### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS12) # 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}}" "BBS12" "Bardet-Biedl syndrome 12" "4" "q27" "unknown" "NG_021203.1" "UD_132118880689" "" "https://www.LOVD.nl/BBS12" "" "1" "26648" "166379" "610683" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/BBS12_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2012-03-28 00:00:00" "00006" "2017-01-31 22:55:28" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000148" "BBS12" "Bardet-Biedl syndrome 12, transcript variant 1" "001" "NM_001178007.1" "" "NP_001171478.1" "" "" "" "-381" "3051" "2133" "123653857" "123666098" "00002" "2012-05-11 13:12:15" "" "" "00025744" "BBS12" "transcript variant 2" "002" "NM_152618.2" "" "NP_689831.2" "" "" "" "-193" "3051" "2133" "123653857" "123666098" "03840" "2022-10-04 12:37:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "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" "04375" "BBS12" "Bardet-Biedl syndrome, type 12 (BBS-12)" "AR" "615989" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BBS12" "00139" "BBS12" "04375" ## Individuals ## Do not remove or alter this header ## ## Count = 147 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00034032" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00034033" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00100116" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61274" "00293533" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293534" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00332219" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB42" "00333356" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat16" "00333358" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00335086" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "706Z" "00335332" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat96" "00358967" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71315" "00359027" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "10001098" "00379370" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00379371" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00379372" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00382487" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "349" "00382488" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "350" "00382803" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" "" "00383069" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383100" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383140" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383151" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383271" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383272" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383273" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383274" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383275" "" "" "" "5" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "Gypsy" "" "00383276" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383277" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383278" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383279" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383280" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "white" "" "00383300" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "F" "" "" "" "0" "" "" "" "" "00383301" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383302" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383318" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383319" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383324" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00383325" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00383326" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00383327" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00383328" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00383655" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "F" "" "" "" "0" "" "" "" "4" "00383657" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "F" "" "" "" "0" "" "" "" "6" "00383660" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "F" "" "" "" "0" "" "" "" "9" "00383840" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00384605" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "F" "no" "Lebanon" "" "0" "" "" "" "FC51: II.2" "00384701" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384702" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384703" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384714" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Turkish" "" "00384716" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "South African Black" "" "00384717" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "South African Black" "" "00384718" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "South African Black" "" "00384719" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "South African Black" "" "00384720" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "South African Black" "" "00384726" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Egyptian" "" "00384727" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Pakistani" "" "00384728" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "West African" "" "00384732" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Canadian Native Indian (Dene)" "" "00384733" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Canadian Native Indian (Dene)" "" "00384734" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Canadian Native Indian (Dene)" "" "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" "" "00384834" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385156" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "41" "00385181" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385186" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385222" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "Tunisian" "" "00385262" "" "" "" "1" "" "00000" "{PMID:Schaefer-2011:21044901}" "" "" "" "France" "" "0" "" "" "french" "" "00385313" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Ghanian" "" "00385314" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "yes" "" "" "0" "" "" "Dene" "" "00385315" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "novel, No principal mutations." "" "" "" "" "0" "" "" "Grenadian" "" "00385316" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "novel, No principal mutations." "" "" "" "" "0" "" "" "Grenadian" "" "00385326" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "English/Irish/Scottish" "" "00385332" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "" "" "" "" "0" "" "" "white" "" "00385362" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "" "00385365" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "" "yes" "" "" "0" "" "" "Somalian" "" "00385374" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "South African Black" "" "00385375" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "Danish/Dutch/Norwegian" "" "00385376" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "South African Black" "" "00385377" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "El-Salvadorian" "" "00385378" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "white" "" "00385379" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "white" "" "00385380" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "white" "" "00385381" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "French" "" "00385382" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385383" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385389" "" "" "" "1" "" "00000" "{PMID:Dulfer-2010:20827784}" "" "M" "" "" "" "0" "" "" "French" "" "00385390" "" "" "" "1" "" "00000" "{PMID:Dulfer-2010:20827784}" "" "M" "" "" "" "0" "" "" "French" "" "00385569" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR248(A2843)-05" "00385604" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "" "A3227-II1" "00385629" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "M333" "00385630" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "B63" "00385631" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "B179" "00385632" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "FRPN65a" "00385633" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "FRPN15a" "00385634" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "GBB4" "00385940" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Southern" "" "00385941" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Southern" "" "00385942" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "" "" "" "0" "" "" "Southern" "" "00387486" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387487" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387488" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "" "Spain" "" "0" "" "" "Spanish" "" "00387489" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "yes" "Spain" "" "0" "" "" "Spanish" "" "00387490" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a" "F" "" "Spain" "" "0" "" "" "Spanish" "" "00387491" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387492" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387493" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "yes" "Spain" "" "0" "" "" "Spanish" "" "00387578" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387579" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00388302" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "F" "" "China" "" "0" "" "" "" "P05" "00388796" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 41, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "80" "00388846" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 58, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "130" "00388850" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 59, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "134" "00393674" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "yes" "" "" "0" "" "" "" "" "00393968" "" "" "" "1" "" "00000" "{PMID:Strong-2020:33369054}" "" "F" "" "" "" "0" "" "" "" "" "00395024" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K21" "00395030" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K41" "00395032" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K46" "00395040" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K105" "00395615" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3077" "00396613" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus ultra sound at 26 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396615" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 18 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396617" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus" "M" "" "France" "" "0" "" "" "" "" "00396619" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus" "?" "" "France" "" "0" "" "" "" "" "00396621" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 32 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396623" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 24 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396625" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 21 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396627" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 24 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00399795" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "368" "00399796" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "655" "00412552" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F05" "M" "yes" "" "" "0" "" "" "Pakistani" "F05_V:2" "00412553" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F05" "F" "yes" "" "" "0" "" "" "Pakistani" "F05_V:4" "00417514" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG2, individual a" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG2a" "00417515" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG2, individual b" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG2b" "00417516" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG3, individual a" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG3a" "00417517" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG3, individual b" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG3b" "00417518" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG3, individual c" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG3c" "00417519" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG3, individual d" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG3d" "00417831" "" "" "" "1" "" "00000" "{PMID:Kim 2010:20671153}" "" "?" "" "" "" "0" "" "" "" "AR316" "00418687" "" "" "" "1" "" "00000" "{PMID:Pawlik 2009:20648243}" "parents first-degree cousins, family MR-10, individual IV-2" "M" "yes" "Pakistan" "" "0" "" "" "" "II-2" "00418688" "" "" "" "1" "" "00000" "{PMID:Pawlik 2009:20648243}" "parents first-degree cousins, family MR-10, individual IV-3" "F" "yes" "Pakistan" "" "0" "" "" "" "II-3" "00418689" "" "" "" "1" "" "00000" "{PMID:Pawlik 2009:20648243}" "parents first-degree cousins, family MR-10, individual IV-9" "F" "yes" "Pakistan" "" "0" "" "" "" "II-9" "00418691" "" "" "" "1" "" "00000" "{PMID:Nikkhah 2017:29633607}" "parents first-degree cousin" "F" "yes" "Iran" "" "0" "" "" "Iranian" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 149 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00034032" "04212" "00034033" "04212" "00100116" "04214" "00293533" "00198" "00293534" "00198" "00299641" "04214" "00332219" "04214" "00333356" "04214" "00333358" "04214" "00335086" "00198" "00335332" "04214" "00358967" "04214" "00359027" "04214" "00379370" "04214" "00379371" "04214" "00379372" "04214" "00382487" "04214" "00382488" "04214" "00382803" "04214" "00383069" "04214" "00383100" "04214" "00383140" "04214" "00383151" "04214" "00383271" "04214" "00383272" "04214" "00383273" "04214" "00383274" "04214" "00383275" "04214" "00383276" "04214" "00383277" "04214" "00383278" "04214" "00383279" "04214" "00383280" "04214" "00383300" "04214" "00383301" "04214" "00383302" "04214" "00383318" "04214" "00383319" "04214" "00383324" "04214" "00383325" "04214" "00383326" "04214" "00383327" "04214" "00383328" "04214" "00383655" "04214" "00383657" "04214" "00383660" "04214" "00383840" "04214" "00384605" "04214" "00384701" "04214" "00384702" "04214" "00384703" "04214" "00384714" "04214" "00384716" "04214" "00384717" "04214" "00384718" "04214" "00384719" "04214" "00384720" "04214" "00384726" "04214" "00384727" "04214" "00384728" "04214" "00384732" "04214" "00384733" "04214" "00384734" "04214" "00384832" "04214" "00384833" "04214" "00384834" "04214" "00385156" "04214" "00385181" "04214" "00385186" "04214" "00385222" "04214" "00385262" "04214" "00385313" "04214" "00385314" "04214" "00385315" "04214" "00385316" "04214" "00385326" "04214" "00385332" "04214" "00385362" "04214" "00385365" "04214" "00385374" "04214" "00385375" "04214" "00385376" "04214" "00385377" "04214" "00385378" "04214" "00385379" "04214" "00385380" "04214" "00385381" "04214" "00385382" "04214" "00385383" "04214" "00385389" "04214" "00385390" "04214" "00385569" "04214" "00385604" "04214" "00385629" "04214" "00385630" "04214" "00385631" "04214" "00385632" "04214" "00385633" "04214" "00385634" "04214" "00385940" "04214" "00385941" "04214" "00385942" "04214" "00387486" "04214" "00387487" "04214" "00387488" "04214" "00387489" "04214" "00387490" "04214" "00387491" "04214" "00387492" "04214" "00387493" "04214" "00387578" "04214" "00387579" "04214" "00388302" "04214" "00388796" "04214" "00388846" "04214" "00388850" "04214" "00393674" "04214" "00393968" "04214" "00395024" "04214" "00395030" "04214" "00395032" "04214" "00395040" "04214" "00395615" "04214" "00396613" "04214" "00396615" "04214" "00396617" "04214" "00396619" "04214" "00396621" "04214" "00396623" "04214" "00396625" "04214" "00396627" "04214" "00399795" "06892" "00399796" "06892" "00412552" "04214" "00412553" "04214" "00417514" "04212" "00417515" "04212" "00417516" "04212" "00417517" "04212" "00417518" "04212" "00417519" "04212" "00417831" "04212" "00418687" "04212" "00418688" "04212" "00418689" "04212" "00418691" "04212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 04212, 04214, 04375, 05330, 05378, 06892 ## Count = 142 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027427" "04212" "00034032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027428" "04212" "00034033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078353" "04214" "00100116" "01769" "Familial, autosomal recessive" "" "RP, deafness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000250406" "04214" "00332219" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251543" "04214" "00333356" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251545" "04214" "00333358" "00000" "Familial, X-linked recessive" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252801" "00198" "00335086" "00000" "Unknown" "" "Bardet Biedl-like syndrome; 16y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253046" "04214" "00335332" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254265" "04214" "00358967" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254324" "04214" "00359027" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000273243" "04214" "00379370" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273244" "04214" "00379371" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273245" "04214" "00379372" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000276336" "04214" "00382487" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276337" "04214" "00382488" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276659" "04214" "00382803" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000276859" "04214" "00383069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276890" "04214" "00383100" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276930" "04214" "00383140" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276941" "04214" "00383151" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000277058" "04214" "00383271" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277059" "04214" "00383272" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277060" "04214" "00383273" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277061" "04214" "00383274" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277062" "04214" "00383275" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277063" "04214" "00383276" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277064" "04214" "00383277" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277065" "04214" "00383278" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277066" "04214" "00383279" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277067" "04214" "00383280" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277085" "04214" "00383300" "00000" "Familial, autosomal recessive" "19y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277086" "04214" "00383301" "00000" "Familial, autosomal recessive" "1y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277087" "04214" "00383302" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277103" "04214" "00383318" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277104" "04214" "00383319" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277109" "04214" "00383324" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, mental