### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCOF1) # 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}}" "TCOF1" "Treacher Collins-Franceschetti syndrome 1" "5" "q32" "unknown" "NG_011341.1" "UD_132084464039" "" "https://www.LOVD.nl/TCOF1" "" "1" "11654" "6949" "606847" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TCOF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-26 19:25:12" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025553" "TCOF1" "transcript variant 4" "001" "NM_001135243.1" "" "NP_001128715.1" "" "" "" "-108" "4988" "4467" "149737202" "149779871" "00006" "2020-09-30 12:22:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00284" "-" "epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy" "" "" "" "" "" "00081" "2013-11-28 15:59:11" "00006" "2015-12-08 23:59:30" "00472" "OAS" "oculo-auricular syndrome (OAS)" "" "612109" "" "" "" "00006" "2014-07-24 08:43:38" "00006" "2015-12-07 07:11:25" "00617" "TCS1" "Treacher Collins syndrome, type 1 (TCS1)" "AD" "154500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-19 14:45:06" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05668" "TCS" "Treacher Collins syndrome" "" "" "" "" "" "00008" "2019-10-30 16:36:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TCOF1" "00139" "TCOF1" "00617" ## Individuals ## Do not remove or alter this header ## ## Count = 272 "{{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}}" "00050455" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00282937" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00282938" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282939" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00282940" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00282941" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00282942" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00282943" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282944" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00282945" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282946" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00282947" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282948" "" "" "" "1" "" "00004" "{PMID:Fujioka 2008:19067896}" "" "" "" "" "" "0" "" "" "" "" "00282949" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282950" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282951" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00282952" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282953" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00282954" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00282955" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282956" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282957" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282958" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00282959" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00282960" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282961" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00282962" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00282963" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282964" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00282965" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282966" "" "" "" "1" "" "00004" "{PMID:Marszalek 2003:14598341}" "" "" "" "" "" "0" "" "" "" "" "00282967" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282968" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00282969" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00282970" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00282971" "" "" "" "1" "" "00004" "{PMID:Gladwin 1996:8894686}" "" "" "" "" "" "0" "" "" "" "" "00282972" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00282973" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}, {PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00282974" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00282975" "" "" "" "1" "" "00004" "{PMID:Fujioka 2008:19067896}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282976" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}, {PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00282977" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00282978" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00282979" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282980" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282981" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00282982" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00282983" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282984" "" "" "" "1" "" "00004" "{PMID:Gladwin 1996:8894686}" "" "" "" "" "" "0" "" "" "" "" "00282985" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282986" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282987" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00282988" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00282989" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00282990" "" "" "" "1" "" "00004" "{PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "" "" "0" "" "" "" "" "00282991" "" "" "" "1" "" "00004" "{PMID:Horiuchi 2005:15759264}" "" "" "" "" "" "0" "" "" "" "" "00282992" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282993" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00282994" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00282995" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Schlump 2012:22729243}" "" "" "" "" "" "0" "" "" "" "" "00282996" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00282997" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00282998" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00282999" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283000" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283001" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283002" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283003" "" "" "" "1" "" "00004" "{PMID:Wang 2014:24994558}" "" "" "" "" "" "0" "" "" "" "" "00283004" "" "" "" "1" "" "00004" "{PMID:Su 2007:17786119}" "" "" "" "" "" "0" "" "" "" "" "00283005" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283006" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283007" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283008" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283009" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283010" "" "" "" "1" "" "00004" "{PMID:Gladwin 1996:8894686}" "" "" "" "" "" "0" "" "" "" "" "00283011" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283012" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283013" "" "" "" "1" "" "00004" "{PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "" "" "0" "" "" "" "" "00283014" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283015" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283016" "" "" "" "1" "" "00004" "{PMID:Caluseriu 2013:24108658}, {PMID:Lowry 1985:4061487}, {PMID:Katsanis 1993:20301704}, {PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283017" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Shoo 2004:15039977}, {PMID:Wise 1997:9096354}" "" "" "" "" "" "0" "" "" "" "" "00283018" "" "" "" "1" "" "00004" "{PMID:Wang 2014:24994558}" "" "" "" "" "" "0" "" "" "" "" "00283019" "" "" "" "1" "" "00004" "{PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "" "" "0" "" "" "" "" "00283020" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283021" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283022" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283023" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283024" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283025" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283026" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283027" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283028" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283029" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283030" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283031" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283032" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283033" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283034" "" "" "" "1" "" "00004" "{PMID:Horiuchi 2005:15759264}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283035" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283036" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283037" "" "" "" "1" "" "00004" "{PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283038" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283039" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283040" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283041" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283042" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283043" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}, {PMID:Wang 2014:24994558}" "" "" "" "" "" "0" "" "" "" "" "00283044" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283045" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283046" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283047" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283048" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283049" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283050" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283051" "" "" "" "1" "" "00004" "{PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "" "" "0" "" "" "" "" "00283052" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283053" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283054" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283055" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283056" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283057" "" "" "" "1" "" "00004" "{PMID:Horiuchi 2005:15759264}" "" "" "" "" "" "0" "" "" "" "" "00283058" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283059" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283060" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283061" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283062" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283063" "" "" "" "1" "" "00004" "{PMID:Su 2007:17786119}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283064" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283065" "" "" "" "1" "" "00004" "{PMID:Gladwin 1996:8894686}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283066" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283067" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00283068" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283069" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283070" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283071" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283072" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283073" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283074" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283075" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283076" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283077" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283078" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283079" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283080" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283081" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283082" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283083" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}" "" "" "" "" "" "0" "" "" "" "" "00283084" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00283085" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}" "" "" "" "" "" "0" "" "" "" "" "00283086" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283087" "" "" "" "1" "" "00004" "{PMID:Horiuchi 2005:15759264}" "" "" "" "" "" "0" "" "" "" "" "00283088" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283089" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283090" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}" "" "" "" "" "" "0" "" "" "" "" "00283091" "" "" "" "1" "" "00004" "{PMID:Wise 1997:9096354}" "" "" "" "" "" "0" "" "" "" "" "00283092" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283093" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283094" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283095" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283096" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283097" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283098" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283099" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283100" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283101" "" "" "" "1" "" "00004" "{PMID:Caluseriu 2013:24108658}" "" "" "" "" "" "0" "" "" "" "" "00283102" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283103" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Horiuchi 2004:15214011}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283104" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283105" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283106" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283107" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283108" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283109" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283110" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283111" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283112" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283113" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Caluseriu 2013:24108658}" "" "" "" "" "" "0" "" "" "" "" "00283114" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283115" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283116" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283117" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283118" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283119" "" "" "" "1" "" "00004" "{PMID:Horiuchi 2005:15759264}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283120" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283121" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283122" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283123" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283124" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283125" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283126" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283127" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283128" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283129" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283130" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283131" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283132" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283133" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283134" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283135" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283136" "" "" "" "1" "" "00004" "{PMID:Macaya 2009:19572402}" "" "" "" "" "" "0" "" "" "" "" "00283137" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283138" "" "" "" "1" "" "00004" "{PMID:Su 2006:16801042}" "" "" "" "" "" "0" "" "" "" "" "00283139" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283140" "" "" "" "1" "" "00004" "{PMID:Zinchenko 2012:22730774}" "" "" "" "" "" "0" "" "" "" "" "00283141" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283142" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283143" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283144" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283145" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283146" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283147" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283148" "" "" "" "1" "" "00004" "{PMID:Dixon 2004:15150774}" "" "" "" "" "" "0" "" "" "" "" "00283149" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283150" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283151" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283152" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283153" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00283154" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283155" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00283156" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283157" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283158" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283159" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283160" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}" "" "" "" "" "" "0" "" "" "" "" "00283161" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283162" "" "" "" "1" "" "00004" "{PMID:Splendore 2000:11013442}" "" "" "" "" "" "0" "" "" "" "" "00283163" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283164" "" "" "" "1" "" "00004" "{PMID:Conte 2011:21951868}" "" "" "" "" "" "0" "" "" "" "" "00283165" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283166" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00283167" "" "" "" "1" "" "00004" "{PMID:Writzl 2008:18627048}" "" "" "" "" "" "0" "" "" "" "" "00283168" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}" "" "" "" "" "" "0" "" "" "" "" "00283169" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283170" "" "" "" "1" "" "00004" "{PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283171" "" "" "" "1" "" "00004" "{PMID:Bauer 2013:23401420}" "" "" "" "" "" "0" "" "" "" "" "00283172" "" "" "" "1" "" "00004" "{PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283173" "" "" "" "1" "" "00004" "{PMID:Teber 2004:15340364}" "" "" "" "" "" "0" "" "" "" "" "00283174" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283175" "" "" "" "1" "" "00004" "{PMID:Su 2012:21848650}" "" "" "" "" "" "0" "" "" "" "" "00283176" "" "" "" "1" "" "00004" "{PMID:Edwards 1997:9042910}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283177" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283178" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283179" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Li 2009:19050407}, {PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283180" "" "" "" "1" "" "00004" "{PMID:Bowman 2012:22317976}" "" "" "" "" "" "0" "" "" "" "" "00283181" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283182" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283183" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}, {PMID:Splendore 2000:11013442}, {PMID:Edwards 1997:9042910}, {PMID:Masotti 2009:20003452}" "" "" "" "" "" "0" "" "" "" "" "00283184" "" "" "" "1" "" "00004" "{PMID:Splendore 2002:12114482}" "" "" "" "" "" "0" "" "" "" "" "00283185" "" "" "" "1" "" "00004" "{PMID:Zhang 2013:23838542}" "" "" "" "" "" "0" "" "" "" "" "00283186" "" "" "" "1" "" "00004" "{PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00293797" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295512" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00295670" "" "" "" "1" "" "02401" "" "" "F" "no" "Italy" "35y" "0" "" "" "" "" "00301206" "" "" "" "1" "" "03145" "" "" "M" "no" "China" "00y06m" "0" "" "" "African" "" "00305490" "" "" "" "1" "" "03640" "" "" "F" "" "China" "" "" "" "" "" "Case 1 proband" "00305493" "" "" "" "1" "" "03640" "" "" "M" "no" "China" "" "" "" "" "" "Case 2 proband" "00305494" "" "" "" "1" "" "03640" "" "" "" "" "" "" "" "" "" "" "Case 3 proband" "00305495" "" "" "" "1" "" "03640" "" "" "" "" "" "" "" "" "" "" "Case 4 proband" "00305496" "" "" "" "2" "" "03640" "" "" "M" "" "China" "" "" "" "" "" "Case 5 proband" "00305498" "" "" "00305496" "1" "" "03640" "" "" "F" "" "China" "" "" "" "" "" "Case 5 proband\'s mother" "00331573" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "09DG01603" "00404909" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient (Male)" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_55" "00406527" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "4 cases (3F, 1M)" "F" "no" "Mexico" "" "0" "" "none" "" "EFAV_147" "00406530" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "6 patients (4F, 2M)" "F" "no" "Mexico" "" "0" "" "none" "" "EFAV_035" "00408464" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "4 patients (3F, 1M)" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_110" "00408466" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "21 patients (16M, 5F)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_52" "00408552" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "F" "no" "Mexico" "" "0" "" "None" "" "EFAV-79" "00408988" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "" "Mexico" "" "0" "" "none" "" "EFAV_132" "00433663" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00435113" "" "" "" "1" "" "01741" "" "" "F" "" "Germany" "" "" "" "" "" "" "00449717" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 271 "{{individualid}}" "{{diseaseid}}" "00050455" "00198" "00282937" "05668" "00282938" "05668" "00282939" "05668" "00282940" "05668" "00282941" "05668" "00282942" "05668" "00282943" "05668" "00282944" "05668" "00282945" "05668" "00282946" "05668" "00282947" "05668" "00282948" "05668" "00282949" "05668" "00282950" "05668" "00282951" "05668" "00282952" "05668" "00282953" "05668" "00282954" "05668" "00282955" "05668" "00282956" "05668" "00282957" "05668" "00282958" "05668" "00282959" "05668" "00282960" "05668" "00282961" "05668" "00282962" "05668" "00282963" "05668" "00282964" "05668" "00282965" "05668" "00282966" "05668" "00282967" "05668" "00282968" "05668" "00282969" "05668" "00282970" "05668" "00282971" "05668" "00282972" "05668" "00282973" "05668" "00282974" "05668" "00282975" "05668" "00282976" "05668" "00282977" "05668" "00282978" "05668" "00282979" "05668" "00282980" "05668" "00282981" "05668" "00282982" "05668" "00282983" "05668" "00282984" "05668" "00282985" "05668" "00282986" "05668" "00282987" "05668" "00282988" "05668" "00282989" "05668" "00282990" "05668" "00282991" "05668" "00282992" "05668" "00282993" "05668" "00282994" "05668" "00282995" "05668" "00282996" "05103" "00282997" "05668" "00282998" "05668" "00282999" "05668" "00283000" "05668" "00283001" "05668" "00283002" "05668" "00283003" "05668" "00283004" "00198" "00283005" "05668" "00283006" "05668" "00283007" "05668" "00283008" "05668" "00283009" "05668" "00283010" "05668" "00283011" "05668" "00283012" "05668" "00283013" "05668" "00283014" "05668" "00283015" "05668" "00283016" "05668" "00283017" "05668" "00283018" "05668" "00283019" "05668" "00283020" "05668" "00283021" "05668" "00283022" "05668" "00283023" "05668" "00283024" "05668" "00283025" "05668" "00283026" "05668" "00283027" "05668" "00283028" "05668" "00283029" "05668" "00283030" "05668" "00283031" "05668" "00283032" "05668" "00283033" "05668" "00283034" "05668" "00283035" "05668" "00283036" "05668" "00283037" "05668" "00283038" "05668" "00283039" "05668" "00283040" "05668" "00283041" "05668" "00283042" "05668" "00283043" "05668" "00283044" "05668" "00283045" "05668" "00283046" "05668" "00283047" "05668" "00283048" "05668" "00283049" "05668" "00283050" "05668" "00283051" "05668" "00283052" "05668" "00283053" "05668" "00283054" "05668" "00283055" "05668" "00283056" "05668" "00283057" "05668" "00283058" "05668" "00283059" "05668" "00283060" "05668" "00283061" "05668" "00283062" "05668" "00283063" "05668" "00283064" "05668" "00283065" "05668" "00283066" "05668" "00283067" "05668" "00283068" "05668" "00283069" "05668" "00283070" "05103" "00283071" "05668" "00283072" "05668" "00283073" "05668" "00283074" "05668" "00283075" "05668" "00283076" "05668" "00283077" "05668" "00283079" "05668" "00283080" "05668" "00283081" "05668" "00283082" "05668" "00283083" "05668" "00283084" "05668" "00283085" "05668" "00283086" "05668" "00283087" "05668" "00283088" "05668" "00283089" "05668" "00283090" "05668" "00283091" "05668" "00283092" "05668" "00283093" "05668" "00283094" "05668" "00283095" "05668" "00283096" "05668" "00283097" "05668" "00283098" "05668" "00283099" "05668" "00283100" "05668" "00283101" "05668" "00283102" "05103" "00283103" "05668" "00283104" "05668" "00283105" "05668" "00283106" "05668" "00283107" "05668" "00283108" "05668" "00283109" "05668" "00283110" "05668" "00283111" "05668" "00283112" "05668" "00283113" "05668" "00283114" "05668" "00283115" "05668" "00283116" "05668" "00283117" "05668" "00283118" "05668" "00283119" "05668" "00283120" "05668" "00283121" "05668" "00283122" "05668" "00283123" "05668" "00283124" "05668" "00283125" "05668" "00283126" "05668" "00283127" "05668" "00283128" "05668" "00283129" "05668" "00283130" "05668" "00283131" "05668" "00283132" "05668" "00283133" "05668" "00283134" "05668" "00283135" "05668" "00283136" "05668" "00283137" "05668" "00283138" "05668" "00283139" "05668" "00283140" "05668" "00283141" "05668" "00283142" "05668" "00283143" "05668" "00283144" "05668" "00283145" "05668" "00283146" "05668" "00283147" "05668" "00283148" "05668" "00283149" "05668" "00283150" "05668" "00283151" "05668" "00283152" "05668" "00283153" "05668" "00283154" "05668" "00283155" "05668" "00283156" "05668" "00283157" "05668" "00283158" "05668" "00283159" "05668" "00283160" "05668" "00283161" "05668" "00283162" "05668" "00283163" "05668" "00283164" "05668" "00283165" "05668" "00283166" "05668" "00283167" "05668" "00283168" "05668" "00283169" "05668" "00283170" "05668" "00283171" "05668" "00283172" "05668" "00283173" "05668" "00283174" "05668" "00283175" "00198" "00283176" "05668" "00283177" "05668" "00283178" "05668" "00283179" "05668" "00283180" "05668" "00283181" "05668" "00283182" "05668" "00283183" "05668" "00283184" "05668" "00283185" "05668" "00283186" "05668" "00293797" "00198" "00295512" "05668" "00295670" "00617" "00301206" "00617" "00305490" "00617" "00305493" "00617" "00305494" "00617" "00305495" "00617" "00305496" "00617" "00305498" "00617" "00331573" "05517" "00404909" "00472" "00406527" "00472" "00406530" "00472" "00408464" "00472" "00408466" "00472" "00408552" "00472" "00408988" "00472" "00433663" "00284" "00435113" "05668" "00449717" "05668" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00284, 00472, 00617, 05103, 05517, 05668 ## Count = 267 