### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS9) # 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}}" "BBS9" "Bardet-Biedl syndrome 9" "7" "p14" "unknown" "NC_000007.13" "UD_130218515981" "" "https://www.LOVD.nl/BBS9" "GeneCards \r\nGeneTests " "1" "30000" "27241" "607968" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BBS9_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-03-28 00:00:00" "00006" "2024-01-11 09:44:59" "00000" "2025-11-01 13:22:20" ## 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}}" "00024049" "BBS9" "transcript variant 2" "001" "NM_198428.2" "" "NP_940820.1" "" "" "" "-513" "3506" "2664" "33169152" "33645680" "00008" "2015-08-17 15:04:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "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" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "04035" "SRTD10" "dysplasia, thoracic, short-rib, type 10 with/without polydactyly (SRTD-10)" "AR" "615630" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "04380" "BBS9" "Bardet-Biedl syndrome, type 9" "AR" "615986" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-01-11 09:45:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "BBS9" "00139" "BBS9" "04212" "BBS9" "04380" ## Individuals ## Do not remove or alter this header ## ## Count = 148 "{{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}}" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00050553" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00059924" "" "" "" "1" "" "00008" "" "Previous tests done: BBS-A" "" "" "" "" "0" "" "" "" "" "00063833" "" "" "" "1" "" "01424" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00095115" "" "" "" "1" "" "01586" "" "" "" "?" "" "" "0" "Yes" "" "" "" "00152527" "" "" "" "1" "" "02380" "" "" "" "" "" "" "0" "" "" "" "" "00152528" "" "" "" "1" "" "02380" "" "" "" "" "" "" "0" "" "" "" "" "00155390" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00240424" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00276327" "" "" "" "1" "" "03470" "" "" "F" "yes" "Turkey" "04y" "0" "" "" "" "" "00294433" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294434" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294435" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294436" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294437" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294438" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308675" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00308971" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00325445" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2831" "00332542" "" "" "" "1" "" "00006" "{PMID:Comander 2017:28981474}" "proband" "F" "" "United States" "" "0" "" "" "" "Pat29" "00333361" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat1" "00334088" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "617" "00358720" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358808" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR400-03" "00358955" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29870" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00362926" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "LCA70" "00363437" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat13" "00363744" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG2231" "00378069" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_SH_0052" "00380358" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00381170" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00382495" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "357" "00382496" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "358" "00382603" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "466" "00383074" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383083" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383118" "" "" "" "1" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "F" "" "" "" "0" "" "" "" "" "00383119" "" "" "" "1" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "M" "" "" "" "0" "" "" "" "" "00383120" "" "" "" "1" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "M" "" "" "" "0" "" "" "" "" "00383121" "" "" "" "2" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "" "" "" "" "0" "" "" "" "" "00383122" "" "" "" "2" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "" "" "" "" "0" "" "" "" "" "00383123" "" "" "" "1" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "F" "" "" "" "0" "" "" "" "" "00383124" "" "" "" "2" "" "00000" "{PMID:Nishimura-2005:16380913}" "" "M" "" "" "" "0" "" "" "" "" "00383142" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383148" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383206" "" "" "" "1" "" "00000" "{PMID:Leitch-2008:18327255}" "" "M" "" "" "" "0" "" "" "" "" "00383245" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383246" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383247" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383248" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "Turkish" "" "00383294" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383298" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383521" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00384602" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "FA4: V.3" "00384684" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384728" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "West African" "" "00384729" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Hispanic" "" "00384730" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Hispanic" "" "00384731" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00384780" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384781" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384782" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384783" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384815" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384816" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384817" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384819" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384823" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384824" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384832" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384833" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384835" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384836" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384838" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384839" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385180" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385230" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385286" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385307" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "South African Black/European/Asian" "" "00385343" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Irish" "" "00385355" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "French" "" "00385376" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "South African Black" "" "00385384" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "French" "" "00385580" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR847(A2877)-03" "00385581" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR847(A2877)-03" "00385590" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "Turkey" "" "0" "" "" "" "PB233(A2013)-II1" "00385591" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "" "A2499" "00385602" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "United States" "" "0" "" "" "" "A3260-II1" "00385643" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "R1-04" "00385644" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "R1-05" "00385645" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "AR082-03" "00385937" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Mazani" "" "00385947" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Turk" "" "00386869" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-390" "00387131" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Hispanic" "157" "00387904" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents once removed" "" "yes" "Iran" "" "0" "" "" "Persia" "M9100015" "00388141" "" "" "" "1" "" "00000" "{PMID:Qi_2017:28624958}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00388508" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15009450" "00388792" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 40, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "76" "00388793" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 40, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "77" "00388797" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 42, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "81" "00388798" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 42, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "82" "00388899" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 70, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "183" "00391216" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "" "F" "" "Turkey" "" "0" "" "" "" "5" "00392776" "" "" "" "1" "" "00000" "{PMID:Meng 2021:33777945}" "" "M" "no" "China" "" "0" "" "" "" "F9-II:1" "00392777" "" "" "" "1" "" "00000" "{PMID:Meng 2021:33777945}" "" "M" "no" "China" "" "0" "" "" "" "F10-II:1" "00394470" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "M" "" "" "" "0" "" "" "" "" "00394472" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "F" "" "" "" "0" "" "" "" "" "00394474" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "F" "" "" "" "0" "" "" "" "" "00395025" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K26" "00395036" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K73" "00395038" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K77" "00395039" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K87" "00395042" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K131" "00395616" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3079" "00396591" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus" "?" "" "France" "" "0" "" "" "" "" "00396593" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 25 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00412536" "" "" "" "1" "" "00000" "{PMID:Khan 2016:26846096}" "" "M" "yes" "" "" "0" "" "" "Pakistani" "IV:4" "00412537" "" "" "" "1" "" "00000" "{PMID:Khan 2016:26846096}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "IV:5" "00412542" "" "" "" "1" "" "00000" "{PMID:Muzammal 2019:31294530}" "Family A" "M" "yes" "" "" "0" "" "" "Pakistani" "A_IV-4" "00412543" "" "" "" "1" "" "00000" "{PMID:Muzammal 2019:31294530}" "Family A" "M" "yes" "" "" "0" "" "" "Pakistani" "A_IV-2" "00412544" "" "" "" "1" "" "00000" "{PMID:Muzammal 2019:31294530}" "Family A" "M" "yes" "" "" "0" "" "" "Pakistani" "A_IV-5" "00412545" "" "" "" "1" "" "00000" "{PMID:Muzammal 2019:31294530}" "Family B" "M" "yes" "" "" "0" "" "" "Pakistani" "B_V-1" "00412551" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F04" "M" "yes" "" "" "0" "" "" "Pakistani" "F04_IV:2" "00412556" "" "" "" "1" "" "00000" "{PMID:Kim 2020:32037757}" "" "M" "" "" "" "0" "" "" "South Korean" "?" "00412571" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "no" "" "" "0" "" "" "Hungarian" "NPH2218" "00412572" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "A3189-21" "00412573" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "yes" "" "" "0" "" "" "Turkish" "UCL-87" "00412574" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "no" "" "" "0" "" "" "Turkish" "UCL-107" "00412575" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "no" "" "" "0" "" "" "French" "NPH2161" "00412576" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "no" "" "" "0" "" "" "Belgian" "B1" "00412577" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "no" "" "" "0" "" "" "British" "SKDP-44.3" "00412578" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "no" "" "" "0" "" "" "South American" "A3215-21" "00412579" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "no" "" "" "0" "" "" "German" "F108-21" "00412580" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "no" "" "" "0" "" "" "Singaporean and Malaysian" "SKDP-165." "00412581" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "F" "yes" "" "" "0" "" "" "Filipino" "A2052-21" "00412582" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "yes" "" "" "0" "" "" "Filipino" "A2052-22" "00412583" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "no" "" "" "0" "" "" "European American" "A3037-21" "00412584" "" "" "" "1" "" "00000" "{PMID:Halbritter 2013:24140113}" "" "M" "no" "" "" "0" "" "" "European American" "A3037-22" "00418623" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F-85, individual 51" "F" "" "" "" "0" "" "" "" "F85-51" "00418624" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 5 (proband)" "M" "" "" "" "0" "" "" "" "F1159-5" "00418625" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 1 (proband\'s father)" "M" "" "" "" "0" "" "" "" "F1159-1" "00418626" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 2 (proband\'s mother)" "F" "" "" "" "0" "" "" "" "F1159-2" "00429489" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430013" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00445375" "" "" "" "1" "" "04333" "" "" "F" "yes" "Israel" "" "" "" "" "Iraq;Jew" "R2011" "00453406" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat80" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 147 "{{individualid}}" "{{diseaseid}}" "00050553" "00198" "00059924" "04212" "00063833" "04212" "00095115" "04380" "00152527" "04327" "00152528" "04327" "00155390" "04212" "00240424" "00381" "00276327" "04380" "00294433" "00198" "00294434" "00198" "00294435" "00198" "00294436" "00198" "00294437" "00198" "00294438" "00198" "00308675" "04214" "00308971" "04214" "00325445" "04214" "00332542" "04214" "00333361" "04214" "00334088" "04214" "00358720" "04214" "00358808" "04212" "00358955" "04214" "00358963" "04214" "00362926" "04214" "00363437" "04214" "00363744" "04214" "00378069" "04212" "00380358" "04214" "00381170" "04214" "00382495" "04214" "00382496" "04214" "00382603" "04214" "00383074" "04214" "00383083" "04214" "00383118" "04214" "00383119" "04214" "00383120" "04214" "00383121" "04214" "00383122" "04214" "00383123" "04214" "00383124" "04214" "00383142" "04214" "00383148" "04214" "00383206" "04214" "00383245" "04214" "00383246" "04214" "00383247" "04214" "00383248" "04214" "00383294" "04214" "00383298" "04214" "00383521" "04214" "00384602" "04214" "00384684" "04214" "00384728" "04214" "00384729" "04214" "00384730" "04214" "00384731" "04214" "00384780" "04214" "00384781" "04214" "00384782" "04214" "00384783" "04214" "00384815" "04214" "00384816" "04214" "00384817" "04214" "00384819" "04214" "00384823" "04214" "00384824" "04214" "00384832" "04214" "00384833" "04214" "00384835" "04214" "00384836" "04214" "00384838" "04214" "00384839" "04214" "00385180" "04214" "00385230" "04214" "00385286" "04214" "00385307" "04214" "00385343" "04214" "00385355" "04214" "00385376" "04214" "00385384" "04214" "00385580" "04214" "00385581" "04214" "00385590" "04214" "00385591" "04214" "00385602" "04214" "00385643" "04214" "00385644" "04214" "00385645" "04214" "00385937" "04214" "00385947" "04214" "00386869" "04214" "00387131" "04214" "00387904" "00139" "00388141" "04214" "00388508" "04214" "00388792" "04214" "00388793" "04214" "00388797" "04214" "00388798" "04214" "00388899" "04214" "00391216" "04214" "00392776" "04214" "00392777" "04214" "00394470" "04214" "00394472" "04214" "00394474" "04214" "00395025" "04214" "00395036" "04214" "00395038" "04214" "00395039" "04214" "00395042" "04214" "00395616" "04214" "00396591" "04214" "00396593" "04214" "00412536" "04214" "00412537" "04214" "00412542" "04214" "00412543" "04214" "00412544" "04214" "00412545" "04214" "00412551" "04214" "00412556" "04214" "00412571" "04035" "00412572" "04035" "00412573" "04035" "00412574" "04035" "00412575" "04035" "00412576" "04035" "00412577" "04035" "00412578" "04035" "00412579" "04035" "00412580" "04035" "00412581" "04035" "00412582" "04035" "00412583" "04035" "00412584" "04035" "00418623" "00259" "00418624" "00259" "00418625" "00259" "00418626" "00259" "00429489" "00112" "00430013" "04214" "00445375" "00112" "00453406" "04222" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00259, 00381, 04035, 04212, 04214, 04222, 04327, 04380 ## Count = 139 "{{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}}" "0000037165" "00198" "00050553" "00006" "Isolated (sporadic)" "" "global developmental delay, generalized seizures, abnormal facial shape, autism, long tapered fingers, narrow mouth, short upturned nose, upslanted palpebral fissure, abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000046416" "04212" "00059924" "00008" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050423" "04212" "00063833" "01424" "Familial, autosomal recessive" "15y" "CRD/RP, polydactyly, obesity, intellectual disability, hypogonadism. Left kidney: focal caliectasis in upper and interpolar region. Elevated liver enzymes, hypodontia, speech disability, gynaecomastia." "" "" "" "" "" "" "" "" "" "" "" "0000073510" "04380" "00095115" "01586" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000125632" "04327" "00152528" "02380" "Unknown" "" "unicoronal synostosis, right (HP:0011315)" "" "" "" "" "" "" "" "" "" "craniosynostosis affecting right coronal sutures" "" "0000125634" "04327" "00152527" "02380" "Unknown" "" "sagittal craniosynostosis (HP:0004442)" "" "" "" "" "" "" "" "" "" "sagittal craniosynostosis" "" "0000127890" "04212" "00155390" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000210918" "04380" "00276327" "03470" "Familial, autosomal recessive" "04y" "Obesity\r\nRod cone dystrophy \r\nPolydactyly\r\nRenal abnormalities\r\nGenital abnormalities\r\nBehavioral problems\r\nFacial dysmorphism\r\nCardiac abnormalities" "" "" "" "" "" "" "" "" "BBS9" "" "" "0000234103" "04214" "00308675" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "syndromic RP associated with BBS" "" "0000234291" "04214" "00308971" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000243932" "04214" "00325445" "00006" "Familial, autosomal recessive" "" "syndromic retinal systrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000250730" "04214" "00332542" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "pericentral retinitis pigmentosa" "" "0000251548" "04214" "00333361" "00000" "Unknown" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252273" "04214" "00334088" "00000" "Familial, autosomal recessive" "56y" "clinical category IB2" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome v retinitis pigmentosa" "" "0000253935" "04214" "00358720" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254023" "04212" "00358808" "00000" "Unknown" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254253" "04214" "00358955" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258292" "04214" "00362926" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis/Bardet Biedl syndrome" "" "0000258798" "04214" "00363437" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000259094" "04214" "00363744" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000273211" "04212" "00378069" "03508" "Familial, autosomal recessive" "" "HP:0000662\tHP:0000613\tHP:0001129\tHP:0000639\tHP:0001483, HP:0000551, HP:0001288, HP:0000007, HP:0032122, HP:0001162, HP:0001513" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000274209" "04214" "00380358" "00000" "Familial, autosomal recessive" "7y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000275021" "04214" "00381170" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276344" "04214" "00382495" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276345" "04214" "00382496" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinal vascular