0000548158" "00005457" "10" "3991" "0" "3991" "0" "c.3991G>A" "r.(?)" "p.(Val1331Ile)" "" "0000548159" "00005457" "50" "3931" "0" "3931" "0" "c.3931A>G" "r.(?)" "p.(Met1311Val)" "" "0000548160" "00005457" "50" "3887" "-3" "3887" "-3" "c.3887-3C>A" "r.spl?" "p.?" "" "0000548161" "00005457" "10" "3887" "-6" "3887" "-6" "c.3887-6del" "r.(=)" "p.(=)" "" "0000548163" "00005457" "10" "3648" "0" "3648" "0" "c.3648T>C" "r.(?)" "p.(Pro1216=)" "" "0000548164" "00005457" "50" "3644" "0" "3644" "0" "c.3644G>C" "r.(?)" "p.(Gly1215Ala)" "" "0000548165" "00005457" "70" "3597" "1" "3597" "1" "c.3597+1G>C" "r.spl?" "p.?" "" "0000548166" "00005457" "90" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Ter)" "" "0000548167" "00005457" "30" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Val1169=)" "" "0000548168" "00005457" "70" "3435" "5" "3435" "5" "c.3435+5G>A" "r.spl?" "p.?" "" "0000548169" "00005457" "50" "3425" "0" "3425" "0" "c.3425C>A" "r.(?)" "p.(Pro1142His)" "" "0000548170" "00005457" "10" "3328" "-20" "3328" "-20" "c.3328-20G>T" "r.(=)" "p.(=)" "" "0000548171" "00005457" "50" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Gly1107Arg)" "" "0000548172" "00005457" "10" "3276" "0" "3276" "0" "c.3276T>G" "r.(?)" "p.(Gly1092=)" "" "0000548173" "00005457" "10" "3120" "0" "3120" "0" "c.3120C>T" "r.(?)" "p.(Pro1040=)" "" "0000548174" "00005457" "50" "3083" "0" "3083" "0" "c.3083C>T" "r.(?)" "p.(Thr1028Met)" "" "0000548175" "00005457" "10" "3003" "9" "3003" "9" "c.3003+9G>A" "r.(=)" "p.(=)" "" "0000548176" "00005457" "10" "3000" "0" "3000" "0" "c.3000G>A" "r.(?)" "p.(Pro1000=)" "" "0000548177" "00005457" "90" "2895" "1" "2895" "1" "c.2895+1G>A" "r.spl?" "p.?" "" "0000548178" "00005457" "90" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Gly954Ser)" "" "0000548179" "00005457" "30" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Pro944Leu)" "" "0000548180" "00005457" "30" "2680" "-9" "2680" "-9" "c.2680-9C>T" "r.(=)" "p.(=)" "" "0000548181" "00005457" "10" "2625" "9" "2625" "9" "c.2625+9C>T" "r.(=)" "p.(=)" "" "0000548182" "00005457" "50" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Pro868Ser)" "" "0000548183" "00005457" "10" "2484" "0" "2484" "0" "c.2484G>C" "r.(?)" "p.(Gly828=)" "" "0000548184" "00005457" "10" "2464" "-19" "2464" "-19" "c.2464-19A>C" "r.(=)" "p.(=)" "" "0000548185" "00005457" "30" "2356" "-4" "2356" "-4" "c.2356-4G>A" "r.spl?" "p.?" "" "0000548186" "00005457" "30" "2356" "-4" "2356" "-4" "c.2356-4G>A" "r.spl?" "p.?" "" "0000548187" "00005457" "30" "2355" "12" "2355" "12" "c.2355+12C>T" "r.(=)" "p.(=)" "" "0000548188" "00005457" "30" "2302" "-3" "2302" "-3" "c.2302-3C>T" "r.spl?" "p.?" "" "0000548189" "00005457" "10" "2160" "0" "2160" "0" "c.2160C>A" "r.(?)" "p.(Gly720=)" "" "0000548190" "00005457" "30" "2095" "-4" "2095" "-4" "c.2095-4G>A" "r.spl?" "p.?" "" "0000548192" "00005457" "10" "2094" "7" "2094" "7" "c.2094+7A>G" "r.(=)" "p.(=)" "" "0000548193" "00005457" "90" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Ser)" "" "0000548194" "00005457" "30" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Thr638Ile)" "" "0000548195" "00005457" "70" "1879" "0" "1879" "0" "c.1879G>C" "r.(?)" "p.(Gly627Arg)" "" "0000548196" "00005457" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Pro614LeufsTer15)" "" "0000548197" "00005457" "30" "1836" "0" "1836" "0" "c.1836T>C" "r.(?)" "p.(Gly612=)" "" "0000548198" "00005457" "30" "1738" "0" "1738" "0" "c.1738G>T" "r.(?)" "p.(Ala580Ser)" "" "0000548199" "00005457" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0000548200" "00005457" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "" "0000548201" "00005457" "90" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Ser)" "" "0000548202" "00005457" "50" "1527" "6" "1527" "6" "c.1527+6G>A" "r.(=)" "p.(=)" "" "0000548203" "00005457" "50" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Cys)" "" "0000548204" "00005457" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Gln479Ter)" "" "0000548205" "00005457" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Gln479Ter)" "" "0000548206" "00005457" "90" "1376" "0" "1376" "0" "c.1376dup" "r.(?)" "p.(Ile460TyrfsTer7)" "" "0000548207" "00005457" "50" "1327" "0" "1327" "0" "c.1327C>G" "r.(?)" "p.(Gln443Glu)" "" "0000548208" "00005457" "90" "1312" "0" "1312" "0" "c.1312G>A" "r.(?)" "p.(Gly438Ser)" "" "0000548209" "00005457" "70" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Asp)" "" "0000548210" "00005457" "30" "1267" "-4" "1267" "-4" "c.1267-4A>C" "r.spl?" "p.?" "" "0000548211" "00005457" "10" "1266" "7" "1266" "7" "c.1266+7G>A" "r.(=)" "p.(=)" "" "0000548212" "00005457" "90" "1221" "1" "1221" "1" "c.1221+1G>A" "r.spl?" "p.?" "" "0000548213" "00005457" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ser407=)" "" "0000548214" "00005457" "10" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ser407=)" "" "0000548215" "00005457" "50" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Arg383Cys)" "" "0000548216" "00005457" "50" "1138" "0" "1138" "0" "c.1138A>G" "r.