### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPHP1) # 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}}" "NPHP1" "nephronophthisis 1 (juvenile)" "2" "q13" "unknown" "NG_008287.1" "UD_132118400344" "" "https://www.LOVD.nl/NPHP1" "" "1" "7905" "4867" "607100" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NPHP1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-05-29 12:20:28" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014731" "NPHP1" "transcript variant 1" "004" "NM_000272.3" "" "NP_000263.2" "" "" "" "-94" "2657" "2202" "110962639" "110880913" "" "0000-00-00 00:00:00" "" "" "00025683" "NPHP1" "transcript variant 3" "002" "NM_001128178.1" "" "NP_001121650.1" "" "" "" "-94" "2489" "2034" "110962639" "110880913" "00006" "2022-01-23 11:46:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39" "00377" "SLSN" "Senior-Loken syndrome (SLSN)" "AR" "266900" "" "" "" "00006" "2014-05-02 10:22:56" "00006" "2021-12-10 21:51:32" "00567" "JBTS4" "Joubert syndrome, type 4 (JBTS-4)" "AR" "609583" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NPHP1" "00139" "NPHP1" "00374" "NPHP1" "00377" "NPHP1" "00567" ## Individuals ## Do not remove or alter this header ## ## Count = 187 "{{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}}" "00001814" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00292228" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292229" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292230" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302717" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P46" "00302718" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P48" "00302720" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P50" "00309243" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309244" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00331978" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat115" "00334098" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "631" "00358809" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "yes" "United States" "" "0" "" "" "" "RC2-0311" "00358811" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR888-0311" "00358817" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "44/311" "00358818" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR704-0311" "00363565" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "M" "" "Canada" "" "0" "" "" "French-Canadian" "Fam476Pat1310,476" "00363566" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Fam604Pat1712,604" "00363567" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Fam669Pat1915,669" "00372297" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW019-3" "00372298" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW023-1" "00372299" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW229-3" "00372300" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW247-3" "00372301" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW264-3" "00372512" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "689" "00373759" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373760" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373761" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373762" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373763" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373764" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "yes" "Morocco" "" "0" "" "" "" "" "00373765" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373766" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373767" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373768" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "Unknown 2nd variant" "" "" "France" "" "0" "" "" "" "" "00373769" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "yes" "Senegal" "" "0" "" "" "" "" "00373770" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373771" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373772" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373773" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373774" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00374557" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5367" "00375418" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#010" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00377678" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 66" "M" "" "United States" "" "0" "" "" "" "438" "00377679" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 67" "F" "" "United States" "" "0" "" "" "" "463" "00377680" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 67" "M" "" "United States" "" "0" "" "" "" "462" "00379715" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N1" "00379716" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N3" "00379717" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N4" "00379718" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N7" "00379719" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N8" "00379721" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N13" "00381721" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00382828" "" "" "" "2" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "no" "" "" "0" "" "" "white" "" "00382829" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "no" "" "" "0" "" "" "white" "" "00382830" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "no" "" "" "0" "" "" "Italian" "" "00385240" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "France" "" "0" "" "" "" "" "00385277" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385635" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "RC2-03" "00385636" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "" "" "0" "" "" "N.European" "AR704-03" "00385637" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "" "" "0" "" "" "N.European" "AR704-04" "00385638" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "Israel" "" "0" "" "" "Israeli" "44/3" "00385639" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "Israel" "" "0" "" "" "Israeli" "44/4" "00385640" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "" "" "0" "" "" "Latino" "AR888-03" "00385641" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "RC1-03" "00385642" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "N.European" "DM012-003" "00385643" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "R1-04" "00385644" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "R1-05" "00385645" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "AR082-03" "00386897" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2940_004525" "00387503" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "Excels in school" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00388030" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27788217}" "" "F" "" "United States" "" "0" "" "" "" "5" "00388141" "" "" "" "1" "" "00000" "{PMID:Qi_2017:28624958}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00388499" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14009753" "00388509" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14015751" "00388510" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14018818" "00388511" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15008560" "00390471" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G006020" "00391178" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "140" "00395889" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F306" "00399833" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "806" "00399834" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "837" "00399835" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1005" "00399836" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "899" "00399837" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "458" "00399838" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "652" "00399839" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "877" "00399840" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1003" "00399841" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1010" "00399842" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "911" "00399843" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "909" "00399844" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "612" "00399845" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "602" "00399846" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1012" "00399847" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1018" "00399848" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1020" "00399849" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1021" "00399850" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1024" "00399851" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1027" "00399852" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1028" "00407360" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F275" "00407361" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F41" "00407362" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F419" "00407363" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F1158" "00407364" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F530" "00407365" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "two individuals from this family" "?" "no" "Germany" "" "0" "" "" "" "F446-1" "00407366" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "two individuals from this family" "?" "no" "Germany" "" "0" "" "" "" "F446-2" "00407367" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F472" "00407368" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "United States" "" "0" "" "" "" "F464" "00407369" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Czech Republic" "" "0" "" "" "" "F783" "00407370" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F194" "00407371" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "yes" "Switzerland" "" "0" "" "" "" "F1405" "00407646" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-104" "00407650" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-39" "00407655" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-57" "00407657" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-6" "00407665" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-92" "00407666" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-1" "00418768" "" "" "" "1" "" "00000" "{PMID:Gheissari 2015:25851290}" "" "M" "" "Iran" "" "0" "" "" "Iranian" "A5234" "00418769" "" "" "" "1" "" "00000" "{PMID:Gheissari 2015:25851290}" "" "F" "" "Iran" "" "0" "" "" "Iranian" "A5237" "00418771" "" "" "" "1" "" "00000" "{PMID:Betz 2000:10839884}" "family F410, proband" "M" "" "" "" "0" "" "" "" "Patient 1" "00418772" "" "" "" "1" "" "00000" "{PMID:Betz 2000:10839884}" "family F232, proband" "M" "" "" "" "0" "" "" "" "Patient 2" "00418773" "" "" "" "1" "" "00000" "{PMID:Takano 2002:12699867}" "" "M" "" "" "" "0" "" "" "" "?" "00418776" "" "" "" "1" "" "00000" "{PMID:Parisi 2004:15138899}" "" "F" "" "" "" "0" "" "" "" "K76-1" "00418777" "" "" "" "1" "" "00000" "{PMID:Parisi 2004:15138899}" "" "F" "" "" "" "0" "" "" "" "K76-2" "00418778" "" "" "" "1" "" "00000" "{PMID:Parisi 2004:15138899}" "" "M" "" "" "" "0" "" "" "" "K84-1" "00418779" "" "" "" "1" "" "00000" "{PMID:Parisi 2004:15138899}" "" "M" "" "" "" "0" "" "" "" "K89-1" "00418781" "" "" "" "1" "" "00000" "{PMID:Castori 2005:15689444}" "" "F" "no" "" "" "0" "" "" "Italian" "?" "00418782" "" "" "" "1" "" "00000" "{PMID:Caridi 2006:16762963}" "" "F" "" "Italy" "" "0" "" "" "Italian" "13" "00418783" "" "" "" "1" "" "00000" "{PMID:Caridi 2006:16762963}" "" "M" "" "Italy" "" "0" "" "" "Italian" "14" "00418784" "" "" "" "1" "" "00000" "{PMID:Caridi 2006:16762963}" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00418785" "" "" "" "1" "" "00000" "{PMID:Caridi 2006:16762963}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00418804" "" "" "" "1" "" "00000" "{PMID:Bollee 2006:16782989}" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00418805" "" "" "" "1" "" "00000" "{PMID:Bollee 2006:16782989}" "" "F" "" "" "" "0" "" "" "" "Patient 2" "00418806" "" "" "" "1" "" "00000" "{PMID:Bollee 2006:16782989}" "sister of patient 4" "F" "" "" "" "0" "" "" "" "Patient 3" "00418807" "" "" "" "1" "" "00000" "{PMID:Bollee 2006:16782989}" "brother of patient 3" "M" "" "" "" "0" "" "" "" "Patient 4" "00418813" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 1 (article in French)" "F" "" "" "" "0" "" "" "" "1_II:2" "00418814" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 1 (article in French)" "F" "" "" "" "0" "" "" "" "1_II:3" "00418821" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F9, individual II-1" "M" "" "Germany" "" "0" "" "" "" "F9_II-1" "00418822" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F9, individual II-2" "F" "" "Germany" "" "0" "" "" "" "F9_II-2" "00418823" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F194, individual II-1" "M" "" "Germany" "" "0" "" "" "" "F194_II-1" "00418824" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F906, individual II-2" "F" "" "Russia" "" "0" "" "" "" "F906_II-2" "00418825" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F1114, individual II-1" "M" "" "Hungary" "" "0" "" "" "" "F1114_II-1" "00418826" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F1114, individual II-2" "F" "" "Hungary" "" "0" "" "" "" "F1114_II-2" "00418844" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2202, individual II1; 14 more individuals described without homozygous deletion" "M" "" "Egypt" "" "0" "" "" "Egyptian" "A2202 II1" "00418845" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2228, individual II3; 14 more individuals described without homozygous deletion" "F" "" "Egypt" "" "0" "" "" "Egyptian" "A2228 II3" "00418846" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2325, individual II1; 14 more individuals described without homozygous deletion" "M" "" "Egypt" "" "0" "" "" "Egyptian" "A2325 II1" "00418847" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2325, individual II2; 14 more individuals described without homozygous deletion" "M" "" "Egypt" "" "0" "" "" "Egyptian" "A2325 II2" "00418848" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2371, individual II1; 14 more individuals described without homozygous deletion" "M" "" "Egypt" "" "0" "" "" "Egyptian" "A2371 II1" "00418849" "" "" "" "1" "" "00000" "{PMID:Soliman 2012:22982934}" "family A2413, individual II6; 14 more individuals described without homozygous deletion" "F" "" "Egypt" "" "0" "" "" "Egyptian" "A2413 II6" "00418850" "" "" "" "1" "" "00000" "{PMID:Deacon 2013:23683649}" "" "" "" "" "" "0" "" "" "" "?" "00418863" "" "" "" "1" "" "00000" "{PMID:Gyung Kang 2015:25401970}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "?" "00418864" "" "" "" "1" "" "00000" "{PMID:Gyung Kang 2015:25401970}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "?" "00418865" "" "" "" "1" "" "00000" "{PMID:Gyung Kang 2015:25401970}" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "?" "00418866" "" "" "" "1" "" "00000" "{PMID:Gyung Kang 2015:25401970}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "?" "00418867" "" "" "" "1" "" "00000" "{PMID:Gyung Kang 2015:25401970}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "?" "00418870" "" "" "" "1" "" "00000" "{PMID:Chan 2016:27316287}" "" "M" "" "" "" "0" "" "" "" "Case 1" "00418871" "" "" "" "1" "" "00000" "{PMID:Chan 2016:27316287}" "" "M" "" "" "" "0" "" "" "" "Case 2" "00418872" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 10" "" "" "" "" "0" "" "" "" "F10" "00418873" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 12" "" "" "" "" "0" "" "" "" "F12" "00418874" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 15" "" "" "" "" "0" "" "" "" "F15" "00418875" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 63" "" "" "" "" "0" "" "" "" "F63" "00418876" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 67" "" "" "" "" "0" "" "" "" "F67" "00418877" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 70" "" "" "" "" "0" "" "" "" "F70" "00418878" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 84" "" "" "" "" "0" "" "" "" "F84" "00418879" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 97" "" "" "" "" "0" "" "" "" "F97" "00418880" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 158" "" "" "" "" "0" "" "" "" "F158" "00418881" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 36" "" "" "" "" "0" "" "" "" "F36" "00418882" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 38" "" "" "" "" "0" "" "" "" "F38" "00418883" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 249" "" "" "" "" "0" "" "" "" "F249" "00418884" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 106" "" "" "" "" "0" "" "" "" "F106" "00418885" "" "" "" "1" "" "00000" "{PMID:Javorszky 2017:28002029}" "family 203" "" "" "" "" "0" "" "" "" "F203" "00418886" "" "" "" "1" "" "00000" "{PMID:Koyama 2017:28347285}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "?" "00418887" "" "" "" "1" "" "00000" "{PMID:Amiri 2016:28509138}" "grandparents related; parents first-degree cousins and asymptomatic except history of hypothyroidism in the mother" "M" "yes" "" "" "0" "" "" "" "?" "00418888" "" "" "" "1" "" "00000" "{PMID:Abdelwahed 2019:31402777}" "" "M" "yes" "" "" "0" "" "" "Tunisian" "patient 1" "00418889" "" "" "" "1" "" "00000" "{PMID:Abdelwahed 2019:31402777}" "" "F" "yes" "" "" "0" "" "" "Tunisian" "patient 2" "00419450" "" "" "" "1" "" "00000" "{PMID:Ning 2021:33306870}" "" "M" "" "" "" "0" "" "" "" "?" "00420588" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F306" "00447192" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-245" "00447279" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1150" "00448830" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "F" "" "Japan" "" "0" "" "" "" "Pat43" "00448832" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "F" "" "Japan" "" "0" "" "" "" "Pat47" "00448869" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2021:34013113}" "" "" "" "Japan" "" "0" "" "" "" "Pat1107" "00448871" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2021:34013113}" "" "" "" "Japan" "" "0" "" "" "" "Pat883" "00448872" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2021:34013113}" "" "" "" "Japan" "" "0" "" "" "" "Pat897" "00448873" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2021:34013113}" "" "" "" "Japan" "" "0" "" "" "" "Pat1207" "00465300" "" "" "" "1" "" "00006" "{PMID:Zhang 2022:35958498}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 187 "{{individualid}}" "{{diseaseid}}" "00001814" "00112" "00292228" "00198" "00292229" "00198" "00292230" "00198" "00302717" "04222" "00302718" "04222" "00302720" "04222" "00309243" "04214" "00309244" "04214" "00331978" "04214" "00334098" "04214" "00358809" "04212" "00358811" "04212" "00358817" "04212" "00358818" "04212" "00363565" "05109" "00363566" "05109" "00363567" "05109" "00372297" "05109" "00372298" "05109" "00372299" "05109" "00372300" "05109" "00372301" "05109" "00372512" "04214" "00373759" "04214" "00373760" "04214" "00373761" "04214" "00373762" "04214" "00373763" "04214" "00373764" "04214" "00373765" "04214" "00373766" "04214" "00373767" "04214" "00373768" "04214" "00373769" "04214" "00373770" "04214" "00373771" "04214" "00373772" "04214" "00373773" "04214" "00373774" "04214" "00374557" "00198" "00375418" "04214" "00375427" "04214" "00377678" "04214" "00377679" "04214" "00377680" "04214" "00379715" "04214" "00379716" "04214" "00379717" "04214" "00379718" "04214" "00379719" "04214" "00379721" "04214" "00381721" "04214" "00382828" "04214" "00382829" "04214" "00382830" "04214" "00385240" "04214" "00385277" "04214" "00385635" "04214" "00385636" "04214" "00385637" "04214" "00385638" "04214" "00385639" "04214" "00385640" "04214" "00385641" "04214" "00385642" "04214" "00385643" "04214" "00385644" "04214" "00385645" "04214" "00386897" "04214" "00387503" "04214" "00388030" "04214" "00388141" "04214" "00388499" "04214" "00388509" "04214" "00388510" "04214" "00388511" "04214" "00390471" "04214" "00391178" "04214" "00395889" "04214" "00399833" "06892" "00399834" "06892" "00399835" "06892" "00399836" "06892" "00399837" "06892" "00399838" "06892" "00399839" "06892" "00399840" "06892" "00399841" "06892" "00399842" "06892" "00399843" "06892" "00399844" "06892" "00399845" "06892" "00399846" "06892" "00399847" "06892" "00399848" "06892" "00399849" "06892" "00399850" "06892" "00399851" "06892" "00399852" "06892" "00407360" "04214" "00407361" "04214" "00407362" "04214" "00407363" "04214" "00407364" "04214" "00407365" "04214" "00407366" "04214" "00407367" "04214" "00407368" "04214" "00407369" "04214" "00407370" "04214" "00407371" "04214" "00407646" "04214" "00407650" "04214" "00407655" "04214" "00407657" "04214" "00407665" "04214" "00407666" "04214" "00418768" "00374" "00418769" "00374" "00418771" "00374" "00418772" "00374" "00418773" "00374" "00418776" "00567" "00418777" "00567" "00418778" "00567" "00418779" "00567" "00418781" "00567" "00418782" "00567" "00418783" "00567" "00418784" "00567" "00418785" "00567" "00418804" "00374" "00418805" "00374" "00418806" "00374" "00418807" "00374" "00418813" "00374" "00418814" "00374" "00418821" "00374" "00418822" "00374" "00418823" "00374" "00418824" "00374" "00418825" "00374" "00418826" "00374" "00418844" "00374" "00418845" "00374" "00418846" "00374" "00418847" "00374" "00418848" "00374" "00418849" "00374" "00418850" "05109" "00418863" "00374" "00418864" "00374" "00418865" "00374" "00418866" "00374" "00418867" "00374" "00418870" "05109" "00418871" "05109" "00418872" "00374" "00418873" "00374" "00418874" "00374" "00418875" "00374" "00418876" "00374" "00418877" "00374" "00418878" "00374" "00418879" "00374" "00418880" "00374" "00418881" "00374" "00418882" "00374" "00418883" "00374" "00418884" "00374" "00418885" "00374" "00418886" "05109" "00418887" "00377" "00418888" "00377" "00418889" "00377" "00419450" "00377" "00420588" "04214" "00447192" "00198" "00447279" "00198" "00448830" "04222" "00448832" "04222" "00448869" "04222" "00448871" "04222" "00448872" "04222" "00448873" "04222" "00465300" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00374, 00377, 00567, 04212, 04214, 04222, 05109, 06892 ## Count = 163 "{{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}}" "0000229801" "04222" "00302717" "03601" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "NPHP1" "nephronophthisis" "" "0000229802" "04222" "00302718" "03601" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "NPHP1" "unspecific cystic