dystrophies" "" "0000276452" "04214" "00382603" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276864" "04214" "00383074" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276873" "04214" "00383083" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276908" "04214" "00383118" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276909" "04214" "00383119" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276910" "04214" "00383120" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276911" "04214" "00383121" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276912" "04214" "00383122" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276913" "04214" "00383123" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276914" "04214" "00383124" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276932" "04214" "00383142" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hypogonadism, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276938" "04214" "00383148" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276993" "04214" "00383206" "00000" "Familial, autosomal recessive" "5y" "retinitis pigmentosa, severe obesity, polydactyly, mental retardation, renal disease, developmental delayDA," "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277032" "04214" "00383245" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277033" "04214" "00383246" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277034" "04214" "00383247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277035" "04214" "00383248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277079" "04214" "00383294" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277083" "04214" "00383298" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277306" "04214" "00383521" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278392" "04214" "00384602" "00000" "Familial, autosomal recessive" "24y" "Visual acuity: 20/30–20/2" "6y" "12y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278467" "04214" "00384684" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278511" "04214" "00384728" "00000" "Familial, autosomal recessive" "4y1m" "polydactyly of two limbs, congenital heart disease, genitourinary sinus anomalies and distal vaginal stenosis with secondary hydrocolpos and hydronephrosis at birth, digit anomaly, combined BBS/MKKS phenotype" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278512" "04214" "00384729" "00000" "Familial, autosomal recessive" "18y6m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278513" "04214" "00384730" "00000" "Familial, autosomal recessive" "24y" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278514" "04214" "00384731" "00000" "Familial, autosomal recessive" "6y11m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278563" "04214" "00384780" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278564" "04214" "00384781" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278565" "04214" "00384782" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278566" "04214" "00384783" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278598" "04214" "00384815" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278599" "04214" "00384816" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly," "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278600" "04214" "00384817" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278602" "04214" "00384819" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278606" "04214" "00384823" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278607" "04214" "00384824" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278615" "04214" "00384832" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278616" "04214" "00384833" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278618" "04214" "00384835" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278619" "04214" "00384836" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278621" "04214" "00384838" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278622" "04214" "00384839" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, deafness," "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278976" "04214" "00385180" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279026" "04214" "00385230" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279082" "04214" "00385286" "00000" "Familial, autosomal recessive" "4y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279103" "04214" "00385307" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279139" "04214" "00385343" "00000" "Familial, autosomal recessive" "13y7m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHyperphagia, Vocal cord web, Sleep apnea" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279151" "04214" "00385355" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279172" "04214" "00385376" "00000" "Familial, autosomal recessive" "4y1m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHydrometrocolpos" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279180" "04214" "00385384" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279375" "04214" "00385580" "00000" "Familial, autosomal recessive" "" "postaxial polydactyly, obesity, renal anomalies, AST,DD,MY,SD" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279376" "04214" "00385581" "00000" "Familial, autosomal recessive" "" "postaxial polydactyly, obesity, renal anomalies, AST,DD,MY,SD" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279385" "04214" "00385590" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, MR" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279386" "04214" "00385591" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, postaxial polydactyly, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279397" "04214" "00385602" "00000" "Familial, autosomal recessive" "" "postaxial polydactyly, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279438" "04214" "00385643" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279439" "04214" "00385644" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279440" "04214" "00385645" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279738" "04214" "00385937" "00000" "Familial, autosomal recessive" "" "obesity, rp, myopia, polydactyly hand, polydactyly feet, hypogonadisma, Nystagmus, congenital-cardiac-anomaly, Hirschprung-syndrome, brachydactyly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279748" "04214" "00385947" "00000" "Familial, autosomal recessive" "" "obesity, cataract, night blindness, strabismus, Moderate learning disability, polydactyly hand, polydactyly feet, speech disorder, Behavioral-problem, developmental-delay, dental-anomaly, Hirschprung-syndrome" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000280669" "04214" "00386869" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280909" "04214" "00387131" "00000" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000281472" "00139" "00387904" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281735" "04214" "00388141" "00000" "Familial, autosomal recessive" "10y" "polydipsia, polyuria, kidney malformations (renal cysts), renal dysfunction, retinal degeneration, cognitive impairment, polydactyly, enamel hypoplasia, short stature and myocardial damage." "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282060" "04214" "00388508" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282333" "04214" "00388792" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282334" "04214" "00388793" "00000" "Familial, autosomal recessive" "45y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282338" "04214" "00388797" "00000" "Familial, autosomal recessive" "24y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282339" "04214" "00388798" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "23y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282440" "04214" "00388899" "00000" "Familial, autosomal recessive" "39y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000284658" "04214" "00391216" "00000" "Familial, autosomal recessive" "4y" "BMI: 30.4, rod-cone dystrophy, polydactyly, intellectual disability: unknown, renal abnormalities, genital abnormalities, no developmental delay, Hypothyroid and bladder cyst BBS9 c.965G > A" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000286022" "04214" "00392776" "00000" "Familial, autosomal recessive" "27y" "BMI: 26.12, polydactyly, no intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, cataract, best corrected visual acuity right/left eye: hand movement/hand movement, fundus: optic disk pallor, osteocyte cell-like pigment deposition,, pattern visual evoked potential: –, flash visual evoked potential: unstable and severely reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordab" "6y" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000286023" "04214" "00392777" "00000" "Familial, autosomal recessive" "18y" "BMI: 30.42, polydactyly, no intellectual disability, no gonadal abnormalities, renal cyst, no hearing loss, no tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels slightly elevated–, best corrected visual acuity right/left eye: 0.2/0.1, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: –, flash visual evoked potential: –, full-field flash electroretinography: unrecordable, multifocal electroretinography: unreco" "0m" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000287673" "04214" "00394470" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000287675" "04214" "00394472" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000287677" "04214" "00394474" "00000" "Familial, autosomal recessive" "" "dyslipidemia" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000288225" "04214" "00395025" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288236" "04214" "00395036" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288238" "04214" "00395038" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288239" "04214" "00395039" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288242" "04214" "00395042" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288814" "04214" "00395616" "00000" "Familial, autosomal recessive" "" "astigmatism, myopia, rod-cone dystrophy, obesity, hyperinsulinemia, hyperuricemia, specific learning disability, hyposthenuria, polyuria, renal insufficiency, hepatic steatosis, postaxial hand and foot polydactyly, small hand, hypogonadism, vesicoureteral reflux" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000289752" "04214" "00396591" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, oligoamnios, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289754" "04214" "00396593" "00000" "Familial, autosomal recessive" "" "Retrognathism, overgrowth, polydactyly, postaxial, lower limbs, upper limbs, syndactyly, brachydactyly brachyphalangy, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000304530" "04214" "00412536" "00000" "Familial, autosomal recessive" "20y" "anthropometric data: height: 5 feet 2 inch; weight: 75 Kg; body mass index (BMI): 30.2 (obese); major bbs phenotypes: retinal degeneration; polydactyly; obesity; developmental delay; no hypogonadism; renal abnormality; minor bbs phenotypes: speech disability; strabismus, cataract, astigmatism; brachydactyly, syndactyly; no diabetes mellitus; no ataxia or imbalance; no mild spasticity; no dental anomaly; no heart problems; no liver disorders; no hearing loss; gastro-intestinal complications: digestion problem; no dermatologic issues" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304531" "04214" "00412537" "00000" "Familial, autosomal recessive" "18y" "anthropometric data: height: 4 feet 10 inch; weight: 65 Kg; body mass index (BMI): 30.9 (obese); major bbs phenotypes: retinal degeneration; polydactyly; obesity; developmental delay; no hypogonadism; renal abnormality; minor bbs phenotypes: speech disability; no strabismus, cataract, astigmatism; brachydactyly, syndactyly; no diabetes mellitus; no ataxia or imbalance; no mild spasticity; no dental anomaly; no heart problems; liver disorders - no data; hearing loss; gastro-intestinal complications: digestion problem; no dermatologic issues; menstruation: irregular" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304537" "04214" "00412542" "00000" "Familial, autosomal recessive" "11y" "occipitofrontal circumference: 51 cm; no microcephalic features ; height: 4 feet; body mass index: 30.5 (obese); no involvement of environmental factors; behavioral expression: hyperactive; communication ability: normal; growth condition: normal; no epileptic shock; wide gait; no attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): normal; lipid profile: high (abnormal triglyceride); normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of both feet and hands; syndactyly: no; no dental anomalies; retinitis pigmentosa: yes; eye sight: weak; no nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status" "0m" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304538" "04214" "00412543" "00000" "Familial, autosomal recessive" "13y" "occipitofrontal circumference: 53 cm; no microcephalic features ; height: 5 feet 1 inch; body mass index: 27 (obese); no involvement of environmental factors; behavioral expression: hyperactive; communication ability: weak; growth condition: normal; no epileptic shock; wide gait; no attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): normal; lipid profile: high (abnormal triglyceride); normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of feet, syn-hexa-dactyly of both hands; syndactyly: yes; no dental anomalies; retinitis pigmentosa: yes; eye sight: weak; no nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; norma" "00y00m" "" "" "anna_tracewska" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304539" "04214" "00412544" "00000" "Familial, autosomal recessive" "8y" "occipitofrontal circumference: 51 cm; no microcephalic features ; height: 3 feet 10 inches; body mass index: 26.9 (obese); no involvement of environmental factors; behavioral expression: hyperactive; communication ability: normal; growth condition: normal; no epileptic shock; wide gait; no attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): normal; lipid profile: normal; normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of both feet and hands; syndactyly: no; no dental anomalies; retinitis pigmentosa: no; eye sight: normal; no nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status:" "0m" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304540" "04214" "00412545" "00000" "Familial, autosomal recessive" "24y" "occipitofrontal circumference: 52 cm; no microcephalic features ; height: 5 feet; body mass index: 27.9 (over weight); no involvement of environmental factors; behavioral expression: lethargic; communication ability: nil; growth condition: weak; no epileptic shock; wide gait; attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): boarder-line; lipid profile: normal; normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of feet, hexa-dactyly of right hand, syn-hepta- dactyly of left hand; syndactyly: yes; no dental anomalies; retinitis pigmentosa: yes; eye sight: weak; nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status" "00y00m" "" "" "anna_tracewska" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304546" "04214" "00412551" "00000" "Familial, autosomal recessive" "15y" "body mass index: 33.3; retinal degeneration; polydactyly; obesity: Yes; intellectual disability; hypogonadism; renal anomalies: infiltration, abnormally high cholesterol level, elevated liver enzymes" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304551" "04214" "00412556" "00000" "Familial, autosomal recessive" "14y" "initial examination: best corrected visual acuity right, left eye: 16 / 20, 6 / 20; slit lamp examination: no abnormality in the anterior segment; fundoscopy: macular retinal pigment epithelium atrophy and diffuse mid-peripheral depigmentation; spectral-domain optical coherence tomography: generalized thinning of the neural retina and markedly attenuated photoreceptor layers; Goldmann perimetry: central island could only be measured within 5deg center of the visual field; fundus autofluorescence: concentric regions of hyper- and hypo-autofluorescence in the macula, with a surrounding zone of hyper-autofluorescence, giving a complex bull’s-eye-like pattern; electroretinography: non-recordable; dysmorphic features: obesity, genital anomalies, diabetes mellitus, brachydactyly; surgical treatment (gastric bypass) was performed for severe obesity (body mass index, 44.94; last visit: visual acuity no light perception with a posterior subcapsular cataract and diffuse retinal degeneration in both ey" "10y" "" "night blindness and decreased visual acuity and visual fields" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304565" "04035" "00412571" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, short long bone; renal disease (end-stage): nephronophthisis (6y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability, obesity" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy, Joubert syndrome" "" "0000304566" "04035" "00412572" "00000" "Familial, autosomal recessive" "" "skeletal features: short stature; renal disease (end-stage): nephronophthisis (9y); other clinical features:retinal degeneration, intellectual disability, died at 12 years" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "Mainzer-Saldino syndrome" "" "0000304567" "04035" "00412573" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly (feet); renal disease (end-stage): none; other clinical features:liver fibrosis, died at 18 months" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304568" "04035" "00412574" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum; renal disease (end-stage): none; other clinical features:liver fibrosis, died at 3 months" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304569" "04035" "00412575" "00000" "Familial, autosomal recessive" "" "skeletal features: brachydactyly; renal disease (end-stage): nephronophthisis (34y); other clinical features:retinal degeneration, cholestasis" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "Mainzer-Saldino syndrome" "" "0000304570" "04035" "00412576" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, PSCE, brachydactyly, polydactyly; renal disease (end-stage): none; other clinical features:retinal degeneration, intellectual disability" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304571" "04035" "00412577" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, short stature, brachydactyly; renal disease (end-stage): mild structural abnormalities; other clinical features:retinal degeneration, cholestasis, ocular motor apraxia, intellectual disability, obesity" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304572" "04035" "00412578" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, genu valgum; renal disease (end-stage): nephronophthisis (12y), renal transplantation (13y); other clinical features:intellectual disability" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304573" "04035" "00412579" "00000" "Familial, autosomal recessive" "" "skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (11y); other clinical features:retinal degeneration, liver fibrosis, impaired glucose tolerance, obesity" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "Mainzer-Saldino syndrome" "" "0000304574" "04035" "00412580" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly, short long bone; renal disease (end-stage): early cystic dysplasia; other clinical features:liver fibrosis, ventriculoseptal defect, hydrocephalus, induced abortion" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy" "" "0000304575" "04035" "00412581" "00000" "Familial, autosomal recessive" "" "skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (2y), renal transplantation (4y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Joubert syndrome" "" "0000304576" "04035" "00412582" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Joubert syndrome" "" "0000304577" "04035" "00412583" "00000" "Familial, autosomal recessive" "" "skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (20y); other clinical features:retinal degeneration, liver fibrosis, obesity" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "Mainzer-Saldino syndrome" "" "0000304578" "04035" "00412584" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)" "Mainzer-Saldino syndrome" "" "0000309959" "00259" "00418623" "00000" "Unknown" "56y" "body mass index: 40.1 (obese)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309960" "00259" "00418624" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309961" "00259" "00418625" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309962" "00259" "00418626" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000320361" "00112" "00429489" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320885" "04214" "00430013" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342069" "04222" "00453406" "00006" "Familial, autosomal