delay, polydactyly (left-foot)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277110" "04214" "00383325" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, mental delay, polydactyly" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277111" "04214" "00383326" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, mental delay, polydactyly" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277112" "04214" "00383327" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277113" "04214" "00383328" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277440" "04214" "00383655" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277442" "04214" "00383657" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277445" "04214" "00383660" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277625" "04214" "00383840" "00000" "Familial, autosomal recessive" "22y" "BCVA OD-OS: 20/50-20/60" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "0000278395" "04214" "00384605" "00000" "Familial, autosomal recessive" "16y" "Visual acuity: 20/100–20/1" "11y" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278484" "04214" "00384701" "00000" "Familial, autosomal recessive" "4y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278485" "04214" "00384702" "00000" "Familial, autosomal recessive" "18y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278486" "04214" "00384703" "00000" "Familial, autosomal recessive" "13y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278497" "04214" "00384714" "00000" "Familial, autosomal recessive" "6y" "digit anomaly, moderate cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278499" "04214" "00384716" "00000" "Familial, autosomal recessive" "4y" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278500" "04214" "00384717" "00000" "Familial, autosomal recessive" "" "weight anomalies, digit anomaly, moderate cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278501" "04214" "00384718" "00000" "Familial, autosomal recessive" "5y11m" "weight anomalies, digit anomaly, severe cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278502" "04214" "00384719" "00000" "Familial, autosomal recessive" "12y10m" "weight anomalies, digit anomaly, moderate cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278503" "04214" "00384720" "00000" "Familial, autosomal recessive" "18y" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278509" "04214" "00384726" "00000" "Familial, autosomal recessive" "" "phenotypes overlapping with MKKS and ALMS (non-alcoholic, steatohepatitis, gynaecomasty, asthma, cryptorchidism, scoliosis, osteopenia, gum disease and endocrine anomalies)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278510" "04214" "00384727" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "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)" "" "0000278515" "04214" "00384732" "00000" "Familial, autosomal recessive" "4y" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278516" "04214" "00384733" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278517" "04214" "00384734" "00000" "Familial, autosomal recessive" "15y8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "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)" "" "0000278617" "04214" "00384834" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278952" "04214" "00385156" "00000" "Familial, autosomal recessive" "8y" "HP:0000556 Retinal dystrophy; HP:0010442 Polydactyly; HP:0001249 Intellectual disability; HP:0001513 Obesity; HP:0000750 Delayed speech and language development; HP:0000662 Nyctalopia; HP:0011003 Severe Myopia;" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278977" "04214" "00385181" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278982" "04214" "00385186" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279018" "04214" "00385222" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279058" "04214" "00385262" "00000" "Familial, autosomal recessive" "" "Polydactyly, kidney features, , hydrometrocolpos with bleeding, urogenital sinus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279109" "04214" "00385313" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279110" "04214" "00385314" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279111" "04214" "00385315" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279112" "04214" "00385316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279122" "04214" "00385326" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279128" "04214" "00385332" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279158" "04214" "00385362" "00000" "Familial, autosomal recessive" "6y" "weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Heart anomalyTeeth crowding, Dysmorphic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279161" "04214" "00385365" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279170" "04214" "00385374" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279171" "04214" "00385375" "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)" "" "0000279173" "04214" "00385377" "00000" "Familial, autosomal recessive" "18y6m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Hearing abn, DiabetesDepression, Emotional lability, Teeth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279174" "04214" "00385378" "00000" "Familial, autosomal recessive" "16y8m" "distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279175" "04214" "00385379" "00000" "Familial, autosomal recessive" "6y11m" "distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279176" "04214" "00385380" "00000" "Familial, autosomal recessive" "4y" "showedbilateraldiffuse cystic renal dysplasia with a relatively well-preserved nephrogenesis and an expanded medulla with dilated dysplastic collecting ducts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279177" "04214" "00385381" "00000" "Familial, autosomal recessive" "9y8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279178" "04214" "00385382" "00000" "Familial, autosomal recessive" "64y5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279179" "04214" "00385383" "00000" "Familial, autosomal recessive" "11y2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279185" "04214" "00385389" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279186" "04214" "00385390" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279364" "04214" "00385569" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, COM,SD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279399" "04214" "00385604" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279424" "04214" "00385629" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279425" "04214" "00385630" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279426" "04214" "00385631" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279427" "04214" "00385632" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279428" "04214" "00385633" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279429" "04214" "00385634" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279741" "04214" "00385940" "00000" "Familial, autosomal recessive" "" "obesity, rp, myopia, polydactyly feet, Multiple-renal-cyst, diabetes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279742" "04214" "00385941" "00000" "Familial, autosomal recessive" "" "obesity, rp, myopia, polydactyly feet, hypogonadisma, Behavioral-problem, hypothyroidism, growth-delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279743" "04214" "00385942" "00000" "Familial, autosomal recessive" "" "obesity, myopia, polydactyly hand, polydactyly feet,Short-stature, brachydactyly, syndactyly, increased-creatinine, glycosuria, mild-renal-cortical-atrophy-and-parenchymal-disease" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000281049" "04214" "00387486" "00000" "Familial, autosomal recessive" "53y" "retinal dystrophy, obesity, polydactyly, urogenital anomalies, Asthma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281050" "04214" "00387487" "00000" "Familial, autosomal recessive" "46y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, psychomotor delay, urogenital anomalies, cardiovascular abnormalities," "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281051" "04214" "00387488" "00000" "Familial, autosomal recessive" "37y" "retinal dystrophy, obesity, ?brachydactyly/syndactyly, cognitive impairment, urogenital anomalies," "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281052" "04214" "00387489" "00000" "Familial, autosomal recessive" "40y" "retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay," "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281053" "04214" "00387490" "00000" "Familial, autosomal recessive" "14y" "retinal dystrophy, obesity, polydactyly, urogenital anomalies, renal abnormalities, Sensorineural hearing loss" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281054" "04214" "00387491" "00000" "Familial, autosomal recessive" "50y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, psychomotor delay, renal abnormalities, Hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281055" "04214" "00387492" "00000" "Familial, autosomal recessive" "24y" "obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, psychomotor delay, urogenital anomalies, cardiovascular abnormalities, Asthma, cryptorchidism (MKKS)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281056" "04214" "00387493" "00000" "Familial, autosomal recessive" "49y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, psychomotor delay, renal abnormalities, cardiovascular abnormalities, Hearing loss, liver steatosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281141" "04214" "00387578" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281142" "04214" "00387579" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281854" "04214" "00388302" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282337" "04214" "00388796" "00000" "Familial, autosomal recessive" "34y" "age at genetic diagnosis mentioned" "" "" "" "26y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282387" "04214" "00388846" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "" "" "16y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282391" "04214" "00388850" "00000" "Familial, autosomal recessive" "22y" "age at genetic diagnosis mentioned" "" "" "" "20y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000286880" "04214" "00393674" "00000" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)" "" "0000287174" "04214" "00393968" "00000" "Unknown" "4y" "obesity, polydactyly, developmental delay, and kidney dysplasia was concerning for BBS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ciliopathies" "" "0000288224" "04214" "00395024" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288230" "04214" "00395030" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288232" "04214" "00395032" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288240" "04214" "00395040" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288813" "04214" "00395615" "00000" "Familial, autosomal recessive" "" "rod-cone dystrophy, polydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl-like syndrome" "" "0000289774" "04214" "00396613" "00000" "Familial, autosomal recessive" "" "Enlarged cysterna magna, kidney abnormality, renal cysts, cns anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289776" "04214" "00396615" "00000" "Familial, autosomal recessive" "" "Polysplenia, malrotation of the midgut, dysmorphy, polydactyly, postaxial, upper limbs, brachydactyly brachyphalangy, kidney abnormality, renal cysts, micropenis, abnormal genital system morphology" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289778" "04214" "00396617" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, urinary system abnormality, hydrometrocolpos, abnormal genital system morphology" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289780" "04214" "00396619" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, upper limbs, kidney abnormality, enlarged kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289782" "04214" "00396621" "00000" "Familial, autosomal recessive" "" "Cardiomegaly, single umbilical artery, overgrowth, ascites, polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, hydrometrocolpos, abnormal genital system morphology, hepatic anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289784" "04214" "00396623" "00000" "Familial, autosomal recessive" "" "kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289786" "04214" "00396625" "00000" "Familial, autosomal recessive" "" "kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289788" "04214" "00396627" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000304547" "04214" "00412552" "00000" "Familial, autosomal recessive" "20y" "body mass index: 33.8; retinal degeneration; no polydactyly; obesity: Yes; intellectual disability; hypogonadism; renal anomalies: left kidney: focal caliectasis in upper and interpolar region; additional features: elevated liver enzymes, hypodontia, speech disability, gynaecomastia" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl-like syndrome" "" "" "0000304548" "04214" "00412553" "00000" "Familial, autosomal recessive" "25y" "body mass index: 32.9; retinal degeneration; no polydactyly; obesity: Yes; intellectual disability: not determined; hypogonadism; renal anomalies: none; additional features: gynaecomastia, cerebral atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl-like syndrome" "" "" "0000308994" "04212" "00417514" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308995" "04212" "00417515" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308996" "04212" "00417516" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308997" "04212" "00417517" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308998" "04212" "00417518" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308999" "04212" "00417519" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309199" "04212" "00417831" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309986" "04212" "00418687" "00000" "Familial, autosomal recessive" "30y" "major criteria: rod-cone dystrophy: present (14 years); postaxial polydactyly: present; truncal obesity: absent; hypogonadism: absent; renal anomalies: absent; minor criteria: speech disorder/delay: absent; development delay: absent; behaviour: normal; ataxia/imbalance: absent; diabetes mellitus: absent; congenital heart defects: absent; liver disease: absent; hearing loss: absent; facial features: absent; situs inversus: absent; hirschsprung’s disease: absent; polyuria/polydipsia: absent; hypodontia: present; anosmia: abse" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309987" "04212" "00418688" "00000" "Familial, autosomal recessive" "27y" "major criteria: rod-cone dystrophy: present (15 years); postaxial polydactyly: present; truncal obesity: absent; hypogonadism: absent; renal anomalies: absent; minor criteria: speech disorder/delay: absent; development delay: absent; behaviour: normal; ataxia/imbalance: absent; diabetes mellitus: absent; congenital heart defects: absent; liver disease: absent; hearing loss: absent; facial features: absent; situs inversus: absent; hirschsprung’s disease: absent; polyuria/polydipsia: absent; hypodontia: present; anosmia: abse" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309988" "04212" "00418689" "00000" "Familial, autosomal recessive" "19y" "major criteria: rod-cone dystrophy: present (13 years); postaxial polydactyly: present; truncal obesity: absent; hypogonadism: absent; renal anomalies: absent; minor criteria: speech disorder/delay: absent; development delay: absent; behaviour: normal; ataxia/imbalance: absent; diabetes mellitus: absent; congenital heart defects: absent; liver disease: absent; hearing loss: absent; facial features: absent; situs inversus: absent; hirschsprung’s disease: absent; polyuria/polydipsia: absent; hypodontia: present; anosmia: abse" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309990" "04212" "00418691" "00000" "Familial, autosomal recessive" "13y" "polydactyly (specifically hexadactyly) of all four limbs, congenital heart disease, blindness and obesity; hypothyroidism; dental anomalies such as crowding of the teeth; urinalysis, complete blood count and renal function tests: normal; normal facies; no hearing impairment; normal maturation at puberty, normal secondary sexual characteristics such as pubic hair and regular menses; 1y: surgery for correcting the postaxial polydactyly of the four limbs; 2y: learned to walk and speak, but had difficulty in finding words, 8y: learning disability noted and complaint of night blindness; 10y: complete blindness; family history of death due to renal dysfunction in her maternal uncle, who had displayed similar phenotypic characteristics" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 147 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000034100" "00034032" "1" "00006" "00006" "2015-03-08 21:37:39" "00006" "2015-03-08 21:45:20" "SEQ" "DNA" "" "" "0000034101" "00034033" "1" "00006" "00006" "2015-03-08 21:49:42" "" "" "SEQ" "DNA" "" "" "0000100520" "00100116" "1" "01769" "01769" "2017-01-30 