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037067" "00198" "00050455" "00006" "Unknown" "" "downslanted palpebral fissures, micrognathia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000216653" "00198" "00283004" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hemifacial microsomia" "" "0000216654" "00198" "00283175" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hemifacial microsomia" "" "0000218445" "05103" "00282996" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218446" "05103" "00283070" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218447" "05103" "00283102" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000219415" "05668" "00282937" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219416" "05668" "00282938" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219417" "05668" "00282939" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219418" "05668" "00282940" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219419" "05668" "00282941" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219420" "05668" "00282942" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219421" "05668" "00282943" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219422" "05668" "00282944" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219423" "05668" "00282945" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219424" "05668" "00282946" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219425" "05668" "00282947" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219426" "05668" "00282948" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219427" "05668" "00282949" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219428" "05668" "00282950" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219429" "05668" "00282951" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219430" "05668" "00282952" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219431" "05668" "00282953" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219432" "05668" "00282954" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219433" "05668" "00282955" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219434" "05668" "00282956" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219435" "05668" "00282957" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219436" "05668" "00282958" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219437" "05668" "00282959" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219438" "05668" "00282960" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219439" "05668" "00282961" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219440" "05668" "00282962" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219441" "05668" "00282963" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219442" "05668" "00282964" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219443" "05668" "00282965" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219444" "05668" "00282966" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219445" "05668" "00282967" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219446" "05668" "00282968" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219447" "05668" "00282969" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219448" "05668" "00282970" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219449" "05668" "00282971" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219450" "05668" "00282972" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219451" "05668" "00282973" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219452" "05668" "00282974" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219453" "05668" "00282975" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219454" "05668" "00282976" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219455" "05668" "00282977" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219456" "05668" "00282978" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219457" "05668" "00282979" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219458" "05668" "00282980" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219459" "05668" "00282981" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219460" "05668" "00282982" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219461" "05668" "00282983" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219462" "05668" "00282984" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219463" "05668" "00282985" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219464" "05668" "00282986" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219465" "05668" "00282987" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219466" "05668" "00282988" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219467" "05668" "00282989" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219468" "05668" "00282990" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219469" "05668" "00282991" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219470" "05668" "00282992" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219471" "05668" "00282993" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219472" "05668" "00282994" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219473" "05668" "00282995" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219474" "05668" "00282997" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219475" "05668" "00282998" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219476" "05668" "00282999" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219477" "05668" "00283000" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219478" "05668" "00283001" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219479" "05668" "00283002" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219480" "05668" "00283003" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219481" "05668" "00283005" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219482" "05668" "00283006" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219483" "05668" "00283007" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219484" "05668" "00283008" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219485" "05668" "00283009" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219486" "05668" "00283010" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219487" "05668" "00283011" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219488" "05668" "00283012" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219489" "05668" "00283013" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219490" "05668" "00283014" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219491" "05668" "00283015" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219492" "05668" "00283016" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219493" "05668" "00283017" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219494" "05668" "00283018" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219495" "05668" "00283019" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219496" "05668" "00283020" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219497" "05668" "00283021" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219498" "05668" "00283022" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219499" "05668" "00283023" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219500" "05668" "00283024" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219501" "05668" "00283025" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219502" "05668" "00283026" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219503" "05668" "00283027" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219504" "05668" "00283028" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219505" "05668" "00283029" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219506" "05668" "00283030" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219507" "05668" "00283031" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219508" "05668" "00283032" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219509" "05668" "00283033" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219510" "05668" "00283034" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219511" "05668" "00283035" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219512" "05668" "00283036" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219513" "05668" "00283037" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219514" "05668" "00283038" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219515" "05668" "00283039" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219516" "05668" "00283040" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219517" "05668" "00283041" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219518" "05668" "00283042" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219519" "05668" "00283043" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219520" "05668" "00283044" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219521" "05668" "00283045" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219522" "05668" "00283046" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219523" "05668" "00283047" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219524" "05668" "00283048" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219525" "05668" "00283049" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219526" "05668" "00283050" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219527" "05668" "00283051" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219528" "05668" "00283052" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219529" "05668" "00283053" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219530" "05668" "00283054" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219531" "05668" "00283055" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219532" "05668" "00283056" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219533" "05668" "00283057" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219534" "05668" "00283058" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219535" "05668" "00283059" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219536" "05668" "00283060" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219537" "05668" "00283061" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219538" "05668" "00283062" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219539" "05668" "00283063" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219540" "05668" "00283064" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219541" "05668" "00283065" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219542" "05668" "00283066" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219543" "05668" "00283067" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219544" "05668" "00283068" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219545" "05668" "00283069" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219546" "05668" "00283071" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219547" "05668" "00283072" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219548" "05668" "00283073" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219549" "05668" "00283074" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219550" "05668" "00283075" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219551" "05668" "00283076" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219552" "05668" "00283077" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219553" "05668" "00283079" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219554" "05668" "00283080" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219555" "05668" "00283081" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219556" "05668" "00283082" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219557" "05668" "00283083" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219558" "05668" "00283084" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219559" "05668" "00283085" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219560" "05668" "00283086" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219561" "05668" "00283087" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219562" "05668" "00283088" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219563" "05668" "00283089" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219564" "05668" "00283090" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219565" "05668" "00283091" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219566" "05668" "00283092" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219567" "05668" "00283093" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219568" "05668" "00283094" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219569" "05668" "00283095" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219570" "05668" "00283096" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219571" "05668" "00283097" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219572" "05668" "00283098" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219573" "05668" "00283099" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219574" "05668" "00283100" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219575" "05668" "00283101" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219576" "05668" "00283103" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219577" "05668" "00283104" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219578" "05668" "00283105" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219579" "05668" "00283106" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219580" "05668" "00283107" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219581" "05668" "00283108" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219582" "05668" "00283109" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219583" "05668" "00283110" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219584" "05668" "00283111" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219585" "05668" "00283112" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219586" "05668" "00283113" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219587" "05668" "00283114" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219588" "05668" "00283115" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219589" "05668" "00283116" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219590" "05668" "00283117" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219591" "05668" "00283118" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219592" "05668" "00283119" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219593" "05668" "00283120" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219594" "05668" "00283121" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219595" "05668" "00283122" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219596" "05668" "00283123" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219597" "05668" "00283124" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219598" "05668" "00283125" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219599" "05668" "00283126" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219600" "05668" "00283127" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219601" "05668" "00283128" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219602" "05668" "00283129" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219603" "05668" "00283130" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219604" "05668" "00283131" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219605" "05668" "00283132" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219606" "05668" "00283133" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219607" "05668" "00283134" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219608" "05668" "00283135" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219609" "05668" "00283136" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219610" "05668" "00283137" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219611" "05668" "00283138" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219612" "05668" "00283139" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219613" "05668" "00283140" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219614" "05668" "00283141" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219615" "05668" "00283142" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219616" "05668" "00283143" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219617" "05668" "00283144" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219618" "05668" "00283145" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219619" "05668" "00283146" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219620" "05668" "00283147" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219621" "05668" "00283148" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219622" "05668" "00283149" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219623" "05668" "00283150" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219624" "05668" "00283151" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219625" "05668" "00283152" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219626" "05668" "00283153" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219627" "05668" "00283154" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219628" "05668" "00283155" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219629" "05668" "00283156" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219630" "05668" "00283157" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219631" "05668" "00283158" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219632" "05668" "00283159" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219633" "05668" "00283160" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219634" "05668" "00283161" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219635" "05668" "00283162" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219636" "05668" "00283163" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219637" "05668" "00283164" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219638" "05668" "00283165" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219639" "05668" "00283166" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000219640" "05668" "00283167" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219641" "05668" "00283168" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219642" "05668" "00283169" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219643" "05668" "00283170" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219644" "05668" "00283171" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219645" "05668" "00283172" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219646" "05668" "00283173" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219647" "05668" "00283174" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219648" "05668" "00283176" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219649" "05668" "00283177" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219650" "05668" "00283178" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219651" "05668" "00283179" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219652" "05668" "00283180" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219653" "05668" "00283181" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219654" "05668" "00283182" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219655" "05668" "00283183" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219656" "05668" "00283184" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219657" "05668" "00283185" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219658" "05668" "00283186" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Treacher collins syndrome" "" "0000228474" "00617" "00301206" "03145" "Isolated (sporadic)" "00y06m" "The patient had malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, malformed ears, and loss hearing" "00y04m" "00y08m" "malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, malformed ears, and loss hearing" "" "" "" "" "" "TCS-1" "UNKONGWN" "" "0000231339" "00617" "00305490" "03640" "Isolated (sporadic)" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000231340" "00617" "00305493" "03640" "Isolated (sporadic)" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000231342" "00617" "00305494" "03640" "Isolated (sporadic)" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000231343" "00617" "00305495" "03640" "Isolated (sporadic)" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Hypoplasia of the middle ear; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000231344" "00617" "00305496" "03640" "Familial, autosomal dominant" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000231345" "00617" "00305498" "03640" "Isolated (sporadic)" "" "Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Conductive hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000249765" "05517" "00331573" "00000" "Familial, autosomal recessive" "" "Maxillozygomatic hypoplasia, Choanal atresia, Microtia, Atresia of the external auditory caNo" "" "" "" "" "" "" "" "" "Dysostoses with predominant craniofacial involvement" "skeletal dysplasia" "" "0000298999" "00981" "00404909" "04221" "Complex" "01y09m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)" "" "" "Mircotia (HPO:0008551)" "TCOF1" "" "" "" "" "OAVS" "Microtia" "" "0000299002" "00472" "00406527" "04221" "Complex" "03y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)" "" "" "" "TCOF1" "" "" "" "" "OAVS" "Microtia" "" "0000299004" "00472" "00406530" "04221" "Complex" "02y05m" "Microtia (HPO:0008551), stenosis of the external auditory canal (HPO:0000402), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), facial paralysis (HP:0007209)" "" "" "" "TCOF1" "" "" "" "" "OAVS" "Microtia" "" "0000300580" "00472" "00408464" "04221" "Unknown" "03y05m" "Microtia (HPO:0008551), hemifacial hypoplasia (HPO:0011332), facial paralysis (HP:0007209), Vertebral clefting (HP:0008428)" "" "" "" "TCOF1" "" "" "" "" "OAVS" "Microtia" "" "0000300581" "00472" "00408466" "04221" "Unknown" "02y07m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405)" "" "" "" "TCOF1" "" "" "" "" "OAVS" "Microtia" "" "0000300670" "00472" "00408552" "04221" "Unknown" "02y05m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)" "" "" "" "TCOF1" "" "" "" "" "OAVS" "microtia" "" "0000301106" "00472" "00408988" "04221" "Unknown" "16y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)." "" "" "" "TCOF1" "" "" "" "" "" "" "" "0000324086" "00284" "00433663" "03544" "Unknown" "" "severe intellectual disability, spastic quadriplegia, epilepsy, facial abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000325346" "05668" "00435113" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 272 