recessive" "0y" "bilateral polycystic kidneys in ultrasound, polydactyly" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 148 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000076" "00000076" "1" "00004" "" "2012-05-11 13:19:02" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050498" "00050553" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059911" "00059924" "1" "00008" "00008" "2013-10-01 10:53:58" "" "" "SEQ" "DNA" "" "" "0000063964" "00063833" "1" "01424" "01424" "2016-04-18 19:36:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095513" "00095115" "1" "01586" "01586" "2017-01-06 13:05:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000153384" "00152527" "1" "02380" "02380" "2018-02-02 17:01:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000153385" "00152528" "1" "02380" "02380" "2018-02-02 17:05:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000156255" "00155390" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000241534" "00240424" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA;RNA" "blood;Saliva" "" "0000277474" "00276327" "1" "03470" "03470" "2020-01-31 08:54:46" "" "" "SEQ-NG-I" "DNA" "Blood" "WES and Sanger" "0000295601" "00294433" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295602" "00294434" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295603" "00294435" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295604" "00294436" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295605" "00294437" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295606" "00294438" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309820" "00308675" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310116" "00308971" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326656" "00325445" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000333766" "00332542" "1" "00000" "00006" "2021-02-20 09:48:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000334586" "00333361" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335314" "00334088" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000359950" "00358720" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360038" "00358808" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360192" "00358955" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000364154" "00362926" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364665" "00363437" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364972" "00363744" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000379270" "00378069" "1" "03508" "03508" "2021-08-04 09:59:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000381572" "00380358" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382385" "00381170" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000383709" "00382495" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383710" "00382496" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383817" "00382603" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384298" "00383074" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384307" "00383083" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384342" "00383118" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384343" "00383119" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384344" "00383120" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384345" "00383121" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384346" "00383122" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384347" "00383123" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384348" "00383124" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP" "DNA" "blood" "" "0000384366" "00383142" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384372" "00383148" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384430" "00383206" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384469" "00383245" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384470" "00383246" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384471" "00383247" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000384472" "00383248" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384518" "00383294" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384522" "00383298" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384746" "00383521" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000385829" "00384602" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "198 genes panel, see paper" "0000385910" "00384684" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385954" "00384728" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385955" "00384729" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385956" "00384730" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385957" "00384731" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000386006" "00384780" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386007" "00384781" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386008" "00384782" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386009" "00384783" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386041" "00384815" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386042" "00384816" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386043" "00384817" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386045" "00384819" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386049" "00384823" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386050" "00384824" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386058" "00384832" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386059" "00384833" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386061" "00384835" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386062" "00384836" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386064" "00384838" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386065" "00384839" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386409" "00385180" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386459" "00385230" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386515" "00385286" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386536" "00385307" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386572" "00385343" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386584" "00385355" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386605" "00385376" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386613" "00385384" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386809" "00385580" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386810" "00385581" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386819" "00385590" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386820" "00385591" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386831" "00385602" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386872" "00385643" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386873" "00385644" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386874" "00385645" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000387165" "00385937" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387175" "00385947" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000388097" "00386869" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388357" "00387131" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389135" "00387904" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389380" "00388141" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000389749" "00388508" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000390035" "00388792" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390036" "00388793" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390040" "00388797" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390041" "00388798" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390142" "00388899" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000392458" "00391216" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000394023" "00392776" "1" "00000" "03840" "2021-11-24 15:01:28" "" "" "SEQ-NG-I" "DNA" "blood" "131 known inherited retinal disease genes" "0000394024" "00392777" "1" "00000" "03840" "2021-11-24 15:01:28" "" "" "SEQ-NG-I" "DNA" "blood" "131 known inherited retinal disease genes" "0000395717" "00394470" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000395719" "00394472" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000395721" "00394474" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000396271" "00395025" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396282" "00395036" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396284" "00395038" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396285" "00395039" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396288" "00395042" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396854" "00395616" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397834" "00396591" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397836" "00396593" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000413805" "00412536" "1" "00000" "03840" "2022-06-30 12:01:37" "" "" "arraySNP;STR;SEQ" "DNA" "blood" "" "0000413806" "00412537" "1" "00000" "03840" "2022-06-30 12:01:37" "" "" "arraySNP;STR;SEQ" "DNA" "blood" "" "0000413812" "00412542" "1" "00000" "03840" "2022-06-30 13:40:52" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000413813" "00412543" "1" "00000" "03840" "2022-06-30 13:40:52" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000413814" "00412544" "1" "00000" "03840" "2022-06-30 13:40:52" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000413815" "00412545" "1" "00000" "03840" "2022-06-30 13:40:52" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000413821" "00412551" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000413826" "00412556" "1" "00000" "03840" "2022-06-30 14:10:34" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000413841" "00412571" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413842" "00412572" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413843" "00412573" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413844" "00412574" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413845" "00412575" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413846" "00412576" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413847" "00412577" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413848" "00412578" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413849" "00412579" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413850" "00412580" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413851" "00412581" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413852" "00412582" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413853" "00412583" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000413854" "00412584" "1" "00000" "03840" "2022-06-30 20:55:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted or exome sequencing" "0000419918" "00418623" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419919" "00418624" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419920" "00418625" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419921" "00418626" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000430902" "00429489" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431426" "00430013" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000446946" "00445375" "1" "04333" "04333" "2024-01-11 08:44:13" "" "" "arraySEQ" "DNA" "" "" "0000455017" "00453406" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 155 "{{screeningid}}" "{{geneid}}" "0000000076" "ATP7B" "0000000076" "BCKDHA" "0000000076" "FKRP" "0000000076" "GAA" "0000000076" "GLB1" "0000000076" "HSD17B4" "0000000076" "IGHMBP2" "0000000076" "MEFV" "0000000076" "NHLRC1" "0000000076" "NPHS1" "0000000076" "PMM2" "0000000076" "POMGNT1" "0000000076" "PPT1" "0000000076" "SERPINA1" "0000000076" "SLC26A2" "0000050498" "BBS9" "0000059911" "BBS9" "0000063964" "BBS9" "0000153384" "BBS9" "0000153385" "BBS9" "0000156255" "BBS9" "0000241534" "BBS9" "0000277474" "BBS9" "0000309820" "BBS9" "0000310116" "BBS9" "0000326656" "BBS9" "0000333766" "BBS9" "0000335314" "BBS9" "0000359950" "BBS9" "0000360038" "ALMS1" "0000360038" "BBS4" "0000360038" "BBS9" "0000364154" "BBS9" "0000364665" "BBS9" "0000364972" "BBS9" "0000381572" "BBS9" "0000382385" "BBS9" "0000383709" "BBS9" "0000383710" "BBS9" "0000383817" "BBS9" "0000384298" "BBS1" "0000384307" "BBS4" "0000384342" "BBS9" "0000384343" "BBS9" "0000384344" "BBS9" "0000384345" "BBS9" "0000384346" "BBS9" "0000384347" "BBS9" "0000384348" "BBS9" "0000384366" "BBS9" "0000384372" "BBS9" "0000384430" "CEP290" "0000384430" "MKS1" "0000384430" "TMEM67" "0000384469" "BBS9" "0000384470" "BBS9" "0000384471" "BBS10" "0000384472" "BBS9" "0000384518" "BBS9" "0000384522" "BBS9" "0000384746" "BBS9" "0000385829" "BBS9" "0000385910" "BBS9" "0000385954" "BBS12" "0000385955" "BBS9" "0000385956" "BBS9" "0000385957" "BBS9" "0000386006" "BBS4" "0000386007" "BBS4" "0000386008" "BBS4" "0000386009" "BBS4" "0000386041" "BBS9" "0000386042" "BBS9" "0000386043" "BBS9" "0000386045" "BBS4" "0000386049" "MKKS" "0000386050" "MKKS" "0000386058" "BBS12" "0000386059" "BBS12" "0000386061" "BBS10" "0000386062" "BBS10" "0000386064" "BBS5" "0000386065" "BBS4" "0000386409" "BBS1" "0000386459" "BBS9" "0000386515" "TTC8" "0000386536" "BBS9" "0000386572" "BBS4" "0000386584" "BBS9" "0000386605" "BBS9" "0000386613" "BBS9" "0000386809" "BBS9" "0000386810" "BBS9" "0000386819" "BBS9" "0000386820" "BBS1" "0000386831" "BBS9" "0000386872" "BBS9" "0000386873" "BBS9" "0000386874" "BBS9" "0000387165" "BBS9" "0000387175" "BBS9" "0000388097" "CEP290" "0000388357" "BBS1" "0000389135" "BBS9" "0000389380" "MKKS" "0000389749" "BBS9" "0000389749" "RP9" "0000390035" "BBS9" "0000390036" "BBS9" "0000390040" "BBS9" "0000390041" "BBS9" "0000390142" "BBS9" "0000392458" "BBS9" "0000394023" "BBS9" "0000394024" "BBS9" "0000395717" "BBS9" "0000395719" "BBS9" "0000395721" "BBS9" "0000396271" "BBS9" "0000396282" "BBS9" "0000396284" "BBS9" "0000396285" "BBS9" "0000396288" "BBS9" "0000396854" "BBS9" "0000397834" "BBS9" "0000397836" "BBS9" "0000413805" "BBS9" "0000413806" "BBS9" "0000413812" "BBS9" "0000413813" "BBS9" "0000413814" "BBS9" "0000413815" "BBS9" "0000413821" "BBS9" "0000413826" "BBS9" "0000413841" "IFT172" "0000413842" "IFT172" "0000413843" "IFT172" "0000413844" "IFT172" "0000413845" "IFT172" "0000413846" "IFT172" "0000413847" "IFT172" "0000413848" "IFT172" "0000413849" "IFT172" "0000413850" "IFT172" "0000413851" "IFT172" "0000413852" "IFT172" "0000413853" "IFT172" "0000413854" "IFT172" "0000419918" "MKKS" "0000419919" "MKKS" "0000419920" "MKKS" "0000419921" "MKKS" "0000430902" "BBS9" "0000431426" "BBS9" "0000446946" "BBS9" ## 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 = 326 "{{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}}" "0000079478" "3" "90" "7" "33384197" "33384197" "subst" "0.00495813" "00006" "BBS9_000025" "g.33384197C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.33344585C>T" "" "pathogenic" "" "0000091167" "3" "70" "7" "33312753" "33312753" "subst" "4.06458E-6" "00008" "BBS9_000004" "g.33312753C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33273141C>T" "" "likely pathogenic" "" "0000094920" "3" "90" "7" "33407474" "33407474" "subst" "0" "01424" "BBS9_000026" "g.33407474C>T" "" "" "" "g.259126C>T" "" "Germline" "yes" "" "0" "" "" "g.33367862C>T" "" "pathogenic" "" "0000154079" "21" "70" "7" "33312682" "33312682" "subst" "0" "01586" "BBS9_000027" "g.33312682A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33273070A>G" "" "likely pathogenic" "" "0000154080" "11" "70" "7" "33313469" "33313469" "subst" "0" "01586" "BBS9_000028" "g.33313469G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33273857G>A" "" "likely pathogenic" "" "0000246650" "0" "50" "7" "33545217" "33545217" "subst" "0.000810274" "02330" "BBS9_000072" "g.33545217A>T" "" "" "" "BBS9(NM_198428.3):c.2258A>T (p.E753V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505605A>T" "" "VUS" "" "0000247831" "0" "30" "7" "33573546" "33573546" "subst" "0.00917916" "02325" "BBS9_000074" "g.33573546A>C" "" "" "" "BBS9(NM_198428.2):c.2299-20A>C, BBS9(NM_198428.3):c.2299-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33533934A>C" "" "likely benign" "" "0000249545" "0" "30" "7" "33573804" "33573804" "subst" "6.57252E-5" "02325" "BBS9_000080" "g.33573804A>G" "" "" "" "BBS9(NM_198428.3):c.2521+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33534192A>G" "" "likely benign" "" "0000250607" "0" "10" "7" "33573546" "33573546" "subst" "0.00917916" "02326" "BBS9_000074" "g.33573546A>C" "" "" "" "BBS9(NM_198428.2):c.2299-20A>C, BBS9(NM_198428.3):c.2299-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33533934A>C" "" "benign" "" "0000250877" "0" "10" "7" "33397562" "33397562" "subst" "0.000508672" "02326" "BBS9_000059" "g.33397562A>G" "" "" "" "BBS9(NM_198428.2):c.1648A>G (p.I550V), BBS9(NM_198428.3):c.1648A>G (p.I550V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357950A>G" "" "benign" "" "0000251098" "0" "10" "7" "33423337" "33423337" "subst" "0.00308137" "02326" "BBS9_000090" "g.33423337A>C" "" "" "" "BBS9(NM_198428.3):c.1849A>C (p.I617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383725A>C" "" "benign" "" "0000251395" "0" "30" "7" "33192302" "33192302" "del" "0" "02326" "BBS9_000032" "g.33192302del" "" "" "" "BBS9(NM_198428.3):c.113-11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33152690del" "" "likely benign" "" "0000252393" "0" "50" "7" "33427700" "33427700" "subst" "2.43651E-5" "02326" "BBS9_000068" "g.33427700A>G" "" "" "" "BBS9(NM_001348038.2):c.1786A>G (p.K596E), BBS9(NM_198428.3):c.2059A>G (p.K687E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33388088A>G" "" "VUS" "" "0000252959" "0" "10" "7" "33573546" "33573546" "subst" "0.00917916" "01943" "BBS9_000074" "g.33573546A>C" "" "" "" "BBS9(NM_198428.2):c.2299-20A>C, BBS9(NM_198428.3):c.2299-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33533934A>C" "" "benign" "" "0000255935" "0" "50" "7" "33545253" "33545253" "subst" "7.74606E-5" "01943" "BBS9_000073" "g.33545253A>G" "" "" "" "BBS9(NM_198428.2):c.2294A>G (p.E765G), BBS9(NM_198428.3):c.2294A>G (p.E765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505641A>G" "" "VUS" "" "0000258612" "0" "10" "7" "33376092" "33376092" "subst" "0" "02330" "BBS9_000047" "g.33376092T>A" "" "" "" "BBS9(NM_198428.3):c.1056T>A (p.G352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33336480T>A" "" "benign" "" "0000258613" "0" "50" "7" "33376148" "33376148" "subst" "0.000154717" "02330" "BBS9_000048" "g.33376148T>C" "" "" "" "BBS9(NM_198428.3):c.1112T>C (p.V371A, p.(Val371Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33336536T>C" "" "VUS" "" "0000258614" "0" "50" "7" "33397473" "33397473" "subst" "0.000118188" "02330" "BBS9_000056" "g.33397473C>T" "" "" "" "BBS9(NM_198428.3):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357861C>T" "" "VUS" "" "0000258615" "0" "10" "7" "33407375" "33407375" "subst" "0" "02330" "BBS9_000060" "g.33407375G>A" "" "" "" "BBS9(NM_198428.3):c.1694-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33367763G>A" "" "benign" "" "0000258616" "0" "10" "7" "33423258" "33423258" "subst" "0" "02330" "BBS9_000061" "g.33423258C>G" "" "" "" "BBS9(NM_198428.3):c.1790-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383646C>G" "" "benign" "" "0000258617" "0" "50" "7" "33423287" "33423287" "subst" "2.12143E-5" "02330" "BBS9_000063" "g.33423287G>T" "" "" "" "BBS9(NM_198428.3):c.1799G>T (p.R600L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383675G>T" "" "VUS" "" "0000258618" "0" "30" "7" "33427634" "33427634" "subst" "0.00092197" "02330" "BBS9_000066" "g.33427634C>T" "" "" "" "BBS9(NM_001348038.3):c.1720C>T (p.L574F), BBS9(NM_198428.2):c.1993C>T (p.L665F), BBS9(NM_198428.3):c.1993C>T (p.L665F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33388022C>T" "" "likely benign" "" "0000258619" "0" "10" "7" "33545175" "33545175" "subst" "0.000704415" "02330" "BBS9_000070" "g.33545175C>T" "" "" "" "BBS9(NM_198428.2):c.2216C>T (p.A739V), BBS9(NM_198428.3):c.2216C>T (p.A739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505563C>T" "" "benign" "" "0000258620" "0" "10" "7" "33545209" "33545209" "subst" "0" "02330" "BBS9_000071" "g.33545209T>C" "" "" "" "BBS9(NM_198428.3):c.2250T>C (p.A750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505597T>C" "" "benign" "" "0000258621" "0" "10" "7" "33573589" "33573589" "subst" "8.93358E-5" "02330" "BBS9_000076" "g.33573589C>T" "" "" "" "BBS9(NM_198428.3):c.2322C>T (p.A774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33533977C>T" "" "benign" "" "0000258622" "0" "50" "7" "33573630" "33573630" "subst" "0.000657815" "02330" "BBS9_000077" "g.33573630C>T" "" "" "" "BBS9(NM_001033604.1):c.2258C>T (p.