(?)" "p.(Thr380Ala)" "" "0000548217" "00005457" "70" "1115" "0" "1115" "0" "c.1115G>A" "r.(?)" "p.(Gly372Glu)" "" "0000548218" "00005457" "10" "1069" "-15" "1069" "-15" "c.1069-15G>A" "r.(=)" "p.(=)" "" "0000548219" "00005457" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Ter)" "" "0000548220" "00005457" "70" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Arg)" "" "0000548221" "00005457" "90" "743" "0" "743" "0" "c.743del" "r.(?)" "p.(Pro248LeufsTer60)" "" "0000548222" "00005457" "10" "708" "8" "708" "8" "c.708+8C>T" "r.(=)" "p.(=)" "" "0000548223" "00005457" "50" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Pro211Leu)" "" "0000548224" "00005457" "10" "610" "-7" "610" "-7" "c.610-7G>A" "r.(=)" "p.(=)" "" "0000548225" "00005457" "10" "606" "0" "606" "0" "c.606A>G" "r.(?)" "p.(Pro202=)" "" "0000548226" "00005457" "50" "508" "0" "508" "0" "c.508C>A" "r.(?)" "p.(Pro170Thr)" "" "0000548227" "00005457" "10" "426" "0" "426" "0" "c.426A>T" "r.(?)" "p.(Glu142Asp)" "" "0000548228" "00005457" "30" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Pro109Arg)" "" "0000548229" "00005457" "50" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Pro49Leu)" "" "0000548230" "00005457" "50" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Val17Phe)" "" "0000614150" "00005457" "30" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Asp1401=)" "" "0000614151" "00005457" "50" "4024" "0" "4024" "0" "c.4024A>G" "r.(?)" "p.(Lys1342Glu)" "" "0000614152" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "" "0000614153" "00005457" "90" "2887" "0" "2887" "0" "c.2887G>A" "r.(?)" "p.(Gly963Ser)" "" "0000614154" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "" "0000614155" "00005457" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Pro872Leu)" "" "0000614156" "00005457" "70" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Gly603Asp)" "" "0000614157" "00005457" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Ser)" "" "0000614158" "00005457" "30" "1420" "-13" "1420" "-13" "c.1420-13T>C" "r.(=)" "p.(=)" "" "0000614159" "00005457" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Pro352=)" "" "0000614160" "00005457" "90" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "" "0000614161" "00005457" "90" "492" "0" "492" "0" "c.492del" "r.(?)" "p.(Gly165ValfsTer34)" "" "0000614162" "00005457" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Phe82=)" "" "0000622892" "00005457" "50" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Glu1451Lys)" "" "0000622893" "00005457" "70" "4166" "0" "4168" "0" "c.4166_4168dup" "r.(?)" "p.(Ile1389dup)" "" "0000622894" "00005457" "30" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Gly858=)" "" "0000622895" "00005457" "90" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Gly831Arg)" "" "0000622896" "00005457" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(?)" "p.(Asn800=)" "" "0000622897" "00005457" "10" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000622898" "00005457" "10" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000622899" "00005457" "10" "654" "15" "654" "15" "c.654+15T>G" "r.(=)" "p.(=)" "" "0000622900" "00005457" "10" "85" "18" "85" "18" "c.85+18C>G" "r.(=)" "p.(=)" "" "0000630877" "00005457" "70" "1682" "0" "1682" "0" "c.1682G>T" "r.(?)" "p.(Gly561Val)" "" "0000648564" "00005457" "50" "4316" "0" "4316" "0" "c.4316C>T" "r.(?)" "p.(Thr1439Met)" "" "0000648565" "00005457" "30" "3991" "0" "3991" "0" "c.3991G>A" "r.(?)" "p.(Val1331Ile)" "" "0000648566" "00005457" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Gln844*)" "" "0000648567" "00005457" "70" "2428" "0" "2428" "0" "c.2428G>T" "r.(?)" "p.(Gly810Cys)" "" "0000648568" "00005457" "90" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(Cys86*)" "" "0000657090" "00005457" "50" "4390" "0" "4390" "0" "c.4390G>A" "r.(?)" "p.(Asp1464Asn)" "" "0000657091" "00005457" "50" "4316" "0" "4316" "0" "c.4316C>T" "r.(?)" "p.(Thr1439Met)" "" "0000657092" "00005457" "90" "3062" "0" "3079" "0" "c.3062_3079del" "r.(?)" "p.(Pro1021_Gly1026del)" "" "0000657093" "00005457" "30" "2673" "0" "2673" "0" "c.2673C>G" "r.(?)" "p.(Gly891=)" "" "0000657095" "00005457" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Cys)" "" "0000657096" "00005457" "70" "1527" "135" "1527" "135" "c.1527+135G>A" "r.(=)" "p.(=)" "" "0000657097" "00005457" "50" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Pro337Ser)" "" "0000660691" "00005457" "70" "1834" "-2" "1834" "-2" "c.1834-2A>T" "r.(?)" "p.(?)" "" "0000665266" "00005457" "90" "1081" "0" "1092" "0" "c.1081_1092delinsGGAC" "r.(?)" "p.(Pro361Glyfs*13)" "" "0000669174" "00005457" "30" "3991" "0" "3991" "0" "c.3991G>A" "r.(?)" "p.(Val1331Ile)" "" "0000679531" "00005457" "90" "2609" "0" "2609" "0" "c.2609G>A" "r.(?)" "p.(Gly870Glu)" "" "0000679532" "00005457" "30" "1996" "-10" "1996" "-10" "c.1996-10C>T" "r.(=)" "p.