kidney disease" "" "0000229804" "04222" "00302720" "03601" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "NPHP1" "nephronophthisis" "" "0000234563" "04214" "00309243" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000234564" "04214" "00309244" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000250169" "04214" "00331978" "00000" "Familial, autosomal dominant" "49y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000252283" "04214" "00334098" "00000" "Familial, autosomal recessive" "45y" "clinical category IB4" "" "" "" "" "" "" "" "" "" "Senior Loken syndrome" "" "0000254024" "04212" "00358809" "00000" "Unknown" "6y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254026" "04212" "00358811" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254032" "04212" "00358817" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254033" "04212" "00358818" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000258915" "05109" "00363565" "00000" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258916" "05109" "00363566" "00000" "Familial, autosomal recessive" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258917" "05109" "00363567" "00000" "Familial, autosomal recessive" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267618" "05109" "00372297" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267619" "05109" "00372298" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267620" "05109" "00372299" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267621" "05109" "00372300" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267622" "05109" "00372301" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267827" "04214" "00372512" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000268982" "04214" "00373759" "00008" "Familial, autosomal recessive" "" "Normal (10y); visual impairment; nystagmus; mental retardation; Autism, ptosis" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis" "" "0000268983" "04214" "00373760" "00008" "Familial, autosomal recessive" "" "ESRD (17y); visual impairment" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis" "" "0000268984" "04214" "00373761" "00008" "Familial, autosomal recessive" "" "ESRD (15y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis" "" "0000268985" "04214" "00373762" "00008" "Familial, autosomal recessive" "" "CRF (12y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268986" "04214" "00373763" "00008" "Familial, autosomal recessive" "" "ESRD (13y); cogan oculomotor apraxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268987" "04214" "00373764" "00008" "Familial, autosomal recessive" "" "ESRD (7y); visual impairment; nystagmus; mental retardation; Convulsions" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268988" "04214" "00373765" "00008" "Familial, autosomal recessive" "" "ESRD (7y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268989" "04214" "00373766" "00008" "Familial, autosomal recessive" "" "ESRD (9y); nystagmus; mental retardation" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268990" "04214" "00373767" "00008" "Familial, autosomal recessive" "" "ESRD (12y); mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000268991" "04214" "00373768" "00008" "Familial, autosomal recessive" "" "ESRD (8y); visual impairment; cogan oculomotor apraxia; cerebellar ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000268992" "04214" "00373769" "00008" "Familial, autosomal recessive" "" "ESRD (8y)" "" "" "" "" "" "" "" "" "" "" "" "0000268993" "04214" "00373770" "00008" "Familial, autosomal recessive" "" "normal (7y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "0000268994" "04214" "00373771" "00008" "Familial, autosomal recessive" "" "CRF (8y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "0000268995" "04214" "00373772" "00008" "Familial, autosomal recessive" "" "ESRD (10y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "0000268996" "04214" "00373773" "00008" "Familial, autosomal recessive" "" "UCD (5y); cerebellar ataxia; molar tooth sign; Polydactyly" "" "" "" "" "" "" "" "" "" "" "" "0000268997" "04214" "00373774" "00008" "Familial, autosomal recessive" "" "ESRD (18y); visual impairment; cogan oculomotor apraxia; mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000269767" "00198" "00374557" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000270632" "04214" "00375418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272830" "04214" "00377678" "00000" "Familial, autosomal recessive" "" "kidney disease, oculomotor apraxia" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272831" "04214" "00377679" "00000" "Familial, autosomal recessive" "" "kidney disease, retinal degeneration" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272832" "04214" "00377680" "00000" "Familial, autosomal recessive" "" "kidney disease, oculomotor apraxia, retinal degeneration, vessel attenuation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000273560" "04214" "00379715" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000273561" "04214" "00379716" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000273562" "04214" "00379717" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000273563" "04214" "00379718" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000273564" "04214" "00379719" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000273566" "04214" "00379721" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000275563" "04214" "00381721" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000276684" "04214" "00382828" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276685" "04214" "00382829" "00000" "Familial, autosomal recessive" "17y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276686" "04214" "00382830" "00000" "Familial, autosomal recessive" "3y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000279036" "04214" "00385240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279073" "04214" "00385277" "00000" "Familial, autosomal recessive" "5y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, neonatal hypotonia, visual impairment" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279430" "04214" "00385635" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, hypogonadism, developmental delay, nephronophthisis" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279431" "04214" "00385636" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279432" "04214" "00385637" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279433" "04214" "00385638" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay, born with one kidney; chronic renal failure; kidney transplantation" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279434" "04214" "00385639" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279435" "04214" "00385640" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay, impaired renal function; kidney cysts; enlarged kidney" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279436" "04214" "00385641" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279437" "04214" "00385642" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279438" "04214" "00385643" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279439" "04214" "00385644" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279440" "04214" "00385645" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa," "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000280697" "04214" "00386897" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281066" "04214" "00387503" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281625" "04214" "00388030" "00000" "Familial, autosomal recessive" "" "Infantile nystagmus, poor vision from birth, non-recordable ERG" "8y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000281735" "04214" "00388141" "00000" "Familial, autosomal recessive" "10y" "polydipsia, polyuria, kidney malformations (renal cysts), renal dysfunction, retinal degeneration, cognitive impairment, polydactyly, enamel hypoplasia, short stature and myocardial damage." "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282051" "04214" "00388499" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282061" "04214" "00388509" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282062" "04214" "00388510" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282063" "04214" "00388511" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000284009" "04214" "00390471" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000284620" "04214" "00391178" "00000" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289051" "04214" "00395889" "00000" "Unknown" "51y4m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299714" "04214" "00407360" "00000" "Familial, autosomal recessive" "18y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299715" "04214" "00407361" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299716" "04214" "00407362" "00000" "Familial, autosomal recessive" "12y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299717" "04214" "00407363" "00000" "Familial, autosomal recessive" ">11y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299718" "04214" "00407364" "00000" "Familial, autosomal recessive" ">6y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299719" "04214" "00407365" "00000" "Familial, autosomal recessive" "13y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299720" "04214" "00407366" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299721" "04214" "00407367" "00000" "Familial, autosomal recessive" "47y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299722" "04214" "00407368" "00000" "Familial, autosomal recessive" "48y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299723" "04214" "00407369" "00000" "Familial, autosomal recessive" "47y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299724" "04214" "00407370" "00000" "Familial, autosomal recessive" "31y" "extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299725" "04214" "00407371" "00000" "Familial, autosomal recessive" "9y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299793" "04214" "00407646" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 14, extra-renal manifestations: retinal dystrophy" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299797" "04214" "00407650" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 12.7, extra-renal manifestations: retinal dystrophy, nystagmus" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299802" "04214" "00407655" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 13, extra-renal manifestations: retinal dystrophy, nystagmus" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299804" "04214" "00407657" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 9.9" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299812" "04214" "00407665" "00000" "Familial, autosomal recessive" "" "chronic kidney disease, extra-renal manifestations: myopia" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299813" "04214" "00407666" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 8.1, extra-renal manifestations: retinal dystrophy" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000310063" "00374" "00418768" "00000" "Familial, autosomal recessive" "12y" "ophthalmic signs: refractory disturbances; modality: medical renal replacement therapy; cysts on ultrasound: yes; histopathology: yes" "7y" "" "polyuria and polydipsia" "" "" "" "" "" "nephronophthisis" "" "" "0000310064" "00374" "00418769" "00000" "Familial, autosomal recessive" "17y" "ophthalmic signs: refractory disturbances; modality: renal transplantation; cysts on ultrasound: yes; histopathology: no data" "14y" "" "acute on chronic renal failure" "" "" "" "" "" "nephronophthisis" "" "" "0000310067" "00374" "00418771" "00000" "Familial, autosomal recessive" "21y" "5y: diagnosed with ocular motor apraxia, confirmed by reexamination at 19y, with strabismus concomitans convergens alternans; visual acuity, 1y: 0.15; 21y right/left eye: 0.4 / 0.5; no fundus abnormalities; 7y: polyuria and polydipsia; 20y: kidney biopsy confirmed the diagnosis of nephronophthisis; serum creatinine: 300 umol/L; creatinine clearance: 33 mL/min/m2, proteinuria 0.8 g/24 h; treated for mild arterial hypertension; no retinitis pigmentosa and optical nerve coloboma" "5y" "" "ocular motor apraxia" "" "" "" "" "" "nephronophthisis with ocular motor apraxia type Cogan" "" "" "0000310068" "00374" "00418772" "00000" "Familial, autosomal recessive" "13y" "1y: diagnosed with ocular motor apraxia; 10y: defect in the production of voluntary saccades and an impairment of horizontal attraction movements with compensatory jerking head movements; strabismus convergens alternans and hyperopia; no other neurologic abnormality; 9y: nephronophthisis: polyuria, polydipsia, anemia (9.2 g/dL), and elevated serum creatinine (159 umol/L).; renal ultrasonography: high echogenicity and small cysts at the corticomedullary junction; 11y: kidney allograft; no retinitis pigmentosa and optical nerve coloboma" "" "" "" "" "" "" "" "" "nephronophthisis with ocular motor apraxia type Cogan" "" "" "0000310069" "00374" "00418773" "00000" "Isolated (sporadic)" "11y" "mild motor developmental delay during his early developmental years; acquired head control at 4m, sitting unassisted at 10m, crawling at 12m, walking unassisted at 18m; development beyond 2y: within the normal range; 11m: diagnosed as having congenital nystagmus and hyperopic astigmatism; 10y: complaints of general fatigue - microscopic hematuria; elevated serum creatinine level at 8.07 mg/dl, and BUN at 150.8 mg/dl, indicating a renal failure state; renal ultrasonography: small cysts at the corticomedullary junction - diagnosis of juvenile nephronophthisis; hemodialysis ; neurologic examination: mild truncal ataxia, dysmetria, tremor, awkwardness of tandem gait, and gaze paretic nystagmus; oculomotor apraxia not found; muscle tone: normal, deep tendon reflex: normal; plantar reflex: flexed, no retinitis pigmentosa or coloboma; intelligence test (WISC-R: Japanese Wechsler Intelligence Scale for Children-Revised): full scale IQ of 87, verbal IQ of 94, and performance IQ of 83; no other neurologic abnormality; magnetic resonance imaging: hypoplasia of the brainstem and vermis, enlargement of the fourth ventricle of which maximum height in the midsagital view was 18.5 mm; measurements of brain structures: t\'; (maximum width on the line through the intercolliculus point) and z (width on the line from the right to the left border points between the tegmentum and crus cerebri): shorter than those of normal age matched controls; w\'; (maximum width in the middle portion of the pons from the floor of the fourth ventricle to the basis of the pons), u (maximum width between the left most and right most outsides of the cerebral peduncle) and v (width between the left and the right cerebellopontine angles): no" "" "" "" "" "" "" "" "" "nephronophthisis with ocular motor apraxia type Cogan" "" "" "0000310073" "00567" "00418776" "00000" "Familial, autosomal recessive" "11y" "nephronophthisis: present; age at end-stage renal disease: 10y; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: present (mild); developmental delay" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310074" "00567" "00418777" "00000" "Familial, autosomal recessive" "8y" "nephronophthisis: absent; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: not examined; developmental delay" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310075" "00567" "00418778" "00000" "Familial, autosomal recessive" "17y" "nephronophthisis: present; age at end-stage renal disease: 9y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: present (mild); developmental delay" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310076" "00567" "00418779" "00000" "Familial, autosomal recessive" "15y" "nephronophthisis: present; age at end-stage renal disease: 12y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: absent; developmental delay" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310077" "00567" "00418781" "00000" "Familial, autosomal recessive" "3y" "no breathing abnormalities reported during the perinatal period; no gross dysmorphisms; able to sit unassisted at the age of 12m, to pronounce simple words at 16m; to walk at 20m; 3y neurological evaluation: hypotonia, mild psychomotor delay, oculomotor apraxia, and ataxic gait; brain magnetic resonance imaging: molar tooth sign with cerebellar vermis hypoplasia, narrowing of the isthmus and elongation of the superior cerebellar peduncles; first year of life: patient developed mild polyuria; urine analysis: low specific gravity (1006) in the absence of sediment abnormalities or proteinuria; renal ultrasonography and serum creatinine levels: (0.4 mg/ dl) normal; maximal urine osmolarity after water restriction: low (579 mOsm/kg/H2O2; normal values .800 mOsm/kg/H2O2), indicating a reduced urinary concentrating ability; renal biopsy not performed; ophthalmologic assessment: severe visual impairment and retinal pigmentary changes; electroretinogram: significantly delayed and attenuated mainly in its photopic component with present flash visual evoked potentials; liver function tests, a liver ultrasound scan, and a standard karyotype: normal" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310079" "00567" "00418782" "00000" "Familial, autosomal recessive" "15y" "end-stage renal disease: 9y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic" "8y" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310080" "00567" "00418783" "00000" "Familial, autosomal recessive" "19y" "end-stage renal disease: creatinine 3 mg%; HD/TX: no/no; urine osmolality: low; kidney size: small/hyperechoic" "12y" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310081" "00567" "00418784" "00000" "Familial, autosomal recessive" "21y" "end-stage renal disease: 14y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic" "5y" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310082" "00567" "00418785" "00000" "Familial, autosomal recessive" "29y" "end-stage renal disease: 12y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic" "3y" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310101" "00374" "00418804" "00000" "Familial, autosomal recessive" "" "serum creatinine rate (mmol/l): 261; calculated glomerular filtration rate (ml/min): 29; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 150/90; late enuresis: +; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy" "" "19y" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310102" "00374" "00418805" "00000" "Familial, autosomal recessive" "" "serum creatinine rate (mmol/l): 225; calculated glomerular filtration rate (ml/min): 25; proteinuria (g/day): 0.2; haematuria: -; blood pressure (mmhg): 120/75; late enuresis: -; polyuria and polydipsia: -; radiological features: kidneys size: normal; cysts: 1 cortical (1 cm); extra renal-disorders:no" "" "22y" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310103" "00374" "00418806" "00000" "Familial, autosomal recessive" "" "serum creatinine rate (mmol/l): 442; calculated glomerular filtration rate (ml/min): 12; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 115/70; late enuresis: +; polyuria and polydipsia: -; radiological features: kidneys size: reduced; cysts: 1 cortical (1 cm); extra renal-disorders:no" "" "22y" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310104" "00374" "00418807" "00000" "Familial, autosomal recessive" "" "serum creatinine rate (mmol/l): 419; calculated glomerular filtration rate (ml/min): 16; proteinuria (g/day): 1.6; haematuria: -; blood pressure (mmhg): 130/80; late enuresis: -; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy, neurologic bladder" "" "25y" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310110" "00374" "00418813" "00000" "Familial, autosomal recessive" "34y" "age at renal failure: 19y; age at end-stage renal failure: 19y; no retinal dystrophy" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310111" "00374" "00418814" "00000" "Familial, autosomal recessive" "31y" "age at renal failure: 11y; age at end-stage renal failure: 11y; no retinal dystrophy" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310118" "00374" "00418821" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 7y; extrarenal manifestations: no data available" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310119" "00374" "00418822" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 11y; extrarenal manifestations: no data available" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310120" "00374" "00418823" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 31y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310121" "00374" "00418824" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 13y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310122" "00374" "00418825" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310123" "00374" "00418826" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 17y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310141" "00374" "00418844" "00000" "Familial, autosomal recessive" "3y6m" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 2y8m (hemodialysis); cysts on ultrasound: +; histopathologic triad: present; bone age: 2y6m" "1y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310142" "00374" "00418845" "00000" "Familial, autosomal recessive" "11y" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): -; cysts on ultrasound: +; histopathologic triad: not done; bone age: 7y2m" "4y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310143" "00374" "00418846" "00000" "Familial, autosomal recessive" "12y" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 12y (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: 8y" "7y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310144" "00374" "00418847" "00000" "Familial, autosomal recessive" "10y" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): 10y10m (renal transplantation); cysts on ultrasound: 0; histopathologic triad: present; bone age: 6y" "4y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310145" "00374" "00418848" "00000" "Familial, autosomal recessive" "9y" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: seizures, ocularnonemotor apraxia, retinitis pigmentosa, mental retardation, molar tooth sign; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 9y (hemodialysis); cysts on ultrasound: 0; histopathologic triad: not done; bone age: 