(Ser753Phe)), BBS9(NM_198428.3):c.2363C>T (p.S788F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33534018C>T" "" "VUS" "" "0000258623" "0" "10" "7" "33217083" "33217083" "dup" "0" "02330" "BBS9_000036" "g.33217083dup" "" "" "" "BBS9(NM_198428.3):c.329-7dup, BBS9(NM_198428.3):c.329-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33177471dup" "" "benign" "" "0000258625" "0" "50" "7" "33185922" "33185922" "subst" "4.46668E-5" "02330" "BBS9_000029" "g.33185922T>G" "" "" "" "BBS9(NM_198428.3):c.58T>G (p.F20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33146310T>G" "" "VUS" "" "0000258626" "0" "10" "7" "33303905" "33303905" "subst" "0.000174433" "02330" "BBS9_000042" "g.33303905C>T" "" "" "" "BBS9(NM_198428.3):c.621C>T (p.Y207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33264293C>T" "" "benign" "" "0000258627" "0" "50" "7" "33312730" "33312730" "subst" "4.87932E-5" "02330" "BBS9_000043" "g.33312730G>C" "" "" "" "BBS9(NM_198428.3):c.809G>C (p.C270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33273118G>C" "" "VUS" "" "0000259238" "0" "10" "7" "33385852" "33385852" "subst" "0" "02325" "BBS9_000050" "g.33385852C>T" "" "" "" "BBS9(NM_198428.3):c.1329+1606C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33346240C>T" "" "benign" "" "0000259239" "0" "10" "7" "33388713" "33388713" "subst" "0.205651" "02325" "BBS9_000051" "g.33388713G>A" "" "" "" "BBS9(NM_198428.2):c.1363G>A (p.A455T), BBS9(NM_198428.3):c.1363G>A (p.A455T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33349101G>A" "" "benign" "" "0000259790" "0" "90" "7" "33423365" "33423368" "del" "0" "02325" "BBS9_000065" "g.33423365_33423368del" "" "" "" "BBS9(NM_001348038.3):c.1604_1607delAACA (p.K535Rfs*22), BBS9(NM_198428.3):c.1877_1880delAACA (p.K626Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383753_33383756del" "" "pathogenic" "" "0000261422" "0" "30" "7" "33192299" "33192299" "subst" "0.000134414" "02326" "BBS9_000031" "g.33192299T>A" "" "" "" "BBS9(NM_198428.3):c.113-14T>A, BBS9(NM_198428.3):c.113-14_113-13delTAinsAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33152687T>A" "" "likely benign" "" "0000261424" "0" "10" "7" "33192299" "33192299" "del" "0" "02326" "BBS9_000030" "g.33192299del" "" "" "" "BBS9(NM_198428.3):c.113-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33152687del" "" "benign" "" "0000261425" "0" "30" "7" "33380556" "33380556" "subst" "0.00597559" "02326" "BBS9_000002" "g.33380556G>A" "" "" "" "BBS9(NM_198428.2):c.1246G>A (p.V416M), BBS9(NM_198428.3):c.1246G>A (p.V416M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33340944G>A" "" "likely benign" "" "0000261426" "0" "10" "7" "33391173" "33391173" "subst" "0" "02326" "BBS9_000053" "g.33391173T>C" "" "" "" "BBS9(NM_198428.3):c.1537+238T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33351561T>C" "" "benign" "" "0000261427" "0" "10" "7" "33392479" "33392479" "subst" "0.00376826" "02326" "BBS9_000054" "g.33392479C>A" "" "" "" "BBS9(NM_001033604.1):c.1441C>A (p.(Pro481Thr)), BBS9(NM_198428.3):c.1546C>A (p.P516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33352867C>A" "" "benign" "" "0000261428" "0" "10" "7" "33397365" "33397365" "subst" "0" "02326" "BBS9_000055" "g.33397365G>A" "" "" "" "BBS9(NM_198428.3):c.1553-102G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357753G>A" "" "benign" "" "0000261429" "0" "10" "7" "33397476" "33397476" "subst" "0.00218001" "02326" "BBS9_000057" "g.33397476G>A" "" "" "" "BBS9(NM_198428.2):c.1562G>A (p.R521Q), BBS9(NM_198428.3):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357864G>A" "" "benign" "" "0000261430" "0" "30" "7" "33397560" "33397560" "subst" "0.00243793" "02326" "BBS9_000058" "g.33397560C>T" "" "" "" "BBS9(NM_198428.3):c.1646C>T (p.T549I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357948C>T" "" "likely benign" "" "0000261431" "0" "90" "7" "33423365" "33423368" "del" "0" "02326" "BBS9_000065" "g.33423365_33423368del" "" "" "" "BBS9(NM_001348038.3):c.1604_1607delAACA (p.K535Rfs*22), BBS9(NM_198428.3):c.1877_1880delAACA (p.K626Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383753_33383756del" "" "pathogenic" "" "0000261432" "0" "10" "7" "33545175" "33545175" "subst" "0.000704415" "02326" "BBS9_000070" "g.33545175C>T" "" "" "" "BBS9(NM_198428.2):c.2216C>T (p.A739V), BBS9(NM_198428.3):c.2216C>T (p.A739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505563C>T" "" "benign" "" "0000261433" "0" "90" "7" "33192423" "33192423" "subst" "2.43829E-5" "02326" "BBS9_000034" "g.33192423C>T" "" "" "" "BBS9(NM_198428.3):c.223C>T (p.R75*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33152811C>T" "" "pathogenic" "" "0000261434" "0" "90" "7" "33573565" "33573565" "subst" "4.06095E-6" "02326" "BBS9_000075" "g.33573565G>A" "" "" "" "BBS9(NM_001033604.1):c.2194-1G>A (p.?), BBS9(NM_198428.2):c.2299-1G>A, BBS9(NM_198428.3):c.2299-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33533953G>A" "" "pathogenic" "" "0000261435" "0" "10" "7" "33573737" "33573737" "subst" "0.00255431" "02326" "BBS9_000091" "g.33573737C>T" "" "" "" "BBS9(NM_198428.3):c.2470C>T (p.R824C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33534125C>T" "" "benign" "" "0000261436" "0" "10" "7" "33644596" "33644596" "subst" "0.000597518" "02326" "BBS9_000081" "g.33644596C>A" "" "" "" "BBS9(NM_198428.2):c.2632+9C>A, BBS9(NM_198428.3):c.2632+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33604984C>A" "" "benign" "" "0000261437" "0" "10" "7" "33217083" "33217083" "del" "0" "02326" "BBS9_000037" "g.33217083del" "" "" "" "BBS9(NM_198428.3):c.329-7del, BBS9(NM_198428.3):c.329-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33177471del" "" "benign" "" "0000261438" "0" "10" "7" "33217083" "33217083" "subst" "0" "02326" "BBS9_000039" "g.33217083T>C" "" "" "" "BBS9(NM_198428.3):c.329-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33177471T>C" "" "benign" "" "0000261439" "0" "90" "7" "33312753" "33312753" "subst" "4.06458E-6" "02326" "BBS9_000004" "g.33312753C>T" "" "" "" "BBS9(NM_198428.3):c.832C>T (p.R278*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33273141C>T" "" "pathogenic" "" "0000263606" "0" "50" "7" "33313566" "33313566" "subst" "1.22126E-5" "01943" "BBS9_000044" "g.33313566G>T" "" "" "" "BBS9(NM_198428.2):c.1014G>T (p.L338F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33273954G>T" "" "VUS" "" "0000263607" "0" "50" "7" "33313567" "33313567" "subst" "8.14206E-6" "01943" "BBS9_000045" "g.33313567C>T" "" "" "" "BBS9(NM_198428.2):c.1015C>T (p.H339Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33273955C>T" "" "VUS" "" "0000263608" "0" "10" "7" "33376047" "33376047" "subst" "0.0394396" "01943" "BBS9_000046" "g.33376047T>C" "" "" "" "BBS9(NM_198428.2):c.1017-6T>C, BBS9(NM_198428.3):c.1017-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33336435T>C" "" "benign" "" "0000263609" "0" "10" "7" "33380556" "33380556" "subst" "0.00597559" "01943" "BBS9_000002" "g.33380556G>A" "" "" "" "BBS9(NM_198428.2):c.1246G>A (p.V416M), BBS9(NM_198428.3):c.1246G>A (p.V416M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33340944G>A" "" "benign" "" "0000263610" "0" "10" "7" "33380598" "33380598" "subst" "0.240281" "01943" "BBS9_000049" "g.33380598G>T" "" "" "" "BBS9(NM_198428.2):c.1275+13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33340986G>T" "" "benign" "" "0000263611" "0" "10" "7" "33388713" "33388713" "subst" "0.205651" "01943" "BBS9_000051" "g.33388713G>A" "" "" "" "BBS9(NM_198428.2):c.1363G>A (p.A455T), BBS9(NM_198428.3):c.1363G>A (p.A455T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33349101G>A" "" "benign" "" "0000263612" "0" "10" "7" "33397476" "33397476" "subst" "0.00218001" "01943" "BBS9_000057" "g.33397476G>A" "" "" "" "BBS9(NM_198428.2):c.1562G>A (p.R521Q), BBS9(NM_198428.3):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357864G>A" "" "benign" "" "0000263613" "0" "90" "7" "33423280" "33423280" "subst" "0" "01943" "BBS9_000062" "g.33423280C>T" "" "" "" "BBS9(NM_001348038.2):c.1519C>T (p.R507*), BBS9(NM_198428.3):c.1792C>T (p.R598*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383668C>T" "" "pathogenic" "" "0000263614" "0" "50" "7" "33423334" "33423334" "subst" "4.11526E-6" "01943" "BBS9_000064" "g.33423334C>A" "" "" "" "BBS9(NM_198428.2):c.1846C>A (p.L616I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383722C>A" "" "VUS" "" "0000263615" "0" "30" "7" "33427634" "33427634" "subst" "0.00092197" "01943" "BBS9_000066" "g.33427634C>T" "" "" "" "BBS9(NM_001348038.3):c.1720C>T (p.L574F), BBS9(NM_198428.2):c.1993C>T (p.L665F), BBS9(NM_198428.3):c.1993C>T (p.L665F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33388022C>T" "" "likely benign" "" "0000263616" "0" "50" "7" "33192405" "33192405" "subst" "8.12698E-6" "01943" "BBS9_000033" "g.33192405C>A" "" "" "" "BBS9(NM_198428.2):c.205C>A (p.L69I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33152793C>A" "" "VUS" "" "0000263617" "0" "10" "7" "33427727" "33427727" "subst" "0.00217275" "01943" "BBS9_000069" "g.33427727G>A" "" "" "" "BBS9(NM_198428.2):c.2086G>A (p.D696N), BBS9(NM_198428.3):c.2086G>A (p.D696N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33388115G>A" "" "benign" "" "0000263618" "0" "10" "7" "33545175" "33545175" "subst" "0.000704415" "01943" "BBS9_000070" "g.33545175C>T" "" "" "" "BBS9(NM_198428.2):c.2216C>T (p.A739V), BBS9(NM_198428.3):c.2216C>T (p.A739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33505563C>T" "" "benign" "" "0000263619" "0" "30" "7" "33217084" "33217084" "subst" "0" "01943" "BBS9_000040" "g.33217084C>T" "" "" "" "BBS9(NM_001033604.1):c.329-6C>T (p.(=)), BBS9(NM_198428.2):c.329-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33177472C>T" "" "likely benign" "" "0000263620" "0" "30" "7" "33296945" "33296945" "subst" "0" "01943" "BBS9_000041" "g.33296945G>A" "" "" "" "BBS9(NM_198428.2):c.540G>A (p.L180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33257333G>A" "" "likely benign" "" "0000337808" "0" "10" "7" "33169258" "33169258" "subst" "0" "02327" "BBS9_000082" "g.33169258C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33129646C>G" "" "benign" "" "0000337809" "0" "10" "7" "33169660" "33169660" "subst" "0" "02327" "BBS9_000083" "g.33169660T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33130048T>C" "" "benign" "" "0000337815" "0" "10" "7" "33380598" "33380598" "subst" "0.240281" "02327" "BBS9_000049" "g.33380598G>T" "" "" "" "BBS9(NM_198428.2):c.1275+13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33340986G>T" "" "benign" "" "0000341453" "0" "10" "7" "33388713" "33388713" "subst" "0.205651" "02327" "BBS9_000051" "g.33388713G>A" "" "" "" "BBS9(NM_198428.2):c.1363G>A (p.A455T), BBS9(NM_198428.3):c.1363G>A (p.A455T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33349101G>A" "" "benign" "" "0000342520" "0" "90" "7" "33312753" "33312753" "subst" "4.06458E-6" "02327" "BBS9_000004" "g.33312753C>T" "" "" "" "BBS9(NM_198428.3):c.832C>T (p.R278*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33273141C>T" "" "pathogenic" "" "0000344418" "0" "50" "7" "33397518" "33397518" "subst" "8.14604E-6" "02327" "BBS9_000085" "g.33397518G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357906G>A" "" "VUS" "" "0000347615" "0" "90" "7" "33423365" "33423368" "del" "0" "02327" "BBS9_000086" "g.33423365_33423368del" "" "" "" "BBS9(NM_001348038.3):c.1604_1607delAACA (p.K535Rfs*22), BBS9(NM_198428.3):c.1877_1880delAACA (p.K626Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33383753_33383756del" "" "pathogenic" "" "0000348490" "0" "50" "7" "33397473" "33397473" "subst" "0.000118188" "02327" "BBS9_000056" "g.33397473C>T" "" "" "" "BBS9(NM_198428.3):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33357861C>T" "" "VUS" "" "0000350573" "0" "50" "7" "33390912" "33390912" "subst" "4.06342E-6" "02327" "BBS9_000084" "g.33390912T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33351300T>C" "" "VUS" "" "0000352483" "21" "50" "7" "33313459" "33313459" "subst" "0" "02380" "BBS9_000087" "g.33313459A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33273847A>T" "" "VUS" "" "0000352484" "11" "50" "7" "33545168" "33545168" "subst" "0" "02380" "BBS9_000088" "g.33545168C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33505556C>G" "" "VUS" "" "0000358177" "3" "90" "7" "33376099" "33376099" "subst" "0" "01243" "BBS9_000089" "g.33376099C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.33336487C>T" "" "pathogenic" "" "0000487544" "3" "90" "7" "33385984" "33385984" "subst" "0" "03335" "BBS9_000092" "g.33385984C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33346372C>T" "" "pathogenic" "" "0000531854" "0" "10" "7" "33185898" "33185898" "subst" "0.00323249" "02326" "BBS9_000093" "g.33185898A>G" "" "" "" "BBS9(NM_198428.3):c.34A>G (p.T12A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33146286A>G" "" "benign" "" "0000531855" "0" "30" "7" "33192305" "33192305" "subst" "0" "01804" "BBS9_000094" "g.33192305C>T" "" "" "" "BBS9(NM_001033604.1):c.113-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33152693C>T" "" "likely benign" "" "0000531857" "0" "50" "7" "33192350" "33192350" "subst" "0" "01943" "BBS9_000096" "g.33192350G>C" "" "" "" "BBS9(NM_198428.2):c.150G>C (p.R50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33152738G>C" "" "VUS" "" "0000531858" "0" "30" "7" "33195330" "33195341" "del" "0.000523421" "02330" "BBS9_000097" "g.33195330_33195341del" "" "" "" "BBS9(NM_198428.3):c.328+16_328+27delACCAATGTAGAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33155718_33155729del" "" "likely benign" "" "0000531860" "0" "30" "7" "33217084" "33217084" "subst" "0" "01804" "BBS9_000040" "g.33217084C>T" "" "" "" "BBS9(NM_001033604.1):c.329-6C>T (p.(=)), BBS9(NM_198428.2):c.329-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177472C>T" "" "likely benign" "" "0000531861" "0" "30" "7" "33217085" "33217085" "subst" "0" "01804" "BBS9_000098" "g.33217085C>T" "" "" "" "BBS9(NM_001033604.1):c.329-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177473C>T" "" "likely benign" "" "0000531863" "0" "30" "7" "33217088" "33217088" "subst" "0" "01804" "BBS9_000099" "g.33217088A>T" "" "" "" "BBS9(NM_001033604.1):c.329-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177476A>T" "" "likely benign" "" "0000531865" "0" "30" "7" "33217089" "33217089" "subst" "0" "01804" "BBS9_000100" "g.33217089G>T" "" "" "" "BBS9(NM_001033604.1):c.329-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177477G>T" "" "likely benign" "" "0000531867" "0" "50" "7" "33217091" "33217091" "subst" "0" "01804" "BBS9_000102" "g.33217091A>T" "" "" "" "BBS9(NM_001033604.1):c.330A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177479A>T" "" "VUS" "" "0000531868" "0" "50" "7" "33217203" "33217203" "subst" "4.06534E-6" "02330" "BBS9_000103" "g.33217203G>C" "" "" "" "BBS9(NM_198428.3):c.442G>C (p.G148R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33177591G>C" "" "VUS" "" "0000531869" "0" "30" "7" "33296840" "33296840" "subst" "0" "01943" "BBS9_000104" "g.33296840T>C" "" "" "" "BBS9(NM_198428.2):c.443-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33257228T>C" "" "likely benign" "" "0000531870" "0" "30" "7" "33296936" "33296936" "subst" "0.000199151" "01943" "BBS9_000105" "g.33296936C>A" "" "" "" "BBS9(NM_198428.2):c.531C>A (p.G177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33257324C>A" "" "likely benign" "" "0000531871" "0" "10" "7" "33296960" "33296960" "subst" "0.00217872" "02330" "BBS9_000106" "g.33296960C>T" "" "" "" "BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33257348C>T" "" "benign" "" "0000531872" "0" "30" "7" "33296960" "33296960" "subst" "0.00217872" "01943" "BBS9_000106" "g.33296960C>T" "" "" "" "BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33257348C>T" "" "likely benign" "" "0000531873" "0" "90" "7" "33297002" "33297002" "subst" "4.06656E-6" "02325" "BBS9_000107" "g.33297002C>A" "" "" "" "BBS9(NM_001348038.3):c.324C>A (p.C108*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33257390C>A" "" "pathogenic" "" "0000531874" "0" "10" "7" "33303884" "33303884" "subst" "1.06696E-5" "02330" "BBS9_000108" "g.33303884T>A" "" "" "" "BBS9(NM_198428.3):c.618-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33264272T>A" "" "benign" "" "0000531875" "0" "30" "7" "33376047" "33376047" "subst" "0.0394396" "01804" "BBS9_000046" "g.33376047T>C" "" "" "" "BBS9(NM_198428.2):c.1017-6T>C, BBS9(NM_198428.3):c.1017-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33336435T>C" "" "likely benign" "" "0000531876" "0" "10" "7" "33376146" "33376146" "subst" "0.0013726" "01943" "BBS9_000109" "g.33376146C>T" "" "" "" "BBS9(NM_198428.2):c.1110C>T (p.N370=), BBS9(NM_198428.3):c.1110C>T (p.N370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33336534C>T" "" "benign" "" "0000531879" "0" "50" "7" "33384197" "33384197" "subst" "0.00495813" "01943" "BBS9_000003" "g.33384197C>T" "" "" "" "BBS9(NM_001033604.1):c.1280C>T (p.(Ala427Val)), BBS9(NM_198428.2):c.1280C>T (p.A427V), BBS9(NM_198428.3):c.1280C>T (p.A427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33344585C>T" "" "VUS" "" "0000531880" "0" "30" "7" "33384197" "33384197" "subst" "0.00495813" "02326" "BBS9_000003" "g.33384197C>T" "" "" "" "BBS9(NM_001033604.1):c.1280C>T (p.(Ala427Val)), BBS9(NM_198428.2):c.1280C>T (p.A427V), BBS9(NM_198428.3):c.1280C>T (p.A427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33344585C>T" "" "likely benign" "" "0000531882" "0" "90" "7" "33390866" "33390866" "del" "0" "02325" "BBS9_000052" "g.33390866del" "" "" "" "BBS9(NM_198428.3):c.1468delT (p.Y490Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33351254del" "" "pathogenic" "" "0000531883" "0" "30" "7" "33397562" "33397562" "subst" "0.000508672" "01943" "BBS9_000059" "g.33397562A>G" "" "" "" "BBS9(NM_198428.2):c.1648A>G (p.I550V), BBS9(NM_198428.3):c.1648A>G (p.I550V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33357950A>G" "" "likely benign" "" "0000531886" "0" "10" "7" "33407373" "33407373" "subst" "0.00912992" "02326" "BBS9_000111" "g.33407373T>C" "" "" "" "BBS9(NM_198428.3):c.1694-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33367761T>C" "" "benign" "" "0000531887" "0" "90" "7" "33407475" "33407475" "subst" "4.06309E-6" "01943" "BBS9_000112" "g.33407475G>C" "" "" "" "BBS9(NM_198428.2):c.1789+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33367863G>C" "" "pathogenic" "" "0000531889" "0" "50" "7" "33427698" "33427698" "subst" "2.84276E-5" "02330" "BBS9_000113" "g.33427698A>T" "" "" "" "BBS9(NM_001033604.1):c.1952A>T (p.(Asp651Val)), BBS9(NM_198428.3):c.2057A>T (p.D686V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33388086A>T" "" "VUS" "" "0000531890" "0" "50" "7" "33427700" "33427700" "subst" "2.43651E-5" "02325" "BBS9_000068" "g.33427700A>G" "" "" "" "BBS9(NM_001348038.2):c.1786A>G (p.K596E), BBS9(NM_198428.3):c.2059A>G (p.K687E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33388088A>G" "" "VUS" "" "0000531891" "0" "10" "7" "33427727" "33427727" "subst" "0.00217275" "02330" "BBS9_000069" "g.33427727G>A" "" "" "" "BBS9(NM_198428.2):c.2086G>A (p.D696N), BBS9(NM_198428.3):c.2086G>A (p.D696N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33388115G>A" "" "benign" "" "0000531892" "0" "10" "7" "33545055" "33545055" "subst" "0.00169734" "02330" "BBS9_000114" "g.33545055G>A" "" "" "" "BBS9(NM_198428.3):c.2116-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33505443G>A" "" "benign" "" "0000531893" "0" "30" "7" "33545200" "33545200" "subst" "0.000175074" "01943" "BBS9_000115" "g.33545200C>T" "" "" "" "BBS9(NM_198428.2):c.2241C>T (p.D747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33505588C>T" "" "likely benign" "" "0000531894" "0" "30" "7" "33545217" "33545217" "subst" "0.000810274" "02326" "BBS9_000072" "g.33545217A>T" "" "" "" "BBS9(NM_198428.3):c.2258A>T (p.E753V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33505605A>T" "" "likely benign" "" "0000531895" "0" "30" "7" "33545250" "33545250" "subst" "2.03875E-5" "01804" "BBS9_000116" "g.33545250A>G" "" "" "" "BBS9(NM_001033604.1):c.2186A>G (p.