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050400" "00050455" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000284087" "00282937" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284088" "00282938" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284089" "00282939" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284090" "00282940" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284091" "00282941" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284092" "00282942" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284093" "00282943" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284094" "00282944" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284095" "00282945" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284096" "00282946" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284097" "00282947" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284098" "00282948" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284099" "00282949" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284100" "00282950" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284101" "00282951" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284102" "00282952" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284103" "00282953" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284104" "00282954" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284105" "00282955" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284106" "00282956" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284107" "00282957" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284108" "00282958" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284109" "00282959" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284110" "00282960" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284111" "00282961" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284112" "00282962" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284113" "00282963" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284114" "00282964" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284115" "00282965" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284116" "00282966" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284117" "00282967" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284118" "00282968" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284119" "00282969" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284120" "00282970" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284121" "00282971" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284122" "00282972" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284123" "00282973" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284124" "00282974" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284125" "00282975" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284126" "00282976" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284127" "00282977" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284128" "00282978" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284129" "00282979" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284130" "00282980" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284131" "00282981" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284132" "00282982" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284133" "00282983" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284134" "00282984" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284135" "00282985" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284136" "00282986" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284137" "00282987" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284138" "00282988" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284139" "00282989" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284140" "00282990" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284141" "00282991" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284142" "00282992" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284143" "00282993" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284144" "00282994" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284145" "00282995" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284146" "00282996" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284147" "00282997" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284148" "00282998" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284149" "00282999" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284150" "00283000" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284151" "00283001" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284152" "00283002" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284153" "00283003" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284154" "00283004" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284155" "00283005" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284156" "00283006" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284157" "00283007" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284158" "00283008" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284159" "00283009" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284160" "00283010" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284161" "00283011" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284162" "00283012" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284163" "00283013" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284164" "00283014" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284165" "00283015" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284166" "00283016" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284167" "00283017" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284168" "00283018" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284169" "00283019" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284170" "00283020" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284171" "00283021" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284172" "00283022" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284173" "00283023" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284174" "00283024" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284175" "00283025" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284176" "00283026" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284177" "00283027" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284178" "00283028" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284179" "00283029" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284180" "00283030" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284181" "00283031" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284182" "00283032" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284183" "00283033" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284184" "00283034" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284185" "00283035" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284186" "00283036" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284187" "00283037" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284188" "00283038" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284189" "00283039" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284190" "00283040" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284191" "00283041" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284192" "00283042" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284193" "00283043" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284194" "00283044" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284195" "00283045" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284196" "00283046" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284197" "00283047" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284198" "00283048" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284199" "00283049" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284200" "00283050" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284201" "00283051" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284202" "00283052" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284203" "00283053" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284204" "00283054" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284205" "00283055" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284206" "00283056" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284207" "00283057" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284208" "00283058" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284209" "00283059" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284210" "00283060" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284211" "00283061" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284212" "00283062" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284213" "00283063" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284214" "00283064" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284215" "00283065" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284216" "00283066" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284217" "00283067" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284218" "00283068" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284219" "00283069" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284220" "00283070" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284221" "00283071" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284222" "00283072" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284223" "00283073" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284224" "00283074" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284225" "00283075" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284226" "00283076" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284227" "00283077" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284228" "00283078" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284229" "00283079" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284230" "00283080" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284231" "00283081" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284232" "00283082" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284233" "00283083" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284234" "00283084" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284235" "00283085" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284236" "00283086" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284237" "00283087" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284238" "00283088" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284239" "00283089" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284240" "00283090" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284241" "00283091" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284242" "00283092" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284243" "00283093" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284244" "00283094" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284245" "00283095" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284246" "00283096" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284247" "00283097" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284248" "00283098" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284249" "00283099" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284250" "00283100" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284251" "00283101" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284252" "00283102" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284253" "00283103" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284254" "00283104" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284255" "00283105" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284256" "00283106" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284257" "00283107" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284258" "00283108" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284259" "00283109" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284260" "00283110" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284261" "00283111" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284262" "00283112" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284263" "00283113" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284264" "00283114" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284265" "00283115" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284266" "00283116" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284267" "00283117" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284268" "00283118" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284269" "00283119" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284270" "00283120" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284271" "00283121" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284272" "00283122" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284273" "00283123" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284274" "00283124" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284275" "00283125" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284276" "00283126" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284277" "00283127" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284278" "00283128" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284279" "00283129" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284280" "00283130" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284281" "00283131" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284282" "00283132" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284283" "00283133" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284284" "00283134" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284285" "00283135" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284286" "00283136" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284287" "00283137" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284288" "00283138" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284289" "00283139" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284290" "00283140" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284291" "00283141" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284292" "00283142" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284293" "00283143" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284294" "00283144" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284295" "00283145" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284296" "00283146" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284297" "00283147" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284298" "00283148" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284299" "00283149" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284300" "00283150" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284301" "00283151" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284302" "00283152" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284303" "00283153" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284304" "00283154" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284305" "00283155" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284306" "00283156" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284307" "00283157" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284308" "00283158" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284309" "00283159" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284310" "00283160" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284311" "00283161" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284312" "00283162" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284313" "00283163" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284314" "00283164" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284315" "00283165" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284316" "00283166" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284317" "00283167" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284318" "00283168" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284319" "00283169" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284320" "00283170" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284321" "00283171" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284322" "00283172" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284323" "00283173" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284324" "00283174" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284325" "00283175" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284326" "00283176" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284327" "00283177" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284328" "00283178" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284329" "00283179" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284330" "00283180" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284331" "00283181" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284332" "00283182" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284333" "00283183" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284334" "00283184" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284335" "00283185" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284336" "00283186" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294965" "00293797" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296680" "00295512" "1" "01741" "01741" "2020-03-13 12:05:06" "" "" "SEQ" "DNA" "" "" "0000296842" "00295670" "1" "02401" "02401" "2020-03-22 20:18:48" "" "" "SEQ" "DNA" "" "" "0000302329" "00301206" "1" "03145" "03145" "2020-05-09 08:29:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000306621" "00305490" "1" "03640" "03640" "2020-06-26 15:01:45" "" "" "SEQ-NG" "DNA" "" "" "0000306622" "00305493" "1" "03640" "03640" "2020-06-26 16:26:04" "" "" "SEQ-NG" "DNA" "" "" "0000306623" "00305494" "1" "03640" "03640" "2020-06-26 16:30:38" "" "" "SEQ-NG" "DNA" "" "" "0000306624" "00305495" "1" "03640" "03640" "2020-06-26 16:35:35" "" "" "SEQ-NG" "DNA" "" "" "0000306625" "00305496" "1" "03640" "03640" "2020-06-26 16:42:08" "" "" "SEQ-NG" "DNA" "" "" "0000306627" "00305498" "1" "03640" "03640" "2020-06-26 16:52:16" "" "" "SEQ-NG" "DNA" "" "" "0000332792" "00331573" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407770" "00404909" "1" "04221" "04221" "2022-03-31 19:18:50" "04221" "2022-04-21 20:35:54" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000407772" "00406527" "1" "04221" "04221" "2022-03-31 19:43:13" "04221" "2022-04-21 20:40:39" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000407774" "00406530" "1" "04221" "04221" "2022-03-31 20:04:43" "04221" "2022-04-21 20:48:53" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000409722" "00408464" "1" "04221" "04221" "2022-04-21 17:52:58" "04221" "2022-04-21 20:43:23" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000409729" "00408466" "1" "04221" "04221" "2022-04-21 20:20:39" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000409812" "00408552" "1" "04221" "04221" "2022-04-22 18:16:18" "04221" "2022-04-22 20:02:03" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410253" "00408988" "1" "04221" "04221" "2022-04-29 18:51:48" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000435121" "00433663" "1" "03544" "03544" "2023-03-12 20:07:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000436585" "00435113" "1" "01741" "01741" "2023-05-14 15:08:34" "" "" "SEQ" "DNA" "" "" "0000451308" "00449717" "1" "01741" "01741" "2024-05-03 14:11:12" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 298 "{{screeningid}}" "{{geneid}}" "0000050400" "TCOF1" "0000284087" "TCOF1" "0000284088" "TCOF1" "0000284089" "TCOF1" "0000284090" "TCOF1" "0000284091" "TCOF1" "0000284092" "TCOF1" "0000284093" "TCOF1" "0000284094" "TCOF1" "0000284095" "TCOF1" "0000284096" "TCOF1" "0000284097" "TCOF1" "0000284098" "TCOF1" "0000284099" "TCOF1" "0000284100" "TCOF1" "0000284101" "TCOF1" "0000284102" "TCOF1" "0000284103" "TCOF1" "0000284104" "TCOF1" "0000284105" "TCOF1" "0000284106" "TCOF1" "0000284107" "TCOF1" "0000284108" "TCOF1" "0000284109" "TCOF1" "0000284110" "TCOF1" "0000284111" "TCOF1" "0000284112" "TCOF1" "0000284113" "TCOF1" "0000284114" "TCOF1" "0000284115" "TCOF1" "0000284116" "TCOF1" "0000284117" "TCOF1" "0000284118" "TCOF1" "0000284119" "TCOF1" "0000284120" "TCOF1" "0000284121" "TCOF1" "0000284122" "TCOF1" "0000284123" "TCOF1" "0000284124" "TCOF1" "0000284125" "TCOF1" "0000284126" "TCOF1" "0000284127" "TCOF1" "0000284128" "TCOF1" "0000284129" "TCOF1" "0000284130" "TCOF1" "0000284131" "TCOF1" "0000284132" "TCOF1" "0000284133" "TCOF1" "0000284134" "TCOF1" "0000284135" "TCOF1" "0000284136" "TCOF1" "0000284137" "TCOF1" "0000284138" "TCOF1" "0000284139" "TCOF1" "0000284140" "TCOF1" "0000284141" "TCOF1" "0000284142" "TCOF1" "0000284143" "TCOF1" "0000284144" "TCOF1" "0000284145" "TCOF1" "0000284146" "TCOF1" "0000284147" "TCOF1" "0000284148" "TCOF1" "0000284149" "TCOF1" "0000284150" "TCOF1" "0000284151" "TCOF1" "0000284152" "TCOF1" "0000284153" "TCOF1" "0000284154" "TCOF1" "0000284155" "TCOF1" "0000284156" "TCOF1" "0000284157" "TCOF1" "0000284158" "TCOF1" "0000284159" "TCOF1" "0000284160" "TCOF1" "0000284161" "TCOF1" "0000284162" "TCOF1" "0000284163" "TCOF1" "0000284164" "TCOF1" "0000284165" "TCOF1" "0000284166" "TCOF1" "0000284167" "TCOF1" "0000284168" "TCOF1" "0000284169" "TCOF1" "0000284170" "TCOF1" "0000284171" "TCOF1" "0000284172" "TCOF1" "0000284173" "TCOF1" "0000284174" "TCOF1" "0000284175" "TCOF1" "0000284176" "TCOF1" "0000284177" "TCOF1" "0000284178" "TCOF1" "0000284179" "TCOF1" "0000284180" "TCOF1" "0000284181" "TCOF1" "0000284182" "TCOF1" "0000284183" "TCOF1" "0000284184" "TCOF1" "0000284185" "TCOF1" "0000284186" "TCOF1" "0000284187" "TCOF1" "0000284188" "TCOF1" "0000284189" "TCOF1" "0000284190" "TCOF1" "0000284191" "TCOF1" "0000284192" "TCOF1" "0000284193" "TCOF1" "0000284194" "TCOF1" "0000284195" "TCOF1" "0000284196" "TCOF1" "0000284197" "TCOF1" "0000284198" "TCOF1" "0000284199" "TCOF1" "0000284200" "TCOF1" "0000284201" "TCOF1" "0000284202" "TCOF1" "0000284203" "TCOF1" "0000284204" "TCOF1" "0000284205" "TCOF1" "0000284206" "TCOF1" "0000284207" "TCOF1" "0000284208" "TCOF1" "0000284209" "TCOF1" "0000284210" "TCOF1" "0000284211" "TCOF1" "0000284212" "TCOF1" "0000284213" "TCOF1" "0000284214" "TCOF1" "0000284215" "TCOF1" "0000284216" "TCOF1" "0000284217" "TCOF1" "0000284218" "TCOF1" "0000284219" "TCOF1" "0000284220" "TCOF1" "0000284221" "TCOF1" "0000284222" "TCOF1" "0000284223" "TCOF1" "0000284224" "TCOF1" "0000284225" "TCOF1" "0000284226" "TCOF1" "0000284227" "TCOF1" "0000284228" "TCOF1" "0000284229" "TCOF1" "0000284230" "TCOF1" "0000284231" "TCOF1" "0000284232" "TCOF1" "0000284233" "TCOF1" "0000284234" "TCOF1" "0000284235" "TCOF1" "0000284236" "TCOF1" "0000284237" "TCOF1" "0000284238" "TCOF1" "0000284239" "TCOF1" "0000284240" "TCOF1" "0000284241" "TCOF1" "0000284242" "TCOF1" "0000284243" "TCOF1" "0000284244" "TCOF1" "0000284245" "TCOF1" "0000284246" "TCOF1" "0000284247" "TCOF1" "0000284248" "TCOF1" "0000284249" "TCOF1" "0000284250" "TCOF1" "0000284251" "TCOF1" "0000284252" "TCOF1" "0000284253" "TCOF1" "0000284254" "TCOF1" "0000284255" "TCOF1" "0000284256" "TCOF1" "0000284257" "TCOF1" "0000284258" "TCOF1" "0000284259" "TCOF1" "0000284260" "TCOF1" "0000284261" "TCOF1" "0000284262" "TCOF1" "0000284263" "TCOF1" "0000284264" "TCOF1" "0000284265" "TCOF1" "0000284266" "TCOF1" "0000284267" "TCOF1" "0000284268" "TCOF1" "0000284269" "TCOF1" "0000284270" "TCOF1" "0000284271" "TCOF1" "0000284272" "TCOF1" "0000284273" "TCOF1" "0000284274" "TCOF1" "0000284275" "TCOF1" "0000284276" "TCOF1" "0000284277" "TCOF1" "0000284278" "TCOF1" "0000284279" "TCOF1" "0000284280" "TCOF1" "0000284281" "TCOF1" "0000284282" "TCOF1" "0000284283" "TCOF1" "0000284284" "TCOF1" "0000284285" "TCOF1" "0000284286" "TCOF1" "0000284287" "TCOF1" "0000284288" "TCOF1" "0000284289" "TCOF1" "0000284290" "TCOF1" "0000284291" "TCOF1" "0000284292" "TCOF1" "0000284293" "TCOF1" "0000284294" "TCOF1" "0000284295" "TCOF1" "0000284296" "TCOF1" "0000284297" "TCOF1" "0000284298" "TCOF1" "0000284299" "TCOF1" "0000284300" "TCOF1" "0000284301" "TCOF1" "0000284302" "TCOF1" "0000284303" "TCOF1" "0000284304" "TCOF1" "0000284305" "TCOF1" "0000284306" "TCOF1" "0000284307" "TCOF1" "0000284308" "TCOF1" "0000284309" "TCOF1" "0000284310" "TCOF1" "0000284311" "TCOF1" "0000284312" "TCOF1" "0000284313" "TCOF1" "0000284314" "TCOF1" "0000284315" "TCOF1" "0000284316" "TCOF1" "0000284317" "TCOF1" "0000284318" "TCOF1" "0000284319" "TCOF1" "0000284320" "TCOF1" "0000284321" "TCOF1" "0000284322" "TCOF1" "0000284323" "TCOF1" "0000284324" "TCOF1" "0000284325" "TCOF1" "0000284326" "TCOF1" "0000284327" "TCOF1" "0000284328" "TCOF1" "0000284329" "TCOF1" "0000284330" "TCOF1" "0000284331" "TCOF1" "0000284332" "TCOF1" "0000284333" "TCOF1" "0000284334" "TCOF1" "0000284335" "TCOF1" "0000284336" "TCOF1" "0000296680" "TCOF1" "0000296842" "TCOF1" "0000302329" "TCOF1" "0000306621" "TCOF1" "0000306622" "TCOF1" "0000306623" "TCOF1" "0000306624" "TCOF1" "0000306625" "TCOF1" "0000306627" "TCOF1" "0000332792" "TCOF1" "0000407770" "EYA1" "0000407770" "HOXA2" "0000407770" "SALL1" "0000407770" "TBX1" "0000407770" "TCOF1" "0000407772" "EYA1" "0000407772" "HOXA2" "0000407772" "SALL1" "0000407772" "TBX1" "0000407772" "TCOF1" "0000407774" "EYA1" "0000407774" "HOXA2" "0000407774" "SALL1" "0000407774" "TBX1" "0000407774" "TCOF1" "0000409722" "EYA1" "0000409722" "HOXA2" "0000409722" "SALL1" "0000409722" "TBX1" "0000409722" "TCOF1" "0000409729" "EYA1" "0000409729" "HOXA2" "0000409729" "SALL1" "0000409729" "TBX1" "0000409729" "TCOF1" "0000409812" "EYA1" "0000409812" "HOXA2" "0000409812" "SALL1" "0000409812" "TBX1" "0000409812" "TCOF1" "0000410253" "EYA1" "0000410253" "HOXA2" "0000410253" "SALL1" "0000410253" "TBX1" "0000410253" "TCOF1" "0000436585" "TCOF1" "0000451308" "TCOF1" ## 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 = 422 "{{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}}" "0000079380" "11" "90" "5" "149777935" "149777939" "del" "0" "00006" "TCOF1_000001" "g.149777935_149777939del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.150398372_150398376del" "" "pathogenic" "" "0000254929" "0" "30" "5" "149756101" "149756101" "subst" "0" "01943" "TCOF1_000070" "g.149756101A>G" "" "" "" "TCOF1(NM_001135243.1):c.2258A>G (p.Q753R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150376538A>G" "" "likely benign" "" "0000255228" "0" "30" "5" "149773123" "149773123" "subst" "0.00124331" "01943" "TCOF1_000024" "g.149773123A>G" "" "" "" "TCOF1(NM_001135243.1):c.3781+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150393560A>G" "" "likely benign" "" "0000311770" "0" "10" "5" "149776232" "149776232" "subst" "0.259831" "02325" "TCOF1_000026" "g.149776232C>T" "" "" "" "TCOF1(NM_001135243.2):c.4169C>T (p.A1390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150396669C>T" "" "benign" "" "0000314477" "0" "10" "5" "149754991" "149754991" "subst" "0.141644" "02326" "TCOF1_000012" "g.149754991C>T" "" "" "" "TCOF1(NM_001135243.1):c.1578C>T (p.P526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375428C>T" "" "benign" "" "0000316378" "0" "30" "5" "149740732" "149740732" "subst" "0.00211558" "01943" "TCOF1_000002" "g.149740732C>T" "" "" "" "TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150361169C>T" "" "likely benign" "" "0000316379" "0" "30" "5" "149754365" "149754365" "subst" "0.00183932" "01943" "TCOF1_000011" "g.149754365G>A" "" "" "" "TCOF1(NM_001135243.1):c.1269G>A (p.A423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374802G>A" "" "likely benign" "" "0000316380" "0" "30" "5" "149755362" "149755362" "subst" "0.00754283" "01943" "TCOF1_000013" "g.149755362G>A" "" "" "" "TCOF1(NM_000356.3):c.1552G>A (p.(Val518Ile)), TCOF1(NM_001135243.1):c.1783G>A (p.V595I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375799G>A" "" "likely benign" "" "0000316381" "0" "30" "5" "149743806" "149743806" "subst" "0.00271379" "01943" "TCOF1_000004" "g.149743806G>A" "" "" "" "TCOF1(NM_000356.3):c.295G>A (p.(Ala99Thr)), TCOF1(NM_001135243.1):c.295G>A (p.A99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150364243G>A" "" "likely benign" "" "0000316382" "0" "30" "5" "149771561" "149771561" "subst" "0.000820385" "01943" "TCOF1_000021" "g.149771561G>A" "" "" "" "TCOF1(NM_001135243.1):c.3339G>A (p.Q1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150391998G>A" "" "likely benign" "" "0000330676" "0" "30" "5" "149743699" "149743699" "subst" "0.000125889" "01804" "TCOF1_000003" "g.149743699G>A" "" "" "" "TCOF1(NM_000356.3):c.188G>A (p.(Arg63Gln)), TCOF1(NM_001135243.1):c.188G>A (p.R63Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150364136G>A" "" "likely benign" "" "0000330677" "0" "30" "5" "149743806" "149743806" "subst" "0.00271379" "01804" "TCOF1_000004" "g.149743806G>A" "" "" "" "TCOF1(NM_000356.3):c.295G>A (p.(Ala99Thr)), TCOF1(NM_001135243.1):c.295G>A (p.A99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150364243G>A" "" "likely benign" "" "0000330679" "0" "50" "5" "149751653" "149751653" "subst" "7.71918E-5" "01804" "TCOF1_000006" "g.149751653C>T" "" "" "" "TCOF1(NM_001008657.2):c.724C>T (p.