21:08:54" "" "" "SEQ" "DNA" "WBC" "" "0000294701" "00293533" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294702" "00293534" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000333439" "00332219" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000334581" "00333356" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334583" "00333358" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000336315" "00335086" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336561" "00335332" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000360204" "00358967" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360265" "00359027" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000380570" "00379370" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380571" "00379371" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380572" "00379372" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000383701" "00382487" "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" "0000383702" "00382488" "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" "0000384019" "00382803" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384293" "00383069" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384324" "00383100" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384364" "00383140" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384375" "00383151" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384495" "00383271" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384496" "00383272" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384497" "00383273" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384498" "00383274" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384499" "00383275" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000384500" "00383276" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384501" "00383277" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384502" "00383278" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384503" "00383279" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384504" "00383280" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384524" "00383300" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384525" "00383301" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384526" "00383302" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384542" "00383318" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384543" "00383319" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384548" "00383324" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384549" "00383325" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384550" "00383326" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384551" "00383327" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384552" "00383328" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384880" "00383655" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384882" "00383657" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384885" "00383660" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000385065" "00383840" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385832" "00384605" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000385927" "00384701" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385928" "00384702" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385929" "00384703" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385940" "00384714" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385942" "00384716" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385943" "00384717" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385944" "00384718" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385945" "00384719" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385946" "00384720" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385952" "00384726" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385953" "00384727" "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" "" "0000385958" "00384732" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385959" "00384733" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385960" "00384734" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "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" "" "0000386060" "00384834" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386385" "00385156" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "105 genes panel" "0000386410" "00385181" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386415" "00385186" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386451" "00385222" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386491" "00385262" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "" "0000386542" "00385313" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386543" "00385314" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386544" "00385315" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386545" "00385316" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386555" "00385326" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386561" "00385332" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386591" "00385362" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386594" "00385365" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386603" "00385374" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386604" "00385375" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386605" "00385376" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386606" "00385377" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386607" "00385378" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000386608" "00385379" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000386609" "00385380" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000386610" "00385381" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386611" "00385382" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386612" "00385383" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386618" "00385389" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386619" "00385390" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386798" "00385569" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386833" "00385604" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386858" "00385629" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386859" "00385630" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386860" "00385631" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386861" "00385632" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386862" "00385633" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386863" "00385634" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000387168" "00385940" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387169" "00385941" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387170" "00385942" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000388712" "00387486" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388713" "00387487" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388714" "00387488" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388715" "00387489" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388716" "00387490" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388717" "00387491" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388718" "00387492" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388719" "00387493" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388804" "00387578" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388805" "00387579" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000389543" "00388302" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes" "0000390039" "00388796" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390089" "00388846" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390093" "00388850" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000394922" "00393674" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395216" "00393968" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "" "0000396270" "00395024" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396276" "00395030" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396278" "00395032" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396286" "00395040" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396853" "00395615" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397856" "00396613" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397858" "00396615" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397860" "00396617" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397862" "00396619" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397864" "00396621" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397866" "00396623" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397868" "00396625" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397870" "00396627" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000401038" "00399795" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401039" "00399796" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413822" "00412552" "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" "0000413823" "00412553" "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" "0000418807" "00417514" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418808" "00417515" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418809" "00417516" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418810" "00417517" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418811" "00417518" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418812" "00417519" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419126" "00417831" "1" "00000" "03840" "2022-09-24 20:09:21" "" "" "?" "DNA" "" "" "0000419982" "00418687" "1" "00000" "03840" "2022-10-04 12:57:46" "" "" "SEQ" "DNA" "" "" "0000419983" "00418688" "1" "00000" "03840" "2022-10-04 12:57:46" "" "" "SEQ" "DNA" "" "" "0000419984" "00418689" "1" "00000" "03840" "2022-10-04 12:57:46" "" "" "SEQ" "DNA" "" "" "0000419986" "00418691" "1" "00000" "03840" "2022-10-04 13:16:41" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 215 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000034100" "BBS12" "0000034100" "CENPF" "0000034101" "BBS12" "0000034101" "CENPF" "0000100520" "BBS12" "0000300751" "ARHGEF18" "0000334581" "PRPF31" "0000334583" "RPGR" "0000336315" "BBS12" "0000336561" "BBS12" "0000380570" "ARL6" "0000380570" "BBS1" "0000380570" "BBS10" "0000380570" "BBS12" "0000380570" "BBS2" "0000380570" "BBS4" "0000380570" "BBS5" "0000380570" "BBS7" "0000380570" "BBS9" "0000380570" "MKKS" "0000380570" "TRIM32" "0000380570" "TTC8" "0000380571" "ARL6" "0000380571" "BBS1" "0000380571" "BBS10" "0000380571" "BBS12" "0000380571" "BBS2" "0000380571" "BBS4" "0000380571" "BBS5" "0000380571" "BBS7" "0000380571" "BBS9" "0000380571" "MKKS" "0000380571" "TRIM32" "0000380571" "TTC8" "0000380572" "ARL6" "0000380572" "BBS1" "0000380572" "BBS10" "0000380572" "BBS12" "0000380572" "BBS2" "0000380572" "BBS4" "0000380572" "BBS5" "0000380572" "BBS7" "0000380572" "BBS9" "0000380572" "MKKS" "0000380572" "TRIM32" "0000380572" "TTC8" "0000383701" "BBS12" "0000383702" "BBS12" "0000384019" "BBS12" "0000384019" "KCNV2" "0000384293" "BBS12" "0000384324" "BBS12" "0000384364" "BBS12" "0000384375" "BBS12" "0000384495" "BBS12" "0000384496" "BBS12" "0000384497" "ARL6" "0000384498" "BBS12" "0000384499" "BBS12" "0000384500" "BBS12" "0000384501" "BBS12" "0000384502" "BBS12" "0000384503" "BBS12" "0000384504" "BBS12" "0000384524" "BBS12" "0000384525" "BBS12" "0000384526" "BBS12" "0000384542" "BBS12" "0000384543" "BBS12" "0000384548" "BBS12" "0000384549" "BBS12" "0000384550" "BBS12" "0000384551" "BBS12" "0000384552" "BBS12" "0000384880" "BBS2" "0000384882" "BBS12" "0000384885" "BBS12" "0000385832" "BBS12" "0000385927" "BBS12" "0000385928" "BBS12" "0000385929" "BBS12" "0000385940" "BBS10" "0000385942" "BBS12" "0000385943" "BBS10" "0000385944" "BBS12" "0000385945" "BBS12" "0000385946" "BBS12" "0000385952" "BBS12" "0000385953" "BBS12" "0000385954" "BBS12" "0000385958" "BBS12" "0000385959" "BBS12" "0000385960" "BBS12" "0000386058" "BBS12" "0000386059" "BBS12" "0000386060" "BBS12" "0000386385" "BBS12" "0000386410" "BBS10" "0000386415" "BBS12" "0000386451" "BBS12" "0000386491" "BBS12" "0000386542" "BBS12" "0000386543" "BBS12" "0000386544" "BBS12" "0000386545" "BBS12" "0000386555" "BBS12" "0000386561" "BBS4" "0000386591" "BBS1" "0000386594" "BBS12" "0000386603" "BBS1" "0000386604" "BBS4" "0000386605" "BBS9" "0000386606" "BBS12" "0000386607" "BBS12" "0000386608" "BBS12" "0000386609" "BBS4" "0000386610" "BBS12" "0000386611" "BBS12" "0000386612" "BBS12" "0000386618" "BBS12" "0000386619" "BBS12" "0000386798" "BBS12" "0000386833" "BBS12" "0000386858" "BBS12" "0000386859" "BBS12" "0000386860" "BBS12" "0000386861" "BBS12" "0000386862" "BBS12" "0000386863" "BBS12" "0000387168" "BBS12" "0000387169" "BBS12" "0000387170" "BBS12" "0000388712" "BBS1" "0000388712" "BBS10" "0000388712" "BBS12" "0000388713" "BBS1" "0000388713" "BBS10" "0000388713" "BBS12" "0000388714" "BBS1" "0000388714" "BBS10" "0000388714" "BBS12" "0000388715" "BBS1" "0000388715" "BBS10" "0000388715" "BBS12" "0000388716" "BBS1" "0000388716" "BBS10" "0000388716" "BBS12" "0000388717" "BBS1" "0000388717" "BBS10" "0000388717" "BBS12" "0000388718" "BBS1" "0000388718" "BBS10" "0000388718" "BBS12" "0000388719" "BBS1" "0000388719" "BBS10" "0000388719" "BBS12" "0000388804" "BBS12" "0000388805" "BBS12" "0000389543" "BBS12" "0000390039" "BBS12" "0000390089" "BBS12" "0000390093" "BBS12" "0000394922" "BBS12" "0000395216" "BBS12" "0000396270" "BBS12" "0000396276" "BBS12" "0000396278" "BBS12" "0000396286" "BBS12" "0000396853" "BBS12" "0000397856" "BBS12" "0000397858" "BBS12" "0000397860" "BBS12" "0000397862" "BBS12" "0000397864" "BBS12" "0000397866" "BBS12" "0000397868" "BBS12" "0000397870" "BBS12" "0000413822" "BBS12" "0000413823" "BBS12" "0000418807" "BBS12" "0000418808" "BBS12" "0000418809" "BBS12" "0000418810" "BBS12" "0000418811" "BBS12" "0000418812" "BBS12" "0000419126" "WDPCP" "0000419982" "BBS12" "0000419983" "BBS12" "0000419984" "BBS12" "0000419986" "BBS12" ## 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 = 288 "{{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}}" "0000001004" "1" "30" "4" "123664427" "123664427" "subst" "0.168902" "00002" "BBS12_000040" "g.123664427G>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs13135766" "0" "" "" "g.122743272G>C" "" "likely benign" "" "0000061104" "1" "90" "4" "123664162" "123664163" "del" "0" "00006" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "F372fsX373" "" "Germline" "yes" "" "0" "" "" "g.122743007_122743008del" "" "pathogenic" "" "0000061105" "2" "90" "4" "123664666" "123664666" "subst" "4.06204E-6" "00006" "BBS12_000014" "g.123664666G>T" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "G540V" "" "Germline" "yes" "" "0" "" "" "g.122743511G>T" "" "pathogenic" "" "0000061106" "1" "90" "4" "123664139" "123664139" "del" "1.62475E-5" "00006" "BBS12_000016" "g.123664139del" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "E365fsX382" "" "Germline" "yes" "" "0" "" "" "g.122742984del" "" "pathogenic" "" "0000061107" "2" "70" "4" "123665180" "123665180" "subst" "4.06845E-6" "00006" "BBS12_000017" "g.123665180G>C" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "X711Y" "" "Germline" "yes" "" "0" "" "" "g.122744025G>C" "" "likely pathogenic" "" "0000162819" "3" "90" "4" "123664663" "123664663" "subst" "8.12334E-6" "01769" "BBS12_000041" "g.123664663G>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122743508G>T" "" "pathogenic" "" "0000246221" "0" "50" "4" "123664906" "123664906" "subst" "0.00054456" "02330" "BBS12_000068" "g.123664906A>G" "" "" "" "BBS12(NM_001178007.1):c.1859A>G (p.Q620R), BBS12(NM_001178007.2):c.1859A>G (p.Q620R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743751A>G" "" "VUS" "" "0000247947" "0" "10" "4" "123664919" "123664919" "subst" "0.165555" "02325" "BBS12_000069" "g.123664919A>G" "" "" "" "BBS12(NM_001178007.1):c.1872A>G (p.Q624=), BBS12(NM_001178007.2):c.1872A>G (p.Q624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743764A>G" "" "benign" "" "0000250700" "0" "10" "4" "123664428" "123664428" "subst" "0.00566913" "02326" "BBS12_000058" "g.123664428A>C" "" "" "" "BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743273A>C" "" "benign" "" "0000251952" "0" "30" "4" "123663259" "123663259" "subst" "0.000491738" "02326" "BBS12_000078" "g.123663259A>G" "" "" "" "BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_001178007.2):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742104A>G" "" "likely benign" "" "0000252606" "0" "90" "4" "123664840" "123664840" "subst" "1.21891E-5" "02326" "BBS12_000066" "g.123664840A>G" "" "" "" "BBS12(NM_152618.3):c.1793A>G (p.Y598C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743685A>G" "" "pathogenic" "" "0000253052" "0" "10" "4" "123664428" "123664428" "subst" "0.00566913" "01943" "BBS12_000058" "g.123664428A>C" "" "" "" "BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743273A>C" "" "benign" "" "0000253208" "0" "10" "4" "123664919" "123664919" "subst" "0.165555" "01943" "BBS12_000069" "g.123664919A>G" "" "" "" "BBS12(NM_001178007.1):c.1872A>G (p.Q624=), BBS12(NM_001178007.2):c.1872A>G (p.Q624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743764A>G" "" "benign" "" "0000253439" "0" "10" "4" "123663098" "123663098" "subst" "0.0166034" "01943" "BBS12_000077" "g.123663098A>G" "" "" "" "BBS12(NM_001178007.1):c.51A>G (p.Q17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122741943A>G" "" "benign" "" "0000255829" "0" "50" "4" "123664906" "123664906" "subst" "0.00054456" "01943" "BBS12_000068" "g.123664906A>G" "" "" "" "BBS12(NM_001178007.1):c.1859A>G (p.Q620R), BBS12(NM_001178007.2):c.1859A>G (p.Q620R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743751A>G" "" "VUS" "" "0000256065" "0" "50" "4" "123664050" "123664050" "subst" "0" "01943" "BBS12_000079" "g.123664050A>G" "" "" "" "BBS12(NM_001178007.1):c.1003A>G (p.I335V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742895A>G" "" "VUS" "" "0000258594" "0" "10" "4" "123663163" "123663163" "subst" "0.00635767" "02330" "BBS12_000044" "g.123663163T>C" "" "" "" "BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_001178007.2):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742008T>C" "" "benign" "" "0000258595" "0" "10" "4" "123664349" "123664349" "subst" "2.03051E-5" "02330" "BBS12_000057" "g.123664349C>T" "" "" "" "BBS12(NM_001178007.2):c.1302C>T (p.I434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743194C>T" "" "benign" "" "0000259228" "0" "10" "4" "123664204" "123664204" "subst" "0.410725" "02325" "BBS12_000053" "g.123664204G>A" "" "" "" "BBS12(NM_001178007.1):c.1157G>A (p.R386Q), BBS12(NM_001178007.2):c.1157G>A (p.R386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743049G>A" "" "benign" "" "0000259229" "0" "10" "4" "123664427" "123664427" "subst" "0.168902" "02325" "BBS12_000040" "g.123664427G>C" "" "" "" "BBS12(NM_001178007.1):c.1380G>C (p.V460=), BBS12(NM_001178007.2):c.1380G>C (p.V460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743272G>C" "" "benign" "" "0000259230" "0" "10" "4" "123664457" "123664457" "subst" "0.182294" "02325" "BBS12_000061" "g.123664457C>T" "" "" "" "BBS12(NM_001178007.1):c.1410C>T (p.C470=), BBS12(NM_001178007.2):c.1410C>T (p.C470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743302C>T" "" "benign" "" "0000259712" "0" "50" "4" "123664728" "123664730" "del" "0" "02325" "BBS12_000065" "g.123664728_123664730del" "" "" "" "BBS12(NM_001178007.2):c.1681_1683delGAA (p.E561del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743573_122743575del" "" "VUS" "" "0000261398" "0" "10" "4" "123664150" "123664150" "subst" "0.00114559" "02326" "BBS12_000052" "g.123664150G>A" "" "" "" "BBS12(NM_001178007.2):c.1103G>A (p.R368H), BBS12(NM_152618.3):c.1103G>A (p.R368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742995G>A" "" "benign" "" "0000261399" "0" "10" "4" "123663163" "123663163" "subst" "0.00635767" "02326" "BBS12_000044" "g.123663163T>C" "" "" "" "BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_001178007.2):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742008T>C" "" "benign" "" "0000261400" "0" "10" "4" "123664498" "123664498" "subst" "0.000999115" "02326" "BBS12_000062" "g.123664498G>A" "" "" "" "BBS12(NM_001178007.1):c.1451G>A (p.R484K), BBS12(NM_001178007.2):c.1451G>A (p.R484K), BBS12(NM_152618.3):c.1451G>A (p.R484K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743343G>A" "" "benign" "" "0000261401" "0" "10" "4" "123664894" "123664894" "subst" "0.00640927" "02326" "BBS12_000067" "g.123664894G>A" "" "" "" "BBS12(NM_001178007.1):c.1847G>A (p.S616N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743739G>A" "" "benign" "" "0000261402" "0" "10" "4" "123665040" "123665040" "subst" "3.36168E-5" "02326" "BBS12_000071" "g.123665040G>A" "" "" "" "BBS12(NM_152618.3):c.1993G>A (p.V665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743885G>A" "" "benign" "" "0000261403" "0" "30" "4" "123663402" "123663402" "subst" "0.00153943" "02326" "BBS12_000046" "g.123663402G>A" "" "" "" "BBS12(NM_001178007.2):c.355G>A (p.G119S), BBS12(NM_152618.3):c.355G>A (p.G119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742247G>A" "" "likely benign" "" "0000261404" "0" "10" "4" "123663425" "123663425" "subst" "0.0041446" "02326" "BBS12_000047" "g.123663425G>T" "" "" "" "BBS12(NM_152618.3):c.378G>T (p.E126D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742270G>T" "" "benign" "" "0000261405" "0" "90" "4" "123663836" "123663836" "subst" "0" "02326" "BBS12_000048" "g.123663836C>A" "" "" "" "BBS12(NM_152618.3):c.789C>A (p.Y263*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742681C>A" "" "pathogenic" "" "0000263562" "0" "10" "4" "123664109" "123664109" "subst" "0.0164776" "01943" "BBS12_000051" "g.123664109G>C" "" "" "" "BBS12(NM_001178007.1):c.1062G>C (p.V354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742954G>C" "" "benign" "" "0000263563" "0" "10" "4" "123664204" "123664204" "subst" "0.410725" "01943" "BBS12_000053" "g.123664204G>A" "" "" "" "BBS12(NM_001178007.1):c.1157G>A (p.R386Q), BBS12(NM_001178007.2):c.1157G>A (p.R386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743049G>A" "" "benign" "" "0000263564" "0" "10" "4" "123664247" "123664247" "subst" "0.0328062" "01943" "BBS12_000054" "g.123664247G>A" "" "" "" "BBS12(NM_001178007.1):c.1200G>A (p.V400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743092G>A" "" "benign" "" "0000263565" "0" "10" "4" "123664256" "123664256" "subst" "0.0172433" "01943" "BBS12_000055" "g.123664256G>A" "" "" "" "BBS12(NM_001178007.1):c.1209G>A (p.V403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743101G>A" "" "benign" "" "0000263566" "0" "10" "4" "123664427" "123664427" "subst" "0.168902" "01943" "BBS12_000040" "g.123664427G>C" "" "" "" "BBS12(NM_001178007.1):c.1380G>C (p.V460=), BBS12(NM_001178007.2):c.1380G>C (p.V460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743272G>C" "" "benign" "" "0000263567" "0" "10" "4" "123664445" "123664445" "subst" "0.207631" "01943" "BBS12_000059" "g.123664445C>T" "" "" "" "BBS12(NM_001178007.1):c.1398C>T (p.G466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743290C>T" "" "benign" "" "0000263568" "0" "50" "4" "123664449" "123664449" "subst" "8.12301E-6" "01943" "BBS12_000060" "g.123664449G>A" "" "" "" "BBS12(NM_001178007.1):c.1402G>A (p.G468R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743294G>A" "" "VUS" "" "0000263569" "0" "10" "4" "123664457" "123664457" "subst" "0.182294" "01943" "BBS12_000061" "g.123664457C>T" "" "" "" "BBS12(NM_001178007.1):c.1410C>T (p.C470=), BBS12(NM_001178007.2):c.1410C>T (p.C470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743302C>T" "" "benign" "" "0000263570" "0" "10" "4" "123664498" "123664498" "subst" "0.000999115" "01943" "BBS12_000062" "g.123664498G>A" "" "" "" "BBS12(NM_001178007.1):c.1451G>A (p.R484K), BBS12(NM_001178007.2):c.1451G>A (p.R484K), BBS12(NM_152618.3):c.1451G>A (p.R484K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743343G>A" "" "benign" "" "0000263572" "0" "10" "4" "123664894" "123664894" "subst" "0.00640927" "01943" "BBS12_000067" "g.123664894G>A" "" "" "" "BBS12(NM_001178007.1):c.1847G>A (p.S616N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743739G>A" "" "benign" "" "0000263573" "0" "50" "4" "123663321" "123663321" "subst" "4.08263E-6" "01943" "BBS12_000045" "g.123663321G>A" "" "" "" "BBS12(NM_001178007.1):c.274G>A (p.V92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742166G>A" "" "VUS" "" "0000263574" "0" "30" "4" "123663105" "123663105" "subst" "0" "01943" "BBS12_000042" "g.123663105T>C" "" "" "" "BBS12(NM_001178007.1):c.58T>C (p.S20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122741950T>C" "" "likely benign" "" "0000337077" "0" "10" "4" "123653926" "123653926" "subst" "0" "02327" "BBS12_000072" "g.123653926G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122732771G>A" "" "benign" "" "0000339345" "0" "10" "4" "123664445" "123664445" "subst" "0.207631" "02327" "BBS12_000059" "g.123664445C>T" "" "" "" "BBS12(NM_001178007.1):c.1398C>T (p.G466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743290C>T" "" "benign" "" "0000340741" "0" "10" "4" "123664457" "123664457" "subst" "0.182294" "02327" "BBS12_000061" "g.123664457C>T" "" "" "" "BBS12(NM_001178007.1):c.1410C>T (p.C470=), BBS12(NM_001178007.2):c.1410C>T (p.C470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743302C>T" "" "benign" "" "0000340753" "0" "10" "4" "123664919" "123664919" "subst" "0.165555" "02327" "BBS12_000069" "g.123664919A>G" "" "" "" "BBS12(NM_001178007.1):c.1872A>G (p.Q624=), BBS12(NM_001178007.2):c.1872A>G (p.Q624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743764A>G" "" "benign" "" "0000341055" "0" "10" "4" "123664109" "123664109" "subst" "0.0164776" "02327" "BBS12_000051" "g.123664109G>C" "" "" "" "BBS12(NM_001178007.1):c.1062G>C (p.V354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742954G>C" "" "benign" "" "0000341057" "0" "10" "4" "123664247" "123664247" "subst" "0.0328062" "02327" "BBS12_000054" "g.123664247G>A" "" "" "" "BBS12(NM_001178007.1):c.1200G>A (p.V400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743092G>A" "" "benign" "" "0000341058" "0" "10" "4" "123664256" "123664256" "subst" "0.0172433" "02327" "BBS12_000055" "g.123664256G>A" "" "" "" "BBS12(NM_001178007.1):c.1209G>A (p.V403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743101G>A" "" "benign" "" "0000341060" "0" "10" "4" "123664427" "123664427" "subst" "0.168902" "02327" "BBS12_000040" "g.123664427G>C" "" "" "" "BBS12(NM_001178007.1):c.1380G>C (p.V460=), BBS12(NM_001178007.2):c.1380G>C (p.V460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743272G>C" "" "benign" "" "0000342784" "0" "10" "4" "123664204" "123664204" "subst" "0.410725" "02327" "BBS12_000053" "g.123664204G>A" "" "" "" "BBS12(NM_001178007.1):c.1157G>A (p.R386Q), BBS12(NM_001178007.2):c.1157G>A (p.R386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743049G>A" "" "benign" "" "0000344111" "0" "10" "4" "123664446" "123664446" "subst" "0.165914" "02327" "BBS12_000076" "g.123664446G>A" "" "" "" "BBS12(NM_001178007.1):c.1399G>A (p.D467N), BBS12(NM_001178007.2):c.1399G>A (p.D467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122743291G>A" "" "benign" "" "0000346701" "0" "50" "4" "123664114" "123664114" "subst" "0" "02327" "BBS12_000075" "g.123664114T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122742959T>G" "" "VUS" "" "0000521485" "0" "50" "4" "123663114" "123663114" "subst" "4.88444E-5" "01943" "BBS12_000080" "g.123663114G>A" "" "" "" "BBS12(NM_001178007.1):c.67G>A (p.A23T), BBS12(NM_152618.3):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122741959G>A" "" "VUS" "" "0000521487" "0" "30" "4" "123663761" "123663761" "subst" "0.00194633" "01943" "BBS12_000082" "g.123663761T>G" "" "" "" "BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_001178007.2):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122742606T>G" "" "likely benign" "" "0000521489" "0" "10" "4" "123663761" "123663761" "subst" "0.00194633" "02326" "BBS12_000082" "g.123663761T>G" "" "" "" "BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_001178007.2):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122742606T>G" "" "benign" "" "0000521491" "0" "10" "4" "123664150" "123664150" "subst" "0.00114559" "02330" "BBS12_000052" "g.123664150G>A" "" "" "" "BBS12(NM_001178007.2):c.1103G>A (p.R368H), BBS12(NM_152618.3):c.1103G>A (p.R368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122742995G>A" "" "benign" "" "0000521493" "0" "90" "4" "123664162" "123664163" "del" "0" "01943" "BBS12_000008" "g.123664162_123664163del" "" "" "" "BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*), BBS12(NM_001178007.2):c.1115_1116delTT (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743007_122743008del" "" "pathogenic" "" "0000521494" "0" "50" "4" "123664162" "123664163" "del" "0" "01804" "BBS12_000008" "g.123664162_123664163del" "" "" "" "BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*), BBS12(NM_001178007.2):c.1115_1116delTT (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743007_122743008del" "" "VUS" "" "0000521495" "0" "30" "4" "123664254" "123664254" "subst" "0.00193298" "01943" "BBS12_000083" "g.123664254G>A" "" "" "" "BBS12(NM_001178007.1):c.1207G>A (p.V403M), BBS12(NM_152618.3):c.1207G>A (p.V403M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743099G>A" "" "likely benign" "" "0000521498" "0" "10" "4" "123664333" "123664333" "subst" "0.00868223" "01943" "BBS12_000085" "g.123664333G>C" "" "" "" "BBS12(NM_001178007.1):c.1286G>C (p.S429T), BBS12(NM_152618.3):c.1286G>C (p.S429T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743178G>C" "" "benign" "" "0000521499" "0" "10" "4" "123664333" "123664333" "subst" "0.00868223" "02326" "BBS12_000085" "g.123664333G>C" "" "" "" "BBS12(NM_001178007.1):c.1286G>C (p.S429T), BBS12(NM_152618.3):c.1286G>C (p.S429T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743178G>C" "" "benign" "" "0000521502" "0" "10" "4" "123664446" "123664446" "subst" "0.165914" "01943" "BBS12_000076" "g.123664446G>A" "" "" "" "BBS12(NM_001178007.1):c.1399G>A (p.D467N), BBS12(NM_001178007.2):c.1399G>A (p.D467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743291G>A" "" "benign" "" "0000521503" "0" "10" "4" "123664446" "123664446" "subst" "0.165914" "02325" "BBS12_000076" "g.123664446G>A" "" "" "" "BBS12(NM_001178007.1):c.1399G>A (p.D467N), BBS12(NM_001178007.2):c.1399G>A (p.D467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743291G>A" "" "benign" "" "0000521505" "0" "30" "4" "123664601" "123664601" "subst" "1.21842E-5" "01943" "BBS12_000087" "g.123664601G>A" "" "" "" "BBS12(NM_001178007.1):c.1554G>A (p.R518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743446G>A" "" "likely benign" "" "0000521506" "0" "30" "4" "123664658" "123664658" "subst" "0" "01943" "BBS12_000088" "g.123664658T>C" "" "" "" "BBS12(NM_001178007.1):c.1611T>C (p.L537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743503T>C" "" "likely benign" "" "0000521508" "0" "30" "4" "123665061" "123665061" "subst" "0.0011047" "02330" "BBS12_000089" "g.123665061G>A" "" "" "" "BBS12(NM_001178007.1):c.2014G>A (p.A672T, p.(Ala672Thr)), BBS12(NM_001178007.2):c.2014G>A (p.A672T), BBS12(NM_152618.3):c.2014G>A (p.A672T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743906G>A" "" "likely benign" "" "0000521509" "0" "50" "4" "123665061" "123665061" "subst" "0.0011047" "01943" "BBS12_000089" "g.123665061G>A" "" "" "" "BBS12(NM_001178007.1):c.2014G>A (p.A672T, p.(Ala672Thr)), BBS12(NM_001178007.2):c.2014G>A (p.A672T), BBS12(NM_152618.3):c.2014G>A (p.A672T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743906G>A" "" "VUS" "" "0000521510" "0" "30" "4" "123665061" "123665061" "subst" "0.0011047" "01804" "BBS12_000089" "g.123665061G>A" "" "" "" "BBS12(NM_001178007.1):c.2014G>A (p.A672T, p.(Ala672Thr)), BBS12(NM_001178007.2):c.2014G>A (p.A672T), BBS12(NM_152618.3):c.2014G>A (p.A672T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743906G>A" "" "likely benign" "" "0000521511" "0" "30" "4" "123665061" "123665061" "subst" "0.0011047" "02326" "BBS12_000089" "g.123665061G>A" "" "" "" "BBS12(NM_001178007.1):c.2014G>A (p.A672T, p.(Ala672Thr)), BBS12(NM_001178007.2):c.2014G>A (p.A672T), BBS12(NM_152618.3):c.2014G>A (p.A672T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743906G>A" "" "likely benign" "" "0000521512" "0" "50" "4" "123665161" "123665161" "subst" "4.47402E-5" "02330" "BBS12_000090" "g.123665161C>T" "" "" "" "BBS12(NM_001178007.2):c.2114C>T (p.T705M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122744006C>T" "" "VUS" "" "0000609056" "0" "90" "4" "123663717" "123663717" "dup" "0" "02327" "BBS12_000081" "g.123663717dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122742562dup" "" "pathogenic" "" "0000609057" "0" "90" "4" "123664578" "123664578" "subst" "0" "02327" "BBS12_000092" "g.123664578C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743423C>T" "" "pathogenic" "" "0000609058" "0" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "02327" "BBS12_000093" "g.123665070C>T" "" "" "" "BBS12(NM_001178007.1):c.2023C>T (p.R675*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743915C>T" "" "pathogenic" "" "0000621346" "0" "30" "4" "123663152" "123663152" "subst" "0.000410619" "01943" "BBS12_000091" "g.123663152A>T" "" "" "" "BBS12(NM_001178007.1):c.105A>T (p.S35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122741997A>T" "" "likely benign" "" "0000651390" "1" "50" "4" "123663163" "123663163" "subst" "0.00635767" "03575" "BBS12_000044" "g.123663163T>C" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; {DB:CLININrs138036823}" "Germline" "" "rs138036823" "0" "" "" "g.122742008T>C" "" "VUS" "" "0000651391" "1" "30" "4" "123664256" "123664256" "subst" "0.0172433" "03575" "BBS12_000055" "g.123664256G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs17006092}" "Germline" "" "rs17006092" "0" "" "" "g.122743101G>A" "" "likely benign" "" "0000655083" "0" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "01943" "BBS12_000093" "g.123665070C>T" "" "" "" "BBS12(NM_001178007.1):c.2023C>T (p.R675*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122743915C>T" "" "pathogenic" "" "0000663588" "1" "50" "4" "123664237" "123664237" "subst" "8.12183E-6" "00006" "BBS12_000094" "g.123664237C>T" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.122743082C>T" "" "VUS" "" "0000677183" "0" "30" "4" "123663259" "123663259" "subst" "0.000491738" "01943" "BBS12_000078" "g.123663259A>G" "" "" "" "BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_001178007.2):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719728" "0" "30" "4" "123663122" "123663122" "subst" "6.91709E-5" "02330" "BBS12_000043" "g.123663122A>G" "" "" "" "BBS12(NM_001178007.2):c.75A>G (p.T25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719729" "0" "90" "4" "123664162" "123664163" "del" "0" "02329" "BBS12_000008" "g.123664162_123664163del" "" "" "" "BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*), BBS12(NM_001178007.2):c.1115_1116delTT (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719730" "0" "30" "4" "123664334" "123664334" "subst" "0.000519784" "02330" "BBS12_000056" "g.123664334T>C" "" "" "" "BBS12(NM_001178007.2):c.1287T>C (p.S429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719731" "0" "70" "4" "123664578" "123664586" "del" "0" "02329" "BBS12_000086" "g.123664578_123664586del" "" "" "" "BBS12(NM_001178007.2):c.1531_1539delCAGATGCAA (p.Q511_Q513del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719732" "0" "30" "4" "123664749" "123664749" "subst" "5.69291E-5" "01943" "BBS12_000095" "g.123664749T>C" "" "" "" "BBS12(NM_001178007.1):c.1702T>C (p.W568R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719733" "0" "50" "4" "123665164" "123665164" "subst" "1.62698E-5" "01943" "BBS12_000096" "g.123665164G>C" "" "" "" "BBS12(NM_001178007.1):c.2117G>C (p.G706A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731088" "0" "50" "4" "123663664" "123663664" "subst" "0" "00000" "BBS12_000097" "g.123663664T>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.122742509T>G" "" "VUS" "" "0000732468" "0" "50" "4" "123663163" "123663163" "subst" "0.00635767" "00000" "BBS12_000044" "g.123663163T>C" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.122742008T>C" "" "VUS" "" "0000732477" "0" "50" "4" "123663402" "123663402" "subst" "0.00153943" "00000" "BBS12_000046" "g.123663402G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.122742247G>A" "" "VUS" "" "0000735590" "0" "70" "4" "123664102" "123664102" "subst" "4.87555E-5" "00000" "BBS12_000098" "g.123664102A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_152618.2:1055A>C (Gln352Pro)" "" "Germline" "" "" "0" "" "" "g.122742947A>C" "" "likely pathogenic" "" "0000735717" "0" "70" "4" "123664102" "123664102" "subst" "4.87555E-5" "00000" "BBS12_000098" "g.123664102A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_152618.2:1055A>C (Gln352Pro)" "" "Germline" "" "" "0" "" "" "g.122742947A>C" "" "likely pathogenic" "" "0000735986" "1" "70" "4" "123664162" "123664163" "del" "0" "02485" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.1114_1115del" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.122743007_122743008del" "" "likely pathogenic" "" "0000760040" "0" "50" "4" "123663163" "123663163" "subst" "0.00635767" "00000" "BBS12_000044" "g.123663163T>C" "" "{PMID:Tiwari 2016:27353947}" "" "NM_152618.2:c.116T>C" "" "Germline" "" "" "0" "" "" "g.122742008T>C" "" "VUS" "" "0000760157" "3" "70" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.122742955C>T" "" "likely pathogenic" "" "0000793713" "3" "90" "4" "123664530" "123664531" "del" "0" "00000" "BBS12_000100" "g.123664530_123664531del" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "1483_1484delGA (E495fsX498)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793714" "3" "90" "4" "123664636" "123664636" "subst" "0" "00000" "BBS12_000101" "g.123664636T>C" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "1589T/C (L530P)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793715" "3" "90" "4" "123664636" "123664636" "subst" "0" "00000" "BBS12_000101" "g.123664636T>C" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "1589T/C (L530P)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000797938" "0" "70" "4" "123664578" "123664586" "del" "0" "00000" "BBS12_000086" "g.123664578_123664586del" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS12 c.1531_1539del, p.(Gln511_Gln513del)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.122743423_122743431del" "" "likely pathogenic" "ACMG" "0000797939" "0" "70" "4" "123664270" "123664270" "subst" "0" "00000" "BBS12_000102" "g.123664270A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS12 c.1223A>G, p.