### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS4) # 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}}" "BBS4" "Bardet-Biedl syndrome 4" "15" "q22.3-q23" "unknown" "NG_009416.2" "UD_134408620093" "" "https://www.LOVD.nl/BBS4" "" "1" "969" "585" "600374" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BBS4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2018-03-23 15:12:21" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003290" "BBS4" "transcript variant 1" "003" "NM_033028.4" "" "NP_149017.2" "" "" "" "-49" "2449" "1560" "72978520" "73030817" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "04377" "BBS4" "Bardet-Biedl syndrome, type 4 (BBS-4)" "AR" "615982" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BBS4" "00139" "BBS4" "04377" ## Individuals ## Do not remove or alter this header ## ## Count = 141 "{{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}}" "00080932" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00155389" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00291295" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303623" "" "" "" "3" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 3 affected" "" "yes" "Iraq" "" "0" "" "" "" "Family_30" "00304479" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308965" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00308966" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308967" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00332187" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB319" "00333419" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD1–12" "00358806" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "32/3" "00358807" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR800-03" "00358808" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR400-03" "00358811" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR888-0311" "00358814" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR634-03" "00359028" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12009772" "00363430" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat6" "00363683" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0398" "00363736" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1032" "00363745" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG2246" "00379356" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "United Arab Emirates" "" "0" "" "" "" "" "00379357" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00380283" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380353" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00382217" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "46" "00383069" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383083" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383090" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383100" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383111" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383112" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "Gypsy" "" "00383132" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383194" "" "" "" "1" "" "00000" "{PMID:Bin-2009:19402160}" "" "F" "" "" "" "0" "" "" "Italian" "" "00383229" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383230" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383231" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383232" "" "" "" "5" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383233" "" "" "" "4" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "Algeria" "" "00383234" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "Turkish" "" "00383313" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383314" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383315" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383340" "" "" "" "1" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383342" "" "" "" "1" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383343" "" "" "" "7" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383344" "" "" "" "20" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383350" "" "" "" "1" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383351" "" "" "" "2" "" "00000" "{PMID:Hoskins-2003:12872256}" "substitution was detected in both an affected mother and her affected daughter." "" "" "" "" "0" "" "" "" "" "00383358" "" "" "" "1" "" "00000" "{PMID:Fauser-2003:12920096}" "" "" "no" "" "" "0" "" "" "European" "" "00383359" "" "" "" "1" "" "00000" "{PMID:Fauser-2003:12920096}" "" "" "no" "" "" "0" "" "" "European" "" "00383373" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Badano 2003" "one unaffected sibling and the unaffected mother of this BBS patient carry one mutant BBS2 allele and two mutant BBS4 alleles." "F" "" "" "" "0" "" "" "" "" "00383376" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Fauser 2003" "" "" "" "" "" "0" "" "" "" "" "00383377" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Fauser 2003" "" "" "" "" "" "0" "" "" "" "" "00383662" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "11" "00384671" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384672" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384673" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384674" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384727" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Pakistani" "" "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)" "" "00384780" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384781" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384782" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384783" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384799" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384800" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384803" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "no" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384812" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384818" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384819" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384820" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384839" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385253" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385283" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385301" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Italian" "" "00385318" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "No principal mutations." "M" "" "" "" "0" "" "" "Jamaican/Trinidadian" "" "00385320" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "English" "" "00385332" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "" "" "" "" "0" "" "" "white" "" "00385342" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "Polish" "" "00385343" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Irish" "" "00385350" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "white" "" "00385375" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "Danish/Dutch/Norwegian" "" "00385380" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "white" "" "00385588" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "KK44(A2884)-8" "00385596" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR348(A2848)-03" "00385938" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Fars" "" "00385946" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "yes" "" "" "0" "" "" "Fars" "" "00386883" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-814" "00387477" "" "" "" "2" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}, {PMID:Castro Sanchez 2015:26082521}" "2-generation family, 2 affected (brother/sister)" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "RP1032" "00387545" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387549" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387807" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700050" "00388494" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14017272" "00388526" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "no" "Japan" "" "0" "" "" "" "1" "00388568" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.041" "00388789" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 37, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "73" "00388808" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 45, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "92" "00388831" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 52, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "115" "00388838" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 55, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "122" "00388894" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 69, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "178" "00389728" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 488, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1012" "00392773" "" "" "" "1" "" "00000" "{PMID:Meng 2021:33777945}" "" "F" "no" "China" "" "0" "" "" "" "F6-II:1" "00395027" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K30" "00395028" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K32" "00395033" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K49" "00395037" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K74" "00395039" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K87" "00395043" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K132" "00395582" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1325" "00396567" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus ultra sound at 20 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396569" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 22 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396571" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus ultra sound at 14 gestation weeks" "?" "" "France" "" "0" "" "" "" "" "00396573" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 20 gestation weeks" "?" "" "France" "" "0" "" "" "" "" "00396575" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 26+4 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00407663" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-84" "00407676" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-8" "00407677" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-9" "00418338" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Bedouin consanguineous BBS family, described in {PMID:Carmi 1995:8588586}" "?" "yes" "" "" "0" "" "" "Bedouin" "?" "00418339" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "" "?" "yes" "" "" "0" "" "" "European" "?" "00418340" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "" "?" "yes" "" "" "0" "" "" "European" "?" "00418341" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Italian consanguineous BBS family, described in {PMID:Carmi 1995:8588586}" "M" "yes" "" "" "0" "" "" "Italian" "?" "00418342" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Italian consanguineous BBS family, described in {PMID:Carmi 1995:8588586}" "F" "yes" "" "" "0" "" "" "Italian" "?" "00418343" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Italian consanguineous BBS family, described in {PMID:Carmi 1995:8588586}" "M" "yes" "" "" "0" "" "" "Italian" "?" "00418344" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Italian consanguineous BBS family, described in {PMID:Carmi 1995:8588586}" "M" "yes" "" "" "0" "" "" "Italian" "?" "00418345" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Israeli Arab consanguineous BBS family" "M" "yes" "Israel" "" "0" "" "" "Arab" "?" "00418346" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "Israeli Arab consanguineous BBS family" "" "yes" "Israel" "" "0" "" "" "Arab" "?" "00418347" "" "" "" "1" "" "00000" "{PMID:Mykytyn 2001:11381270}" "small non-consanguineous BBS family" "" "no" "" "" "0" "" "" "" "?" "00418348" "" "" "" "1" "" "00000" "{PMID:Katsanis 2002:12016587}" "family KK021" "" "" "" "" "0" "" "" "Saudi Arabian" "KK021" "00418349" "" "" "" "1" "" "00000" "{PMID:Katsanis 2002:12016587}" "family PB043" "" "yes" "" "" "0" "" "" "Kurdish" "PB043" "00418350" "" "" "" "1" "" "00000" "{PMID:Katsanis 2002:12016587}" "family AR153" "" "" "" "" "0" "" "" "North American" "AR153" "00418351" "" "" "" "1" "" "00000" "{PMID:Katsanis 2002:12016587}" "family AR708" "" "" "" "" "0" "" "" "North American" "AR708" "00418352" "" "" "" "1" "" "00000" "{PMID:Katsanis 2002:12016587}" "family AR717" "" "" "" "" "0" "" "" "North American" "AR717" "00418353" "" "" "" "1" "" "00000" "{PMID:Wang 2011:22219648}" "family KKESH205, individual 7" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi Arabian" "KKESH205#7" "00418354" "" "" "" "1" "" "00000" "{PMID:Wang 2011:22219648}" "family KKESH205, individual 3" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi Arabian" "KKESH205#3" "00418355" "" "" "" "1" "" "00000" "{PMID:Wang 2011:22219648}" "family KKESH205, individual 4" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi Arabian" "KKESH205#4" "00418366" "" "" "" "1" "" "00000" "{PMID:Li 2014:25533820}" "Chinese Han family, proband" "F" "yes" "China" "" "0" "" "" "Chinese Han" "?" "00418659" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418660" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00426657" "" "" "" "1" "" "00000" "{PMID:Heon 2005:15690372}" "12 affected individuals from the family mapped to the BBS4 locus" "" "" "" "" "0" "" "" "" "?" "00426913" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 19, individual 21" "F" "" "" "" "0" "" "" "" "19_21" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 141 "{{individualid}}" "{{diseaseid}}" "00080932" "04377" "00155389" "04212" "00291295" "00198" "00303623" "00198" "00304479" "00198" "00308965" "04214" "00308966" "04214" "00308967" "04214" "00332187" "04214" "00333419" "04214" "00358806" "04212" "00358807" "04212" "00358808" "04212" "00358811" "04212" "00358814" "04212" "00359028" "04214" "00363430" "04214" "00363683" "04214" "00363736" "04214" "00363745" "04214" "00379356" "04214" "00379357" "04214" "00380283" "04214" "00380353" "04214" "00382217" "04214" "00383069" "04214" "00383083" "04214" "00383090" "04214" "00383100" "04214" "00383111" "04214" "00383112" "04214" "00383132" "04214" "00383194" "04214" "00383229" "04214" "00383230" "04214" "00383231" "04214" "00383232" "04214" "00383233" "04214" "00383234" "04214" "00383313" "04214" "00383314" "04214" "00383315" "04214" "00383340" "04214" "00383342" "04214" "00383343" "04214" "00383344" "04214" "00383350" "04214" "00383351" "04214" "00383358" "04214" "00383359" "04214" "00383373" "04214" "00383376" "04214" "00383377" "04214" "00383662" "04214" "00384671" "04214" "00384672" "04214" "00384673" "04214" "00384674" "04214" "00384727" "04214" "00384732" "04214" "00384733" "04214" "00384780" "04214" "00384781" "04214" "00384782" "04214" "00384783" "04214" "00384799" "04214" "00384800" "04214" "00384803" "04214" "00384812" "04214" "00384818" "04214" "00384819" "04214" "00384820" "04214" "00384839" "04214" "00385253" "04214" "00385283" "04214" "00385301" "04214" "00385318" "04214" "00385320" "04214" "00385332" "04214" "00385342" "04214" "00385343" "04214" "00385350" "04214" "00385375" "04214" "00385380" "04214" "00385588" "04214" "00385596" "04214" "00385938" "04214" "00385946" "04214" "00386883" "04214" "00387477" "04214" "00387545" "04214" "00387549" "04214" "00387807" "00139" "00388494" "04214" "00388526" "04214" "00388568" "04214" "00388789" "04214" "00388808" "04214" "00388831" "04214" "00388838" "04214" "00388894" "04214" "00389728" "04214" "00392773" "04214" "00395027" "04214" "00395028" "04214" "00395033" "04214" "00395037" "04214" "00395039" "04214" "00395043" "04214" "00395582" "04214" "00396567" "04214" "00396569" "04214" "00396571" "04214" "00396573" "04214" "00396575" "04214" "00407663" "04214" "00407676" "04214" "00407677" "04214" "00418338" "04212" "00418339" "04212" "00418340" "04212" "00418341" "04212" "00418342" "04212" "00418343" "04212" "00418344" "04212" "00418345" "04212" "00418346" "04212" "00418347" "04212" "00418348" "04212" "00418349" "04212" "00418350" "04212" "00418351" "04212" "00418352" "04212" "00418353" "04214" "00418354" "04214" "00418355" "04214" "00418366" "04212" "00418659" "04212" "00418660" "04212" "00426657" "04212" "00426913" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04212, 