(=)" "" "0000679533" "00005457" "30" "708" "8" "708" "8" "c.708+8C>T" "r.(=)" "p.(=)" "" "0000679534" "00005457" "30" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Ala184Thr)" "" "0000679535" "00005457" "10" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "" "0000683628" "00005457" "70" "2723" "0" "2723" "0" "c.2723dup" "r.(?)" "p.(Gly909Argfs*35)" "" "0000685163" "00005457" "90" "842" "0" "843" "0" "c.842_843insT" "r.(?)" "p.(Gly282Argfs*18)" "" "0000685164" "00005457" "70" "1527" "135" "1527" "135" "c.1527+135G>A" "r.spl" "p.?" "" "0000691338" "00005457" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Pro1368=)" "" "0000691339" "00005457" "90" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Ter)" "" "0000691340" "00005457" "90" "2481" "0" "2482" "0" "c.2481_2482del" "r.(?)" "p.(Gly828AlafsTer14)" "" "0000691341" "00005457" "90" "1358" "0" "1358" "0" "c.1358G>T" "r.(?)" "p.(Gly453Val)" "" "0000704303" "00005457" "70" "4387" "0" "4389" "0" "c.4387_4389del" "r.(?)" "p.(Ile1463del)" "54" "0000710709" "00005457" "90" "2813" "0" "2813" "0" "c.2813del" "r.(?)" "p.(Pro938Leufs*90)" "" "0000713910" "00005457" "90" "3887" "-1" "3887" "-1" "c.3887-1G>T" "r.spl" "p.?" "" "0000713911" "00005457" "90" "3138" "0" "3138" "0" "c.3138del" "r.(?)" "p.(Gly1047Alafs*83)" "" "0000713912" "00005457" "90" "3111" "1" "3111" "1" "c.3111+1G>A" "r.spl" "p.?" "" "0000713913" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "" "0000713914" "00005457" "90" "3050" "0" "3050" "0" "c.3050del" "r.(?)" "p.(Gly1017Valfs*11)" "" "0000713915" "00005457" "90" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940*)" "" "0000713916" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "" "0000713917" "00005457" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "" "0000713918" "00005457" "90" "2147" "0" "2151" "0" "c.2147_2151delinsC" "r.(?)" "p.(Gln716Profs*71)" "" "0000713919" "00005457" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Gln683*)" "" "0000713920" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "" "0000713921" "00005457" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "" "0000713922" "00005457" "90" "1385" "0" "1385" "0" "c.1385G>T" "r.(?)" "p.(Gly462Val)" "" "0000713923" "00005457" "90" "1266" "0" "1266" "0" "c.1266del" "r.(?)" "p.(Gly423Valfs*206)" "" "0000713924" "00005457" "90" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Pro329Leufs*300)" "" "0000713925" "00005457" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000724038" "00005457" "10" "4468" "0" "4468" "0" "c.*4C>T" "r.(=)" "p.(=)" "" "0000724039" "00005457" "50" "4436" "0" "4436" "0" "c.4436T>C" "r.(?)" "p.(Val1479Ala)" "" "0000724040" "00005457" "50" "4390" "0" "4390" "0" "c.4390G>T" "r.(?)" "p.(Asp1464Tyr)" "" "0000724041" "00005457" "30" "4318" "-90" "4318" "-90" "c.4318-90G>A" "r.(=)" "p.(=)" "" "0000724042" "00005457" "90" "4075" "-1" "4075" "-1" "c.4075-1G>C" "r.spl?" "p.?" "" "0000724043" "00005457" "30" "3736" "0" "3736" "0" "c.3736G>A" "r.(?)" "p.(Gly1246Ser)" "" "0000724044" "00005457" "50" "3241" "0" "3241" "0" "c.3241C>T" "r.(?)" "p.(Pro1081Ser)" "" "0000724045" "00005457" "30" "2949" "0" "2949" "0" "c.2949C>T" "r.(?)" "p.(Val983=)" "" "0000724046" "00005457" "50" "2453" "0" "2453" "0" "c.2453G>C" "r.(?)" "p.(Arg818Pro)" "" "0000724047" "00005457" "90" "2410" "-1" "2410" "-1" "c.2410-1G>A" "r.spl?" "p.?" "" "0000724048" "00005457" "90" "2381" "0" "2381" "0" "c.2381del" "r.(?)" "p.(Pro794Leufs*87)" "" "0000724049" "00005457" "70" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Gly654=)" "" "0000724050" "00005457" "70" "1700" "0" "1700" "0" "c.1700G>T" "r.(?)" "p.(Gly567Val)" "" "0000724051" "00005457" "30" "1634" "0" "1634" "0" "c.1634A>G" "r.(?)" "p.(Asn545Ser)" "" "0000724052" "00005457" "30" "1634" "0" "1634" "0" "c.1634A>G" "r.(?)" "p.(Asn545Ser)" "" "0000724053" "00005457" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000724054" "00005457" "30" "1023" "331" "1023" "331" "c.1023+331T>C" "r.(=)" "p.(=)" "" "0000724055" "00005457" "30" "969" "6" "969" "6" "c.969+6T>C" "r.(=)" "p.(=)" "" "0000724056" "00005457" "30" "792" "0" "792" "0" "c.792T>G" "r.(?)" "p.(Gly264=)" "" "0000724057" "00005457" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Gly213Asp)" "" "0000724058" "00005457" "90" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Gly207Glu)" "" "0000724059" "00005457" "10" "610" "-7" "610" "-7" "c.610-7G>A" "r.(=)" "p.(=)" "" "0000724060" "00005457" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Met)" "" "0000729878" "00005457" "90" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Gln665*)" "" "0000729879" "00005457" "90" "3023" "0" "3023" "0" "c.3023G>T" "r.(?)" "p.(Gly1008Val)" "" "0000729880" "00005457" "90" "3275" "0" "3275" "0" "c.3275G>A" "r.(?)" "p.