5y6m" "4y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310146" "00374" "00418849" "00000" "Familial, autosomal recessive" "10y6m" "initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 10y6m (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: y" "4y" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310147" "05109" "00418850" "00000" "Familial, autosomal recessive" "11m" "developmental delay, possible seizures; no breathing abnormalities during the perinatal period; ophthalmological examination: fixation central, steady, maintained in both eyes; orthotropic, with full ductions in response to vestibular stimulation induced by forced head rotation; unable to initiate horizontal saccades and performed horizontal head thrusts to change fixation, consistent with congenital ocular motor apraxia; external, slit-lamp and funduscopic examination: normal, with no coloboma or signs of a retinal dystrophy; magnetic resonance imaging of the brain with gadolinium: initially interpreted as normal; further review disclosed mild dysplasia of the superior cerebellar vermis and hypertrophy of the superior cerebellar peduncles consistent with a \"\"molar tooth\"\" deformity; 5y: best-corrected visual acuity: 20/20 in both eyes; no change in the remainder of ophthalmologic findings; remained delayed in her developmental milestones but participated in physical and occupational the" "" "" "" "" "" "" "" "" "Joubert syndrome with congenital ocular motor apraxia" "" "" "0000310161" "00374" "00418863" "00000" "Familial, autosomal recessive" "19y6m" "age at time of presentation: 7y11m; serum creatinine (mg/dl): 6; haemoglobin (g/dl): 8.1; follow-up data: age at end-stage renal disease (years): 7y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 17y; ophthalmological symptoms: impaired night vision, strabismus; decreased visual acuity: present; age at retinopathy (years): 17y; loss of central vision: absent; ophthalmological examination: retinal degeneration" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310162" "00374" "00418864" "00000" "Familial, autosomal recessive" "25y6m" "age at time of presentation: 15y5m; serum creatinine (mg/dl): 2.4; haemoglobin (g/dl): 10.2; follow-up data: age at end-stage renal disease (years): 18y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 20y6m; ophthalmological symptoms: impaired visual acuity; decreased visual acuity: present; age at retinopathy (years): 22y6m; loss of central vision: present; ophthalmological examination: small parafoveal flecks, maculopathy" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310163" "00374" "00418865" "00000" "Familial, autosomal recessive" "19y5m" "age at time of presentation: 12y11m; serum creatinine (mg/dl): 20.3; haemoglobin (g/dl): 3.8; follow-up data: age at end-stage renal disease (years): 12y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 8y; ophthalmological symptoms: nystagmus, amblyopia; decreased visual acuity: present; age at retinopathy (years): 17y6m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310164" "00374" "00418866" "00000" "Familial, autosomal recessive" "15y6m" "age at time of presentation: 10y6m; serum creatinine (mg/dl): 2.1; haemoglobin (g/dl): 9.7; follow-up data: age at end-stage renal disease (years): 11y1m; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 2y; ophthalmological symptoms: high myopia; decreased visual acuity: present; age at retinopathy (years): ; loss of central vision: absent; ophthalmological examination: absent" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310165" "00374" "00418867" "00000" "Familial, autosomal recessive" "17y5m" "age at time of presentation: 14y; serum creatinine (mg/dl): 16.5; haemoglobin (g/dl): 3.7; follow-up data: age at end-stage renal disease (years): 14y; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 3y; ophthalmological symptoms: amblyopia, strabismus; decreased visual acuity: present; age at retinopathy (years): 14y5m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy, choroidal silence" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310168" "05109" "00418870" "00000" "Familial, autosomal recessive" "" "born after normal pregnancies at term with normal birth weights and Apgar score; 1y9m: presented with unusual eye movements and central hypotonia; psychological assessment: functioning at a 14-month level according to the Bayley Scales of Infant Development; receptive and expressive language skills appropriate for 14-16 months of age; gross motor development: appropriate for 10 months of age; examination of both eyes: normal; same eye movement disorder as seen in the brother; 2y5m: examined by an ophthalmologist diagnosed with ocular motor apraxia without strabismus; used head thrusts to overcome impaired horizontal eye movements; able to fix and follow with each eye binocularly; attempting to fixate on a near object, he would head thrust to either side; fundus examination findings: normal; head circumference: 50th centile, height: 90th centile, and weight: +4 SD; wide-based gait to compensate for severe hypotonia; head CT scan and electroencephalogram: normal; able to say about 20 words, but unable to form simple 3-word sentences; presented at age 11 years with renal failure caused by juvenile nephronophthisis and subsequently underwent renal transplantation; elevated plasma creatinine, but no renal symptoms the previous year; full-field electroretinograms 13y: panretinal dysfunction affecting cone-driven responses, photopic b-wave amplitude reductions less pronounced, scotopic responses: normal; confirmed 2 years later; no complaints of nyctalopia or photophobia; Ishihara colour plate testing: normal; magnetic resonance imaging of the brain in adulthood: molar tooth deformity (cerebellar vermis hypoplasia and thinned superior cerebellar peduncles) in keeping with Joubert syndrome" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310169" "05109" "00418871" "00000" "Familial, autosomal recessive" "" "born after normal pregnancies at term with normal birth weights and Apgar score; first assessment, age 7.5 months growth measurements: within normal limits; severe hypotonia; fine and gross motor development: delayed; functioning at 4-6 months of development; coherence tomography (CT) scan of the head: an area of low density anterior to the left frontal horn; no comments made on the cerebellum, which is not adequately imaged with CT; magnetic resonance imaging: not obtained; 9m: eye examination: either eye would fixate and follow with the opposite eye occluded; same eye movement disorder as seen in the younger brother (records not available); 1y2m: examined by an ophthalmologist diagnosed with ocular motor apraxia without strabismus; eye movement disorder: milder, able to fix and follow; he would only occasionally head thrust; remainder of eye examination: normal; cycloplegic refraction:+2.50 both eyes; head circumference: 98th centile; weight: 95th centile; height, 75th centile; karyotype, plasma amino acids, urine organic acids, electrolytes, haemoglobin, white cell count, long chain fatty acids, plasma carnitine, plasma lactate, and serum creatinine kinase: normal; congenital multicystic kidney: removed at age 1 year; 9y: presented with weight loss, lethargy, and mild renal failure; juvenile nephronophthisis diagnosed with kidney biopsy; mild cerebellar symptoms, using a wheelchair outside home and school; older brother; full-field electroretinogram 11y: panretinal dysfunction affecting cone-driven responses, photopic b-wave amplitude reductions more pronounced - amplitude reductions in the pure rod b-wave and in both the mixed a- and b-waves; confirmed 2 years later; no complaints of nyctalopia or photophobia; Ishihara colour plate testing: normal; magnetic resonance imaging of the brain in adulthood: molar tooth deformity (cerebellar vermis hypoplasia and thinned superior cerebellar peduncles) in keeping with Joubert syndrome" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310170" "00374" "00418872" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310171" "00374" "00418873" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310172" "00374" "00418874" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310173" "00374" "00418875" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310174" "00374" "00418876" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310175" "00374" "00418877" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310176" "00374" "00418878" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310177" "00374" "00418879" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310178" "00374" "00418880" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310179" "00374" "00418881" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310180" "00374" "00418882" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310181" "00374" "00418883" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310182" "00374" "00418884" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310183" "00374" "00418885" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310184" "05109" "00418886" "00000" "Familial, autosomal recessive" "" "28y: referred to the neurology department for evaluation of her impaired walking and standing; 8y: living-donor renal transplantation; visual acuity had gradually decreased from infancy, leading to complete blindness; ophthalmologic examination: no light perception in either eye; no blepharoptosis or coloboma; funduscopic examination: optic disc pallor; neurological examination: revealed truncal ataxia without apparent limb ataxia; deep tendon reflexes: normal in all extremities, no pathological reflexes; Wechsler Adult Intelligence Scale-III verbal IQ score: 75; axial brain magnetic resonance imaging: mildly thickened and elongated superior cerebellar peduncles, a deepened interpeduncular fossa, and vermian hypoplasia, resulting in the molar tooth sign" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310185" "00377" "00418887" "00000" "Familial, autosomal recessive" "27y" "27y: gait problems, severe pruritus since 10 days prior time of admission; medical history: bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age, diagnosed as Leber congenital amaurosis by ophthalmologist; visited by endocrinologist 2 years before admission on nephrology ward due to hypofunctioning state of thyroid gland and started levothyroxine for him; at the same time had pancytopenia/bicytopenia and normal renal function; several months later: hyperfunctioning thyroid state, gait problems, sever pruritus, elevated serum urea and creatinin levels (started hemodialysis); brother: developed intestinal obstruction in postnatal period and then dilated cardiomyopathy and hypothyroidism (started with levothyroxine, death at 5y); patient well-developed, undernourished young male, stable normal blood pressure; eye examination: pale conjunctiva, bilateral blindness, torsional nystagmus; neck: asymmetric thyromegaly with nodularity and (confirmed by neck sonography); cdiac examination: normal except grade II over VI (GII/VI) systolic murmur in apex and left lower sternal border; abdominal examination: no hepatosplenomegaly; patient alert and oriented to time, place and person and had decreased deep tendon reflexes in neurological examination; skin: pale, dry and scaly; diffuse, patchy and brownish discoloration in back; laboratory analysis: pancytopenia (white blood cells: 3.2x103/ ul, hemoglobin: 7.6 g/dl, plt: 130x 103/ul), elevated serum urea and creatinine (200, 10.7 mg/dl), adequate urinary output, serum Na+ and K+: normal (Na+: 138 mEq/l, K+: 4.8 mEq/l); hypocalcemia, hypomagnesaemia and hyperphosphatemia and hyperuricemia: (Ca2+: 5 mg/dl, Alb: 5.1 g/dl, Pi: 5.9 mg/dl, Mg2+: 1.1 mEq/l, uric acid : 7.2 mg/dl); thyroid function test: elevated serum FT4 (54 pmol/l), FT3 (23 pmol/l), decreased TSH (<0.004 mIU/l); urine analysis: microscopic hematuria (red blood cells: 10-12/hpf) and proteinuria (1+): detected; renal sonography: small-sized kidneys [right kidney: 83 mm, left kidney: 84 mm (normal kidney size: 85-130 mm)] without cyst formation; brain magnetic resonance imaging: no molar tooth sign, but mild brain atrophy and small arachnoid cyst; upper gastrointestinal endoscopy: chronic gastritis; echocardiography: 1+ mitral regurgitation; direct ophthalmoscopy: bilateral cataract, pigmentary changes as bony spicule in peripheral retina (retinitis pigmentosa) with optic nerve atrophy and vascular attenuation; underwent hemodialysis and then kidney transplantation 3,5 years ago; currently, kidney allograft function acceptable with serum creatinin of 1.4 mg per dl" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN)" "" "" "0000310186" "00377" "00418888" "00000" "Familial, autosomal recessive" "13y" "consanguineous parents; only sibling left alive, two other children deceased because of a congenital heart defect (CHD) and meningitis; pregnancy and delivery: uneventful; early signs and symptoms: growth retardation (size -3DS), 12y: polyuria and polydipsia; clinical examination: normal blood pressure (110/60 mmHg), weight: 31 kg, length 145 cm; ophthalmological examination: reduced visual acuity; pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; biochemical analysis: absence of proteinuria, of microscopic hematuria and urinary tract infection; blood urea level: 9.9 mmol/L and serum creatinine at diagnosis: 151.42 umol/L, blood sodium level: abnormally low (120 mmol/L; possibility of renal involvement, confirmed by renal ultrasonography, which displayed a reduced kidney size with hyperechogenicity, loss of corticomedullary differentiation and with absence of cysts; renal biopsy: not performed because of kidney size and children\'s age; no extrarenal inv; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydactyly, skeletal dysplasia, situs inversus/cardiac" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000310187" "00377" "00418889" "00000" "Familial, autosomal recessive" "06y" "pregnancy and delivery: uneventful; diagnosis: dysmorphic face (high eyebrow, anteverted nostrils), abdominal ballooning, anemia, growth retardation (-2DS), polyuria and polydipsia; weight: 25 Kg, length: 130 cm, blood pressure: normal (100/60 mmHg); urine analysis: no proteinuria, absence of microscopic hematuria and urinary tract infection; blood urea level: 8.55 mmol/L, serum creatinine at diagnosis: 138 umol/L, blood sodium level: 125 mmol/L; because of the high rate of urea, ultrasound image: a small kidney size with hyperechogenicity, no cyst; ophthalmological examination, pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; renal biopsy: not performed because of kidney size and child\'s age; no extrarenal involvement; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydaceletal dysplasia, situs inversus/cardiac" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000310736" "00377" "00419450" "00000" "Familial, autosomal recessive" "9y" "visual acuity was 20/20 in both eyes; slit-lamp examination: anterior segment of both eyes normal; color fundus photographs: both eyes unremarkable, without pigmentary changes, lesions or scars in the macula or periphery; visual field: no focal defects in both eyes; full-field electroretinogram after 30 minutes of dark adaptation, scotopic and photopic flash electroretinogram:decreased rod and cone response in both eyes; amplitude of the b-wave: reduced for the rod response (0.01, 3.0, and 10.0 scotopic) without an implicit time delay; b value of the dark-adapted electroretinogram (0.01): 36 uV right eye compared with 140 uV in the control patient; electroretinogram (3.0): 120 uV right eye compared with 212 uV in the control patient; electroretinogram (10.0): 152 uV right eye compared with 217 uV in the control patient; amplitude of both a- and b-waves of the cone response: bilaterally reduced compared to the age-matched control; b value of the light-adapted electroretinogram: 50 uV right eye in the patient and 143 uV in the control patient; no remarkable changes in 30-Hz flicker in either eye. histopathological analysis of kidney (nephrectomy): H&E staining of the patient\'s kidney sections showed a diffuse sclerosing tubulointerstitial process with a predominance of tortuous and atrophic tubules at the corticomedullary junction; enlarged cortical cyst formation present in the corticomedullary region, higher magnification - a thickened and multilayered tubular basement membrane (TBM); transmission electron microscopy: used to determine the impact of NPHP1 mutation on human primary cilia and TBM of renal epithelial cells: revealed an irregular TBM pattern, consisting frequently of two or three membrane layers which were folded excessively, while the lining of the tubular cysts was flattened; fewer primary cilia on the apical side of the tubular epithelial cells indicating renal cilia dysfunction, disorganized cilia in renal tubular cells of NPHP1 deficient kidney" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN)" "" "" "0000311836" "04214" "00420588" "00000" "Familial, autosomal recessive" "51y4m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000336391" "00198" "00447192" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336478" "00198" "00447279" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000338005" "04222" "00448830" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "MCKD" "" "0000338007" "04222" "00448832" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "MCKD" "" "0000338044" "04222" "00448869" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "nephronophthisis" "" "0000338046" "04222" "00448871" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "polycystic kidney disease" "" "0000338047" "04222" "00448872" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "polycystic kidney disease" "" "0000338048" "04222" "00448873" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHP1" "polycystic kidney disease" "" "0000350853" "05109" "00465300" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "JBTS4" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 187 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001617" "00001814" "1" "00102" "00102" "2013-08-08 22:53:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000293396" "00292228" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293397" "00292229" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293398" "00292230" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303843" "00302717" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303844" "00302718" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303846" "00302720" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000310388" "00309243" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310389" "00309244" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000333197" "00331978" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000335324" "00334098" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000360039" "00358809" "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" "" "" "0000360047" "00358817" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360048" "00358818" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000364793" "00363565" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364794" "00363566" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364795" "00363567" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373526" "00372297" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373527" "00372298" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373528" "00372299" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373529" "00372300" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373530" "00372301" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373745" "00372512" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374992" "00373759" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374993" "00373760" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374994" "00373761" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374995" "00373762" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374996" "00373763" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374997" "00373764" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374998" "00373765" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374999" "00373766" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375000" "00373767" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375001" "00373768" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375002" "00373769" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375003" "00373770" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375004" "00373771" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375005" "00373772" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375006" "00373773" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375007" "00373774" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375751" "00374557" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376615" "00375418" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378882" "00377678" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378883" "00377679" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378884" "00377680" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000380917" "00379715" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000380918" "00379716" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000380919" "00379717" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000380920" "00379718" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000380921" "00379719" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000380923" "00379721" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000382937" "00381721" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000384044" "00382828" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384045" "00382829" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384046" "00382830" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000386469" "00385240" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386506" "00385277" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386864" "00385635" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386865" "00385636" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386866" "00385637" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386867" "00385638" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386868" "00385639" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386869" "00385640" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386870" "00385641" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386871" "00385642" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386872" "00385643" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386873" "00385644" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386874" "00385645" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000388125" "00386897" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000388729" "00387503" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000389269" "00388030" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;arrayCGH;SEQ" "DNA" "blood" "" "0000389380" "00388141" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000389740" "00388499" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389750" "00388509" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389751" "00388510" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389752" "00388511" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000391712" "00390471" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392420" "00391178" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000397128" "00395889" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000401076" "00399833" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401077" "00399834" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401078" "00399835" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401079" "00399836" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401080" "00399837" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401081" "00399838" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401082" "00399839" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401083" "00399840" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401084" "00399841" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401085" "00399842" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401086" "00399843" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401087" "00399844" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401088" "00399845" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401089" "00399846" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401090" "00399847" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401091" "00399848" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401092" "00399849" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401093" "00399850" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401094" "00399851" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401095" "00399852" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408608" "00407360" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP5" "0000408609" "00407361" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP6" "0000408610" "00407362" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP7" "0000408611" "00407363" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP8" "0000408612" "00407364" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP9" "0000408613" "00407365" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP10" "0000408614" "00407366" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP11" "0000408615" "00407367" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP12" "0000408616" "00407368" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP13" "0000408617" "00407369" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP14" "0000408618" "00407370" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP15" "0000408619" "00407371" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP16" "0000408898" "00407646" "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" "0000408902" "00407650" "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" "0000408907" "00407655" "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" "0000408909" "00407657" "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" "0000408917" "00407665" "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" "0000408918" "00407666" "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" "0000420065" "00418768" "1" "00000" "03840" "2022-10-06 11:53:06" "03840" "2022-10-06 12:29:41" "arraySEQ;PCR;SEQ;SEQ-NG-I" "DNA" "" "Fluidigm 48.48-Access Array system patient samples were screened for mutations in 15 known NPHP genes, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, TMEM67, TTC21B, WDR19, ANKS6, and IFT172" "0000420066" "00418769" "1" "00000" "03840" "2022-10-06 11:53:06" "03840" "2022-10-06 12:30:28" "arraySEQ;PCR;SEQ;SEQ-NG-I" "DNA" "blood" "Fluidigm 48.48-Access Array system patient samples were screened for mutations in 15 known NPHP genes, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, TMEM67, TTC21B, WDR19, ANKS6, and IFT172" "0000420069" "00418771" "1" "00000" "03840" "2022-10-06 12:46:10" "" "" "PCR;SEQ" "DNA" "" "" "0000420070" "00418772" "1" "00000" "03840" "2022-10-06 12:46:10" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000420071" "00418773" "1" "00000" "03840" "2022-10-06 13:29:13" "" "" "PCR" "DNA" "blood" "" "0000420074" "00418776" "1" "00000" "03840" "2022-10-06 14:02:35" "" "" "PCR" "DNA" "blood" "" "0000420075" "00418777" "1" "00000" "03840" "2022-10-06 14:02:35" "" "" "PCR" "DNA" "blood" "" "0000420076" "00418778" "1" "00000" "03840" "2022-10-06 14:02:35" "" "" "PCR" "DNA" "blood" "" "0000420077" "00418779" "1" "00000" "03840" "2022-10-06 14:02:35" "" "" "PCR" "DNA" "blood" "" "0000420078" "00418781" "1" "00000" "03840" "2022-10-06 15:14:16" "" "" "PCR" "DNA" "blood" "" "0000420079" "00418782" "1" "00000" "03840" "2022-10-06 15:42:17" "" "" "PCR" "DNA" "blood" "" "0000420080" "00418783" "1" "00000" "03840" "2022-10-06 15:42:17" "" "" "PCR" "DNA" "blood" "" "0000420081" "00418784" "1" "00000" "03840" "2022-10-06 15:42:17" "" "" "PCR" "DNA" "blood" "" "0000420082" "00418785" "1" "00000" "03840" "2022-10-06 15:42:17" "" "" "PCR" "DNA" "blood" "" "0000420101" "00418804" "1" "00000" "03840" "2022-10-07 11:23:57" "" "" "PCR" "DNA" "blood" "" "0000420102" "00418805" "1" "00000" "03840" "2022-10-07 11:23:57" "" "" "PCR" "DNA" "blood" "" "0000420103" "00418806" "1" "00000" "03840" "2022-10-07 11:23:57" "" "" "PCR" "DNA" "blood" "" "0000420104" "00418807" "1" "00000" "03840" "2022-10-07 11:23:57" "" "" "PCR" "DNA" "blood" "" "0000420110" "00418813" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "PCR" "DNA" "blood" "" "0000420111" "00418814" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "PCR" "DNA" "blood" "" "0000420118" "00418821" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420119" "00418822" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420120" "00418823" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420121" "00418824" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420122" "00418825" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420123" "00418826" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420141" "00418844" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420142" "00418845" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420143" "00418846" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420144" "00418847" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420145" "00418848" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420146" "00418849" "1" "00000" "03840" "2022-10-07 23:39:38" "" "" "PCR" "DNA" "blood" "" "0000420147" "00418850" "1" "00000" "03840" "2022-10-09 19:50:11" "" "" "?" "DNA" "" "" "0000420160" "00418863" "1" "00000" "03840" "2022-10-10 10:18:52" "" "" "?" "DNA" "" "" "0000420161" "00418864" "1" "00000" "03840" "2022-10-10 10:18:52" "" "" "?" "DNA" "" "" "0000420162" "00418865" "1" "00000" "03840" "2022-10-10 10:18:52" "" "" "?" "DNA" "" "" "0000420163" "00418866" "1" "00000" "03840" "2022-10-10 10:18:52" "" "" "?" "DNA" "" "" "0000420164" "00418867" "1" "00000" "03840" "2022-10-10 10:18:52" "" "" "?" "DNA" "" "" "0000420167" "00418870" "1" "00000" "03840" "2022-10-10 11:03:16" "" "" "?" "DNA" "" "" "0000420168" "00418871" "1" "00000" "03840" "2022-10-10 11:03:16" "" "" "?" "DNA" "" "" "0000420169" "00418872" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420170" "00418873" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420171" "00418874" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420172" "00418875" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420173" "00418876" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420174" "00418877" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420175" "00418878" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420176" "00418879" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420177" "00418880" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420178" "00418881" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420179" "00418882" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420180" "00418883" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420181" "00418884" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420182" "00418885" "1" "00000" "03840" "2022-10-10 15:19:11" "" "" "?" "DNA" "" "" "0000420183" "00418886" "1" "00000" "03840" "2022-10-10 15:49:37" "" "" "?" "DNA" "" "" "0000420184" "00418887" "1" "00000" "03840" "2022-10-10 17:17:24" "" "" "SEQ-NG;PCR" "DNA" "" "whole exome sequencing-based copy number variant (CNV) plus polymerase chain reaction/gel electrophoresis analysis" "0000420185" "00418888" "1" "00000" "03840" "2022-10-10 20:55:31" "" "" "MLPA;PCR" "DNA" "" "whole exome sequencing-based copy number variant (CNV) plus polymerase chain reaction/gel electrophoresis analysis" "0000420186" "00418889" "1" "00000" "03840" "2022-10-10 20:55:31" "" "" "MLPA;PCR" "DNA" "" "whole exome sequencing-based copy number variant (CNV) plus polymerase chain reaction/gel electrophoresis analysis" "0000420753" "00419450" "1" "00000" "03840" "2022-10-19 20:36:23" "" "" "SEQ" "DNA" "" "" "0000421897" "00420588" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000448769" "00447192" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448856" "00447279" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000450421" "00448830" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450423" "00448832" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450460" "00448869" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450462" "00448871" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450463" "00448872" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450464" "00448873" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466948" "00465300" "1" "00006" "00006" "2025-05-08 15:03:58" "00006" "2025-05-08 15:07:56" "MLPA;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 177 "{{screeningid}}" "{{geneid}}" "0000303843" "NPHP1" "0000303844" "NPHP1" "0000303846" "NPHP1" "0000310388" "NPHP1" "0000310389" "NPHP1" "0000333197" "NPHP1" "0000335324" "NPHP1" "0000360039" "BBS2" "0000360039" "NPHP1" "0000360041" "BBS1" "0000360041" "BBS4" "0000360041" "BBS5" "0000360041" "BBS7" "0000360041" "NPHP1" "0000360047" "BBS7" "0000360047" "CEP290" "0000360047" "NPHP1" "0000360048" "BBS10" "0000360048" "NPHP1" "0000360048" "TTC8" "0000364793" "NPHP1" "0000364794" "NPHP1" "0000364795" "NPHP1" "0000373526" "NPHP1" "0000373527" "NPHP1" "0000373528" "NPHP1" "0000373529" "NPHP1" "0000373530" "NPHP1" "0000373745" "NPHP1" "0000374992" "AHI1" "0000374992" "CEP290" "0000374992" "NPHP1" "0000374993" "AHI1" "0000374993" "CEP290" "0000374993" "NPHP1" "0000374994" "AHI1" "0000374994" "CEP290" "0000374994" "NPHP1" "0000374995" "AHI1" "0000374995" "CEP290" "0000374995" "NPHP1" "0000374996" "AHI1" "0000374996" "CEP290" "0000374996" "NPHP1" "0000374997" "AHI1" "0000374997" "CEP290" "0000374997" "NPHP1" "0000374998" "AHI1" "0000374998" "CEP290" "0000374998" "NPHP1" "0000374999" "AHI1" "0000374999" "CEP290" "0000374999" "NPHP1" "0000375000" "NPHP1" "0000375001" "NPHP1" "0000375002" "NPHP1" "0000375003" "NPHP1" "0000375004" "NPHP1" "0000375005" "NPHP1" "0000375006" "NPHP1" "0000375007" "NPHP1" "0000375751" "NPHP1" "0000378882" "NPHP1" "0000378883" "NPHP1" "0000378884" "NPHP1" "0000380917" "NPHP1" "0000380918" "NPHP1" "0000380919" "NPHP1" "0000380920" "NPHP1" "0000380921" "NPHP1" "0000380923" "NPHP1" "0000382937" "NPHP1" "0000384044" "NPHP1" "0000384045" "NPHP1" "0000384046" "NPHP1" "0000386469" "MKKS" "0000386506" "BBS1" "0000386864" "BBS2" "0000386865" "BBS10" "0000386866" "BBS10" "0000386867" "BBS7" "0000386868" "BBS7" "0000386869" "BBS1" "0000386870" "BBS10" "0000386871" "BBS10" "0000386872" "BBS9" "0000386873" "BBS9" "0000386874" "BBS9" "0000388125" "NPHP1" "0000388729" "IFT140" "0000389269" "NPHP1" "0000389380" "MKKS" "0000389740" "NPHP1" "0000389750" "NPHP1" "0000389751" "NPHP1" "0000389752" "NPHP1" "0000391712" "NPHP1" "0000392420" "NPHP1" "0000397128" "NPHP1" "0000408608" "NPHP1" "0000408609" "NPHP1" "0000408610" "NPHP1" "0000408611" "NPHP1" "0000408612" "NPHP1" "0000408613" "NPHP1" "0000408614" "NPHP1" "0000408615" "NPHP1" "0000408616" "NPHP1" "0000408617" "NPHP1" "0000408618" "NPHP1" "0000408619" "NPHP1" "0000408898" "NPHP1" "0000408902" "NPHP1" "0000408907" "NPHP1" "0000408909" "NPHP1" "0000408917" "NPHP1" "0000408918" "NPHP1" "0000420065" "NPHP1" "0000420066" "NPHP1" "0000420069" "NPHP1" "0000420070" "NPHP1" "0000420071" "NPHP1" "0000420074" "NPHP1" "0000420075" "NPHP1" "0000420076" "NPHP1" "0000420077" "NPHP1" "0000420078" "NPHP1" "0000420079" "NPHP1" "0000420080" "NPHP1" "0000420081" "NPHP1" "0000420082" "NPHP1" "0000420101" "NPHP1" "0000420102" "NPHP1" "0000420103" "NPHP1" "0000420104" "NPHP1" "0000420110" "NPHP1" "0000420111" "NPHP1" "0000420118" "NPHP1" "0000420119" "NPHP1" "0000420120" "NPHP1" "0000420121" "NPHP1" "0000420122" "NPHP1" "0000420123" "NPHP1" "0000420141" "NPHP1" "0000420142" "NPHP1" "0000420143" "NPHP1" "0000420144" "NPHP1" "0000420145" "NPHP1" "0000420146" "NPHP1" "0000420147" "NPHP1" "0000420160" "NPHP1" "0000420161" "NPHP1" "0000420162" "NPHP1" "0000420163" "NPHP1" "0000420164" "NPHP1" "0000420167" "NPHP1" "0000420168" "NPHP1" "0000420169" "NPHP1" "0000420170" "NPHP1" "0000420171" "NPHP1" "0000420172" "NPHP1" "0000420173" "NPHP1" "0000420174" "NPHP1" "0000420175" "NPHP1" "0000420176" "NPHP1" "0000420177" "NPHP1" "0000420178" "NPHP1" "0000420179" "NPHP1" "0000420180" "NPHP1" "0000420181" "NPHP1" "0000420182" "NPHP1" "0000420183" "NPHP1" "0000420184" "NPHP1" "0000420185" "NPHP1" "0000420186" "NPHP1" "0000420753" "NPHP1" "0000421897" "NPHP1" ## 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 = 328 "{{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}}" "0000019527" "0" "55" "2" "110920625" "110920625" "subst" "0.000122068" "00102" "NPHP1_000001" "g.110920625C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.110163048C>T" "" "VUS" "" "0000245780" "0" "30" "2" "110936097" "110936097" "subst" "0.00130863" "02330" "NPHP1_000039" "g.110936097A>G" "" "" "" "NPHP1(NM_000272.3):c.232T>C (p.Y78H), NPHP1(NM_000272.4):c.232T>C (p.Y78H), NPHP1(NM_000272.5):c.232T>C (p.Y78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178520A>G" "" "likely benign" "" "0000245878" "0" "10" "2" "110962470" "110962470" "subst" "8.15022E-6" "02330" "NPHP1_000041" "g.110962470A>G" "" "" "" "NPHP1(NM_000272.5):c.69+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110204893A>G" "" "benign" "" "0000249306" "0" "30" "2" "110936097" "110936097" "subst" "0.00130863" "02325" "NPHP1_000039" "g.110936097A>G" "" "" "" "NPHP1(NM_000272.3):c.232T>C (p.Y78H), NPHP1(NM_000272.4):c.232T>C (p.Y78H), NPHP1(NM_000272.5):c.232T>C (p.Y78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178520A>G" "" "likely benign" "" "0000255192" "0" "30" "2" "110927584" "110927584" "subst" "3.69692E-5" "01943" "NPHP1_000037" "g.110927584A>C" "" "" "" "NPHP1(NM_000272.3):c.330-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110170007A>C" "" "likely benign" "" "0000293182" "0" "10" "2" "110904416" "110904416" "subst" "0.00247949" "02330" "NPHP1_000011" "g.110904416G>A" "" "" "" "NPHP1(NM_000272.3):c.1438-4C>T, NPHP1(NM_000272.4):c.1438-4C>T, NPHP1(NM_000272.5):c.1438-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110146839G>A" "" "benign" "" "0000293183" "0" "30" "2" "110881450" "110881450" "subst" "0" "02330" "NPHP1_000003" "g.110881450G>A" "" "" "" "NPHP1(NM_000272.5):c.2120C>T (p.S707L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110123873G>A" "" "likely benign" "" "0000293184" "0" "30" "2" "110927488" "110927493" "del" "0" "02330" "NPHP1_000036" "g.110927488_110927493del" "" "" "" "NPHP1(NM_000272.5):c.421_426delGAAGAG (p.E141_E142del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110169911_110169916del" "" "likely benign" "" "0000293185" "0" "30" "2" "110962503" "110962503" "subst" "0.000297103" "02330" "NPHP1_000043" "g.110962503G>T" "" "" "" "NPHP1(NM_000272.5):c.43C>A (p.R15S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110204926G>T" "" "likely benign" "" "0000293186" "0" "50" "2" "110922744" "110922744" "subst" "0" "02330" "NPHP1_000030" "g.110922744T>C" "" "" "" "NPHP1(NM_000272.5):c.625-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165167T>C" "" "VUS" "" "0000293187" "0" "10" "2" "110922206" "110922206" "subst" "0.000430915" "02330" "NPHP1_000026" "g.110922206C>T" "" "" "" "NPHP1(NM_000272.3):c.830G>A (p.R277Q), NPHP1(NM_000272.4):c.830G>A (p.R277Q), NPHP1(NM_000272.5):c.830G>A (p.R277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164629C>T" "" "benign" "" "0000293188" "0" "30" "2" "110922176" "110922176" "subst" "0.000178773" "02330" "NPHP1_000025" "g.110922176T>C" "" "" "" "NPHP1(NM_000272.5):c.860A>G (p.N287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164599T>C" "" "likely benign" "" "0000293189" "0" "10" "2" "110922131" "110922131" "subst" "0.00013004" "02330" "NPHP1_000024" "g.110922131C>T" "" "" "" "NPHP1(NM_000272.5):c.905G>A (p.G302E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164554C>T" "" "benign" "" "0000296590" "0" "10" "2" "110922703" "110922703" "subst" "0.373578" "02325" "NPHP1_000029" "g.110922703C>T" "" "" "" "NPHP1(NM_000272.3):c.654G>A (p.E218=), NPHP1(NM_000272.4):c.654G>A (p.E218=), NPHP1(NM_000272.5):c.654G>A (p.E218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165126C>T" "" "benign" "" "0000300328" "0" "10" "2" "110920591" "110920591" "subst" "0.00354907" "02326" "NPHP1_000016" "g.110920591T>G" "" "" "" "NPHP1(NM_000272.4):c.1027+34A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163014T>G" "" "benign" "" "0000300329" "0" "90" "2" "110920625" "110920625" "subst" "0.000122068" "02326" "NPHP1_000001" "g.110920625C>T" "" "" "" "NPHP1(NM_000272.3):c.1027G>A (p.G343R), NPHP1(NM_000272.4):c.1027G>A (p.G343R), NPHP1(NM_207181.4):c.1024G>A (p.G342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163048C>T" "" "pathogenic" "" "0000300330" "0" "90" "2" "110919263" "110919263" "subst" "2.03434E-5" "02326" "NPHP1_000015" "g.110919263G>A" "" "" "" "NPHP1(NM_000272.4):c.1039C>T (p.R347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161686G>A" "" "pathogenic" "" "0000300331" "0" "10" "2" "110959026" "110959026" "subst" "0.0271273" "02326" "NPHP1_000040" "g.110959026G>T" "" "" "" "NPHP1(NM_000272.3):c.115C>A (p.P39T), NPHP1(NM_000272.4):c.115C>A (p.P39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201449G>T" "" "benign" "" "0000300332" "0" "30" "2" "110904416" "110904416" "subst" "0.00247949" "02326" "NPHP1_000011" "g.110904416G>A" "" "" "" "NPHP1(NM_000272.3):c.1438-4C>T, NPHP1(NM_000272.4):c.1438-4C>T, NPHP1(NM_000272.5):c.1438-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110146839G>A" "" "likely benign" "" "0000300333" "0" "10" "2" "110902237" "110902242" "del" "0" "02326" "NPHP1_000010" "g.110902237_110902242del" "" "" "" "NPHP1(NM_000272.4):c.1521-95_1521-90delGAGTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110144660_110144665del" "" "benign" "" "0000300335" "0" "10" "2" "110881736" "110881736" "subst" "0" "02326" "NPHP1_000004" "g.110881736G>A" "" "" "" "NPHP1(NM_000272.4):c.1930-96C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110124159G>A" "" "benign" "" "0000300336" "0" "10" "2" "110935924" "110935924" "subst" "0" "02326" "NPHP1_000038" "g.110935924G>A" "" "" "" "NPHP1(NM_000272.4):c.329+76C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178347G>A" "" "benign" "" "0000300337" "0" "30" "2" "110927433" "110927433" "subst" "8.22193E-6" "02326" "NPHP1_000035" "g.110927433T>C" "" "" "" "NPHP1(NM_000272.4):c.472A>G (p.I158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110169856T>C" "" "likely benign" "" "0000300338" "0" "10" "2" "110922814" "110922814" "subst" "0" "02326" "NPHP1_000031" "g.110922814C>G" "" "" "" "NPHP1(NM_000272.4):c.625-82G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165237C>G" "" "benign" "" "0000300339" "0" "10" "2" "110922703" "110922703" "subst" "0.373578" "02326" "NPHP1_000029" "g.110922703C>T" "" "" "" "NPHP1(NM_000272.3):c.654G>A (p.E218=), NPHP1(NM_000272.4):c.654G>A (p.E218=), NPHP1(NM_000272.5):c.654G>A (p.E218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165126C>T" "" "benign" "" "0000300340" "0" "90" "2" "110962479" "110962479" "subst" "0" "02326" "NPHP1_000042" "g.110962479G>A" "" "" "" "NPHP1(NM_000272.4):c.67C>T (p.Q23*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110204902G>A" "" "pathogenic" "" "0000300341" "0" "10" "2" "110922441" "110922441" "subst" "0" "02326" "NPHP1_000028" "g.110922441G>C" "" "" "" "NPHP1(NM_000272.4):c.729-134C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164864G>C" "" "benign" "" "0000300342" "0" "10" "2" "110922226" "110922226" "subst" "0.00820192" "02326" "NPHP1_000027" "g.110922226G>A" "" "" "" "NPHP1(NM_000272.3):c.810C>T (p.C270=), NPHP1(NM_000272.4):c.810C>T (p.C270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164649G>A" "" "benign" "" "0000300343" "0" "10" "2" "110920830" "110920830" "subst" "0" "02326" "NPHP1_000022" "g.110920830G>A" "" "" "" "NPHP1(NM_000272.4):c.940-118C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163253G>A" "" "benign" "" "0000304427" "0" "50" "2" "110920648" "110920648" "subst" "0.000939246" "01943" "NPHP1_000017" "g.110920648G>A" "" "" "" "NPHP1(NM_000272.3):c.1004C>T (p.T335M), NPHP1(NM_207181.4):c.1001C>T (p.T334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163071G>A" "" "VUS" "" "0000304428" "0" "70" "2" "110920625" "110920625" "subst" "0.000122068" "01943" "NPHP1_000001" "g.110920625C>T" "" "" "" "NPHP1(NM_000272.3):c.1027G>A (p.G343R), NPHP1(NM_000272.4):c.1027G>A (p.G343R), NPHP1(NM_207181.4):c.1024G>A (p.G342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000304429" "0" "30" "2" "110959026" "110959026" "subst" "0.0271273" "01943" "NPHP1_000040" "g.110959026G>T" "" "" "" "NPHP1(NM_000272.3):c.115C>A (p.P39T), NPHP1(NM_000272.4):c.115C>A (p.P39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201449G>T" "" "likely benign" "" "0000304430" "0" "30" "2" "110901179" "110901179" "subst" "0.000645837" "01943" "NPHP1_000009" "g.110901179C>T" "" "" "" "NPHP1(NM_000272.3):c.1637G>A (p.R546K, p.