04214, 04377 ## Count = 137 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060501" "04377" "00080932" "01758" "Familial, autosomal recessive" "" "Bardet-Biedl syndrome 4 (OMIM:615982)" "" "" "" "" "" "" "" "" "" "" "" "0000127889" "04212" "00155389" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000230687" "00198" "00303623" "00006" "Familial, autosomal recessive" "" "see paper; ..., syndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "syndromic ID/DD" "" "0000234285" "04214" "00308965" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000234286" "04214" "00308966" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000234287" "04214" "00308967" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000250374" "04214" "00332187" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (BBS)" "" "0000251606" "04214" "00333419" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CRD" "" "0000254021" "04212" "00358806" "00000" "Unknown" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254022" "04212" "00358807" "00000" "Unknown" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254023" "04212" "00358808" "00000" "Unknown" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254026" "04212" "00358811" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254029" "04212" "00358814" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254325" "04214" "00359028" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000258791" "04214" "00363430" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000259033" "04214" "00363683" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259086" "04214" "00363736" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000259095" "04214" "00363745" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000273229" "04214" "00379356" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273230" "04214" "00379357" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000274134" "04214" "00380283" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274204" "04214" "00380353" "00000" "Familial, autosomal recessive" "4y6m" "Facial palsy,retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000276066" "04214" "00382217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276859" "04214" "00383069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276873" "04214" "00383083" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276880" "04214" "00383090" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276890" "04214" "00383100" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276901" "04214" "00383111" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276902" "04214" "00383112" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276922" "04214" "00383132" "00000" "Familial, autosomal recessive" "" "learning disability, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276981" "04214" "00383194" "00000" "Familial, autosomal recessive" "36y2m" "obesity, brachydactyly/clinodactyly/ polydactyly, severe cognitive impairment, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277016" "04214" "00383229" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277017" "04214" "00383230" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277018" "04214" "00383231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277019" "04214" "00383232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277020" "04214" "00383233" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277021" "04214" "00383234" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277098" "04214" "00383313" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277099" "04214" "00383314" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277100" "04214" "00383315" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277125" "04214" "00383340" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277127" "04214" "00383342" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277128" "04214" "00383343" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277129" "04214" "00383344" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277135" "04214" "00383350" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277136" "04214" "00383351" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277143" "04214" "00383358" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277144" "04214" "00383359" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277158" "04214" "00383373" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277161" "04214" "00383376" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277162" "04214" "00383377" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277447" "04214" "00383662" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000278454" "04214" "00384671" "00000" "Familial, autosomal recessive" "9y7m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278455" "04214" "00384672" "00000" "Familial, autosomal recessive" "12y4m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278456" "04214" "00384673" "00000" "Familial, autosomal recessive" "10y4m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278457" "04214" "00384674" "00000" "Familial, autosomal recessive" "6y1m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278510" "04214" "00384727" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "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)" "" "0000278563" "04214" "00384780" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278564" "04214" "00384781" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278565" "04214" "00384782" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278566" "04214" "00384783" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278582" "04214" "00384799" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, bicuspid aortic valve, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278583" "04214" "00384800" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278586" "04214" "00384803" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278595" "04214" "00384812" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278601" "04214" "00384818" "00000" "Familial, autosomal recessive" "" "obesity, learning disabilities, polydactyly, aopy, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278602" "04214" "00384819" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278603" "04214" "00384820" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278622" "04214" "00384839" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, deafness," "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000279049" "04214" "00385253" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279079" "04214" "00385283" "00000" "Familial, autosomal recessive" "4y6m" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, facial palsy" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279097" "04214" "00385301" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279114" "04214" "00385318" "00000" "Familial, autosomal recessive" "24y4m" "retinal dystrophy, weight anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver fx" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279116" "04214" "00385320" "00000" "Familial, autosomal recessive" "18y4m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hyperinsulinemia, Dislipidemia, Acanthosis nigricansLow set ears, Hypotonia, UTIs, Vocal cord cyst, Abnormal teeth" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279128" "04214" "00385332" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279138" "04214" "00385342" "00000" "Familial, autosomal recessive" "15y5m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Liver fx, Dislipidemia, HyperinsulinemiaHyperphagia, Hirschprung disease, Depression" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279139" "04214" "00385343" "00000" "Familial, autosomal recessive" "13y7m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHyperphagia, Vocal cord web, Sleep apnea" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279146" "04214" "00385350" "00000" "Familial, autosomal recessive" "40y4m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Scoliosis, Osteopenia, DislipidemiaCholelithiasis" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279171" "04214" "00385375" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "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)" "" "0000279383" "04214" "00385588" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, –" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279391" "04214" "00385596" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, postaxial polydactyly, obesity," "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279739" "04214" "00385938" "00000" "Familial, autosomal recessive" "" "obesity, rod–cone dystrophy, strabismus, Severe to profound learning disability, polydactyly hand, polydactyly feet,speech disorder, Hirschprung-syndrome, poor-coordination" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279747" "04214" "00385946" "00000" "Familial, autosomal recessive" "" "obesity, rod–cone dystrophy, night blindness, learning disability, polydactyly hand, polydactyly feet, Multiple-renal-cyst, hypogonadisma, Club-foot, behavioral-problem" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000280683" "04214" "00386883" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281040" "04214" "00387477" "00000" "Familial, autosomal recessive" "15y" "retinal dystrophy, obesity, polydactyly," "1y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281108" "04214" "00387545" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281112" "04214" "00387549" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281375" "00139" "00387807" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000282046" "04214" "00388494" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282067" "04214" "00388526" "00000" "Familial, autosomal recessive" "25y" "rod-cone dystrophy, obesity, polydactyly, mild pyelectasis with polycysts, hepatic fibrosis: mild splenomegaly, BMI: 26.7, Imperforate anus" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282108" "04214" "00388568" "00000" "Isolated (sporadic)" "" "Pretest syndrome" "" "10y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Malformative syndrome, suspicion of Bardet-" "" "0000282330" "04214" "00388789" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282349" "04214" "00388808" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282372" "04214" "00388831" "00000" "Familial, autosomal recessive" "11y" "age at genetic diagnosis mentioned" "" "6y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282379" "04214" "00388838" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282435" "04214" "00388894" "00000" "Isolated (sporadic)" "26y" "age at genetic diagnosis mentioned" "" "20y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283269" "04214" "00389728" "00000" "Familial, autosomal recessive" "26y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000286019" "04214" "00392773" "00000" "Familial, autosomal recessive" "13y" "BMI: 30, polydactyly, intellectual disability, ovarian cystno datano data, tooth abnormalities, short statureno data, blood sugar slightly elevatedno data, lipid levels slightly elevated–, best corrected visual acuity right/left eye: 0.1/0.15, fundus: optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: moderately decreased amplitude and delayed peak time, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography:" "3y" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000288227" "04214" "00395027" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288228" "04214" "00395028" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288233" "04214" "00395033" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288237" "04214" "00395037" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288239" "04214" "00395039" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288243" "04214" "00395043" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288780" "04214" "00395582" "00000" "Familial, autosomal recessive" "" "astigmatism, cone/cone-rod dystrophy, exotropia, myopia, nystagmus, obesity, intellectual disability, mild, postaxial foot and hand polydactyly, short stature, hydrometrocolpos, urogenital sinus anomaly" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl-like syndrome" "" "0000289728" "04214" "00396567" "00000" "Familial, autosomal recessive" "" "kidney abnormality, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289730" "04214" "00396569" "00000" "Familial, autosomal recessive" "" "Aortic stenosis, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289732" "04214" "00396571" "00000" "Familial, autosomal recessive" "" "polydactyly, syndactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289734" "04214" "00396573" "00000" "Familial, autosomal recessive" "" "kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, urinary system abnormality" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289736" "04214" "00396575" "00000" "Familial, autosomal recessive" "" "Bifid epiglottis, left ventricular septal defect, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, cns anomaly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000299810" "04214" "00407663" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 5.5, extra-renal manifestations: Leber congenital amaurosis, mental retardation, hepatic fibrosis" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299823" "04214" "00407676" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 3.2, extra-renal manifestations: optic nerve anomaly, attention deficit and hyperactivity disorder, aortic regurgitation" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299824" "04214" "00407677" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 5.2, extra-renal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000309707" "04212" "00418338" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309708" "04212" "00418339" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309709" "04212" "00418340" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309710" "04212" "00418341" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309711" "04212" "00418342" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309712" "04212" "00418343" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309713" "04212" "00418344" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309714" "04212" "00418345" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309715" "04212" "00418346" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309716" "04212" "00418347" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309717" "04212" "00418348" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309718" "04212" "00418349" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309719" "04212" "00418350" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309720" "04212" "00418351" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309721" "04212" "00418352" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309722" "04214" "00418353" "00000" "Familial, autosomal recessive" "" "whole family description: typical Leber congenital amaurosis: lack of electroretinogram, infantile nystagmus, and pigmentary retinopathy with a \"\"rubelliform\"\" appearance; several mild additional phenotypes - delayed walking (after age 2), slowness in learning speech (after age 3 and 4), mild facial dysmorphism with bilateral enophtha" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "" "0000309723" "04214" "00418354" "00000" "Familial, autosomal recessive" "" "whole family description: typical Leber congenital amaurosis: lack of electroretinogram, infantile nystagmus, and pigmentary retinopathy with a \"\"rubelliform\"\" appearance; several mild additional phenotypes - delayed walking (after age 2), slowness in learning speech (after age 3 and 4), mild facial dysmorphism with bilateral enophtha" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "" "0000309724" "04214" "00418355" "00000" "Familial, autosomal recessive" "" "whole family description: typical