(Gly1092Asp)" "" "0000729881" "00005457" "90" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Gly1143Ser)" "" "0000729882" "00005457" "90" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Gly348Asp)" "" "0000729883" "00005457" "90" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940*)" "" "0000733016" "00005457" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "" "0000733017" "00005457" "70" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(Cys86*)" "" "0000733018" "00005457" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Gln39*)" "" "0000760618" "00005457" "70" "2049" "2" "2049" "2" "c.2049+2T>C" "r.spl?" "p.?" "" "0000760621" "00005457" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "" "0000760622" "00005457" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Cys)" "" "0000760624" "00005457" "70" "2609" "0" "2609" "0" "c.2609G>A" "r.(?)" "p.(Gly870Glu)" "" "0000760625" "00005457" "70" "1547" "0" "1547" "0" "c.1547G>C" "r.(?)" "p.(Gly516Ala)" "" "0000760626" "00005457" "70" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Gly684Asp)" "" "0000760627" "00005457" "70" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Gly423Asp)" "" "0000760629" "00005457" "70" "2807" "0" "2807" "0" "c.2807G>A" "r.(?)" "p.(Gly936Asp)" "" "0000760631" "00005457" "70" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Gly753Ser)" "" "0000760632" "00005457" "70" "1375" "0" "1377" "0" "c.1375_1377del" "r.(?)" "p.(Gly459del)" "" "0000760634" "00005457" "70" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Gly654Ser)" "" "0000760636" "00005457" "70" "3320" "0" "3320" "0" "c.3320G>A" "r.(?)" "p.(Gly1107Glu)" "" "0000760639" "00005457" "70" "4353" "0" "4354" "0" "c.4353_4354del" "r.(?)" "p.(Tyr1452Profs*12)" "" "0000760641" "00005457" "70" "4387" "0" "4389" "0" "c.4387_4389del" "r.(?)" "p.(Ile1463del)" "" "0000765423" "00005457" "90" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Gly276Asp)" "" "0000765430" "00005457" "90" "1836" "0" "1843" "0" "c.1836_1843dup" "r.(?)" "p.(Gly615ValfsTer17)" "" "0000780175" "00005457" "50" "1310" "0" "1327" "0" "c.1310_1327dup" "r.(?)" "p.(Arg437_Pro442dup)" "" "0000786641" "00005457" "70" "3329" "0" "3329" "0" "c.3329G>T" "r.(?)" "p.(Gly1110Val)" "" "0000793804" "00005457" "70" "3887" "-1" "3887" "-1" "c.3887-1G>T" "r.spl?" "p.?" "51i" "0000793805" "00005457" "70" "3138" "0" "3138" "0" "c.3138del" "r.(?)" "p.(Gly1047Alafs*83)" "45" "0000793806" "00005457" "70" "3111" "1" "3111" "1" "c.3111+1G>A" "r.spl?" "p.?" "44i" "0000793807" "00005457" "70" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "44" "0000793808" "00005457" "70" "3050" "0" "3050" "0" "c.3050del" "r.(?)" "p.(Gly1017Valfs*11)" "44" "0000793809" "00005457" "70" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940*)" "42" "0000793810" "00005457" "70" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "41" "0000793811" "00005457" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "35" "0000793812" "00005457" "70" "2147" "0" "2151" "0" "c.2147_2151delinsC" "r.(?)" "p.(Gln716Profs*71)" "33" "0000793813" "00005457" "70" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Gln683*)" "31" "0000793814" "00005457" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653*)" "30" "0000793815" "00005457" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000793816" "00005457" "70" "1385" "0" "1385" "0" "c.1385G>T" "r.(?)" "p.(Gly462Val)" "22" "0000793817" "00005457" "70" "1266" "0" "1266" "0" "c.1266del" "r.(?)" "p.(Gly423Valfs*206)" "20" "0000793818" "00005457" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "16" "0000793819" "00005457" "70" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "8" "0000797411" "00005457" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "" "0000805721" "00005457" "10" "4327" "0" "4327" "0" "c.4327G>A" "r.(?)" "p.(Gly1443Ser)" "" "0000805722" "00005457" "10" "3598" "-19" "3598" "-19" "c.3598-19T>G" "r.(=)" "p.(=)" "" "0000805723" "00005457" "30" "3534" "0" "3534" "0" "c.3534T>C" "r.(?)" "p.(Asn1178=)" "" "0000805724" "00005457" "90" "3284" "0" "3284" "0" "c.3284G>C" "r.(?)" "p.(Gly1095Ala)" "" "0000805725" "00005457" "10" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Pro1034=)" "" "0000805726" "00005457" "90" "2923" "0" "2923" "0" "c.2923G>A" "r.(?)" "p.(Gly975Ser)" "" "0000805727" "00005457" "90" "2814" "0" "2814" "0" "c.2814del" "r.(?)" "p.(Gly939Alafs*89)" "" "0000805728" "00005457" "90" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Gly885Glu)" "" "0000805729" "00005457" "90" "2455" "0" "2455" "0" "c.2455G>T" "r.(?)" "p.(Gly819Cys)" "" "0000805730" "00005457" "50" "2410" "-6" "2410" "-6" "c.2410-6C>A" "r.(=)" "p.(=)" "" "0000805731" "00005457" "30" "2302" "-10" "2302" "-10" "c.2302-10del" "r.(=)" "p.(=)" "" "0000805732" "00005457" "70" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "" "0000805733" "00005457" "70" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Gly549Asp)" "" "0000805734" "00005457" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533Ter)" "" "0000805735" "00005457" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Ser)" "" "0000805736" "00005457" "10" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "" "0000805737" "00005457" "90" "1357" "0" "1357" "0" "c.1357G>A" "r.