(Gln729Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33505638A>G" "" "likely benign" "" "0000531896" "0" "50" "7" "33573565" "33573565" "subst" "4.06095E-6" "01804" "BBS9_000075" "g.33573565G>A" "" "" "" "BBS9(NM_001033604.1):c.2194-1G>A (p.?), BBS9(NM_198428.2):c.2299-1G>A, BBS9(NM_198428.3):c.2299-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33533953G>A" "" "VUS" "" "0000531897" "0" "30" "7" "33644596" "33644596" "subst" "0.000597518" "01943" "BBS9_000081" "g.33644596C>A" "" "" "" "BBS9(NM_198428.2):c.2632+9C>A, BBS9(NM_198428.3):c.2632+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33604984C>A" "" "likely benign" "" "0000611049" "0" "30" "7" "33384197" "33384197" "subst" "0.00495813" "01804" "BBS9_000003" "g.33384197C>T" "" "" "" "BBS9(NM_001033604.1):c.1280C>T (p.(Ala427Val)), BBS9(NM_198428.2):c.1280C>T (p.A427V), BBS9(NM_198428.3):c.1280C>T (p.A427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33344585C>T" "" "likely benign" "" "0000611050" "0" "50" "7" "33397472" "33397472" "subst" "3.26057E-5" "01943" "BBS9_000118" "g.33397472C>T" "" "" "" "BBS9(NM_001348038.2):c.1285C>T (p.P429S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33357860C>T" "" "VUS" "" "0000611052" "0" "70" "7" "33573565" "33573565" "subst" "4.06095E-6" "01943" "BBS9_000075" "g.33573565G>A" "" "" "" "BBS9(NM_001033604.1):c.2194-1G>A (p.?), BBS9(NM_198428.2):c.2299-1G>A, BBS9(NM_198428.3):c.2299-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33533953G>A" "" "likely pathogenic" "" "0000632302" "3" "70" "7" "33313517" "33313517" "subst" "4.07103E-6" "03470" "BBS9_000120" "g.33313517G>A" "" "" "" "g.144662G>A" "" "Germline" "yes" "" "0" "" "" "g.33273905G>A" "" "likely pathogenic (recessive)" "" "0000652290" "1" "70" "7" "33192463" "33192463" "subst" "4.06402E-6" "03575" "BBS9_000121" "g.33192463C>A" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs749974697}" "Germline" "" "rs749974697" "0" "" "" "g.33152851C>A" "" "likely pathogenic" "" "0000652291" "1" "50" "7" "33384197" "33384197" "subst" "0.00495813" "03575" "BBS9_000003" "g.33384197C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs138072724}" "Germline" "" "rs138072724" "0" "" "" "g.33344585C>T" "" "VUS" "" "0000652292" "1" "50" "7" "33427727" "33427727" "subst" "0.00217275" "03575" "BBS9_000069" "g.33427727G>A" "29/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs117543061}" "Germline" "" "rs117543061" "0" "" "" "g.33388115G>A" "" "VUS" "" "0000652293" "1" "50" "7" "33573576" "33573576" "subst" "0.000121822" "03575" "BBS9_000122" "g.33573576A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININ7:33573576}" "Germline" "" "" "0" "" "" "g.33533964A>G" "" "VUS" "" "0000652294" "1" "50" "7" "33573630" "33573630" "subst" "0.000657815" "03575" "BBS9_000077" "g.33573630C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs61753526}" "Germline" "" "rs61753526" "0" "" "" "g.33534018C>T" "" "VUS" "" "0000652295" "1" "10" "7" "33573737" "33573737" "subst" "0.00255431" "03575" "BBS9_000091" "g.33573737C>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs146752751}" "Germline" "" "rs146752751" "0" "" "" "g.33534125C>T" "" "benign" "" "0000655823" "0" "50" "7" "33312657" "33312657" "subst" "0.000142265" "01943" "BBS9_000123" "g.33312657C>T" "" "" "" "BBS9(NM_001348038.2):c.463C>T (p.L155F), BBS9(NM_198428.3):c.736C>T (p.(Leu246Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33273045C>T" "" "VUS" "" "0000655824" "0" "30" "7" "33545173" "33545173" "subst" "0.000146574" "01943" "BBS9_000124" "g.33545173C>T" "" "" "" "BBS9(NM_001348038.2):c.1941C>T (p.I647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33505561C>T" "" "likely benign" "" "0000678098" "0" "50" "7" "33427700" "33427700" "subst" "2.43651E-5" "01943" "BBS9_000068" "g.33427700A>G" "" "" "" "BBS9(NM_001348038.2):c.1786A>G (p.K596E), BBS9(NM_198428.3):c.2059A>G (p.K687E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678099" "0" "50" "7" "33573576" "33573576" "subst" "0.000121822" "01943" "BBS9_000122" "g.33573576A>G" "" "" "" "BBS9(NM_001348038.2):c.2036A>G (p.E679G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684693" "1" "50" "7" "33312700" "33312700" "subst" "0" "00004" "BBS9_000125" "g.33312700T>G" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000684720" "2" "70" "7" "33573686" "33573686" "subst" "0" "00004" "BBS9_000126" "g.33573686C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000685027" "0" "90" "7" "33376099" "33376099" "subst" "0" "00004" "BBS9_000089" "g.33376099C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000710248" "3" "70" "7" "33385984" "33385984" "subst" "0" "00006" "BBS9_000092" "g.33385984C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PS3, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.33346372C>T" "" "likely pathogenic" "ACMG" "0000721434" "0" "90" "7" "33423365" "33423368" "del" "0" "02329" "BBS9_000065" "g.33423365_33423368del" "" "" "" "BBS9(NM_001348038.3):c.1604_1607delAACA (p.K535Rfs*22), BBS9(NM_198428.3):c.1877_1880delAACA (p.K626Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000731556" "1" "50" "7" "33380565" "33380565" "subst" "8.12453E-5" "00000" "BBS9_000127" "g.33380565C>G" "" "{PMID:Comander 2017:28981474}" "" "" "" "Germline" "" "" "0" "" "" "g.33340953C>G" "" "VUS" "" "0000731572" "2" "50" "7" "33545217" "33545217" "subst" "0.000810274" "00000" "BBS9_000072" "g.33545217A>T" "" "{PMID:Comander 2017:28981474}" "" "" "" "Germline" "" "" "0" "" "" "g.33505605A>T" "" "VUS" "" "0000732442" "0" "90" "7" "33303950" "33303950" "subst" "9.5561E-5" "00000" "BBS9_000128" "g.33303950T>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.33264338T>A" "" "pathogenic" "" "0000732496" "0" "90" "7" "33545173" "33545173" "subst" "0.000146574" "00000" "BBS9_000124" "g.33545173C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.33505561C>T" "" "pathogenic" "" "0000733323" "3" "70" "7" "33423365" "33423368" "del" "0" "00000" "BBS9_000065" "g.33423365_33423368del" "" "{PMID:Stone 2017:28559085}" "" "1876_1879delAAAC" "" "Germline" "" "" "0" "" "" "g.33383753_33383756del" "" "likely pathogenic" "" "0000759581" "3" "90" "7" "33296947" "33296947" "subst" "4.06425E-6" "00000" "BBS9_000129" "g.33296947C>G" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.33257335C>G" "" "pathogenic" "" "0000759704" "11" "50" "7" "33427634" "33427634" "subst" "0.00092197" "00000" "BBS9_000066" "g.33427634C>T" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.33388022C>T" "" "VUS" "" "0000759995" "0" "50" "7" "33573630" "33573630" "subst" "0.000657815" "00000" "BBS9_000077" "g.33573630C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.33534018C>T" "" "VUS" "" "0000760020" "0" "50" "7" "33427608" "33427608" "subst" "4.4686E-5" "00000" "BBS9_000130" "g.33427608G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.33387996G>A" "" "VUS" "" "0000764916" "3" "70" "7" "33397608" "33397608" "subst" "0" "00000" "BBS9_000131" "g.33397608G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.33357996G>A" "" "likely pathogenic (recessive)" "" "0000765540" "3" "90" "7" "33185968" "33185980" "del" "0" "00000" "BBS9_000132" "g.33185968_33185980del" "" "{PMID:Ece Solmaz 2015:26518167}" "" "102_112+2delAAATGGACAAGGT" "" "Germline" "" "" "0" "" "" "g.33146356_33146368del" "" "pathogenic (recessive)" "" "0000765914" "0" "70" "7" "33192463" "33192463" "subst" "4.06402E-6" "00000" "BBS9_000121" "g.33192463C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.33152851C>A" "" "likely pathogenic" "" "0000792411" "0" "70" "7" "33313572" "33313572" "del" "0" "03508" "BBS9_000133" "g.33313572del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33273960del" "" "VUS" "ACMG" "0000794879" "0" "70" "7" "33390830" "33427757" "del" "0" "03508" "BBS9_000134" "g.(33388783_33390830)_(33427757_33545074)del" "" "" "" "1433-?_2115+?del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(33349171_33351218)_(33388145_33505462)del" "" "pathogenic" "ACMG" "0000795041" "0" "90" "7" "33645174" "33645174" "subst" "0" "00000" "BBS9_000135" "g.33645174A>G" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.*336A >G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796174" "3" "70" "7" "33312753" "33312753" "subst" "4.06458E-6" "00000" "BBS9_000004" "g.33312753C>T" "" "{PMID:Neveling-2013:24123792}" "" "c.832C>T" "-" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000797946" "0" "70" "7" "33192315" "33192315" "subst" "0" "00000" "BBS9_000136" "g.33192315A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS9 c.115A>G, p.(Lys39Glu)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.33152703A>G" "" "likely pathogenic" "ACMG" "0000797947" "0" "70" "7" "33192423" "33192423" "subst" "2.43829E-5" "00000" "BBS9_000034" "g.33192423C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS9 c.223C>T, p.(Arg75*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.33152811C>T" "" "likely pathogenic" "ACMG" "0000798084" "0" "70" "7" "33384194" "33384197" "del" "0" "00000" "BBS9_000137" "g.33384194_33384197del" "" "{PMID:Jespersgaar 2019:30718709}" "" "SAG c.(512+1_513-1), _(806+1_807-1), del , BBS9 c.1277_1280del, p.(Gln426Argfs*16)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.33344582_33344585del" "" "likely pathogenic" "ACMG" "0000803136" "0" "50" "7" "33195273" "33195273" "subst" "0" "01943" "BBS9_000138" "g.33195273C>G" "" "" "" "BBS9(NM_001348038.2):c.14C>G (p.A5G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803137" "0" "90" "7" "33303901" "33303901" "subst" "0" "02326" "BBS9_000139" "g.33303901G>T" "" "" "" "BBS9(NM_198428.3):c.618-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803138" "0" "30" "7" "33376242" "33376242" "subst" "0" "01943" "BBS9_000140" "g.33376242A>C" "" "" "" "BBS9(NM_001348038.2):c.925+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803139" "0" "30" "7" "33407369" "33407369" "subst" "8.12605E-6" "01943" "BBS9_000141" "g.33407369T>C" "" "" "" "BBS9(NM_001348038.2):c.1421-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803140" "0" "10" "7" "33674793" "33674793" "subst" "0" "02330" "BBS9_000142" "g.33674793C>T" "" "" "" "BBS9(NM_001348041.4):c.2637C>T (p.P879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810886" "0" "10" "7" "33388713" "33388713" "subst" "0.205651" "00000" "BBS9_000051" "g.33388713G>A" "0.17" "{PMID:Anasagasti-2013:24416769}" "" "p.Ala455Thr" "" "Germline" "yes" "rs11773504" "0" "" "" "" "" "benign (recessive)" "" "0000810910" "0" "50" "7" "33303848" "33303848" "subst" "0" "00000" "BBS9_000201" "g.33303848T>G" "" "{PMID:Anasagasti-2013:24416769}" "" "g.33303848T>G" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000810959" "3" "70" "7" "33407475" "33407475" "subst" "0" "00000" "BBS9_000148" "g.33407475G>A" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "IVS17+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810960" "3" "70" "7" "33423280" "33423280" "subst" "0" "00000" "BBS9_000062" "g.33423280C>T" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "1792C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810961" "3" "70" "7" "33427687" "33427688" "ins" "0" "00000" "BBS9_000149" "g.33427687_33427688insC" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "2046insC" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810962" "3" "70" "7" "33217182" "33217182" "subst" "0" "00000" "BBS9_000143" "g.33217182G>A" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "421G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810963" "3" "70" "7" "33376099" "33376099" "subst" "0" "00000" "BBS9_000089" "g.33376099C>T" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "1063C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810964" "0" "70" "7" "33217204" "33217204" "subst" "0" "00000" "BBS9_000144" "g.33217204G>C" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "IVS5+1G>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810965" "0" "70" "7" "33423365" "33423368" "del" "0" "00000" "BBS9_000065" "g.33423365_33423368del" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "1877_1880delAACA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810966" "3" "70" "7" "33423365" "33423368" "del" "0" "00000" "BBS9_000065" "g.33423365_33423368del" "0/110 unrelated controls" "{PMID:Nishimura-2005:16380913}" "" "1877_1880delAACA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810985" "3" "70" "7" "33303902" "33303986" "del" "0" "00000" "BBS9_000146" "g.33303902_33303986del" "" "{PMID:Sathya Priya-2015:24400638}" "" "r.618_702del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810991" "3" "70" "7" "33376231" "33376231" "subst" "0" "00000" "BBS9_000147" "g.33376231C>T" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1195C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811075" "3" "70" "7" "33644978" "33644978" "subst" "0" "00000" "BBS9_000154" "g.33644978G>A" "" "{PMID:Leitch-2008:18327255}" "" "c2804G>A" "G not found at position given, found A instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811133" "3" "90" "7" "33296867" "33296867" "subst" "0" "00000" "BBS9_000151" "g.33296867C>G" "" "{PMID:Muller-2010:20177705}" "" "c.462C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811134" "1" "90" "7" "33312753" "33312753" "subst" "4.06458E-6" "00000" "BBS9_000004" "g.33312753C>T" "" "{PMID:Muller-2010:20177705}" "" "c.832C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811135" "2" "90" "7" "33312753" "33312753" "subst" "4.06458E-6" "00000" "BBS9_000004" "g.33312753C>T" "" "{PMID:Muller-2010:20177705}" "" "c.832C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811137" "3" "90" "7" "33192442" "33192442" "subst" "0" "00000" "BBS9_000150" "g.33192442T>A" "" "{PMID:Muller-2010:20177705}" "" "c.242T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811138" "3" "90" "7" "33312623" "33313569" "del" "0" "00000" "BBS9_000152" "g.33312623_33313569del" "" "{PMID:Muller-2010:20177705}" "" "Del exon 8+9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811220" "3" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "Intragenic deletion of 31,275 bp (p.G767_P840del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811229" "3" "70" "7" "33573701" "33573702" "del" "0" "00000" "BBS9_000153" "g.33573701_33573702del" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.2434_2435delAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811514" "0" "50" "19" "33167783" "33167783" "dup" "0" "00000" "RGS9BP_000012" "g.33167783dup" "" "{PMID:Kim 2019:31496144}" "" "BBS9 c.779T>G, p.V260G" "" "Germline" "?" "" "0" "" "" "g.32676877dup" "" "VUS" "ACMG" "0000812984" "3" "70" "7" "33545217" "33545217" "subst" "0.000810274" "00000" "BBS9_000072" "g.33545217A>T" "" "{PMID:Jaffal 2019:31888296}" "" "c.2258A > T, p. (Glu753Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33505605A>T" "" "likely pathogenic" "ACMG" "0000813081" "0" "70" "7" "33192390" "33192390" "subst" "1.21922E-5" "00000" "BBS9_000155" "g.33192390C>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.190C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813082" "0" "70" "7" "33376156" "33376156" "subst" "4.07604E-6" "00000" "BBS9_000159" "g.33376156C>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.1120C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813157" "0" "90" "7" "33397560" "33397560" "subst" "0.00243793" "00000" "BBS9_000058" "g.33397560C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[T549I]+[=];" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813160" "0" "50" "7" "33427634" "33427634" "subst" "0.00092197" "00000" "BBS9_000066" "g.33427634C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[L665F]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813161" "3" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[S35X]+[S35X]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813162" "1" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[G539D]+[P632FfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813163" "2" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[G539D]+[P632FfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813164" "1" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[L88R]+[N461KfsX10]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813165" "2" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[L88R]+[N461KfsX10]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813224" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1546C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813226" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1546C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813228" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1546C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813230" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1546C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813276" "3" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813277" "3" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813278" "3" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813283" "0" "50" "7" "33388829" "33388829" "subst" "0.159682" "00000" "BBS9_000160" "g.33388829T>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1432+47T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813290" "0" "50" "7" "33376147" "33376147" "subst" "1.22192E-5" "00000" "BBS9_000158" "g.33376147G>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1111G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813293" "0" "50" "7" "33376147" "33376147" "subst" "1.22192E-5" "00000" "BBS9_000158" "g.33376147G>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1111G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813307" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.[1546C>A(;)1432+47T>A]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813308" "0" "50" "7" "33388829" "33388829" "subst" "0.159682" "00000" "BBS9_000160" "g.33388829T>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.[1546C>A(;)1432+47T>A]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813313" "0" "50" "7" "33392479" "33392479" "subst" "0.00376826" "00000" "BBS9_000054" "g.33392479C>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.[1546C>A(;)1432+47T>A]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813314" "0" "50" "7" "33388829" "33388829" "subst" "0.159682" "00000" "BBS9_000160" "g.33388829T>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.[1546C>A(;)1432+47T>A]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813320" "0" "50" "7" "33644444" "33644444" "subst" "0.00246998" "00000" "BBS9_000165" "g.33644444T>C" "" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "" "c.2522-33T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813323" "0" "50" "7" "33388829" "33388829" "subst" "0.159682" "00000" "BBS9_000160" "g.33388829T>A" "" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "" "c.1432+47T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813328" "0" "50" "7" "33397709" "33397709" "subst" "0" "00000" "BBS9_000162" "g.33397709G>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1693+102G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813333" "0" "50" "7" "33397709" "33397709" "subst" "0" "00000" "BBS9_000162" "g.33397709G>A" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1693+102G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813912" "0" "90" "7" "33217157" "33217157" "subst" "8.94207E-5" "00000" "BBS9_000157" "g.33217157G>C" "" "{PMID:Chen-2011:21642631}" "" "c.396G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813984" "0" "50" "7" "33423409" "33423409" "subst" "0" "00000" "BBS9_000163" "g.33423409C>T" "" "{PMID:Redin-2012:22773737}" "" "c.[1921C>T];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814075" "0" "50" "7" "33645174" "33645174" "subst" "0" "00000" "BBS9_000135" "g.33645174A>G" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS9: c.