Leber congenital amaurosis: lack of electroretinogram, infantile nystagmus, and pigmentary retinopathy with a \"\"rubelliform\"\" appearance; several mild additional phenotypes - delayed walking (after age 2), slowness in learning speech (after age 3 and 4), mild facial dysmorphism with bilateral enophtha" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "" "0000309734" "04212" "00418366" "00000" "Familial, autosomal recessive" "04y" "visual problems during both day and night since early childhood; born full-term, no fetal distress; spoke at 14 months and walked at 18 months; estimate of intelligence was based on the proband\'s social performance; speech problems, uncooperative and irritable during routine examinations; learning difficulties; considered mentally retarded; best corrected visual acuity: 20/200 both eyes, refraction right / left eye: 11.0D /-10.50D; evidence of retinitis pigmentosa, including attenuation of the retinal vessels and waxy atrophy of the optic disc, appearing more severe in her right eye, few pigmentary deposits in the peripheral retina of either eye; retinal pigment epithelium mottling and choroidal sclerosis-type changes; spectral domain optical coherence tomography: structural damage in the maculae, including extensive thinning of the neuroretina, almost complete absence of inner/outer segment junctions (partially preserved in the fovea), and dystrophy of the RPE; weight: was 25 kg, height: 110 cm; trunity, body mass index (BMI) of 20.66 kg/m2, according to the obesity standards for children of corresponding age; dysmorphism with the surgical scars shown on both hands and right foot; ultrasonography and the functional tests for liver and kidneys: normal; father no signs of BBS except a surgical history of an extra digit removal from his right hand" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000317812" "04212" "00426657" "00000" "Familial, autosomal recessive" "" "whole family description: choroidal sclerosis-type changes and retinal pigment epithelium in younger patients (5y) with a transition to a decrease in visual acuity and bone spicule-like pigmentation in the older patients; vessel narrowing visible at 11y; cataracts not observed; significant intellectual impairment; 75% of affected individuals had uncorrected myopia (range: plano to 10.0D); changes in behavior (smiling and starting to draw and play spontaneously) observed when affected children were fitted with proper correction in a trial frame; 13y female also had an iris and chorioretinal coloboma, her corneal diameters normal (11.5 mm/12 mm) and refractive error right/left eye: 8.0D / 8.5D, otherwise healthy with no dysmorphic features or neurologic findings such as seizures or motor deficits; electroretinograms recorded from 11 affected individuals (5 to 27y), data from two children could not be evaluated due to noise artifact (5.5y and 15y); maximal b-wave amplitudes ranged from non-recordable (5 and 27y) to 117 uV (27y), with a mean amplitude of 55 uV (expected normal value is 550 uV); cone responses ranged from non-recordable (15y) to 23 uV (21y), with a mean of 10 uV (expected normal value is 176 uV) -no significant correlation of subject and electroretinogram amplitude; mixed rod-cone electroretinograms non-recordable in a 7-year-old child and were highest in amplitude in subjects 21y (70 uV DTL) and 27y (117 uV); two 27-year-old cousins had recordable electroretinograms (11 uV and 117 uV) but different visual acuities (light perception / hand motion; 6/18 (0.48 logMAR)); myopia present in 7 of 12 of affecteds; visual acuity improved with refraction in all cases except for one (4.0D, 21y); improvement assessed on the basis of change of behavior such as smiling and spontaneous drawing and playing when fitted with the appropriate correction; fundus changes included a combination of surface retinal wrinkling and mild bone spicule-like pigmentation;most often the retinal disease was sine pigmento" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000318051" "04214" "00426913" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "cone dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 141 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081044" "00080932" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156254" "00155389" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000292463" "00291295" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304751" "00303623" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305608" "00304479" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310110" "00308965" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310111" "00308966" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310112" "00308967" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000333407" "00332187" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000334644" "00333419" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000360036" "00358806" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360037" "00358807" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360038" "00358808" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360041" "00358811" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360044" "00358814" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360266" "00359028" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000364658" "00363430" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364911" "00363683" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364964" "00363736" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364973" "00363745" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000380556" "00379356" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380557" "00379357" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000381497" "00380283" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381567" "00380353" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000383431" "00382217" "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" "0000384293" "00383069" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384307" "00383083" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384314" "00383090" "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" "" "0000384335" "00383111" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384336" "00383112" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384356" "00383132" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384418" "00383194" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000384453" "00383229" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384454" "00383230" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384455" "00383231" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384456" "00383232" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384457" "00383233" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384458" "00383234" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384537" "00383313" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384538" "00383314" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384539" "00383315" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384564" "00383340" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384566" "00383342" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384567" "00383343" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384568" "00383344" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384574" "00383350" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384575" "00383351" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384582" "00383358" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384583" "00383359" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384597" "00383373" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384600" "00383376" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384601" "00383377" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384887" "00383662" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000385897" "00384671" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385898" "00384672" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385899" "00384673" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385900" "00384674" "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" "" "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" "" "0000386006" "00384780" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386007" "00384781" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386008" "00384782" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386009" "00384783" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386025" "00384799" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386026" "00384800" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386029" "00384803" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386038" "00384812" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386044" "00384818" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386045" "00384819" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386046" "00384820" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386065" "00384839" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386482" "00385253" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386512" "00385283" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386530" "00385301" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386547" "00385318" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386549" "00385320" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386561" "00385332" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386571" "00385342" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386572" "00385343" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386579" "00385350" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386604" "00385375" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386609" "00385380" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000386817" "00385588" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386825" "00385596" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "HD" "DNA" "" "" "0000387166" "00385938" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387174" "00385946" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000388111" "00386883" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388703" "00387477" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388771" "00387545" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388775" "00387549" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000389038" "00387807" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389735" "00388494" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389768" "00388526" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389810" "00388568" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390032" "00388789" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390051" "00388808" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390074" "00388831" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390081" "00388838" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390137" "00388894" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390971" "00389728" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000394020" "00392773" "1" "00000" "03840" "2021-11-24 15:01:28" "" "" "SEQ-NG-I" "DNA" "blood" "131 known inherited retinal disease genes" "0000396273" "00395027" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396274" "00395028" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396279" "00395033" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396283" "00395037" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396285" "00395039" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396289" "00395043" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396820" "00395582" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397810" "00396567" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397812" "00396569" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397814" "00396571" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397816" "00396573" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397818" "00396575" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000408915" "00407663" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408928" "00407676" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408929" "00407677" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000419633" "00418338" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419634" "00418339" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419635" "00418340" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419636" "00418341" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419637" "00418342" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419638" "00418343" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419639" "00418344" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419640" "00418345" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419641" "00418346" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419642" "00418347" "1" "00000" "03840" "2022-09-28 15:29:06" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000419643" "00418348" "1" "00000" "03840" "2022-09-28 16:46:28" "" "" "STR;SEQ" "DNA" "blood" "" "0000419644" "00418349" "1" "00000" "03840" "2022-09-28 16:46:28" "" "" "STR;SEQ" "DNA" "blood" "" "0000419645" "00418350" "1" "00000" "03840" "2022-09-28 16:46:28" "" "" "STR;SEQ" "DNA" "blood" "" "0000419646" "00418351" "1" "00000" "03840" "2022-09-28 16:46:28" "" "" "STR;SEQ" "DNA" "blood" "" "0000419647" "00418352" "1" "00000" "03840" "2022-09-28 16:46:28" "" "" "STR;SEQ" "DNA" "blood" "" "0000419648" "00418353" "1" "00000" "03840" "2022-09-28 18:16:57" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole exome capture sequencing" "0000419649" "00418354" "1" "00000" "03840" "2022-09-28 18:16:57" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole exome capture sequencing" "0000419650" "00418355" "1" "00000" "03840" "2022-09-28 18:16:57" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole exome capture sequencing" "0000419661" "00418366" "1" "00000" "03840" "2022-09-28 22:22:33" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole exome capture sequencing" "0000419953" "00418659" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419954" "00418660" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000427977" "00426657" "1" "00000" "03840" "2022-12-02 13:36:51" "" "" "?" "DNA" "" "" "0000428233" "00426913" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 173 "{{screeningid}}" "{{geneid}}" "0000081044" "BBS4" "0000156254" "BBS4" "0000304751" "BBS4" "0000310110" "BBS4" "0000310111" "BBS4" "0000310112" "BBS4" "0000360036" "BBS4" "0000360037" "BBS2" "0000360037" "BBS4" "0000360037" "MKKS" "0000360038" "ALMS1" "0000360038" "BBS4" "0000360038" "BBS9" "0000360041" "BBS1" "0000360041" "BBS4" "0000360041" "BBS5" "0000360041" "BBS7" "0000360041" "NPHP1" "0000360044" "BBS4" "0000360044" "BBS7" "0000360044" "IFT74" "0000364658" "BBS4" "0000364911" "BBS4" "0000364964" "BBS4" "0000364973" "BBS4" "0000380556" "ARL6" "0000380556" "BBS1" "0000380556" "BBS10" "0000380556" "BBS12" "0000380556" "BBS2" "0000380556" "BBS4" "0000380556" "BBS5" "0000380556" "BBS7" "0000380556" "BBS9" "0000380556" "MKKS" "0000380556" "TRIM32" "0000380556" "TTC8" "0000380557" "ARL6" "0000380557" "BBS1" "0000380557" "BBS10" "0000380557" "BBS12" "0000380557" "BBS2" "0000380557" "BBS4" "0000380557" "BBS5" "0000380557" "BBS7" "0000380557" "BBS9" "0000380557" "MKKS" "0000380557" "TRIM32" "0000380557" "TTC8" "0000381497" "BBS4" "0000381567" "BBS4" "0000383431" "BBS4" "0000384293" "BBS12" "0000384307" "BBS4" "0000384314" "BBS4" "0000384324" "BBS12" "0000384335" "BBS4" "0000384336" "BBS4" "0000384356" "BBS4" "0000384418" "BBS1" "0000384418" "BBS4" "0000384418" "BBS7" "0000384418" "TTC8" "0000384453" "BBS4" "0000384454" "BBS4" "0000384455" "BBS4" "0000384456" "BBS4" "0000384457" "BBS4" "0000384458" "BBS4" "0000384537" "BBS4" "0000384538" "BBS4" "0000384539" "BBS4" "0000384564" "BBS4" "0000384566" "BBS4" "0000384567" "BBS4" "0000384568" "BBS4" "0000384574" "BBS4" "0000384575" "BBS4" "0000384582" "BBS2" "0000384583" "BBS2" "0000384597" "BBS4" "0000384600" "BBS2" "0000384601" "BBS2" "0000384887" "BBS4" "0000385897" "BBS4" "0000385898" "BBS4" "0000385899" "BBS4" "0000385900" "BBS4" "0000385953" "BBS12" "0000385958" "BBS12" "0000385959" "BBS12" "0000386006" "BBS4" "0000386007" "BBS4" "0000386008" "BBS4" "0000386009" "BBS4" "0000386025" "BBS4" "0000386026" "BBS4" "0000386029" "BBS1" "0000386038" "BBS4" "0000386044" "BBS1" "0000386045" "BBS4" "0000386046" "ARL6" "0000386065" "BBS4" "0000386482" "BBS4" "0000386512" "BBS4" "0000386530" "BBS4" "0000386547" "BBS4" "0000386549" "BBS1" "0000386561" "BBS4" "0000386571" "BBS4" "0000386572" "BBS4" "0000386579" "BBS7" "0000386604" "BBS4" "0000386609" "BBS4" "0000386817" "BBS4" "0000386825" "BBS4" "0000387166" "BBS4" "0000387174" "BBS4" "0000388111" "BBS4" "0000388703" "BBS1" "0000388703" "BBS10" "0000388703" "BBS12" "0000388771" "BBS4" "0000388775" "BBS4" "0000389038" "BBS4" "0000389735" "BBS4" "0000389768" "BBS1" "0000389810" "BBS4" "0000390032" "BBS4" "0000390051" "BBS4" "0000390074" "BBS4" "0000390081" "BBS4" "0000390137" "BBS4" "0000390971" "BBS4" "0000394020" "BBS4" "0000396273" "BBS4" "0000396274" "BBS4" "0000396279" "BBS4" "0000396283" "BBS4" "0000396285" "BBS9" "0000396289" "BBS4" "0000396820" "BBS4" "0000397810" "BBS4" "0000397812" "BBS4" "0000397814" "BBS4" "0000397816" "BBS4" "0000397818" "BBS4" "0000408915" "BBS4" "0000408928" "BBS4" "0000408929" "BBS4" "0000419633" "BBS4" "0000419634" "BBS4" "0000419635" "BBS4" "0000419636" "BBS4" "0000419637" "BBS4" "0000419638" "BBS4" "0000419639" "BBS4" "0000419640" "BBS4" "0000419641" "BBS4" "0000419642" "BBS4" "0000419643" "BBS4" "0000419644" "BBS4" "0000419645" "BBS4" "0000419646" "BBS4" "0000419647" "BBS4" "0000419648" "BBS4" "0000419649" "BBS4" "0000419650" "BBS4" "0000419661" "BBS4" "0000419953" "BBS4" "0000419954" "BBS4" "0000427977" "BBS4" "0000428233" "KCNV2" ## 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 = 243 "{{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}}" "0000130130" "3" "90" "15" "73004583" "73004583" "subst" "4.06785E-6" "01758" "BBS4_000002" "g.73004583A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.72712242A>G" "" "pathogenic" "ACMG" "0000247306" "0" "10" "15" "73028295" "73028295" "subst" "0.0016573" "02330" "BBS4_000031" "g.73028295A>T" "" "" "" "BBS4(NM_033028.4):c.1236A>T (p.E412D), BBS4(NM_033028.5):c.1236A>T (p.E412D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735954A>T" "" "benign" "" "0000247353" "0" "50" "15" "73015187" "73015187" "subst" "0" "02330" "BBS4_000017" "g.73015187A>G" "" "" "" "BBS4(NM_033028.5):c.458A>G (p.K153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72722846A>G" "" "VUS" "" "0000248249" "0" "30" "15" "73002101" "73002101" "subst" "0.00689212" "02325" "BBS4_000009" "g.73002101A>G" "" "" "" "BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72709760A>G" "" "likely benign" "" "0000250788" "0" "30" "15" "73028295" "73028295" "subst" "0.0016573" "02326" "BBS4_000031" "g.73028295A>T" "" "" "" "BBS4(NM_033028.4):c.1236A>T (p.E412D), BBS4(NM_033028.5):c.1236A>T (p.E412D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735954A>T" "" "likely benign" "" "0000251585" "0" "10" "15" "72996815" "72996815" "subst" "0.00458745" "02326" "BBS4_000007" "g.72996815A>G" "" "" "" "BBS4(NM_033028.4):c.77-5226A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72704474A>G" "" "benign" "" "0000251686" "0" "30" "15" "73002101" "73002101" "subst" "0.00689212" "02326" "BBS4_000009" "g.73002101A>G" "" "" "" "BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72709760A>G" "" "likely benign" "" "0000251926" "0" "30" "15" "73029268" "73029268" "subst" "0.000633976" "02326" "BBS4_000026" "g.73029268A>G" "" "" "" "BBS4(NM_001252678.1):c.898A>G (p.(Met300Val)), BBS4(NM_033028.4):c.1414A>G (p.M472V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72736927A>G" "" "likely benign" "" "0000254007" "0" "30" "15" "73028295" "73028295" "subst" "0.0016573" "01943" "BBS4_000031" "g.73028295A>T" "" "" "" "BBS4(NM_033028.4):c.1236A>T (p.E412D), BBS4(NM_033028.5):c.1236A>T (p.E412D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735954A>T" "" "likely benign" "" "0000254080" "0" "30" "15" "73004566" "73004566" "subst" "0.000130681" "01943" "BBS4_000010" "g.73004566A>G" "" "" "" "BBS4(NM_033028.4):c.157-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72712225A>G" "" "likely benign" "" "0000254256" "0" "30" "15" "73004608" "73004608" "subst" "0.00208416" "01943" "BBS4_000011" "g.73004608A>G" "" "" "" "BBS4(NM_033028.4):c.180A>G (p.Q60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72712267A>G" "" "likely benign" "" "0000258601" "0" "50" "15" "73029154" "73029154" "subst" "0" "02330" "BBS4_000032" "g.73029154C>A" "" "" "" "BBS4(NM_033028.5):c.1300C>A (p.L434M, p.(Leu434Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72736813C>A" "" "VUS" "" "0000258602" "0" "10" "15" "73029850" "73029850" "subst" "0" "02330" "BBS4_000033" "g.73029850C>A" "" "" "" "BBS4(NM_033028.4):c.1482C>A (p.P494=), BBS4(NM_033028.5):c.1482C>A (p.P494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72737509C>A" "" "benign" "" "0000258603" "0" "30" "15" "73029879" "73029879" "subst" "0.000147628" "02330" "BBS4_000035" "g.73029879C>T" "" "" "" "BBS4(NM_033028.5):c.1511C>T (p.A504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72737538C>T" "" "likely benign" "" "0000258604" "0" "10" "15" "73009158" "73009158" "subst" "0.000165037" "02330" "BBS4_000015" "g.73009158T>C" "" "" "" "BBS4(NM_033028.4):c.372T>C (p.Y124=), BBS4(NM_033028.5):c.372T>C (p.Y124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72716817T>C" "" "benign" "" "0000258605" "0" "10" "15" "73023682" "73023682" "subst" "0.00103547" "02330" "BBS4_000021" "g.73023682G>A" "" "" "" "BBS4(NM_033028.4):c.748G>A (p.G250R), BBS4(NM_033028.5):c.748G>A (p.G250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72731341G>A" "" "benign" "" "0000259232" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "02325" "BBS4_000024" "g.73027478T>C" "" "" "" "BBS4(NM_033028.4):c.1061T>C (p.I354T), BBS4(NM_033028.5):c.1061T>C (p.I354T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735137T>C" "" "benign" "" "0000259233" "0" "10" "15" "72987588" "72987588" "subst" "0.986847" "02325" "BBS4_000005" "g.72987588G>T" "" "" "" "BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72695247G>T" "" "benign" "" "0000259234" "0" "10" "15" "73002035" "73002035" "subst" "0.986904" "02325" "BBS4_000008" "g.73002035G>A" "" "" "" "BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72709694G>A" "" "benign" "" "0000259235" "0" "10" "15" "73023937" "73023937" "subst" "0.990234" "02325" "BBS4_000023" "g.73023937T>C" "" "" "" "BBS4(NM_033028.4):c.906T>C (p.F302=), BBS4(NM_033028.5):c.906T>C (p.F302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72731596T>C" "" "benign" "" "0000260358" "0" "90" "15" "73023711" "73023712" "del" "0" "02329" "BBS4_000022" "g.73023711_73023712del" "" "" "" "BBS4(NM_033028.4):c.777_778delCA (p.Y259*), BBS4(NM_033028.5):c.777_778delCA (p.Y259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72731370_72731371del" "" "pathogenic" "" "0000261411" "0" "30" "15" "73007751" "73007751" "subst" "4.07E-6" "02326" "BBS4_000014" "g.73007751T>C" "" "" "" "BBS4(NM_033028.4):c.332+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72715410T>C" "" "likely benign" "" "0000261412" "0" "10" "15" "72996605" "72996605" "subst" "0" "02326" "BBS4_000006" "g.72996605G>A" "" "" "" "BBS4(NM_033028.4):c.77-5436G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72704264G>A" "" "benign" "" "0000261413" "0" "90" "15" "73023711" "73023712" "del" "0" "02326" "BBS4_000022" "g.73023711_73023712del" "" "" "" "BBS4(NM_033028.4):c.777_778delCA (p.Y259*), BBS4(NM_033028.5):c.777_778delCA (p.Y259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72731370_72731371del" "" "pathogenic" "" "0000263582" "0" "10" "15" "72978552" "72978552" "subst" "0.0681336" "01943" "BBS4_000003" "g.72978552C>T" "" "" "" "BBS4(NM_033028.4):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72686211C>T" "" "benign" "" "0000263583" "0" "10" "15" "73029929" "73029929" "subst" "0.00252898" "01943" "BBS4_000036" "g.73029929G>C" "" "" "" "BBS4(NM_033028.4):c.*1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72737588G>C" "" "benign" "" "0000263584" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "01943" "BBS4_000024" "g.73027478T>C" "" "" "" "BBS4(NM_033028.4):c.1061T>C (p.I354T), BBS4(NM_033028.5):c.1061T>C (p.I354T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735137T>C" "" "benign" "" "0000263585" "0" "50" "15" "73027508" "73027508" "subst" "0" "01943" "BBS4_000025" "g.73027508C>A" "" "" "" "BBS4(NM_033028.4):c.1091C>A (p.A364E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735167C>A" "" "VUS" "" "0000263586" "0" "90" "15" "73029861" "73029861" "del" "0" "01943" "BBS4_000034" "g.73029861del" "" "" "" "BBS4(NM_033028.4):c.1493delC (p.P498Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72737520del" "" "pathogenic" "" "0000263587" "0" "10" "15" "73009208" "73009208" "subst" "0.044004" "01943" "BBS4_000016" "g.73009208C>T" "" "" "" "BBS4(NM_033028.4):c.405+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72716867C>T" "" "benign" "" "0000263588" "0" "10" "15" "73015202" "73015202" "subst" "0.000240643" "01943" "BBS4_000018" "g.73015202G>C" "" "" "" "BBS4(NM_033028.4):c.459+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72722861G>C" "" "benign" "" "0000263589" "0" "10" "15" "72987588" "72987588" "subst" "0.986847" "01943" "BBS4_000005" "g.72987588G>T" "" "" "" "BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72695247G>T" "" "benign" "" "0000263590" "0" "10" "15" "73002035" "73002035" "subst" "0.986904" "01943" "BBS4_000008" "g.73002035G>A" "" "" "" "BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72709694G>A" "" "benign" "" "0000263591" "0" "10" "15" "73023937" "73023937" "subst" "0.990234" "01943" "BBS4_000023" "g.73023937T>C" "" "" "" "BBS4(NM_033028.4):c.906T>C (p.F302=), BBS4(NM_033028.5):c.906T>C (p.F302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72731596T>C" "" "benign" "" "0000324180" "0" "30" "15" "72978600" "72978600" "subst" "0.00119652" "01804" "BBS4_000004" "g.72978600C>T" "" "" "" "BBS4(NM_001252678.1):c.-446+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72686259C>T" "" "likely benign" "" "0000324182" "0" "50" "15" "73007700" "73007700" "subst" "0" "01804" "BBS4_000013" "g.73007700A>C" "" "" "" "BBS4(NM_001252678.1):c.-233A>C (p.(=)), BBS4(NM_033028.5):c.289A>C (p.S97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72715359A>C" "" "VUS" "" "0000324184" "0" "50" "15" "73029268" "73029268" "subst" "0.000633976" "01804" "BBS4_000026" "g.73029268A>G" "" "" "" "BBS4(NM_001252678.1):c.898A>G (p.(Met300Val)), BBS4(NM_033028.4):c.1414A>G (p.M472V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72736927A>G" "" "VUS" "" "0000324185" "0" "50" "15" "73029831" "73029831" "subst" "0.000521955" "01804" "BBS4_000053" "g.73029831C>A" "" "" "" "BBS4(NM_001252678.1):c.947C>A (p.(Thr316Lys)), BBS4(NM_033028.4):c.1463C>A (p.T488K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72737490C>A" "" "VUS" "" "0000338667" "0" "10" "15" "72978531" "72978531" "subst" "0.0456426" "02327" "BBS4_000027" "g.72978531C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72686190C>A" "" "benign" "" "0000338668" "0" "10" "15" "72978552" "72978552" "subst" "0.0681336" "02327" "BBS4_000003" "g.72978552C>T" "" "" "" "BBS4(NM_033028.4):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72686211C>T" "" "benign" "" "0000338669" "0" "90" "15" "72987513" "72987513" "subst" "0" "02327" "BBS4_000028" "g.72987513T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72695172T>C" "" "pathogenic" "" "0000338670" "0" "10" "15" "72987588" "72987588" "subst" "0.986847" "02327" "BBS4_000005" "g.72987588G>T" "" "" "" "BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72695247G>T" "" "benign" "" "0000341398" "0" "90" "15" "73027508" "73027508" "subst" "0" "02327" "BBS4_000025" "g.73027508C>A" "" "" "" "BBS4(NM_033028.4):c.1091C>A (p.A364E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735167C>A" "" "pathogenic" "" "0000350056" "0" "90" "15" "73027500" "73027500" "subst" "4.06194E-6" "02327" "BBS4_000029" "g.73027500C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72735159C>A" "" "pathogenic" "" "0000358176" "3" "90" "15" "73002040" "73004649" "del" "0" "01243" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "Sharon, submitted" "" "ex 3-4del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000555337" "0" "70" "15" "72978578" "72978578" "subst" "0" "02329" "BBS4_000037" "g.72978578G>T" "" "" "" "BBS4(NM_033028.5):c.10G>T (p.E4*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72686237G>T" "" "likely pathogenic" "" "0000555339" "0" "30" "15" "73007634" "73007634" "subst" "0" "01804" "BBS4_000039" "g.73007634T>C" "" "" "" "BBS4(NM_001252678.1):c.-299T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72715293T>C" "" "likely benign" "" "0000555340" "0" "30" "15" "73007686" "73007686" "subst" "1.21873E-5" "01943" "BBS4_000040" "g.73007686C>T" "" "" "" "BBS4(NM_033028.4):c.275C>T (p.T92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72715345C>T" "" "likely benign" "" "0000555341" "0" "50" "15" "73007700" "73007700" "subst" "0" "02330" "BBS4_000013" "g.73007700A>C" "" "" "" "BBS4(NM_001252678.1):c.-233A>C (p.(=)), BBS4(NM_033028.5):c.289A>C (p.S97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72715359A>C" "" "VUS" "" "0000555342" "0" "30" "15" "73007740" "73007740" "subst" "4.06722E-5" "01804" "BBS4_000041" "g.73007740C>G" "" "" "" "BBS4(NM_001252678.1):c.-193C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72715399C>G" "" "likely benign" "" "0000555343" "0" "30" "15" "73009158" "73009158" "subst" "0.000165037" "01943" "BBS4_000015" "g.73009158T>C" "" "" "" "BBS4(NM_033028.4):c.372T>C (p.Y124=), BBS4(NM_033028.5):c.372T>C (p.Y124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72716817T>C" "" "likely benign" "" "0000555344" "0" "50" "15" "73015172" "73015172" "subst" "2.03336E-5" "02330" "BBS4_000042" "g.73015172T>A" "" "" "" "BBS4(NM_033028.5):c.443T>A (p.L148Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72722831T>A" "" "VUS" "" "0000555345" "0" "30" "15" "73020272" "73020272" "subst" "1.21878E-5" "01943" "BBS4_000019" "g.73020272A>G" "" "" "" "BBS4(NM_033028.4):c.588-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72727931A>G" "" "likely benign" "" "0000555346" "0" "50" "15" "73023797" "73023797" "subst" "4.06068E-6" "02330" "BBS4_000043" "g.73023797C>T" "" "" "" "BBS4(NM_033028.5):c.863C>T (p.A288V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72731456C>T" "" "VUS" "" "0000555347" "0" "30" "15" "73024018" "73024018" "subst" "0" "01943" "BBS4_000044" "g.73024018G>A" "" "" "" "BBS4(NM_033028.4):c.987G>A (p.A329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72731677G>A" "" "likely benign" "" "0000555348" "0" "10" "15" "73027466" "73027466" "subst" "0.000251816" "02326" "BBS4_000045" "g.73027466A>G" "" "" "" "BBS4(NM_033028.4):c.1049A>G (p.N350S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72735125A>G" "" "benign" "" "0000555349" "0" "10" "15" "73027543" "73027543" "subst" "0.0107236" "01943" "BBS4_000046" "g.73027543T>C" "" "" "" "BBS4(NM_033028.4):c.1106+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72735202T>C" "" "benign" "" "0000555351" "0" "30" "15" "73028195" "73028195" "subst" "0.000243653" "01804" "BBS4_000047" "g.73028195C>T" "" "" "" "BBS4(NM_001252678.1):c.620C>T (p.