(Lys408Arg)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.122743115A>G" "" "likely pathogenic" "ACMG" "0000798444" "0" "70" "4" "123664428" "123664428" "subst" "0.00566913" "00000" "BBS12_000058" "g.123664428A>C" "" "{PMID:Song-2011:22025579}" "" "c.1381A>C" "" "Unknown" "" "rs10027479" "0" "" "" "" "" "likely pathogenic" "" "0000801486" "0" "50" "4" "123663624" "123663624" "subst" "0" "01943" "BBS12_000103" "g.123663624C>T" "" "" "" "BBS12(NM_001178007.1):c.577C>T (p.P193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801487" "0" "30" "4" "123664058" "123664058" "subst" "8.12552E-6" "02330" "BBS12_000104" "g.123664058T>C" "" "" "" "BBS12(NM_001178007.2):c.1011T>C (p.V337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801488" "0" "50" "4" "123664546" "123664546" "subst" "0.00037769" "01943" "BBS12_000105" "g.123664546T>C" "" "" "" "BBS12(NM_001178007.1):c.1499T>C (p.V500A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801489" "0" "50" "4" "123664618" "123664618" "subst" "8.12222E-6" "01943" "BBS12_000106" "g.123664618A>G" "" "" "" "BBS12(NM_001178007.1):c.1571A>G (p.Y524C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801490" "0" "50" "4" "123665071" "123665071" "subst" "2.89963E-5" "01943" "BBS12_000107" "g.123665071G>A" "" "" "" "BBS12(NM_001178007.1):c.2024G>A (p.R675Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810875" "0" "50" "4" "123663163" "123663163" "subst" "0.00635767" "00000" "BBS12_000044" "g.123663163T>C" "<0.01" "{PMID:Anasagasti-2013:24416769}" "" "p.Ile39Thr" "" "Germline" "yes" "rs138036823" "0" "" "" "" "" "VUS" "" "0000810933" "3" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "p.Gly539Asp" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000810983" "3" "70" "4" "123663370" "123663370" "subst" "0" "00000" "BBS12_000109" "g.123663370C>G" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.704C>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810995" "3" "70" "4" "123663270" "123663270" "del" "0" "00000" "BBS12_000108" "g.123663270del" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.223delC" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811184" "2" "70" "4" "123664549" "123664549" "subst" "3.65536E-5" "00000" "BBS12_000124" "g.123664549C>T" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1502C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811185" "1" "70" "4" "123663317" "123663317" "del" "0" "00000" "BBS12_000113" "g.123663317del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.268delT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811186" "2" "70" "4" "123664084" "123664084" "subst" "0" "00000" "BBS12_000120" "g.123664084T>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1037T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811187" "1" "70" "4" "123663523" "123663523" "subst" "8.12499E-6" "00000" "BBS12_000116" "g.123663523C>T" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.476C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811189" "3" "70" "4" "123663816" "123663816" "dup" "0" "00000" "BBS12_000117" "g.123663816dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.769insA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811190" "3" "70" "4" "123663912" "123663912" "subst" "1.21998E-5" "00000" "BBS12_000118" "g.123663912G>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.865G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811191" "3" "70" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1063C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811192" "3" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1114delTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811193" "3" "70" "4" "123664530" "123664531" "del" "0" "00000" "BBS12_000100" "g.123664530_123664531del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1483delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811194" "1" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "N506K/DelP507" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811195" "2" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "G630fsX638/N506K/DelP507" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811196" "1" "70" "4" "123664826" "123664827" "ins" "0" "00000" "BBS12_000127" "g.123664826_123664827insA" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1779insA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811197" "2" "70" "4" "123664937" "123664938" "del" "4.06832E-6" "00000" "BBS12_000128" "g.123664937_123664938del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.1890delCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811198" "3" "70" "4" "123663382" "123663384" "del" "0" "00000" "BBS12_000115" "g.123663382_123663384del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "c.335delGTA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811231" "0" "50" "4" "123664238" "123664238" "subst" "0" "00000" "BBS12_000122" "g.123664238A>G" "0/100 ethnically matched control chromosomes" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS12: c.1191A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000811234" "3" "50" "4" "123664619" "123664619" "subst" "0" "00000" "BBS12_000125" "g.123664619A>G" "0/100 ethnically matched control chromosomes" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS12: c.1572A>G" "A not found at position 1953, found T instead." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000811236" "0" "70" "4" "123663467" "123663470" "del" "0" "00000" "BBS12_000073" "g.123663467_123663470del" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.420_423delTATG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811237" "0" "70" "4" "123664578" "123664586" "del" "0" "00000" "BBS12_000086" "g.123664578_123664586del" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.1531_1539delCAGATGCAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811254" "0" "10" "4" "123663163" "123663163" "subst" "0.00635767" "00000" "BBS12_000044" "g.123663163T>C" "0.01" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.116T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811255" "0" "10" "4" "123663921" "123663921" "subst" "0" "00000" "BBS12_000119" "g.123663921C>T" "0.01" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.874C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811260" "3" "90" "4" "123664161" "123664162" "del" "0" "00000" "BBS12_000121" "g.123664161_123664162delTT" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "p.F372fsX373 (c.1114delTT)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811261" "3" "90" "4" "123664161" "123664162" "del" "0" "00000" "BBS12_000121" "g.123664161_123664162delTT" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "p.F372fsX373 (c.1114delTT)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811262" "3" "90" "4" "123664666" "123664666" "subst" "0" "00000" "BBS12_000126" "g.123664666G>A" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "p.G540D (c.1620 G>A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811263" "3" "90" "4" "123663370" "123663370" "subst" "0" "00000" "BBS12_000114" "g.123663370C>T" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "p.P108L (c.3232C>T)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811264" "3" "90" "4" "123663370" "123663370" "subst" "0" "00000" "BBS12_000114" "g.123663370C>T" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "p.P108L (c.3232C>T)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811701" "3" "90" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Manara 2019:31196119}" "" "BBS12 c.1063C>T, p.(Arg355*)" "homozygous" "Germline" "?" "rs121918327" "0" "" "" "g.122742955C>T" "" "pathogenic" "ACMG" "0000811704" "3" "90" "4" "123664578" "123664586" "del" "0" "00000" "BBS12_000086" "g.123664578_123664586del" "" "{PMID:Manara 2019:31196119}" "" "BBS12 c.1531_1539del, p.(Gln511_Gln513del)" "homozygous" "Germline" "yes" "rs752762669" "0" "" "" "g.122743423_122743431del" "" "pathogenic" "ACMG" "0000811710" "0" "70" "4" "123663163" "123663163" "subst" "0.00635767" "00000" "BBS12_000044" "g.123663163T>C" "" "{PMID:Manara 2019:31196119}" "" "BBS12 c.116T>C, p.Ile39Thr" "heterozygous" "Germline" "?" "rs138036823" "0" "" "" "g.122742008T>C" "" "likely pathogenic" "ACMG" "0000811933" "0" "70" "4" "123664441" "123664441" "subst" "4.06147E-6" "00000" "BBS12_000123" "g.123664441T>C" "" "{PMID:Hariri 2018:31047384}" "" "c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.122743286T>C" "" "likely pathogenic" "" "0000811934" "0" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Hariri 2018:31047384}" "" "c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.122743007_122743008del" "" "likely pathogenic" "" "0000812987" "11" "90" "4" "123663312" "123663313" "del" "0" "00000" "BBS12_000111" "g.123663312_123663313del" "" "{PMID:Jaffal 2019:31888296}" "" "c.265_266delTT, p. (Leu89Valfs*11)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.122742157_122742158del" "" "pathogenic" "ACMG" "0000812988" "21" "70" "4" "123663927" "123663927" "subst" "0" "00000" "BBS12_000112" "g.123663927T>G" "" "{PMID:Jaffal 2019:31888296}" "" "c.880T > G, p. (Tyr294Asp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.122742772T>G" "" "likely pathogenic" "ACMG" "0000813108" "0" "70" "4" "123664441" "123664441" "subst" "4.06147E-6" "00000" "BBS12_000123" "g.123664441T>C" "" "{PMID:Feuillan-2011:21209035}" "" "c.1394T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813109" "0" "70" "4" "123664940" "123664941" "del" "0" "00000" "BBS12_000143" "g.123664940_123664941del" "" "{PMID:Feuillan-2011:21209035}" "" "c.1893_1894delTC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813110" "3" "70" "4" "123664485" "123664485" "del" "0" "00000" "BBS12_000136" "g.123664485del" "" "{PMID:Feuillan-2011:21209035}" "" "c.1438delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813111" "3" "70" "4" "123664485" "123664485" "del" "0" "00000" "BBS12_000136" "g.123664485del" "" "{PMID:Feuillan-2011:21209035}" "" "c.1438delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813131" "0" "30" "4" "123664550" "123664550" "subst" "0" "00000" "BBS12_000137" "g.123664550G>C" "" "{PMID:Billingsley-2010:20472660}" "" "[T501T]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813134" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[K243IfsX15]+[K243IfsX15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813137" "20" "30" "4" "123663402" "123663402" "subst" "0.00153943" "00000" "BBS12_000046" "g.123663402G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[G119S;Y263H]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813138" "20" "30" "4" "123663834" "123663834" "subst" "4.06276E-5" "00000" "BBS12_000130" "g.123663834T>C" "" "{PMID:Billingsley-2010:20472660}" "" "[G119S;Y263H]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813139" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[K243IfsX15]+[K243IfsX15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813140" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[K243IfsX15]+[K243IfsX15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813141" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[K243IfsX15]+[K243IfsX15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813151" "3" "90" "4" "123665067" "123665067" "subst" "1.24673E-5" "00000" "BBS12_000145" "g.123665067C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[V400M;R674C]+[V400M;R674C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813152" "3" "90" "4" "123664245" "123664245" "subst" "7.30994E-5" "00000" "BBS12_000135" "g.123664245G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[V400M;R674C]+[V400M;R674C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813154" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[D480MfsX3]+[D480MfsX3]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813156" "1" "90" "4" "123664549" "123664549" "subst" "3.65536E-5" "00000" "BBS12_000124" "g.123664549C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[T501M]+[R525H]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813158" "2" "90" "4" "123664621" "123664621" "subst" "1.21833E-5" "00000" "BBS12_000141" "g.123664621G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[T501M]+[R525H]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813166" "3" "90" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[R355Q]+[R355Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813169" "0" "90" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[R355Q]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813172" "3" "90" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[R355Q]+[R355Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813305" "3" "70" "4" "123664006" "123664006" "subst" "0" "00000" "BBS12_000132" "g.123664006T>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.959T>A p.(L320Q)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813311" "3" "70" "4" "123664006" "123664006" "subst" "0" "00000" "BBS12_000132" "g.123664006T>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.959T>A p.(L320Q)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813317" "3" "70" "4" "123665040" "123665043" "del" "0" "00000" "BBS12_000144" "g.123665040_123665043del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1993_1996del p.(V665Lfs*14)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813878" "3" "70" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Jiman 2020:31836858}" "" "BBS12;NM_001178007.1;;c.[1063C>T];[1063C>T];p.[(Arg355*)];[(Arg355*)];(mumishet)" "homozygous; sister is also homozygous" "Germline" "yes" "" "0" "" "" "g.122742955C>T" "" "likely pathogenic" "" "0000813914" "0" "90" "4" "123663402" "123663402" "subst" "0.00153943" "00000" "BBS12_000046" "g.123663402G>A" "" "{PMID:Chen-2011:21642631}" "" "c.355G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813924" "0" "70" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Chen-2011:21642631}" "" "c.2023C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813925" "0" "70" "4" "123663523" "123663523" "subst" "8.12499E-6" "00000" "BBS12_000116" "g.123663523C>T" "" "{PMID:Chen-2011:21642631}" "" "c.476C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813971" "0" "70" "4" "123664607" "123664607" "subst" "0" "00000" "BBS12_000140" "g.123664607G>A" "" "{PMID:Chen-2011:21642631}" "" "1560G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813972" "0" "90" "4" "123663402" "123663402" "subst" "0.00153943" "00000" "BBS12_000046" "g.123663402G>A" "" "{PMID:Chen-2011:21642631}" "" "c.355G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814037" "3" "70" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Schaefer-2011:21044901}" "" "c.1063C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814113" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.T549I]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814114" "0" "50" "4" "123663523" "123663523" "subst" "8.12499E-6" "00000" "BBS12_000116" "g.123663523C>T" "" "{PMID:Imhoff-2011:20876674}" "" "[p.E61K]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814115" "0" "50" "4" "123664084" "123664084" "subst" "0" "00000" "BBS12_000120" "g.123664084T>C" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L125R]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814116" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L779Q]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814117" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.P425L]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814136" "1" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91W];[p.V707XfsX1]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814149" "2" "70" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.N524del]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814199" "3" "70" "4" "123664550" "123664550" "subst" "8.12269E-6" "00000" "BBS12_000138" "g.123664550G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814204" "3" "70" "4" "123663402" "123663402" "subst" "0.00153943" "00000" "BBS12_000046" "g.123663402G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.Y317C];[p.Y317C]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814206" "3" "70" "4" "123663834" "123663834" "subst" "4.06276E-5" "00000" "BBS12_000130" "g.123663834T>C" "" "{PMID:Deveault-2011:21344540}" "" "[p.Y24X];[p.Y24X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814223" "3" "70" "4" "123664245" "123664245" "subst" "7.30994E-5" "00000" "BBS12_000135" "g.123664245G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.K243IfsX15];[p.K243IfsX15]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814224" "3" "70" "4" "123665067" "123665067" "subst" "1.24673E-5" "00000" "BBS12_000145" "g.123665067C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.K243IfsX15];[p.K243IfsX15]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814227" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.V400M; p.R674C];[p.V400M; p.R674C]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814231" "3" "70" "4" "123664549" "123664549" "subst" "3.65536E-5" "00000" "BBS12_000124" "g.123664549C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.R355Q];[p.R355Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814232" "3" "70" "4" "123664582" "123664582" "subst" "0" "00000" "BBS12_000139" "g.123664582G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.R355Q];[p.R355Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814233" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.S578X];[p.S578X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814234" "10" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Deveault-2011:21344540}" "" "(c.2023C > T; p.Arg675X)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814235" "10" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "(c.2023C > T; p.Arg675X)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814236" "20" "70" "4" "123663310" "123663310" "subst" "0" "00000" "BBS12_000129" "g.123663310T>G" "" "{PMID:Deveault-2011:21344540}" "" "(c.1115_1116delTT; p.Phe372X)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814237" "20" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "(c.271dupG; p.Cys91fs)" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814240" "0" "70" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Deveault-2011:21344540}" "" "M390R/E384X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814241" "0" "70" "4" "123664111" "123664111" "subst" "8.12539E-6" "00000" "BBS12_000133" "g.123664111G>A" "" "{PMID:Deveault-2011:21344540}" "" "M390R/E384X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814242" "0" "70" "4" "123663924" "123663924" "subst" "0" "00000" "BBS12_000131" "g.123663924C>G" "" "{PMID:Deveault-2011:21344540}" "" "M390R/E384X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814243" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/E384X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814244" "0" "70" "4" "123664780" "123664780" "subst" "0" "00000" "BBS12_000142" "g.123664780C>A" "" "{PMID:Deveault-2011:21344540}" "" "M390R/E384X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814252" "0" "70" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Dulfer-2010:20827784}" "" "C91fsX95/Y321X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814253" "0" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000134" "g.123664162_123664163delTT" "" "{PMID:Dulfer-2010:20827784}" "" "R49W/L414S" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814255" "0" "70" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Dulfer-2010:20827784}" "" "P159L/I346T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814256" "0" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000134" "g.123664162_123664163delTT" "" "{PMID:Dulfer-2010:20827784}" "" "P159L/I346T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814533" "3" "90" "4" "123664045" "123664045" "subst" "0" "00000" "BBS12_000146" "g.123664045G>A" "" "{PMID:Janssen-2011:21052717}" "" "c.998G>A(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814588" "0" "70" "4" "123664554" "123664554" "subst" "1.6245E-5" "00000" "BBS12_000150" "g.123664554G>A" "1.4% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.1507G>A(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814643" "3" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1115_1116delTT/p.(Phe372fs*1)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814644" "0" "70" "4" "123663310" "123663310" "subst" "0" "00000" "BBS12_000129" "g.123663310T>G" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.263T>G/p.(Leu88Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814645" "0" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1616G>A/p.(Gly539Asp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814646" "0" "70" "4" "123663310" "123663310" "subst" "0" "00000" "BBS12_000129" "g.123663310T>G" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.263T>G/p.