(Pro242Ser)), TCOF1(NM_001135243.2):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150372090C>T" "" "VUS" "" "0000330680" "0" "50" "5" "149753849" "149753849" "subst" "4.70796E-6" "01804" "TCOF1_000007" "g.149753849C>G" "" "" "" "TCOF1(NM_000356.3):c.752C>G (p.(Ser251Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374286C>G" "" "VUS" "" "0000330681" "0" "30" "5" "149753894" "149753894" "subst" "0.00235133" "01804" "TCOF1_000008" "g.149753894G>A" "" "" "" "TCOF1(NM_000356.3):c.797G>A (p.(Ser266Asn)), TCOF1(NM_001135243.1):c.1028G>A (p.S343N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374331G>A" "" "likely benign" "" "0000330682" "0" "50" "5" "149754216" "149754216" "subst" "0.000899384" "01804" "TCOF1_000009" "g.149754216G>T" "" "" "" "TCOF1(NM_000356.3):c.889G>T (p.(Ala297Ser)), TCOF1(NM_001135243.1):c.1120G>T (p.A374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374653G>T" "" "VUS" "" "0000330683" "0" "50" "5" "149754220" "149754220" "subst" "5.72181E-5" "01804" "TCOF1_000010" "g.149754220C>T" "" "" "" "TCOF1(NM_000356.3):c.893C>T (p.(Ser298Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374657C>T" "" "VUS" "" "0000330684" "0" "50" "5" "149755368" "149755368" "subst" "8.53007E-5" "01804" "TCOF1_000014" "g.149755368G>A" "" "" "" "TCOF1(NM_000356.3):c.1558G>A (p.(Val520Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375805G>A" "" "VUS" "" "0000330685" "0" "50" "5" "149755730" "149755730" "subst" "6.09915E-5" "01804" "TCOF1_000015" "g.149755730G>A" "" "" "" "TCOF1(NM_000356.3):c.1748G>A (p.(Arg583Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150376167G>A" "" "VUS" "" "0000330686" "0" "50" "5" "149758543" "149758543" "subst" "2.03059E-5" "01804" "TCOF1_000017" "g.149758543A>C" "" "" "" "TCOF1(NM_000356.3):c.2185A>C (p.(Ile729Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150378980A>C" "" "VUS" "" "0000330687" "0" "50" "5" "149759127" "149759127" "subst" "4.06349E-6" "01804" "TCOF1_000018" "g.149759127A>C" "" "" "" "TCOF1(NM_000356.3):c.2460A>C (p.(Arg820Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150379564A>C" "" "VUS" "" "0000330688" "0" "50" "5" "149769455" "149769455" "subst" "0" "01804" "TCOF1_000019" "g.149769455A>G" "" "" "" "TCOF1(NM_000356.3):c.2821A>G (p.(Arg941Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150389892A>G" "" "VUS" "" "0000330689" "0" "50" "5" "149771206" "149771206" "subst" "0" "01804" "TCOF1_000020" "g.149771206C>T" "" "" "" "TCOF1(NM_001135243.1):c.3283C>T (p.(Gln1095Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150391643C>T" "" "VUS" "" "0000330691" "0" "30" "5" "149776067" "149776067" "subst" "0.00869212" "01804" "TCOF1_000025" "g.149776067A>G" "" "" "" "TCOF1(NM_000356.3):c.3773A>G (p.(Lys1258Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150396504A>G" "" "likely benign" "" "0000330693" "0" "30" "5" "149777951" "149777953" "del" "0" "01804" "TCOF1_000028" "g.149777951_149777953del" "" "" "" "TCOF1(NM_000356.3):c.4146_4148del (p.(Lys1383del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150398388_150398390del" "" "likely benign" "" "0000330694" "0" "50" "5" "149782836" "149782836" "subst" "0.000397973" "01804" "CD74_000001" "g.149782836G>A" "" "" "" "CD74(NM_001025159.2):c.665C>T (p.(Ala222Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150403273G>A" "" "VUS" "" "0000330695" "0" "30" "5" "149782840" "149782840" "subst" "0.000783775" "01804" "CD74_000002" "g.149782840G>A" "" "" "" "CD74(NM_001025159.2):c.661C>T (p.(Pro221Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150403277G>A" "" "likely benign" "" "0000337235" "0" "10" "5" "149737221" "149737221" "subst" "0" "02327" "TCOF1_000029" "g.149737221T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150357658T>G" "" "benign" "" "0000337236" "0" "90" "5" "149740775" "149740775" "subst" "0" "02327" "TCOF1_000033" "g.149740775G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150361212G>A" "" "pathogenic" "" "0000337237" "0" "10" "5" "149779363" "149779363" "subst" "0" "02327" "TCOF1_000068" "g.149779363C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150399800C>T" "" "benign" "" "0000339467" "0" "10" "5" "149754991" "149754991" "subst" "0.141644" "02327" "TCOF1_000012" "g.149754991C>T" "" "" "" "TCOF1(NM_001135243.1):c.1578C>T (p.P526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375428C>T" "" "benign" "" "0000339468" "0" "10" "5" "149755084" "149755084" "subst" "0.00130442" "02327" "TCOF1_000043" "g.149755084T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375521T>C" "" "benign" "" "0000339469" "0" "10" "5" "149755421" "149755421" "subst" "0.142753" "02327" "TCOF1_000046" "g.149755421A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150375858A>G" "" "benign" "" "0000339470" "0" "90" "5" "149758605" "149758605" "subst" "0" "02327" "TCOF1_000049" "g.149758605G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150379042G>A" "" "pathogenic" "" "0000341164" "0" "10" "5" "149776232" "149776232" "subst" "0.259831" "02327" "TCOF1_000026" "g.149776232C>T" "" "" "" "TCOF1(NM_001135243.2):c.4169C>T (p.A1390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150396669C>T" "" "benign" "" "0000341409" "0" "30" "5" "149754216" "149754216" "subst" "0.000899384" "02327" "TCOF1_000009" "g.149754216G>T" "" "" "" "TCOF1(NM_000356.3):c.889G>T (p.(Ala297Ser)), TCOF1(NM_001135243.1):c.1120G>T (p.A374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374653G>T" "" "likely benign" "" "0000341434" "0" "30" "5" "149740732" "149740732" "subst" "0.00211558" "02327" "TCOF1_000002" "g.149740732C>T" "" "" "" "TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150361169C>T" "" "likely benign" "" "0000341543" "0" "10" "5" "149755744" "149755744" "subst" "0.0693377" "02327" "TCOF1_000047" "g.149755744G>C" "" "" "" "TCOF1(NM_001135243.1):c.1993G>C (p.A665P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150376181G>C" "" "benign" "" "0000343603" "0" "30" "5" "149748349" "149748349" "subst" "6.0937E-5" "02327" "TCOF1_000035" "g.149748349A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150368786A>G" "" "likely benign" "" "0000344970" "0" "90" "5" "149758492" "149758492" "subst" "0" "02327" "TCOF1_000048" "g.149758492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150378929C>T" "" "pathogenic" "" "0000345131" "0" "90" "5" "149776318" "149776318" "subst" "0" "02327" "TCOF1_000061" "g.149776318G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150396755G>T" "" "pathogenic" "" "0000345723" "0" "10" "5" "149776355" "149776355" "subst" "0.018438" "02327" "TCOF1_000062" "g.149776355G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150396792G>C" "" "benign" "" "0000347421" "0" "90" "5" "149777973" "149777973" "subst" "0" "02327" "TCOF1_000067" "g.149777973A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150398410A>T" "" "pathogenic" "" "0000347684" "0" "90" "5" "149737312" "149737312" "subst" "0" "02327" "TCOF1_000030" "g.149737312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150357749G>A" "" "pathogenic" "" "0000348148" "0" "10" "5" "149772280" "149772280" "subst" "0.168477" "02327" "TCOF1_000022" "g.149772280C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150392717C>G" "" "benign" "" "0000348567" "0" "10" "5" "149756031" "149756031" "subst" "0.000670372" "02327" "TCOF1_000016" "g.149756031C>T" "" "" "" "TCOF1(NM_000356.3):c.1957C>T (p.(Pro653Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150376468C>T" "" "benign" "" "0000348966" "0" "50" "5" "149754220" "149754220" "subst" "5.72181E-5" "02327" "TCOF1_000010" "g.149754220C>T" "" "" "" "TCOF1(NM_000356.3):c.893C>T (p.(Ser298Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150374657C>T" "" "VUS" "" "0000349229" "0" "30" "5" "149767574" "149767574" "subst" "2.04192E-5" "02327" "TCOF1_000054" "g.149767574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150388011C>T" "" "likely benign" "" "0000350120" "0" "90" "5" "149740759" "149740759" "subst" "0" "02327" "TCOF1_000031" "g.149740759A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150361196A>G" "" "pathogenic" "" "0000350121" "0" "90" "5" "149740759" "149740759" "subst" "0" "02327" "TCOF1_000032" "g.149740759A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150361196A>C" "" "pathogenic" "" "0000350684" "0" "10" "5" "149759096" "149759096" "subst" "0.142779" "02327" "TCOF1_000052" "g.149759096T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150379533T>C" "" "benign" "" "0000350930" "0" "90" "5" "149749091" "149749091" "subst" "0" "02327" "TCOF1_000037" "g.149749091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150369528G>A" "" "pathogenic" "" "0000350931" "0" "90" "5" "149759094" "149759094" "subst" "0" "02327" "TCOF1_000051" "g.149759094G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150379531G>A" "" "pathogenic" "" "0000350932" "0" "70" "5" "149769586" "149769586" "subst" "0" "02327" "TCOF1_000055" "g.149769586G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150390023G>A" "" "likely pathogenic" "" "0000524928" "0" "30" "5" "149740732" "149740732" "subst" "0.00211558" "01804" "TCOF1_000002" "g.149740732C>T" "" "" "" "TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150361169C>T" "" "likely benign" "" "0000524929" "0" "30" "5" "149740732" "149740732" "subst" "0.00211558" "02325" "TCOF1_000002" "g.149740732C>T" "" "" "" "TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150361169C>T" "" "likely benign" "" "0000524930" "0" "30" "5" "149740772" "149740772" "subst" "0.00245265" "01804" "TCOF1_000071" "g.149740772A>G" "" "" "" "TCOF1(NM_000356.3):c.162A>G (p.(Gln54=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150361209A>G" "" "likely benign" "" "0000524931" "0" "30" "5" "149743699" "149743699" "subst" "0.000125889" "01943" "TCOF1_000003" "g.149743699G>A" "" "" "" "TCOF1(NM_000356.3):c.188G>A (p.(Arg63Gln)), TCOF1(NM_001135243.1):c.188G>A (p.R63Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150364136G>A" "" "likely benign" "" "0000524932" "0" "30" "5" "149748403" "149748403" "subst" "0.000540826" "01804" "TCOF1_000072" "g.149748403C>T" "" "" "" "TCOF1(NM_000356.3):c.503C>T (p.(Thr168Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150368840C>T" "" "likely benign" "" "0000524933" "0" "10" "5" "149749105" "149749105" "subst" "0.00125539" "01943" "TCOF1_000073" "g.149749105G>A" "" "" "" "TCOF1(NM_001135243.1):c.579G>A (p.A193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150369542G>A" "" "benign" "" "0000524935" "0" "50" "5" "149751756" "149751773" "del" "0" "01943" "TCOF1_000075" "g.149751756_149751773del" "" "" "" "TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150372193_150372210del" "" "VUS" "" "0000524936" "0" "30" "5" "149751756" "149751773" "del" "0" "01804" "TCOF1_000075" "g.149751756_149751773del" "" "" "" "TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150372193_150372210del" "" "likely benign" "" "0000524937" "0" "30" "5" "149753865" "149753865" "subst" "0.00157746" "01943" "TCOF1_000076" "g.149753865G>A" "" "" "" "TCOF1(NM_001135243.1):c.999G>A (p.G333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374302G>A" "" "likely benign" "" "0000524938" "0" "30" "5" "149753894" "149753894" "subst" "0.00235133" "01943" "TCOF1_000008" "g.149753894G>A" "" "" "" "TCOF1(NM_000356.3):c.797G>A (p.(Ser266Asn)), TCOF1(NM_001135243.1):c.1028G>A (p.S343N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374331G>A" "" "likely benign" "" "0000524940" "0" "30" "5" "149754182" "149754182" "subst" "1.23017E-5" "01804" "TCOF1_000078" "g.149754182G>A" "" "" "" "TCOF1(NM_000356.3):c.855G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374619G>A" "" "likely benign" "" "0000524941" "0" "30" "5" "149754312" "149754312" "subst" "2.86294E-5" "01943" "TCOF1_000079" "g.149754312C>T" "" "" "" "TCOF1(NM_000356.3):c.985C>T (p.(Arg329Trp)), TCOF1(NM_001135243.1):c.1216C>T (p.R406W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374749C>T" "" "likely benign" "" "0000524942" "0" "30" "5" "149754325" "149754325" "subst" "0.0029411" "01804" "TCOF1_000080" "g.149754325C>T" "" "" "" "TCOF1(NM_000356.3):c.998C>T (p.(Ser333Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374762C>T" "" "likely benign" "" "0000524943" "0" "30" "5" "149754519" "149754519" "subst" "0.00279435" "01943" "TCOF1_000081" "g.149754519G>A" "" "" "" "TCOF1(NM_000356.3):c.1050G>A (p.(Ala350=)), TCOF1(NM_001135243.1):c.1281G>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374956G>A" "" "likely benign" "" "0000524944" "0" "30" "5" "149754519" "149754519" "subst" "0.00279435" "01804" "TCOF1_000081" "g.149754519G>A" "" "" "" "TCOF1(NM_000356.3):c.1050G>A (p.(Ala350=)), TCOF1(NM_001135243.1):c.1281G>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374956G>A" "" "likely benign" "" "0000524945" "0" "50" "5" "149754960" "149754960" "subst" "0.000386487" "01943" "TCOF1_000082" "g.149754960C>T" "" "" "" "TCOF1(NM_001135243.1):c.1547C>T (p.P516L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150375397C>T" "" "VUS" "" "0000524946" "0" "30" "5" "149754974" "149754974" "subst" "4.06623E-6" "01804" "TCOF1_000083" "g.149754974G>A" "" "" "" "TCOF1(NM_000356.3):c.1330G>A (p.(Ala444Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150375411G>A" "" "likely benign" "" "0000524948" "0" "30" "5" "149755362" "149755362" "subst" "0.00754283" "01804" "TCOF1_000013" "g.149755362G>A" "" "" "" "TCOF1(NM_000356.3):c.1552G>A (p.(Val518Ile)), TCOF1(NM_001135243.1):c.1783G>A (p.V595I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150375799G>A" "" "likely benign" "" "0000524949" "0" "30" "5" "149755443" "149755443" "subst" "0.000182863" "01804" "TCOF1_000085" "g.149755443G>A" "" "" "" "TCOF1(NM_000356.3):c.1633G>A (p.(Glu545Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150375880G>A" "" "likely benign" "" "0000524950" "0" "30" "5" "149755744" "149755744" "subst" "0.0693377" "02326" "TCOF1_000047" "g.149755744G>C" "" "" "" "TCOF1(NM_001135243.1):c.1993G>C (p.A665P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150376181G>C" "" "likely benign" "" "0000524952" "0" "30" "5" "149756031" "149756031" "subst" "0.000670372" "01804" "TCOF1_000016" "g.149756031C>T" "" "" "" "TCOF1(NM_000356.3):c.1957C>T (p.(Pro653Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150376468C>T" "" "likely benign" "" "0000524953" "0" "30" "5" "149756088" "149756088" "subst" "0.00238518" "01804" "TCOF1_000087" "g.149756088C>T" "" "" "" "TCOF1(NM_000356.3):c.2014C>T (p.(Pro672Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150376525C>T" "" "likely benign" "" "0000524954" "0" "30" "5" "149758828" "149758828" "subst" "0.000162434" "01943" "TCOF1_000088" "g.149758828G>A" "" "" "" "TCOF1(NM_001135243.1):c.2515G>A (p.V839I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150379265G>A" "" "likely benign" "" "0000524955" "0" "30" "5" "149758936" "149758953" "del" "0" "01804" "TCOF1_000089" "g.149758936_149758953del" "" "" "" "TCOF1(NM_001371623.1):c.2623_2640del (p.(Ser875_Glu880del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150379373_150379390del" "" "likely benign" "" "0000524956" "0" "10" "5" "149759198" "149759198" "subst" "0.0011745" "01943" "TCOF1_000090" "g.149759198C>T" "" "" "" "TCOF1(NM_000356.3):c.2531C>T (p.(Pro844Leu)), TCOF1(NM_001135243.1):c.2762C>T (p.P921L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150379635C>T" "" "benign" "" "0000524957" "0" "30" "5" "149759201" "149759201" "subst" "0.00676335" "01804" "TCOF1_000091" "g.149759201C>T" "" "" "" "TCOF1(NM_000356.3):c.2534C>T (p.(Ser845Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150379638C>T" "" "likely benign" "" "0000524958" "0" "10" "5" "149759278" "149759278" "subst" "0.00142521" "01943" "TCOF1_000092" "g.149759278G>T" "" "" "" "TCOF1(NM_001135243.1):c.2842G>T (p.A948S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150379715G>T" "" "benign" "" "0000524960" "0" "30" "5" "149772954" "149772954" "subst" "0.00116964" "01804" "TCOF1_000094" "g.149772954T>A" "" "" "" "TCOF1(NM_000356.3):c.3389T>A (p.(Met1130Lys)), TCOF1(NM_001135243.1):c.3620T>A (p.M1207K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150393391T>A" "" "likely benign" "" "0000524961" "0" "90" "5" "149775843" "149775843" "subst" "0" "01943" "TCOF1_000095" "g.149775843A>G" "" "" "" "TCOF1(NM_001135243.1):c.3782-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150396280A>G" "" "pathogenic" "" "0000524962" "0" "30" "5" "149775942" "149775942" "subst" "0" "02327" "TCOF1_000096" "g.149775942C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150396379C>T" "" "likely benign" "" "0000524963" "0" "30" "5" "149776159" "149776159" "subst" "0.00067578" "01943" "TCOF1_000097" "g.149776159A>C" "" "" "" "TCOF1(NM_001135243.1):c.4096A>C (p.K1366Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150396596A>C" "" "likely benign" "" "0000524966" "0" "30" "5" "149776392" "149776394" "del" "0" "01943" "TCOF1_000063" "g.149776392_149776394del" "" "" "" "TCOF1(NM_000356.3):c.4098_4100del (p.(Lys1367del)), TCOF1(NM_001135243.1):c.4329_4331delGAA (p.K1444del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150396829_150396831del" "" "likely benign" "" "0000524967" "0" "30" "5" "149776392" "149776394" "del" "0" "01804" "TCOF1_000063" "g.149776392_149776394del" "" "" "" "TCOF1(NM_000356.3):c.4098_4100del (p.(Lys1367del)), TCOF1(NM_001135243.1):c.4329_4331delGAA (p.K1444del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150396829_150396831del" "" "likely benign" "" "0000524968" "0" "90" "5" "149777943" "149777947" "del" "0" "02329" "TCOF1_000066" "g.149777943_149777947del" "" "" "" "TCOF1(NM_001135243.2):c.4369_4373delAAGAA (p.K1457Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150398380_150398384del" "" "pathogenic" "" "0000609588" "0" "90" "5" "149753851" "149753851" "subst" "0" "02327" "TCOF1_000098" "g.149753851C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150374288C>T" "" "pathogenic" "" "0000609589" "0" "30" "5" "149754700" "149754700" "subst" "0" "01804" "TCOF1_000099" "g.149754700G>A" "" "" "" "TCOF1(NM_000356.3):c.1231G>A (p.(Ala411Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150375137G>A" "" "likely benign" "" "0000609590" "0" "30" "5" "149755746" "149755746" "subst" "0" "01943" "TCOF1_000100" "g.149755746C>G" "" "" "" "TCOF1(NM_001135243.1):c.1995C>G (p.A665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150376183C>G" "" "likely benign" "" "0000639829" "1" "33" "5" "149737251" "149737251" "subst" "0" "00004" "TCOF1_000101" "g.149737251G>A" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357688G>A" "" "likely benign" "" "0000639830" "1" "99" "5" "149737310" "149737310" "subst" "0" "00004" "TCOF1_000102" "g.149737310A>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357747A>T" "" "pathogenic" "" "0000639831" "1" "99" "5" "149737312" "149737312" "subst" "0" "00004" "TCOF1_000030" "g.149737312G>A" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357749G>A" "" "pathogenic" "" "0000639832" "1" "99" "5" "149737337" "149737337" "del" "0" "00004" "TCOF1_000103" "g.149737337del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357774del" "" "pathogenic" "" "0000639833" "1" "99" "5" "149737349" "149737349" "subst" "0" "00004" "TCOF1_000104" "g.149737349A>T" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357786A>T" "" "pathogenic" "" "0000639834" "1" "99" "5" "149737350" "149737350" "del" "0" "00004" "TCOF1_000105" "g.149737350del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357787del" "" "pathogenic" "" "0000639835" "1" "99" "5" "149737351" "149737351" "subst" "0" "00004" "TCOF1_000106" "g.149737351C>G" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357788C>G" "" "pathogenic" "" "0000639836" "1" "99" "5" "149737357" "149737359" "del" "0" "00004" "TCOF1_000107" "g.149737357_149737359del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357794_150357796del" "" "pathogenic" "" "0000639837" "1" "99" "5" "149737359" "149737359" "subst" "0" "00004" "TCOF1_000108" "g.149737359A>G" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357796A>G" "" "pathogenic" "" "0000639838" "1" "99" "5" "149737370" "149737370" "del" "0" "00004" "TCOF1_000109" "g.149737370del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357807del" "" "pathogenic" "" "0000639839" "1" "99" "5" "149737370" "149737370" "subst" "0" "00004" "TCOF1_000110" "g.149737370G>C" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357807G>C" "" "pathogenic" "" "0000639840" "1" "99" "5" "149737386" "149737386" "subst" "0" "00004" "TCOF1_000111" "g.149737386C>T" "" "{DB:DVD}, {PMID:Fujioka 2008:19067896}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357823C>T" "" "pathogenic" "" "0000639841" "1" "99" "5" "149737388" "149737388" "subst" "0" "00004" "TCOF1_000112" "g.149737388G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357825G>A" "" "pathogenic" "" "0000639842" "1" "99" "5" "149737396" "149737396" "del" "0" "00004" "TCOF1_000113" "g.149737396del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357833del" "" "pathogenic" "" "0000639843" "1" "99" "5" "149737415" "149737415" "subst" "0" "00004" "TCOF1_000114" "g.149737415C>T" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150357852C>T" "" "pathogenic" "" "0000639844" "1" "99" "5" "149740717" "149740717" "subst" "0" "00004" "TCOF1_000115" "g.149740717A>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361154A>T" "" "pathogenic" "" "0000639845" "1" "99" "5" "149740718" "149740718" "del" "0" "00004" "TCOF1_000116" "g.149740718del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361155del" "" "pathogenic" "" "0000639846" "1" "99" "5" "149740759" "149740759" "subst" "0" "00004" "TCOF1_000031" "g.149740759A>G" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361196A>G" "" "pathogenic" "" "0000639847" "1" "99" "5" "149740767" "149740767" "subst" "0" "00004" "TCOF1_000117" "g.149740767T>C" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361204T>C" "" "pathogenic" "" "0000639848" "1" "99" "5" "149740769" "149740769" "subst" "0" "00004" "TCOF1_000118" "g.149740769G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361206G>A" "" "pathogenic" "" "0000639849" "1" "99" "5" "149740773" "149740773" "subst" "0" "00004" "TCOF1_000119" "g.149740773C>T" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150361210C>T" "" "pathogenic" "" "0000639850" "1" "99" "5" "149743729" "149743730" "ins" "0" "00004" "TCOF1_000120" "g.149743729_149743730insAACC" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150364166_150364167insAACC" "" "pathogenic" "" "0000639851" "1" "99" "5" "149743785" "149743785" "del" "0" "00004" "TCOF1_000121" "g.149743785del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150364222del" "" "pathogenic" "" "0000639852" "1" "99" "5" "149743788" "149743788" "subst" "0" "00004" "TCOF1_000122" "g.149743788G>T" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150364225G>T" "" "pathogenic" "" "0000639853" "1" "99" "5" "149743814" "149743815" "del" "0" "00004" "TCOF1_000123" "g.149743814_149743815del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150364251_150364252del" "" "pathogenic" "" "0000639854" "1" "99" "5" "149743820" "149743820" "subst" "4.06289E-6" "00004" "TCOF1_000124" "g.149743820G>C" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150364257G>C" "" "pathogenic" "" "0000639855" "1" "99" "5" "149747406" "149747406" "subst" "0" "00004" "TCOF1_000125" "g.149747406G>A" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150367843G>A" "" "pathogenic" "" "0000639856" "1" "99" "5" "149747445" "149747445" "del" "0" "00004" "TCOF1_000126" "g.149747445del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150367882del" "" "pathogenic" "" "0000639857" "1" "99" "5" "149747459" "149747460" "del" "0" "00004" "TCOF1_000127" "g.149747459_149747460del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150367896_150367897del" "" "pathogenic" "" "0000639858" "1" "99" "5" "149747478" "149747495" "del" "0" "00004" "TCOF1_000128" "g.149747478_149747495del" "" "{DB:DVD}, {PMID:Marszalek 2003:14598341}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150367915_150367932del" "" "pathogenic" "" "0000639859" "1" "99" "5" "149748277" "149748277" "subst" "0" "00004" "TCOF1_000129" "g.149748277A>G" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368714A>G" "" "pathogenic" "" "0000639860" "1" "99" "5" "149748286" "149748287" "del" "0" "00004" "TCOF1_000130" "g.149748286_149748287del" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368723_150368724del" "" "pathogenic" "" "0000639861" "1" "99" "5" "149748289" "149748289" "dup" "0" "00004" "TCOF1_000131" "g.149748289dup" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368726dup" "" "pathogenic" "" "0000639862" "1" "99" "5" "149748290" "149748291" "del" "0" "00004" "TCOF1_000132" "g.149748290_149748291del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368727_150368728del" "" "pathogenic" "" "0000639863" "1" "99" "5" "149748305" "149748306" "del" "0" "00004" "TCOF1_000133" "g.149748305_149748306del" "" "{DB:DVD}, {PMID:Gladwin 1996:8894686}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368742_150368743del" "" "pathogenic" "" "0000639864" "1" "99" "5" "149748308" "149748308" "del" "0" "00004" "TCOF1_000134" "g.149748308del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368745del" "" "pathogenic" "" "0000639865" "1" "99" "5" "149748322" "149748322" "dup" "0" "00004" "TCOF1_000135" "g.149748322dup" "" "{DB:DVD}, {PMID:Wise 1997:9096354}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368759dup" "" "pathogenic" "" "0000639866" "1" "99" "5" "149748331" "149748331" "del" "0" "00004" "TCOF1_000136" "g.149748331del" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368768del" "" "pathogenic" "" "0000639867" "1" "99" "5" "149748375" "149748375" "subst" "0" "00004" "TCOF1_000137" "g.149748375A>T" "" "{DB:DVD}, {PMID:Fujioka 2008:19067896}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368812A>T" "" "pathogenic" "" "0000639868" "1" "99" "5" "149748397" "149748400" "del" "0" "00004" "TCOF1_000138" "g.149748397_149748400del" "" "{DB:DVD}, {PMID:Wise 