(Arg546Lys)), NPHP1(NM_000272.4):c.1637G>A (p.R546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110143602C>T" "" "likely benign" "" "0000304431" "0" "30" "2" "110901100" "110901100" "subst" "0.0108118" "01943" "NPHP1_000008" "g.110901100G>A" "" "" "" "NPHP1(NM_000272.3):c.1697+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110143523G>A" "" "likely benign" "" "0000304433" "0" "10" "2" "110922703" "110922703" "subst" "0.373578" "01943" "NPHP1_000029" "g.110922703C>T" "" "" "" "NPHP1(NM_000272.3):c.654G>A (p.E218=), NPHP1(NM_000272.4):c.654G>A (p.E218=), NPHP1(NM_000272.5):c.654G>A (p.E218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165126C>T" "" "benign" "" "0000304434" "0" "10" "2" "110922226" "110922226" "subst" "0.00820192" "01943" "NPHP1_000027" "g.110922226G>A" "" "" "" "NPHP1(NM_000272.3):c.810C>T (p.C270=), NPHP1(NM_000272.4):c.810C>T (p.C270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164649G>A" "" "benign" "" "0000304435" "0" "10" "2" "110920729" "110920729" "subst" "0.010402" "01943" "NPHP1_000021" "g.110920729C>T" "" "" "" "NPHP1(NM_000272.3):c.940-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163152C>T" "" "benign" "" "0000304436" "0" "50" "2" "110920684" "110920684" "subst" "0.00015856" "01943" "NPHP1_000020" "g.110920684G>A" "" "" "" "NPHP1(NM_000272.3):c.968C>T (p.T323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163107G>A" "" "VUS" "" "0000304437" "0" "30" "2" "110920683" "110920683" "subst" "0.000239871" "01943" "NPHP1_000019" "g.110920683C>T" "" "" "" "NPHP1(NM_000272.3):c.969G>A (p.T323=), NPHP1(NM_000272.4):c.969G>A (p.T323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163106C>T" "" "likely benign" "" "0000327193" "0" "50" "2" "110901179" "110901179" "subst" "0.000645837" "01804" "NPHP1_000009" "g.110901179C>T" "" "" "" "NPHP1(NM_000272.3):c.1637G>A (p.R546K, p.(Arg546Lys)), NPHP1(NM_000272.4):c.1637G>A (p.R546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110143602C>T" "" "VUS" "" "0000327196" "0" "30" "2" "110907821" "110907821" "subst" "0" "01804" "NPHP1_000013" "g.110907821T>C" "" "" "" "NPHP1(NM_000272.3):c.1264A>G (p.(Ile422Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110150244T>C" "" "likely benign" "" "0000327201" "0" "50" "2" "110927414" "110927414" "subst" "0" "01804" "NPHP1_000034" "g.110927414G>T" "" "" "" "NPHP1(NM_000272.3):c.491C>A (p.(Thr164Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110169837G>T" "" "VUS" "" "0000336996" "0" "90" "2" "110904329" "110904329" "del" "8.12513E-6" "02327" "NPHP1_000044" "g.110904329del" "" "" "" "NPHP1(NM_000272.4):c.1520+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110146752del" "" "pathogenic" "" "0000336998" "0" "10" "2" "110920729" "110920729" "subst" "0.010402" "02327" "NPHP1_000021" "g.110920729C>T" "" "" "" "NPHP1(NM_000272.3):c.940-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163152C>T" "" "benign" "" "0000345248" "0" "10" "2" "110922703" "110922703" "subst" "0.373578" "02327" "NPHP1_000029" "g.110922703C>T" "" "" "" "NPHP1(NM_000272.3):c.654G>A (p.E218=), NPHP1(NM_000272.4):c.654G>A (p.E218=), NPHP1(NM_000272.5):c.654G>A (p.E218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110165126C>T" "" "benign" "" "0000346010" "0" "90" "2" "110920625" "110920625" "subst" "0.000122068" "02327" "NPHP1_000001" "g.110920625C>T" "" "" "" "NPHP1(NM_000272.3):c.1027G>A (p.G343R), NPHP1(NM_000272.4):c.1027G>A (p.G343R), NPHP1(NM_207181.4):c.1024G>A (p.G342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163048C>T" "" "pathogenic" "" "0000348430" "0" "10" "2" "110959026" "110959026" "subst" "0.0271273" "02327" "NPHP1_000040" "g.110959026G>T" "" "" "" "NPHP1(NM_000272.3):c.115C>A (p.P39T), NPHP1(NM_000272.4):c.115C>A (p.P39T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201449G>T" "" "benign" "" "0000350195" "0" "30" "2" "110936097" "110936097" "subst" "0.00130863" "02327" "NPHP1_000039" "g.110936097A>G" "" "" "" "NPHP1(NM_000272.3):c.232T>C (p.Y78H), NPHP1(NM_000272.4):c.232T>C (p.Y78H), NPHP1(NM_000272.5):c.232T>C (p.Y78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178520A>G" "" "likely benign" "" "0000508916" "0" "30" "2" "110883254" "110883254" "subst" "0.000227798" "02325" "NPHP1_000006" "g.110883254G>A" "" "" "" "NPHP1(NM_000272.3):c.1889C>T (p.S630L), NPHP1(NM_000272.4):c.1889C>T (p.S630L), NPHP1(NM_000272.5):c.1889C>T (p.S630L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110125677G>A" "" "likely benign" "" "0000508917" "0" "30" "2" "110886680" "110886680" "del" "0" "02326" "NPHP1_000046" "g.110886680del" "" "" "" "NPHP1(NM_000272.4):c.1884+91delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110129103del" "" "likely benign" "" "0000508918" "0" "10" "2" "110886689" "110886689" "dup" "0" "02326" "NPHP1_000047" "g.110886689dup" "" "" "" "NPHP1(NM_000272.4):c.1884+74dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110129112dup" "" "benign" "" "0000508919" "0" "90" "2" "110886762" "110886762" "subst" "4.08487E-6" "02326" "NPHP1_000048" "g.110886762C>A" "" "" "" "NPHP1(NM_000272.4):c.1884+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110129185C>A" "" "pathogenic" "" "0000508920" "0" "10" "2" "110886778" "110886778" "subst" "8.5599E-5" "02330" "NPHP1_000049" "g.110886778C>G" "" "" "" "NPHP1(NM_000272.5):c.1869G>C (p.V623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110129201C>G" "" "benign" "" "0000508921" "0" "30" "2" "110904416" "110904416" "subst" "0.00247949" "01943" "NPHP1_000011" "g.110904416G>A" "" "" "" "NPHP1(NM_000272.3):c.1438-4C>T, NPHP1(NM_000272.4):c.1438-4C>T, NPHP1(NM_000272.5):c.1438-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110146839G>A" "" "likely benign" "" "0000508923" "0" "50" "2" "110917729" "110917729" "subst" "3.65854E-5" "02330" "NPHP1_000051" "g.110917729C>T" "" "" "" "NPHP1(NM_000272.5):c.1226G>A (p.R409H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110160152C>T" "" "VUS" "" "0000508925" "0" "50" "2" "110917784" "110917784" "subst" "0" "01943" "NPHP1_000052" "g.110917784A>G" "" "" "" "NPHP1(NM_000272.3):c.1171T>C (p.C391R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110160207A>G" "" "VUS" "" "0000508927" "0" "30" "2" "110919267" "110919267" "subst" "8.13709E-5" "01943" "NPHP1_000054" "g.110919267T>C" "" "" "" "NPHP1(NM_000272.3):c.1035A>G (p.Q345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110161690T>C" "" "likely benign" "" "0000508929" "0" "30" "2" "110920699" "110920699" "subst" "0" "01943" "NPHP1_000056" "g.110920699A>G" "" "" "" "NPHP1(NM_000272.3):c.953T>C (p.V318A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110163122A>G" "" "likely benign" "" "0000508930" "0" "10" "2" "110922080" "110922080" "subst" "0" "02330" "NPHP1_000057" "g.110922080C>T" "" "" "" "NPHP1(NM_000272.5):c.939+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110164503C>T" "" "benign" "" "0000508931" "0" "50" "2" "110922279" "110922279" "subst" "7.31928E-5" "01943" "NPHP1_000058" "g.110922279T>C" "" "" "" "NPHP1(NM_000272.3):c.757A>G (p.K253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110164702T>C" "" "VUS" "" "0000508932" "0" "10" "2" "110922323" "110922323" "subst" "0" "02330" "NPHP1_000059" "g.110922323A>G" "" "" "" "NPHP1(NM_000272.5):c.729-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110164746A>G" "" "benign" "" "0000508934" "0" "10" "2" "110922814" "110922814" "subst" "0" "02326" "NPHP1_000061" "g.110922814C>A" "" "" "" "NPHP1(NM_000272.4):c.625-82G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110165237C>A" "" "benign" "" "0000508935" "0" "90" "2" "110926105" "110926105" "dup" "0" "01943" "NPHP1_000062" "g.110926105dup" "" "" "" "NPHP1(NM_000272.3):c.555dupA (p.P186Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110168528dup" "" "pathogenic" "" "0000508936" "0" "10" "2" "110927446" "110927446" "subst" "0.000181022" "02330" "NPHP1_000063" "g.110927446G>A" "" "" "" "NPHP1(NM_000272.5):c.459C>T (p.T153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110169869G>A" "" "benign" "" "0000508937" "0" "30" "2" "110927579" "110927579" "subst" "0" "01943" "NPHP1_000064" "g.110927579C>A" "" "" "" "NPHP1(NM_000272.3):c.330-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110170002C>A" "" "likely benign" "" "0000508938" "0" "50" "2" "110936097" "110936097" "subst" "0.00130863" "01943" "NPHP1_000039" "g.110936097A>G" "" "" "" "NPHP1(NM_000272.3):c.232T>C (p.Y78H), NPHP1(NM_000272.4):c.232T>C (p.Y78H), NPHP1(NM_000272.5):c.232T>C (p.Y78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110178520A>G" "" "VUS" "" "0000508941" "0" "10" "2" "110960031" "110960031" "subst" "0" "02326" "NPHP1_000065" "g.110960031G>A" "" "" "" "NPHP1(NM_000272.4):c.70-960C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110202454G>A" "" "benign" "" "0000508942" "0" "30" "2" "110962532" "110962532" "subst" "0.00752045" "02330" "NPHP1_000066" "g.110962532C>A" "" "" "" "NPHP1(NM_000272.3):c.14G>T (p.R5L), NPHP1(NM_000272.5):c.14G>T (p.R5L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110204955C>A" "" "likely benign" "" "0000508943" "0" "30" "2" "110962532" "110962532" "subst" "0.00752045" "01943" "NPHP1_000066" "g.110962532C>A" "" "" "" "NPHP1(NM_000272.3):c.14G>T (p.R5L), NPHP1(NM_000272.5):c.14G>T (p.R5L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110204955C>A" "" "likely benign" "" "0000606052" "0" "30" "2" "110936052" "110936052" "subst" "0" "01804" "NPHP1_000067" "g.110936052T>A" "" "" "" "NPHP1(NM_000272.3):c.277A>T (p.(Thr93Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110178475T>A" "" "likely benign" "" "0000650085" "1" "10" "2" "110901100" "110901100" "subst" "0.0108118" "03575" "NPHP1_000008" "g.110901100G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs112090979}" "Germline" "" "rs112090979" "0" "" "" "g.110143523G>A" "" "benign" "" "0000650086" "1" "50" "2" "110919181" "110919181" "subst" "0.000215665" "03575" "NPHP1_000068" "g.110919181G>A" "2/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs140469160}" "Germline" "" "rs140469160" "0" "" "" "g.110161604G>A" "" "VUS" "" "0000650087" "1" "30" "2" "110959026" "110959026" "subst" "0.0271273" "03575" "NPHP1_000040" "g.110959026G>T" "26/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs33958626}" "Germline" "" "rs33958626" "0" "" "" "g.110201449G>T" "" "likely benign" "" "0000654171" "0" "10" "2" "110886347" "110886347" "subst" "0" "01943" "NPHP1_000069" "g.110886347C>T" "" "" "" "NPHP1(NM_000272.3):c.1884+416G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110128770C>T" "" "benign" "" "0000654173" "0" "10" "2" "110919041" "110919041" "subst" "0" "01943" "NPHP1_000070" "g.110919041A>G" "" "" "" "NPHP1(NM_000272.3):c.1122+139T>C, NPHP1(NM_000272.4):c.1122+139T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110161464A>G" "" "benign" "" "0000654174" "0" "30" "2" "110922232" "110922232" "subst" "4.47234E-5" "02330" "NPHP1_000071" "g.110922232C>T" "" "" "" "NPHP1(NM_207181.4):c.804G>A (p.S268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110164655C>T" "" "likely benign" "" "0000654175" "0" "30" "2" "110927467" "110927467" "subst" "0.00097969" "01943" "NPHP1_000072" "g.110927467A>G" "" "" "" "NPHP1(NM_000272.3):c.438T>C (p.N146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110169890A>G" "" "likely benign" "" "0000654176" "0" "10" "2" "110947862" "110947862" "subst" "0" "01943" "NPHP1_000073" "g.110947862T>C" "" "" "" "NPHP1(NM_000272.3):c.144-10601A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110190285T>C" "" "benign" "" "0000654177" "0" "10" "2" "110957660" "110957660" "subst" "0" "01943" "NPHP1_000074" "g.110957660A>G" "" "" "" "NPHP1(NM_000272.3):c.143+1338T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110200083A>G" "" "benign" "" "0000667239" "3" "90" "2" "110880913" "110962639" "del" "0" "03601" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic (dominant)" "" "0000667240" "3" "90" "2" "110880913" "110962639" "del" "0" "03601" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic (dominant)" "" "0000667242" "3" "90" "2" "110880913" "110962639" "del" "0" "03601" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic (dominant)" "" "0000675992" "0" "30" "2" "110883266" "110883266" "subst" "1.62798E-5" "01943" "NPHP1_000076" "g.110883266G>A" "" "" "" "NPHP1(NM_000272.3):c.1885-8C>T, NPHP1(NM_000272.4):c.1885-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675993" "0" "30" "2" "110920673" "110920673" "subst" "3.65857E-5" "01804" "NPHP1_000077" "g.110920673T>C" "" "" "" "NPHP1(NM_000272.3):c.979A>G (p.(Ile327Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685299" "0" "90" "2" "0" "0" "" "0" "00004" "SNRNP200_000007" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_000272.4:c.1438_1597del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685300" "0" "90" "2" "0" "0" "" "0" "00004" "SNRNP200_000007" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "Whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688290" "0" "30" "2" "110902155" "110902155" "subst" "3.66139E-5" "01943" "NPHP1_000078" "g.110902155G>T" "" "" "" "NPHP1(NM_000272.3):c.1521-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688291" "0" "90" "2" "110905513" "110905519" "del" "0" "01943" "NPHP1_000079" "g.110905513_110905519del" "" "" "" "NPHP1(NM_000272.3):c.1414_1420delCTTGGAA (p.L472Ffs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688292" "0" "90" "2" "110907832" "110907832" "del" "0" "01943" "NPHP1_000080" "g.110907832del" "" "" "" "NPHP1(NM_000272.3):c.1254delT (p.L419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688293" "0" "90" "2" "110920625" "110920625" "subst" "0.000122068" "02330" "NPHP1_000001" "g.110920625C>T" "" "" "" "NPHP1(NM_000272.3):c.1027G>A (p.G343R), NPHP1(NM_000272.4):c.1027G>A (p.G343R), NPHP1(NM_207181.4):c.1024G>A (p.G342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688294" "0" "30" "2" "110936097" "110936097" "subst" "0.00130863" "02326" "NPHP1_000039" "g.110936097A>G" "" "" "" "NPHP1(NM_000272.3):c.232T>C (p.Y78H), NPHP1(NM_000272.4):c.232T>C (p.Y78H), NPHP1(NM_000272.5):c.232T>C (p.Y78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717794" "0" "50" "2" "110883254" "110883254" "subst" "0.000227798" "01943" "NPHP1_000006" "g.110883254G>A" "" "" "" "NPHP1(NM_000272.3):c.1889C>T (p.S630L), NPHP1(NM_000272.4):c.1889C>T (p.S630L), NPHP1(NM_000272.5):c.1889C>T (p.S630L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717795" "0" "30" "2" "110920620" "110920620" "subst" "0.00108666" "01943" "NPHP1_000055" "g.110920620A>G" "" "" "" "NPHP1(NM_000272.3):c.1027+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730621" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Birtel 2018:29555955}" "" "whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000733333" "1" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000733715" "2" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Stone 2017:28559085}" "" "del entire gene" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000759689" "3" "90" "2" "110875689" "110967529" "del" "0" "00000" "NPHP1_000081" "g.110875689_110967529del" "" "{PMID:Lindstrand 2016:27486776}" "" "del whole gene" "91,840 bp deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759698" "21" "90" "2" "110875689" "110967529" "del" "0" "00000" "NPHP1_000081" "g.110875689_110967529del" "" "{PMID:Lindstrand 2016:27486776}" "" "del whole gene" "91,840 bp deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759707" "21" "50" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "hypomorph" "Germline" "" "" "0" "" "" "g.110204955C>A" "" "VUS" "" "0000759722" "21" "90" "2" "110875689" "110967529" "del" "0" "00000" "NPHP1_000081" "g.110875689_110967529del" "" "{PMID:Lindstrand 2016:27486776}" "" "del whole gene" "91,840 bp deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000765700" "21" "90" "2" "110926105" "110926105" "del" "0" "00000" "NPHP1_000082" "g.110926105del" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "rs577698811" "0" "" "" "g.110168528del" "" "pathogenic (recessive)" "" "0000765701" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765702" "3" "90" "2" "110926105" "110926105" "del" "0" "00000" "NPHP1_000082" "g.110926105del" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "rs577698811" "0" "" "" "g.110168528del" "" "pathogenic (recessive)" "" "0000765738" "0" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000783506" "3" "90" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000783507" "3" "90" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000783508" "3" "90" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000783509" "3" "90" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000783510" "3" "90" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NPHP1 deletion" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000783894" "1" "50" "2" "110881472" "110881472" "subst" "4.06062E-6" "00000" "NPHP1_000083" "g.110881472C>G" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.110123895C>G" "" "VUS" "" "0000783980" "2" "50" "2" "110889312" "110889312" "subst" "4.06438E-6" "00000" "NPHP1_000084" "g.110889312T>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.110131735T>C" "" "VUS" "" "0000785982" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785984" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785986" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785988" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785990" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785993" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785996" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785998" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786001" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786002" "1" "55" "2" "110904382" "110904382" "subst" "0" "00008" "NPHP1_000086" "g.110904382C>A" "" "{PMID:Tory 2007:17409309}" "" "Del, c.1467 + 1 G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786003" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786004" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786005" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786006" "3" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786007" "1" "77" "2" "110880913" "110962639" "del" "0" "00008" "NPHP1_000085" "g.110880913_110962639del" "" "{PMID:Tory 2007:17409309}" "" "Del, hetc.1027 G>A, het." "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786008" "2" "77" "2" "110920625" "110920625" "subst" "0.000122068" "00008" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Tory 2007:17409309}" "" "Del, hetc.1027 G>A, het." "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000786010" "3" "77" "2" "110917703" "110922733" "del" "0" "00008" "NPHP1_000087" "g.110917703_110922733del" "" "{PMID:Tory 2007:17409309}" "" "Dupl ex 7–11, hom" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000787102" "3" "90" "2" "110881368" "110962545" "del" "0" "00006" "NPHP1_000088" "g.(?_110881368)_(110962545_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr2:110881368-?_110962545+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000788343" "0" "50" "2" "110881541" "110881541" "subst" "0.000142126" "00000" "NPHP1_000089" "g.110881541C>G" "" "{PMID:Katagiri 2014:25268133}" "" "G2029C" "" "Germline" "" "" "0" "" "" "g.110123964C>G" "" "VUS" "" "0000788352" "0" "50" "2" "110886786" "110886786" "subst" "3.25868E-5" "00000" "NPHP1_000090" "g.110886786G>T" "" "{PMID:Katagiri 2014:25268133}" "" "C1861A" "" "Germline" "" "rs147090619" "0" "" "" "g.110129209G>T" "" "VUS" "" "0000791788" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Brooks 2018:30055837}" "" "common NPHP1 deletion" "" "Germline" "?" "" "0" "" "" "g.?" "RCV000003688.3" "likely pathogenic" "" "0000791789" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Brooks 2018:30055837}" "" "common NPHP1 deletion" "" "Germline" "?" "" "0" "" "" "g.?" "RCV000003688.3" "likely pathogenic" "" "0000791790" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Brooks 2018:30055837}" "" "common NPHP1 deletion" "" "Germline" "?" "" "0" "" "" "g.?" "RCV000003688.3" "likely pathogenic" "" "0000794157" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000794158" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000794159" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000794160" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000794161" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000794163" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hussain 2018:30087219}" "" "" "NPHP1 deletion" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000796908" "3" "90" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Wang-2014:24154662}" "" "c.1027G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798473" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi-2006:16155189}" "" "deletion/no protein made" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798474" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi-2006:16155189}" "" "deletion/no protein made" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798475" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi-2006:16155189}" "" "deletion/no protein made" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000799621" "0" "90" "2" "110886837" "110886837" "subst" "4.0854E-6" "02327" "NPHP1_000092" "g.110886837C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799622" "0" "30" "2" "110905484" "110905484" "subst" "0.000479679" "02326" "NPHP1_000093" "g.110905484C>T" "" "" "" "NPHP1(NM_000272.4):c.1437+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799623" "0" "30" "2" "110920648" "110920648" "subst" "0.000939246" "02330" "NPHP1_000017" "g.110920648G>A" "" "" "" "NPHP1(NM_000272.3):c.1004C>T (p.T335M), NPHP1(NM_207181.4):c.1001C>T (p.T334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799624" "0" "50" "2" "110922206" "110922206" "subst" "0.000430915" "01943" "NPHP1_000026" "g.110922206C>T" "" "" "" "NPHP1(NM_000272.3):c.830G>A (p.R277Q), NPHP1(NM_000272.4):c.830G>A (p.R277Q), NPHP1(NM_000272.5):c.830G>A (p.R277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799625" "0" "30" "2" "110922740" "110922740" "dup" "0" "01943" "NPHP1_000094" "g.110922740dup" "" "" "" "NPHP1(NM_000272.3):c.625-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799626" "0" "50" "2" "110926034" "110926034" "subst" "3.25222E-5" "01943" "NPHP1_000095" "g.110926034G>C" "" "" "" "NPHP1(NM_000272.3):c.619C>G (p.L207V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799627" "0" "50" "2" "110936072" "110936072" "subst" "8.12684E-6" "01943" "NPHP1_000096" "g.110936072T>C" "" "" "" "NPHP1(NM_000272.3):c.257A>G (p.H86R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814003" "0" "50" "2" "110889360" "110889360" "subst" "0" "00000" "NPHP1_000097" "g.110889360T>C" "" "{PMID:Redin-2012:22773737}" "" "c.