(Leu88Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814647" "0" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1115_1116delTT/p.(Phe372fs*1)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814648" "0" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1616G>A/p.(Gly539Asp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814649" "0" "70" "4" "123664940" "123664941" "del" "0" "00000" "BBS12_000143" "g.123664940_123664941del" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1893_1894delTC/p.(Ser631Serfs*7)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814650" "0" "70" "4" "123663310" "123663310" "subst" "0" "00000" "BBS12_000129" "g.123663310T>G" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.263T>G/p.(Leu88Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814651" "0" "70" "4" "123664430" "123664433" "del" "0" "00000" "BBS12_000149" "g.123664430_123664433del" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1383_1386delTGAA/p.(Asn461Lysfs*9)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814652" "0" "70" "4" "123664129" "123664129" "del" "0" "00000" "BBS12_000147" "g.123664129del" "0/100 chromosomes" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1082delG/p.(Gly361Valfs*21)b" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814653" "0" "70" "4" "123664187" "123664187" "del" "0" "00000" "BBS12_000148" "g.123664187del" "0/100 chromosomes" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1140delA/p.(Thr380Thrfs*2)b" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815042" "3" "90" "4" "123664203" "123664204" "delins" "0" "00000" "BBS12_000151" "g.123664203_123664204delinsTA" "" "{PMID:Fattahi 2014:24849935}" "" "c.1156_1157CG>TA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815043" "3" "90" "4" "123665066" "123665066" "del" "0" "00000" "BBS12_000152" "g.123665066del" "" "{PMID:Fattahi 2014:24849935}" "" "c.2019del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815044" "3" "90" "4" "123664203" "123664204" "delins" "0" "00000" "BBS12_000151" "g.123664203_123664204delinsTA" "" "{PMID:Fattahi 2014:24849935}" "" "c.1156_1157CG>TA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817459" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Phe372fs*1)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817460" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Phe372fs*1)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817461" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Phe372fs*1)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817462" "3" "70" "4" "123664666" "123664666" "subst" "0" "00000" "BBS12_000126" "g.123664666G>A" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gly540Asp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817463" "0" "70" "4" "123663310" "123663310" "subst" "0" "00000" "BBS12_000129" "g.123663310T>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Leu88Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817464" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Asn461fs*9)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817465" "0" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gly539Asp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817466" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Ser631fs*7)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817467" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gly361fs*21)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817468" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Thr380fs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817469" "3" "70" "4" "123664663" "123664663" "subst" "0" "00000" "BBS12_000110" "g.123664663G>A" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gly539Asp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817562" "0" "50" "4" "123663523" "123663523" "subst" "8.12499E-6" "00000" "BBS12_000116" "g.123663523C>T" "" "{PMID:Scheidecker 2015:25982971}" "" "p.P159L" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817563" "0" "50" "4" "123664084" "123664084" "subst" "0" "00000" "BBS12_000120" "g.123664084T>C" "" "{PMID:Scheidecker 2015:25982971}" "" "p.I346T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000818635" "3" "70" "4" "123664323" "123664323" "subst" "8.1215E-6" "00000" "BBS12_000153" "g.123664323T>C" "" "{PMID:Tao 2020:32448990}" "" "c.1276T>C, p.C426R" "Homozygous" "Germline" "yes" "" "0" "" "" "g.122743168T>C" "" "likely pathogenic (recessive)" "ACMG" "0000819384" "1" "70" "4" "123663945" "123663945" "subst" "4.06709E-6" "00000" "BBS12_000154" "g.123663945C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355*" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122742790C>T" "" "likely pathogenic" "" "0000819434" "1" "70" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.2023C>T/p.R675*, variant 2: c.1504G>T/p.A502S" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122743915C>T" "" "likely pathogenic" "" "0000819438" "1" "70" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122743007_122743008del" "" "likely pathogenic" "" "0000820630" "1" "70" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355*" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122742955C>T" "" "likely pathogenic" "" "0000820645" "1" "70" "4" "123664551" "123664551" "subst" "1.62447E-5" "00000" "BBS12_000155" "g.123664551G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.2023C>T/p.R675*, variant 2: c.1504G>T/p.A502S" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122743396G>T" "" "likely pathogenic" "" "0000820646" "1" "70" "4" "123664284" "123664284" "subst" "3.65494E-5" "00000" "BBS12_000084" "g.123664284C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.122743129C>G" "" "likely pathogenic" "" "0000826016" "3" "70" "4" "123664323" "123664323" "subst" "8.1215E-6" "00000" "BBS12_000153" "g.123664323T>C" "" "{PMID:Liu-2020:33090715}" "" "c.1276T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826455" "3" "90" "4" "123663742" "123663778" "del" "0" "00000" "BBS12_000156" "g.123663742_123663778del" "" "{PMID:Strong-2020:33369054}" "" "c.695_731del37" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000827839" "0" "50" "4" "123664149" "123664149" "subst" "6.0936E-5" "00000" "BBS12_000157" "g.123664149C>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS12 C1102T, p.R368C" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.122742994C>T" "" "VUS" "ACMG" "0000827845" "0" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS12 c.C2023T, p.R675X" "homozygous; solved" "Unknown" "?" "" "0" "" "" "g.122743915C>T" "" "pathogenic" "ACMG" "0000827847" "0" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS12 c.C2023T, p.R675X" "homozygous; solved" "Unknown" "?" "" "0" "" "" "g.122743915C>T" "" "pathogenic" "ACMG" "0000827855" "0" "90" "4" "123663945" "123663945" "subst" "4.06709E-6" "00000" "BBS12_000154" "g.123663945C>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS12 c.898C>T, p.Q300X" "homozygous; solved" "Unknown" "?" "" "0" "" "" "g.122742790C>T" "" "pathogenic" "ACMG" "0000828552" "3" "50" "4" "123664674" "123664674" "subst" "0" "00000" "BBS12_000158" "g.123664674G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS12, c.1627G>A, p.Glu543Lys, homozygous" "" "Unknown" "?" "" "0" "" "" "g.122743519G>A" "" "VUS" "ACMG" "0000830066" "1" "90" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[1063C>T];[1063C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830067" "2" "90" "4" "123664110" "123664110" "subst" "2.4376E-5" "00000" "BBS12_000099" "g.123664110C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[1063C>T];[1063C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830068" "1" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[2023C>T];[2023C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830069" "2" "90" "4" "123665070" "123665070" "subst" "8.29194E-6" "00000" "BBS12_000093" "g.123665070C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[2023C>T];[2023C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830070" "1" "90" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1893_1894del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830071" "2" "90" "4" "123664940" "123664941" "del" "0" "00000" "BBS12_000143" "g.123664940_123664941del" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1893_1894del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830072" "1" "90" "4" "123664102" "123664102" "subst" "4.87555E-5" "00000" "BBS12_000098" "g.123664102A>C" "" "{PMID:Mary-2019:30614526}" "" "c.[1055A>C];[1055A>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830073" "2" "90" "4" "123664102" "123664102" "subst" "4.87555E-5" "00000" "BBS12_000098" "g.123664102A>C" "" "{PMID:Mary-2019:30614526}" "" "c.[1055A>C];[1055A>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830074" "1" "90" "4" "123663112" "123663112" "subst" "1.22057E-5" "00000" "BBS12_000159" "g.123663112T>C" "" "{PMID:Mary-2019:30614526}" "" "c.[65T>C];[65T>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830075" "2" "90" "4" "123663112" "123663112" "subst" "1.22057E-5" "00000" "BBS12_000159" "g.123663112T>C" "" "{PMID:Mary-2019:30614526}" "" "c.[65T>C];[65T>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830076" "1" "90" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1502C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830077" "2" "90" "4" "123664549" "123664549" "subst" "3.65536E-5" "00000" "BBS12_000124" "g.123664549C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1502C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830078" "1" "90" "4" "123664162" "123664163" "del" "0" "00000" "BBS12_000008" "g.123664162_123664163del" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1502C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830079" "2" "90" "4" "123664549" "123664549" "subst" "3.65536E-5" "00000" "BBS12_000124" "g.123664549C>T" "" "{PMID:Mary-2019:30614526}" "" "c.[1115_1116del];[1502C>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830080" "1" "90" "4" "123663717" "123663717" "dup" "0" "00000" "BBS12_000081" "g.123663717dup" "" "{PMID:Mary-2019:30614526}" "" "c.[670dup];[1574G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830081" "2" "90" "4" "123664621" "123664621" "subst" "1.21833E-5" "00000" "BBS12_000141" "g.123664621G>A" "" "{PMID:Mary-2019:30614526}" "" "c.[670dup];[1574G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000834081" "11" "70" "4" "123663222" "123663222" "del" "0" "00006" "BBS12_000161" "g.123663222del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.173(exon3)delA" "" "Germline" "" "rs1197816407" "0" "" "" "g.122742067del" "" "likely pathogenic" "ACMG" "0000834082" "11" "50" "4" "123664830" "123664830" "subst" "0" "00006" "BBS12_000163" "g.123664830T>C" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1783(exon3)T>C" "" "Germline" "" "" "0" "" "" "g.122743675T>C" "" "VUS" "ACMG" "0000834141" "21" "50" "4" "123664651" "123664651" "subst" "0" "00006" "BBS12_000162" "g.123664651T>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1604(exon3)T>G" "" "Germline" "" "" "0" "" "" "g.122743496T>G" "" "VUS" "ACMG" "0000834142" "21" "70" "4" "123664796" "123664797" "del" "0" "00006" "BBS12_000160" "g.123664796_123664797del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1749(exon3)_c.1750(exon3)ins" "variant description corrected by authors (e-mail)" "Germline" "" "" "0" "" "" "g.122743641_122743642del" "" "likely pathogenic" "ACMG" "0000859225" "0" "10" "4" "123664498" "123664498" "subst" "0.000999115" "02330" "BBS12_000062" "g.123664498G>A" "" "" "" "BBS12(NM_001178007.1):c.1451G>A (p.R484K), BBS12(NM_001178007.2):c.1451G>A (p.R484K), BBS12(NM_152618.3):c.1451G>A (p.R484K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000871367" "0" "30" "4" "123665061" "123665061" "subst" "0.0011047" "00000" "BBS12_000089" "g.123665061G>A" "" "{PMID:Maria 2016:27708425}" "" "BBS12 c.2014G>A , p.(A672T)" "heterozygous" "Germline" "no" "" "0" "" "" "g.122743906G>A" "" "likely benign" "" "0000871368" "0" "30" "4" "123665061" "123665061" "subst" "0.0011047" "00000" "BBS12_000089" "g.123665061G>A" "" "{PMID:Maria 2016:27708425}" "" "BBS12 c.2014G>A , p.(A672T)" "heterozygous" "Germline" "no" "" "0" "" "" "g.122743906G>A" "" "likely benign" "" "0000878674" "3" "70" "4" "123665088" "123665096" "del" "0" "00000" "BBS12_000165" "g.123665088_123665096del" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.2041_2049del, p.(Leu682_Leu684del)" "homozygous" "Germline" "?" "" "0" "" "" "g.122743933_122743941del" "" "likely pathogenic" "" "0000878675" "3" "70" "4" "123665088" "123665096" "del" "0" "00000" "BBS12_000165" "g.123665088_123665096del" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.2041_2049del, p.(Leu682_Leu684del)" "homozygous" "Germline" "?" "" "0" "" "" "g.122743933_122743941del" "" "likely pathogenic" "" "0000878676" "3" "70" "4" "123663834" "123663834" "dup" "0" "00000" "BBS12_000164" "g.123663834dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.787dup, p.(Tyr263Leufs*4)" "homozygous" "Germline" "?" "" "0" "" "" "g.122742679dup" "" "likely pathogenic" "" "0000878677" "3" "70" "4" "123663834" "123663834" "dup" "0" "00000" "BBS12_000164" "g.123663834dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.787dup, p.(Tyr263Leufs*4)" "homozygous" "Germline" "?" "" "0" "" "" "g.122742679dup" "" "likely pathogenic" "" "0000878678" "3" "70" "4" "123663834" "123663834" "dup" "0" "00000" "BBS12_000164" "g.123663834dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.787dup, p.(Tyr263Leufs*4)" "homozygous" "Germline" "?" "" "0" "" "" "g.122742679dup" "" "likely pathogenic" "" "0000878679" "3" "70" "4" "123663834" "123663834" "dup" "0" "00000" "BBS12_000164" "g.123663834dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS12 c.787dup, p.(Tyr263Leufs*4)" "homozygous" "Germline" "?" "" "0" "" "" "g.122742679dup" "" "likely pathogenic" "" "0000879048" "0" "50" "4" "123664139" "123664139" "del" "1.62475E-5" "00000" "BBS12_000016" "g.123664139del" "" "{PMID:Kim 2010:20671153}" "" "WDPCP c.1092delA" "no protein annotation, extrapolated from nucleotide and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.122742984del" "" "VUS" "" "0000880210" "3" "70" "4" "123665149" "123665149" "subst" "0" "00000" "BBS12_000168" "g.123665149C>A" "" "{PMID:Pawlik 2009:20648243}" "" "BBS12 c.2103C>A (p.S701X)" "error in annotation, should be c.2102C>A; homozygous" "Germline" "yes" "" "0" "" "" "g.122743994C>A" "" "likely pathogenic" "" "0000880211" "3" "70" "4" "123665149" "123665149" "subst" "0" "00000" "BBS12_000168" "g.123665149C>A" "" "{PMID:Pawlik 2009:20648243}" "" "BBS12 c.2103C>A (p.S701X)" "error in annotation, should be c.2102C>A; homozygous" "Germline" "yes" "" "0" "" "" "g.122743994C>A" "" "likely pathogenic" "" "0000880212" "3" "70" "4" "123665149" "123665149" "subst" "0" "00000" "BBS12_000168" "g.123665149C>A" "" "{PMID:Pawlik 2009:20648243}" "" "BBS12 c.2103C>A (p.S701X)" "error in annotation, should be c.2102C>A; homozygous" "Germline" "yes" "" "0" "" "" "g.122743994C>A" "" "likely pathogenic" "" "0000880215" "21" "70" "4" "123663103" "123663103" "subst" "0" "00000" "BBS12_000166" "g.123663103T>G" "" "{PMID:Nikkhah 2017:29633607}" "" "BBS12 c.56T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.122741948T>G" "" "likely pathogenic" "" "0000880216" "11" "70" "4" "123664203" "123664203" "subst" "7.3116E-5" "00000" "BBS12_000167" "g.123664203C>T" "" "{PMID:Nikkhah 2017:29633607}" "" "BBS12 c.1156C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.122743048C>T" "" "likely pathogenic" "" "0000886114" "0" "50" "4" "123663115" "123663115" "subst" "3.25704E-5" "02325" "BBS12_000169" "g.123663115C>T" "" "" "" "BBS12(NM_152618.3):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886115" "0" "10" "4" "123663402" "123663402" "subst" "0.00153943" "02330" "BBS12_000046" "g.123663402G>A" "" "" "" "BBS12(NM_001178007.2):c.355G>A (p.G119S), BBS12(NM_152618.3):c.355G>A (p.G119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886116" "0" "30" "4" "123664254" "123664254" "subst" "0.00193298" "02326" "BBS12_000083" "g.123664254G>A" "" "" "" "BBS12(NM_001178007.1):c.1207G>A (p.V403M), BBS12(NM_152618.3):c.1207G>A (p.V403M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963000" "0" "30" "4" "123663761" "123663761" "subst" "0.00194633" "02330" "BBS12_000082" "g.123663761T>G" "" "" "" "BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_001178007.2):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963001" "0" "30" "4" "123665026" "123665026" "subst" "0.000213579" "02330" "BBS12_000070" "g.123665026C>T" "" "" "" "BBS12(NM_001178007.2):c.1979C>T (p.P660L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976105" "0" "50" "4" "123663114" "123663114" "subst" "4.88444E-5" "01804" "BBS12_000080" "g.123663114G>A" "" "" "" "BBS12(NM_001178007.1):c.67G>A (p.A23T), BBS12(NM_152618.3):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976106" "0" "90" "4" "123664549" "123664549" "subst" "3.65536E-5" "01804" "BBS12_000124" "g.123664549C>T" "" "" "" "BBS12(NM_152618.3):c.1502C>T (p.(Thr501Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013933" "0" "30" "4" "123663259" "123663259" "subst" "0.000491738" "02330" "BBS12_000078" "g.123663259A>G" "" "" "" "BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_001178007.2):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013934" "0" "90" "4" "123664162" "123664163" "del" "0" "02326" "BBS12_000008" "g.123664162_123664163del" "" "" "" "BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*), BBS12(NM_001178007.2):c.1115_1116delTT (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024887" "0" "50" "4" "123663163" "123663163" "subst" "0.00635767" "01943" "BBS12_000044" "g.123663163T>C" "" "" "" "BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_001178007.2):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034316" "0" "70" "4" "123663854" "123663854" "dup" "0" "01804" "BBS12_000170" "g.123663854dup" "" "" "" "BBS12(NM_152618.3):c.807dup (p.(Glu270Argfs*42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 BBS12 ## Count = 415 "{{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}}" "0000001004" "00025744" "30" "1380" "0" "1380" "0" "c.1380G>C" "r.(=)" "p.(=)" "" "0000001004" "00000148" "30" "1380" "0" "1380" "0" "c.1380G>C" "r.(=)" "p.(=)" "3" "0000061104" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000061105" "00000148" "90" "1619" "0" "1619" "0" "c.1619G>T" "r.(?)" "p.(Gly540Val)" "3" "0000061106" "00000148" "90" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Glu365Argfs*18)" "3" "0000061107" "00000148" "70" "2133" "0" "2133" "0" "c.2133G>C" "r.(?)" "p.(*711Tyrext*17)" "17" "0000162819" "00000148" "90" "1616" "0" "1616" "0" "c.1616G>T" "r.(?)" "p.(Gly539Val)" "3" "0000246221" "00025744" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "" "0000246221" "00000148" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "" "0000247947" "00025744" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000247947" "00000148" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000250700" "00025744" "10" "1381" "0" "1381" "0" "c.1381A>C" "r.(?)" "p.(Asn461His)" "" "0000250700" "00000148" "10" "1381" "0" "1381" "0" "c.1381A>C" "r.(?)" "p.