1997:9096354}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368834_150368837del" "" "pathogenic" "" "0000639869" "1" "99" "5" "149748414" "149748415" "del" "0" "00004" "TCOF1_000139" "g.149748414_149748415del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368851_150368852del" "" "pathogenic" "" "0000639870" "1" "99" "5" "149748419" "149748419" "del" "0" "00004" "TCOF1_000140" "g.149748419del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368856del" "" "pathogenic" "" "0000639871" "1" "99" "5" "149748466" "149748466" "subst" "0" "00004" "TCOF1_000141" "g.149748466G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150368903G>A" "" "pathogenic" "" "0000639872" "1" "99" "5" "149749082" "149749082" "subst" "0" "00004" "TCOF1_000142" "g.149749082C>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369519C>A" "" "pathogenic" "" "0000639873" "1" "99" "5" "149749100" "149749115" "del" "0" "00004" "TCOF1_000143" "g.149749100_149749115del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369537_150369552del" "" "pathogenic" "" "0000639874" "1" "99" "5" "149749125" "149749125" "del" "0" "00004" "TCOF1_000144" "g.149749125del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369562del" "" "pathogenic" "" "0000639875" "1" "99" "5" "149749144" "149749144" "del" "0" "00004" "TCOF1_000145" "g.149749144del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369581del" "" "pathogenic" "" "0000639876" "1" "99" "5" "149749157" "149749158" "del" "0" "00004" "TCOF1_000146" "g.149749157_149749158del" "" "{DB:DVD}, {PMID:Gladwin 1996:8894686}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369594_150369595del" "" "pathogenic" "" "0000639877" "1" "99" "5" "149749166" "149749166" "subst" "0" "00004" "TCOF1_000147" "g.149749166G>A" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150369603G>A" "" "pathogenic" "" "0000639878" "1" "99" "5" "149751655" "149751655" "del" "0" "00004" "TCOF1_000148" "g.149751655del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150372092del" "" "pathogenic" "" "0000639879" "1" "99" "5" "149753755" "149753755" "del" "0" "00004" "TCOF1_000149" "g.149753755del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374192del" "" "pathogenic" "" "0000639880" "1" "99" "5" "149753798" "149753798" "del" "0" "00004" "TCOF1_000150" "g.149753798del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374235del" "" "pathogenic" "" "0000639881" "1" "99" "5" "149753817" "149753824" "del" "0" "00004" "TCOF1_000151" "g.149753817_149753824del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374254_150374261del" "" "pathogenic" "" "0000639882" "1" "99" "5" "149753825" "149753825" "dup" "0" "00004" "TCOF1_000040" "g.149753825dup" "" "{DB:DVD}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374262dup" "" "pathogenic" "" "0000639883" "1" "99" "5" "149753841" "149753841" "dup" "0" "00004" "TCOF1_000152" "g.149753841dup" "" "{DB:DVD}, {PMID:Horiuchi 2005:15759264}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374278dup" "" "pathogenic" "" "0000639884" "1" "99" "5" "149753851" "149753851" "subst" "0" "00004" "TCOF1_000098" "g.149753851C>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374288C>T" "" "pathogenic" "" "0000639885" "1" "99" "5" "149753882" "149753882" "subst" "0" "00004" "TCOF1_000153" "g.149753882C>G" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374319C>G" "" "pathogenic" "" "0000639886" "1" "99" "5" "149753883" "149753883" "del" "0" "00004" "TCOF1_000154" "g.149753883del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374320del" "" "pathogenic" "" "0000639887" "1" "99" "5" "149753887" "149753888" "del" "0" "00004" "TCOF1_000155" "g.149753887_149753888del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Schlump 2012:22729243}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374324_150374325del" "" "pathogenic" "" "0000639888" "1" "99" "5" "149753911" "149753911" "subst" "3.69017E-5" "00004" "TCOF1_000156" "g.149753911A>G" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374348A>G" "" "pathogenic" "" "0000639889" "1" "33" "5" "149754182" "149754182" "subst" "1.23017E-5" "00004" "TCOF1_000078" "g.149754182G>A" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374619G>A" "" "likely benign" "" "0000639890" "1" "99" "5" "149754191" "149754192" "del" "0" "00004" "TCOF1_000157" "g.149754191_149754192del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374628_150374629del" "" "pathogenic" "" "0000639891" "1" "99" "5" "149754192" "149754192" "subst" "0" "00004" "TCOF1_000158" "g.149754192G>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374629G>T" "" "pathogenic" "" "0000639892" "1" "33" "5" "149754338" "149754338" "subst" "3.31774E-5" "00004" "TCOF1_000159" "g.149754338C>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374775C>T" "" "likely benign" "" "0000639893" "1" "99" "5" "149754342" "149754342" "subst" "0" "00004" "TCOF1_000160" "g.149754342G>T" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374779G>T" "" "pathogenic" "" "0000639894" "1" "99" "5" "149754541" "149754541" "del" "0" "00004" "TCOF1_000161" "g.149754541del" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374978del" "" "pathogenic" "" "0000639895" "1" "99" "5" "149754541" "149754541" "dup" "0" "00004" "TCOF1_000162" "g.149754541dup" "" "{DB:DVD}, {PMID:Wang 2014:24994558}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374978dup" "" "pathogenic" "" "0000639896" "1" "99" "5" "149754553" "149754553" "subst" "2.0416E-5" "00004" "TCOF1_000163" "g.149754553G>A" "" "{DB:DVD}, {PMID:Su 2007:17786119}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150374990G>A" "" "pathogenic" "" "0000639897" "1" "99" "5" "149754567" "149754567" "del" "0" "00004" "TCOF1_000164" "g.149754567del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375004del" "" "pathogenic" "" "0000639898" "1" "99" "5" "149754568" "149754568" "subst" "0" "00004" "TCOF1_000165" "g.149754568A>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375005A>T" "" "pathogenic" "" "0000639899" "1" "99" "5" "149754579" "149754579" "dup" "0" "00004" "TCOF1_000166" "g.149754579dup" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375016dup" "" "pathogenic" "" "0000639900" "1" "99" "5" "149754589" "149754589" "del" "0" "00004" "TCOF1_000167" "g.149754589del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375026del" "" "pathogenic" "" "0000639901" "1" "99" "5" "149754633" "149754634" "ins" "0" "00004" "TCOF1_000168" "g.149754633_149754634insT" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375070_150375071insT" "" "pathogenic" "" "0000639902" "1" "99" "5" "149754684" "149754684" "dup" "0" "00004" "TCOF1_000169" "g.149754684dup" "" "{DB:DVD}, {PMID:Gladwin 1996:8894686}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375121dup" "" "pathogenic" "" "0000639903" "1" "99" "5" "149754711" "149754711" "dup" "0" "00004" "TCOF1_000170" "g.149754711dup" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375148dup" "" "pathogenic" "" "0000639904" "1" "99" "5" "149754931" "149754931" "dup" "0" "00004" "TCOF1_000171" "g.149754931dup" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375368dup" "" "pathogenic" "" "0000639905" "1" "99" "5" "149754970" "149754970" "dup" "0" "00004" "TCOF1_000172" "g.149754970dup" "" "{DB:DVD}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375407dup" "" "pathogenic" "" "0000639906" "1" "99" "5" "149754994" "149754994" "del" "0" "00004" "TCOF1_000173" "g.149754994del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375431del" "" "pathogenic" "" "0000639907" "1" "99" "5" "149755022" "149755022" "subst" "0" "00004" "TCOF1_000174" "g.149755022C>T" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375459C>T" "" "pathogenic" "" "0000639908" "1" "99" "5" "149755050" "149755053" "del" "0" "00004" "TCOF1_000175" "g.149755050_149755053del" "" "{DB:DVD}, {PMID:Caluseriu 2013:24108658}, {PMID:Lowry 1985:4061487}, {PMID:Katsanis 1993:20301704}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375487_150375490del" "" "pathogenic" "" "0000639909" "1" "99" "5" "149755052" "149755053" "del" "0" "00004" "TCOF1_000042" "g.149755052_149755053del" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Shoo 2004:15039977}, {PMID:Wise 1997:9096354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375489_150375490del" "" "pathogenic" "" "0000639910" "1" "99" "5" "149755071" "149755071" "subst" "0" "00004" "TCOF1_000176" "g.149755071C>G" "" "{DB:DVD}, {PMID:Wang 2014:24994558}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375508C>G" "" "pathogenic" "" "0000639911" "1" "99" "5" "149755085" "149755086" "dup" "0" "00004" "TCOF1_000177" "g.149755085_149755086dup" "" "{DB:DVD}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375522_150375523dup" "" "pathogenic" "" "0000639912" "1" "99" "5" "149755115" "149755115" "subst" "0" "00004" "TCOF1_000178" "g.149755115C>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375552C>T" "" "pathogenic" "" "0000639913" "1" "99" "5" "149755308" "149755308" "subst" "0" "00004" "TCOF1_000179" "g.149755308C>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375745C>T" "" "pathogenic" "" "0000639914" "1" "99" "5" "149755361" "149755367" "del" "0" "00004" "TCOF1_000180" "g.149755361_149755367del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375798_150375804del" "" "pathogenic" "" "0000639915" "1" "99" "5" "149755362" "149755362" "del" "0" "00004" "TCOF1_000181" "g.149755362del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375799del" "" "pathogenic" "" "0000639916" "1" "99" "5" "149755375" "149755375" "subst" "0" "00004" "TCOF1_000182" "g.149755375T>C" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375812T>C" "" "pathogenic" "" "0000639917" "1" "99" "5" "149755392" "149755393" "del" "0" "00004" "TCOF1_000183" "g.149755392_149755393del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375829_150375830del" "" "pathogenic" "" "0000639918" "1" "99" "5" "149755416" "149755416" "del" "0" "00004" "TCOF1_000184" "g.149755416del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375853del" "" "pathogenic" "" "0000639919" "1" "33" "5" "149755433" "149755433" "subst" "7.72E-5" "00004" "TCOF1_000185" "g.149755433G>A" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150375870G>A" "" "likely benign" "" "0000639920" "1" "99" "5" "149755658" "149755658" "del" "0" "00004" "TCOF1_000186" "g.149755658del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376095del" "" "pathogenic" "" "0000639921" "1" "99" "5" "149755669" "149755669" "subst" "0" "00004" "TCOF1_000187" "g.149755669C>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376106C>T" "" "pathogenic" "" "0000639922" "1" "99" "5" "149755703" "149755707" "del" "0" "00004" "TCOF1_000188" "g.149755703_149755707del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376140_150376144del" "" "pathogenic" "" "0000639923" "1" "33" "5" "149755704" "149755704" "subst" "0" "00004" "TCOF1_000189" "g.149755704T>C" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376141T>C" "" "likely benign" "" "0000639924" "1" "99" "5" "149755724" "149755724" "del" "0" "00004" "TCOF1_000190" "g.149755724del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376161del" "" "pathogenic" "" "0000639925" "1" "99" "5" "149755724" "149755724" "dup" "0" "00004" "TCOF1_000191" "g.149755724dup" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376161dup" "" "pathogenic" "" "0000639926" "1" "99" "5" "149755729" "149755729" "subst" "0" "00004" "TCOF1_000192" "g.149755729C>T" "" "{DB:DVD}, {PMID:Horiuchi 2005:15759264}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376166C>T" "" "pathogenic" "" "0000639927" "1" "99" "5" "149755744" "149755744" "del" "0" "00004" "TCOF1_000193" "g.149755744del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376181del" "" "pathogenic" "" "0000639928" "1" "99" "5" "149755750" "149755750" "dup" "0" "00004" "TCOF1_000194" "g.149755750dup" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376187dup" "" "pathogenic" "" "0000639929" "1" "99" "5" "149755784" "149755784" "subst" "0" "00004" "TCOF1_000195" "g.149755784C>A" "" "{DB:DVD}, ., {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376221C>A" "" "pathogenic" "" "0000639930" "1" "99" "5" "149755816" "149755826" "del" "0" "00004" "TCOF1_000196" "g.149755816_149755826del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376253_150376263del" "" "pathogenic" "" "0000639931" "1" "99" "5" "149755832" "149755832" "subst" "0" "00004" "TCOF1_000197" "g.149755832C>G" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376269C>G" "" "pathogenic" "" "0000639932" "1" "99" "5" "149755849" "149755850" "del" "0" "00004" "TCOF1_000198" "g.149755849_149755850del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376286_150376287del" "" "pathogenic" "" "0000639933" "1" "99" "5" "149755850" "149755857" "del" "0" "00004" "TCOF1_000200" "g.149755850_149755857del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376287_150376294del" "" "pathogenic" "" "0000639934" "1" "99" "5" "149755850" "149755853" "del" "0" "00004" "TCOF1_000199" "g.149755850_149755853del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376287_150376290del" "" "pathogenic" "" "0000639935" "1" "99" "5" "149755854" "149755857" "del" "0" "00004" "TCOF1_000201" "g.149755854_149755857del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}, {PMID:Wang 2014:24994558}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376291_150376294del" "" "pathogenic" "" "0000639936" "1" "99" "5" "149755863" "149755867" "del" "0" "00004" "TCOF1_000202" "g.149755863_149755867del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376300_150376304del" "" "pathogenic" "" "0000639937" "1" "99" "5" "149755894" "149755894" "subst" "0" "00004" "TCOF1_000203" "g.149755894G>A" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376331G>A" "" "pathogenic" "" "0000639938" "1" "33" "5" "149755915" "149755915" "subst" "8.14166E-6" "00004" "TCOF1_000204" "g.149755915C>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376352C>T" "" "likely benign" "" "0000639939" "1" "99" "5" "149755989" "149755990" "del" "0" "00004" "TCOF1_000205" "g.149755989_149755990del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376426_150376427del" "" "pathogenic" "" "0000639940" "1" "99" "5" "149756000" "149756000" "dup" "0" "00004" "TCOF1_000206" "g.149756000dup" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376437dup" "" "pathogenic" "" "0000639941" "1" "99" "5" "149756007" "149756007" "del" "0" "00004" "TCOF1_000207" "g.149756007del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376444del" "" "pathogenic" "" "0000639942" "1" "99" "5" "149756010" "149756010" "subst" "0" "00004" "TCOF1_000208" "g.149756010C>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376447C>T" "" "pathogenic" "" "0000639943" "1" "99" "5" "149756087" "149756087" "dup" "0" "00004" "TCOF1_000209" "g.149756087dup" "" "{DB:DVD}, {PMID:The Treacher Collins Syndrome Collaborative Group 1996:8563749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376524dup" "" "pathogenic" "" "0000639944" "1" "99" "5" "149756093" "149756099" "del" "0" "00004" "TCOF1_000210" "g.149756093_149756099del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376530_150376536del" "" "pathogenic" "" "0000639945" "1" "99" "5" "149756095" "149756102" "del" "0" "00004" "TCOF1_000211" "g.149756095_149756102del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376532_150376539del" "" "pathogenic" "" "0000639946" "1" "99" "5" "149756100" "149756100" "subst" "0" "00004" "TCOF1_000212" "g.149756100C>T" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376537C>T" "" "pathogenic" "" "0000639947" "1" "99" "5" "149756128" "149756129" "del" "0" "00004" "TCOF1_000213" "g.149756128_149756129del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376565_150376566del" "" "pathogenic" "" "0000639948" "1" "99" "5" "149756130" "149756130" "subst" "0" "00004" "TCOF1_000214" "g.149756130G>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376567G>T" "" "pathogenic" "" "0000639949" "1" "99" "5" "149756133" "149756134" "del" "0" "00004" "TCOF1_000215" "g.149756133_149756134del" "" "{DB:DVD}, {PMID:Horiuchi 2005:15759264}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376570_150376571del" "" "pathogenic" "" "0000639950" "1" "99" "5" "149756156" "149756159" "del" "0" "00004" "TCOF1_000216" "g.149756156_149756159del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150376593_150376596del" "" "pathogenic" "" "0000639951" "1" "99" "5" "149758466" "149758466" "subst" "0" "00004" "TCOF1_000217" "g.149758466A>G" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150378903A>G" "" "pathogenic" "" "0000639952" "1" "99" "5" "149758468" "149758468" "del" "0" "00004" "TCOF1_000218" "g.149758468del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150378905del" "" "pathogenic" "" "0000639953" "1" "99" "5" "149758553" "149758553" "del" "0" "00004" "TCOF1_000219" "g.149758553del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150378990del" "" "pathogenic" "" "0000639954" "1" "99" "5" "149758564" "149758564" "delins" "0" "00004" "TCOF1_000220" "g.149758564delinsTT" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379001delinsTT" "" "pathogenic" "" "0000639955" "1" "99" "5" "149758579" "149758579" "subst" "0" "00004" "TCOF1_000221" "g.149758579C>T" "" "{DB:DVD}, {PMID:Su 2007:17786119}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379016C>T" "" "pathogenic" "" "0000639956" "1" "99" "5" "149758600" "149758603" "del" "0" "00004" "TCOF1_000222" "g.149758600_149758603del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379037_150379040del" "" "pathogenic" "" "0000639957" "1" "99" "5" "149758605" "149758605" "subst" "0" "00004" "TCOF1_000049" "g.149758605G>A" "" "{DB:DVD}, {PMID:Gladwin 1996:8894686}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379042G>A" "" "pathogenic" "" "0000639958" "1" "99" "5" "149758610" "149758610" "subst" "0" "00004" "TCOF1_000223" "g.149758610G>C" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379047G>C" "" "pathogenic" "" "0000639959" "1" "99" "5" "149758803" "149758803" "del" "0" "00004" "TCOF1_000224" "g.149758803del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379240del" "" "pathogenic" "" "0000639960" "1" "99" "5" "149758816" "149758816" "subst" "0" "00004" "TCOF1_000225" "g.149758816C>T" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379253C>T" "" "pathogenic" "" "0000639961" "1" "99" "5" "149758841" "149758841" "del" "0" "00004" "TCOF1_000226" "g.149758841del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379278del" "" "pathogenic" "" "0000639962" "1" "99" "5" "149758888" "149758888" "subst" "0.000105665" "00004" "TCOF1_000227" "g.149758888C>G" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379325C>G" "" "pathogenic" "" "0000639963" "1" "99" "5" "149758898" "149758907" "del" "0" "00004" "TCOF1_000228" "g.149758898_149758907del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379335_150379344del" "" "pathogenic" "" "0000639964" "1" "99" "5" "149758899" "149758900" "del" "0" "00004" "TCOF1_000229" "g.149758899_149758900del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379336_150379337del" "" "pathogenic" "" "0000639965" "1" "99" "5" "149758919" "149758920" "del" "0" "00004" "TCOF1_000230" "g.149758919_149758920del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379356_150379357del" "" "pathogenic" "" "0000639966" "1" "99" "5" "149758930" "149758930" "subst" "0" "00004" "TCOF1_000231" "g.149758930G>T" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379367G>T" "" "pathogenic" "" "0000639967" "1" "99" "5" "149758930" "149758930" "del" "0" "00004" "TCOF1_000050" "g.149758930del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379367del" "" "pathogenic" "" "0000639968" "1" "99" "5" "149758939" "149758940" "del" "0" "00004" "TCOF1_000232" "g.149758939_149758940del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379376_150379377del" "" "pathogenic" "" "0000639969" "1" "99" "5" "149758944" "149758947" "del" "0" "00004" "TCOF1_000233" "g.149758944_149758947del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379381_150379384del" "" "pathogenic" "" "0000639970" "1" "77" "5" "149758969" "149758969" "subst" "0" "00004" "TCOF1_000234" "g.149758969C>T" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379406C>T" "" "likely pathogenic" "" "0000639971" "1" "99" "5" "149759093" "149759093" "subst" "0" "00004" "TCOF1_000235" "g.149759093A>C" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379530A>C" "" "pathogenic" "" "0000639972" "1" "99" "5" "149759109" "149759109" "del" "0" "00004" "TCOF1_000236" "g.149759109del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379546del" "" "pathogenic" "" "0000639973" "1" "99" "5" "149759119" "149759119" "subst" "0" "00004" "TCOF1_000237" "g.149759119C>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379556C>T" "" "pathogenic" "" "0000639974" "1" "99" "5" "149759149" "149759149" "subst" "0" "00004" "TCOF1_000238" "g.149759149G>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379586G>T" "" "pathogenic" "" "0000639975" "1" "99" "5" "149759157" "149759157" "del" "0" "00004" "TCOF1_000239" "g.149759157del" "" "{DB:DVD}, {PMID:Wise 1997:9096354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379594del" "" "pathogenic" "" "0000639976" "1" "99" "5" "149759167" "149759167" "del" "0" "00004" "TCOF1_000240" "g.149759167del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379604del" "" "pathogenic" "" "0000639977" "1" "99" "5" "149759193" "149759194" "del" "0" "00004" "TCOF1_000241" "g.149759193_149759194del" "" "{DB:DVD}, {PMID:Wise 1997:9096354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379630_150379631del" "" "pathogenic" "" "0000639978" "1" "99" "5" "149759194" "149759195" "ins" "0" "00004" "TCOF1_000242" "g.149759194_149759195insA" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379631_150379632insA" "" "pathogenic" "" "0000639979" "1" "99" "5" "149759196" "149759196" "dup" "0" "00004" "TCOF1_000243" "g.149759196dup" "" "{DB:DVD}, {PMID:Horiuchi 2005:15759264}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379633dup" "" "pathogenic" "" "0000639980" "1" "99" "5" "149759209" "149759209" "subst" "0" "00004" "TCOF1_000244" "g.149759209C>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379646C>T" "" "pathogenic" "" "0000639981" "1" "99" "5" "149759212" "149759212" "del" "0" "00004" "TCOF1_000245" "g.149759212del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379649del" "" "pathogenic" "" "0000639982" "1" "99" "5" "149759219" "149759228" "delins" "0" "00004" "TCOF1_000246" "g.149759219_149759228delinsGCAGGATG" "" "{DB:DVD}, {PMID:Wise 1997:9096354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379656_150379665delinsGCAGGATG" "" "pathogenic" "" "0000639983" "1" "99" "5" "149759232" "149759233" "del" "0" "00004" "TCOF1_000247" "g.149759232_149759233del" "" "{DB:DVD}, {PMID:Wise 1997:9096354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379669_150379670del" "" "pathogenic" "" "0000639984" "1" "99" "5" "149759267" "149759267" "del" "0" "00004" "TCOF1_000248" "g.149759267del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379704del" "" "pathogenic" "" "0000639985" "1" "99" "5" "149759269" "149759281" "del" "0" "00004" "TCOF1_000249" "g.149759269_149759281del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379706_150379718del" "" "pathogenic" "" "0000639986" "1" "99" "5" "149759289" "149759289" "dup" "0" "00004" "TCOF1_000250" "g.149759289dup" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379726dup" "" "pathogenic" "" "0000639987" "1" "33" "5" "149759321" "149759321" "subst" "0.00115121" "00004" "TCOF1_000251" "g.149759321A>G" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150379758A>G" "" "likely benign" "" "0000639988" "1" "33" "5" "149762684" "149762684" "subst" "0" "00004" "TCOF1_000252" "g.149762684G>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150383121G>T" "" "likely benign" "" "0000639989" "1" "99" "5" "149767462" "149767462" "subst" "0" "00004" "TCOF1_000253" "g.149767462A>G" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387899A>G" "" "pathogenic" "" "0000639990" "1" "99" "5" "149767464" "149767464" "subst" "0" "00004" "TCOF1_000254" "g.149767464G>A" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387901G>A" "" "pathogenic" "" "0000639991" "1" "99" "5" "149767464" "149767464" "subst" "0" "00004" "TCOF1_000255" "g.149767464G>C" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387901G>C" "" "pathogenic" "" "0000639992" "1" "99" "5" "149767465" "149767465" "subst" "0" "00004" "TCOF1_000256" "g.149767465G>A" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387902G>A" "" "pathogenic" "" "0000639993" "1" "99" "5" "149767481" "149767481" "dup" "0" "00004" "TCOF1_000257" "g.149767481dup" "" "{DB:DVD}, {PMID:Caluseriu 2013:24108658}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387918dup" "" "pathogenic" "" "0000639994" "1" "99" "5" "149767502" "149767502" "subst" "0" "00004" "TCOF1_000258" "g.149767502G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150387939G>A" "" "pathogenic" "" "0000639995" "1" "99" "5" "149767567" "149767567" "subst" "0" "00004" "TCOF1_000259" "g.149767567C>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Horiuchi 2004:15214011}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388004C>T" "" "pathogenic" "" "0000639996" "1" "99" "5" "149767574" "149767574" "subst" "0" "00004" "TCOF1_000260" "g.149767574C>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388011C>A" "" "pathogenic" "" "0000639997" "1" "99" "5" "149767576" "149767576" "subst" "0" "00004" "TCOF1_000261" "g.149767576G>T" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388013G>T" "" "pathogenic" "" "0000639998" "1" "99" "5" "149767636" "149767636" "subst" "0" "00004" "TCOF1_000262" "g.149767636C>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388073C>T" "" "pathogenic" "" "0000639999" "1" "99" "5" "149767652" "149767652" "del" "0" "00004" "TCOF1_000263" "g.149767652del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388089del" "" "pathogenic" "" "0000640000" "1" "99" "5" "149767652" "149767652" "subst" "0" "00004" "TCOF1_000264" "g.149767652G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150388089G>A" "" "pathogenic" "" "0000640001" "1" "99" "5" "149769448" "149769448" "subst" "0" "00004" "TCOF1_000265" "g.149769448A>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389885A>T" "" "pathogenic" "" "0000640002" "1" "99" "5" "149769449" "149769449" "subst" "0" "00004" "TCOF1_000266" "g.149769449G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389886G>A" "" "pathogenic" "" "0000640003" "1" "99" "5" "149769456" "149769457" "del" "0" "00004" "TCOF1_000267" "g.149769456_149769457del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389893_150389894del" "" "pathogenic" "" "0000640004" "1" "99" "5" "149769480" "149769480" "del" "0" "00004" "TCOF1_000268" "g.149769480del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389917del" "" "pathogenic" "" "0000640005" "1" "99" "5" "149769510" "149769510" "dup" "0" "00004" "TCOF1_000269" "g.149769510dup" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Caluseriu 