[1706A>G];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814066" "0" "30" "2" "110927445" "110927445" "subst" "3.70206E-5" "00000" "NPHP1_000091" "g.110927445C>T" "" "{PMID:M\'hamdi-2014:23432027}" "" "NPHP1: p.G154S" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000814655" "3" "70" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Lindstrand-2014:24746959}" "" "NPHP1 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814657" "0" "70" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Lindstrand-2014:24746959}" "" "NPHP1 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814659" "0" "70" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Lindstrand-2014:24746959}" "" "NPHP1 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814661" "0" "70" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Lindstrand-2014:24746959}" "" "NPHP1 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814663" "0" "70" "2" "110880913" "110962639" "del" "0" "00000" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Lindstrand-2014:24746959}" "" "NPHP1 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814665" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814668" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814671" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814673" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814675" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814677" "0" "70" "2" "110962532" "110962532" "subst" "0.00752045" "00000" "NPHP1_000066" "g.110962532C>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.14G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000816283" "0" "50" "2" "110880739" "110962893" "del" "0" "00000" "SNRNP200_000007" "g.110880739_110962893del" "" "{PMID:Zampaglione 2020:32037395}" "" "NPHP1 chr2:110880739_110962893del" "all variants in this gene homozygous, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000817481" "3" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bifari 2015:26359340}" "" "complete deletion of the NPHP1 gene" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000818188" "0" "90" "2" "110922734" "110922734" "subst" "0" "00000" "NPHP1_000100" "g.110922734T>C" "" "{PMID:Wang 2016:27788217}" "" "c.625-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818197" "0" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2016:27788217}" "" "Wholegenedeletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818394" "0" "50" "2" "110881541" "110881541" "subst" "0.000142126" "00000" "NPHP1_000089" "g.110881541C>G" "" "{PMID:Qi_2017:28624958}" "" "c.2029G>C" "" "Germline" "" "rs780427871" "0" "" "" "" "" "VUS" "" "0000818974" "0" "70" "2" "110881363" "110962550" "del" "0" "00000" "NPHP1_000098" "g.(?_110881363)_(110962550_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:110881363–110962550del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818986" "0" "30" "2" "110881363" "110962550" "dup" "0" "00000" "NPHP1_000099" "g.(?_110881363)_(110962550_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:110881363–110962550dup" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000818987" "0" "30" "2" "110881363" "110962550" "dup" "0" "00000" "NPHP1_000099" "g.(?_110881363)_(110962550_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:110881363–110962550dup" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000818988" "0" "30" "2" "110881363" "110962550" "dup" "0" "00000" "NPHP1_000099" "g.(?_110881363)_(110962550_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:110881363–110962550dup" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000821462" "3" "70" "2" "110853523" "110984470" "del" "0" "00000" "SNRNP200_000007" "g.110853523_110984470del" "" "{PMID:Turro 2020:32581362}" "" "chr2:g.110853523_110984470del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000822711" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gliem 2020:32646556}" "" "NPHP1 c.0, p.0" "heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000828874" "0" "90" "2" "110881412" "110881412" "subst" "0" "00000" "NPHP1_000101" "g.110881412G>A" "" "{PMID:Chen 2021:43360855}" "" "NPHP1 c.[2158C>T];[?], V1: c.2158C>T, (p.Gln720Ter)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.110123835G>A" "" "pathogenic" "ACMG" "0000834119" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834120" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834121" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834122" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834123" "11" "90" "2" "110922717" "110922717" "subst" "0" "00006" "NPHP1_000103" "g.110922717C>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.640(exon7)G>T" "" "Germline" "" "" "0" "" "" "g.110165140C>A" "" "pathogenic" "ACMG" "0000834124" "11" "70" "2" "110889303" "110889316" "del" "0" "00006" "NPHP1_000102" "g.110889303_110889316del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1751(exon17)_c.1764(exon17)delTTTATCGACAAATT" "" "Germline" "" "" "0" "" "" "g.110131726_110131739del" "" "likely pathogenic" "ACMG" "0000834125" "11" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834126" "11" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834127" "11" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834128" "21" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834129" "0" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "De novo" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834130" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834131" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834132" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834133" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834134" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834135" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834136" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834137" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834138" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834173" "2" "90" "2" "110922717" "110922717" "subst" "0" "00006" "NPHP1_000103" "g.110922717C>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.640(exon7)G>T" "" "Germline" "" "" "0" "" "" "g.110165140C>A" "" "pathogenic" "ACMG" "0000834174" "2" "70" "2" "110889303" "110889316" "del" "0" "00006" "NPHP1_000102" "g.110889303_110889316del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1751(exon17)_c.1764(exon17)delTTTATCGACAAATT" "" "Germline" "" "" "0" "" "" "g.110131726_110131739del" "" "likely pathogenic" "ACMG" "0000834175" "2" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834176" "2" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834177" "2" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834178" "2" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000834179" "0" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "exon 1-20 del" "" "De novo" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic" "ACMG" "0000845557" "21" "70" "2" "110926105" "110926105" "dup" "0" "00000" "NPHP1_000062" "g.110926105dup" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.555dupA, p.P186fsX187" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110168528dup" "" "likely pathogenic" "" "0000845558" "11" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845559" "21" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845560" "0" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "homozygous or hemizygous due to deletion on the other allele" "Unknown" "?" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845561" "11" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845562" "11" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845563" "11" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1027G>A, Splice site" "hemizygous due to deletion on the other allele" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000845564" "0" "70" "2" "110919263" "110919263" "subst" "2.03434E-5" "00000" "NPHP1_000015" "g.110919263G>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1039C>T, p.R347X" "homozygous or hemizygous due to deletion on the other allele" "Unknown" "?" "" "0" "" "" "g.110161686G>A" "" "likely pathogenic" "" "0000845565" "0" "70" "2" "110904378" "110904378" "del" "0" "00000" "NPHP1_000107" "g.110904378del" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1474delG, p.V492fsX513" "homozygous or hemizygous due to deletion on the other allele" "Unknown" "?" "" "0" "" "" "g.110146801del" "" "likely pathogenic" "" "0000845566" "0" "70" "2" "110902141" "110902142" "ins" "0" "00000" "NPHP1_000106" "g.110902141_110902142insTT" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1526__ 1527insAA, p.Y509X" "homozygous or hemizygous due to deletion on the other allele" "Unknown" "?" "" "0" "" "" "g.110144564_110144565insTT" "" "likely pathogenic" "" "0000845567" "0" "70" "2" "110889310" "110889310" "subst" "4.06474E-6" "00000" "NPHP1_000105" "g.110889310G>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.1756C>T, p.R586X" "homozygous or hemizygous due to deletion on the other allele" "Unknown" "?" "" "0" "" "" "g.110131733G>A" "" "likely pathogenic" "" "0000845568" "3" "70" "2" "110886762" "110886762" "subst" "0" "00000" "NPHP1_000104" "g.110886762C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 c.188411G>A, Splice site" "homozygous" "Germline" "yes" "" "0" "" "" "g.110129185C>T" "" "likely pathogenic" "" "0000845585" "10" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845586" "20" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845587" "10" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845588" "20" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845589" "20" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845590" "20" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Otto 2008:18076122}" "" "NPHP1 (partial?) deletion" "putative heterozygous deletion" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000845903" "3" "90" "2" "0" "0" "" "0" "00000" "NPHP1_000075" "g.?" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 Total deletion (Hom)" "homozygous" "Unknown" "?" "" "0" "" "" "g,?" "" "pathogenic" "" "0000845907" "0" "90" "2" "0" "0" "" "0" "00000" "NPHP1_000075" "g.?" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 Total deletion" "heterozygous" "Unknown" "?" "" "0" "" "" "g,?" "" "pathogenic" "" "0000845908" "0" "90" "2" "110926046" "110926046" "dup" "0" "00000" "NPHP1_000108" "g.110926046dup" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 c.609_610insC, p.Arg204Glnfs*8" "heterozygous" "Unknown" "?" "" "0" "" "" "g.110168469dup" "" "pathogenic" "" "0000845916" "3" "90" "2" "0" "0" "" "0" "00000" "NPHP1_000075" "g.?" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 Total deletion (Hom)" "homozygous" "Unknown" "?" "" "0" "" "" "g,?" "" "pathogenic" "" "0000845918" "0" "70" "2" "110881541" "110881541" "subst" "0.000142126" "00000" "NPHP1_000089" "g.110881541C>G" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 c.2029G>C, p.Glu677Gln" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.110123964C>G" "" "likely pathogenic" "" "0000845929" "3" "90" "2" "0" "0" "" "0" "00000" "NPHP1_000075" "g.?" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 Total deletion (Hom)" "homozygous" "Unknown" "?" "" "0" "" "" "g,?" "" "pathogenic" "" "0000845930" "3" "90" "2" "0" "0" "" "0" "00000" "NPHP1_000075" "g.?" "" "{PMID:Kang 2016:27491411}" "" "NPHP1 Total deletion (Hom)" "homozygous" "Unknown" "?" "" "0" "" "" "g,?" "" "pathogenic" "" "0000848918" "0" "30" "2" "110904430" "110904430" "subst" "0.000154522" "02326" "NPHP1_000109" "g.110904430T>C" "" "" "" "NPHP1(NM_000272.4):c.1438-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848919" "0" "50" "2" "110905498" "110905498" "subst" "0" "02330" "NPHP1_000110" "g.110905498G>A" "" "" "" "NPHP1(NM_207181.4):c.1429C>T (p.R477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848920" "0" "10" "2" "110922206" "110922206" "subst" "0.000430915" "02326" "NPHP1_000026" "g.110922206C>T" "" "" "" "NPHP1(NM_000272.3):c.830G>A (p.R277Q), NPHP1(NM_000272.4):c.830G>A (p.R277Q), NPHP1(NM_000272.5):c.830G>A (p.R277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857675" "0" "50" "2" "110922721" "110922723" "dup" "0" "01943" "NPHP1_000111" "g.110922721_110922723dup" "" "" "" "NPHP1(NM_000272.3):c.644_646dupAAG (p.E215dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880319" "21" "70" "2" "110880913" "110927576" "del" "0" "00000" "NPHP1_000112" "g.(?_110880913)_(110927576_110935999)del" "" "{PMID:Gheissari 2015:25851290}" "" "NPHP1 del exon 5 - exon 20" "homozygous" "Germline" "yes" "" "0" "" "" "g.(?_110123336)_(110169999_110178422)del" "" "likely pathogenic" "" "0000880320" "21" "70" "2" "110880913" "110927576" "del" "0" "00000" "NPHP1_000112" "g.(?_110880913)_(110927576_110935999)del" "" "{PMID:Gheissari 2015:25851290}" "" "NPHP1 del exon 5 - exon 20" "homozygous" "Germline" "yes" "" "0" "" "" "g.(?_110123336)_(110169999_110178422)del" "" "likely pathogenic" "" "0000880322" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Betz 2000:10839884}" "" "NPHP1 total deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880323" "11" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Betz 2000:10839884}" "" "NPHP1 total deletion" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880324" "21" "70" "2" "110920625" "110920625" "subst" "0.000122068" "00000" "NPHP1_000001" "g.110920625C>T" "" "{PMID:Betz 2000:10839884}" "" "NPHP1 G-->A transition at nt 1027" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110163048C>T" "" "likely pathogenic" "" "0000880325" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Takano 2002:12699867}" "" "NPHP1 total deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880328" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi 2004:15138899}" "" "deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880329" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi 2004:15138899}" "" "deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880330" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi 2004:15138899}" "" "deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880331" "1" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi 2004:15138899}" "" "deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880332" "2" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Parisi 2004:15138899}" "" "NPHP1 W490fsX507 (NM_207181.4)" "W490 is 491 in NM_000272.3; no nucleotide annotation, impossible to extrapolate; homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880334" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "1 in 40 tested Joubert syndrome probands" "{PMID:Castori 2005:15689444}" "" "deletion including NPHP1" "homozygous" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000880335" "21" "90" "2" "110889310" "110889310" "subst" "4.06474E-6" "00000" "NPHP1_000105" "g.110889310G>A" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "NPHP1 c. 1756C>T, p.(Arg586*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110131733G>A" "" "pathogenic" "" "0000880336" "21" "90" "2" "110889310" "110889310" "subst" "4.06474E-6" "00000" "NPHP1_000105" "g.110889310G>A" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "NPHP1 c. 1756C>T, p.(Arg586*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110131733G>A" "" "pathogenic" "" "0000880337" "11" "90" "2" "110889310" "110889310" "subst" "4.06474E-6" "00000" "NPHP1_000105" "g.110889310G>A" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "NPHP1 c. 1756C>T, p.(Arg586*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110131733G>A" "" "pathogenic" "" "0000880338" "1" "90" "2" "110902110" "110902110" "subst" "4.06276E-6" "00000" "NPHP1_000113" "g.110902110A>C" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "NPHP1 c. 1756C>T, p.(Arg586*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110144533A>C" "" "pathogenic" "" "0000880339" "11" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "deletion including NPHP1" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880340" "11" "90" "2" "110919178" "110919178" "dup" "0" "00000" "NPHP1_000114" "g.110919178dup" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "NPHP1 c.1122+2dup" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110161601dup" "" "pathogenic" "" "0000880341" "21" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "deletion including NPHP1" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880342" "2" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "1 in 40 tested Joubert syndrome probands" "{PMID:Caridi 2006:16762963}" "" "deletion including NPHP1" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880386" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bollee 2006:16782989}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880387" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bollee 2006:16782989}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880388" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bollee 2006:16782989}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880389" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bollee 2006:16782989}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880407" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Sellami 2006:17114995}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880408" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Sellami 2006:17114995}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880417" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hoefele 2007:17855640}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880418" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hoefele 2007:17855640}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880419" "3" "90" "2" "110889310" "110889310" "subst" "4.06474E-6" "00000" "NPHP1_000105" "g.110889310G>A" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP1 C1756T, R586X" "homozygous" "Germline" "yes" "" "0" "" "" "g.110131733G>A" "" "pathogenic" "" "0000880420" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hoefele 2007:17855640}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880421" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hoefele 2007:17855640}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880422" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Hoefele 2007:17855640}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880451" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880452" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880453" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880454" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880455" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880456" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Soliman 2012:22982934}" "" "deletion including NPHP1" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880457" "0" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Deacon 2013:23683649}" "" "deletion including NPHP1" "compound heterozygous with undescribed point mutation in NPHP1" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880470" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gyung Kang 2015:25401970}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880471" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gyung Kang 2015:25401970}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880472" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gyung Kang 2015:25401970}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880473" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gyung Kang 2015:25401970}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880474" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gyung Kang 2015:25401970}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880477" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Chan 2016:27316287}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880478" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Chan 2016:27316287}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880479" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880480" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880481" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880482" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880483" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880484" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880485" "21" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "maternal allele, heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880486" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880487" "3" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880488" "21" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880489" "21" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880490" "0" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880491" "21" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880492" "11" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880493" "0" "90" "2" "110879887" "110962591" "del" "0" "00000" "NPHP1_000116" "g.(?_110962591)_(110879887_?)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "de novo allele, heterozygous" "De novo" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880494" "11" "70" "2" "110959056" "110959059" "del" "0" "00000" "NPHP1_000119" "g.110959056_110959059del" "" "{PMID:Javorszky 2017:28002029}" "" "NPHP1 c.84_87del, p.(Ser29Argfs*4)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110201479_110201482del" "" "likely pathogenic" "" "0000880495" "11" "70" "2" "110927419" "110927419" "del" "0" "00000" "NPHP1_000118" "g.110927419del" "" "{PMID:Javorszky 2017:28002029}" "" "NPHP1 c.489del, p.(Phe163Leufs*19)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110169842del" "" "likely pathogenic" "" "0000880496" "0" "70" "2" "110922701" "110922701" "subst" "0" "00000" "NPHP1_000117" "g.110922701G>T" "" "{PMID:Javorszky 2017:28002029}" "" "NPHP1 c.656C>A, p.