*336A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814104" "0" "50" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.G119S; p.Y263H]" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814167" "2" "70" "7" "33397520" "33397520" "subst" "0.000818497" "00000" "BBS9_000161" "g.33397520C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.L414S]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814184" "3" "70" "7" "33217090" "33545257" "del" "0" "00000" "BBS9_000156" "g.33217090_33545257del1970" "" "{PMID:Deveault-2011:21344540}" "" "K41fsX52/K41fsX52" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814228" "3" "70" "7" "33427634" "33427634" "subst" "0.00092197" "00000" "BBS9_000066" "g.33427634C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.K243IfsX15];[p.K243IfsX15]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814230" "3" "70" "7" "33397560" "33397560" "subst" "0.00243793" "00000" "BBS9_000058" "g.33397560C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.S35X];[p.S35X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814245" "0" "70" "7" "33573603" "33573603" "subst" "0.000487286" "00000" "BBS9_000164" "g.33573603T>A" "" "{PMID:Deveault-2011:21344540}" "" "P134fsX200/L209fsX229" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814556" "0" "90" "7" "0" "0" "del" "0" "00000" "BBS9_000145" "g.?" "" "{PMID:Janssen-2011:21052717}" "" "NM_198428:c.2390_2393delAACA(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814557" "0" "90" "7" "33573787" "33573788" "dup" "0" "00000" "BBS9_000168" "g.33573787_33573788dup" "" "{PMID:Janssen-2011:21052717}" "" "c.2521_2522insAG(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814558" "0" "90" "7" "0" "0" "del" "0" "00000" "BBS9_000145" "g.?" "" "{PMID:Janssen-2011:21052717}" "" "NM_198428:c.2390_2393delAACA(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814559" "0" "90" "7" "33573787" "33573788" "dup" "0" "00000" "BBS9_000168" "g.33573787_33573788dup" "" "{PMID:Janssen-2011:21052717}" "" "c.2521_2522insAG(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814573" "3" "90" "7" "33397470" "33397470" "subst" "0" "00000" "BBS9_000167" "g.33397470T>G" "" "{PMID:Janssen-2011:21052717}" "" "c.1556T>G(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814575" "0" "70" "7" "0" "0" "subst" "0" "00000" "BBS9_000145" "g.?" "0.9% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.2849T>A(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814586" "0" "70" "7" "0" "0" "subst" "0" "00000" "BBS9_000145" "g.?" "6.2% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.2983C>T(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814672" "3" "90" "7" "33390934" "33390934" "subst" "4.06431E-6" "00000" "BBS9_000166" "g.33390934A>G" "" "{PMID:Lindstrand-2014:24746959}" "" "c.1536A>G [p.(=)]; hom                    " "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814674" "3" "90" "7" "33390934" "33390934" "subst" "4.06431E-6" "00000" "BBS9_000166" "g.33390934A>G" "" "{PMID:Lindstrand-2014:24746959}" "" "c.1536A>G[p.(=)];hom" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814676" "3" "90" "7" "33407474" "33407474" "subst" "0" "00000" "BBS9_000026" "g.33407474C>T" "" "{PMID:Lindstrand-2014:24746959}" "" "c.1789C>T(p.Gln597*);hom" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815038" "3" "90" "7" "33423399" "33423399" "subst" "0" "00000" "BBS9_000170" "g.33423399G>T" "" "{PMID:Fattahi 2014:24849935}" "" "c.1789+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815050" "3" "90" "7" "33192464" "33192464" "subst" "1.62566E-5" "00000" "BBS9_000169" "g.33192464G>A" "" "{PMID:Fattahi 2014:24849935}" "" "c.263+1G>A/r.776_777insATAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000816536" "0" "50" "7" "33134160" "33186226" "dup" "0" "00000" "BBS9_000145" "g.33134160_33186226dup" "" "{PMID:Zampaglione 2020:32037395}" "" "BBS9 chr7:33134160_33186226dup" "duplication of RP9 but more importantly of BBS9 ex1-2! Ex 2 is the first coding exon and is out of frame, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000816889" "2" "70" "7" "33384198" "33384198" "subst" "8.1213E-6" "00000" "BBS9_000171" "g.33384198G>A" "" "{PMID:Jauregui 2020:32098976}" "" "BBS9 c.1281G>A, p.A427A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.33344586G>A" "" "likely pathogenic" "" "0000817928" "3" "90" "7" "33397608" "33397608" "subst" "0" "00006" "BBS9_000131" "g.33397608G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.33357996G>A" "" "pathogenic (recessive)" "ACMG" "0000818395" "0" "50" "7" "33573737" "33573737" "subst" "0.00255431" "00000" "BBS9_000091" "g.33573737C>T" "" "{PMID:Qi_2017:28624958}" "" "c.2470C>T" "" "Germline" "" "rs146752751" "0" "" "" "" "" "VUS" "" "0000818984" "0" "50" "7" "0" "0" "" "0" "00000" "RP9_000025" "g.(?_33134409)_(33185977_33192312)" "" "{PMID:Ellingsford 2018:29074561}" "" "chr7:33134841-33185981" "variant identified in 5 unrelated patients" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819380" "1" "70" "7" "33192464" "33192464" "subst" "0" "00000" "BBS9_000172" "g.33192464G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS9, variant 1: c.263+1G>T/p.?, variant 2: c.263+1G>T/p.?" "different transcript used in the paper, NM_001033604.1, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.33152852G>T" "" "likely pathogenic" "" "0000819381" "1" "70" "7" "33192464" "33192464" "subst" "0" "00000" "BBS9_000172" "g.33192464G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS9, variant 1: c.263+1G>T/p.?, variant 2: c.263+1G>T/p.?" "different transcript used in the paper, NM_001033604.1, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.33152852G>T" "" "likely pathogenic" "" "0000819385" "1" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS9, variant 1 :Deletion exon 16, variant 2 :Deletion exon 16" "different transcript used in the paper, NM_001033604.1; exon 17 deleted in NM_198428.2, solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819386" "1" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS9, variant 1 :Deletion exon 16, variant 2 :Deletion exon 16" "different transcript used in the paper, NM_001033604.1; exon 17 deleted in NM_198428.2, solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819487" "1" "70" "7" "33397608" "33397608" "subst" "0" "00000" "BBS9_000131" "g.33397608G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS9, variant 1: c.1693+1G>A/p.?, variant 2: c.1693+1G>A/p.?" "error in annotation, indicated transcript is NM_001033604.1, which does not have splice site at c.1693+1 - it is a NM_198428.2 coordinate, solved, homozygous" "Germline" "yes" "" "0" "" "" "g.33357996G>A" "" "likely pathogenic" "" "0000822758" "3" "70" "7" "33313517" "33313517" "subst" "4.07103E-6" "00000" "BBS9_000120" "g.33313517G>A" "" "{PMID:Gumus 2021:32686083}" "" "BBS9* (NM_198428) (LOVD#0000632302), c.965G > A, p.(Trp322*), Nonsense" "homozygous" "Germline" "?" "" "0" "" "" "g.33273905G>A" "" "likely pathogenic" "" "0000824917" "11" "90" "7" "33296850" "33296850" "subst" "1.22352E-5" "00000" "BBS9_000175" "g.33296850C>T" "" "{PMID:Meng 2021:33777945}" "" "BBS9 c.445C > T, p.R149*" "heterozygous" "Germline" "yes" "rs781174906" "0" "" "" "g.33257238C>T" "" "pathogenic" "ACMG" "0000824918" "10" "90" "7" "33185938" "33185938" "del" "0" "00000" "BBS9_000173" "g.33185938del" "" "{PMID:Meng 2021:33777945}" "" "BBS9 c.72delT, p.L25Cfs*16" "heterozygous" "Germline" "yes" "" "0" "" "" "g.33146326del" "" "pathogenic" "ACMG" "0000824926" "21" "90" "7" "33192465" "33192465" "del" "0" "00000" "BBS9_000174" "g.33192465del" "" "{PMID:Meng 2021:33777945}" "" "BBS9 c.263 + 2delT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.33152853del" "" "pathogenic" "ACMG" "0000824927" "21" "90" "7" "33376235" "33376235" "subst" "0" "00000" "BBS9_000176" "g.33376235G>A" "" "{PMID:Meng 2021:33777945}" "" "BBS9 c.1198 + 1G > A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.33336623G>A" "" "pathogenic" "ACMG" "0000827112" "0" "90" "7" "33397608" "33397608" "subst" "0" "00000" "BBS9_000131" "g.33397608G>A" "" "{PMID:Jeziorny-2020:33138063}" "" "c.1693+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827113" "0" "90" "7" "33192390" "33192390" "subst" "1.21922E-5" "00000" "BBS9_000155" "g.33192390C>T" "" "{PMID:Jeziorny-2020:33138063}" "" "c.190C> T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827115" "0" "90" "7" "33407475" "33407475" "subst" "4.06309E-6" "00000" "BBS9_000112" "g.33407475G>C" "" "{PMID:Jeziorny-2020:33138063}" "" "c.1789+1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827116" "0" "90" "7" "33192390" "33192390" "subst" "1.21922E-5" "00000" "BBS9_000155" "g.33192390C>T" "" "{PMID:Jeziorny-2020:33138063}" "" "c.190C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827119" "3" "90" "7" "33392473" "33392473" "subst" "4.06504E-6" "00000" "BBS9_000183" "g.33392473C>T" "" "{PMID:Jeziorny-2020:33138063}" "" "c.1540C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827840" "0" "90" "7" "33185872" "33185872" "del" "0" "00000" "BBS9_000177" "g.33185872del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.6_6delT, p.L3Yfs*38" "c.6_6delT automapped to c.8del, heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.33146260del" "" "pathogenic" "ACMG" "0000827851" "0" "90" "7" "33296991" "33296992" "del" "0" "00000" "BBS9_000179" "g.33296991_33296992del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.585_586del, p.V196LFs*10" "different transcript, NM_001348040.2(BBS9):(automapped) c.586_587del, p.(Val196Leufs*10), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.33257379_33257380del" "" "pathogenic" "ACMG" "0000827853" "0" "70" "7" "33312706" "33312706" "subst" "4.06392E-6" "00000" "BBS9_000180" "g.33312706T>C" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.T785C, p.V262A" "homozygous; solved" "Unknown" "?" "" "0" "" "" "g.33273094T>C" "" "likely pathogenic" "ACMG" "0000827854" "0" "50" "7" "33380537" "33380537" "subst" "1.21872E-5" "00000" "BBS9_000181" "g.33380537T>A" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.T1227A, p.D409E" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.33340925T>A" "" "VUS" "ACMG" "0000827857" "0" "90" "7" "33195296" "33195296" "del" "0" "00000" "BBS9_000178" "g.33195296del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.175del, p.C59fs*20" "different transcript, NM_001348042.2(BBS9):c.175del, p.(Cys59Valfs*20), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.33155684del" "" "pathogenic" "ACMG" "0000827895" "0" "90" "7" "33384194" "33384197" "del" "0" "00000" "BBS9_000137" "g.33384194_33384197del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.1276-2_1277delAGCA, Q426Sfs*5" "c.1276-2_1277delAGCA automapped to c.1277_1280del, heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.33344582_33344585del" "" "pathogenic" "ACMG" "0000827896" "0" "90" "7" "33545112" "33545112" "del" "0" "00000" "BBS9_000184" "g.33545112del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 c.2033delG, p.G678Afs*10" "different transcript, NM_001348040.2(BBS9):c.2033del, p.(Gly678Alafs*10), heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.33505500del" "" "pathogenic" "ACMG" "0000827900" "0" "90" "7" "33384193" "33384194" "del" "0" "00000" "BBS9_000182" "g.33384193_33384194del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS9 C.1141_1142del, p.Q381Sfs*5" "different transcript, NM_001348042.2(BBS9):c.1141_1142del, p.(Gln381Serfs*5), heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.33344581_33344582del" "" "pathogenic" "ACMG" "0000828553" "1" "70" "7" "33407474" "33407474" "subst" "0" "00000" "BBS9_000026" "g.33407474C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS9, c.1789C>T, p.Gln597*, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.33367862C>T" "" "likely pathogenic" "ACMG" "0000828554" "2" "70" "7" "33573616" "33573616" "subst" "0" "00000" "BBS9_000185" "g.33573616C>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS9, c.2349C>A, p.Cys783*, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.33534004C>A" "" "likely pathogenic" "ACMG" "0000830044" "1" "90" "7" "33312648" "33312648" "subst" "0" "00000" "BBS9_000188" "g.33312648G>A" "" "{PMID:Mary-2019:30614526}" "" "c.[727G>A];[1792C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830045" "2" "90" "7" "33423280" "33423280" "subst" "0" "00000" "BBS9_000062" "g.33423280C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[727G>A];[1792C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830046" "1" "90" "7" "33192311" "33192311" "subst" "0" "00000" "BBS9_000186" "g.33192311A>G" "" "{PMID:Mary-2019:30614526}" "" "c.[113-2A>G];[263+4A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830047" "2" "90" "7" "33192467" "33192467" "subst" "4.06385E-6" "00000" "BBS9_000187" "g.33192467A>G" "" "{PMID:Mary-2019:30614526}" "" "c.[113-2A>G];[263+4A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000851601" "0" "70" "7" "33169655" "33169655" "subst" "0" "02327" "BBS9_000189" "g.33169655T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851602" "0" "90" "7" "33376235" "33376235" "subst" "0" "02327" "BBS9_000176" "g.33376235G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860765" "0" "50" "7" "33644805" "33644805" "subst" "0" "01804" "BBS9_000190" "g.33644805A>G" "" "" "" "BBS9(NM_001033604.1):c.2528-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871350" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Khan 2016:26846096}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871351" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Khan 2016:26846096}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871357" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Muzammal 2019:31294530}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871358" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Muzammal 2019:31294530}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871359" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Muzammal 2019:31294530}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871360" "3" "70" "7" "33195285" "33195285" "del" "0" "00000" "BBS9_000191" "g.33195285del" "" "{PMID:Muzammal 2019:31294530}" "" "BBS9 c.299delC (p.Ser100Leufs*24)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33155673del" "" "likely pathogenic (recessive)" "" "0000871366" "3" "70" "7" "33407474" "33407474" "subst" "0" "00000" "BBS9_000026" "g.33407474C>T" "" "{PMID:Maria 2016:27708425}" "" "BBS9 c.1789C>T , p.(Q597*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.33367862C>T" "" "likely pathogenic (recessive)" "" "0000871373" "0" "70" "7" "33312700" "33312700" "subst" "0" "00000" "BBS9_000125" "g.33312700T>G" "" "{PMID:Kim 2020:32037757}" "" "BBS9 c.779T>G [p.Val260Gly]" "heterozygous; no parental samples" "Unknown" "?" "" "0" "" "" "g.33273088T>G" "" "likely pathogenic (recessive)" "" "0000871374" "0" "70" "7" "33573686" "33573686" "subst" "0" "00000" "BBS9_000126" "g.33573686C>T" "" "{PMID:Kim 2020:32037757}" "" "BBS9 c.2419C>T [p.Gln807Ter]" "heterozygous; no parental samples" "Unknown" "?" "" "0" "" "" "g.33534074C>T" "" "likely pathogenic (recessive)" "" "0000871388" "11" "70" "2" "27706499" "27706499" "del" "0" "00000" "IFT172_000155" "g.27706499del" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.432delA, p.Lys144Asnfs*15" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27483632del" "" "likely pathogenic (recessive)" "" "0000871389" "3" "70" "2" "27702916" "27702916" "subst" "8.5443E-5" "00000" "IFT172_000117" "g.27702916G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.886C>T, p.Arg296Trp" "homozygous" "Unknown" "?" "" "0" "" "" "g.27480049G>A" "" "likely pathogenic (recessive)" "" "0000871390" "3" "70" "2" "27700177" "27700177" "subst" "0" "00000" "IFT172_000153" "g.27700177A>T" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.1232T>A, p.Ile411Asn" "homozygous" "Germline" "yes" "" "0" "" "" "g.27477310A>T" "" "likely pathogenic (recessive)" "" "0000871391" "3" "70" "2" "27700177" "27700177" "subst" "0" "00000" "IFT172_000153" "g.27700177A>T" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.1232T>A, p.Ile411Asn" "homozygous" "Unknown" "?" "" "0" "" "" "g.27477310A>T" "" "likely pathogenic (recessive)" "" "0000871392" "0" "70" "2" "27699528" "27699533" "del" "0" "00000" "IFT172_000152" "g.27699528_27699533del" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.1390_1395delGATATT, p.Asp464_Ile465del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.27476661_27476666del" "" "likely pathogenic (recessive)" "" "0000871393" "11" "70" "2" "27693820" "27693821" "dup" "0" "00000" "IFT172_000150" "g.27693820_27693821dup" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.1671_1672dupAG, p.Val558Glufs*12" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27470953_27470954dup" "" "likely pathogenic (recessive)" "" "0000871394" "21" "70" "2" "27684662" "27684662" "del" "0" "00000" "IFT172_000149" "g.27684662del" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.2158delC, p.Arg720Valfs*28" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27461795del" "" "likely pathogenic (recessive)" "" "0000871395" "21" "70" "2" "27682316" "27682316" "subst" "4.06138E-6" "00000" "IFT172_000148" "g.27682316G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.2716C>T, p.Gln906*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27459449G>A" "" "likely pathogenic (recessive)" "" "0000871396" "21" "70" "2" "27680505" "27680505" "subst" "0" "00000" "IFT172_000146" "g.27680505C>T" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.3228+1G>A, 50 splice site" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27457638C>T" "" "likely pathogenic (recessive)" "" "0000871397" "11" "70" "2" "27676295" "27676295" "subst" "8.12189E-6" "00000" "IFT172_000145" "g.27676295G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.3907C>T, p.Arg1303*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27453428G>A" "" "likely pathogenic (recessive)" "" "0000871398" "3" "70" "2" "27670411" "27670411" "subst" "1.21976E-5" "00000" "IFT172_000115" "g.27670411G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4630C>T, p.Arg1544Cys" "homozygous" "Germline" "yes" "" "0" "" "" "g.27447544G>A" "" "likely pathogenic (recessive)" "" "0000871399" "3" "70" "2" "27670411" "27670411" "subst" "1.21976E-5" "00000" "IFT172_000115" "g.27670411G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4630C>T, p.Arg1544Cys" "homozygous" "Germline" "yes" "" "0" "" "" "g.27447544G>A" "" "likely pathogenic (recessive)" "" "0000871400" "11" "70" "2" "27668307" "27668310" "del" "0" "00000" "IFT172_000073" "g.27668307_27668310del" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4925_4928delGAGA, p.Arg1642Lysfs*32" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27445440_27445443del" "" "likely pathogenic (recessive)" "" "0000871401" "11" "70" "2" "27668307" "27668310" "del" "0" "00000" "IFT172_000073" "g.27668307_27668310del" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4925_4928delGAGA, p.Arg1642Lysfs*32" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27445440_27445443del" "" "likely pathogenic (recessive)" "" "0000871402" "21" "70" "2" "27672429" "27672429" "subst" "0" "00000" "IFT172_000083" "g.27672429C>T" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4161G>A, p.Arg1387Serfs*7" "heterozygous; splicing consequence" "Germline" "yes" "" "0" "" "" "g.27449562C>T" "" "likely pathogenic (recessive)" "" "0000871403" "0" "70" "2" "27667370" "27667370" "subst" "1.2223E-5" "00000" "IFT172_000140" "g.27667370A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.5179T>C, p.Cys1727Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27444503A>G" "" "likely pathogenic (recessive)" "" "0000871404" "21" "70" "2" "27667370" "27667370" "subst" "1.2223E-5" "00000" "IFT172_000140" "g.27667370A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.5179T>C, p.Cys1727Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27444503A>G" "" "likely pathogenic (recessive)" "" "0000871405" "11" "70" "2" "27667370" "27667370" "subst" "1.2223E-5" "00000" "IFT172_000140" "g.27667370A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.5179T>C, p.Cys1727Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27444503A>G" "" "likely pathogenic (recessive)" "" "0000871406" "11" "70" "2" "27670434" "27670434" "subst" "0" "00000" "IFT172_000143" "g.27670434A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4607T>C, p.Leu1536Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27447567A>G" "" "likely pathogenic (recessive)" "" "0000871407" "11" "70" "2" "27670434" "27670434" "subst" "0" "00000" "IFT172_000143" "g.27670434A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4607T>C, p.Leu1536Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27447567A>G" "" "likely pathogenic (recessive)" "" "0000871408" "21" "70" "2" "27670411" "27670411" "subst" "1.21976E-5" "00000" "IFT172_000115" "g.27670411G>A" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.4630C>T, p.Arg1544Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27447544G>A" "" "likely pathogenic (recessive)" "" "0000871409" "21" "70" "2" "27667370" "27667370" "subst" "1.2223E-5" "00000" "IFT172_000140" "g.27667370A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.5179T>C, p.Cys1727Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27444503A>G" "" "likely pathogenic (recessive)" "" "0000871410" "21" "70" "2" "27667370" "27667370" "subst" "1.2223E-5" "00000" "IFT172_000140" "g.27667370A>G" "" "{PMID:Halbritter 2013:24140113}" "" "IFT172 c.5179T>C, p.Cys1727Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.27444503A>G" "" "likely pathogenic (recessive)" "" "0000880105" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; single carrier, all siblings wild type, but some overweight, the patient morbidly obese; heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880106" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880107" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880108" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000887865" "0" "30" "7" "33217151" "33217151" "subst" "0.000825176" "02330" "BBS9_000192" "g.33217151T>C" "" "" "" "BBS9(NM_001348038.3):c.117T>C (p.N39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887866" "0" "30" "7" "33376146" "33376146" "subst" "0.0013726" "02326" "BBS9_000109" "g.33376146C>T" "" "" "" "BBS9(NM_198428.2):c.1110C>T (p.N370=), BBS9(NM_198428.3):c.1110C>T (p.N370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887867" "0" "30" "7" "33573804" "33573804" "subst" "6.57252E-5" "02326" "BBS9_000080" "g.33573804A>G" "" "" "" "BBS9(NM_198428.3):c.2521+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912737" "0" "30" "7" "33195332" "33195332" "subst" "0.000197329" "02326" "BBS9_000193" "g.33195332C>T" "" "" "" "BBS9(NM_001348038.3):c.55+18C>T, BBS9(NM_198428.3):c.328+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912738" "0" "10" "7" "33545055" "33545055" "subst" "0.00169734" "02326" "BBS9_000114" "g.33545055G>A" "" "" "" "BBS9(NM_198428.3):c.2116-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912739" "0" "30" "7" "33545179" "33545179" "subst" "0.00187298" "02326" "BBS9_000196" "g.33545179G>A" "" "" "" "BBS9(NM_198428.3):c.2220G>A (p.L740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915791" "3" "70" "7" "0" "0" "" "0" "04436" "EZH2_000001" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(263+1_264-1)_(328+1_329-1)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916569" "1" "50" "7" "33217170" "33217170" "subst" "0" "04436" "BBS9_000194" "g.33217170A>C" "" "{PMID:Panneman 2023:36819107}" "" "c.409A>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916570" "2" "70" "7" "33407377" "33407377" "subst" "4.06296E-6" "04436" "BBS9_000195" "g.33407377A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1694-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000924713" "0" "30" "7" "33296960" "33296960" "subst" "0.00217872" "02326" "BBS9_000106" "g.33296960C>T" "" "" "" "BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948904" "0" "30" "7" "33312821" "33312821" "subst" "8.13815E-5" "02330" "BBS9_000197" "g.33312821T>G" "" "" "" "BBS9(NM_001348038.3):c.613+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948905" "0" "30" "7" "33392479" "33392479" "subst" "0.00376826" "01804" "BBS9_000054" "g.33392479C>A" "" "" "" "BBS9(NM_001033604.1):c.1441C>A (p.(Pro481Thr)), BBS9(NM_198428.3):c.1546C>A (p.P516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948906" "0" "50" "7" "33397518" "33397518" "subst" "0" "02325" "BBS9_000198" "g.33397518G>C" "" "" "" "BBS9(NM_198428.3):c.1604G>C (p.C535S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948907" "0" "50" "7" "33545253" "33545253" "subst" "7.74606E-5" "02325" "BBS9_000073" "g.33545253A>G" "" "" "" "BBS9(NM_198428.2):c.2294A>G (p.E765G), BBS9(NM_198428.3):c.2294A>G (p.E765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948908" "0" "30" "7" "33573630" "33573630" "subst" "0.000657815" "01804" "BBS9_000077" "g.33573630C>T" "" "" "" "BBS9(NM_001033604.1):c.2258C>T (p.(Ser753Phe)), BBS9(NM_198428.3):c.2363C>T (p.S788F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955383" "0" "70" "7" "33192463" "33192463" "subst" "1.62561E-5" "04333" "BBS9_000199" "g.33192463C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33152851C>T" "" "pathogenic (recessive)" "" "0000964570" "0" "30" "7" "33195332" "33195332" "subst" "0.000197329" "02330" "BBS9_000193" "g.33195332C>T" "" "" "" "BBS9(NM_001348038.3):c.55+18C>T, BBS9(NM_198428.3):c.328+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964571" "0" "90" "7" "33423280" "33423280" "subst" "0" "02326" "BBS9_000062" "g.33423280C>T" "" "" "" "BBS9(NM_001348038.2):c.1519C>T (p.R507*), BBS9(NM_198428.3):c.1792C>T (p.R598*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964572" "0" "50" "7" "33427698" "33427698" "subst" "2.84276E-5" "01804" "BBS9_000113" "g.33427698A>T" "" "" "" "BBS9(NM_001033604.1):c.1952A>T (p.(Asp651Val)), BBS9(NM_198428.3):c.2057A>T (p.D686V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964573" "0" "30" "7" "33644820" "33644820" "subst" "0.000614171" "02330" "BBS9_000200" "g.33644820C>A" "" "" "" "BBS9(NM_001348038.3):c.2373C>A (p.L791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977678" "0" "50" "7" "33312657" "33312657" "subst" "0.000142265" "01804" "BBS9_000123" "g.33312657C>T" "" "" "" "BBS9(NM_001348038.2):c.463C>T (p.L155F), BBS9(NM_198428.3):c.736C>T (p.(Leu246Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989986" "3" "90" "7" "33313517" "33313517" "subst" "4.07103E-6" "00006" "BBS9_000120" "g.33313517G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.33273905G>A" "" "pathogenic" "" "0001036342" "0" "30" "7" "33217083" "33217083" "del" "0" "01804" "BBS9_000037" "g.33217083del" "" "" "" "BBS9(NM_198428.3):c.329-7del, BBS9(NM_198428.3):c.329-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036343" "0" "30" "7" "33217083" "33217083" "dup" "0" "01804" "BBS9_000036" "g.33217083dup" "" "" "" "BBS9(NM_198428.3):c.329-7dup, BBS9(NM_198428.3):c.329-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036344" "0" "50" "7" "33312688" "33312688" "subst" "8.12935E-6" "01804" "BBS9_000202" "g.33312688C>G" "" "" "" "BBS9(NM_198428.3):c.767C>G (p.(Ser256Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036345" "0" "50" "7" "33427677" "33427677" "subst" "0" "01804" "BBS9_000203" "g.33427677G>T" "" "" "" "BBS9(NM_198428.3):c.2036G>T (p.(Arg679Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052641" "0" "50" "7" "33312676" "33312676" "subst" "0" "01804" "BBS9_000204" "g.33312676C>G" "" "" "" "BBS9(NM_198428.3):c.755C>G (p.(Ser252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052642" "0" "50" "7" "33312688" "33312688" "subst" "0.00012194" "01804" "BBS9_000205" "g.33312688C>T" "" "" "" "BBS9(NM_198428.3):c.767C>T (p.(Ser256Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052643" "0" "50" "7" "33376148" "33376148" "subst" "0.000154717" "01804" "BBS9_000048" "g.33376148T>C" "" "" "" "BBS9(NM_198428.3):c.1112T>C (p.V371A, p.(Val371Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BBS9 ## Count = 326 "{{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}}" "0000079478" "00024049" "90" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "12" "0000091167" "00024049" "70" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "8" "0000094920" "00024049" "90" "1789" "0" "1789" "0" "c.1789C>T" "r.spl?" "p.(Gln597*)" "17" "0000154079" "00024049" "70" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Asn254Ser)" "8" "0000154080" "00024049" "70" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Gly306Glu)" "9" "0000246650" "00024049" "50" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Glu753Val)" "" "0000247831" "00024049" "30" "2299" "-20" "2299" "-20" "c.2299-20A>C" "r.(=)" "p.(=)" "" "0000249545" "00024049" "30" "2521" "16" "2521" "16" "c.2521+16A>G" "r.(=)" "p.(=)" "" "0000250607" "00024049" "10" "2299" "-20" "2299" "-20" "c.2299-20A>C" "r.(=)" "p.(=)" "" "0000250877" "00024049" "10" "1648" "0" "1648" "0" "c.1648A>G" "r.(?)" "p.(Ile550Val)" "" "0000251098" "00024049" "10" "1849" "0" "1849" "0" "c.1849A>C" "r.(?)" "p.(Ile617Leu)" "" "0000251395" "00024049" "30" "113" "-11" "113" "-11" "c.113-11del" "r.(=)" "p.(=)" "" "0000252393" "00024049" "50" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Lys687Glu)" "" "0000252959" "00024049" "10" "2299" "-20" "2299" "-20" "c.2299-20A>C" "r.(=)" "p.(=)" "" "0000255935" "00024049" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Glu765Gly)" "" "0000258612" "00024049" "10" "1056" "0" "1056" "0" "c.1056T>A" "r.(?)" "p.(Gly352=)" "" "0000258613" "00024049" "50" "1112" "0" "1112" "0" "c.1112T>C" "r.(?)" "p.(Val371Ala)" "" "0000258614" "00024049" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000258615" "00024049" "10" "1694" "-4" "1694" "-4" "c.1694-4G>A" "r.spl?" "p.?" "" "0000258616" "00024049" "10" "1790" "-20" "1790" "-20" "c.1790-20C>G" "r.(=)" "p.(=)" "" "0000258617" "00024049" "50" "1799" "0" "1799" "0" "c.1799G>T" "r.(?)" "p.(Arg600Leu)" "" "0000258618" "00024049" "30" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "" "0000258619" "00024049" "10" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000258620" "00024049" "10" "2250" "0" "2250" "0" "c.2250T>C" "r.(?)" "p.(Ala750=)" "" "0000258621" "00024049" "10" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Ala774=)" "" "0000258622" "00024049" "50" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Ser788Phe)" "" "0000258623" "00024049" "10" "329" "-7" "329" "-7" "c.329-7dup" "r.(=)" "p.(=)" "" "0000258625" "00024049" "50" "58" "0" "58" "0" "c.58T>G" "r.(?)" "p.(Phe20Val)" "" "0000258626" "00024049" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Tyr207=)" "" "0000258627" "00024049" "50" "809" "0" "809" "0" "c.809G>C" "r.(?)" "p.(Cys270Ser)" "" "0000259238" "00024049" "10" "1329" "1606" "1329" "1606" "c.1329+1606C>T" "r.(=)" "p.(=)" "" "0000259239" "00024049" "10" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "" "0000259790" "00024049" "90" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626ArgfsTer22)" "" "0000261422" "00024049" "30" "113" "-14" "113" "-14" "c.113-14T>A" "r.(=)" "p.(=)" "" "0000261424" "00024049" "10" "113" "-14" "113" "-14" "c.113-14del" "r.(=)" "p.(=)" "" "0000261425" "00024049" "30" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Val416Met)" "" "0000261426" "00024049" "10" "1537" "238" "1537" "238" "c.1537+238T>C" "r.(=)" "p.(=)" "" "0000261427" "00024049" "10" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "" "0000261428" "00024049" "10" "1553" "-102" "1553" "-102" "c.1553-102G>A" "r.(=)" "p.(=)" "" "0000261429" "00024049" "10" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000261430" "00024049" "30" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Thr549Ile)" "" "0000261431" "00024049" "90" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626ArgfsTer22)" "" "0000261432" "00024049" "10" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000261433" "00024049" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Ter)" "" "0000261434" "00024049" "90" "2299" "-1" "2299" "-1" "c.2299-1G>A" "r.spl?" "p.?" "" "0000261435" "00024049" "10" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824Cys)" "" "0000261436" "00024049" "10" "2632" "9" "2632" "9" "c.2632+9C>A" "r.(=)" "p.(=)" "" "0000261437" "00024049" "10" "329" "-7" "329" "-7" "c.329-7del" "r.(=)" "p.(=)" "" "0000261438" "00024049" "10" "329" "-7" "329" "-7" "c.329-7T>C" "r.(=)" "p.(=)" "" "0000261439" "00024049" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Ter)" "" "0000263606" "00024049" "50" "1014" "0" "1014" "0" "c.1014G>T" "r.(?)" "p.(Leu338Phe)" "" "0000263607" "00024049" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(His339Tyr)" "" "0000263608" "00024049" "10" "1017" "-6" "1017" "-6" "c.1017-6T>C" "r.(=)" "p.(=)" "" "0000263609" "00024049" "10" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Val416Met)" "" "0000263610" "00024049" "10" "1275" "13" "1275" "13" "c.1275+13G>T" "r.(=)" "p.(=)" "" "0000263611" "00024049" "10" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "" "0000263612" "00024049" "10" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000263613" "00024049" "90" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598Ter)" "" "0000263614" "00024049" "50" "1846" "0" "1846" "0" "c.1846C>A" "r.(?)" "p.(Leu616Ile)" "" "0000263615" "00024049" "30" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "" "0000263616" "00024049" "50" "205" "0" "205" "0" "c.205C>A" "r.(?)" "p.(Leu69Ile)" "" "0000263617" "00024049" "10" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "0000263618" "00024049" "10" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000263619" "00024049" "30" "329" "-6" "329" "-6" "c.329-6C>T" "r.(=)" "p.(=)" "" "0000263620" "00024049" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Leu180=)" "" "0000337808" "00024049" "10" "-407" "0" "-407" "0" "c.-407C>G" "r.(?)" "p.(=)" "" "0000337809" "00024049" "10" "-12" "7" "-12" "7" "c.-12+7T>C" "r.(=)" "p.(=)" "" "0000337815" "00024049" "10" "1275" "13" "1275" "13" "c.1275+13G>T" "r.(=)" "p.(=)" "" "0000341453" "00024049" "10" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "" "0000342520" "00024049" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Ter)" "" "0000344418" "00024049" "50" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Cys535Tyr)" "" "0000347615" "00024049" "90" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626ArgfsTer22)" "" "0000348490" "00024049" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000350573" "00024049" "50" "1514" "0" "1514" "0" "c.1514T>C" "r.(?)" "p.(Val505Ala)" "" "0000352483" "00024049" "50" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Thr303Ser)" "" "0000352484" "00024049" "50" "2209" "0" "2209" "0" "c.2209C>G" "r.(?)" "p.(Leu737Val)" "" "0000358177" "00024049" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "3" "0000487544" "00024049" "90" "1329" "1738" "1329" "1738" "c.1329+1738C>T" "r.spl" "p.(=)" "12i" "0000531854" "00024049" "10" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Thr12Ala)" "" "0000531855" "00024049" "30" "113" "-8" "113" "-8" "c.113-8C>T" "r.(=)" "p.(=)" "" "0000531857" "00024049" "50" "150" "0" "150" "0" "c.150G>C" "r.(?)" "p.(Arg50Ser)" "" "0000531858" "00024049" "30" "328" "16" "328" "27" "c.328+16_328+27del" "r.(=)" "p.(=)" "" "0000531860" "00024049" "30" "329" "-6" "329" "-6" "c.329-6C>T" "r.(=)" "p.(=)" "" "0000531861" "00024049" "30" "329" "-5" "329" "-5" "c.329-5C>T" "r.spl?" "p.?" "" "0000531863" "00024049" "30" "329" "-2" "329" "-2" "c.329-2A>T" "r.spl?" "p.?" "" "0000531865" "00024049" "30" "329" "-1" "329" "-1" "c.329-1G>T" "r.spl?" "p.?" "" "0000531867" "00024049" "50" "330" "0" "330" "0" "c.330A>T" "r.(?)" "p.(Gly110=)" "" "0000531868" "00024049" "50" "442" "0" "442" "0" "c.442G>C" "r.(?)" "p.(Gly148Arg)" "" "0000531869" "00024049" "30" "443" "-8" "443" "-8" "c.443-8T>C" "r.(=)" "p.(=)" "" "0000531870" "00024049" "30" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Gly177=)" "" "0000531871" "00024049" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Ala185=)" "" "0000531872" "00024049" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Ala185=)" "" "0000531873" "00024049" "90" "597" "0" "597" "0" "c.597C>A" "r.(?)" "p.(Cys199Ter)" "" "0000531874" "00024049" "10" "618" "-18" "618" "-18" "c.618-18T>A" "r.(=)" "p.(=)" "" "0000531875" "00024049" "30" "1017" "-6" "1017" "-6" "c.1017-6T>C" "r.(=)" "p.(=)" "" "0000531876" "00024049" "10" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Asn370=)" "" "0000531879" "00024049" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "" "0000531880" "00024049" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "" "0000531882" "00024049" "90" "1468" "0" "1468" "0" "c.1468del" "r.(?)" "p.(Tyr490IlefsTer2)" "" "0000531883" "00024049" "30" "1648" "0" "1648" "0" "c.1648A>G" "r.(?)" "p.(Ile550Val)" "" "0000531886" "00024049" "10" "1694" "-6" "1694" "-6" "c.1694-6T>C" "r.(=)" "p.(=)" "" "0000531887" "00024049" "90" "1789" "1" "1789" "1" "c.1789+1G>C" "r.spl?" "p.?" "" "0000531889" "00024049" "50" "2057" "0" "2057" "0" "c.2057A>T" "r.(?)" "p.(Asp686Val)" "" "0000531890" "00024049" "50" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Lys687Glu)" "" "0000531891" "00024049" "10" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "0000531892" "00024049" "10" "2116" "-20" "2116" "-20" "c.2116-20G>A" "r.(=)" "p.(=)" "" "0000531893" "00024049" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Asp747=)" "" "0000531894" "00024049" "30" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Glu753Val)" "" "0000531895" "00024049" "30" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Gln764Arg)" "" "0000531896" "00024049" "50" "2299" "-1" "2299" "-1" "c.2299-1G>A" "r.spl?" "p.?" "" "0000531897" "00024049" "30" "2632" "9" "2632" "9" "c.2632+9C>A" "r.(=)" "p.(=)" "" "0000611049" "00024049" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "" "0000611050" "00024049" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Pro520Ser)" "" "0000611052" "00024049" "70" "2299" "-1" "2299" "-1" "c.2299-1G>A" "r.spl?" "p.?" "" "0000632302" "00024049" "70" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Trp322*)" "" "0000652290" "00024049" "70" "263" "0" "263" "0" "c.263C>A" "r.(?)" "p.(Ser88*)" "" "0000652291" "00024049" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "" "0000652292" "00024049" "50" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "0000652293" "00024049" "50" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Glu770Gly)" "" "0000652294" "00024049" "50" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Ser788Phe)" "" "0000652295" "00024049" "10" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824Cys)" "" "0000655823" "00024049" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Leu246Phe)" "" "0000655824" "00024049" "30" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Ile738=)" "" "0000678098" "00024049" "50" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Lys687Glu)" "" "0000678099" "00024049" "50" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Glu770Gly)" "" "0000684693" "00024049" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0000684720" "00024049" "70" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807*)" "" "0000685027" "00024049" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "" "0000710248" "00024049" "70" "1329" "1738" "1329" "1738" "c.1329+1738C>T" "r.spl" "p.?" "" "0000721434" "00024049" "90" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626ArgfsTer22)" "" "0000731556" "00024049" "50" "1255" "0" "1255" "0" "c.1255C>G" "r.(?)" "p.(Pro419Ala)" "" "0000731572" "00024049" "50" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Glu753Val)" "" "0000732442" "00024049" "90" "666" "0" "666" "0" "c.666T>A" "r.(?)" "p.(Thr222=)" "" "0000732496" "00024049" "90" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Ile738=)" "" "0000733323" "00024049" "70" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626Argfs*22)" "" "0000759581" "00024049" "90" "542" "0" "542" "0" "c.542C>G" "r.(?)" "p.(Pro181Arg)" "" "0000759704" "00024049" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "" "0000759995" "00024049" "50" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Ser788Phe)" "" "0000760020" "00024049" "50" "1967" "0" "1967" "0" "c.1967G>A" "r.(?)" "p.(Arg656Gln)" "" "0000764916" "00024049" "70" "1693" "1" "1693" "1" "c.1693+1G>A" "r.?" "p.?" "" "0000765540" "00024049" "90" "104" "0" "112" "4" "c.104_112+4del" "r.(?)" "p.Asn35*)" "" "0000765914" "00024049" "70" "263" "0" "263" "0" "c.263C>A" "r.(?)" "p.(Ser88Ter)" "" "0000792411" "00024049" "70" "1016" "4" "1016" "4" "c.1016+4del" "r.spl?" "p.?" "" "0000794879" "00024049" "70" "1433" "-1" "2115" "1" "c.(1432+1_1433-1)_(2115+1_2116-1)del" "r.(?)" "p.(Thr478Serfs*40)" "" "0000795041" "00024049" "90" "3000" "0" "3000" "0" "c.*336A>G" "r.(=)" "p.(=)" "23" "0000796174" "00024049" "70" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "8" "0000797946" "00024049" "70" "115" "0" "115" "0" "c.115A>G" "r.(?)" "p.(Lys39Glu)" "" "0000797947" "00024049" "70" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "" "0000798084" "00024049" "70" "1277" "0" "1280" "0" "c.1277_1280del" "r.(?)" "p.