(Ala207Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72735854C>T" "" "likely benign" "" "0000555354" "0" "30" "15" "73029293" "73029293" "subst" "3.25418E-5" "02330" "BBS4_000051" "g.73029293C>T" "" "" "" "BBS4(NM_033028.5):c.1439C>T (p.T480M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72736952C>T" "" "likely benign" "" "0000555355" "0" "50" "15" "73029819" "73029819" "subst" "0" "02330" "BBS4_000052" "g.73029819G>A" "" "" "" "BBS4(NM_033028.4):c.1451G>A (p.G484D), BBS4(NM_033028.5):c.1451G>A (p.G484D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72737478G>A" "" "VUS" "" "0000555356" "0" "30" "15" "73029916" "73029917" "del" "0.000328571" "02330" "BBS4_000054" "g.73029916_73029917del" "" "" "" "BBS4(NM_033028.5):c.1548_1549delAA (p.I516Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72737575_72737576del" "" "likely benign" "" "0000615492" "0" "90" "15" "73009192" "73009192" "subst" "0" "02327" "BBS4_000055" "g.73009192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72716851G>A" "" "pathogenic" "" "0000615493" "0" "50" "15" "73029819" "73029819" "subst" "0" "02325" "BBS4_000052" "g.73029819G>A" "" "" "" "BBS4(NM_033028.4):c.1451G>A (p.G484D), BBS4(NM_033028.5):c.1451G>A (p.G484D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72737478G>A" "" "VUS" "" "0000615494" "0" "30" "15" "73029850" "73029850" "subst" "0" "02325" "BBS4_000033" "g.73029850C>A" "" "" "" "BBS4(NM_033028.4):c.1482C>A (p.P494=), BBS4(NM_033028.5):c.1482C>A (p.P494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72737509C>A" "" "likely benign" "" "0000649152" "1" "50" "15" "73002101" "73002101" "subst" "0.00689212" "03575" "BBS4_000009" "g.73002101A>G" "8/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs75295839}" "Germline" "" "rs75295839" "0" "" "" "g.72709760A>G" "" "VUS" "" "0000668255" "3" "90" "15" "73004582" "73004582" "subst" "0" "00006" "BBS4_000056" "g.73004582C>G" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "" "Germline" "" "" "0" "" "" "g.72712241C>G" "" "pathogenic (recessive)" "" "0000669296" "3" "10" "15" "73009208" "73009208" "subst" "0.044004" "03575" "BBS4_000016" "g.73009208C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs80334351}" "Germline" "" "rs80334351" "0" "" "" "g.72716867C>T" "" "benign" "" "0000680269" "0" "90" "15" "73023914" "73023914" "subst" "4.06075E-6" "02327" "BBS4_000057" "g.73023914C>T" "" "" "" "BBS4(NM_033028.4):c.883C>T (p.R295*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000685021" "0" "90" "15" "73000565" "73014826" "del" "0" "00004" "BBS4_000058" "g.73000565_73014826del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685022" "0" "70" "15" "73015153" "73015153" "subst" "0" "00004" "BBS4_000059" "g.73015153G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685023" "0" "90" "15" "73023915" "73023915" "subst" "4.06072E-6" "00004" "BBS4_000060" "g.73023915G>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000725287" "0" "90" "15" "73004583" "73004583" "subst" "4.06785E-6" "02329" "BBS4_000002" "g.73004583A>G" "" "" "" "BBS4(NM_033028.5):c.157-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725288" "0" "30" "15" "73029294" "73029294" "subst" "0.000231932" "01943" "BBS4_000061" "g.73029294G>A" "" "" "" "BBS4(NM_033028.4):c.1440G>A (p.T480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730981" "1" "70" "15" "73016923" "73016923" "dup" "0" "00000" "BBS4_000062" "g.73016923dup" "" "{PMID:Bryant 2018:29343940}" "" "513_514insA" "" "Germline" "" "rs779047261" "0" "" "" "g.72724582dup" "" "likely pathogenic (recessive)" "" "0000731034" "2" "70" "15" "73023914" "73023914" "subst" "0" "00000" "BBS4_000063" "g.73023914C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.72731573C>G" "" "likely pathogenic (recessive)" "" "0000732598" "0" "90" "15" "73029229" "73029229" "subst" "0" "00000" "BBS4_000064" "g.73029229C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.72736888C>T" "" "pathogenic" "" "0000759686" "3" "90" "15" "73000587" "73006846" "del" "0" "00000" "BBS4_000066" "g.73000587_73006846del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon3_4 73000565-73006826del" "6,261 bp deletion, AluSc8 - AluSx" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759687" "3" "90" "15" "73006570" "73014288" "del" "0" "00000" "BBS4_000065" "g.73006570_73014288del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon5_6 73006570-73014289del" "7,719 bp deletion, 1 bp microhomology" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759688" "3" "90" "15" "73006597" "73012120" "del" "0" "00000" "BBS4_000067" "g.73006597_73012120del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon5_6 73006584-73012788del" "6,204 bp deletion, AluSx - AluSg" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759708" "11" "50" "15" "73015168" "73015168" "subst" "8.1318E-6" "00000" "BBS4_000068" "g.73015168T>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.72722827T>A" "" "VUS" "" "0000759716" "21" "50" "15" "73002101" "73002101" "subst" "0.00689212" "00000" "BBS4_000009" "g.73002101A>G" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.72709760A>G" "" "VUS" "" "0000760158" "3" "50" "15" "73023645" "73023645" "subst" "1.21828E-5" "00000" "BBS4_000069" "g.73023645G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.72731304G>A" "" "VUS" "" "0000765533" "3" "90" "15" "73015133" "73015133" "subst" "0" "00000" "BBS4_000071" "g.73015133A>G" "" "{PMID:Ece Solmaz 2015:26518167}" "" "" "" "Germline" "" "" "0" "" "" "g.72722792A>G" "" "pathogenic (recessive)" "" "0000765853" "1" "70" "15" "73029165" "73029166" "ins" "0" "00000" "BBS4_000072" "g.73029165_73029166insT" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.72736824_72736825insT" "" "likely pathogenic" "" "0000765906" "0" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.72712242A>G" "" "likely pathogenic" "" "0000765915" "0" "70" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.72735167C>A" "" "likely pathogenic" "" "0000765930" "2" "70" "15" "73007673" "73007673" "del" "0" "00000" "BBS4_000070" "g.73007673del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.72715332del" "" "likely pathogenic" "" "0000793699" "3" "90" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "IVS3-2a/g" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793700" "3" "90" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "IVS3-3c/g" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794958" "3" "50" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.157-2A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795031" "3" "90" "15" "73004584" "73009192" "del" "0" "00000" "BBS4_000073" "g.73004584_73009192del" "" "{PMID:M\'hamdi 2014:23432027}" "" "Deletion Ex4-5-6" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797523" "3" "90" "15" "73027525" "73027525" "subst" "0" "00000" "BBS4_000074" "g.73027525T>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS4 c.1106+2T>A, p.(?), c.1106+2T>A, p.(?), ABCA4 c.5882G>A, p.(Gly1961Glu)" "homozygous" "Germline" "?" "" "0" "" "" "g.72735184T>A" "" "pathogenic" "ACMG" "0000806896" "0" "50" "15" "73016923" "73016923" "subst" "9.7473E-5" "01943" "BBS4_000075" "g.73016923A>G" "" "" "" "BBS4(NM_033028.4):c.514A>G (p.I172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806897" "0" "50" "15" "73029819" "73029819" "subst" "0" "01943" "BBS4_000052" "g.73029819G>A" "" "" "" "BBS4(NM_033028.4):c.1451G>A (p.G484D), BBS4(NM_033028.5):c.1451G>A (p.G484D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806898" "0" "30" "15" "73029850" "73029850" "subst" "0" "01943" "BBS4_000033" "g.73029850C>A" "" "" "" "BBS4(NM_033028.4):c.1482C>A (p.P494=), BBS4(NM_033028.5):c.1482C>A (p.P494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810876" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "00000" "BBS4_000024" "g.73027478T>C" "0.45" "{PMID:Anasagasti-2013:24416769}" "" "p.Ile354Thr" "" "Germline" "yes" "rs2277598" "0" "" "" "" "" "benign (recessive)" "" "0000810908" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "00000" "BBS4_000024" "g.73027478T>C" "0.45" "{PMID:Anasagasti-2013:24416769}" "" "p.Ile354Thr" "" "Germline" "yes" "rs2277598" "0" "" "" "" "" "benign (recessive)" "" "0000810909" "0" "30" "15" "73002101" "73002101" "subst" "0.00689212" "00000" "BBS4_000009" "g.73002101A>G" "<0.01" "{PMID:Anasagasti-2013:24416769}" "" "p.Lys46Arg" "" "Germline" "yes" "rs75295839" "0" "" "" "" "" "likely benign (recessive)" "" "0000810920" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "00000" "BBS4_000024" "g.73027478T>C" "0.45" "{PMID:Anasagasti-2013:24416769}" "" "p.Ile354Thr" "" "Germline" "yes" "rs2277598" "0" "" "" "" "" "benign (recessive)" "" "0000810921" "0" "30" "15" "73030536" "73030536" "subst" "0.103256" "00000" "BBS4_000080" "g.73030536G>T" "0.12" "{PMID:Anasagasti-2013:24416769}" "" "c.*608G>T" "" "Germline" "yes" "rs12898814" "0" "" "" "" "" "likely benign (recessive)" "" "0000810934" "3" "10" "15" "73027478" "73027478" "subst" "0.575299" "00000" "BBS4_000024" "g.73027478T>C" "0.45" "{PMID:Anasagasti-2013:24416769}" "" "p.Ile354Thr" "" "Germline" "yes" "rs2277598" "0" "" "" "" "" "benign (recessive)" "" "0000810935" "0" "30" "15" "73029068" "73029068" "subst" "0.0306247" "00000" "BBS4_000078" "g.73029068G>C" "0.15" "{PMID:Anasagasti-2013:24416769}" "" "c.1249-35G>C" "" "Germline" "yes" "rs117852179" "0" "" "" "" "" "likely benign (recessive)" "" "0000810951" "0" "50" "15" "73029306" "73029309" "del" "0" "00000" "BBS4_000079" "g.73029306_73029309delTAGG" "" "{PMID:Hichri-2005:15770229}" "" "c.1450+2delTAGG" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810952" "0" "90" "15" "73027469" "73027469" "subst" "0" "00000" "BBS4_000076" "g.73027469T>G" "" "{PMID:Hichri-2005:15770229}" "" "c.1052T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000810975" "3" "70" "15" "73027493" "73029970" "del" "0" "00000" "BBS4_000077" "g.73027493_73029970del" "" "{PMID:Sathya Priya-2015:24400638}" "" "[c.1077-?_1601+?]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811051" "0" "70" "15" "73009127" "73009127" "del" "0" "00000" "BBS4_000084" "g.73009127del" "" "{PMID:Bin-2009:19402160}" "" "p.[L114WfsX28]+[=]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811113" "3" "70" "15" "73002101" "73002101" "subst" "0.00689212" "00000" "BBS4_000009" "g.73002101A>G" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.137A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811114" "0" "90" "15" "73009127" "73009128" "ins" "0" "00000" "BBS4_000085" "g.73009127_73009128insA" "" "{PMID:Muller-2010:20177705}" "" "c.341insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811115" "3" "90" "15" "73023673" "73023673" "subst" "0" "00000" "BBS4_000087" "g.73023673C>T" "" "{PMID:Muller-2010:20177705}" "" "c.739C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811116" "3" "90" "15" "73023958" "73023958" "subst" "0" "00000" "BBS4_000088" "g.73023958T>G" "" "{PMID:Muller-2010:20177705}" "" "c.927T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811117" "3" "90" "15" "73004584" "73009192" "del" "0" "00000" "BBS4_000073" "g.73004584_73009192del" "" "{PMID:Muller-2010:20177705}" "" "Del exon 4+5+6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811118" "3" "90" "15" "73015134" "73016997" "del" "0" "00000" "BBS4_000086" "g.73015134_73016997del" "" "{PMID:Muller-2010:20177705}" "" "Del exon 7+8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811249" "0" "10" "15" "0" "0" "ins" "0" "00000" "BBS4_000081" "g.?" "0.01" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.332+27_28insA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811250" "0" "10" "15" "73009208" "73009208" "subst" "0.044004" "00000" "BBS4_000016" "g.73009208C>T" "0.01" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.405+17C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811251" "0" "10" "15" "73029808" "73029808" "subst" "0" "00000" "BBS4_000092" "g.73029808T>C" "0.07" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.1485-45T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811282" "0" "90" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Hoskins-2003:12872256}" "" "c.1091C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811284" "0" "90" "15" "73027478" "73027478" "subst" "0" "00000" "BBS4_000089" "g.73027478C>T" "" "{PMID:Hoskins-2003:12872256}" "" "c.1061C>T" "C not found at position 1110, found T instead." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811285" "0" "90" "15" "73029070" "73029070" "subst" "0" "00000" "BBS4_000090" "g.73029070G>C" "" "{PMID:Hoskins-2003:12872256}" "" "c.1249-33G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811286" "0" "90" "15" "73029775" "73029775" "subst" "0" "00000" "BBS4_000091" "g.73029775C>T" "" "{PMID:Hoskins-2003:12872256}" "" "c.1452-45C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811292" "0" "90" "15" "73007770" "73007771" "ins" "0" "00000" "BBS4_000081" "g.73007770_73007771insA" "" "{PMID:Hoskins-2003:12872256}" "" "c.332+27_28insA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811293" "0" "90" "15" "73029268" "73029268" "subst" "0.000633976" "00000" "BBS4_000026" "g.73029268A>G" "" "{PMID:Hoskins-2003:12872256}" "" "c.141>A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811305" "0" "90" "15" "73029876" "73029876" "subst" "0" "00000" "BBS4_000093" "g.73029876C>T" "0/60 controls" "{PMID:Fauser-2003:12920096}" "" "1508C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811307" "0" "10" "15" "73002111" "73002111" "subst" "0" "00000" "BBS4_000082" "g.73002111A>G" "" "{PMID:Fauser-2003:12920096}, Mykytyn 2003" "" "147A>G" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000811337" "3" "70" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Eichers-2009:15224652}, Badano 2003" "" "A364E" "four mutant alleles are potentially necessary for disease pathogenesis." "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000811344" "0" "70" "15" "73029876" "73029876" "subst" "0" "00000" "BBS4_000093" "g.73029876C>T" "" "{PMID:Eichers-2009:15224652}, Fauser 2003" "" "P503L" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811346" "0" "70" "15" "73002111" "73002111" "subst" "0" "00000" "BBS4_000082" "g.73002111A>G" "" "{PMID:Eichers-2009:15224652}, Fauser 2003" "" "K46R" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811706" "0" "90" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Manara 2019:31196119}" "" "BBS4 c.332+2_332+3insTT," "heterozygous" "Germline" "yes" "rs753360929" "0" "" "" "g.72715404_72715405insTT" "" "pathogenic" "ACMG" "0000811717" "0" "90" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Manara 2019:31196119}" "" "BBS4 c.1091C>A, p.(Ala364Glu)" "heterozygous" "Germline" "?" "rs28938468" "0" "" "" "g.72735167C>A" "" "pathogenic" "ACMG" "0000813062" "0" "70" "15" "73027520" "73027520" "subst" "8.1246E-6" "00000" "BBS4_000097" "g.73027520A>G" "" "{PMID:Feuillan-2011:21209035}" "" "c.1103A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813063" "0" "70" "15" "73004584" "73009192" "del" "0" "00000" "BBS4_000073" "g.73004584_73009192del" "" "{PMID:Feuillan-2011:21209035}" "" "deletionexons4,5,6" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813064" "3" "70" "15" "73002041" "73002120" "dup" "0" "00000" "BBS4_000094" "g.73002041_73002120dup" "" "{PMID:Feuillan-2011:21209035}" "" "exon3dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813065" "3" "70" "15" "73002041" "73002120" "dup" "0" "00000" "BBS4_000094" "g.73002041_73002120dup" "" "{PMID:Feuillan-2011:21209035}" "" "exon3dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813066" "3" "70" "15" "73002041" "73002120" "dup" "0" "00000" "BBS4_000094" "g.73002041_73002120dup" "" "{PMID:Feuillan-2011:21209035}" "" "exon3dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813155" "0" "50" "15" "73029831" "73029831" "subst" "0.000521955" "00000" "BBS4_000053" "g.73029831C>A" "" "{PMID:Billingsley-2010:20472660}" "" "[T488K]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813168" "0" "50" "15" "73004609" "73004609" "subst" "0" "00000" "BBS4_000095" "g.73004609G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[E61K]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813171" "0" "50" "15" "73004609" "73004609" "subst" "0" "00000" "BBS4_000095" "g.73004609G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[E61K]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813223" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813225" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813227" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813229" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813249" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813250" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813256" "0" "50" "15" "73007595" "73007595" "subst" "0.0018648" "00000" "BBS4_000096" "g.73007595G>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.221-37G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813269" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813280" "0" "50" "15" "73028121" "73028121" "subst" "0" "00000" "BBS4_000098" "g.73028121T>C" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.1107-45T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813281" "3" "70" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.157-2A>G r.157_220del p.