2013:24108658}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389947dup" "" "pathogenic" "" "0000640006" "1" "99" "5" "149769515" "149769515" "del" "0" "00004" "TCOF1_000270" "g.149769515del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389952del" "" "pathogenic" "" "0000640007" "1" "99" "5" "149769521" "149769521" "dup" "0" "00004" "TCOF1_000271" "g.149769521dup" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389958dup" "" "pathogenic" "" "0000640008" "1" "99" "5" "149769559" "149769559" "subst" "0" "00004" "TCOF1_000272" "g.149769559C>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150389996C>T" "" "pathogenic" "" "0000640009" "1" "99" "5" "149769566" "149769566" "subst" "0" "00004" "TCOF1_000273" "g.149769566C>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150390003C>T" "" "pathogenic" "" "0000640010" "1" "99" "5" "149769586" "149769586" "subst" "0" "00004" "TCOF1_000055" "g.149769586G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150390023G>A" "" "pathogenic" "" "0000640011" "1" "99" "5" "149769586" "149769586" "subst" "0" "00004" "TCOF1_000274" "g.149769586G>T" "" "{DB:DVD}, {PMID:Horiuchi 2005:15759264}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150390023G>T" "" "pathogenic" "" "0000640012" "1" "99" "5" "149771152" "149771152" "del" "0" "00004" "TCOF1_000056" "g.149771152del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150391589del" "" "pathogenic" "" "0000640013" "1" "99" "5" "149771536" "149771536" "del" "0" "00004" "TCOF1_000275" "g.149771536del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150391973del" "" "pathogenic" "" "0000640014" "1" "99" "5" "149771538" "149771538" "del" "0" "00004" "TCOF1_000276" "g.149771538del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150391975del" "" "pathogenic" "" "0000640015" "1" "99" "5" "149771539" "149771545" "del" "0" "00004" "TCOF1_000277" "g.149771539_149771545del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150391976_150391982del" "" "pathogenic" "" "0000640016" "1" "99" "5" "149771553" "149771553" "del" "0" "00004" "TCOF1_000278" "g.149771553del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150391990del" "" "pathogenic" "" "0000640017" "1" "99" "5" "149771574" "149771574" "subst" "0" "00004" "TCOF1_000279" "g.149771574C>T" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392011C>T" "" "pathogenic" "" "0000640018" "1" "99" "5" "149771622" "149771622" "subst" "0" "00004" "TCOF1_000280" "g.149771622C>T" "" "{DB:DVD}, {PMID:Teber 2004:15340364}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392059C>T" "" "pathogenic" "" "0000640019" "1" "99" "5" "149771664" "149771664" "subst" "5.68597E-5" "00004" "TCOF1_000281" "g.149771664G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392101G>A" "" "pathogenic" "" "0000640020" "1" "99" "5" "149771678" "149771685" "del" "0" "00004" "TCOF1_000282" "g.149771678_149771685del" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392115_150392122del" "" "pathogenic" "" "0000640021" "1" "99" "5" "149771712" "149771712" "subst" "0" "00004" "TCOF1_000283" "g.149771712C>T" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392149C>T" "" "pathogenic" "" "0000640022" "1" "33" "5" "149772281" "149772281" "subst" "0.000273202" "00004" "TCOF1_000284" "g.149772281C>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392718C>T" "" "likely benign" "" "0000640023" "1" "99" "5" "149772297" "149772297" "del" "0" "00004" "TCOF1_000285" "g.149772297del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392734del" "" "pathogenic" "" "0000640024" "1" "99" "5" "149772354" "149772354" "del" "0" "00004" "TCOF1_000286" "g.149772354del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392791del" "" "pathogenic" "" "0000640025" "1" "33" "5" "149772417" "149772417" "dup" "0" "00004" "TCOF1_000287" "g.149772417dup" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150392854dup" "" "likely benign" "" "0000640026" "1" "99" "5" "149772941" "149772945" "del" "0" "00004" "TCOF1_000288" "g.149772941_149772945del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393378_150393382del" "" "pathogenic" "" "0000640027" "1" "99" "5" "149772945" "149772945" "subst" "0" "00004" "TCOF1_000289" "g.149772945C>G" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393382C>G" "" "pathogenic" "" "0000640028" "1" "99" "5" "149772946" "149772946" "subst" "0" "00004" "TCOF1_000290" "g.149772946A>C" "" "{DB:DVD}, {PMID:Macaya 2009:19572402}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393383A>C" "" "pathogenic" "" "0000640029" "1" "99" "5" "149772947" "149772947" "subst" "0" "00004" "TCOF1_000291" "g.149772947G>A" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393384G>A" "" "pathogenic" "" "0000640030" "1" "77" "5" "149773034" "149773038" "del" "0" "00004" "TCOF1_000292" "g.149773034_149773038del" "" "{DB:DVD}, {PMID:Su 2006:16801042}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393471_150393475del" "" "likely pathogenic" "" "0000640031" "1" "99" "5" "149773079" "149773081" "delins" "0" "00004" "TCOF1_000293" "g.149773079_149773081delinsA" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393516_150393518delinsA" "" "pathogenic" "" "0000640032" "1" "77" "5" "149773092" "149773092" "subst" "0" "00004" "TCOF1_000294" "g.149773092C>G" "" "{DB:DVD}, {PMID:Zinchenko 2012:22730774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393529C>G" "" "likely pathogenic" "" "0000640033" "1" "99" "5" "149773116" "149773116" "subst" "0" "00004" "TCOF1_000295" "g.149773116G>A" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393553G>A" "" "pathogenic" "" "0000640034" "1" "99" "5" "149773117" "149773117" "dup" "0" "00004" "TCOF1_000296" "g.149773117dup" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150393554dup" "" "pathogenic" "" "0000640035" "1" "99" "5" "149775886" "149775886" "del" "0" "00004" "TCOF1_000297" "g.149775886del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396323del" "" "pathogenic" "" "0000640036" "1" "99" "5" "149775900" "149775901" "del" "0" "00004" "TCOF1_000298" "g.149775900_149775901del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396337_150396338del" "" "pathogenic" "" "0000640037" "1" "99" "5" "149775916" "149775916" "del" "0" "00004" "TCOF1_000299" "g.149775916del" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396353del" "" "pathogenic" "" "0000640038" "1" "99" "5" "149775916" "149775916" "dup" "0" "00004" "TCOF1_000300" "g.149775916dup" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396353dup" "" "pathogenic" "" "0000640039" "1" "99" "5" "149775933" "149775933" "del" "0" "00004" "TCOF1_000301" "g.149775933del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396370del" "" "pathogenic" "" "0000640040" "1" "99" "5" "149775994" "149775994" "del" "0" "00004" "TCOF1_000302" "g.149775994del" "" "{DB:DVD}, {PMID:Dixon 2004:15150774}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396431del" "" "pathogenic" "" "0000640041" "1" "33" "5" "149776005" "149776005" "subst" "0.000150369" "00004" "TCOF1_000303" "g.149776005A>C" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396442A>C" "" "likely benign" "" "0000640042" "1" "99" "5" "149776005" "149776006" "del" "0" "00004" "TCOF1_000304" "g.149776005_149776006del" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396442_150396443del" "" "pathogenic" "" "0000640043" "1" "99" "5" "149776046" "149776049" "del" "0" "00004" "TCOF1_000305" "g.149776046_149776049del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396483_150396486del" "" "pathogenic" "" "0000640044" "1" "99" "5" "149776074" "149776074" "dup" "0" "00004" "TCOF1_000306" "g.149776074dup" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396511dup" "" "pathogenic" "" "0000640045" "1" "99" "5" "149776086" "149776086" "del" "0" "00004" "TCOF1_000307" "g.149776086del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396523del" "" "pathogenic" "" "0000640046" "1" "99" "5" "149776124" "149776124" "del" "0" "00004" "TCOF1_000308" "g.149776124del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396561del" "" "pathogenic" "" "0000640047" "1" "99" "5" "149776159" "149776161" "del" "0" "00004" "TCOF1_000309" "g.149776159_149776161del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396596_150396598del" "" "pathogenic" "" "0000640048" "1" "99" "5" "149776190" "149776191" "del" "0" "00004" "TCOF1_000310" "g.149776190_149776191del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396627_150396628del" "" "pathogenic" "" "0000640049" "1" "99" "5" "149776194" "149776195" "del" "0" "00004" "TCOF1_000311" "g.149776194_149776195del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396631_150396632del" "" "pathogenic" "" "0000640050" "1" "99" "5" "149776195" "149776195" "del" "0" "00004" "TCOF1_000312" "g.149776195del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396632del" "" "pathogenic" "" "0000640051" "1" "99" "5" "149776227" "149776227" "dup" "0" "00004" "TCOF1_000313" "g.149776227dup" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396664dup" "" "pathogenic" "" "0000640052" "1" "99" "5" "149776240" "149776241" "del" "0" "00004" "TCOF1_000314" "g.149776240_149776241del" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396677_150396678del" "" "pathogenic" "" "0000640053" "1" "99" "5" "149776270" "149776274" "del" "0" "00004" "TCOF1_000315" "g.149776270_149776274del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396707_150396711del" "" "pathogenic" "" "0000640054" "1" "99" "5" "149776281" "149776281" "dup" "0" "00004" "TCOF1_000060" "g.149776281dup" "" "{DB:DVD}, {PMID:Splendore 2000:11013442}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396718dup" "" "pathogenic" "" "0000640055" "1" "99" "5" "149776282" "149776282" "del" "0" "00004" "TCOF1_000316" "g.149776282del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396719del" "" "pathogenic" "" "0000640056" "1" "99" "5" "149776294" "149776294" "subst" "0" "00004" "TCOF1_000317" "g.149776294C>T" "" "{DB:DVD}, {PMID:Conte 2011:21951868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396731C>T" "" "pathogenic" "" "0000640057" "1" "99" "5" "149776319" "149776332" "del" "0" "00004" "TCOF1_000318" "g.149776319_149776332del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396756_150396769del" "" "pathogenic" "" "0000640058" "1" "33" "5" "149776358" "149776359" "delins" "0" "00004" "TCOF1_000319" "g.149776358_149776359delinsGA" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396795_150396796delinsGA" "" "likely benign" "" "0000640059" "1" "99" "5" "149776384" "149776384" "del" "0" "00004" "TCOF1_000320" "g.149776384del" "" "{DB:DVD}, {PMID:Writzl 2008:18627048}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396821del" "" "pathogenic" "" "0000640060" "1" "99" "5" "149776402" "149776403" "del" "0" "00004" "TCOF1_000321" "g.149776402_149776403del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396839_150396840del" "" "pathogenic" "" "0000640061" "1" "99" "5" "149776405" "149776405" "subst" "0" "00004" "TCOF1_000322" "g.149776405A>T" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396842A>T" "" "pathogenic" "" "0000640062" "1" "99" "5" "149776406" "149776406" "subst" "0" "00004" "TCOF1_000323" "g.149776406G>T" "" "{DB:DVD}, {PMID:Ellis 2002:12444270}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150396843G>T" "" "pathogenic" "" "0000640063" "1" "99" "5" "149777916" "149777929" "dup" "0" "00004" "TCOF1_000324" "g.149777916_149777929dup" "" "{DB:DVD}, {PMID:Bauer 2013:23401420}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398353_150398366dup" "" "pathogenic" "" "0000640064" "1" "99" "5" "149777924" "149777924" "dup" "0" "00004" "TCOF1_000325" "g.149777924dup" "" "{DB:DVD}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398361dup" "" "pathogenic" "" "0000640065" "1" "99" "5" "149777927" "149777928" "del" "0" "00004" "TCOF1_000326" "g.149777927_149777928del" "" "{DB:DVD}, {PMID:Teber 2004:15340364}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398364_150398365del" "" "pathogenic" "" "0000640066" "1" "99" "5" "149777929" "149777930" "del" "0" "00004" "TCOF1_000327" "g.149777929_149777930del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398366_150398367del" "" "pathogenic" "" "0000640067" "1" "99" "5" "149777931" "149777931" "dup" "0" "00004" "TCOF1_000328" "g.149777931dup" "" "{DB:DVD}, {PMID:Su 2012:21848650}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398368dup" "" "pathogenic" "" "0000640068" "1" "99" "5" "149777935" "149777939" "del" "0" "00004" "TCOF1_000329" "g.149777935_149777939del" "" "{DB:DVD}, {PMID:Edwards 1997:9042910}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398372_150398376del" "" "pathogenic" "" "0000640069" "1" "99" "5" "149777936" "149777939" "del" "0" "00004" "TCOF1_000330" "g.149777936_149777939del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398373_150398376del" "" "pathogenic" "" "0000640070" "1" "99" "5" "149777937" "149777939" "delins" "0" "00004" "TCOF1_000331" "g.149777937_149777939delinsTAG" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398374_150398376delinsTAG" "" "pathogenic" "" "0000640071" "1" "99" "5" "149777939" "149777939" "del" "0" "00004" "TCOF1_000332" "g.149777939del" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Li 2009:19050407}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398376del" "" "pathogenic" "" "0000640072" "1" "99" "5" "149777940" "149777943" "del" "0" "00004" "TCOF1_000334" "g.149777940_149777943del" "" "{DB:DVD}, {PMID:Bowman 2012:22317976}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398377_150398380del" "" "pathogenic" "" "0000640073" "1" "99" "5" "149777940" "149777940" "dup" "0" "00004" "TCOF1_000333" "g.149777940dup" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398377dup" "" "pathogenic" "" "0000640074" "1" "99" "5" "149777941" "149777958" "delins" "0" "00004" "TCOF1_000335" "g.149777941_149777958delinsGAAAAGAAGAAGAAAGC" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398378_150398395delinsGAAAAGAAGAAGAAAGC" "" "pathogenic" "" "0000640075" "1" "99" "5" "149777943" "149777947" "del" "0" "00004" "TCOF1_000066" "g.149777943_149777947del" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}, {PMID:Splendore 2000:11013442}, {PMID:Edwards 1997:9042910}, {PMID:Masotti 2009:20003452}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398380_150398384del" "" "pathogenic" "" "0000640076" "1" "99" "5" "149777961" "149777962" "del" "0" "00004" "TCOF1_000336" "g.149777961_149777962del" "" "{DB:DVD}, {PMID:Splendore 2002:12114482}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398398_150398399del" "" "pathogenic" "" "0000640077" "1" "99" "5" "149777994" "149777994" "subst" "0" "00004" "TCOF1_000337" "g.149777994C>T" "" "{DB:DVD}, {PMID:Zhang 2013:23838542}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398431C>T" "" "pathogenic" "" "0000640078" "1" "33" "5" "149778120" "149778120" "subst" "0" "00004" "TCOF1_000338" "g.149778120G>T" "" "{DB:DVD}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.150398557G>T" "" "likely benign" "" "0000651654" "1" "30" "5" "149753894" "149753894" "subst" "0.00235133" "03575" "TCOF1_000008" "g.149753894G>A" "11/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs144327167}" "Germline" "" "rs144327167" "0" "" "" "g.150374331G>A" "" "likely benign" "" "0000653374" "0" "90" "5" "149754344" "149754344" "del" "0" "01741" "TCOF1_000339" "g.149754344del" "" "" "" "1017delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.150374781del" "" "pathogenic" "" "0000653563" "0" "90" "5" "149740760" "149740760" "subst" "0" "02401" "TCOF1_000340" "g.149740760T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.150361197T>A" "" "pathogenic (dominant)" "ACMG" "0000655337" "0" "30" "5" "149773043" "149773043" "subst" "0.00133202" "01943" "TCOF1_000341" "g.149773043G>A" "" "" "" "TCOF1(NM_000356.3):c.3478G>A (p.(Ala1160Thr)), TCOF1(NM_001135243.1):c.3709G>A (p.A1237T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150393480G>A" "" "likely benign" "" "0000665547" "0" "90" "5" "149740773" "149740773" "subst" "0" "03145" "TCOF1_000119" "g.149740773C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.150361210C>T" "" "pathogenic (dominant)" "" "0000670270" "0" "90" "5" "149755750" "149755750" "dup" "0" "03640" "TCOF1_000194" "g.149755750dup" "" "" "" "1768dupC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000670271" "0" "90" "5" "149776281" "149776281" "dup" "0" "03640" "TCOF1_000060" "g.149776281dup" "" "" "" "3987dupG" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000670272" "0" "90" "5" "149777943" "149777947" "del" "0" "03640" "TCOF1_000066" "g.149777943_149777947del" "" "" "" "4138_4142delAAGAA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000670273" "0" "90" "5" "149753805" "149753805" "dup" "0" "03640" "TCOF1_000343" "g.149753805dup" "" "" "" "708dupA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000670274" "0" "90" "5" "149755345" "149755345" "del" "0" "03640" "TCOF1_000342" "g.149755345del" "" "" "" "1535delC" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000670277" "0" "90" "5" "149755345" "149755345" "del" "0" "03640" "TCOF1_000342" "g.149755345del" "" "" "" "1535delC" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000677441" "0" "30" "5" "149748434" "149748434" "subst" "0.000350305" "01943" "TCOF1_000344" "g.149748434C>T" "" "" "" "TCOF1(NM_001135243.1):c.534C>T (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677442" "0" "30" "5" "149754538" "149754538" "subst" "0.000326699" "01943" "TCOF1_000345" "g.149754538C>T" "" "" "" "TCOF1(NM_000356.3):c.1069C>T (p.(Pro357Ser)), TCOF1(NM_001135243.1):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677443" "0" "30" "5" "149754951" "149754951" "subst" "8.14186E-6" "01943" "TCOF1_000346" "g.149754951G>T" "" "" "" "TCOF1(NM_001135243.1):c.1538G>T (p.G513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677444" "0" "30" "5" "149771648" "149771648" "subst" "0.000491414" "01943" "TCOF1_000347" "g.149771648C>T" "" "" "" "TCOF1(NM_001135243.1):c.3426C>T (p.S1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677445" "0" "30" "5" "149776308" "149776308" "subst" "0.000324427" "01943" "CD74_000003" "g.149776308C>T" "" "" "" "TCOF1(NM_001135243.1):c.4245C>T (p.D1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677446" "0" "90" "5" "149776389" "149776389" "dup" "0" "01943" "CD74_000004" "g.149776389dup" "" "" "" "TCOF1(NM_001135243.1):c.4326dupG (p.K1443Efs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689466" "0" "30" "5" "149743698" "149743698" "subst" "7.3097E-5" "01943" "TCOF1_000348" "g.149743698C>T" "" "" "" "TCOF1(NM_001135243.1):c.187C>T (p.R63W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720285" "0" "50" "5" "149754377" "149754377" "subst" "0" "01943" "TCOF1_000349" "g.149754377G>T" "" "" "" "TCOF1(NM_001135243.1):c.1278+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720286" "0" "30" "5" "149754609" "149754609" "subst" "4.48145E-5" "01943" "TCOF1_000350" "g.149754609G>A" "" "" "" "TCOF1(NM_001135243.1):c.1371G>A (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720287" "0" "30" "5" "149755293" "149755293" "subst" "0.0004591" "01943" "TCOF1_000351" "g.149755293T>C" "" "" "" "TCOF1(NM_001135243.1):c.1714T>C (p.L572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720288" "0" "30" "5" "149759198" "149759198" "subst" "0.0011745" "01804" "TCOF1_000090" "g.149759198C>T" "" "" "" "TCOF1(NM_000356.3):c.2531C>T (p.(Pro844Leu)), TCOF1(NM_001135243.1):c.2762C>T (p.P921L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720289" "0" "50" "5" "149763314" "149763316" "del" "0" "01804" "TCOF1_000352" "g.149763314_149763316del" "" "" "" "TCOF1(NM_001008657.2):c.2869_2871del (p.(Ser958del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720290" "0" "50" "5" "149767657" "149767657" "subst" "0" "01943" "TCOF1_000353" "g.149767657C>T" "" "" "" "TCOF1(NM_001135243.1):c.3046+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720291" "0" "30" "5" "149769589" "149769589" "subst" "4.36632E-6" "01943" "TCOF1_000354" "g.149769589A>G" "" "" "" "TCOF1(NM_001135243.1):c.3183+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720292" "0" "90" "5" "149771146" "149771146" "del" "0" "02329" "TCOF1_000093" "g.149771146del" "" "" "" "TCOF1(NM_001135243.2):c.3223delG (p.A1075Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720293" "0" "30" "5" "149772954" "149772954" "subst" "0.00116964" "01943" "TCOF1_000094" "g.149772954T>A" "" "" "" "TCOF1(NM_000356.3):c.3389T>A (p.(Met1130Lys)), TCOF1(NM_001135243.1):c.3620T>A (p.M1207K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720294" "0" "30" "5" "149776398" "149776398" "subst" "2.37144E-5" "01943" "CD74_000005" "g.149776398C>T" "" "" "" "TCOF1(NM_001135243.1):c.4335C>T (p.S1445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730074" "3" "90" "5" "149758969" "149758969" "subst" "0" "00000" "TCOF1_000234" "g.149758969C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001135243.1:c.2656C>T:p.(Gln886*)" "" "Germline" "" "" "0" "" "" "g.150379406C>T" "" "likely pathogenic (recessive)" "" "0000801968" "0" "30" "5" "149754216" "149754216" "subst" "0.000899384" "01943" "TCOF1_000009" "g.149754216G>T" "" "" "" "TCOF1(NM_000356.3):c.889G>T (p.(Ala297Ser)), TCOF1(NM_001135243.1):c.1120G>T (p.A374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801969" "0" "30" "5" "149754537" "149754537" "subst" "0.000277719" "01943" "TCOF1_000355" "g.149754537C>A" "" "" "" "TCOF1(NM_001135243.1):c.1299C>A (p.A433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801970" "0" "30" "5" "149769571" "149769571" "subst" "0.000268432" "01943" "TCOF1_000356" "g.149769571G>A" "" "" "" "TCOF1(NM_001135243.1):c.3168G>A (p.E1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801971" "0" "30" "5" "149773043" "149773043" "subst" "0.00133202" "01804" "TCOF1_000341" "g.149773043G>A" "" "" "" "TCOF1(NM_000356.3):c.3478G>A (p.(Ala1160Thr)), TCOF1(NM_001135243.1):c.3709G>A (p.A1237T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000844555" "1" "30" "5" "149748403" "149748403" "subst" "0.000540826" "04221" "TCOF1_000072" "g.149748403C>T" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "HpyCH4IV-" "" "ACMG BS1, BS2, BP1, BP4, BP6" "Germline" "?" "rs181203524" "0" "" "" "g.150368840C>T" "" "likely benign" "ACMG" "0000844558" "0" "10" "5" "149755744" "149755744" "subst" "0.0693377" "04221" "TCOF1_000047" "g.149755744G>C" "4/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "CviKI_1-" "" "ACMG/AMP BA1, BP1, BP4; variant found in 4 heterozygous patients" "Germline" "?" "rs2071240" "0" "" "" "g.150376181G>C" "" "benign" "ACMG" "0000844559" "0" "10" "5" "149759096" "149759096" "subst" "0.142779" "04221" "TCOF1_000052" "g.149759096T>C" "6/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "HphI-" "" "ACMG/AMP BA1, BP1, BP4, BP6; variant found in 6 heterozygous patients" "Germline" "?" "rs7713638" "0" "" "" "g.150379533T>C" "" "benign" "ACMG" "0000846934" "0" "10" "5" "149772280" "149772280" "subst" "0.168477" "04221" "TCOF1_000022" "g.149772280C>G" "4/49 patients (3 heterozygous, 1 homozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "AciI+, BsrBI+, MnlI- FauI+," "" "ACMG BA1, BP1, BP4, BP6" "Germline" "?" "rs1136103" "0" "" "" "g.150392717C>G" "VCV000130571.5" "benign" "ACMG" "0000846951" "0" "10" "5" "149776232" "149776232" "subst" "0.259831" "04221" "TCOF1_000026" "g.149776232C>T" "21/49 patients (20 heterozygous, 1 homozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BA1, BP1, BP4, BP6." "Germline/De novo (untested)" "?" "rs15251" "0" "" "" "g.150396669C>T" "VCV000130574.10" "benign" "ACMG" "0000847027" "1" "10" "5" "149776355" "149776355" "subst" "0.018438" "04221" "TCOF1_000062" "g.149776355G>C" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BP6, BS1, BS2, BP1, BP4" "Germline/De novo (untested)" "?" "rs45491998" "0" "" "" "g.150396792G>C" "VCV000130575.8" "benign" "ACMG" "0000847529" "1" "10" "5" "149755340" "149755340" "subst" "0.0663041" "04221" "TCOF1_000044" "g.149755340G>T" "1/49 patients" "" "AvaII+, BsmFI+, PpuMI+, ApaI-, BaeGI-, BanII-, Bsp1286I-, PspOMI-" "" "" "Germline/De novo (untested)" "?" "rs7701163" "0" "" "" "g.150375777G>T" "VCV000130564.6" "benign" "ACMG" "0000850842" "0" "30" "5" "149754538" "149754538" "subst" "0.000326699" "01804" "TCOF1_000345" "g.149754538C>T" "" "" "" "TCOF1(NM_000356.3):c.1069C>T (p.(Pro357Ser)), TCOF1(NM_001135243.1):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850843" "0" "30" "5" "149776062" "149776062" "subst" "4.12018E-6" "01943" "TCOF1_000365" "g.149776062C>T" "" "" "" "TCOF1(NM_001135243.1):c.3999C>T (p.T1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850844" "0" "90" "5" "149776281" "149776281" "dup" "0" "02326" "TCOF1_000060" "g.149776281dup" "" "" "" "TCOF1(NM_001135243.1):c.4218dupG (p.S1407Vfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850845" "0" "50" "5" "149778006" "149778014" "del" "0" "02325" "CD74_000007" "g.149778006_149778014del" "" "" "" "TCOF1(NM_001135243.2):c.4432_4440delAAGAAAAAG (p.K1480_K1482del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859837" "0" "50" "5" "149749092" "149749092" "subst" "0" "01943" "TCOF1_000357" "g.149749092G>A" "" "" "" "TCOF1(NM_001135243.1):c.566G>A (p.G189E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859838" "0" "30" "5" "149749171" "149749171" "subst" "1.62688E-5" "01943" "TCOF1_000358" "g.149749171T>G" "" "" "" "TCOF1(NM_001135243.1):c.639+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859839" "0" "50" "5" "149753832" "149753832" "subst" "4.5E-6" "01804" "TCOF1_000359" "g.149753832G>T" "" "" "" "TCOF1(NM_000356.3):c.735G>T (p.(Lys245Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859840" "0" "30" "5" "149754226" "149754226" "subst" "0.000224635" "01943" "TCOF1_000360" "g.149754226C>T" "" "" "" "TCOF1(NM_001135243.1):c.1130C>T (p.P377L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859841" "0" "30" "5" "149754229" "149754229" "subst" "0.00272809" "01804" "TCOF1_000361" "g.149754229C>T" "" "" "" "TCOF1(NM_000356.3):c.902C>T (p.