(Gln426Argfs*16)" "" "0000803136" "00024049" "50" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Ala96Gly)" "" "0000803137" "00024049" "90" "618" "-1" "618" "-1" "c.618-1G>T" "r.spl?" "p.?" "" "0000803138" "00024049" "30" "1198" "8" "1198" "8" "c.1198+8A>C" "r.(=)" "p.(=)" "" "0000803139" "00024049" "30" "1694" "-10" "1694" "-10" "c.1694-10T>C" "r.(=)" "p.(=)" "" "0000803140" "00024049" "10" "32619" "0" "32619" "0" "c.*29955C>T" "r.(=)" "p.(=)" "" "0000810886" "00024049" "10" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "13" "0000810910" "00024049" "50" "618" "-54" "618" "-54" "c.618-54T>G" "r.(=)" "p.(=)" "" "0000810959" "00024049" "70" "1789" "1" "1789" "1" "c.1789+1G>A" "r.spl?" "p.?" "17i" "0000810960" "00024049" "70" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598*)" "18" "0000810961" "00024049" "70" "2046" "0" "2047" "0" "c.2046_2047insC" "r.(?)" "p.(Arg683Glnfs*5)" "19" "0000810962" "00024049" "70" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "5" "0000810963" "00024049" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "10" "0000810964" "00024049" "70" "442" "1" "442" "1" "c.442+1G>C" "r.spl?" "p.?" "5i" "0000810965" "00024049" "70" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626Argfs*22)" "18" "0000810966" "00024049" "70" "1877" "0" "1880" "0" "c.1877_1880del" "r.(?)" "p.(Lys626Argfs*22)" "18" "0000810985" "00024049" "70" "618" "0" "702" "0" "c.618_702del" "r.618_702del" "p.?" "7" "0000810991" "00024049" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Gln399*)" "10" "0000811075" "00024049" "70" "2804" "0" "2804" "0" "c.2804G>A" "r.(=)" "p.(=)" "23" "0000811133" "00024049" "90" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Ile154Met)" "6" "0000811134" "00024049" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "8" "0000811135" "00024049" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "8" "0000811137" "00024049" "90" "242" "0" "242" "0" "c.242T>A" "r.(?)" "p.(Val81Glu)" "3" "0000811138" "00024049" "90" "703" "-1" "1016" "1" "c.(?_703-1)_(1016+1_?)del" "r.spl?" "p.?" "7i_9i" "0000811220" "00024049" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811229" "00024049" "70" "2434" "0" "2435" "0" "c.2434_2435del" "r.(?)" "p.(Ile812Hisfs*6)" "21" "0000811514" "00024049" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0000812984" "00024049" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Glu753Val)" "" "0000813081" "00024049" "70" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64*)" "3" "0000813082" "00024049" "70" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374*)" "10" "0000813157" "00024049" "90" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Thr549Ile)" "16" "0000813160" "00024049" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "19" "0000813161" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.S35X" "" "0000813162" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.G539D" "" "0000813163" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.P632FfsX7" "" "0000813164" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.L88R" "" "0000813165" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.N461KfsX10" "" "0000813224" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813226" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813228" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813230" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813276" "00024049" "70" "443" "-1116" "618" "-986" "c.(443-1675_443-1116)_(618-986_618-508)del" "r.442+3_704del" "p.G148_V234del" "" "0000813277" "00024049" "70" "443" "-1116" "618" "-986" "c.(443-1675_443-1116)_(618-986_618-508)del" "r.442+3_704del" "p.G148_V234del" "" "0000813278" "00024049" "70" "443" "-1116" "618" "-986" "c.(443-1675_443-1116)_(618-986_618-508)del" "r.442+3_704del" "p.G148_V234del" "" "0000813283" "00024049" "50" "1432" "47" "1432" "47" "c.1432+47T>A" "r.(=)" "p.(=)" "13i" "0000813290" "00024049" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Val371Ile)" "10" "0000813293" "00024049" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Val371Ile)" "10" "0000813307" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813308" "00024049" "50" "1432" "47" "1432" "47" "c.1432+47T>A" "r.(=)" "p.(=)" "13i" "0000813313" "00024049" "50" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "15" "0000813314" "00024049" "50" "1432" "47" "1432" "47" "c.1432+47T>A" "r.(=)" "p.(=)" "13i" "0000813320" "00024049" "50" "2522" "-33" "2522" "-33" "c.2522-33T>C" "r.(=)" "p.(=)" "21i" "0000813323" "00024049" "50" "1432" "47" "1432" "47" "c.1432+47T>A" "r.(=)" "p.(=)" "13i" "0000813328" "00024049" "50" "1693" "102" "1693" "102" "c.1693+102G>A" "r.(=)" "p.(=)" "16i" "0000813333" "00024049" "50" "1693" "102" "1693" "102" "c.1693+102G>A" "r.(=)" "p.(=)" "16i" "0000813912" "00024049" "90" "396" "0" "396" "0" "c.396G>C" "r.(?)" "p.(Gln132His)" "5" "0000813984" "00024049" "50" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "18" "0000814075" "00024049" "50" "3000" "0" "3000" "0" "c.*336A>G" "r.(=)" "p.(=)" "23" "0000814104" "00024049" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814167" "00024049" "70" "1606" "0" "1606" "0" "c.1606C>T" "r.(=)" "p.(=)" "16" "0000814184" "00024049" "70" "329" "0" "2298" "0" "c.329_2298del1970" "r.(?)" "p.?" "5_20" "0000814228" "00024049" "70" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "19" "0000814230" "00024049" "70" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Thr549Ile)" "16" "0000814245" "00024049" "70" "2336" "0" "2336" "0" "c.2336T>A" "r.(?)" "p.(Leu779Gln)" "21" "0000814556" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "21" "0000814557" "00024049" "90" "2520" "0" "2521" "0" "c.2520_2521dup" "r.(?)" "p.(Gly841Glufs*12)" "21" "0000814558" "00024049" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "21" "0000814559" "00024049" "90" "2520" "0" "2521" "0" "c.2520_2521dup" "r.(?)" "p.(Gly841Glufs*12)" "21" "0000814573" "00024049" "90" "1556" "0" "1556" "0" "c.1556T>G" "r.(?)" "p.(Ile519Ser)" "16" "0000814575" "00024049" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "23" "0000814586" "00024049" "70" "0" "0" "0" "0" "c.?" "r.(=)" "p.?" "23" "0000814672" "00024049" "90" "1536" "0" "1536" "0" "c.1536A>G" "r.(=)" "p.(=)" "14" "0000814674" "00024049" "90" "1536" "0" "1536" "0" "c.1536A>G" "r.(=)" "p.(=)" "14" "0000814676" "00024049" "90" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Gln597*)" "17" "0000815038" "00024049" "90" "1910" "1" "1910" "1" "c.1910+1G>T" "r.(?)" "p.?" "18" "0000815050" "00024049" "90" "263" "1" "263" "1" "c.263+1G>A" "r.776_777insATAA" "p.?" "3i" "0000816536" "00024049" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000816889" "00024049" "70" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Ala427=)" "" "0000817928" "00024049" "90" "1693" "1" "1693" "1" "c.1693+1G>A" "r.spl" "p.?" "" "0000818395" "00024049" "50" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824Cys)" "21" "0000818984" "00024049" "50" "0" "0" "0" "0" "c.-513_(112+1_113-1){2}" "r.?" "p.?" "" "0000819380" "00024049" "70" "263" "1" "263" "1" "c.263+1G>T" "r.spl" "p.(?)" "" "0000819381" "00024049" "70" "263" "1" "263" "1" "c.263+1G>T" "r.spl" "p.(?)" "" "0000819385" "00024049" "70" "1694" "-1" "1789" "1" "c.(1693+3_1694-1)_(1789+1_1790-1)del" "r.spl" "p.(?)" "" "0000819386" "00024049" "70" "1694" "-1" "1789" "1" "c.(1693+3_1694-1)_(1789+1_1790-1)del" "r.spl" "p.(?)" "" "0000819487" "00024049" "70" "1693" "1" "1693" "1" "c.1693+1G>A" "r.spl" "p.(?)" "" "0000822758" "00024049" "70" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Trp322*)" "" "0000824917" "00024049" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149*)" "6" "0000824918" "00024049" "90" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Leu25Cysfs*16)" "2" "0000824926" "00024049" "90" "263" "2" "263" "2" "c.263+2del" "r.spl" "p.?" "3i" "0000824927" "00024049" "90" "1198" "1" "1198" "1" "c.1198+1G>A" "r.spl" "p.?" "10i" "0000827112" "00024049" "90" "1693" "1" "1693" "1" "c.1693+1G>A" "r.spl?" "p.?" "16i" "0000827113" "00024049" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64*)" "3" "0000827115" "00024049" "90" "1789" "1" "1789" "1" "c.1789+1G>C" "r.spl?" "p.?" "17i" "0000827116" "00024049" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64*)" "3" "0000827119" "00024049" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "15" "0000827840" "00024049" "90" "8" "0" "8" "0" "c.8del" "r.(?)" "p.(Leu3TyrfsTer38)" "" "0000827851" "00024049" "90" "586" "0" "587" "0" "c.586_587del" "r.(?)" "p.(Val196LeufsTer10)" "" "0000827853" "00024049" "70" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000827854" "00024049" "50" "1227" "0" "1227" "0" "c.1227T>A" "r.(?)" "p.(Asp409Glu)" "" "0000827857" "00024049" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Cys104ValfsTer20)" "" "0000827895" "00024049" "90" "1277" "0" "1280" "0" "c.1277_1280del" "r.(?)" "p.(Gln426ArgfsTer16)" "" "0000827896" "00024049" "90" "2153" "0" "2153" "0" "c.2153del" "r.(?)" "p.(Gly718AlafsTer10)" "" "0000827900" "00024049" "90" "1276" "0" "1277" "0" "c.1276_1277del" "r.(?)" "p.(Gln426SerfsTer5)" "" "0000828553" "00024049" "70" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Gln597*)" "" "0000828554" "00024049" "70" "2349" "0" "2349" "0" "c.2349C>A" "r.(?)" "p.(Cys783*)" "" "0000830044" "00024049" "90" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Glu243Lys)" "8" "0000830045" "00024049" "90" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598*)" "18" "0000830046" "00024049" "90" "113" "-2" "113" "-2" "c.113-2A>G" "r.spl?" "p.?" "2i" "0000830047" "00024049" "90" "263" "4" "263" "4" "c.263+4A>G" "r.spl?" "p.?" "3i" "0000851601" "00024049" "70" "-12" "2" "-12" "2" "c.-12+2T>C" "r.spl?" "p.?" "" "0000851602" "00024049" "90" "1198" "1" "1198" "1" "c.1198+1G>A" "r.spl?" "p.?" "" "0000860765" "00024049" "50" "2633" "-2" "2633" "-2" "c.2633-2A>G" "r.spl?" "p.?" "" "0000871350" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871351" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871357" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871358" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871359" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871360" "00024049" "70" "299" "0" "299" "0" "c.299delC" "r.(?)" "p.(Ser100Leufs*24)" "4" "0000871366" "00024049" "70" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Gln597*)" "" "0000871373" "00024049" "70" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0000871374" "00024049" "70" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807*)" "" "0000871388" "00024049" "70" "432" "0" "432" "0" "c.432delA" "r.(?)" "p.(Lys144Asnfs*15)" "6" "0000871389" "00024049" "70" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296Trp)" "9" "0000871390" "00024049" "70" "1232" "0" "1232" "0" "c.1232T>A" "r.(?)" "p.(Ile411Asn)" "13" "0000871391" "00024049" "70" "1232" "0" "1232" "0" "c.1232T>A" "r.(?)" "p.(Ile411Asn)" "13" "0000871392" "00024049" "70" "1390" "0" "1395" "0" "c.1390_1395delGATATT" "r.(?)" "p.(Asp464_Ile465del)" "14" "0000871393" "00024049" "70" "1671" "0" "1672" "0" "c.1671_1672dupAG" "r.(?)" "p.(Val558Glufs*12)" "16" "0000871394" "00024049" "70" "2158" "0" "2158" "0" "c.2158delC" "r.(?)" "p.(Arg720Valfs*28)" "21" "0000871395" "00024049" "70" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Gln906*)" "25" "0000871396" "00024049" "70" "3228" "1" "3228" "1" "c.3228+1G>A" "r.(?)" "p.?" "29" "0000871397" "00024049" "70" "3907" "0" "3907" "0" "c.3907C>T" "r.(?)" "p.(Arg1303*)" "35" "0000871398" "00024049" "70" "4630" "0" "4630" "0" "c.4630C>T" "r.(?)" "p.(Arg1544Cys)" "42" "0000871399" "00024049" "70" "4630" "0" "4630" "0" "c.4630C>T" "r.(?)" "p.(Arg1544Cys)" "42" "0000871400" "00024049" "70" "4925" "0" "4928" "0" "c.4925_4928delGAGA" "r.(?)" "p.(Arg1642Lysfs*32)" "46" "0000871401" "00024049" "70" "4925" "0" "4928" "0" "c.4925_4928delGAGA" "r.(?)" "p.(Arg1642Lysfs*32)" "46" "0000871402" "00024049" "70" "4161" "0" "4161" "0" "c.4161G>A" "r.spl" "p.(Arg1387Serfs*7)" "38" "0000871403" "00024049" "70" "5179" "0" "5179" "0" "c.5179T>C" "r.(?)" "p.(Cys1727Arg)" "48" "0000871404" "00024049" "70" "5179" "0" "5179" "0" "c.5179T>C" "r.(?)" "p.(Cys1727Arg)" "48" "0000871405" "00024049" "70" "5179" "0" "5179" "0" "c.5179T>C" "r.(?)" "p.(Cys1727Arg)" "48" "0000871406" "00024049" "70" "4607" "0" "4607" "0" "c.4607T>C" "r.(?)" "p.(Leu1536Pro)" "42" "0000871407" "00024049" "70" "4607" "0" "4607" "0" "c.4607T>C" "r.(?)" "p.(Leu1536Pro)" "42" "0000871408" "00024049" "70" "4630" "0" "4630" "0" "c.4630C>T" "r.(?)" "p.(Arg1544Cys)" "42" "0000871409" "00024049" "70" "5179" "0" "5179" "0" "c.5179T>C" "r.(?)" "p.(Cys1727Arg)" "48" "0000871410" "00024049" "70" "5179" "0" "5179" "0" "c.5179T>C" "r.(?)" "p.(Cys1727Arg)" "48" "0000880105" "00024049" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880106" "00024049" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880107" "00024049" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880108" "00024049" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000887865" "00024049" "30" "390" "0" "390" "0" "c.390T>C" "r.(?)" "p.(Asn130=)" "" "0000887866" "00024049" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Asn370=)" "" "0000887867" "00024049" "30" "2521" "16" "2521" "16" "c.2521+16A>G" "r.(=)" "p.(=)" "" "0000912737" "00024049" "30" "328" "18" "328" "18" "c.328+18C>T" "r.(=)" "p.(=)" "" "0000912738" "00024049" "10" "2116" "-20" "2116" "-20" "c.2116-20G>A" "r.(=)" "p.(=)" "" "0000912739" "00024049" "30" "2220" "0" "2220" "0" "c.2220G>A" "r.(?)" "p.(Leu740=)" "" "0000915791" "00024049" "70" "264" "-1" "328" "1" "c.(263+1_264-1)_(328+1_329-1)del" "r.?" "p.(Gly89Asnfs*4)" "" "0000916569" "00024049" "50" "409" "0" "409" "0" "c.409A>C" "r.(?)" "p.(Asn137His)" "5" "0000916570" "00024049" "70" "1694" "-2" "1694" "-2" "c.1694-2A>G" "r.spl?" "p.(?)" "16i" "0000924713" "00024049" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Ala185=)" "" "0000948904" "00024049" "30" "886" "14" "886" "14" "c.886+14T>G" "r.(=)" "p.(=)" "" "0000948905" "00024049" "30" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "" "0000948906" "00024049" "50" "1604" "0" "1604" "0" "c.1604G>C" "r.(?)" "p.(Cys535Ser)" "" "0000948907" "00024049" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Glu765Gly)" "" "0000948908" "00024049" "30" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Ser788Phe)" "" "0000955383" "00024049" "70" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "3" "0000964570" "00024049" "30" "328" "18" "328" "18" "c.328+18C>T" "r.(=)" "p.(=)" "" "0000964571" "00024049" "90" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598Ter)" "" "0000964572" "00024049" "50" "2057" "0" "2057" "0" "c.2057A>T" "r.(?)" "p.(Asp686Val)" "" "0000964573" "00024049" "30" "2646" "0" "2646" "0" "c.2646C>A" "r.(?)" "p.(=)" "" "0000977678" "00024049" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Leu246Phe)" "" "0000989986" "00024049" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Trp322Ter)" "" "0001036342" "00024049" "30" "329" "-7" "329" "-7" "c.329-7del" "r.(=)" "p.(=)" "" "0001036343" "00024049" "30" "329" "-7" "329" "-7" "c.329-7dup" "r.(=)" "p.(=)" "" "0001036344" "00024049" "50" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ser256Trp)" "" "0001036345" "00024049" "50" "2036" "0" "2036" "0" "c.2036G>T" "r.(?)" "p.(Arg679Leu)" "" "0001052641" "00024049" "50" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Cys)" "" "0001052642" "00024049" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Ser256Leu)" "" "0001052643" "00024049" "50" "1112" "0" "1112" "0" "c.1112T>C" "r.(?)" "p.(Val371Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 184 "{{screeningid}}" "{{variantid}}" "0000000076" "0000813160" "0000050498" "0000079478" "0000059911" "0000091167" "0000063964" "0000094920" "0000095513" "0000154079" "0000095513" "0000154080" "0000153384" "0000352483" "0000153385" "0000352484" "0000156255" "0000358177" "0000241534" "0000487544" "0000277474" "0000632302" "0000295601" "0000652290" "0000295602" "0000652291" "0000295603" "0000652292" "0000295604" "0000652293" "0000295605" "0000652294" "0000295606" "0000652295" "0000309820" "0000684693" "0000309820" "0000684720" "0000310116" "0000685027" "0000326656" "0000710248" "0000333766" "0000731556" "0000333766" "0000731572" "0000334586" "0000732442" "0000334586" "0000732496" "0000335314" "0000733323" "0000359950" "0000759581" "0000360038" "0000759704" "0000360192" "0000759995" "0000360200" "0000760020" "0000364154" "0000764916" "0000364665" "0000765540" "0000364972" "0000765914" "0000379270" "0000792411" "0000379270" "0000794879" "0000381572" "0000795041" "0000382385" "0000796174" "0000383709" "0000797946" "0000383710" "0000797947" "0000383817" "0000798084" "0000384298" "0000810886" "0000384307" "0000810910" "0000384342" "0000810959" "0000384343" "0000810960" "0000384344" "0000810961" "0000384345" "0000810962" "0000384346" "0000810963" "0000384347" "0000810964" "0000384347" "0000810965" "0000384348" "0000810966" "0000384366" "0000810985" "0000384372" "0000810991" "0000384430" "0000811075" "0000384469" "0000811133" "0000384470" "0000811134" "0000384470" "0000811135" "0000384471" "0000811137" "0000384472" "0000811138" "0000384518" "0000811220" "0000384522" "0000811229" "0000384746" "0000811514" "0000385829" "0000812984" "0000385910" "0000813081" "0000385910" "0000813082" "0000385954" "0000813157" "0000385955" "0000813161" "0000385956" "0000813162" "0000385956" "0000813163" "0000385957" "0000813164" "0000385957" "0000813165" "0000386006" "0000813224" "0000386007" "0000813226" "0000386008" "0000813228" "0000386009" "0000813230" "0000386041" "0000813276" "0000386042" "0000813277" "0000386043" "0000813278" "0000386045" "0000813283" "0000386049" "0000813290" "0000386050" "0000813293" "0000386058" "0000813307" "0000386058" "0000813308" "0000386059" "0000813313" "0000386059" "0000813314" "0000386061" "0000813320" "0000386062" "0000813323" "0000386064" "0000813328" "0000386065" "0000813333" "0000386409" "0000813912" "0000386459" "0000813984" "0000386515" "0000814075" "0000386536" "0000814104" "0000386572" "0000814167" "0000386584" "0000814184" "0000386605" "0000814228" "0000386605" "0000814230" "0000386613" "0000814245" "0000386809" "0000814556" "0000386809" "0000814557" "0000386810" "0000814558" "0000386810" "0000814559" "0000386819" "0000814573" "0000386820" "0000814575" "0000386831" "0000814586" "0000386872" "0000814672" "0000386873" "0000814674" "0000386874" "0000814676" "0000387165" "0000815038" "0000387175" "0000815050" "0000388097" "0000816536" "0000388357" "0000816889" "0000389135" "0000817928" "0000389380" "0000818395" "0000389749" "0000818984" "0000390035" "0000819380" "0000390036" "0000819381" "0000390040" "0000819385" "0000390041" "0000819386" "0000390142" "0000819487" "0000392458" "0000822758" "0000394023" "0000824917" "0000394023" "0000824926" "0000394024" "0000824918" "0000394024" "0000824927" "0000395717" "0000827112" "0000395717" "0000827113" "0000395719" "0000827115" "0000395719" "0000827116" "0000395721" "0000827119" "0000396271" "0000827840" "0000396271" "0000827895" "0000396282" "0000827851" "0000396282" "0000827896" "0000396284" "0000827853" "0000396285" "0000827854" "0000396288" "0000827857" "0000396288" "0000827900" "0000396854" "0000828553" "0000396854" "0000828554" "0000397834" "0000830044" "0000397834" "0000830045" "0000397836" "0000830046" "0000397836" "0000830047" "0000413805" "0000871350" "0000413806" "0000871351" "0000413812" "0000871357" "0000413813" "0000871358" "0000413814" "0000871359" "0000413815" "0000871360" "0000413821" "0000871366" "0000413826" "0000871373" "0000413826" "0000871374" "0000413841" "0000871388" "0000413841" "0000871402" "0000413842" "0000871389" "0000413843" "0000871390" "0000413844" "0000871391" "0000413845" "0000871392" "0000413845" "0000871403" "0000413846" "0000871393" "0000413846" "0000871404" "0000413847" "0000871394" "0000413847" "0000871405" "0000413848" "0000871395" "0000413848" "0000871406" "0000413849" "0000871396" "0000413849" "0000871407" "0000413850" "0000871397" "0000413850" "0000871408" "0000413851" "0000871398" "0000413852" "0000871399" "0000413853" "0000871400" "0000413853" "0000871409" "0000413854" "0000871401" "0000413854" "0000871410" "0000419918" "0000880105" "0000419919" "0000880106" "0000419920" "0000880107" "0000419921" "0000880108" "0000430902" "0000915791" "0000431426" "0000916569" "0000431426" "0000916570" "0000446946" "0000955383" "0000455017" "0000989986"