(A53Hfs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813285" "0" "50" "15" "73009208" "73009208" "subst" "0.044004" "00000" "BBS4_000016" "g.73009208C>T" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.[405+17C>T(;)1248+65C>T]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813286" "0" "50" "15" "73028372" "73028372" "subst" "0" "00000" "BBS4_000100" "g.73028372C>T" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.[405+17C>T(;)1248+65C>T]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813329" "3" "70" "15" "73028239" "73028239" "subst" "0" "00000" "BBS4_000099" "g.73028239C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1180C>T p.(Q394*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814023" "3" "90" "15" "0" "0" "" "0" "00000" "IGF1R_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "c.[(157-?)_(405+?)del];[(157-?)_(405+?)del]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814059" "3" "90" "15" "73004584" "73009192" "del" "0" "00000" "BBS4_000073" "g.73004584_73009192del" "" "{PMID:M\'hamdi-2014:23432027}" "" "DelEx4-5-6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814097" "0" "50" "15" "0" "0" "" "0" "00000" "IGF1R_000000" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L114WfsX28]" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814119" "0" "50" "15" "73002101" "73002101" "subst" "0.00689212" "00000" "BBS4_000009" "g.73002101A>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.N90S]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814124" "1" "70" "15" "73028295" "73028295" "subst" "0.0016573" "00000" "BBS4_000031" "g.73028295A>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.I330T];[p.R483X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814148" "1" "70" "15" "73004609" "73004609" "subst" "0" "00000" "BBS4_000095" "g.73004609G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.Q293E];[p.F372XfsX1]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814165" "2" "70" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.V230FfsX7]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814166" "2" "70" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.Y559X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814175" "3" "70" "15" "0" "0" "" "0" "00000" "IGF1R_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814225" "3" "70" "15" "73029831" "73029831" "subst" "0.000521955" "00000" "BBS4_000053" "g.73029831C>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.C91LfsX5]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814238" "20" "70" "15" "73004609" "73004609" "subst" "0" "00000" "BBS4_000095" "g.73004609G>A" "" "{PMID:Deveault-2011:21344540}" "" "(c.1115_1116delTT; p.Phe372X)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814571" "3" "90" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0.017" "{PMID:Janssen-2011:21052717}" "" "c.IVS3-2A>G(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814580" "0" "70" "15" "73004646" "73004646" "subst" "0" "00000" "BBS4_000101" "g.73004646A>G" "2.3% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.218A>G(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815039" "3" "90" "15" "73023763" "73023763" "subst" "0" "00000" "BBS4_000103" "g.73023763G>A" "" "{PMID:Fattahi 2014:24849935}" "" "c.829G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815049" "3" "90" "15" "73002041" "73004648" "del" "0" "00000" "BBS4_000102" "g.73002041_73004648del" "" "{PMID:Fattahi 2014:24849935}" "" "c.77_220del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000816269" "0" "50" "15" "73028260" "73028260" "subst" "1.21831E-5" "00000" "BBS4_000104" "g.73028260A>T" "" "{PMID:Zampaglione 2020:32037395}" "" "BBS4 c.1201A>T, p.Lys401Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.72735919A>T" "" "VUS" "" "0000817529" "3" "70" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Knopp 2015:26003401}" "" "c.332+2_332+3insTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817533" "3" "70" "15" "0" "0" "" "0" "00000" "IGF1R_000000" "g.?" "" "{PMID:Knopp 2015:26003401}" "" "p.Glu136Valfs*27" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817831" "3" "90" "15" "73002040" "73004649" "del" "0" "00006" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Hu 2019:29302074}" "" "g.73002041_73004648del" "" "Germline" "" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic (recessive)" "ACMG" "0000818969" "1" "70" "15" "73015134" "73016997" "del" "0" "00000" "BBS4_000106" "g.(73009192_73015134)_(73016997_73020280)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr15:73015130–73017001" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819025" "0" "70" "15" "73028231" "73028231" "subst" "0" "00000" "BBS4_000107" "g.73028231C>G" "" "{PMID:Hirano 2020:32451492}" "" "BBS 4 c.1172 C > G (in text)" "no protein position written in publication" "Germline" "?" "" "0" "" "" "g.72735890C>G" "" "likely pathogenic" "" "0000819069" "3" "70" "15" "72976295" "72979522" "del" "0" "00000" "BBS4_000105" "g.72976295_72979522del" "" "{PMID:Dineiro 2020:32483926}" "" "BBS4 c.‐2274_23 + 93" "homozygous, error in annotation, should be c.-2274_24+930del, 23 is not an intron boundary" "Germline" "?" "" "0" "" "" "g.72683954_72687181del" "" "likely pathogenic" "ACMG" "0000819377" "1" "70" "15" "73007733" "73007733" "subst" "0" "00000" "BBS4_000109" "g.73007733G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.322G>A/p.A108T, variant 2: c.514dup/p.I172Nfs*18" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.72715392G>A" "" "likely pathogenic" "" "0000819396" "1" "70" "15" "73027520" "73027520" "subst" "8.1246E-6" "00000" "BBS4_000097" "g.73027520A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.1103A>G/p.D368G, variant 2: c.1103A>G/p.D368G" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.72735179A>G" "" "likely pathogenic" "" "0000819419" "1" "70" "15" "73002093" "73002093" "subst" "0" "00000" "BBS4_000108" "g.73002093T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.129T>G/p.Y43*, variant 2: c.883C>T/p.R295*" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.72709752T>G" "" "likely pathogenic" "" "0000819426" "1" "70" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.157-3C>G/p.?, variant 2: c.157-3C>G/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.72712241C>G" "" "likely pathogenic" "" "0000819482" "1" "70" "15" "73023914" "73023914" "subst" "4.06075E-6" "00000" "BBS4_000057" "g.73023914C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.883C>T/p.R295*, variant 2: c.1107-10_1107-7del/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.72731573C>T" "" "likely pathogenic" "" "0000820316" "1" "70" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.1091C>A/p.A364E , variant 2: c.1091C>A/p.A364E" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.72735167C>A" "" "likely pathogenic" "" "0000820628" "1" "70" "15" "73016923" "73016923" "dup" "0" "00000" "BBS4_000062" "g.73016923dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.322G>A/p.A108T, variant 2: c.514dup/p.I172Nfs*18" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.72724582dup" "" "likely pathogenic" "" "0000820639" "1" "70" "15" "73023914" "73023914" "subst" "4.06075E-6" "00000" "BBS4_000057" "g.73023914C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.129T>G/p.Y43*, variant 2: c.883C>T/p.R295*" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.72731573C>T" "" "likely pathogenic" "" "0000820658" "1" "70" "15" "73028156" "73028159" "del" "0" "00000" "BBS4_000110" "g.73028156_73028159del" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS4, variant 1: c.883C>T/p.R295*, variant 2: c.1107-10_1107-7del/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.72735815_72735818del" "" "likely pathogenic" "" "0000824914" "11" "90" "15" "73023963" "73023963" "subst" "0" "00000" "BBS4_000112" "g.73023963G>A" "" "{PMID:Meng 2021:33777945}" "" "BBS4 c.932G > A, p.G311D" "heterozygous" "Germline" "yes" "" "0" "" "" "g.72731622G>A" "" "pathogenic" "ACMG" "0000824924" "21" "90" "15" "72987524" "72987524" "subst" "0" "00000" "BBS4_000111" "g.72987524C>T" "" "{PMID:Meng 2021:33777945}" "" "BBS4 c.31C > T, p.Q11*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.72695183C>T" "" "pathogenic" "ACMG" "0000827842" "0" "50" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.332+1G>GTT, Spl?" "error in annotation, should be c.332+2_332+3insTT, homozygous, no ACMG classification; solved" "Unknown" "?" "" "0" "" "" "g.72715404_72715405insTT" "" "VUS" "ACMG" "0000827843" "0" "50" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.332+1G>GTT, spl?" "error in annotation, should be c.332+2_332+3insTT, homozygous, no ACMG classification; solved" "Unknown" "?" "" "0" "" "" "g.72715404_72715405insTT" "" "VUS" "ACMG" "0000827848" "0" "50" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.332+1G>GTT, spl?" "error in annotation, should be c.332+2_332+3insTT, homozygous; solved" "Unknown" "?" "" "0" "" "" "g.72715404_72715405insTT" "" "VUS" "ACMG" "0000827852" "0" "50" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.332+1G>GTT, spl" "error in annotation, should be c.332+2_332+3insTT, homozygous, no ACMG classification; solved" "Unknown" "?" "" "0" "" "" "g.72715404_72715405insTT" "" "VUS" "ACMG" "0000827858" "0" "50" "15" "73007745" "73007746" "ins" "0" "00000" "BBS4_000083" "g.73007745_73007746insTT" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.332+1G>GTT, Spl?" "error in annotation, should be c.332+2_332+3insTT, homozygous, no ACMG classification; solved" "Unknown" "?" "" "0" "" "" "g.72715404_72715405insTT" "" "VUS" "ACMG" "0000827897" "0" "50" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.1091C>A, p.A364E" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.72735167C>A" "" "VUS" "ACMG" "0000827898" "0" "90" "15" "73009122" "73009127" "del" "0" "00000" "BBS4_000113" "g.73009122_73009127del" "" "{PMID:Zacchia 2021:33964006}" "" "BBS4 c.334_338del, p.112_113del" "error in annotation, deletion of amino acids 112 and 133 is caused by c.336_341del and not c.334_338del , heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.72716781_72716786del" "" "pathogenic" "ACMG" "0000828506" "3" "70" "15" "72978159" "72978592" "del" "0" "00000" "IGF1R_000000" "g.72978159_72978592del" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS4, arr([GRCh37] 15q24.1(72685818-72686251)x0), arr([GRCh37] 15q24.1(72,685,818-72,686,251)x0), homozygous" "error in annotation, GRCh37 in this locus has only repetitive elements; BBS4 gene is partially deleted in GRCh38, homozygous" "Unknown" "?" "" "0" "" "" "g.72685818_72686251del" "" "likely pathogenic" "ACMG" "0000830020" "1" "90" "15" "72987570" "72987570" "subst" "4.06312E-6" "00000" "BBS4_000114" "g.72987570G>T" "" "{PMID:Mary-2019:30614526}" "" "c.[76+1G>T];[657delG]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830021" "2" "90" "15" "73021971" "73021971" "del" "0" "00000" "BBS4_000116" "g.73021971del" "" "{PMID:Mary-2019:30614526}" "" "c.[76+1G>T];[657delG]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830022" "1" "90" "15" "72987570" "72987570" "subst" "4.06312E-6" "00000" "BBS4_000114" "g.72987570G>T" "" "{PMID:Mary-2019:30614526}" "" "c.[76+1G>T];[657delG]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830023" "2" "90" "15" "73021971" "73021971" "del" "0" "00000" "BBS4_000116" "g.73021971del" "" "{PMID:Mary-2019:30614526}" "" "c.[76+1G>T];[657delG]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830024" "1" "90" "15" "73004584" "73004649" "del" "0" "00000" "BBS4_000115" "g.73004584_73004649del" "" "{PMID:Mary-2019:30614526}" "" "c.[157-?_220+?del];[157-?_220+?del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830025" "2" "90" "15" "73004584" "73004649" "del" "0" "00000" "BBS4_000115" "g.73004584_73004649del" "" "{PMID:Mary-2019:30614526}" "" "c.[157-?_220+?del];[157-?_220+?del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830026" "1" "90" "15" "73004584" "73004649" "del" "0" "00000" "BBS4_000115" "g.73004584_73004649del" "" "{PMID:Mary-2019:30614526}" "" "c.[157-?_220+?del];[157-?_220+?del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830027" "2" "90" "15" "73004584" "73004649" "del" "0" "00000" "BBS4_000115" "g.73004584_73004649del" "" "{PMID:Mary-2019:30614526}" "" "c.[157-?_220+?del];[157-?_220+?del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830028" "1" "90" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "" "{PMID:Mary-2019:30614526}" "" "c.[157-3C>G];[157-3C>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830029" "2" "90" "15" "73004582" "73004582" "subst" "0" "00000" "BBS4_000056" "g.73004582C>G" "" "{PMID:Mary-2019:30614526}" "" "c.[157-3C>G];[157-3C>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841601" "1" "30" "15" "73002035" "73002035" "subst" "0.986904" "00006" "BBS4_000008" "g.73002035G>A" "" "{PMID:Alvarez-Satta 2017:28502102}" "" "" "expression cloning mini-gene splicing assay shows no effect on splicing" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000845926" "0" "70" "15" "73029268" "73029268" "subst" "0.000633976" "00000" "BBS4_000026" "g.73029268A>G" "" "{PMID:Kang 2016:27491411}" "" "BBS4 c.1414A>G, p.Met472Val" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.72736927A>G" "" "likely pathogenic" "" "0000845942" "0" "70" "15" "73029916" "73029917" "del" "0.000328571" "00000" "BBS4_000054" "g.73029916_73029917del" "" "{PMID:Kang 2016:27491411}" "" "BBS4 c.1548_1549del, p.516_517del" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.72737575_72737576del" "" "likely pathogenic" "" "0000845943" "0" "70" "15" "73029268" "73029268" "subst" "0.000633976" "00000" "BBS4_000026" "g.73029268A>G" "" "{PMID:Kang 2016:27491411}" "" "BBS4 c.1414A>G, p.Met472Val" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.72736927A>G" "" "likely pathogenic" "" "0000863953" "0" "30" "15" "73017003" "73017003" "subst" "0" "01804" "BBS4_000117" "g.73017003G>A" "" "" "" "BBS4(NM_001252678.1):c.71+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879728" "3" "90" "15" "73023915" "73023915" "subst" "4.06072E-6" "00000" "BBS4_000060" "g.73023915G>C" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 c.884G>C, p.(Arg295Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.72731574G>C" "" "pathogenic" "" "0000879729" "3" "90" "15" "73004649" "73004649" "subst" "0" "00000" "BBS4_000119" "g.73004649G>C" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 c.220+1G>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.72712308G>C" "" "pathogenic" "" "0000879730" "3" "90" "15" "73015133" "73015133" "subst" "0" "00000" "BBS4_000121" "g.73015133A>C" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 c.406-2A>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.72722792A>C" "" "pathogenic" "" "0000879731" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879732" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879733" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879734" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879735" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879736" "3" "90" "15" "73002040" "73004649" "del" "0" "00000" "BBS4_000030" "g.(72987570_73002040)_(73004649_73007631)del" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 exon 3 and 4 6 kb deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.