(?)" "p.(Gly453Ser)" "" "0000805738" "00005457" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000805739" "00005457" "10" "1221" "20" "1221" "20" "c.1221+20G>C" "r.(=)" "p.(=)" "" "0000805740" "00005457" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Trp)" "" "0000805741" "00005457" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Pro208Leu)" "" "0000805742" "00005457" "30" "85" "9" "85" "9" "c.85+9T>C" "r.(=)" "p.(=)" "" "0000805743" "00005457" "90" "69" "0" "69" "0" "c.69T>A" "r.(?)" "p.(Cys23*)" "" "0000812533" "00005457" "90" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Pro329Leufs*300)" "" "0000812695" "00005457" "90" "1833" "1" "1833" "1" "c.1833+1G>A" "r.spl" "p.(?)" "" "0000812719" "00005457" "90" "3597" "1" "3597" "1" "c.3597+1G>C" "r.spl" "p.(?)" "" "0000812820" "00005457" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "" "0000812832" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "" "0000814283" "00005457" "70" "3138" "0" "3138" "0" "c.3138del" "r.(?)" "p.(Gly1047Alafs*83)" "44" "0000814377" "00005457" "50" "4148" "0" "4148" "0" "c.4148C>T" "r.(?)" "p.(Thr1383Met)" "" "0000816128" "00005457" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Cys)" "" "0000817628" "00005457" "70" "2141" "0" "2141" "0" "c.2141G>T" "r.(?)" "p.(Gly714Val)" "" "0000821008" "00005457" "70" "166" "0" "167" "0" "c.166_167del" "r.(?)" "p.(Val56Leufs*2)" "" "0000821011" "00005457" "70" "3961" "0" "3961" "0" "c.3961G>A" "r.(?)" "p.(Glu1321Lys)" "" "0000839645" "00005457" "70" "3436" "-1" "3452" "0" "c.3436-1_3452dup" "r.spl" "p.(Pro1147_Gly1152dup)" "48i_49" "0000841798" "00005457" "50" "3425" "0" "3425" "0" "c.3425C>A" "r.(?)" "p.(Pro1142His)" "" "0000853401" "00005457" "50" "3644" "0" "3644" "0" "c.3644G>C" "r.(?)" "p.(Gly1215Ala)" "" "0000853402" "00005457" "30" "3120" "0" "3120" "0" "c.3120C>T" "r.(?)" "p.(Pro1040=)" "" "0000853403" "00005457" "70" "2806" "0" "2806" "0" "c.2806G>A" "r.(?)" "p.(Gly936Ser)" "" "0000853404" "00005457" "50" "2453" "0" "2453" "0" "c.2453G>C" "r.(?)" "p.(Arg818Pro)" "" "0000853405" "00005457" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Gln572*)" "" "0000862982" "00005457" "50" "4150" "0" "4150" "0" "c.4150G>A" "r.(?)" "p.(Glu1384Lys)" "" "0000862983" "00005457" "50" "4012" "0" "4012" "0" "c.4012A>G" "r.(?)" "p.(Ser1338Gly)" "" "0000862984" "00005457" "50" "4012" "0" "4012" "0" "c.4012A>G" "r.(?)" "p.(Ser1338Gly)" "" "0000862985" "00005457" "70" "3067" "0" "3067" "0" "c.3067G>C" "r.(?)" "p.(Gly1023Arg)" "" "0000862986" "00005457" "30" "3003" "9" "3003" "9" "c.3003+9G>A" "r.(=)" "p.(=)" "" "0000862987" "00005457" "30" "2808" "0" "2808" "0" "c.2808C>G" "r.(?)" "p.(Gly936=)" "" "0000862988" "00005457" "30" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Gly858=)" "" "0000862989" "00005457" "30" "2484" "0" "2484" "0" "c.2484G>C" "r.(?)" "p.(Gly828=)" "" "0000862990" "00005457" "10" "1545" "0" "1545" "0" "c.1545C>A" "r.(?)" "p.(Arg515=)" "" "0000862991" "00005457" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Pro269Ser)" "" "0000862992" "00005457" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Pro269Ser)" "" "0000862993" "00005457" "50" "324" "0" "324" "0" "c.324A>T" "r.(?)" "p.(Glu108Asp)" "" "0000862994" "00005457" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000869087" "00005457" "70" "4436" "0" "4436" "0" "c.4436T>C" "r.(?)" "p.(Val1479Ala)" "" "0000878062" "00005457" "90" "114" "0" "114" "0" "c.114del" "r.(?)" "p.(Gln39ArgfsTer29)" "2" "0000878078" "00005457" "70" "1889" "0" "1889" "0" "c.1889G>T" "r.(?)" "p.(Gly630Val)" "24" "0000878093" "00005457" "90" "2355" "1" "2355" "1" "c.2355+1G>C" "r.spl" "p.?" "35i" "0000878095" "00005457" "50" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Pro1368Ser)" "53" "0000878105" "00005457" "70" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Gly750Arg)" "34" "0000878111" "00005457" "50" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Pro173Arg)" "7" "0000878115" "00005457" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Ter)" "30" "0000878118" "00005457" "50" "762" "0" "762" "0" "c.762T>A" "r.(?)" "p.(Asp254Glu)" "11" "0000878125" "00005457" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "10" "0000878134" "00005457" "90" "1133" "0" "1133" "0" "c.1133del" "r.(?)" "p.(Gly378AlafsTer251)" "19" "0000878184" "00005457" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125Ter)" "5" "0000878207" "00005457" "90" "4293" "0" "4293" "0" "c.4293C>A" "r.(?)" "p.(Tyr1431Ter)" "53" "0000878327" "00005457" "50" "2147" "0" "2147" "0" "c.2147A>G" "r.(?)" "p.(Gln716Arg)" "" "0000881162" "00005457" "70" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Pro1046Ser)" "" "0000881163" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "" "0000881275" "00005457" "90" "1023" "2" "1023" "2" "c.1023+2T>A" "r.spl" "p.?" "" "0000890564" "00005457" "30" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Glu1451Lys)" "" "0000890565" "00005457" "50" "4148" "0" "4148" "0" "c.4148C>T" "r.