(Ala301Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859842" "0" "10" "5" "149755340" "149755340" "subst" "0.0663041" "02326" "TCOF1_000044" "g.149755340G>T" "" "" "" "TCOF1(NM_001135243.1):c.1761G>T (p.G587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859844" "0" "30" "5" "149755751" "149755751" "subst" "0.000394482" "01943" "TCOF1_000363" "g.149755751G>A" "" "" "" "TCOF1(NM_001135243.1):c.2000G>A (p.R667Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859845" "0" "30" "5" "149771660" "149771660" "subst" "0.00230278" "01804" "TCOF1_000364" "g.149771660T>G" "" "" "" "TCOF1(NM_000356.3):c.3207T>G (p.(Ser1069Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886698" "0" "30" "5" "149751642" "149751642" "subst" "8.12592E-5" "01804" "TCOF1_000366" "g.149751642C>T" "" "" "" "TCOF1(NM_001008657.2):c.713C>T (p.(Ala238Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886699" "0" "30" "5" "149751756" "149751773" "del" "0" "02325" "TCOF1_000075" "g.149751756_149751773del" "" "" "" "TCOF1(NM_001008657.2):c.817_834del (p.(Gly276_Glu281del)), TCOF1(NM_001135243.1):c.827_844delGATCTGAAAGTGAGGAGG (p.G276_E281del), TCOF1(NM_0011352...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886700" "0" "30" "5" "149754312" "149754312" "subst" "2.86294E-5" "01804" "TCOF1_000079" "g.149754312C>T" "" "" "" "TCOF1(NM_000356.3):c.985C>T (p.(Arg329Trp)), TCOF1(NM_001135243.1):c.1216C>T (p.R406W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886701" "0" "30" "5" "149755359" "149755359" "subst" "8.12348E-6" "01804" "TCOF1_000367" "g.149755359C>T" "" "" "" "TCOF1(NM_001135243.1):c.1780C>T (p.(Pro594Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886702" "0" "50" "5" "149771589" "149771589" "subst" "0" "02329" "TCOF1_000368" "g.149771589A>G" "" "" "" "TCOF1(NM_001135243.1):c.3367A>G (p.N1123D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886703" "0" "90" "5" "149775997" "149775997" "subst" "0" "02325" "TCOF1_000369" "g.149775997C>T" "" "" "" "TCOF1(NM_001135243.2):c.3934C>T (p.Q1312*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912266" "0" "30" "5" "149754536" "149754536" "subst" "3.67749E-5" "02325" "TCOF1_000370" "g.149754536C>T" "" "" "" "TCOF1(NM_001135243.2):c.1298C>T (p.A433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912267" "0" "50" "5" "149776391" "149776391" "subst" "4.55639E-5" "01804" "CD74_000008" "g.149776391A>C" "" "" "" "TCOF1(NM_000356.3):c.4097A>C (p.(Lys1366Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921059" "0" "90" "5" "149776284" "149776284" "dup" "0" "03544" "TCOF1_000371" "g.149776284dup" "" "" "" "" "segretation with phenotype is partial (facial abnormality)" "Germline/De novo (untested)" "-" "rs1561540623" "0" "" "" "g.150396721dup" "" "pathogenic" "ACMG" "0000927618" "0" "90" "5" "149753865" "149753866" "ins" "0" "01741" "TCOF1_000372" "g.149753865_149753866insT" "" "" "" "g.149753865_149" "" "De novo" "" "" "0" "" "" "g.150374302_150374303insT" "" "pathogenic" "ACMG" "0000948513" "0" "30" "5" "149740732" "149740732" "subst" "0.00211558" "02326" "TCOF1_000002" "g.149740732C>T" "" "" "" "TCOF1(NM_000356.3):c.122C>T (p.(Ala41Val)), TCOF1(NM_001135243.1):c.122C>T (p.A41V), TCOF1(NM_001135243.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976666" "0" "30" "5" "149743741" "149743741" "subst" "9.3401E-5" "01804" "TCOF1_000373" "g.149743741G>A" "" "" "" "TCOF1(NM_001371623.1):c.230G>A (p.(Arg77His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976667" "0" "30" "5" "149751800" "149751800" "subst" "0" "01804" "TCOF1_000374" "g.149751800G>A" "" "" "" "TCOF1(NM_001371623.1):c.870+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976668" "0" "30" "5" "149755277" "149755280" "del" "0" "01804" "TCOF1_000375" "g.149755277_149755280del" "" "" "" "TCOF1(NM_001371623.1):c.1705-7_1705-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976669" "0" "30" "5" "149771576" "149771576" "subst" "1.62454E-5" "01804" "TCOF1_000376" "g.149771576G>A" "" "" "" "TCOF1(NM_001371623.1):c.3354G>A (p.(Gln1118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985144" "0" "90" "5" "149754372" "149754372" "subst" "0" "01741" "TCOF1_000377" "g.149754372C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.150374809C>T" "" "pathogenic" "" "0000994804" "0" "30" "5" "149748340" "149748340" "subst" "4.06256E-5" "01804" "TCOF1_000378" "g.149748340C>T" "" "" "" "TCOF1(NM_001135243.1):c.440C>T (p.(Thr147Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994805" "0" "30" "5" "149751653" "149751653" "subst" "7.71918E-5" "02325" "TCOF1_000006" "g.149751653C>T" "" "" "" "TCOF1(NM_001008657.2):c.724C>T (p.(Pro242Ser)), TCOF1(NM_001135243.2):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994806" "0" "90" "5" "149754589" "149754589" "del" "0" "02327" "TCOF1_000167" "g.149754589del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994807" "0" "50" "5" "149754706" "149754706" "subst" "8.24158E-6" "01804" "TCOF1_000379" "g.149754706G>A" "" "" "" "TCOF1(NM_001135243.1):c.1468G>A (p.(Ala490Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994808" "0" "10" "5" "149763305" "149763305" "subst" "0.14005" "02326" "TCOF1_000380" "g.149763305A>G" "" "" "" "TCOF1(NM_001135243.1):c.2859+4010A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994809" "0" "30" "5" "149771122" "149771122" "subst" "0" "01804" "TCOF1_000381" "g.149771122C>T" "" "" "" "TCOF1(NM_001135243.1):c.3199C>T (p.(Pro1067Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994810" "0" "30" "5" "149771532" "149771532" "subst" "0" "01804" "TCOF1_000382" "g.149771532G>A" "" "" "" "TCOF1(NM_001135243.1):c.3310G>A (p.(Val1104Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994811" "0" "30" "5" "149772346" "149772346" "subst" "0" "01804" "TCOF1_000383" "g.149772346C>T" "" "" "" "TCOF1(NM_001135243.1):c.3593C>T (p.(Ala1198Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025057" "0" "90" "5" "149755349" "149755350" "del" "0" "02329" "TCOF1_000384" "g.149755349_149755350del" "" "" "" "TCOF1(NM_001371623.1):c.1770_1771delGA (p.K591Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025058" "0" "50" "5" "149777948" "149777953" "del" "0" "02325" "CD74_000009" "g.149777948_149777953del" "" "" "" "TCOF1(NM_001135243.2):c.4374_4379delGAAGAA (p.K1459_K1460del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035031" "0" "50" "5" "149737367" "149737367" "subst" "0" "01804" "TCOF1_000385" "g.149737367C>T" "" "" "" "TCOF1(NM_001371623.1):c.58C>T (p.(Arg20Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035032" "0" "30" "5" "149759095" "149759095" "subst" "2.43887E-5" "01804" "TCOF1_000386" "g.149759095G>C" "" "" "" "TCOF1(NM_001371623.1):c.2659G>C (p.(Val887Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035033" "0" "30" "5" "149771218" "149771218" "subst" "0" "01804" "TCOF1_000387" "g.149771218G>C" "" "" "" "TCOF1(NM_001371623.1):c.3295G>C (p.(Gly1099Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TCOF1 ## Count = 422 "{{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}}" "0000079380" "00025553" "90" "4361" "0" "4365" "0" "c.4361_4365del" "r.(?)" "p.(Lys1454Argfs*15)" "" "0000254929" "00025553" "30" "2258" "0" "2258" "0" "c.2258A>G" "r.(?)" "p.(Gln753Arg)" "" "0000255228" "00025553" "30" "3781" "8" "3781" "8" "c.3781+8A>G" "r.(=)" "p.(=)" "" "0000311770" "00025553" "10" "4169" "0" "4169" "0" "c.4169C>T" "r.(?)" "p.(Ala1390Val)" "" "0000314477" "00025553" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Pro526=)" "" "0000316378" "00025553" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000316379" "00025553" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Ala423=)" "" "0000316380" "00025553" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Val595Ile)" "" "0000316381" "00025553" "30" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "0000316382" "00025553" "30" "3339" "0" "3339" "0" "c.3339G>A" "r.(?)" "p.(Gln1113=)" "" "0000330676" "00025553" "30" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63Gln)" "" "0000330677" "00025553" "30" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "0000330679" "00025553" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000330680" "00025553" "50" "983" "0" "983" "0" "c.983C>G" "r.(?)" "p.(Ser328Cys)" "" "0000330681" "00025553" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Ser343Asn)" "" "0000330682" "00025553" "50" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0000330683" "00025553" "50" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ser375Leu)" "" "0000330684" "00025553" "50" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Val597Ile)" "" "0000330685" "00025553" "50" "1979" "0" "1979" "0" "c.1979G>A" "r.(?)" "p.(Arg660Gln)" "" "0000330686" "00025553" "50" "2416" "0" "2416" "0" "c.2416A>C" "r.(?)" "p.(Ile806Leu)" "" "0000330687" "00025553" "50" "2691" "0" "2691" "0" "c.2691A>C" "r.(?)" "p.(Arg897Ser)" "" "0000330688" "00025553" "50" "3052" "0" "3052" "0" "c.3052A>G" "r.(?)" "p.(Arg1018Gly)" "" "0000330689" "00025553" "50" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Gln1095Ter)" "" "0000330691" "00025553" "30" "4004" "0" "4004" "0" "c.4004A>G" "r.(?)" "p.(Lys1335Arg)" "" "0000330693" "00025553" "30" "4377" "0" "4379" "0" "c.4377_4379del" "r.(?)" "p.(Lys1460del)" "" "0000330694" "00025553" "50" "7953" "0" "7953" "0" "c.*3486G>A" "r.(=)" "p.(=)" "" "0000330695" "00025553" "30" "7957" "0" "7957" "0" "c.*3490G>A" "r.(=)" "p.(=)" "" "0000337235" "00025553" "10" "-89" "0" "-89" "0" "c.-89T>G" "r.(?)" "p.(=)" "" "0000337236" "00025553" "90" "164" "1" "164" "1" "c.164+1G>A" "r.spl?" "p.?" "" "0000337237" "00025553" "10" "4490" "-10" "4490" "-10" "c.*23-10C>T" "r.(=)" "p.(=)" "" "0000339467" "00025553" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Pro526=)" "" "0000339468" "00025553" "10" "1671" "0" "1671" "0" "c.1671T>C" "r.(?)" "p.(Asp557=)" "" "0000339469" "00025553" "10" "1842" "0" "1842" "0" "c.1842A>G" "r.(?)" "p.(Ser614=)" "" "0000339470" "00025553" "90" "2478" "0" "2478" "0" "c.2478G>A" "r.(?)" "p.(Lys826=)" "" "0000341164" "00025553" "10" "4169" "0" "4169" "0" "c.4169C>T" "r.(?)" "p.(Ala1390Val)" "" "0000341409" "00025553" "30" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0000341434" "00025553" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000341543" "00025553" "10" "1993" "0" "1993" "0" "c.1993G>C" "r.(?)" "p.(Ala665Pro)" "" "0000343603" "00025553" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asn150Ser)" "" "0000344970" "00025553" "90" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Gln789Ter)" "" "0000345131" "00025553" "90" "4255" "0" "4255" "0" "c.4255G>T" "r.(?)" "p.(Glu1419Ter)" "" "0000345723" "00025553" "10" "4292" "0" "4292" "0" "c.4292G>C" "r.(?)" "p.(Gly1431Ala)" "" "0000347421" "00025553" "90" "4399" "0" "4399" "0" "c.4399A>T" "r.(?)" "p.(Lys1467Ter)" "" "0000347684" "00025553" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000348148" "00025553" "10" "3527" "0" "3527" "0" "c.3527C>G" "r.(?)" "p.(Pro1176Arg)" "" "0000348567" "00025553" "10" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Pro730Ser)" "" "0000348966" "00025553" "50" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ser375Leu)" "" "0000349229" "00025553" "30" "2969" "0" "2969" "0" "c.2969C>T" "r.(?)" "p.(Ser990Leu)" "" "0000350120" "00025553" "90" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "" "0000350121" "00025553" "90" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.(Tyr50Ser)" "" "0000350684" "00025553" "10" "2660" "0" "2660" "0" "c.2660T>C" "r.(?)" "p.(Val887Ala)" "" "0000350930" "00025553" "90" "566" "-1" "566" "-1" "c.566-1G>A" "r.spl?" "p.?" "" "0000350931" "00025553" "90" "2659" "-1" "2659" "-1" "c.2659-1G>A" "r.spl?" "p.?" "" "0000350932" "00025553" "70" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Gln1061=)" "" "0000524928" "00025553" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000524929" "00025553" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000524930" "00025553" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(Gln54=)" "" "0000524931" "00025553" "30" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63Gln)" "" "0000524932" "00025553" "30" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Thr168Met)" "" "0000524933" "00025553" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Ala193=)" "" "0000524935" "00025553" "50" "827" "0" "844" "0" "c.827_844del" "r.(?)" "p.(Gly276_Glu281del)" "" "0000524936" "00025553" "30" "827" "0" "844" "0" "c.827_844del" "r.(?)" "p.(Gly276_Glu281del)" "" "0000524937" "00025553" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Gly333=)" "" "0000524938" "00025553" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Ser343Asn)" "" "0000524940" "00025553" "30" "1086" "0" "1086" "0" "c.1086G>A" "r.(?)" "p.(Ala362=)" "" "0000524941" "00025553" "30" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Arg406Trp)" "" "0000524942" "00025553" "30" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Ser410Leu)" "" "0000524943" "00025553" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Ala427=)" "" "0000524944" "00025553" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Ala427=)" "" "0000524945" "00025553" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Pro516Leu)" "" "0000524946" "00025553" "30" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Ala521Thr)" "" "0000524948" "00025553" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Val595Ile)" "" "0000524949" "00025553" "30" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Glu622Lys)" "" "0000524950" "00025553" "30" "1993" "0" "1993" "0" "c.1993G>C" "r.(?)" "p.(Ala665Pro)" "" "0000524952" "00025553" "30" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Pro730Ser)" "" "0000524953" "00025553" "30" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Pro749Ser)" "" "0000524954" "00025553" "30" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Val839Ile)" "" "0000524955" "00025553" "30" "2623" "0" "2640" "0" "c.2623_2640del" "r.(?)" "p.(Ser875_Glu880del)" "" "0000524956" "00025553" "10" "2762" "0" "2762" "0" "c.2762C>T" "r.(?)" "p.(Pro921Leu)" "" "0000524957" "00025553" "30" "2765" "0" "2765" "0" "c.2765C>T" "r.(?)" "p.(Ser922Leu)" "" "0000524958" "00025553" "10" "2842" "0" "2842" "0" "c.2842G>T" "r.(?)" "p.(Ala948Ser)" "" "0000524960" "00025553" "30" "3620" "0" "3620" "0" "c.3620T>A" "r.(?)" "p.(Met1207Lys)" "" "0000524961" "00025553" "90" "3782" "-2" "3782" "-2" "c.3782-2A>G" "r.spl?" "p.?" "" "0000524962" "00025553" "30" "3879" "0" "3879" "0" "c.3879C>T" "r.(?)" "p.(Ser1293=)" "" "0000524963" "00025553" "30" "4096" "0" "4096" "0" "c.4096A>C" "r.(?)" "p.(Lys1366Gln)" "" "0000524966" "00025553" "30" "4329" "0" "4331" "0" "c.4329_4331del" "r.(?)" "p.(Lys1444del)" "" "0000524967" "00025553" "30" "4329" "0" "4331" "0" "c.4329_4331del" "r.(?)" "p.(Lys1444del)" "" "0000524968" "00025553" "90" "4369" "0" "4373" "0" "c.4369_4373del" "r.(?)" "p.(Lys1457GlufsTer12)" "" "0000609588" "00025553" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Gln329Ter)" "" "0000609589" "00025553" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "" "0000609590" "00025553" "30" "1995" "0" "1995" "0" "c.1995C>G" "r.(?)" "p.(Ala665=)" "" "0000639829" "00025553" "33" "-59" "0" "-59" "0" "c.-59G>A" "r.(?)" "p.(=)" "1" "0000639830" "00025553" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000639831" "00025553" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "0000639832" "00025553" "99" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Leu10Tyrfs*4)" "1" "0000639833" "00025553" "99" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "1" "0000639834" "00025553" "99" "41" "0" "41" "0" "c.41del" "r.(?)" "p.(Ile14Thrfs*17)" "1" "0000639835" "00025553" "99" "42" "0" "42" "0" "c.42C>G" "r.(?)" "p.(Ile14Met)" "1" "0000639836" "00025553" "99" "48" "0" "50" "0" "c.48_50del" "r.(?)" "p.(His17del)" "1" "0000639837" "00025553" "99" "50" "0" "50" "0" "c.50A>G" "r.(?)" "p.(His17Arg)" "1" "0000639838" "00025553" "99" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Ala21Leufs*10)" "1" "0000639839" "00025553" "99" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "1" "0000639840" "00025553" "99" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ala26Val)" "1" "0000639841" "00025553" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Ala27Thr)" "1" "0000639842" "00025553" "99" "87" "0" "87" "0" "c.87del" "r.(?)" "p.(Val30*)" "1" "0000639843" "00025553" "99" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Gln36*)" "1" "0000639844" "00025553" "99" "109" "-2" "109" "-2" "c.109-2A>T" "r.spl" "p.?" "1i" "0000639845" "00025553" "99" "109" "-1" "109" "-1" "c.109-1del" "r.spl" "p.?" "1i" "0000639846" "00025553" "99" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "2" "0000639847" "00025553" "99" "157" "0" "157" "0" "c.157T>C" "r.(?)" "p.(Trp53Arg)" "2" "0000639848" "00025553" "99" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Trp53*)" "2" "0000639849" "00025553" "99" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "2" "0000639850" "00025553" "99" "218" "0" "219" "0" "c.218_219insAACC" "r.(?)" "p.(Lys74Thrfs*2)" "3" "0000639851" "00025553" "99" "274" "0" "274" "0" "c.274del" "r.(?)" "p.(Glu92Lysfs*14)" "3" "0000639852" "00025553" "99" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Glu93*)" "3" "0000639853" "00025553" "99" "303" "0" "304" "0" "c.303_304del" "r.(?)" "p.(Thr102Profs*72)" "3" "0000639854" "00025553" "99" "304" "5" "304" "5" "c.304+5G>C" "r.spl?" "p.?" "3i" "0000639855" "00025553" "99" "305" "-1" "305" "-1" "c.305-1G>A" "r.spl" "p.?" "3i" "0000639856" "00025553" "99" "343" "0" "343" "0" "c.343del" "r.(?)" "p.(Ala115Argfs*7)" "4" "0000639857" "00025553" "99" "357" "0" "358" "0" "c.357_358del" "r.(?)" "p.(Ser120Hisfs*54)" "4" "0000639858" "00025553" "99" "376" "0" "378" "15" "c.376_378+15del" "r.spl" "p.?" "4" "0000639859" "00025553" "99" "379" "-2" "379" "-2" "c.379-2A>G" "r.spl" "p.?" "4i" "0000639860" "00025553" "99" "386" "0" "387" "0" "c.386_387del" "r.(?)" "p.(Thr129Argfs*45)" "5" "0000639861" "00025553" "99" "389" "0" "389" "0" "c.389dup" "r.(?)" "p.(Lys131Glufs*44)" "5" "0000639862" "00025553" "99" "390" "0" "391" "0" "c.390_391del" "r.(?)" "p.(Lys131Serfs*43)" "5" "0000639863" "00025553" "99" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Gly136Glufs*38)" "5" "0000639864" "00025553" "99" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Asn137Ilefs*82)" "5" "0000639865" "00025553" "99" "422" "0" "422" "0" "c.422dup" "r.(?)" "p.(His141Glnfs*34)" "5" "0000639866" "00025553" "99" "431" "0" "431" "0" "c.431del" "r.(?)" "p.(Thr144Metfs*75)" "5" "0000639867" "00025553" "99" "475" "0" "475" "0" "c.475A>T" "r.(?)" "p.(Lys159*)" "5" "0000639868" "00025553" "99" "497" "0" "500" "0" "c.497_500del" "r.(?)" "p.(Asn166Ilefs*52)" "5" "0000639869" "00025553" "99" "514" "0" "515" "0" "c.514_515del" "r.(?)" "p.(Glu172Asnfs*2)" "5" "0000639870" "00025553" "99" "519" "0" "519" "0" "c.519del" "r.(?)" "p.(Glu174Argfs*45)" "5" "0000639871" "00025553" "99" "565" "1" "565" "1" "c.565+1G>A" "r.spl" "p.?" "5i" "0000639872" "00025553" "99" "566" "-10" "566" "-10" "c.566-10C>A" "r.spl?" "p.?" "5i" "0000639873" "00025553" "99" "574" "0" "589" "0" "c.574_589del" "r.(?)" "p.(Ser192Thrfs*22)" "" "0000639874" "00025553" "99" "599" "0" "599" "0" "c.599del" "r.(?)" "p.(Ser200Thrfs*19)" "" "0000639875" "00025553" "99" "618" "0" "618" "0" "c.618del" "r.(?)" "p.(Ser207Valfs*12)" "" "0000639876" "00025553" "99" "631" "0" "632" "0" "c.631_632del" "r.(?)" "p.(Asp211Argfs*20)" "" "0000639877" "00025553" "99" "639" "1" "639" "1" "c.639+1G>A" "r.spl" "p.?" "" "0000639878" "00025553" "99" "726" "0" "726" "0" "c.726del" "r.(?)" "p.(Lys244Argfs*5)" "" "0000639879" "00025553" "99" "889" "0" "889" "0" "c.889del" "r.(?)" "p.(Ile297Phefs*30)" "" "0000639880" "00025553" "99" "932" "0" "932" "0" "c.932del" "r.(?)" "p.(Pro311Leufs*16)" "" "0000639881" "00025553" "99" "951" "0" "958" "0" "c.951_958del" "r.(?)" "p.(Ala318Trpfs*28)" "" "0000639882" "00025553" "99" "959" "0" "959" "0" "c.959dup" "r.(?)" "p.(Gly321Trpfs*28)" "" "0000639883" "00025553" "99" "975" "0" "975" "0" "c.975dup" "r.(?)" "p.(Val326Cysfs*23)" "" "0000639884" "00025553" "99" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Gln329*)" "" "0000639885" "00025553" "99" "1016" "0" "1016" "0" "c.1016C>G" "r.(?)" "p.(Ser339*)" "" "0000639886" "00025553" "99" "1017" "0" "1017" "0" "c.1017del" "r.(?)" "p.(Glu340Argfs*153)" "" "0000639887" "00025553" "99" "1021" "0" "1022" "0" "c.1021_1022del" "r.(?)" "p.(Ser341Glnfs*7)" "" "0000639888" "00025553" "99" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Ser349Gly)" "" "0000639889" "00025553" "33" "1086" "0" "1086" "0" "c.1086G>A" "r.(=)" "p.(=)" "" "0000639890" "00025553" "99" "1095" "0" "1096" "0" "c.1095_1096del" "r.(?)" "p.(Gly366Lysfs*54)" "" "0000639891" "00025553" "99" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Gly366*)" "" "0000639892" "00025553" "33" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(=)" "" "0000639893" "00025553" "99" "1246" "0" "1246" "0" "c.1246G>T" "r.(?)" "p.(Glu416*)" "" "0000639894" "00025553" "99" "1303" "0" "1303" "0" "c.1303del" "r.(?)" "p.(Gln435Argfs*58)" "" "0000639895" "00025553" "99" "1303" "0" "1303" "0" "c.1303dup" "r.(?)" "p.(Gln435Profs*23)" "" "0000639896" "00025553" "99" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Ala439Thr)" "" "0000639897" "00025553" "99" "1329" "0" "1329" "0" "c.1329del" "r.(?)" "p.(Lys444Argfs*49)" "" "0000639898" "00025553" "99" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Lys444*)" "" "0000639899" "00025553" "99" "1341" "0" "1341" "0" "c.1341dup" "r.(?)" "p.(Arg448Glnfs*10)" "" "0000639900" "00025553" "99" "1351" "0" "1351" "0" "c.1351del" "r.(?)" "p.(Ala451Leufs*42)" "" "0000639901" "00025553" "99" "1395" "0" "1396" "0" "c.1395_1396insT" "r.(?)" "p.(Val466Cysfs*20)" "" "0000639902" "00025553" "99" "1446" "0" "1446" "0" "c.1446dup" "r.(?)" "p.(Asp483Argfs*3)" "" "0000639903" "00025553" "99" "1473" "0" "1473" "0" "c.1473dup" "r.(?)" "p.(Met492Hisfs*58)" "" "0000639904" "00025553" "99" "1518" "0" "1518" "0" "c.1518dup" "r.(?)" "p.(Lys507Glufs*43)" "" "0000639905" "00025553" "99" "1557" "0" "1557" "0" "c.1557dup" "r.(?)" "p.(Gly520Argfs*30)" "" "0000639906" "00025553" "99" "1581" "0" "1581" "0" "c.1581del" "r.(?)" "p.(Lys528Argfs*68)" "" "0000639907" "00025553" "99" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Gln537*)" "" "0000639908" "00025553" "99" "1637" "0" "1640" "0" "c.1637_1640del" "r.(?)" "p.(Glu546Alafs*49)" "" "0000639909" "00025553" "99" "1639" "0" "1640" "0" "c.1639_1640del" "r.(?)" "p.(Ser547Glnfs*2)" "" "0000639910" "00025553" "99" "1658" "0" "1658" "0" "c.1658C>G" "r.(?)" "p.(Ser553*)" "" "0000639911" "00025553" "99" "1672" "0" "1673" "0" "c.1672_1673dup" "r.(?)" "p.(Val560Argfs*37)" "" "0000639912" "00025553" "99" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Gln568*)" "" "0000639913" "00025553" "99" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Gln577*)" "" "0000639914" "00025553" "99" "1782" "0" "1788" "0" "c.1782_1788del" "r.(?)" "p.(Val595Serfs*31)" "" "0000639915" "00025553" "99" "1783" "0" "1783" "0" "c.1783del" "r.(?)" "p.(Val595*)" "" "0000639916" "00025553" "99" "1796" "0" "1796" "0" "c.1796T>C" "r.(?)" "p.(Val599Ala)" "" "0000639917" "00025553" "99" "1813" "0" "1814" "0" "c.1813_1814del" "r.(?)" "p.(Met605Glyfs*16)" "" "0000639918" "00025553" "99" "1837" "0" "1837" "0" "c.1837del" "r.(?)" "p.(Glu613Serfs*15)" "" "0000639919" "00025553" "33" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(=)" "" "0000639920" "00025553" "99" "1907" "0" "1907" "0" "c.1907del" "r.(?)" "p.(Leu636Argfs*75)" "" "0000639921" "00025553" "99" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Gln640*)" "" "0000639922" "00025553" "99" "1952" "0" "1956" "0" "c.1952_1956del" "r.(?)" "p.(Thr651Ilefs*45)" "" "0000639923" "00025553" "33" "1953" "0" "1953" "0" "c.1953T>C" "r.(?)" "p.(=)" "" "0000639924" "00025553" "99" "1973" "0" "1973" "0" "c.1973del" "r.(?)" "p.(Pro658Leufs*53)" "" "0000639925" "00025553" "99" "1973" "0" "1973" "0" "c.1973dup" "r.(?)" "p.(Val659Cysfs*39)" "" "0000639926" "00025553" "99" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Arg660*)" "" "0000639927" "00025553" "99" "1993" "0" "1993" "0" "c.1993del" "r.(?)" "p.(Ala665Profs*46)" "" "0000639928" "00025553" "99" "1999" "0" "1999" "0" "c.1999dup" "r.(?)" "p.(Arg667Profs*31)" "" "0000639929" "00025553" "99" "2033" "0" "2033" "0" "c.2033C>A" "r.(?)" "p.(Ser678*)" "" "0000639930" "00025553" "99" "2065" "0" "2075" "0" "c.2065_2075del" "r.(?)" "p.(Pro689Phefs*5)" "" "0000639931" "00025553" "99" "2081" "0" "2081" "0" "c.2081C>G" "r.(?)" "p.(Ser694*)" "" "0000639932" "00025553" "99" "2098" "0" "2099" "0" "c.2098_2099del" "r.(?)" "p.(Asp700*)" "" "0000639933" "00025553" "99" "2099" "0" "2106" "0" "c.2099_2106del" "r.(?)" "p.(Asp700Glyfs*55)" "" "0000639934" "00025553" "99" "2099" "0" "2102" "0" "c.2099_2102del" "r.(?)" "p.(Asp700Valfs*10)" "" "0000639935" "00025553" "99" "2103" "0" "2106" "0" "c.2103_2106del" "r.(?)" "p.(Ser701Argfs*9)" "" "0000639936" "00025553" "99" "2112" "0" "2116" "0" "c.2112_2116del" "r.(?)" "p.(Glu704Aspfs*52)" "" "0000639937" "00025553" "99" "2142" "1" "2142" "1" "c.2142+1G>A" "r.spl" "p.?" "" "0000639938" "00025553" "33" "2142" "22" "2142" "22" "c.2142+22C>T" "r.spl?" "p.?" "" "0000639939" "00025553" "99" "2146" "0" "2147" "0" "c.2146_2147del" "r.(?)" "p.(Lys716Valfs*41)" "" "0000639940" "00025553" "99" "2157" "0" "2157" "0" "c.2157dup" "r.(?)" "p.(Lys720Glufs*38)" "" "0000639941" "00025553" "99" "2164" "0" "2164" "0" "c.2164del" "r.(?)" "p.(Leu722Serfs*3)" "" "0000639942" "00025553" "99" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Gln723*)" "" "0000639943" "00025553" "99" "2244" "0" "2244" "0" "c.2244dup" "r.(?)" "p.(Pro749Alafs*9)" "" "0000639944" "00025553" "99" "2250" "0" "2256" "0" "c.2250_2256del" "r.(?)" "p.(Val751Argfs*2)" "" "0000639945" "00025553" "99" "2252" "0" "2259" "0" "c.2252_2259del" "r.(?)" "p.(Val751Glyfs*4)" "" "0000639946" "00025553" "99" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Gln753*)" "" "0000639947" "00025553" "99" "2285" "0" "2286" "0" "c.2285_2286del" "r.(?)" "p.(Ser762*)" "" "0000639948" "00025553" "99" "2287" "0" "2287" "0" "c.2287G>T" "r.(?)" "p.(Glu763*)" "" "0000639949" "00025553" "99" "2290" "0" "2291" "0" "c.2290_2291del" "r.(?)" "p.(Ser764Glnfs*2)" "" "0000639950" "00025553" "99" "2313" "0" "2316" "0" "c.2313_2316del" "r.(?)" "p.(Ser771Argfs*10)" "" "0000639951" "00025553" "99" "2341" "-2" "2341" "-2" "c.2341-2A>G" "r.spl" "p.?" "" "0000639952" "00025553" "99" "2341" "0" "2341" "0" "c.2341del" "r.