(Ser219*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110165124G>T" "" "likely pathogenic" "" "0000880497" "11" "70" "2" "110862515" "110888028" "del" "0" "00000" "NPHP1_000115" "g.(110850451_110862515)_(110888028_110889217)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including exons 18-20 of NPHP1, c.(1810+1_1811-1)_(*1_?)del" "the same haplotype on the 3′ partially deleted NPHP1 allele as F-203, reflecting a founder effect; heterozygo" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880498" "21" "70" "2" "110862515" "110888028" "del" "0" "00000" "NPHP1_000115" "g.(110850451_110862515)_(110888028_110889217)del" "" "{PMID:Javorszky 2017:28002029}" "" "deletion including NPHP1 - c.(?_-1)_(*1_?)del" "the same haplotype on the 3′ partially deleted NPHP1 allele as F-106, reflecting a founder effect; heterozygo" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880499" "21" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Koyama 2017:28347285}" "" "deletion including exon 7 NPHP1 - c.(?_-1)_(*1_?)del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880500" "11" "70" "2" "110922701" "110922701" "subst" "0" "00000" "NPHP1_000117" "g.110922701G>T" "" "{PMID:Koyama 2017:28347285}" "" "NPHP1 c.656C>A, p.(Ser219*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.110165124G>T" "" "likely pathogenic" "" "0000880501" "21" "90" "2" "110600599" "111179168" "del" "0" "00000" "NPHP1_000075" "g.110600599_111179168del" "" "{PMID:Amiri 2016:28509138}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.109843022_110421591del" "" "pathogenic" "" "0000880502" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Abdelwahed 2019:31402777}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000880503" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Abdelwahed 2019:31402777}" "" "deletion including NPHP1" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000881113" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Ning 2021:33306870}" "" "NPHP1 deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "" "0000883703" "0" "30" "2" "110883254" "110883254" "subst" "0.000227798" "02326" "NPHP1_000006" "g.110883254G>A" "" "" "" "NPHP1(NM_000272.3):c.1889C>T (p.S630L), NPHP1(NM_000272.4):c.1889C>T (p.S630L), NPHP1(NM_000272.5):c.1889C>T (p.S630L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883704" "0" "90" "2" "110904329" "110904329" "del" "8.12513E-6" "02326" "NPHP1_000044" "g.110904329del" "" "" "" "NPHP1(NM_000272.4):c.1520+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883705" "0" "30" "2" "110922087" "110922087" "subst" "0" "02330" "NPHP1_000120" "g.110922087G>A" "" "" "" "NPHP1(NM_207181.4):c.939+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883706" "0" "30" "2" "110922668" "110922668" "subst" "0.00274833" "02325" "NPHP1_000060" "g.110922668G>A" "" "" "" "NPHP1(NM_000272.4):c.689C>T (p.A230V), NPHP1(NM_000272.5):c.689C>T (p.A230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883707" "0" "30" "2" "110922668" "110922668" "subst" "0.00274833" "02326" "NPHP1_000060" "g.110922668G>A" "" "" "" "NPHP1(NM_000272.4):c.689C>T (p.A230V), NPHP1(NM_000272.5):c.689C>T (p.A230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896736" "0" "90" "2" "110881412" "110881412" "subst" "0" "00000" "NPHP1_000101" "g.110881412G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "NPHP1 c.[2158C>T];[?]; p.(Gln720Ter)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.110123835G>A" "" "pathogenic" "" "0000947331" "0" "30" "2" "110922187" "110922187" "subst" "2.03196E-5" "02326" "NPHP1_000121" "g.110922187C>T" "" "" "" "NPHP1(NM_000272.4):c.849G>A (p.V283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958255" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Weisschuh 2024:37734845}" "" "deletion NPHP1 gene" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "likely pathogenic (recessive)" "ACMG" "0000958342" "3" "70" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Weisschuh 2024:37734845}" "" "deletion NPHP1 gene" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "636006" "likely pathogenic (recessive)" "ACMG" "0000972399" "1" "70" "2" "110901177" "110901177" "subst" "0" "00006" "NPHP1_000125" "g.110901177G>A" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "NM_000272.3:c.1639C>T (Gln547*)" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.110143600G>A" "" "likely pathogenic" "ACMG" "0000972401" "1" "90" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "80 kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic" "" "0000972438" "3" "90" "2" "110901177" "110901177" "subst" "0" "00006" "NPHP1_000125" "g.110901177G>A" "" "{PMID:Fujimaru 2021:34013113}" "" "NM_000272.3:c.1639C>T (Gln547*)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110143600G>A" "" "pathogenic (recessive)" "" "0000972440" "3" "90" "2" "110879716" "110962709" "del" "0" "00006" "NPHP1_000075" "g.(?_110879716)_(110962709_?)del" "" "{PMID:Fujimaru 2021:34013113}" "" "hg19 110879716-110962709 NPHP1 loss" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_110122139)_(110205132_?)del" "" "pathogenic (recessive)" "" "0000972441" "3" "90" "2" "110879895" "110959072" "del" "0" "00006" "NPHP1_000122" "g.(?_110879895)_(110959072_110962410)del" "" "{PMID:Fujimaru 2021:34013113}" "" "hg19 110962410-110879895 NPHP1 loss" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_110122318)_(110201495_110204833)del" "" "pathogenic (recessive)" "" "0000972442" "3" "90" "2" "110879716" "110962709" "del" "0" "00006" "NPHP1_000075" "g.(?_110879716)_(110962709_?)del" "" "{PMID:Fujimaru 2021:34013113}" "" "hg19 110879716-110962709 NPHP1 loss" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_110122139)_(110205132_?)del" "" "pathogenic (recessive)" "" "0000972446" "2" "90" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000123" "g.(110880913_110962639)delN[4701]" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "7,401 bp deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(110123336_110205062)delN[4701]" "" "pathogenic" "" "0000972447" "2" "90" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000124" "g.(110880913_110962639)delN[207]" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "207 bp deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(110123336_110205062)delN[207]" "" "pathogenic" "" "0000974233" "0" "30" "2" "110883266" "110883266" "subst" "1.62798E-5" "02326" "NPHP1_000076" "g.110883266G>A" "" "" "" "NPHP1(NM_000272.3):c.1885-8C>T, NPHP1(NM_000272.4):c.1885-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013373" "0" "30" "2" "110901179" "110901179" "subst" "0.000645837" "02326" "NPHP1_000009" "g.110901179C>T" "" "" "" "NPHP1(NM_000272.3):c.1637G>A (p.R546K, p.(Arg546Lys)), NPHP1(NM_000272.4):c.1637G>A (p.R546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032306" "0" "10" "2" "110919041" "110919041" "subst" "0" "02326" "NPHP1_000070" "g.110919041A>G" "" "" "" "NPHP1(NM_000272.3):c.1122+139T>C, NPHP1(NM_000272.4):c.1122+139T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044585" "3" "90" "2" "110880913" "110962639" "del" "0" "00006" "NPHP1_000075" "g.(?_110880913)_(110962639_?)del" "" "{PMID:Zhang 2022:35958498}" "" "del ex1-20" "" "Germline" "" "" "0" "" "" "g.(?_110123336)_(110205062_?)del" "" "pathogenic (recessive)" "" "0001045707" "0" "10" "2" "110920683" "110920683" "subst" "0.000239871" "02326" "NPHP1_000019" "g.110920683C>T" "" "" "" "NPHP1(NM_000272.3):c.969G>A (p.T323=), NPHP1(NM_000272.4):c.969G>A (p.T323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001050756" "0" "50" "2" "110881384" "110881384" "subst" "2.8425E-5" "01804" "NPHP1_000126" "g.110881384C>T" "" "" "" "NPHP1(NM_001128178.3):c.2018G>A (p.(Arg673Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050757" "0" "50" "2" "110917796" "110917796" "subst" "0" "01804" "NPHP1_000127" "g.110917796T>C" "" "" "" "NPHP1(NM_001128178.3):c.991A>G (p.(Thr331Ala))" "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 NPHP1 ## Count = 470 "{{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}}" "0000019527" "00014731" "95" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "8" "0000245780" "00025683" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000245780" "00014731" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000245878" "00025683" "10" "69" "7" "69" "7" "c.69+7T>C" "r.(=)" "p.(=)" "" "0000245878" "00014731" "10" "69" "7" "69" "7" "c.69+7T>C" "r.(=)" "p.(=)" "" "0000249306" "00025683" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000249306" "00014731" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000255192" "00025683" "30" "330" "-9" "330" "-9" "c.330-9T>G" "r.(=)" "p.(=)" "" "0000255192" "00014731" "30" "330" "-9" "330" "-9" "c.330-9T>G" "r.(=)" "p.(=)" "" "0000293182" "00025683" "10" "1270" "-4" "1270" "-4" "c.1270-4C>T" "r.spl?" "p.?" "" "0000293182" "00014731" "10" "1438" "-4" "1438" "-4" "c.1438-4C>T" "r.spl?" "p.?" "" "0000293183" "00025683" "30" "1952" "0" "1952" "0" "c.1952C>T" "r.(?)" "p.(Ser651Leu)" "" "0000293183" "00014731" "30" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Ser707Leu)" "" "0000293184" "00025683" "30" "421" "0" "426" "0" "c.421_426del" "r.(?)" "p.(Glu141_Glu142del)" "" "0000293184" "00014731" "30" "421" "0" "426" "0" "c.421_426del" "r.(?)" "p.(Glu141_Glu142del)" "" "0000293185" "00025683" "30" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Arg15Ser)" "" "0000293185" "00014731" "30" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Arg15Ser)" "" "0000293186" "00025683" "50" "625" "-12" "625" "-12" "c.625-12A>G" "r.(=)" "p.(=)" "" "0000293186" "00014731" "50" "625" "-12" "625" "-12" "c.625-12A>G" "r.(=)" "p.(=)" "" "0000293187" "00025683" "10" "771" "59" "771" "59" "c.771+59G>A" "r.(=)" "p.(=)" "" "0000293187" "00014731" "10" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000293188" "00025683" "30" "771" "89" "771" "89" "c.771+89A>G" "r.(=)" "p.(=)" "" "0000293188" "00014731" "30" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Asn287Ser)" "" "0000293189" "00025683" "10" "771" "134" "771" "134" "c.771+134G>A" "r.(=)" "p.(=)" "" "0000293189" "00014731" "10" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Glu)" "" "0000296590" "00025683" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000296590" "00014731" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000300328" "00025683" "10" "859" "34" "859" "34" "c.859+34A>C" "r.(=)" "p.(=)" "" "0000300328" "00014731" "10" "1027" "34" "1027" "34" "c.1027+34A>C" "r.(=)" "p.(=)" "" "0000300329" "00025683" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000300329" "00014731" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000300330" "00025683" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Ter)" "" "0000300330" "00014731" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "" "0000300331" "00025683" "10" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000300331" "00014731" "10" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000300332" "00025683" "30" "1270" "-4" "1270" "-4" "c.1270-4C>T" "r.spl?" "p.?" "" "0000300332" "00014731" "30" "1438" "-4" "1438" "-4" "c.1438-4C>T" "r.spl?" "p.?" "" "0000300333" "00025683" "10" "1353" "-95" "1353" "-90" "c.1353-95_1353-90del" "r.(=)" "p.(=)" "" "0000300333" "00014731" "10" "1521" "-95" "1521" "-90" "c.1521-95_1521-90del" "r.(=)" "p.(=)" "" "0000300335" "00025683" "10" "1762" "-96" "1762" "-96" "c.1762-96C>T" "r.(=)" "p.(=)" "" "0000300335" "00014731" "10" "1930" "-96" "1930" "-96" "c.1930-96C>T" "r.(=)" "p.(=)" "" "0000300336" "00025683" "10" "329" "76" "329" "76" "c.329+76C>T" "r.(=)" "p.(=)" "" "0000300336" "00014731" "10" "329" "76" "329" "76" "c.329+76C>T" "r.(=)" "p.(=)" "" "0000300337" "00025683" "30" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Ile158Val)" "" "0000300337" "00014731" "30" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Ile158Val)" "" "0000300338" "00025683" "10" "625" "-82" "625" "-82" "c.625-82G>C" "r.(=)" "p.(=)" "" "0000300338" "00014731" "10" "625" "-82" "625" "-82" "c.625-82G>C" "r.(=)" "p.(=)" "" "0000300339" "00025683" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000300339" "00014731" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000300340" "00025683" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Gln23Ter)" "" "0000300340" "00014731" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Gln23Ter)" "" "0000300341" "00025683" "10" "729" "-134" "729" "-134" "c.729-134C>G" "r.(=)" "p.(=)" "" "0000300341" "00014731" "10" "729" "-134" "729" "-134" "c.729-134C>G" "r.(=)" "p.(=)" "" "0000300342" "00025683" "10" "771" "39" "771" "39" "c.771+39C>T" "r.(=)" "p.(=)" "" "0000300342" "00014731" "10" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Cys270=)" "" "0000300343" "00025683" "10" "772" "-118" "772" "-118" "c.772-118C>T" "r.(=)" "p.(=)" "" "0000300343" "00014731" "10" "940" "-118" "940" "-118" "c.940-118C>T" "r.(=)" "p.(=)" "" "0000304427" "00025683" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000304427" "00014731" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000304428" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000304428" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000304429" "00025683" "30" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000304429" "00014731" "30" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000304430" "00025683" "30" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490Lys)" "" "0000304430" "00014731" "30" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Lys)" "" "0000304431" "00025683" "30" "1529" "19" "1529" "19" "c.1529+19C>T" "r.(=)" "p.(=)" "" "0000304431" "00014731" "30" "1697" "19" "1697" "19" "c.1697+19C>T" "r.(=)" "p.(=)" "" "0000304433" "00025683" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000304433" "00014731" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000304434" "00025683" "10" "771" "39" "771" "39" "c.771+39C>T" "r.(=)" "p.(=)" "" "0000304434" "00014731" "10" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Cys270=)" "" "0000304435" "00025683" "10" "772" "-17" "772" "-17" "c.772-17G>A" "r.(=)" "p.(=)" "" "0000304435" "00014731" "10" "940" "-17" "940" "-17" "c.940-17G>A" "r.(=)" "p.(=)" "" "0000304436" "00025683" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Thr267Met)" "" "0000304436" "00014731" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "" "0000304437" "00025683" "30" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" "" "0000304437" "00014731" "30" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Thr323=)" "" "0000327193" "00025683" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490Lys)" "" "0000327193" "00014731" "50" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Lys)" "" "0000327196" "00025683" "30" "1096" "0" "1096" "0" "c.1096A>G" "r.(?)" "p.(Ile366Val)" "" "0000327196" "00014731" "30" "1264" "0" "1264" "0" "c.1264A>G" "r.(?)" "p.(Ile422Val)" "" "0000327201" "00025683" "50" "491" "0" "491" "0" "c.491C>A" "r.(?)" "p.(Thr164Asn)" "" "0000327201" "00014731" "50" "491" "0" "491" "0" "c.491C>A" "r.(?)" "p.(Thr164Asn)" "" "0000336996" "00025683" "90" "1352" "1" "1352" "1" "c.1352+1del" "r.spl?" "p.?" "" "0000336996" "00014731" "90" "1520" "1" "1520" "1" "c.1520+1del" "r.spl?" "p.?" "" "0000336998" "00025683" "10" "772" "-17" "772" "-17" "c.772-17G>A" "r.(=)" "p.(=)" "" "0000336998" "00014731" "10" "940" "-17" "940" "-17" "c.940-17G>A" "r.(=)" "p.(=)" "" "0000345248" "00025683" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000345248" "00014731" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Glu218=)" "" "0000346010" "00025683" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000346010" "00014731" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000348430" "00025683" "10" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000348430" "00014731" "10" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000350195" "00025683" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000350195" "00014731" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000508916" "00025683" "30" "1721" "0" "1721" "0" "c.1721C>T" "r.(?)" "p.(Ser574Leu)" "" "0000508916" "00014731" "30" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Leu)" "" "0000508917" "00025683" "30" "1716" "91" "1716" "91" "c.1716+91del" "r.(=)" "p.(=)" "" "0000508917" "00014731" "30" "1884" "91" "1884" "91" "c.1884+91del" "r.(=)" "p.(=)" "" "0000508918" "00025683" "10" "1716" "74" "1716" "74" "c.1716+74dup" "r.(=)" "p.(=)" "" "0000508918" "00014731" "10" "1884" "74" "1884" "74" "c.1884+74dup" "r.(=)" "p.(=)" "" "0000508919" "00025683" "90" "1716" "1" "1716" "1" "c.1716+1G>T" "r.spl?" "p.?" "" "0000508919" "00014731" "90" "1884" "1" "1884" "1" "c.1884+1G>T" "r.spl?" "p.?" "" "0000508920" "00025683" "10" "1701" "0" "1701" "0" "c.1701G>C" "r.(?)" "p.(Val567=)" "" "0000508920" "00014731" "10" "1869" "0" "1869" "0" "c.1869G>C" "r.(?)" "p.(Val623=)" "" "0000508921" "00025683" "30" "1270" "-4" "1270" "-4" "c.1270-4C>T" "r.spl?" "p.?" "" "0000508921" "00014731" "30" "1438" "-4" "1438" "-4" "c.1438-4C>T" "r.spl?" "p.?" "" "0000508923" "00025683" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "" "0000508923" "00014731" "50" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000508925" "00025683" "50" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Cys335Arg)" "" "0000508925" "00014731" "50" "1171" "0" "1171" "0" "c.1171T>C" "r.(?)" "p.(Cys391Arg)" "" "0000508927" "00025683" "30" "867" "0" "867" "0" "c.867A>G" "r.(?)" "p.(Gln289=)" "" "0000508927" "00014731" "30" "1035" "0" "1035" "0" "c.1035A>G" "r.(?)" "p.(Gln345=)" "" "0000508929" "00025683" "30" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000508929" "00014731" "30" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Val318Ala)" "" "0000508930" "00025683" "10" "771" "185" "771" "185" "c.771+185G>A" "r.(=)" "p.(=)" "" "0000508930" "00014731" "10" "939" "17" "939" "17" "c.939+17G>A" "r.(=)" "p.(=)" "" "0000508931" "00025683" "50" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Lys253Glu)" "" "0000508931" "00014731" "50" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Lys253Glu)" "" "0000508932" "00025683" "10" "729" "-16" "729" "-16" "c.729-16T>C" "r.(=)" "p.(=)" "" "0000508932" "00014731" "10" "729" "-16" "729" "-16" "c.729-16T>C" "r.(=)" "p.(=)" "" "0000508934" "00025683" "10" "625" "-82" "625" "-82" "c.625-82G>T" "r.(=)" "p.(=)" "" "0000508934" "00014731" "10" "625" "-82" "625" "-82" "c.625-82G>T" "r.(=)" "p.(=)" "" "0000508935" "00025683" "90" "555" "0" "555" "0" "c.555dup" "r.(?)" "p.(Pro186ThrfsTer2)" "" "0000508935" "00014731" "90" "555" "0" "555" "0" "c.555dup" "r.(?)" "p.(Pro186ThrfsTer2)" "" "0000508936" "00025683" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Thr153=)" "" "0000508936" "00014731" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Thr153=)" "" "0000508937" "00025683" "30" "330" "-4" "330" "-4" "c.330-4G>T" "r.spl?" "p.?" "" "0000508937" "00014731" "30" "330" "-4" "330" "-4" "c.330-4G>T" "r.spl?" "p.?" "" "0000508938" "00025683" "50" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000508938" "00014731" "50" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000508941" "00025683" "10" "70" "-960" "70" "-960" "c.70-960C>T" "r.(=)" "p.(=)" "" "0000508941" "00014731" "10" "70" "-960" "70" "-960" "c.70-960C>T" "r.(=)" "p.(=)" "" "0000508942" "00025683" "30" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000508942" "00014731" "30" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000508943" "00025683" "30" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000508943" "00014731" "30" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000606052" "00025683" "30" "277" "0" "277" "0" "c.277A>T" "r.(?)" "p.(Thr93Ser)" "" "0000606052" "00014731" "30" "277" "0" "277" "0" "c.277A>T" "r.(?)" "p.(Thr93Ser)" "" "0000650085" "00025683" "10" "1529" "19" "1529" "19" "c.1529+19C>T" "r.(=)" "p.(=)" "" "0000650085" "00014731" "10" "1697" "19" "1697" "19" "c.1697+19C>T" "r.(=)" "p.(=)" "" "0000650086" "00025683" "50" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Thr318Ile)" "" "0000650086" "00014731" "50" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Ile)" "" "0000650087" "00025683" "30" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000650087" "00014731" "30" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000654171" "00025683" "10" "1716" "416" "1716" "416" "c.1716+416G>A" "r.(=)" "p.(=)" "" "0000654171" "00014731" "10" "1884" "416" "1884" "416" "c.1884+416G>A" "r.(=)" "p.(=)" "" "0000654173" "00025683" "10" "954" "139" "954" "139" "c.954+139T>C" "r.(=)" "p.(=)" "" "0000654173" "00014731" "10" "1122" "139" "1122" "139" "c.1122+139T>C" "r.(=)" "p.(=)" "" "0000654174" "00025683" "30" "771" "33" "771" "33" "c.771+33G>A" "r.(=)" "p.(=)" "" "0000654174" "00014731" "30" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Ser268=)" "" "0000654175" "00025683" "30" "438" "0" "438" "0" "c.438T>C" "r.(?)" "p.(Asn146=)" "" "0000654175" "00014731" "30" "438" "0" "438" "0" "c.438T>C" "r.(?)" "p.(Asn146=)" "" "0000654176" "00025683" "10" "144" "-10601" "144" "-10601" "c.144-10601A>G" "r.(=)" "p.(=)" "" "0000654176" "00014731" "10" "144" "-10601" "144" "-10601" "c.144-10601A>G" "r.(=)" "p.(=)" "" "0000654177" "00025683" "10" "143" "1338" "143" "1338" "c.143+1338T>C" "r.(=)" "p.(=)" "" "0000654177" "00014731" "10" "143" "1338" "143" "1338" "c.143+1338T>C" "r.(=)" "p.(=)" "" "0000667239" "00014731" "90" "-94" "0" "2657" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000667240" "00014731" "90" "-94" "0" "2657" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000667242" "00014731" "90" "-94" "0" "2657" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000675992" "00025683" "30" "1717" "-8" "1717" "-8" "c.1717-8C>T" "r.(=)" "p.(=)" "" "0000675992" "00014731" "30" "1885" "-8" "1885" "-8" "c.1885-8C>T" "r.(=)" "p.(=)" "" "0000675993" "00025683" "30" "811" "0" "811" "0" "c.811A>G" "r.(?)" "p.(Ile271Val)" "" "0000675993" "00014731" "30" "979" "0" "979" "0" "c.979A>G" "r.(?)" "p.(Ile327Val)" "" "0000685299" "00014731" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Ser480Hisfs*10)" "" "0000685300" "00014731" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" "" "0000688290" "00025683" "30" "1353" "-9" "1353" "-9" "c.1353-9C>A" "r.(=)" "p.(=)" "" "0000688290" "00014731" "30" "1521" "-9" "1521" "-9" "c.1521-9C>A" "r.(=)" "p.(=)" "" "0000688291" "00025683" "90" "1246" "0" "1252" "0" "c.1246_1252del" "r.(?)" "p.