(?)" "p.(Thr1383Met)" "" "0000890566" "00005457" "50" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Pro1181Leu)" "" "0000890567" "00005457" "50" "3106" "0" "3106" "0" "c.3106C>G" "r.(?)" "p.(Arg1036Gly)" "" "0000890568" "00005457" "50" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Glu850Lys)" "" "0000890569" "00005457" "50" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Ala833Val)" "" "0000890570" "00005457" "90" "2355" "2" "2355" "2" "c.2355+2T>G" "r.spl?" "p.?" "" "0000890571" "00005457" "30" "2095" "-4" "2095" "-4" "c.2095-4G>A" "r.spl?" "p.?" "" "0000890572" "00005457" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "" "0000890573" "00005457" "10" "1680" "17" "1680" "17" "c.1680+17C>T" "r.(=)" "p.(=)" "" "0000890574" "00005457" "50" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560Trp)" "" "0000890575" "00005457" "70" "1419" "1" "1419" "1" "c.1419+1G>A" "r.spl?" "p.?" "" "0000890576" "00005457" "10" "1266" "19" "1266" "19" "c.1266+19del" "r.(=)" "p.(=)" "" "0000890577" "00005457" "90" "762" "1" "762" "1" "c.762+1del" "r.spl?" "p.?" "" "0000890578" "00005457" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Gly83Arg)" "" "0000890579" "00005457" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000909815" "00005457" "70" "2047" "0" "2047" "0" "c.2047del" "r.(?)" "p.(Gln683ArgfsTer105)" "" "0000913846" "00005457" "30" "3561" "0" "3561" "0" "c.3561T>G" "r.(?)" "p.(Pro1187=)" "" "0000913847" "00005457" "70" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Gly1008Ser)" "" "0000913848" "00005457" "50" "2377" "0" "2377" "0" "c.2377C>A" "r.(?)" "p.(Pro793Thr)" "" "0000913849" "00005457" "70" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Gly654=)" "" "0000913850" "00005457" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "" "0000913851" "00005457" "30" "654" "15" "654" "15" "c.654+15T>A" "r.(=)" "p.(=)" "" "0000913852" "00005457" "90" "510" "0" "510" "0" "c.510del" "r.(?)" "p.(Gly171Valfs*28)" "" "0000913853" "00005457" "50" "272" "0" "272" "0" "c.272C>A" "r.(?)" "p.(Thr91Asn)" "" "0000913854" "00005457" "50" "141" "0" "141" "0" "c.141G>T" "r.(?)" "p.(Trp47Cys)" "" "0000918861" "00005457" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Ala833Val)" "38" "0000918862" "00005457" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000918864" "00005457" "90" "2784" "0" "2784" "0" "c.2784del" "r.(?)" "p.(Gly930ValfsTer98)" "42" "0000918865" "00005457" "90" "2594" "0" "2594" "0" "c.2594del" "r.(?)" "p.(Pro865LeufsTer16)" "39" "0000918875" "00005457" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Glu130Gly)" "6" "0000918880" "00005457" "50" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Pro1096Ser)" "47" "0000918909" "00005457" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Val500Ile)" "23" "0000918911" "00005457" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Val500Ile)" "23" "0000922203" "00005457" "50" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Pro1096Ser)" "" "0000925635" "00005457" "50" "2084" "0" "2084" "0" "c.2084T>C" "r.(?)" "p.(Val695Ala)" "" "0000930092" "00005457" "50" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240Trp)" "" "0000930093" "00005457" "90" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Ter)" "" "0000930094" "00005457" "90" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "" "0000930095" "00005457" "90" "2355" "5" "2355" "5" "c.2355+5G>A" "r.spl?" "p.?" "" "0000930096" "00005457" "90" "492" "0" "492" "0" "c.492del" "r.(?)" "p.(Gly165ValfsTer34)" "" "0000939821" "00005457" "90" "3454" "0" "3454" "0" "c.3454G>C" "r.(?)" "p.(Gly1152Arg)" "49" "0000943893" "00005457" "90" "1527" "135" "1527" "135" "c.1527+135G>A" "r.(?)" "p.(?)" "" "0000944358" "00005457" "70" "4433" "0" "4433" "0" "c.4433G>A" "r.(?)" "p.(Gly1478Asp)" "" "0000949946" "00005457" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Pro1368=)" "" "0000949947" "00005457" "50" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276His)" "" "0000949948" "00005457" "90" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Ter)" "" "0000949949" "00005457" "30" "3151" "0" "3151" "0" "c.3151G>A" "r.(?)" "p.(Ala1051Thr)" "" "0000949950" "00005457" "90" "3050" "0" "3050" "0" "c.3050G>A" "r.(?)" "p.(Gly1017Asp)" "" "0000949951" "00005457" "90" "2887" "0" "2887" "0" "c.2887G>A" "r.(?)" "p.(Gly963Ser)" "" "0000949952" "00005457" "30" "2626" "-19" "2626" "-19" "c.2626-19C>T" "r.(=)" "p.(=)" "" "0000949953" "00005457" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Ile760=)" "" "0000949954" "00005457" "50" "2139" "0" "2139" "0" "c.2139G>C" "r.(?)" "p.(Gln713His)" "" "0000949955" "00005457" "50" "1526" "0" "1526" "0" "c.1526G>C" "r.(?)" "p.(Arg509Thr)" "" "0000949956" "00005457" "90" "709" "-1" "709" "-1" "c.709-1G>A" "r.spl?" "p.?" "" "0000949957" "00005457" "50" "532" "-126" "532" "-126" "c.532-126T>A" "r.