(72695229_72709699)_(72712308_72715290)del" "" "pathogenic" "" "0000879737" "0" "70" "15" "73016993" "73016994" "dup" "0" "00000" "BBS4_000123" "g.73016993_73016994dup" "" "{PMID:Mykytyn 2001:11381270}" "" "BBS4 c.585-586insTG, premature termination at codon 209" "heterozygous; no second allele found" "Unknown" "?" "" "0" "" "" "g.72724652_72724653dup" "" "likely pathogenic" "" "0000879738" "3" "90" "15" "73004583" "73004583" "subst" "4.06785E-6" "00000" "BBS4_000002" "g.73004583A>G" "0/108 ethnically matched control chromosomes" "{PMID:Katsanis 2002:12016587}" "" "BBS4 IVS3-2A>G" "no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous" "Germline" "yes" "" "0" "" "" "g.72712242A>G" "" "pathogenic" "" "0000879739" "3" "70" "15" "73027508" "73027508" "subst" "0" "00000" "BBS4_000025" "g.73027508C>A" "0/384 control chromosomes (including 84 Kurdish chromosomes)" "{PMID:Katsanis 2002:12016587}" "" "BBS4 c.1091C>A, A364E" "homozygous" "Germline" "yes" "" "0" "" "" "g.72735167C>A" "" "likely pathogenic" "" "0000879740" "0" "30" "15" "73024011" "73024011" "subst" "0" "00000" "BBS4_000124" "g.73024011T>C" "0/384 ethnically matched control chromosomes and 96 random control chromosomes" "{PMID:Katsanis 2002:12016587}" "" "BBS4 L327P" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous; locus excluded, affected siblings have different maternal chromosome; haplotype analysis indicated BBS1, but no sequencing conducted" "Germline" "no" "" "0" "" "" "g.72731670T>C" "" "likely benign" "" "0000879741" "0" "30" "15" "73016902" "73016902" "subst" "0" "00000" "BBS4_000122" "g.73016902A>C" "0/384 ethnically matched control chromosomes and 96 random control chromosomes" "{PMID:Katsanis 2002:12016587}" "" "BBS4 N165H" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous; locus excluded, affected sib and the unaffected sib inherited the same parental BBS4 chromosomes" "Germline" "no" "" "0" "" "" "g.72724561A>C" "" "likely benign" "" "0000879742" "0" "50" "15" "73029224" "73029224" "subst" "0" "00000" "BBS4_000125" "g.73029224G>T" "0/384 ethnically matched control chromosomes and 96 random control chromosomes" "{PMID:Katsanis 2002:12016587}" "" "BBS4 S457I" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous; region too small for a definitive assignment" "Germline" "?" "" "0" "" "" "g.72736883G>T" "" "VUS" "" "0000879744" "3" "70" "15" "73007664" "73007664" "subst" "0" "00000" "BBS4_000120" "g.73007664G>C" "0/200 normal matching controls, including 96 from Saudi Arabia" "{PMID:Wang 2011:22219648}" "" "BBS4 c.253G>C;p.E85Q" "homozygous" "Germline" "yes" "" "0" "" "" "g.72715323G>C" "" "likely pathogenic" "" "0000879745" "3" "70" "15" "73007664" "73007664" "subst" "0" "00000" "BBS4_000120" "g.73007664G>C" "0/200 normal matching controls, including 96 from Saudi Arabia" "{PMID:Wang 2011:22219648}" "" "BBS4 c.253G>C;p.E85Q" "homozygous" "Germline" "yes" "" "0" "" "" "g.72715323G>C" "" "likely pathogenic" "" "0000879746" "3" "70" "15" "73007664" "73007664" "subst" "0" "00000" "BBS4_000120" "g.73007664G>C" "0/200 normal matching controls, including 96 from Saudi Arabia" "{PMID:Wang 2011:22219648}" "" "BBS4 c.253G>C;p.E85Q" "homozygous" "Germline" "yes" "" "0" "" "" "g.72715323G>C" "" "likely pathogenic" "" "0000879771" "3" "70" "15" "72987563" "72987563" "subst" "0" "00000" "BBS4_000118" "g.72987563A>T" "" "{PMID:Li 2014:25533820}" "" "BBS4 c.70A>T, p.K24X" "homozygous; heterozygous proband\'s father also reported a surgical history of polydactyly removal, but her brother, carrying the same alleles appeared completel" "Germline" "yes" "" "0" "" "" "g.72695222A>T" "" "likely pathogenic" "" "0000880177" "0" "10" "15" "73009208" "73009208" "subst" "0.044004" "00006" "BBS4_000016" "g.73009208C>T" "1/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.72716867C>T" "" "benign" "" "0000880178" "0" "10" "15" "73027478" "73027478" "subst" "0.575299" "00006" "BBS4_000024" "g.73027478T>C" "10/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs2277598" "0" "" "" "g.72735137T>C" "" "benign" "" "0000892234" "0" "30" "15" "73004608" "73004608" "subst" "0.00208416" "02326" "BBS4_000011" "g.73004608A>G" "" "" "" "BBS4(NM_033028.4):c.180A>G (p.Q60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892235" "0" "90" "15" "73023914" "73023914" "subst" "4.06075E-6" "02326" "BBS4_000057" "g.73023914C>T" "" "" "" "BBS4(NM_033028.4):c.883C>T (p.R295*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892236" "0" "30" "15" "73028159" "73028159" "subst" "2.84278E-5" "02326" "BBS4_000126" "g.73028159G>A" "" "" "" "BBS4(NM_033028.4):c.1107-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905559" "0" "70" "15" "73023915" "73023915" "subst" "4.06072E-6" "00000" "BBS4_000060" "g.73023915G>C" "" "{PMID:Heon 2005:15690372}" "" "BBS4 R295P" "homozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.72731574G>C" "" "likely pathogenic" "" "0000905892" "0" "70" "15" "73009117" "73009117" "subst" "8.37283E-6" "00000" "BBS4_000127" "g.73009117A>C" "" "{PMID:Zhu 2022:35456422}" "" "BBS4 c.333-2A>C, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.72716776A>C" "" "likely pathogenic" "ACMG" "0000914353" "0" "30" "15" "73009188" "73009188" "subst" "0" "02330" "BBS4_000128" "g.73009188T>C" "" "" "" "BBS4(NM_033028.5):c.402T>C (p.D134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950436" "0" "30" "15" "73029971" "73029971" "subst" "0.0035549" "01804" "BBS4_000129" "g.73029971G>T" "" "" "" "BBS4(NM_001252678.1):c.*43G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967932" "0" "30" "15" "73023682" "73023682" "subst" "0.00103547" "02326" "BBS4_000021" "g.73023682G>A" "" "" "" "BBS4(NM_033028.4):c.748G>A (p.G250R), BBS4(NM_033028.5):c.748G>A (p.G250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967933" "0" "30" "15" "73028218" "73028218" "subst" "4.87333E-5" "02326" "BBS4_000130" "g.73028218G>A" "" "" "" "BBS4(NM_033028.4):c.1159G>A (p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967936" "0" "50" "15" "73029154" "73029154" "subst" "0" "02327" "BBS4_000032" "g.73029154C>A" "" "" "" "BBS4(NM_033028.5):c.1300C>A (p.L434M, p.(Leu434Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967937" "0" "30" "15" "73029831" "73029831" "subst" "0.000521955" "02326" "BBS4_000053" "g.73029831C>A" "" "" "" "BBS4(NM_001252678.1):c.947C>A (p.(Thr316Lys)), BBS4(NM_033028.4):c.1463C>A (p.T488K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981393" "0" "70" "15" "73029909" "73029919" "del" "0.000105388" "01804" "BBS4_000131" "g.73029909_73029919del" "" "" "" "BBS4(NM_033028.5):c.1541_1551del (p.(Glu514GlyfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026496" "0" "70" "15" "72978632" "72978632" "subst" "0" "02327" "BBS4_000132" "g.72978632C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026497" "0" "30" "15" "73002101" "73002101" "subst" "0.00689212" "01943" "BBS4_000009" "g.73002101A>G" "" "" "" "BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026498" "0" "90" "15" "73023711" "73023712" "del" "0" "02327" "BBS4_000022" "g.73023711_73023712del" "" "" "" "BBS4(NM_033028.4):c.777_778delCA (p.Y259*), BBS4(NM_033028.5):c.777_778delCA (p.Y259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040544" "0" "50" "15" "73022011" "73022011" "subst" "1.21819E-5" "01804" "BBS4_000133" "g.73022011C>G" "" "" "" "BBS4(NM_033028.5):c.697C>G (p.(Pro233Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040545" "0" "50" "15" "73029154" "73029154" "subst" "0" "01804" "BBS4_000032" "g.73029154C>A" "" "" "" "BBS4(NM_033028.5):c.1300C>A (p.L434M, p.(Leu434Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BBS4 ## Count = 243 "{{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}}" "0000130130" "00003290" "90" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl?" "p.?" "" "0000247306" "00003290" "10" "1236" "0" "1236" "0" "c.1236A>T" "r.(?)" "p.(Glu412Asp)" "" "0000247353" "00003290" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000248249" "00003290" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000250788" "00003290" "30" "1236" "0" "1236" "0" "c.1236A>T" "r.(?)" "p.(Glu412Asp)" "" "0000251585" "00003290" "10" "77" "-5226" "77" "-5226" "c.77-5226A>G" "r.(=)" "p.(=)" "" "0000251686" "00003290" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000251926" "00003290" "30" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "" "0000254007" "00003290" "30" "1236" "0" "1236" "0" "c.1236A>T" "r.(?)" "p.(Glu412Asp)" "" "0000254080" "00003290" "30" "157" "-19" "157" "-19" "c.157-19A>G" "r.(=)" "p.(=)" "" "0000254256" "00003290" "30" "180" "0" "180" "0" "c.180A>G" "r.(?)" "p.(Gln60=)" "" "0000258601" "00003290" "50" "1300" "0" "1300" "0" "c.1300C>A" "r.(?)" "p.(Leu434Met)" "" "0000258602" "00003290" "10" "1482" "0" "1482" "0" "c.1482C>A" "r.(?)" "p.(Pro494=)" "" "0000258603" "00003290" "30" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Ala504Val)" "" "0000258604" "00003290" "10" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Tyr124=)" "" "0000258605" "00003290" "10" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000259232" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "" "0000259233" "00003290" "10" "76" "19" "76" "19" "c.76+19G>T" "r.(=)" "p.(=)" "" "0000259234" "00003290" "10" "77" "-6" "77" "-6" "c.77-6G>A" "r.(=)" "p.(=)" "" "0000259235" "00003290" "10" "906" "0" "906" "0" "c.906=" "r.(=)" "p.(Phe302=)" "" "0000260358" "00003290" "90" "777" "0" "778" "0" "c.777_778del" "r.(?)" "p.(Tyr259Ter)" "" "0000261411" "00003290" "30" "332" "8" "332" "8" "c.332+8T>C" "r.(=)" "p.(=)" "" "0000261412" "00003290" "10" "77" "-5436" "77" "-5436" "c.77-5436G>A" "r.(=)" "p.(=)" "" "0000261413" "00003290" "90" "777" "0" "778" "0" "c.777_778del" "r.(?)" "p.(Tyr259Ter)" "" "0000263582" "00003290" "10" "-17" "0" "-17" "0" "c.-17C>T" "r.(?)" "p.(=)" "" "0000263583" "00003290" "10" "1561" "0" "1561" "0" "c.*1G>C" "r.(=)" "p.(=)" "" "0000263584" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "" "0000263585" "00003290" "50" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000263586" "00003290" "90" "1493" "0" "1493" "0" "c.1493del" "r.(?)" "p.(Pro498LeufsTer19)" "" "0000263587" "00003290" "10" "405" "17" "405" "17" "c.405+17C>T" "r.(=)" "p.(=)" "" "0000263588" "00003290" "10" "459" "14" "459" "14" "c.459+14G>C" "r.(=)" "p.(=)" "" "0000263589" "00003290" "10" "76" "19" "76" "19" "c.76+19G>T" "r.(=)" "p.(=)" "" "0000263590" "00003290" "10" "77" "-6" "77" "-6" "c.77-6G>A" "r.(=)" "p.(=)" "" "0000263591" "00003290" "10" "906" "0" "906" "0" "c.906=" "r.(=)" "p.(Phe302=)" "" "0000324180" "00003290" "30" "24" "8" "24" "8" "c.24+8C>T" "r.(=)" "p.(=)" "" "0000324182" "00003290" "50" "289" "0" "289" "0" "c.289A>C" "r.(?)" "p.(Ser97Arg)" "" "0000324184" "00003290" "50" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "" "0000324185" "00003290" "50" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Lys)" "" "0000338667" "00003290" "10" "-38" "0" "-38" "0" "c.-38C>A" "r.(?)" "p.(=)" "" "0000338668" "00003290" "10" "-17" "0" "-17" "0" "c.-17C>T" "r.(?)" "p.(=)" "" "0000338669" "00003290" "90" "25" "-5" "25" "-5" "c.25-5T>C" "r.spl?" "p.?" "" "0000338670" "00003290" "10" "76" "19" "76" "19" "c.76+19G>T" "r.(=)" "p.(=)" "" "0000341398" "00003290" "90" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000350056" "00003290" "90" "1083" "0" "1083" "0" "c.1083C>A" "r.(?)" "p.(Tyr361Ter)" "" "0000358176" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.?" "p.?" "2i_4i" "0000555337" "00003290" "70" "10" "0" "10" "0" "c.10G>T" "r.(?)" "p.(Glu4Ter)" "" "0000555339" "00003290" "30" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Leu75=)" "" "0000555340" "00003290" "30" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "" "0000555341" "00003290" "50" "289" "0" "289" "0" "c.289A>C" "r.(?)" "p.(Ser97Arg)" "" "0000555342" "00003290" "30" "329" "0" "329" "0" "c.329C>G" "r.(?)" "p.(Ser110Cys)" "" "0000555343" "00003290" "30" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Tyr124=)" "" "0000555344" "00003290" "50" "443" "0" "443" "0" "c.443T>A" "r.(?)" "p.(Leu148Gln)" "" "0000555345" "00003290" "30" "588" "-9" "588" "-9" "c.588-9A>G" "r.(=)" "p.(=)" "" "0000555346" "00003290" "50" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Ala288Val)" "" "0000555347" "00003290" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Ala329=)" "" "0000555348" "00003290" "10" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Asn350Ser)" "" "0000555349" "00003290" "10" "1106" "20" "1106" "20" "c.1106+20T>C" "r.(=)" "p.(=)" "" "0000555351" "00003290" "30" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Ala379Val)" "" "0000555354" "00003290" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Thr480Met)" "" "0000555355" "00003290" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000555356" "00003290" "30" "1548" "0" "1549" "0" "c.1548_1549del" "r.(?)" "p.(Ile516MetfsTer8)" "" "0000615492" "00003290" "90" "405" "1" "405" "1" "c.405+1G>A" "r.spl?" "p.?" "" "0000615493" "00003290" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000615494" "00003290" "30" "1482" "0" "1482" "0" "c.1482C>A" "r.(?)" "p.(Pro494=)" "" "0000649152" "00003290" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000668255" "00003290" "90" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl" "p.?" "" "0000669296" "00003290" "10" "405" "17" "405" "17" "c.405+17C>T" "r.(=)" "p.(=)" "" "0000680269" "00003290" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Ter)" "" "0000685021" "00003290" "90" "77" "-1476" "406" "-309" "c.77-1476_406-309del" "r.(?)" "p.(Ala26Glyfs*5)" "" "0000685022" "00003290" "70" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Gly142Arg)" "" "0000685023" "00003290" "90" "884" "0" "884" "0" "c.884G>C" "r.(?)" "p.(Arg295Pro)" "" "0000725287" "00003290" "90" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl?" "p.?" "" "0000725288" "00003290" "30" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Thr480=)" "" "0000730981" "00003290" "70" "514" "0" "514" "0" "c.514dup" "r.(?)" "p.(Ile172Asnfs*18)" "" "0000731034" "00003290" "70" "883" "0" "883" "0" "c.883C>G" "r.(?)" "p.(Arg295Gly)" "" "0000732598" "00003290" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Gln459*)" "" "0000759686" "00003290" "90" "77" "-1454" "221" "-786" "c.77-1454_221-786del" "r.(?)" "p.(Pro27_Ala74del)" "" "0000759687" "00003290" "90" "221" "-1062" "406" "-847" "c.221-1062_406-847del" "r.(?)" "p.(Ala74Glyfs*5)" "" "0000759688" "00003290" "90" "221" "-1035" "405" "2929" "c.221-1035_405+2929del" "r.(?)" "p.(Ala74Glyfs*5)" "" "0000759708" "00003290" "50" "439" "0" "439" "0" "c.439T>A" "r.(?)" "p.(Tyr147Asn)" "" "0000759716" "00003290" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000760158" "00003290" "50" "712" "-1" "712" "-1" "c.712-1G>A" "r.spl" "p.?" "" "0000765533" "00003290" "90" "406" "-2" "406" "-2" "c.406-2A>G" "r.(?)" "p.?" "" "0000765853" "00003290" "70" "1311" "0" "1312" "0" "c.1311_1312insT" "r.(?)" "p.(Lys438Ter)" "" "0000765906" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl" "p.?" "" "0000765915" "00003290" "70" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000765930" "00003290" "70" "262" "0" "262" "0" "c.262del" "r.(?)" "p.(Glu88AsnfsTer54)" "" "0000793699" "00003290" "90" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl?" "p.?" "3i" "0000793700" "00003290" "90" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.?" "3i" "0000794958" "00003290" "50" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl?" "p.?" "3i" "0000795031" "00003290" "90" "157" "-1" "405" "1" "c.(?_157-1)_(405+1_?)del" "r.spl?" "p.?" "3i_6i" "0000797523" "00003290" "90" "1106" "2" "1106" "2" "c.1106+2T>A" "r.(?)" "p.(?)" "" "0000806896" "00003290" "50" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Ile172Val)" "" "0000806897" "00003290" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000806898" "00003290" "30" "1482" "0" "1482" "0" "c.1482C>A" "r.(?)" "p.(Pro494=)" "" "0000810876" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "13" "0000810908" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "13" "0000810909" "00003290" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "3" "0000810920" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "13" "0000810921" "00003290" "30" "2168" "0" "2168" "0" "c.*608G>T" "r.(=)" "p.(=)" "16" "0000810934" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "13" "0000810935" "00003290" "30" "1249" "-35" "1249" "-35" "c.1249-35G>C" "r.(=)" "p.(=)" "14i" "0000810951" "00003290" "50" "1450" "2" "1450" "5" "c.1450+2_1450+5delTAGG" "r.spl?" "p.?" "15i" "0000810952" "00003290" "90" "1052" "0" "1052" "0" "c.1052T>G" "r.(?)" "p.