(Asn461His)" "" "0000251952" "00025744" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000251952" "00000148" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000252606" "00025744" "90" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Tyr598Cys)" "" "0000252606" "00000148" "90" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Tyr598Cys)" "" "0000253052" "00025744" "10" "1381" "0" "1381" "0" "c.1381A>C" "r.(?)" "p.(Asn461His)" "" "0000253052" "00000148" "10" "1381" "0" "1381" "0" "c.1381A>C" "r.(?)" "p.(Asn461His)" "" "0000253208" "00025744" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000253208" "00000148" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000253439" "00025744" "10" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Gln17=)" "" "0000253439" "00000148" "10" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Gln17=)" "" "0000255829" "00025744" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "" "0000255829" "00000148" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "" "0000256065" "00025744" "50" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Ile335Val)" "" "0000256065" "00000148" "50" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Ile335Val)" "" "0000258594" "00025744" "10" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000258594" "00000148" "10" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000258595" "00025744" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Ile434=)" "" "0000258595" "00000148" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Ile434=)" "" "0000259228" "00025744" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000259228" "00000148" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000259229" "00025744" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000259229" "00000148" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000259230" "00025744" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000259230" "00000148" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000259712" "00025744" "50" "1681" "0" "1683" "0" "c.1681_1683del" "r.(?)" "p.(Glu561del)" "" "0000259712" "00000148" "50" "1681" "0" "1683" "0" "c.1681_1683del" "r.(?)" "p.(Glu561del)" "" "0000261398" "00025744" "10" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" "0000261398" "00000148" "10" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" "0000261399" "00025744" "10" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000261399" "00000148" "10" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000261400" "00025744" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000261400" "00000148" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000261401" "00025744" "10" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Ser616Asn)" "" "0000261401" "00000148" "10" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Ser616Asn)" "" "0000261402" "00025744" "10" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Val665Ile)" "" "0000261402" "00000148" "10" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Val665Ile)" "" "0000261403" "00025744" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "" "0000261403" "00000148" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "" "0000261404" "00025744" "10" "378" "0" "378" "0" "c.378G>T" "r.(?)" "p.(Glu126Asp)" "" "0000261404" "00000148" "10" "378" "0" "378" "0" "c.378G>T" "r.(?)" "p.(Glu126Asp)" "" "0000261405" "00025744" "90" "789" "0" "789" "0" "c.789C>A" "r.(?)" "p.(Tyr263Ter)" "" "0000261405" "00000148" "90" "789" "0" "789" "0" "c.789C>A" "r.(?)" "p.(Tyr263Ter)" "" "0000263562" "00025744" "10" "1062" "0" "1062" "0" "c.1062G>C" "r.(?)" "p.(Val354=)" "" "0000263562" "00000148" "10" "1062" "0" "1062" "0" "c.1062G>C" "r.(?)" "p.(Val354=)" "" "0000263563" "00025744" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000263563" "00000148" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000263564" "00025744" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Val400=)" "" "0000263564" "00000148" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Val400=)" "" "0000263565" "00025744" "10" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Val403=)" "" "0000263565" "00000148" "10" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Val403=)" "" "0000263566" "00025744" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000263566" "00000148" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000263567" "00025744" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Gly466=)" "" "0000263567" "00000148" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Gly466=)" "" "0000263568" "00025744" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Gly468Arg)" "" "0000263568" "00000148" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Gly468Arg)" "" "0000263569" "00025744" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000263569" "00000148" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000263570" "00025744" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000263570" "00000148" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000263572" "00025744" "10" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Ser616Asn)" "" "0000263572" "00000148" "10" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Ser616Asn)" "" "0000263573" "00025744" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000263573" "00000148" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000263574" "00025744" "30" "58" "0" "58" "0" "c.58T>C" "r.(?)" "p.(Ser20Pro)" "" "0000263574" "00000148" "30" "58" "0" "58" "0" "c.58T>C" "r.(?)" "p.(Ser20Pro)" "" "0000337077" "00025744" "10" "-124" "0" "-124" "0" "c.-124G>A" "r.(?)" "p.(=)" "" "0000337077" "00000148" "10" "-312" "0" "-312" "0" "c.-312G>A" "r.(?)" "p.(=)" "" "0000339345" "00025744" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Gly466=)" "" "0000339345" "00000148" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Gly466=)" "" "0000340741" "00025744" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000340741" "00000148" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Cys470=)" "" "0000340753" "00025744" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000340753" "00000148" "10" "1872" "0" "1872" "0" "c.1872A>G" "r.(?)" "p.(Gln624=)" "" "0000341055" "00025744" "10" "1062" "0" "1062" "0" "c.1062G>C" "r.(?)" "p.(Val354=)" "" "0000341055" "00000148" "10" "1062" "0" "1062" "0" "c.1062G>C" "r.(?)" "p.(Val354=)" "" "0000341057" "00025744" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Val400=)" "" "0000341057" "00000148" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Val400=)" "" "0000341058" "00025744" "10" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Val403=)" "" "0000341058" "00000148" "10" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Val403=)" "" "0000341060" "00025744" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000341060" "00000148" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Val460=)" "" "0000342784" "00025744" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000342784" "00000148" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000344111" "00025744" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000344111" "00000148" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000346701" "00025744" "50" "1067" "0" "1067" "0" "c.1067T>G" "r.(?)" "p.(Ile356Arg)" "" "0000346701" "00000148" "50" "1067" "0" "1067" "0" "c.1067T>G" "r.(?)" "p.(Ile356Arg)" "" "0000521485" "00025744" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000521485" "00000148" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000521487" "00025744" "30" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000521487" "00000148" "30" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000521489" "00025744" "10" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000521489" "00000148" "10" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000521491" "00025744" "10" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" "0000521491" "00000148" "10" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" "0000521493" "00025744" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000521493" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000521494" "00025744" "50" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000521494" "00000148" "50" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000521495" "00025744" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Met)" "" "0000521495" "00000148" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Met)" "" "0000521498" "00025744" "10" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Ser429Thr)" "" "0000521498" "00000148" "10" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Ser429Thr)" "" "0000521499" "00025744" "10" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Ser429Thr)" "" "0000521499" "00000148" "10" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Ser429Thr)" "" "0000521502" "00025744" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000521502" "00000148" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000521503" "00025744" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000521503" "00000148" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Asp467Asn)" "" "0000521505" "00025744" "30" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Arg518=)" "" "0000521505" "00000148" "30" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Arg518=)" "" "0000521506" "00025744" "30" "1611" "0" "1611" "0" "c.1611T>C" "r.(?)" "p.(Leu537=)" "" "0000521506" "00000148" "30" "1611" "0" "1611" "0" "c.1611T>C" "r.(?)" "p.(Leu537=)" "" "0000521508" "00025744" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521508" "00000148" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521509" "00025744" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521509" "00000148" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521510" "00025744" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521510" "00000148" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521511" "00025744" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521511" "00000148" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000521512" "00025744" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Met)" "" "0000521512" "00000148" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Met)" "" "0000609056" "00025744" "90" "670" "0" "670" "0" "c.670dup" "r.(?)" "p.(Thr224AsnfsTer12)" "" "0000609056" "00000148" "90" "670" "0" "670" "0" "c.670dup" "r.(?)" "p.(Thr224AsnfsTer12)" "" "0000609057" "00025744" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Gln511Ter)" "" "0000609057" "00000148" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Gln511Ter)" "" "0000609058" "00025744" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000609058" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000621346" "00025744" "30" "105" "0" "105" "0" "c.105A>T" "r.(?)" "p.(Ser35=)" "" "0000621346" "00000148" "30" "105" "0" "105" "0" "c.105A>T" "r.(?)" "p.(Ser35=)" "" "0000651390" "00025744" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000651390" "00000148" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000651391" "00025744" "30" "1209" "0" "1209" "0" "c.1209G>A" "r.(=)" "p.(=)" "" "0000651391" "00000148" "30" "1209" "0" "1209" "0" "c.1209G>A" "r.(=)" "p.(=)" "" "0000655083" "00025744" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000655083" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000663588" "00000148" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Ala397Val)" "" "0000677183" "00025744" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000677183" "00000148" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000719728" "00025744" "30" "75" "0" "75" "0" "c.75A>G" "r.(?)" "p.(Thr25=)" "" "0000719728" "00000148" "30" "75" "0" "75" "0" "c.75A>G" "r.(?)" "p.(Thr25=)" "" "0000719729" "00025744" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000719729" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0000719730" "00025744" "30" "1287" "0" "1287" "0" "c.1287T>C" "r.(?)" "p.(Ser429=)" "" "0000719730" "00000148" "30" "1287" "0" "1287" "0" "c.1287T>C" "r.(?)" "p.(Ser429=)" "" "0000719731" "00025744" "70" "1531" "0" "1539" "0" "c.1531_1539del" "r.(?)" "p.(Gln511_Gln513del)" "" "0000719731" "00000148" "70" "1531" "0" "1539" "0" "c.1531_1539del" "r.(?)" "p.(Gln511_Gln513del)" "" "0000719732" "00025744" "30" "1702" "0" "1702" "0" "c.1702T>C" "r.(?)" "p.(Trp568Arg)" "" "0000719732" "00000148" "30" "1702" "0" "1702" "0" "c.1702T>C" "r.(?)" "p.(Trp568Arg)" "" "0000719733" "00025744" "50" "2117" "0" "2117" "0" "c.2117G>C" "r.(?)" "p.(Gly706Ala)" "" "0000719733" "00000148" "50" "2117" "0" "2117" "0" "c.2117G>C" "r.(?)" "p.(Gly706Ala)" "" "0000731088" "00000148" "50" "617" "0" "617" "0" "c.617T>G" "r.(?)" "p.(Val206Gly)" "" "0000732468" "00000148" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000732477" "00000148" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "" "0000735590" "00025744" "70" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "" "0000735590" "00000148" "70" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "" "0000735717" "00025744" "70" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "" "0000735717" "00000148" "70" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "" "0000735986" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "2" "0000760040" "00025744" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000760040" "00000148" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0000760157" "00000148" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "0000793713" "00000148" "90" "1483" "0" "1484" "0" "c.1483_1484del" "r.(?)" "p.(Glu495Argfs*3)" "3" "0000793714" "00000148" "90" "1589" "0" "1589" "0" "c.1589T>C" "r.(?)" "p.(Leu530Pro)" "3" "0000793715" "00000148" "90" "1589" "0" "1589" "0" "c.1589T>C" "r.(?)" "p.(Leu530Pro)" "3" "0000797938" "00000148" "70" "1531" "0" "1539" "0" "c.1531_1539del" "r.(?)" "p.(Gln511_Gln513del)" "" "0000797939" "00000148" "70" "1223" "0" "1223" "0" "c.1223A>G" "r.(?)" "p.(Lys408Arg)" "" "0000798444" "00000148" "70" "1381" "0" "1381" "0" "c.1381A>C" "r.(?)" "p.(Asn461His)" "3" "0000801486" "00025744" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "0000801486" "00000148" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "0000801487" "00025744" "30" "1011" "0" "1011" "0" "c.1011T>C" "r.(?)" "p.(Val337=)" "" "0000801487" "00000148" "30" "1011" "0" "1011" "0" "c.1011T>C" "r.(?)" "p.(Val337=)" "" "0000801488" "00025744" "50" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Val500Ala)" "" "0000801488" "00000148" "50" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Val500Ala)" "" "0000801489" "00025744" "50" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Tyr524Cys)" "" "0000801489" "00000148" "50" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Tyr524Cys)" "" "0000801490" "00025744" "50" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0000801490" "00000148" "50" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0000810875" "00000148" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "3" "0000810933" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000810983" "00000148" "70" "323" "0" "323" "0" "c.323C>G" "r.(?)" "p.(Pro108Arg)" "3" "0000810995" "00000148" "70" "223" "0" "223" "0" "c.223del" "r.(?)" "p.(Gln75Lysfs*37)" "3" "0000811184" "00000148" "70" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "3" "0000811185" "00000148" "70" "270" "0" "270" "0" "c.270del" "r.(?)" "p.(Val92Leufs*20)" "3" "0000811186" "00000148" "70" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Ile346Thr)" "3" "0000811187" "00000148" "70" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "3" "0000811189" "00000148" "70" "769" "0" "769" "0" "c.769dup" "r.(?)" "p.(Thr257Asnfs*10)" "3" "0000811190" "00000148" "70" "865" "0" "865" "0" "c.865G>C" "r.(?)" "p.(Ala289Pro)" "3" "0000811191" "00000148" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "3" "0000811192" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000811193" "00000148" "70" "1483" "0" "1484" "0" "c.1483_1484del" "r.(?)" "p.(Glu495Argfs*3)" "3" "0000811194" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811195" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811196" "00000148" "70" "1779" "0" "1780" "0" "c.1779_1780insA" "r.(?)" "p.(Gly594Argfs*12)" "3" "0000811197" "00000148" "70" "1890" "0" "1891" "0" "c.1890_1891del" "r.(?)" "p.(Pro632Phefs*7)" "3" "0000811198" "00000148" "70" "335" "0" "337" "0" "c.335_337del" "r.(?)" "p.(Val113del)" "3" "0000811231" "00000148" "50" "1191" "0" "1191" "0" "c.1191A>G" "r.(=)" "p.(=)" "3" "0000811234" "00000148" "50" "1572" "0" "1572" "0" "c.1572A>G" "r.(?)" "p.?" "3" "0000811236" "00000148" "70" "420" "0" "423" "0" "c.420_423del" "r.(?)" "p.(Cys140Trpfs*15)" "3" "0000811237" "00000148" "70" "1531" "0" "1539" "0" "c.1531_1539del" "r.(?)" "p.(Gln511_Gln513del)" "3" "0000811254" "00000148" "10" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "3" "0000811255" "00000148" "10" "874" "0" "874" "0" "c.874C>T" "r.(=)" "p.(=)" "3" "0000811260" "00000148" "90" "1114" "0" "1115" "0" "c.1114_1115delTT" "r.(?)" "p.(Phe372*)" "3" "0000811261" "00000148" "90" "1114" "0" "1115" "0" "c.1114_1115delTT" "r.(?)" "p.(Phe372*)" "3" "0000811262" "00000148" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Gly540Asp)" "3" "0000811263" "00000148" "90" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Pro108Leu)" "3" "0000811264" "00000148" "90" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Pro108Leu)" "3" "0000811701" "00000148" "90" "1063" "0" "1063" "0" "c.1063C>T" "c.1063C>T" "p.(Arg355*)" "2" "0000811704" "00000148" "90" "1531" "0" "1539" "0" "c.1531_1539del" "c.1531_1539del" "p.(Gln511_Gln513del)" "2" "0000811710" "00000148" "70" "116" "0" "116" "0" "c.116T>C" "c.116T>C" "p.(Ile39Thr)" "2" "0000811933" "00000148" "70" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Val465Ala)" "" "0000811934" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "" "0000812987" "00000148" "90" "265" "0" "266" "0" "c.265_266del" "r.(?)" "p.(Leu89Valfs*11)" "" "0000812988" "00000148" "70" "880" "0" "880" "0" "c.880T>G" "r.(?)" "p.(Tyr294Asp)" "" "0000813108" "00000148" "70" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Val465Ala)" "3" "0000813109" "00000148" "70" "1893" "0" "1894" "0" "c.1893_1894del" "r.(?)" "p.(Pro632Phefs*7)" "3" "0000813110" "00000148" "70" "1438" "0" "1438" "0" "c.1438del" "r.(?)" "p.(Asp480Metfs*3)" "3" "0000813111" "00000148" "70" "1438" "0" "1438" "0" "c.1438del" "r.(?)" "p.(Asp480Metfs*3)" "3" "0000813131" "00000148" "30" "1503" "0" "1503" "0" "c.1503G>H" "r.(=)" "p.(=)" "3" "0000813134" "00000148" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.K243IfsX15" "" "0000813137" "00000148" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "3" "0000813138" "00000148" "30" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "3" "0000813139" "00000148" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.K243IfsX15" "" "0000813140" "00000148" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.K243IfsX15" "" "0000813141" "00000148" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.K243IfsX15" "" "0000813151" "00000148" "90" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "3" "0000813152" "00000148" "90" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Met)" "3" "0000813154" "00000148" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.D480MfsX3" "" "0000813156" "00000148" "90" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "3" "0000813158" "00000148" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525His)" "3" "0000813166" "00000148" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000813169" "00000148" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000813172" "00000148" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000813305" "00000148" "70" "959" "0" "959" "0" "c.959T>A" "r.