(=)" "p.(=)" "" "0000949958" "00005457" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(=)" "" "0000953673" "00005457" "90" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Gly372Arg)" "18" "0000953675" "00005457" "90" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Gly636Asp)" "29" "0000953676" "00005457" "90" "1942" "0" "1942" "0" "c.1942G>C" "r.(?)" "p.(Gly648Arg)" "30" "0000953677" "00005457" "90" "2033" "0" "2033" "0" "c.2033G>A" "r.(?)" "p.(Gly678Glu)" "31" "0000953678" "00005457" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Gly801Ser)" "36" "0000953679" "00005457" "90" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(Gly1005Ser)" "44" "0000953680" "00005457" "90" "3400" "0" "3400" "0" "c.3400G>A" "r.(?)" "p.(Gly1134Ser)" "48" "0000953681" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "50" "0000953682" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "50" "0000953683" "00005457" "90" "4147" "0" "4147" "0" "c.4147del" "r.(?)" "p.(Thr1383Argfs*52)" "53" "0000953684" "00005457" "90" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Gly381Asp)" "19" "0000953837" "00005457" "70" "2862" "0" "2862" "0" "c.2862C>T" "r.spl" "p.?" "42" "0000953838" "00005457" "90" "2678" "0" "2678" "0" "c.2678dup" "r.(?)" "p.(Ala895SerfsTer49)" "40" "0000953839" "00005457" "70" "3327" "1" "3327" "1" "c.3327+1G>C" "r.spl" "p.?" "47i" "0000953840" "00005457" "90" "2003" "0" "2003" "0" "c.2003del" "r.(?)" "p.(Pro668LeufsTer120)" "31" "0000953841" "00005457" "90" "3867" "0" "3867" "0" "c.3867C>A" "r.(?)" "p.(Cys1289Ter)" "51" "0000953842" "00005457" "50" "4044" "0" "4044" "0" "c.4044G>C" "r.(?)" "p.(Trp1348Cys)" "52" "0000953845" "00005457" "50" "2680" "-3" "2680" "-3" "c.2680-3C>G" "r.spl" "p.?" "40i" "0000953846" "00005457" "70" "2862" "0" "2862" "0" "c.2862C>T" "r.spl" "p.?" "42" "0000953847" "00005457" "50" "3165" "1" "3165" "1" "c.3165+1G>A" "r.spl" "p.?" "45i" "0000953848" "00005457" "70" "870" "1" "870" "1" "c.870+1G>A" "r.spl" "p.?" "13i" "0000953849" "00005457" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Ter)" "9" "0000953850" "00005457" "70" "3598" "0" "3598" "0" "c.3598G>C" "r.(?)" "p.(Gly1200Arg)" "51" "0000953851" "00005457" "70" "3394" "0" "3394" "0" "c.3394del" "r.(?)" "p.(His1132ThrfsTer95)" "48" "0000953852" "00005457" "70" "1844" "0" "1844" "0" "c.1844del" "r.(?)" "p.(Gly615AlafsTer14)" "28" "0000953853" "00005457" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Cys)" "26" "0000953854" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036Ter)" "44" "0000953856" "00005457" "50" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Gly498Asp)" "23" "0000953858" "00005457" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Gly246Asp)" "11" "0000953859" "00005457" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036Ter)" "44" "0000953880" "00005457" "90" "1105" "0" "1105" "0" "c.1105G>C" "r.(?)" "p.(Gly369Arg)" "" "0000954958" "00005457" "50" "2862" "0" "2862" "0" "c.2862C>T" "r.spl" "p.?" "" "0000954959" "00005457" "50" "2862" "0" "2862" "0" "c.2862C>T" "r.spl" "p.?" "" "0000959336" "00005457" "50" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Ala1310Thr)" "" "0000960091" "00005457" "90" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Ser)" "" "0000966917" "00005457" "70" "4405" "0" "4405" "0" "c.4405G>C" "r.(?)" "p.(Asp1469His)" "" "0000966918" "00005457" "70" "4235" "0" "4235" "0" "c.4235T>C" "r.(?)" "p.(Leu1412Pro)" "" "0000966920" "00005457" "30" "4074" "65" "4074" "65" "c.4074+65C>G" "r.(=)" "p.(=)" "" "0000966921" "00005457" "50" "2759" "0" "2759" "0" "c.2759C>A" "r.(?)" "p.(Pro920His)" "" "0000966922" "00005457" "30" "2214" "0" "2214" "0" "c.2214C>G" "r.(?)" "p.(=)" "" "0000966923" "00005457" "90" "2219" "0" "2219" "0" "c.2219del" "r.(?)" "p.(Pro740Leufs*48)" "" "0000966924" "00005457" "30" "2046" "0" "2046" "0" "c.2046C>T" "r.(?)" "p.(=)" "" "0000966926" "00005457" "30" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Ala461Val)" "" "0000966927" "00005457" "50" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Ala274Ser)" "" "0000966928" "00005457" "30" "816" "13" "816" "13" "c.816+13G>A" "r.(=)" "p.(=)" "" "0000966929" "00005457" "30" "709" "-8" "709" "-8" "c.709-8G>T" "r.(=)" "p.(=)" "" "0000966930" "00005457" "50" "550" "0" "550" "0" "c.550G>T" "r.(?)" "p.(Ala184Ser)" "" "0000966931" "00005457" "70" "532" "-1" "532" "-1" "c.532-1G>A" "r.spl?" "p.?" "" "0000980267" "00005457" "50" "4283" "0" "4283" "0" "c.4283G>A" "r.(?)" "p.(Arg1428Lys)" "" "0000980268" "00005457" "30" "4149" "0" "4149" "0" "c.4149G>A" "r.(?)" "p.(=)" "" "0000980269" "00005457" "30" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Gly1356=)" "" "0000980270" "00005457" "30" "3719" "0" "3719" "0" "c.3719G>A" "r.(?)" "p.(Arg1240Gln)" "" "0000980271" "00005457" "30" "3683" "0" "3683" "0" "c.3683C>G" "r.(?)" "p.(Pro1228Arg)" "" "0000980272" "00005457" "50" "3525" "0" "3525" "0" "c.3525T>A" "r.