(Leu351Arg)" "13" "0000810975" "00003290" "70" "1077" "-1" "1601" "1" "c.(?_1077-1)_(1601+1_?)del" "r.spl?" "p.?" "13_16" "0000811051" "00003290" "70" "341" "0" "341" "0" "c.341del" "r.(?)" "p.(Leu114Trpfs*28)" "6" "0000811113" "00003290" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "3" "0000811114" "00003290" "90" "341" "0" "342" "0" "c.341_342insA" "r.(?)" "p.(His117Thrfs*2)" "6" "0000811115" "00003290" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247*)" "11" "0000811116" "00003290" "90" "927" "0" "927" "0" "c.927T>G" "r.(?)" "p.(Asn309Lys)" "12" "0000811117" "00003290" "90" "157" "-1" "405" "1" "c.(?_157-1)_(405+1)del" "r.spl?" "p.?" "3i_6i" "0000811118" "00003290" "90" "406" "-1" "587" "1" "c.(?_406-1)_(587+1_?)del" "r.spl?" "p.?" "6i_8i" "0000811249" "00003290" "10" "332" "27" "332" "28" "c.332+27_332+28insA" "r.(=)" "p.(=)" "5i" "0000811250" "00003290" "10" "405" "17" "405" "17" "c.405+17C>T" "r.(=)" "p.(=)" "6i" "0000811251" "00003290" "10" "1485" "-45" "1485" "-45" "c.1485-45T>C" "r.spl?" "p.?" "15i" "0000811282" "00003290" "90" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "13" "0000811284" "00003290" "90" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.?" "13" "0000811285" "00003290" "90" "1249" "-33" "1249" "-33" "c.1249-33G>C" "r.spl?" "p.?" "14i" "0000811286" "00003290" "90" "1452" "-45" "1452" "-45" "c.1452-45C>T" "r.spl?" "p.?" "15i" "0000811292" "00003290" "90" "332" "27" "332" "28" "c.332+27_332+28insA" "r.(=)" "p.(=)" "5i" "0000811293" "00003290" "90" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "15" "0000811305" "00003290" "90" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Pro503Leu)" "16" "0000811307" "00003290" "10" "147" "0" "147" "0" "c.147A>G" "r.(=)" "p.(=)" "3" "0000811337" "00003290" "70" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "13" "0000811344" "00003290" "70" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Pro503Leu)" "16" "0000811346" "00003290" "70" "147" "0" "147" "0" "c.147A>G" "r.(=)" "p.(=)" "3" "0000811706" "00003290" "90" "332" "2" "332" "3" "c.332+2_332+3insTT" "c.332+2_332+3insTT" "p.(?)" "5i" "0000811717" "00003290" "90" "1091" "0" "1091" "0" "c.1091C>A" "c.1091C>A" "p.(Ala364Glu)" "13" "0000813062" "00003290" "70" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Asp368Gly)" "13" "0000813063" "00003290" "70" "157" "-1" "405" "1" "c.157-1_405+1del" "r.spl?" "p.?" "3i_6i" "0000813064" "00003290" "70" "77" "0" "156" "0" "c.77_156dup" "r.(?)" "p.(Ala53Leufs*13)" "3" "0000813065" "00003290" "70" "77" "0" "156" "0" "c.77_156dup" "r.(?)" "p.(Ala53Leufs*13)" "3" "0000813066" "00003290" "70" "77" "0" "156" "0" "c.77_156dup" "r.(?)" "p.(Ala53Leufs*13)" "3" "0000813155" "00003290" "50" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Lys)" "16" "0000813168" "00003290" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "4" "0000813171" "00003290" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "4" "0000813223" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813225" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813227" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813229" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813249" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813250" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813256" "00003290" "50" "221" "-37" "221" "-37" "c.221-37G>A" "r.(=)" "p.(=)" "4i" "0000813269" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813280" "00003290" "50" "1107" "-45" "1107" "-45" "c.1107-45T>C" "r.(=)" "p.(=)" "13i" "0000813281" "00003290" "70" "157" "-2" "157" "-2" "c.157-2A>G" "r.157_220del" "p.?" "3i" "0000813285" "00003290" "50" "405" "17" "405" "17" "c.405+17C>T" "r.(=)" "p.(=)" "6i" "0000813286" "00003290" "50" "1248" "65" "1248" "65" "c.1248+65C>T" "r.(=)" "p.(=)" "14i" "0000813329" "00003290" "70" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "14" "0000814023" "00003290" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814059" "00003290" "90" "157" "-1" "405" "1" "c.157-1_405+1del" "r.spl?" "p.?" "3i_6i" "0000814097" "00003290" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814119" "00003290" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "3" "0000814124" "00003290" "70" "1236" "0" "1236" "0" "c.1236A>T" "r.(?)" "p.(Glu412Asp)" "14" "0000814148" "00003290" "70" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "4" "0000814165" "00003290" "70" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.?" "3i" "0000814166" "00003290" "70" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.?" "3i" "0000814175" "00003290" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814225" "00003290" "70" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Lys)" "16" "0000814238" "00003290" "70" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "4" "0000814571" "00003290" "90" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl?" "p.?" "3i" "0000814580" "00003290" "70" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Gln73Arg)" "4" "0000815039" "00003290" "90" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Arg)" "11" "0000815049" "00003290" "90" "77" "0" "220" "0" "c.77_220del" "r.(?)" "p.(Pro27_Ala74del)" "3_4" "0000816269" "00003290" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Lys401*)" "" "0000817529" "00003290" "70" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.?" "5i" "0000817533" "00003290" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu136Valfs*27)" "" "0000817831" "00003290" "90" "0" "0" "0" "0" "c..(76+1_77-1)_(220+1_221-1)del" "r.?" "p.(Pro27_Ala74del)" "" "0000818969" "00003290" "70" "406" "-1" "587" "1" "c.(405+1_406-1)_(587+1_588-1)del" "r.?" "p.?" "6i_8i" "0000819025" "00003290" "70" "1172" "0" "1172" "0" "c.1172C>G" "r.(?)" "p.(Ala391Gly)" "" "0000819069" "00003290" "70" "" "0" "" "0" "c.‐2274_24+930d" "r.0?" "p.0?" "" "0000819377" "00003290" "70" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Ala108Thr)" "" "0000819396" "00003290" "70" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Asp368Gly)" "" "0000819419" "00003290" "70" "129" "0" "129" "0" "c.129T>G" "r.(?)" "p.(Tyr43*)" "" "0000819426" "00003290" "70" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.(?)" "" "0000819482" "00003290" "70" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295*)" "" "0000820316" "00003290" "70" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000820628" "00003290" "70" "514" "0" "514" "0" "c.514dup" "r.(?)" "p.(Ile172Asnfs*18)" "" "0000820639" "00003290" "70" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295*)" "" "0000820658" "00003290" "70" "1107" "-10" "1107" "-7" "c.1107-10_1107-7del" "r.spl?" "p.(?)" "" "0000824914" "00003290" "90" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Gly311Asp)" "12" "0000824924" "00003290" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Gln11*)" "2" "0000827842" "00003290" "50" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.(?)" "" "0000827843" "00003290" "50" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.(?)" "" "0000827848" "00003290" "50" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.(?)" "" "0000827852" "00003290" "50" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.(?)" "" "0000827858" "00003290" "50" "332" "2" "332" "3" "c.332+2_332+3insTT" "r.spl?" "p.(?)" "" "0000827897" "00003290" "50" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000827898" "00003290" "90" "336" "0" "341" "0" "c.336_341del" "r.(?)" "p.(Phe112_Leu113del)" "" "0000828506" "00003290" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000830020" "00003290" "90" "76" "1" "76" "1" "c.76+1G>T" "r.spl?" "p.?" "2i" "0000830021" "00003290" "90" "657" "0" "657" "0" "c.657del" "r.(?)" "p.(Lys220Argfs*10)" "10" "0000830022" "00003290" "90" "76" "1" "76" "1" "c.76+1G>T" "r.spl?" "p.?" "2i" "0000830023" "00003290" "90" "657" "0" "657" "0" "c.657del" "r.(?)" "p.(Lys220Argfs*10)" "10" "0000830024" "00003290" "90" "157" "-1" "220" "1" "c.157-1_220+1del" "r.spl?" "p.?" "3i_4i" "0000830025" "00003290" "90" "157" "-1" "220" "1" "c.157-1_220+1del" "r.spl?" "p.?" "3i_4i" "0000830026" "00003290" "90" "157" "-1" "220" "1" "c.157-1_220+1del" "r.spl?" "p.?" "3i_4i" "0000830027" "00003290" "90" "157" "-1" "220" "1" "c.157-1_220+1del" "r.spl?" "p.?" "3i_4i" "0000830028" "00003290" "90" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.?" "3i" "0000830029" "00003290" "90" "157" "-3" "157" "-3" "c.157-3C>G" "r.spl?" "p.?" "3i" "0000841601" "00003290" "30" "77" "-6" "77" "-6" "c.77-6G>A" "r.(=)" "p.(=)" "" "0000845926" "00003290" "70" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "" "0000845942" "00003290" "70" "1548" "0" "1549" "0" "c.1548_1549del" "r.(?)" "p.(Ile516MetfsTer8)" "" "0000845943" "00003290" "70" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "" "0000863953" "00003290" "30" "587" "7" "587" "7" "c.587+7G>A" "r.(=)" "p.(=)" "" "0000879728" "00003290" "90" "884" "0" "884" "0" "c.884G>C" "r.(?)" "p.(Arg295Pro)" "10" "0000879729" "00003290" "90" "220" "1" "220" "1" "c.220+1G>C" "r.spl" "p.?" "10" "0000879730" "00003290" "90" "406" "-2" "406" "-2" "c.406-2A>C" "r.spl" "p.?" "10" "0000879731" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879732" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879733" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879734" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879735" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879736" "00003290" "90" "77" "-1" "220" "1" "c.(76+1_77-1)_(220+1_221-1)del" "r.(?)" "p.?" "10" "0000879737" "00003290" "70" "584" "0" "585" "0" "c.584_585dup" "r.(?)" "p.(Glu196Trpfs*14)" "10" "0000879738" "00003290" "90" "157" "-2" "157" "-2" "c.157-2A>G" "r.spl" "p.?" "" "0000879739" "00003290" "70" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Glu)" "" "0000879740" "00003290" "30" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Leu327Pro)" "" "0000879741" "00003290" "30" "493" "0" "493" "0" "c.493A>C" "r.(?)" "p.(Asn165His)" "" "0000879742" "00003290" "50" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Ser457Ile)" "" "0000879744" "00003290" "70" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Glu85Gln)" "" "0000879745" "00003290" "70" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Glu85Gln)" "" "0000879746" "00003290" "70" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Glu85Gln)" "" "0000879771" "00003290" "70" "70" "0" "70" "0" "c.70A>T" "r.(?)" "p.(Lys24*)" "" "0000880177" "00003290" "10" "405" "17" "405" "17" "c.405+17C>T" "r.(?)" "p.(=)" "" "0000880178" "00003290" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Ile354Thr)" "" "0000892234" "00003290" "30" "180" "0" "180" "0" "c.180A>G" "r.(?)" "p.(Gln60=)" "" "0000892235" "00003290" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Ter)" "" "0000892236" "00003290" "30" "1107" "-7" "1107" "-7" "c.1107-7G>A" "r.(=)" "p.(=)" "" "0000905559" "00003290" "70" "884" "0" "884" "0" "c.884G>C" "r.(?)" "p.(Arg295Pro)" "" "0000905892" "00003290" "70" "333" "-2" "333" "-2" "c.333-2A>C" "r.spl" "p.?" "" "0000914353" "00003290" "30" "402" "0" "402" "0" "c.402T>C" "r.(?)" "p.(Asp134=)" "" "0000950436" "00003290" "30" "1603" "0" "1603" "0" "c.*43G>T" "r.(=)" "p.(=)" "" "0000967932" "00003290" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000967933" "00003290" "30" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000967936" "00003290" "50" "1300" "0" "1300" "0" "c.1300C>A" "r.(?)" "p.(Leu434Met)" "" "0000967937" "00003290" "30" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Lys)" "" "0000981393" "00003290" "70" "1541" "0" "1551" "0" "c.1541_1551del" "r.(?)" "p.(Glu514Glyfs*7)" "" "0001026496" "00003290" "70" "24" "40" "24" "40" "c.24+40C>T" "r.(=)" "p.(=)" "" "0001026497" "00003290" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0001026498" "00003290" "90" "777" "0" "778" "0" "c.777_778del" "r.(?)" "p.(Tyr259Ter)" "" "0001040544" "00003290" "50" "697" "0" "697" "0" "c.697C>G" "r.(?)" "p.(Pro233Ala)" "" "0001040545" "00003290" "50" "1300" "0" "1300" "0" "c.1300C>A" "r.(?)" "p.(Leu434Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 159 "{{screeningid}}" "{{variantid}}" "0000081044" "0000130130" "0000156254" "0000358176" "0000292463" "0000649152" "0000304751" "0000668255" "0000305608" "0000669296" "0000310110" "0000685021" "0000310111" "0000685022" "0000310112" "0000685023" "0000333407" "0000730981" "0000333407" "0000731034" "0000334644" "0000732598" "0000360036" "0000759686" "0000360037" "0000759687" "0000360038" "0000759688" "0000360041" "0000759708" "0000360044" "0000759716" "0000360266" "0000760158" "0000364658" "0000765533" "0000364911" "0000765853" "0000364911" "0000765930" "0000364964" "0000765906" "0000364973" "0000765915" "0000380556" "0000793699" "0000380557" "0000793700" "0000381497" "0000794958" "0000381567" "0000795031" "0000383431" "0000797523" "0000384293" "0000810876" "0000384307" "0000810908" "0000384307" "0000810909" "0000384314" "0000810920" "0000384314" "0000810921" "0000384324" "0000810934" "0000384324" "0000810935" "0000384335" "0000810951" "0000384336" "0000810952" "0000384356" "0000810975" "0000384418" "0000811051" "0000384453" "0000811113" "0000384454" "0000811114" "0000384455" "0000811115" "0000384456" "0000811116" "0000384457" "0000811117" "0000384458" "0000811118" "0000384537" "0000811249" "0000384538" "0000811250" "0000384539" "0000811251" "0000384564" "0000811282" "0000384566" "0000811284" "0000384567" "0000811285" "0000384568" "0000811286" "0000384574" "0000811292" "0000384575" "0000811293" "0000384582" "0000811305" "0000384583" "0000811307" "0000384597" "0000811337" "0000384600" "0000811344" "0000384601" "0000811346" "0000384887" "0000811706" "0000384887" "0000811717" "0000385897" "0000813062" "0000385897" "0000813063" "0000385898" "0000813064" "0000385899" "0000813065" "0000385900" "0000813066" "0000385953" "0000813155" "0000385958" "0000813168" "0000385959" "0000813171" "0000386006" "0000813223" "0000386007" "0000813225" "0000386008" "0000813227" "0000386009" "0000813229" "0000386025" "0000813249" "0000386026" "0000813250" "0000386029" "0000813256" "0000386038" "0000813269" "0000386044" "0000813280" "0000386045" "0000813281" "0000386046" "0000813285" "0000386046" "0000813286" "0000386065" "0000813329" "0000386482" "0000814023" "0000386512" "0000814059" "0000386530" "0000814097" "0000386547" "0000814119" "0000386549" "0000814124" "0000386561" "0000814148" "0000386571" "0000814165" "0000386572" "0000814166" "0000386579" "0000814175" "0000386604" "0000814225" "0000386609" "0000814238" "0000386817" "0000814571" "0000386825" "0000814580" "0000387166" "0000815039" "0000387174" "0000815049" "0000388111" "0000816269" "0000388703" "0000841601" "0000388771" "0000817529" "0000388775" "0000817533" "0000389038" "0000817831" "0000389735" "0000818969" "0000389768" "0000819025" "0000389810" "0000819069" "0000390032" "0000819377" "0000390032" "0000820628" "0000390051" "0000819396" "0000390074" "0000819419" "0000390074" "0000820639" "0000390081" "0000819426" "0000390137" "0000819482" "0000390137" "0000820658" "0000390971" "0000820316" "0000394020" "0000824914" "0000394020" "0000824924" "0000396273" "0000827842" "0000396274" "0000827843" "0000396279" "0000827848" "0000396283" "0000827852" "0000396283" "0000827897" "0000396285" "0000827898" "0000396289" "0000827858" "0000396820" "0000828506" "0000397810" "0000830020" "0000397810" "0000830021" "0000397812" "0000830022" "0000397812" "0000830023" "0000397814" "0000830024" "0000397814" "0000830025" "0000397816" "0000830026" "0000397816" "0000830027" "0000397818" "0000830028" "0000397818" "0000830029" "0000408915" "0000845926" "0000408928" "0000845942" "0000408929" "0000845943" "0000419633" "0000879728" "0000419634" "0000879729" "0000419635" "0000879730" "0000419636" "0000879731" "0000419637" "0000879732" "0000419638" "0000879733" "0000419639" "0000879734" "0000419640" "0000879735" "0000419641" "0000879736" "0000419642" "0000879737" "0000419643" "0000879738" "0000419644" "0000879739" "0000419645" "0000879740" "0000419646" "0000879741" "0000419647" "0000879742" "0000419648" "0000879744" "0000419649" "0000879745" "0000419650" "0000879746" "0000419661" "0000879771" "0000419953" "0000880177" "0000419954" "0000880178" "0000427977" "0000905559" "0000428233" "0000905892"