(?)" "p.(Leu320Gln)" "3" "0000813311" "00000148" "70" "959" "0" "959" "0" "c.959T>A" "r.(?)" "p.(Leu320Gln)" "3" "0000813317" "00000148" "70" "1993" "0" "1996" "0" "c.1993_1996del" "r.(?)" "p.(Val665Leufs*14)" "3" "0000813878" "00025744" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "0000813878" "00000148" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "0000813914" "00000148" "90" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "3" "0000813924" "00000148" "70" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "3" "0000813925" "00000148" "70" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "3" "0000813971" "00000148" "70" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Trp520*)" "3" "0000813972" "00000148" "90" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "3" "0000814037" "00000148" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "3" "0000814113" "00000148" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814114" "00000148" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "3" "0000814115" "00000148" "50" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Ile346Thr)" "3" "0000814116" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814117" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814136" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814149" "00000148" "70" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000814199" "00000148" "70" "1503" "0" "1503" "0" "c.1503G>A" "r.(=)" "p.(=)" "3" "0000814204" "00000148" "70" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "3" "0000814206" "00000148" "70" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "3" "0000814223" "00000148" "70" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Met)" "3" "0000814224" "00000148" "70" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "3" "0000814227" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814231" "00000148" "70" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "3" "0000814232" "00000148" "70" "1535" "0" "1535" "0" "c.1535G>A" "r.(?)" "p.?" "3" "0000814233" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814234" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000814235" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814236" "00000148" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Arg)" "3" "0000814237" "00000148" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814240" "00000148" "70" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000814241" "00000148" "70" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "3" "0000814242" "00000148" "70" "877" "0" "877" "0" "c.877C>G" "r.(?)" "p.(Gln293Glu)" "3" "0000814243" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814244" "00000148" "70" "1733" "0" "1733" "0" "c.1733C>A" "r.(?)" "p.(Ser578*)" "3" "0000814252" "00000148" "70" "2023" "0" "2023" "0" "c.2023C > T" "r.(?)" "p.(Arg675*)" "3" "0000814253" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116delTT" "r.(?)" "p.(Phe372*)" "3" "0000814255" "00000148" "70" "2023" "0" "2023" "0" "c.2023C > T" "r.(?)" "p.(Arg675*)" "3" "0000814256" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116delTT" "r.(?)" "p.(Phe372*)" "3" "0000814533" "00000148" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Gly333Glu)" "3" "0000814588" "00000148" "70" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Val503Met)" "3" "0000814643" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000814644" "00000148" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Arg)" "3" "0000814645" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000814646" "00000148" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Arg)" "3" "0000814647" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000814648" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000814649" "00000148" "70" "1893" "0" "1894" "0" "c.1893_1894del" "r.(?)" "p.(Pro632Phefs*7)" "3" "0000814650" "00000148" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Arg)" "3" "0000814651" "00000148" "70" "1383" "0" "1386" "0" "c.1383_1386del" "r.(?)" "p.(Asn461Lysfs*10)" "3" "0000814652" "00000148" "70" "1082" "0" "1082" "0" "c.1082del" "r.(?)" "p.(Gly361Valfs*22)" "3" "0000814653" "00000148" "70" "1140" "0" "1140" "0" "c.1140del" "r.(?)" "p.(Val381Tyrfs*2)" "3" "0000815042" "00000148" "90" "1156" "0" "1157" "0" "c.1156_1157delinsTA" "r.(?)" "p.(Arg386*)" "3" "0000815043" "00000148" "90" "2019" "0" "2019" "0" "c.2019del" "r.(?)" "p.(Trp673Cysfs*7)" "3" "0000815044" "00000148" "90" "1156" "0" "1157" "0" "c.1156_1157delinsTA" "r.(?)" "p.(Arg386*)" "3" "0000817459" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Phe372fs*1)" "" "0000817460" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Phe372fs*1)" "" "0000817461" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Phe372fs*1)" "" "0000817462" "00000148" "70" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Gly540Asp)" "3" "0000817463" "00000148" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Arg)" "3" "0000817464" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn461fs*9)" "" "0000817465" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000817466" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ser631fs*7)" "" "0000817467" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly361fs*21)" "" "0000817468" "00000148" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr380fs*2)" "" "0000817469" "00000148" "70" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "3" "0000817562" "00000148" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "3" "0000817563" "00000148" "50" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Ile346Thr)" "3" "0000818635" "00025744" "70" "1276" "0" "1276" "0" "c.1276T>C" "r.(?)" "p.(Cys426Arg)" "" "0000818635" "00000148" "70" "1276" "0" "1276" "0" "c.1276T>C" "r.(?)" "p.(Cys426Arg)" "" "0000819384" "00025744" "70" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300*)" "" "0000819384" "00000148" "70" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300*)" "" "0000819434" "00025744" "70" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "" "0000819434" "00000148" "70" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "" "0000819438" "00025744" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "" "0000819438" "00000148" "70" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "" "0000820630" "00025744" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "0000820630" "00000148" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "0000820645" "00025744" "70" "1504" "0" "1504" "0" "c.1504G>T" "r.(?)" "p.(Ala502Ser)" "" "0000820645" "00000148" "70" "1504" "0" "1504" "0" "c.1504G>T" "r.(?)" "p.(Ala502Ser)" "" "0000820646" "00025744" "70" "1237" "0" "1237" "0" "c.1237C>G" "r.(?)" "p.(Leu413Val)" "" "0000820646" "00000148" "70" "1237" "0" "1237" "0" "c.1237C>G" "r.(?)" "p.(Leu413Val)" "" "0000826016" "00000148" "70" "1276" "0" "1276" "0" "c.1276T>C" "r.(?)" "p.(Cys426Arg)" "3" "0000826455" "00000148" "90" "695" "0" "731" "0" "c.695_731del" "r.(?)" "p.(Ile232Lysfs*3)" "3" "0000827839" "00025744" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000827839" "00000148" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000827845" "00025744" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "" "0000827845" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000827847" "00025744" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "" "0000827847" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000827855" "00025744" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300*)" "" "0000827855" "00000148" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300Ter)" "" "0000828552" "00025744" "50" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Glu543Lys)" "" "0000828552" "00000148" "50" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Glu543Lys)" "" "0000830066" "00000148" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "3" "0000830067" "00000148" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "3" "0000830068" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "3" "0000830069" "00000148" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675*)" "3" "0000830070" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000830071" "00000148" "90" "1893" "0" "1894" "0" "c.1893_1894del" "r.(?)" "p.(Pro632Phefs*7)" "3" "0000830072" "00000148" "90" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "3" "0000830073" "00000148" "90" "1055" "0" "1055" "0" "c.1055A>C" "r.(?)" "p.(Gln352Pro)" "3" "0000830074" "00000148" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Phe22Ser)" "3" "0000830075" "00000148" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Phe22Ser)" "3" "0000830076" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000830077" "00000148" "90" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "3" "0000830078" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372*)" "3" "0000830079" "00000148" "90" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "3" "0000830080" "00000148" "90" "670" "0" "670" "0" "c.670dup" "r.(?)" "p.(Thr224Asnfs*12)" "3" "0000830081" "00000148" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525His)" "3" "0000834081" "00000148" "70" "175" "0" "175" "0" "c.175del" "r.(?)" "p.(Ser59ValfsTer4)" "3" "0000834082" "00000148" "50" "1783" "0" "1783" "0" "c.1783T>C" "r.(?)" "p.(Trp595Arg)" "3" "0000834141" "00000148" "50" "1604" "0" "1604" "0" "c.1604T>G" "r.(?)" "p.(Val535Gly)" "3" "0000834142" "00000148" "70" "1749" "0" "1750" "0" "c.1749_1750del" "r.(?)" "p.(Tyr583*)" "3" "0000859225" "00025744" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000859225" "00000148" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000871367" "00025744" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000871367" "00000148" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000871368" "00025744" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000871368" "00000148" "30" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000878674" "00025744" "70" "2041" "0" "2049" "0" "c.2041_2049del" "r.(?)" "p.(Leu682_Leu684del)" "" "0000878674" "00000148" "70" "2041" "0" "2049" "0" "c.2041_2049del" "r.(?)" "p.(Leu682_Leu684del)" "" "0000878675" "00025744" "70" "2041" "0" "2049" "0" "c.2041_2049del" "r.(?)" "p.(Leu682_Leu684del)" "" "0000878675" "00000148" "70" "2041" "0" "2049" "0" "c.2041_2049del" "r.(?)" "p.(Leu682_Leu684del)" "" "0000878676" "00025744" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878676" "00000148" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878677" "00025744" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878677" "00000148" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878678" "00025744" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878678" "00000148" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878679" "00025744" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000878679" "00000148" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Tyr263Leufs*4)" "" "0000879048" "00025744" "50" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Glu365Argfs*18)" "" "0000879048" "00000148" "50" "1092" "0" "1092" "0" "c.1092delA" "r.(?)" "p.(Glu365ArgfsTer18)" "" "0000880210" "00025744" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880210" "00000148" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880211" "00025744" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880211" "00000148" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880212" "00025744" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880212" "00000148" "70" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Ser701*)" "" "0000880215" "00025744" "70" "56" "0" "56" "0" "c.56T>G" "r.(?)" "p.(Leu19Arg)" "" "0000880215" "00000148" "70" "56" "0" "56" "0" "c.56T>G" "r.(?)" "p.(Leu19Arg)" "" "0000880216" "00025744" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0000880216" "00000148" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0000886114" "00025744" "50" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "" "0000886114" "00000148" "50" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "" "0000886115" "00025744" "10" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "" "0000886115" "00000148" "10" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Ser)" "" "0000886116" "00025744" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Met)" "" "0000886116" "00000148" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Met)" "" "0000963000" "00025744" "30" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000963000" "00000148" "30" "714" "0" "714" "0" "c.714T>G" "r.(?)" "p.(Asn238Lys)" "" "0000963001" "00025744" "30" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Pro660Leu)" "" "0000963001" "00000148" "30" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Pro660Leu)" "" "0000976105" "00025744" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000976105" "00000148" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000976106" "00025744" "90" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "" "0000976106" "00000148" "90" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Thr501Met)" "" "0001013933" "00025744" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0001013933" "00000148" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0001013934" "00025744" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0001013934" "00000148" "90" "1115" "0" "1116" "0" "c.1115_1116del" "r.(?)" "p.(Phe372Ter)" "" "0001024887" "00025744" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0001024887" "00000148" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Ile39Thr)" "" "0001034316" "00025744" "70" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Glu270Argfs*42)" "" "0001034316" "00000148" "70" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Glu270Argfs*42)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 194 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001004" "0000034100" "0000061104" "0000034100" "0000061105" "0000034101" "0000061106" "0000034101" "0000061107" "0000100520" "0000162819" "0000294701" "0000651390" "0000294702" "0000651391" "0000300751" "0000663588" "0000333439" "0000731088" "0000334581" "0000732468" "0000334583" "0000732477" "0000336315" "0000735590" "0000336315" "0000735717" "0000336561" "0000735986" "0000360204" "0000760040" "0000360265" "0000760157" "0000380570" "0000793713" "0000380571" "0000793714" "0000380572" "0000793715" "0000383701" "0000797938" "0000383702" "0000797939" "0000384019" "0000798444" "0000384293" "0000810875" "0000384324" "0000810933" "0000384364" "0000810983" "0000384375" "0000810995" "0000384495" "0000811184" "0000384495" "0000811185" "0000384496" "0000811186" "0000384496" "0000811187" "0000384497" "0000811189" "0000384498" "0000811190" "0000384499" "0000811191" "0000384500" "0000811192" "0000384501" "0000811193" "0000384502" "0000811194" "0000384502" "0000811195" "0000384503" "0000811196" "0000384503" "0000811197" "0000384504" "0000811198" "0000384524" "0000811231" "0000384525" "0000811234" "0000384526" "0000811236" "0000384526" "0000811237" "0000384542" "0000811254" "0000384543" "0000811255" "0000384548" "0000811260" "0000384549" "0000811261" "0000384550" "0000811262" "0000384551" "0000811263" "0000384552" "0000811264" "0000384880" "0000811710" "0000384882" "0000811701" "0000384885" "0000811704" "0000385065" "0000811933" "0000385065" "0000811934" "0000385832" "0000812987" "0000385832" "0000812988" "0000385927" "0000813108" "0000385927" "0000813109" "0000385928" "0000813110" "0000385929" "0000813111" "0000385940" "0000813131" "0000385942" "0000813134" "0000385943" "0000813137" "0000385943" "0000813138" "0000385944" "0000813139" "0000385945" "0000813140" "0000385946" "0000813141" "0000385952" "0000813151" "0000385952" "0000813152" "0000385953" "0000813154" "0000385954" "0000813156" "0000385954" "0000813158" "0000385958" "0000813166" "0000385959" "0000813169" "0000385960" "0000813172" "0000386058" "0000813305" "0000386059" "0000813311" "0000386060" "0000813317" "0000386385" "0000813878" "0000386410" "0000813914" "0000386415" "0000813924" "0000386415" "0000813925" "0000386451" "0000813971" "0000386451" "0000813972" "0000386491" "0000814037" "0000386542" "0000814113" "0000386543" "0000814114" "0000386543" "0000814115" "0000386544" "0000814116" "0000386545" "0000814117" "0000386555" "0000814136" "0000386561" "0000814149" "0000386591" "0000814199" "0000386594" "0000814204" "0000386594" "0000814206" "0000386603" "0000814223" "0000386603" "0000814224" "0000386604" "0000814227" "0000386605" "0000814231" "0000386605" "0000814232" "0000386606" "0000814233" "0000386607" "0000814234" "0000386607" "0000814235" "0000386608" "0000814236" "0000386608" "0000814237" "0000386609" "0000814240" "0000386610" "0000814241" "0000386611" "0000814242" "0000386611" "0000814243" "0000386612" "0000814244" "0000386618" "0000814252" "0000386618" "0000814253" "0000386619" "0000814255" "0000386619" "0000814256" "0000386798" "0000814533" "0000386833" "0000814588" "0000386858" "0000814643" "0000386859" "0000814644" "0000386859" "0000814645" "0000386860" "0000814646" "0000386860" "0000814647" "0000386861" "0000814648" "0000386861" "0000814649" "0000386862" "0000814650" "0000386862" "0000814651" "0000386863" "0000814652" "0000386863" "0000814653" "0000387168" "0000815042" "0000387169" "0000815043" "0000387170" "0000815044" "0000388712" "0000817459" "0000388713" "0000817460" "0000388714" "0000817461" "0000388715" "0000817462" "0000388716" "0000817463" "0000388716" "0000817464" "0000388717" "0000817465" "0000388717" "0000817466" "0000388718" "0000817467" "0000388718" "0000817468" "0000388719" "0000817469" "0000388804" "0000817562" "0000388805" "0000817563" "0000389543" "0000818635" "0000390039" "0000819384" "0000390039" "0000820630" "0000390089" "0000819434" "0000390089" "0000820645" "0000390093" "0000819438" "0000390093" "0000820646" "0000394922" "0000826016" "0000395216" "0000826455" "0000396270" "0000827839" "0000396276" "0000827845" "0000396278" "0000827847" "0000396286" "0000827855" "0000396853" "0000828552" "0000397856" "0000830066" "0000397856" "0000830067" "0000397858" "0000830068" "0000397858" "0000830069" "0000397860" "0000830070" "0000397860" "0000830071" "0000397862" "0000830072" "0000397862" "0000830073" "0000397864" "0000830074" "0000397864" "0000830075" "0000397866" "0000830076" "0000397866" "0000830077" "0000397868" "0000830078" "0000397868" "0000830079" "0000397870" "0000830080" "0000397870" "0000830081" "0000401038" "0000834081" "0000401038" "0000834141" "0000401039" "0000834082" "0000401039" "0000834142" "0000413822" "0000871367" "0000413823" "0000871368" "0000418807" "0000878674" "0000418808" "0000878675" "0000418809" "0000878676" "0000418810" "0000878677" "0000418811" "0000878678" "0000418812" "0000878679" "0000419126" "0000879048" "0000419982" "0000880210" "0000419983" "0000880211" "0000419984" "0000880212" "0000419986" "0000880215" "0000419986" "0000880216"