(?)" "p.(Val781*)" "" "0000639953" "00025553" "99" "2426" "0" "2426" "0" "c.2426del" "r.(?)" "p.(Pro809Leufs*19)" "" "0000639954" "00025553" "99" "2437" "0" "2437" "0" "c.2437delinsTT" "r.(?)" "p.(Val813Phefs*60)" "" "0000639955" "00025553" "99" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Gln818*)" "" "0000639956" "00025553" "99" "2473" "0" "2476" "0" "c.2473_2476del" "r.(?)" "p.(Ser825Argfs*2)" "" "0000639957" "00025553" "99" "2478" "0" "2478" "0" "c.2478G>A" "r.(?)" "p.(=)" "" "0000639958" "00025553" "99" "2478" "5" "2478" "5" "c.2478+5G>C" "r.spl?" "p.?" "" "0000639959" "00025553" "99" "2490" "0" "2490" "0" "c.2490del" "r.(?)" "p.(Val831*)" "" "0000639960" "00025553" "99" "2503" "0" "2503" "0" "c.2503C>T" "r.(?)" "p.(Gln835*)" "" "0000639961" "00025553" "99" "2528" "0" "2528" "0" "c.2528del" "r.(?)" "p.(Gly843Alafs*45)" "" "0000639962" "00025553" "99" "2575" "0" "2575" "0" "c.2575C>G" "r.(?)" "p.(Gln859Glu)" "" "0000639963" "00025553" "99" "2585" "0" "2594" "0" "c.2585_2594del" "r.(?)" "p.(Thr862Argfs*23)" "" "0000639964" "00025553" "99" "2586" "0" "2587" "0" "c.2586_2587del" "r.(?)" "p.(Gly863Alafs*9)" "" "0000639965" "00025553" "99" "2606" "0" "2607" "0" "c.2606_2607del" "r.(?)" "p.(Gly869Glufs*3)" "" "0000639966" "00025553" "99" "2617" "0" "2617" "0" "c.2617G>T" "r.(?)" "p.(Glu873*)" "" "0000639967" "00025553" "99" "2617" "0" "2617" "0" "c.2617del" "r.(?)" "p.(Glu873Argfs*15)" "" "0000639968" "00025553" "99" "2626" "0" "2627" "0" "c.2626_2627del" "r.(?)" "p.(Asp876Glnfs*2)" "" "0000639969" "00025553" "99" "2631" "0" "2634" "0" "c.2631_2634del" "r.(?)" "p.(Ser877Argfs*10)" "" "0000639970" "00025553" "77" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(Gln886*)" "" "0000639971" "00025553" "99" "2659" "-2" "2659" "-2" "c.2659-2A>C" "r.spl" "p.?" "" "0000639972" "00025553" "99" "2673" "0" "2673" "0" "c.2673del" "r.(?)" "p.(Lys892Argfs*58)" "" "0000639973" "00025553" "99" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Gln895*)" "" "0000639974" "00025553" "99" "2713" "0" "2713" "0" "c.2713G>T" "r.(?)" "p.(Glu905*)" "" "0000639975" "00025553" "99" "2721" "0" "2721" "0" "c.2721del" "r.(?)" "p.(Arg908Glyfs*42)" "" "0000639976" "00025553" "99" "2731" "0" "2731" "0" "c.2731del" "r.(?)" "p.(Ala911Leufs*39)" "" "0000639977" "00025553" "99" "2757" "0" "2758" "0" "c.2757_2758del" "r.(?)" "p.(Gly920Alafs*11)" "" "0000639978" "00025553" "99" "2758" "0" "2759" "0" "c.2758_2759insA" "r.(?)" "p.(Gly920Glufs*12)" "" "0000639979" "00025553" "99" "2760" "0" "2760" "0" "c.2760dup" "r.(?)" "p.(Pro921Alafs*11)" "" "0000639980" "00025553" "99" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Gln925*)" "" "0000639981" "00025553" "99" "2776" "0" "2776" "0" "c.2776del" "r.(?)" "p.(Ala926Glnfs*24)" "" "0000639982" "00025553" "99" "2783" "0" "2792" "0" "c.2783_2792delinsGCAGGATG" "r.(?)" "p.(Lys928Serfs*14)" "" "0000639983" "00025553" "99" "2796" "0" "2797" "0" "c.2796_2797del" "r.(?)" "p.(Gly933Glufs*9)" "" "0000639984" "00025553" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Glu944Glyfs*6)" "" "0000639985" "00025553" "99" "2833" "0" "2845" "0" "c.2833_2845del" "r.(?)" "p.(Ala945*)" "" "0000639986" "00025553" "99" "2853" "0" "2853" "0" "c.2853dup" "r.(?)" "p.(Ala952Cysfs*5)" "" "0000639987" "00025553" "33" "2859" "26" "2859" "26" "c.2859+26A>G" "r.spl?" "p.?" "" "0000639988" "00025553" "33" "2859" "3389" "2859" "3389" "c.2859+3389G>T" "r.spl?" "p.?" "" "0000639989" "00025553" "99" "2860" "-3" "2860" "-3" "c.2860-3A>G" "r.spl?" "p.?" "" "0000639990" "00025553" "99" "2860" "-1" "2860" "-1" "c.2860-1G>A" "r.spl" "p.?" "" "0000639991" "00025553" "99" "2860" "-1" "2860" "-1" "c.2860-1G>C" "r.spl" "p.?" "" "0000639992" "00025553" "99" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Val954Met)" "" "0000639993" "00025553" "99" "2876" "0" "2876" "0" "c.2876dup" "r.(?)" "p.(Ile960Aspfs*6)" "" "0000639994" "00025553" "99" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000639995" "00025553" "99" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988*)" "" "0000639996" "00025553" "99" "2969" "0" "2969" "0" "c.2969C>A" "r.(?)" "p.(Ser990*)" "" "0000639997" "00025553" "99" "2971" "0" "2971" "0" "c.2971G>T" "r.(?)" "p.(Glu991*)" "" "0000639998" "00025553" "99" "3031" "0" "3031" "0" "c.3031C>T" "r.(?)" "p.(Gln1011*)" "" "0000639999" "00025553" "99" "3046" "1" "3046" "1" "c.3046+1del" "r.spl" "p.?" "" "0000640000" "00025553" "99" "3046" "1" "3046" "1" "c.3046+1G>A" "r.spl" "p.?" "" "0000640001" "00025553" "99" "3047" "-2" "3047" "-2" "c.3047-2A>T" "r.spl" "p.?" "" "0000640002" "00025553" "99" "3047" "-1" "3047" "-1" "c.3047-1G>A" "r.spl" "p.?" "" "0000640003" "00025553" "99" "3053" "0" "3054" "0" "c.3053_3054del" "r.(?)" "p.(Arg1018Asnfs*68)" "" "0000640004" "00025553" "99" "3077" "0" "3077" "0" "c.3077del" "r.(?)" "p.(Thr1026Metfs*6)" "" "0000640005" "00025553" "99" "3107" "0" "3107" "0" "c.3107dup" "r.(?)" "p.(Ser1036Argfs*51)" "" "0000640006" "00025553" "99" "3112" "0" "3112" "0" "c.3112del" "r.(?)" "p.(Ala1038Leufs*35)" "" "0000640007" "00025553" "99" "3118" "0" "3118" "0" "c.3118dup" "r.(?)" "p.(Ala1040Glyfs*47)" "" "0000640008" "00025553" "99" "3156" "0" "3156" "0" "c.3156C>T" "r.(?)" "p.(=)" "" "0000640009" "00025553" "99" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Gln1055*)" "" "0000640010" "00025553" "99" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(=)" "" "0000640011" "00025553" "99" "3183" "0" "3183" "0" "c.3183G>T" "r.(?)" "p.(Gln1061His)" "" "0000640012" "00025553" "99" "3229" "0" "3229" "0" "c.3229del" "r.(?)" "p.(Leu1077*)" "" "0000640013" "00025553" "99" "3314" "0" "3314" "0" "c.3314del" "r.(?)" "p.(Gly1105Glufs*103)" "" "0000640014" "00025553" "99" "3316" "0" "3316" "0" "c.3316del" "r.(?)" "p.(Thr1106Hisfs*102)" "" "0000640015" "00025553" "99" "3317" "0" "3323" "0" "c.3317_3323del" "r.(?)" "p.(Thr1106Metfs*100)" "" "0000640016" "00025553" "99" "3331" "0" "3331" "0" "c.3331del" "r.(?)" "p.(Ser1111Valfs*97)" "" "0000640017" "00025553" "99" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(Gln1118*)" "" "0000640018" "00025553" "99" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Gln1134*)" "" "0000640019" "00025553" "99" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Asp1148Asn)" "" "0000640020" "00025553" "99" "3456" "0" "3463" "0" "c.3456_3463del" "r.(?)" "p.(Ser1152Argfs*3)" "" "0000640021" "00025553" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Gln1164*)" "" "0000640022" "00025553" "33" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(=)" "" "0000640023" "00025553" "99" "3544" "0" "3544" "0" "c.3544del" "r.(?)" "p.(Leu1182Trpfs*26)" "" "0000640024" "00025553" "99" "3600" "1" "3600" "1" "c.3600+1del" "r.spl" "p.?" "" "0000640025" "00025553" "33" "3600" "64" "3600" "64" "c.3600+64dup" "r.spl?" "p.?" "" "0000640026" "00025553" "99" "3607" "0" "3611" "0" "c.3607_3611del" "r.(?)" "p.(Leu1203Argfs*36)" "" "0000640027" "00025553" "99" "3611" "0" "3611" "0" "c.3611C>G" "r.(?)" "p.(Ser1204*)" "" "0000640028" "00025553" "99" "3612" "0" "3612" "0" "c.3612A>C" "r.(?)" "p.(=)" "" "0000640029" "00025553" "99" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Gly1205Ser)" "" "0000640030" "00025553" "77" "3700" "0" "3704" "0" "c.3700_3704del" "r.(?)" "p.(Thr1234Glyfs*5)" "" "0000640031" "00025553" "99" "3745" "0" "3747" "0" "c.3745_3747delinsA" "r.(?)" "p.(Pro1249Thrfs*10)" "" "0000640032" "00025553" "77" "3758" "0" "3758" "0" "c.3758C>G" "r.(?)" "p.(Ala1253Gly)" "" "0000640033" "00025553" "99" "3781" "1" "3781" "1" "c.3781+1G>A" "r.spl" "p.?" "" "0000640034" "00025553" "99" "3781" "2" "3781" "2" "c.3781+2dup" "r.spl?" "p.?" "" "0000640035" "00025553" "99" "3823" "0" "3823" "0" "c.3823del" "r.(?)" "p.(Arg1275Glyfs*32)" "" "0000640036" "00025553" "99" "3837" "0" "3838" "0" "c.3837_3838del" "r.(?)" "p.(Ala1281Trpfs*27)" "" "0000640037" "00025553" "99" "3853" "0" "3853" "0" "c.3853del" "r.(?)" "p.(Gln1285Lysfs*22)" "" "0000640038" "00025553" "99" "3853" "0" "3853" "0" "c.3853dup" "r.(?)" "p.(Gln1285Profs*24)" "" "0000640039" "00025553" "99" "3870" "0" "3870" "0" "c.3870del" "r.(?)" "p.(Leu1291Cysfs*16)" "" "0000640040" "00025553" "99" "3931" "0" "3931" "0" "c.3931del" "r.(?)" "p.(Val1311Cysfs*6)" "" "0000640041" "00025553" "33" "3942" "0" "3942" "0" "c.3942A>C" "r.(?)" "p.(=)" "" "0000640042" "00025553" "99" "3942" "0" "3943" "0" "c.3942_3943del" "r.(?)" "p.(Val1315Glyfs*6)" "" "0000640043" "00025553" "99" "3983" "0" "3986" "0" "c.3983_3986del" "r.(?)" "p.(Lys1328Argfs*246)" "" "0000640044" "00025553" "99" "4011" "0" "4011" "0" "c.4011dup" "r.(?)" "p.(Ser1338Glnfs*61)" "" "0000640045" "00025553" "99" "4023" "0" "4023" "0" "c.4023del" "r.(?)" "p.(Trp1342Glyfs*233)" "" "0000640046" "00025553" "99" "4061" "0" "4061" "0" "c.4061del" "r.(?)" "p.(Pro1354Glnfs*221)" "" "0000640047" "00025553" "99" "4096" "0" "4098" "0" "c.4096_4098del" "r.(?)" "p.(Lys1366del)" "" "0000640048" "00025553" "99" "4127" "0" "4128" "0" "c.4127_4128del" "r.(?)" "p.(Ser1376Cysfs*22)" "" "0000640049" "00025553" "99" "4131" "0" "4132" "0" "c.4131_4132del" "r.(?)" "p.(Ser1378Profs*20)" "" "0000640050" "00025553" "99" "4132" "0" "4132" "0" "c.4132del" "r.(?)" "p.(Ser1378Profs*197)" "" "0000640051" "00025553" "99" "4164" "0" "4164" "0" "c.4164dup" "r.(?)" "p.(Lys1389Glufs*10)" "" "0000640052" "00025553" "99" "4177" "0" "4178" "0" "c.4177_4178del" "r.(?)" "p.(Asp1393Glnfs*5)" "" "0000640053" "00025553" "99" "4207" "0" "4211" "0" "c.4207_4211del" "r.(?)" "p.(Lys1403Glufs*25)" "" "0000640054" "00025553" "99" "4218" "0" "4218" "0" "c.4218dup" "r.(?)" "p.(Ser1407Valfs*23)" "" "0000640055" "00025553" "99" "4219" "0" "4219" "0" "c.4219del" "r.(?)" "p.(Ser1407Leufs*168)" "" "0000640056" "00025553" "99" "4231" "0" "4231" "0" "c.4231C>T" "r.(?)" "p.(Gln1411*)" "" "0000640057" "00025553" "99" "4256" "0" "4269" "0" "c.4256_4269del" "r.(?)" "p.(Glu1419Glyfs*6)" "" "0000640058" "00025553" "33" "4295" "0" "4296" "0" "c.4295_4296delinsGA" "r.(?)" "p.(Asp1432Gly)" "" "0000640059" "00025553" "99" "4321" "0" "4321" "0" "c.4321del" "r.(?)" "p.(Glu1441Argfs*134)" "" "0000640060" "00025553" "99" "4339" "0" "4340" "0" "c.4339_4340del" "r.(?)" "p.(Lys1447Glufs*23)" "" "0000640061" "00025553" "99" "4342" "0" "4342" "0" "c.4342A>T" "r.(?)" "p.(Arg1448*)" "" "0000640062" "00025553" "99" "4342" "1" "4342" "1" "c.4342+1G>T" "r.spl" "p.?" "" "0000640063" "00025553" "99" "4343" "-1" "4355" "0" "c.4343-1_4355dup" "r.spl" "p.?" "" "0000640064" "00025553" "99" "4350" "0" "4350" "0" "c.4350dup" "r.(?)" "p.(Asp1451Argfs*20)" "" "0000640065" "00025553" "99" "4353" "0" "4354" "0" "c.4353_4354del" "r.(?)" "p.(Asp1451Glufs*19)" "" "0000640066" "00025553" "99" "4355" "0" "4356" "0" "c.4355_4356del" "r.(?)" "p.(Lys1452Argfs*18)" "" "0000640067" "00025553" "99" "4357" "0" "4357" "0" "c.4357dup" "r.(?)" "p.(Glu1453Glyfs*18)" "" "0000640068" "00025553" "99" "4361" "0" "4365" "0" "c.4361_4365del" "r.(?)" "p.(Lys1454Argfs*15)" "" "0000640069" "00025553" "99" "4362" "0" "4365" "0" "c.4362_4365del" "r.(?)" "p.(Glu1456Argfs*118)" "" "0000640070" "00025553" "99" "4363" "0" "4365" "0" "c.4363_4365delinsTAG" "r.(?)" "p.(Lys1455*)" "" "0000640071" "00025553" "99" "4365" "0" "4365" "0" "c.4365del" "r.(?)" "p.(Glu1456Lysfs*119)" "" "0000640072" "00025553" "99" "4366" "0" "4369" "0" "c.4366_4369del" "r.(?)" "p.(Glu1456Argfs*118)" "" "0000640073" "00025553" "99" "4366" "0" "4366" "0" "c.4366dup" "r.(?)" "p.(Glu1456Glyfs*15)" "" "0000640074" "00025553" "99" "4367" "0" "4384" "0" "c.4367_4384delinsGAAAAGAAGAAGAAAGC" "r.(?)" "p.(Glu1456Glyfs*119)" "" "0000640075" "00025553" "99" "4369" "0" "4373" "0" "c.4369_4373del" "r.(?)" "p.(Lys1457Glufs*12)" "" "0000640076" "00025553" "99" "4387" "0" "4388" "0" "c.4387_4388del" "r.(?)" "p.(Lys1463Glyfs*7)" "" "0000640077" "00025553" "99" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Gln1474*)" "" "0000640078" "00025553" "33" "4440" "106" "4440" "106" "c.4440+106G>T" "r.spl?" "p.?" "" "0000651654" "00025553" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Ser343Asn)" "" "0000653374" "00025553" "90" "1248" "0" "1248" "0" "c.1248del" "r.(?)" "p.(Glu416Aspfs*77)" "" "0000653563" "00025553" "90" "150" "0" "150" "0" "c.150T>A" "r.(?)" "p.(Tyr50*)" "" "0000655337" "00025553" "30" "3709" "0" "3709" "0" "c.3709G>A" "r.(?)" "p.(Ala1237Thr)" "" "0000665547" "00025553" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "" "0000670270" "00025553" "90" "1999" "0" "1999" "0" "c.1999dup" "r.(?)" "p.(Arg667Profs*31)" "" "0000670271" "00025553" "90" "4218" "0" "4218" "0" "c.4218dup" "r.(?)" "p.(Ser1407Valfs*23)" "" "0000670272" "00025553" "90" "4369" "0" "4373" "0" "c.4369_4373del" "r.(?)" "p.(Lys1457Glufs*12)" "" "0000670273" "00025553" "90" "939" "0" "939" "0" "c.939dup" "r.(?)" "p.(Gly314Argfs*35)" "" "0000670274" "00025553" "90" "1766" "0" "1766" "0" "c.1766del" "r.(?)" "p.(Pro589Leufs*7)" "" "0000670277" "00025553" "90" "1766" "0" "1766" "0" "c.1766del" "r.(?)" "p.(Pro589Leufs*7)" "" "0000677441" "00025553" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000677442" "00025553" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000677443" "00025553" "30" "1538" "0" "1538" "0" "c.1538G>T" "r.(?)" "p.(Gly513Val)" "" "0000677444" "00025553" "30" "3426" "0" "3426" "0" "c.3426C>T" "r.(?)" "p.(Ser1142=)" "" "0000677445" "00025553" "30" "4245" "0" "4245" "0" "c.4245C>T" "r.(?)" "p.(Asp1415=)" "" "0000677446" "00025553" "90" "4326" "0" "4326" "0" "c.4326dup" "r.(?)" "p.(Lys1443GlufsTer28)" "" "0000689466" "00025553" "30" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" "" "0000720285" "00025553" "50" "1278" "3" "1278" "3" "c.1278+3G>T" "r.spl?" "p.?" "" "0000720286" "00025553" "30" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Arg457=)" "" "0000720287" "00025553" "30" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Leu572=)" "" "0000720288" "00025553" "30" "2762" "0" "2762" "0" "c.2762C>T" "r.(?)" "p.(Pro921Leu)" "" "0000720289" "00025553" "50" "2859" "4019" "2859" "4021" "c.2859+4019_2859+4021del" "r.(=)" "p.(=)" "" "0000720290" "00025553" "50" "3046" "6" "3046" "6" "c.3046+6C>T" "r.(=)" "p.(=)" "" "0000720291" "00025553" "30" "3183" "3" "3183" "3" "c.3183+3A>G" "r.spl?" "p.?" "" "0000720292" "00025553" "90" "3223" "0" "3223" "0" "c.3223del" "r.(?)" "p.(Ala1075LeufsTer3)" "" "0000720293" "00025553" "30" "3620" "0" "3620" "0" "c.3620T>A" "r.(?)" "p.(Met1207Lys)" "" "0000720294" "00025553" "30" "4335" "0" "4335" "0" "c.4335C>T" "r.(?)" "p.(Ser1445=)" "" "0000730074" "00025553" "90" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(Gln886*)" "" "0000801968" "00025553" "30" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0000801969" "00025553" "30" "1299" "0" "1299" "0" "c.1299C>A" "r.(?)" "p.(Ala433=)" "" "0000801970" "00025553" "30" "3168" "0" "3168" "0" "c.3168G>A" "r.(?)" "p.(Glu1056=)" "" "0000801971" "00025553" "30" "3709" "0" "3709" "0" "c.3709G>A" "r.(?)" "p.(Ala1237Thr)" "" "0000844555" "00025553" "30" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Thr168Met)" "5" "0000844558" "00025553" "10" "1993" "0" "1993" "0" "c.1993G>C" "r.(?)" "p.(Ala665Pro)" "12" "0000844559" "00025553" "10" "2660" "0" "2660" "0" "c.2660T>C" "r.(?)" "p.(Val887Ala)" "16" "0000846934" "00025553" "10" "3527" "0" "3527" "0" "c.3527C>G" "r.(?)" "p.(Pro1176Arg)" "21" "0000846951" "00025553" "10" "4169" "0" "4169" "0" "c.4169C>T" "r.(?)" "p.(Ala1390Val)" "23" "0000847027" "00025553" "10" "4292" "0" "4292" "0" "c.4292G>C" "r.(?)" "p.(Gly1431Ala)" "23" "0000847529" "00025553" "10" "1761" "0" "1761" "0" "c.1761G>T" "r.(=)" "p.(Gly587=)" "12" "0000850842" "00025553" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000850843" "00025553" "30" "3999" "0" "3999" "0" "c.3999C>T" "r.(?)" "p.(Thr1333=)" "" "0000850844" "00025553" "90" "4218" "0" "4218" "0" "c.4218dup" "r.(?)" "p.(Ser1407ValfsTer23)" "" "0000850845" "00025553" "50" "4432" "0" "4440" "0" "c.4432_4440del" "r.(?)" "p.(Lys1480_Lys1482del)" "" "0000859837" "00025553" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Gly189Glu)" "" "0000859838" "00025553" "30" "639" "6" "639" "6" "c.639+6T>G" "r.(=)" "p.(=)" "" "0000859839" "00025553" "50" "966" "0" "966" "0" "c.966G>T" "r.(?)" "p.(Lys322Asn)" "" "0000859840" "00025553" "30" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000859841" "00025553" "30" "1133" "0" "1133" "0" "c.1133C>T" "r.(?)" "p.(Ala378Val)" "" "0000859842" "00025553" "10" "1761" "0" "1761" "0" "c.1761G>T" "r.(?)" "p.(Gly587=)" "" "0000859844" "00025553" "30" "2000" "0" "2000" "0" "c.2000G>A" "r.(?)" "p.(Arg667Gln)" "" "0000859845" "00025553" "30" "3438" "0" "3438" "0" "c.3438T>G" "r.(?)" "p.(Ser1146Arg)" "" "0000886698" "00025553" "30" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Ala238Val)" "" "0000886699" "00025553" "30" "827" "0" "844" "0" "c.827_844del" "r.(?)" "p.(Gly276_Glu281del)" "" "0000886700" "00025553" "30" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Arg406Trp)" "" "0000886701" "00025553" "30" "1780" "0" "1780" "0" "c.1780C>T" "r.(?)" "p.(Pro594Ser)" "" "0000886702" "00025553" "50" "3367" "0" "3367" "0" "c.3367A>G" "r.(?)" "p.(Asn1123Asp)" "" "0000886703" "00025553" "90" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Gln1312*)" "" "0000912266" "00025553" "30" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ala433Val)" "" "0000912267" "00025553" "50" "4328" "0" "4328" "0" "c.4328A>C" "r.(?)" "p.(Lys1443Thr)" "" "0000921059" "00025553" "90" "4221" "0" "4221" "0" "c.4221dup" "r.(?)" "p.(Leu1408Serfs*22)" "" "0000927618" "00025553" "90" "999" "0" "1000" "0" "c.999_1000insT" "r.(?)" "p.(Lys334*)" "8" "0000948513" "00025553" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000976666" "00025553" "30" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77His)" "" "0000976667" "00025553" "30" "870" "1" "870" "1" "c.870+1G>A" "r.spl?" "p.?" "" "0000976668" "00025553" "30" "1705" "-7" "1705" "-4" "c.1705-7_1705-4del" "r.spl?" "p.?" "" "0000976669" "00025553" "30" "3354" "0" "3354" "0" "c.3354G>A" "r.(?)" "p.(=)" "" "0000985144" "00025553" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Gln426*)" "" "0000994804" "00025553" "30" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Met)" "" "0000994805" "00025553" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000994806" "00025553" "90" "1351" "0" "1351" "0" "c.1351del" "r.(?)" "p.(Ala451Leufs*42)" "" "0000994807" "00025553" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Ala490Thr)" "" "0000994808" "00025553" "10" "2859" "4010" "2859" "4010" "c.2859+4010A>G" "r.(=)" "p.(=)" "" "0000994809" "00025553" "30" "3199" "0" "3199" "0" "c.3199C>T" "r.(?)" "p.(Pro1067Ser)" "" "0000994810" "00025553" "30" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Val1104Met)" "" "0000994811" "00025553" "30" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Pro1198Leu)" "" "0001025057" "00025553" "90" "1770" "0" "1771" "0" "c.1770_1771del" "r.(?)" "p.(Lys591Glyfs*11)" "" "0001025058" "00025553" "50" "4374" "0" "4379" "0" "c.4374_4379del" "r.(?)" "p.(Lys1459_Lys1460del)" "" "0001035031" "00025553" "50" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Arg20Trp)" "" "0001035032" "00025553" "30" "2659" "0" "2659" "0" "c.2659G>C" "r.(?)" "p.(Val887Leu)" "" "0001035033" "00025553" "30" "3295" "0" "3295" "0" "c.3295G>C" "r.(?)" "p.(Gly1099Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 272 "{{screeningid}}" "{{variantid}}" "0000050400" "0000079380" "0000284087" "0000639829" "0000284088" "0000639830" "0000284089" "0000639831" "0000284090" "0000639832" "0000284091" "0000639833" "0000284092" "0000639834" "0000284093" "0000639835" "0000284094" "0000639836" "0000284095" "0000639837" "0000284096" "0000639838" "0000284097" "0000639839" "0000284098" "0000639840" "0000284099" "0000639841" "0000284100" "0000639842" "0000284101" "0000639843" "0000284102" "0000639844" "0000284103" "0000639845" "0000284104" "0000639846" "0000284105" "0000639847" "0000284106" "0000639848" "0000284107" "0000639849" "0000284108" "0000639850" "0000284109" "0000639851" "0000284110" "0000639852" "0000284111" "0000639853" "0000284112" "0000639854" "0000284113" "0000639855" "0000284114" "0000639856" "0000284115" "0000639857" "0000284116" "0000639858" "0000284117" "0000639859" "0000284118" "0000639860" "0000284119" "0000639861" "0000284120" "0000639862" "0000284121" "0000639863" "0000284122" "0000639864" "0000284123" "0000639865" "0000284124" "0000639866" "0000284125" "0000639867" "0000284126" "0000639868" "0000284127" "0000639869" "0000284128" "0000639870" "0000284129" "0000639871" "0000284130" "0000639872" "0000284131" "0000639873" "0000284132" "0000639874" "0000284133" "0000639875" "0000284134" "0000639876" "0000284135" "0000639877" "0000284136" "0000639878" "0000284137" "0000639879" "0000284138" "0000639880" "0000284139" "0000639881" "0000284140" "0000639882" "0000284141" "0000639883" "0000284142" "0000639884" "0000284143" "0000639885" "0000284144" "0000639886" "0000284145" "0000639887" "0000284146" "0000639888" "0000284147" "0000639889" "0000284148" "0000639890" "0000284149" "0000639891" "0000284150" "0000639892" "0000284151" "0000639893" "0000284152" "0000639894" "0000284153" "0000639895" "0000284154" "0000639896" "0000284155" "0000639897" "0000284156" "0000639898" "0000284157" "0000639899" "0000284158" "0000639900" "0000284159" "0000639901" "0000284160" "0000639902" "0000284161" "0000639903" "0000284162" "0000639904" "0000284163" "0000639905" "0000284164" "0000639906" "0000284165" "0000639907" "0000284166" "0000639908" "0000284167" "0000639909" "0000284168" "0000639910" "0000284169" "0000639911" "0000284170" "0000639912" "0000284171" "0000639913" "0000284172" "0000639914" "0000284173" "0000639915" "0000284174" "0000639916" "0000284175" "0000639917" "0000284176" "0000639918" "0000284177" "0000639919" "0000284178" "0000639920" "0000284179" "0000639921" "0000284180" "0000639922" "0000284181" "0000639923" "0000284182" "0000639924" "0000284183" "0000639925" "0000284184" "0000639926" "0000284185" "0000639927" "0000284186" "0000639928" "0000284187" "0000639929" "0000284188" "0000639930" "0000284189" "0000639931" "0000284190" "0000639932" "0000284191" "0000639933" "0000284192" "0000639934" "0000284193" "0000639935" "0000284194" "0000639936" "0000284195" "0000639937" "0000284196" "0000639938" "0000284197" "0000639939" "0000284198" "0000639940" "0000284199" "0000639941" "0000284200" "0000639942" "0000284201" "0000639943" "0000284202" "0000639944" "0000284203" "0000639945" "0000284204" "0000639946" "0000284205" "0000639947" "0000284206" "0000639948" "0000284207" "0000639949" "0000284208" "0000639950" "0000284209" "0000639951" "0000284210" "0000639952" "0000284211" "0000639953" "0000284212" "0000639954" "0000284213" "0000639955" "0000284214" "0000639956" "0000284215" "0000639957" "0000284216" "0000639958" "0000284217" "0000639959" "0000284218" "0000639960" "0000284219" "0000639961" "0000284220" "0000639962" "0000284221" "0000639963" "0000284222" "0000639964" "0000284223" "0000639965" "0000284224" "0000639966" "0000284225" "0000639967" "0000284226" "0000639968" "0000284227" "0000639969" "0000284228" "0000639970" "0000284229" "0000639971" "0000284230" "0000639972" "0000284231" "0000639973" "0000284232" "0000639974" "0000284233" "0000639975" "0000284234" "0000639976" "0000284235" "0000639977" "0000284236" "0000639978" "0000284237" "0000639979" "0000284238" "0000639980" "0000284239" "0000639981" "0000284240" "0000639982" "0000284241" "0000639983" "0000284242" "0000639984" "0000284243" "0000639985" "0000284244" "0000639986" "0000284245" "0000639987" "0000284246" "0000639988" "0000284247" "0000639989" "0000284248" "0000639990" "0000284249" "0000639991" "0000284250" "0000639992" "0000284251" "0000639993" "0000284252" "0000639994" "0000284253" "0000639995" "0000284254" "0000639996" "0000284255" "0000639997" "0000284256" "0000639998" "0000284257" "0000639999" "0000284258" "0000640000" "0000284259" "0000640001" "0000284260" "0000640002" "0000284261" "0000640003" "0000284262" "0000640004" "0000284263" "0000640005" "0000284264" "0000640006" "0000284265" "0000640007" "0000284266" "0000640008" "0000284267" "0000640009" "0000284268" "0000640010" "0000284269" "0000640011" "0000284270" "0000640012" "0000284271" "0000640013" "0000284272" "0000640014" "0000284273" "0000640015" "0000284274" "0000640016" "0000284275" "0000640017" "0000284276" "0000640018" "0000284277" "0000640019" "0000284278" "0000640020" "0000284279" "0000640021" "0000284280" "0000640022" "0000284281" "0000640023" "0000284282" "0000640024" "0000284283" "0000640025" "0000284284" "0000640026" "0000284285" "0000640027" "0000284286" "0000640028" "0000284287" "0000640029" "0000284288" "0000640030" "0000284289" "0000640031" "0000284290" "0000640032" "0000284291" "0000640033" "0000284292" "0000640034" "0000284293" "0000640035" "0000284294" "0000640036" "0000284295" "0000640037" "0000284296" "0000640038" "0000284297" "0000640039" "0000284298" "0000640040" "0000284299" "0000640041" "0000284300" "0000640042" "0000284301" "0000640043" "0000284302" "0000640044" "0000284303" "0000640045" "0000284304" "0000640046" "0000284305" "0000640047" "0000284306" "0000640048" "0000284307" "0000640049" "0000284308" "0000640050" "0000284309" "0000640051" "0000284310" "0000640052" "0000284311" "0000640053" "0000284312" "0000640054" "0000284313" "0000640055" "0000284314" "0000640056" "0000284315" "0000640057" "0000284316" "0000640058" "0000284317" "0000640059" "0000284318" "0000640060" "0000284319" "0000640061" "0000284320" "0000640062" "0000284321" "0000640063" "0000284322" "0000640064" "0000284323" "0000640065" "0000284324" "0000640066" "0000284325" "0000640067" "0000284326" "0000640068" "0000284327" "0000640069" "0000284328" "0000640070" "0000284329" "0000640071" "0000284330" "0000640072" "0000284331" "0000640073" "0000284332" "0000640074" "0000284333" "0000640075" "0000284334" "0000640076" "0000284335" "0000640077" "0000284336" "0000640078" "0000294965" "0000651654" "0000296680" "0000653374" "0000296842" "0000653563" "0000302329" "0000665547" "0000306621" "0000670270" "0000306622" "0000670271" "0000306623" "0000670272" "0000306624" "0000670273" "0000306625" "0000670274" "0000306627" "0000670277" "0000332792" "0000730074" "0000407770" "0000844555" "0000407772" "0000844558" "0000407774" "0000844559" "0000409722" "0000846934" "0000409729" "0000846951" "0000409812" "0000847027" "0000410253" "0000847529" "0000435121" "0000921059" "0000436585" "0000927618" "0000451308" "0000985144"