(?)" "p.(Asp1175Glu)" "" "0000980273" "00005457" "50" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Val905Ile)" "" "0000980274" "00005457" "50" "2679" "0" "2679" "0" "c.2679G>C" "r.(?)" "p.(=)" "" "0000980275" "00005457" "30" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Gly858=)" "" "0000980276" "00005457" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Ala778=)" "" "0000980277" "00005457" "50" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653Gln)" "" "0000980278" "00005457" "50" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Leu556Phe)" "" "0000980279" "00005457" "30" "969" "6" "969" "6" "c.969+6T>C" "r.(=)" "p.(=)" "" "0000980280" "00005457" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Gln29*)" "" "0000989084" "00005457" "30" "3131" "0" "3131" "0" "c.3131G>C" "r.(?)" "p.(Gly1044Ala)" "" "0001000039" "00005457" "50" "4316" "0" "4316" "0" "c.4316C>T" "r.(?)" "p.(Thr1439Met)" "" "0001000040" "00005457" "70" "4229" "0" "4229" "0" "c.4229C>A" "r.(?)" "p.(Ala1410Asp)" "" "0001000041" "00005457" "50" "4150" "0" "4150" "0" "c.4150G>A" "r.(?)" "p.(Glu1384Lys)" "" "0001000042" "00005457" "30" "4092" "0" "4092" "0" "c.4092C>A" "r.(?)" "p.(Asp1364Glu)" "" "0001000043" "00005457" "50" "3773" "0" "3773" "0" "c.3773C>T" "r.(?)" "p.(Thr1258Ile)" "" "0001000044" "00005457" "50" "3756" "0" "3756" "0" "c.3756C>G" "r.(?)" "p.(Asp1252Glu)" "" "0001000045" "00005457" "50" "3173" "0" "3173" "0" "c.3173G>A" "r.(?)" "p.(Arg1058His)" "" "0001000046" "00005457" "30" "3160" "0" "3160" "0" "c.3160G>A" "r.(?)" "p.(Val1054Ile)" "" "0001000047" "00005457" "90" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Gly984Ser)" "" "0001000048" "00005457" "70" "2825" "0" "2825" "0" "c.2825G>T" "r.(?)" "p.(Gly942Val)" "" "0001000049" "00005457" "50" "2819" "0" "2819" "0" "c.2819G>A" "r.(?)" "p.(Arg940Gln)" "" "0001000050" "00005457" "30" "2680" "-5" "2680" "-5" "c.2680-5C>T" "r.spl?" "p.?" "" "0001000051" "00005457" "50" "2552" "0" "2552" "0" "c.2552A>G" "r.(?)" "p.(Gln851Arg)" "" "0001000052" "00005457" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Val770Ile)" "" "0001000053" "00005457" "50" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Arg707His)" "" "0001000054" "00005457" "30" "1941" "4" "1941" "4" "c.1941+4A>C" "r.spl?" "p.?" "" "0001000055" "00005457" "30" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0001000056" "00005457" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0001000057" "00005457" "30" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(=)" "" "0001000058" "00005457" "50" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326His)" "" "0001000059" "00005457" "50" "877" "0" "877" "0" "c.877C>A" "r.(?)" "p.(Pro293Thr)" "" "0001000060" "00005457" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149His)" "" "0001000061" "00005457" "30" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0001008455" "00005457" "90" "2735" "0" "2735" "0" "c.2735G>A" "r.(?)" "p.(Gly912Asp)" "" "0001014975" "00005457" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Gly1080Ser)" "" "0001014976" "00005457" "90" "2382" "0" "2382" "0" "c.2382del" "r.(?)" "p.(Gly795AlafsTer86)" "" "0001014977" "00005457" "90" "1489" "0" "1492" "0" "c.1489_1492dup" "r.(?)" "p.(Gly498Alafs*51)" "" "0001014978" "00005457" "90" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Gly234Asp)" "" "0001014979" "00005457" "70" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Gly210Glu)" "" "0001020220" "00005457" "70" "4355" "0" "4355" "0" "c.4355A>G" "r.(?)" "p.(Tyr1452Cys)" "54" "0001020728" "00005457" "70" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0001026180" "00005457" "90" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "" "0001026181" "00005457" "90" "2750" "0" "2750" "0" "c.2750dup" "r.(?)" "p.(Gly918Trpfs*26)" "" "0001026182" "00005457" "50" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(=)" "" "0001026183" "00005457" "90" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Gly306Asp)" "" "0001039241" "00005457" "50" "4289" "0" "4289" "0" "c.4289C>T" "r.(?)" "p.(Thr1430Met)" "" "0001039242" "00005457" "50" "4149" "0" "4149" "0" "c.4149G>A" "r.(?)" "p.(=)" "" "0001039243" "00005457" "50" "3700" "0" "3700" "0" "c.3700G>A" "r.(?)" "p.(Asp1234Asn)" "" "0001039244" "00005457" "50" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Pro809Leu)" "" "0001039245" "00005457" "50" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Met206Thr)" "" "0001039246" "00005457" "50" "532" "-3" "532" "-3" "c.532-3C>A" "r.spl?" "p.?" "" "0001046378" "00005457" "50" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Met206Thr)" "" "0001048173" "00005457" "70" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137His)" "" "0001048185" "00005457" "70" "3106" "0" "3106" "0" "c.3106C>G" "r.(?)" "p.(Arg1036Gly)" "" "0001048191" "00005457" "70" "3106" "0" "3106" "0" "c.3106C>G" "r.(?)" 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