(Leu416PhefsTer14)" "" "0000688291" "00014731" "90" "1414" "0" "1420" "0" "c.1414_1420del" "r.(?)" "p.(Leu472PhefsTer14)" "" "0000688292" "00025683" "90" "1086" "0" "1086" "0" "c.1086del" "r.(?)" "p.(Leu363Ter)" "" "0000688292" "00014731" "90" "1254" "0" "1254" "0" "c.1254del" "r.(?)" "p.(Leu419Ter)" "" "0000688293" "00025683" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000688293" "00014731" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000688294" "00025683" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000688294" "00014731" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Tyr78His)" "" "0000717794" "00025683" "50" "1721" "0" "1721" "0" "c.1721C>T" "r.(?)" "p.(Ser574Leu)" "" "0000717794" "00014731" "50" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Leu)" "" "0000717795" "00025683" "30" "859" "5" "859" "5" "c.859+5T>C" "r.spl?" "p.?" "" "0000717795" "00014731" "30" "1027" "5" "1027" "5" "c.1027+5T>C" "r.spl?" "p.?" "" "0000730621" "00014731" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000733333" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000733715" "00014731" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759689" "00025683" "90" "-4984" "0" "7713" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000759689" "00014731" "90" "-4984" "0" "7881" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000759698" "00025683" "90" "-4984" "0" "7713" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000759698" "00014731" "90" "-4984" "0" "7881" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000759707" "00014731" "50" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000759722" "00025683" "90" "-4984" "0" "7713" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000759722" "00014731" "90" "-4984" "0" "7881" "0" "c.-4984_*5679del" "r.0?" "p.0?" "" "0000765700" "00014731" "90" "555" "0" "555" "0" "c.555delA" "r.(?)" "p.(Lys185AsnfsTer7)" "" "0000765701" "00014731" "90" "" "0" "" "0" "NPHP1Del" "NA" "p.?" "" "0000765702" "00014731" "90" "555" "0" "555" "0" "c.555delA" "r.(?)" "p.(Lys185AsnfsTer7)" "" "0000765738" "00014731" "90" "0" "0" "0" "0" "c.0" "NA" "p.?" "" "0000783506" "00014731" "90" "" "0" "" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000783507" "00014731" "90" "" "0" "" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000783508" "00014731" "90" "" "0" "" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000783509" "00014731" "90" "" "0" "" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000783510" "00014731" "90" "" "0" "" "0" "c.-94_*455{0}" "r.0" "p.0" "" "0000783894" "00014731" "50" "2098" "0" "2098" "0" "c.2098G>C" "r.(?)" "p.(Gly700Arg)" "" "0000783980" "00014731" "50" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Tyr585Cys)" "" "0000785982" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785984" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785986" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785988" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785990" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785993" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785996" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000785998" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786001" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786002" "00014731" "55" "1467" "1" "1467" "1" "c.1467+1G>T" "r.spl?" "p.?" "14" "0000786003" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786004" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786005" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786006" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786007" "00014731" "77" "-94" "0" "2657" "0" "c.(?_-94)_(*455_?)del" "r.?" "p.?" "1_20" "0000786008" "00014731" "77" "1027" "0" "1027" "0" "c.1027 G>A" "r.(?)" "p.(Gly343Arg)" "9" "0000786010" "00014731" "77" "625" "-1" "1251" "1" "c.(?_625-1)_(1251+1_?)del" "r.spl?" "p.?" "6i_11i" "0000787102" "00014731" "90" "-1" "0" "2203" "0" "c.(?_-1)_(*1_?)del" "r.?" "p.?" "_1_20_" "0000788343" "00014731" "50" "2029" "0" "2029" "0" "c.2029G>C" "r.(?)" "p.(Glu677Gln)" "20" "0000788352" "00014731" "50" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Pro621Thr)" "18" "0000791788" "00014731" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)" "r.0" "p.0" "" "0000791789" "00014731" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)" "r.0" "p.0" "" "0000791790" "00014731" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)" "r.0" "p.0" "" "0000794157" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000794158" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000794159" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000794160" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000794161" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000794163" "00014731" "70" "-215" "0" "2784" "0" "c.(?_-215)_(*582_?)del" "r.0" "p.0" "" "0000796908" "00014731" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "9" "0000798473" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000798474" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000798475" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000799621" "00025683" "90" "1643" "-1" "1643" "-1" "c.1643-1G>C" "r.spl?" "p.?" "" "0000799621" "00014731" "90" "1811" "-1" "1811" "-1" "c.1811-1G>C" "r.spl?" "p.?" "" "0000799622" "00025683" "30" "1269" "9" "1269" "9" "c.1269+9G>A" "r.(=)" "p.(=)" "" "0000799622" "00014731" "30" "1437" "9" "1437" "9" "c.1437+9G>A" "r.(=)" "p.(=)" "" "0000799623" "00025683" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000799623" "00014731" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000799624" "00025683" "50" "771" "59" "771" "59" "c.771+59G>A" "r.(=)" "p.(=)" "" "0000799624" "00014731" "50" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000799625" "00025683" "30" "625" "-3" "625" "-3" "c.625-3dup" "r.spl?" "p.?" "" "0000799625" "00014731" "30" "625" "-3" "625" "-3" "c.625-3dup" "r.spl?" "p.?" "" "0000799626" "00025683" "50" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Leu207Val)" "" "0000799626" "00014731" "50" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Leu207Val)" "" "0000799627" "00025683" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "" "0000799627" "00014731" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "" "0000814003" "00014731" "50" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.?" "17" "0000814066" "00014731" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "5" "0000814655" "00014731" "70" "-94" "0" "2657" "0" "c.0" "r.0" "p.0" "1_20" "0000814657" "00014731" "70" "-94" "0" "2657" "0" "c.0" "r.0" "p.0" "1_20" "0000814659" "00014731" "70" "-94" "0" "2657" "0" "c.0" "r.0" "p.0" "1_20" "0000814661" "00014731" "70" "-94" "0" "2657" "0" "c.0" "r.0" "p.0" "1_20" "0000814663" "00014731" "70" "-94" "0" "2657" "0" "c.0" "r.0" "p.0" "1_20" "0000814665" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000814668" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000814671" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000814673" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000814675" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000814677" "00014731" "70" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "1" "0000816283" "00014731" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000817481" "00014731" "50" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000818188" "00014731" "90" "625" "-2" "625" "-2" "c.625-2A>G" "r.spl?" "p.?" "6i" "0000818197" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000818394" "00014731" "50" "2029" "0" "2029" "0" "c.2029G>C" "r.(?)" "p.(Glu677Gln)" "20" "0000818974" "00014731" "70" "0" "0" "0" "0" "c.-94_*455{0}" "r.0?" "p.0?" "_1_20_" "0000818986" "00014731" "30" "-1" "0" "2203" "0" "c.-94_*455{2}" "r.?" "p.?" "1_20" "0000818987" "00014731" "30" "-1" "0" "2203" "0" "c.-94_*455{2}" "r.?" "p.?" "1_20" "0000818988" "00014731" "30" "-1" "0" "2203" "0" "c.-94_*455{2}" "r.?" "p.?" "1_20" "0000821462" "00025683" "70" "-21925" "0" "29879" "0" "c.-21925_*27845del" "r.0?" "p.0?" "" "0000821462" "00014731" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000822711" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(0)" "deletion" "0000828874" "00025683" "90" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664*)" "" "0000828874" "00014731" "90" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Gln720*)" "" "0000834119" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834120" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834121" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834122" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834123" "00025683" "90" "640" "0" "640" "0" "c.640G>T" "r.(?)" "p.(Glu214Ter)" "7" "0000834124" "00025683" "70" "1751" "0" "1764" "0" "c.1751_1764del" "r.(?)" "p.(Phe584SerfsTer16)" "17" "0000834125" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834126" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834127" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834128" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834129" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834130" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834131" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834132" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834133" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834134" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834135" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834136" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834137" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834138" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834173" "00025683" "90" "640" "0" "640" "0" "c.640G>T" "r.(?)" "p.(Glu214Ter)" "7" "0000834174" "00025683" "70" "1751" "0" "1764" "0" "c.1751_1764del" "r.(?)" "p.(Phe584SerfsTer16)" "17" "0000834175" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834176" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834177" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834178" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000834179" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0" "_1_20_" "0000845557" "00025683" "70" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Pro186Thrfs*2)" "" "0000845557" "00014731" "70" "555" "0" "555" "0" "c.555dupA" "r.(?)" "p.(Pro186ThrfsTer2)" "" "0000845558" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845558" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845559" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845559" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845560" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845560" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845561" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845561" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845562" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845562" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845563" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000845563" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.spl" "p.(Gly343Arg)" "" "0000845564" "00025683" "70" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "" "0000845564" "00014731" "70" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "" "0000845565" "00025683" "70" "1304" "0" "1304" "0" "c.1304del" "r.(?)" "p.(Val436Cysfs*22)" "" "0000845565" "00014731" "70" "1474" "0" "1474" "0" "c.1474delG" "r.(?)" "p.(Val492CysfsTer22)" "" "0000845566" "00025683" "70" "1357" "0" "1358" "0" "c.1357_1358insAA" "r.(?)" "p.(Tyr453*)" "" "0000845566" "00014731" "70" "1526" "0" "1527" "0" "c.1526_1527insAA" "r.(?)" "p.(Tyr509Ter)" "" "0000845567" "00025683" "70" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530*)" "" "0000845567" "00014731" "70" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Ter)" "" "0000845568" "00025683" "70" "1716" "1" "1716" "1" "c.1716+1G>A" "r.spl?" "p.?" "" "0000845568" "00014731" "70" "1884" "1" "1884" "1" "c.1884+1G>A" "r.spl" "p.(?)" "" "0000845585" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.0?" "" "0000845586" "00014731" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.0?" "" "0000845587" "00014731" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.0?" "" "0000845588" "00014731" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.0?" "" "0000845589" "00014731" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.0?" "" "0000845590" "00014731" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.0?" "" "0000845903" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000845907" "00014731" "90" "0" "0" "0" "0" "c.0" "r.(?)" "p.0" "" "0000845908" "00025683" "90" "607" "0" "607" "0" "c.607dup" "r.(?)" "p.(Arg204Glnfs*8)" "" "0000845908" "00014731" "90" "609" "0" "610" "0" "c.609_610insC" "r.(?)" "p.(Arg204Glnfs*8)" "" "0000845916" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000845918" "00025683" "70" "1861" "0" "1861" "0" "c.1861G>C" "r.(?)" "p.(Glu621Gln)" "" "0000845918" "00014731" "70" "2029" "0" "2029" "0" "c.2029G>C" "r.(?)" "p.(Glu677Gln)" "" "0000845929" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000845930" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000848918" "00025683" "30" "1270" "-18" "1270" "-18" "c.1270-18A>G" "r.(=)" "p.(=)" "" "0000848918" "00014731" "30" "1438" "-18" "1438" "-18" "c.1438-18A>G" "r.(=)" "p.(=)" "" "0000848919" "00025683" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Cys)" "" "0000848919" "00014731" "50" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Cys)" "" "0000848920" "00025683" "10" "771" "59" "771" "59" "c.771+59G>A" "r.(=)" "p.(=)" "" "0000848920" "00014731" "10" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000857675" "00025683" "50" "644" "0" "646" "0" "c.644_646dup" "r.(?)" "p.(Glu215dup)" "" "0000857675" "00014731" "50" "644" "0" "646" "0" "c.644_646dup" "r.(?)" "p.(Glu215dup)" "" "0000880319" "00014731" "70" "330" "-1" "2657" "0" "c.(329+1_330-1)_(*455_?)del" "r.(?)" "p.?" "" "0000880320" "00014731" "70" "330" "-1" "2657" "0" "c.(329+1_330-1)_(*455_?)del" "r.(?)" "p.?" "" "0000880322" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880323" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880324" "00025683" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000880324" "00014731" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000880325" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880328" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880329" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880330" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880331" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880332" "00014731" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Trp491fs*507)" "" "0000880334" "00014731" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880335" "00025683" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530*)" "" "0000880335" "00014731" "90" "1756" "0" "1756" "0" "c. 1756C>T" "r.(?)" "p.(Arg586*)" "" "0000880336" "00025683" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530*)" "" "0000880336" "00014731" "90" "1756" "0" "1756" "0" "c. 1756C>T" "r.(?)" "p.(Arg586*)" "" "0000880337" "00025683" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530*)" "" "0000880337" "00014731" "90" "1756" "0" "1756" "0" "c. 1756C>T" "r.(?)" "p.(Arg586*)" "" "0000880338" "00025683" "90" "1389" "0" "1389" "0" "c.1389T>G" "r.(?)" "p.(Tyr463*)" "" "0000880338" "00014731" "90" "1557" "0" "1557" "0" "c.1557T>G" "r.(?)" "p.(Tyr519*)" "" "0000880339" "00014731" "90" "0" "0" "0" "0" "c.0" "r.(?)" "p.0" "" "0000880340" "00025683" "90" "954" "2" "954" "2" "c.954+2dup" "r.spl?" "p.?" "" "0000880340" "00014731" "90" "1122" "2" "1122" "2" "c.1122+2dup" "r.spl?" "p.?" "" "0000880341" "00014731" "90" "0" "0" "0" "0" "c.0" "r.(?)" "p.0" "" "0000880342" "00014731" "90" "0" "0" "0" "0" "c.0" "r.(?)" "p.0" "" "0000880386" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880387" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880388" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880389" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880407" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880408" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880417" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880418" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880419" "00025683" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530*)" "" "0000880419" "00014731" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586*)" "" "0000880420" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880421" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880422" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880451" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880452" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880453" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880454" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880455" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880456" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880457" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880470" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880471" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880472" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880473" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880474" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880477" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880478" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880479" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880480" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880481" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880482" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880483" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880484" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880485" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880486" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880487" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880488" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880489" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880490" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880491" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880492" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880493" "00014731" "90" "-46" "-1" "3683" "0" "c.(?_-46-1)_(*1481_?)del" "r.0" "p.0" "" "0000880494" "00025683" "70" "82" "0" "85" "0" "c.82_85del" "r.(?)" "p.(Ser29Argfs*4)" "" "0000880494" "00014731" "70" "84" "0" "87" "0" "c.84_87del" "r.(?)" "p.(Ser29Argfs*4)" "" "0000880495" "00025683" "70" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Phe163Leufs*19)" "" "0000880495" "00014731" "70" "489" "0" "489" "0" "c.489del" "r.(?)" "p.(Phe163Leufs*19)" "" "0000880496" "00025683" "70" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ser219*)" "" "0000880496" "00014731" "70" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ser219*)" "" "0000880497" "00014731" "70" "1811" "-1" "2203" "0" "c.(1810+1_1811-1)_(*1_?)del" "r.(?)" "p.?" "" "0000880498" "00014731" "70" "1811" "-1" "2203" "0" "c.(1810+1_1811-1)_(*1_?)del" "r.(?)" "p.?" "" "0000880499" "00014731" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000880500" "00025683" "70" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ser219*)" "" "0000880500" "00014731" "70" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ser219*)" "7" "0000880501" "00025683" "90" "-216623" "0" "282803" "0" "c.-216623_*280769del" "r.0?" "p.0?" "" "0000880501" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880502" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000880503" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000881113" "00014731" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000883703" "00025683" "30" "1721" "0" "1721" "0" "c.1721C>T" "r.(?)" "p.(Ser574Leu)" "" "0000883703" "00014731" "30" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Leu)" "" "0000883704" "00025683" "90" "1352" "1" "1352" "1" "c.1352+1del" "r.spl?" "p.?" "" "0000883704" "00014731" "90" "1520" "1" "1520" "1" "c.1520+1del" "r.spl?" "p.?" "" "0000883705" "00025683" "30" "771" "178" "771" "178" "c.771+178C>T" "r.(=)" "p.(=)" "" "0000883705" "00014731" "30" "939" "10" "939" "10" "c.939+10C>T" "r.(=)" "p.(=)" "" "0000883706" "00025683" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ala230Val)" "" "0000883706" "00014731" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ala230Val)" "" "0000883707" "00025683" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ala230Val)" "" "0000883707" "00014731" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ala230Val)" "" "0000896736" "00025683" "90" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664*)" "" "0000896736" "00014731" "90" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Gln720Ter)" "" "0000947331" "00025683" "30" "771" "78" "771" "78" "c.771+78G>A" "r.(=)" "p.(=)" "" "0000947331" "00014731" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(=)" "" "0000958255" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0" "p.0" "" "0000958342" "00025683" "70" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0" "p.0" "" "0000972399" "00025683" "70" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Gln491Ter)" "" "0000972401" "00025683" "90" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0" "p.0" "_1_20_" "0000972438" "00025683" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Gln491Ter)" "" "0000972440" "00025683" "90" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0" "p.0" "_1_20_" "0000972441" "00025683" "90" "" "0" "" "0" "c.(69+67_70-1)_*455{0}" "r.0" "p.0" "1i_20_" "0000972442" "00025683" "90" "" "0" "" "0" "c.(?_-94)_(*455_?)del" "r.0" "p.0" "_1_20_" "0000972446" "00025683" "90" "-94" "0" "2489" "0" "c.(-94_*455)delN[4701]" "r.?" "p.?" "" "0000972447" "00025683" "90" "-94" "0" "2489" "0" "c.(-94_*455)delN[207]" "r.?" "p.?" "" "0000974233" "00025683" "30" "1717" "-8" "1717" "-8" "c.1717-8C>T" "r.(=)" "p.(=)" "" "0000974233" "00014731" "30" "1885" "-8" "1885" "-8" "c.1885-8C>T" "r.(=)" "p.(=)" "" "0001013373" "00025683" "30" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490Lys)" "" "0001013373" "00014731" "30" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Lys)" "" "0001032306" "00025683" "10" "954" "139" "954" "139" "c.954+139T>C" "r.(=)" "p.(=)" "" "0001032306" "00014731" "10" "1122" "139" "1122" "139" "c.1122+139T>C" "r.(=)" "p.(=)" "" "0001044585" "00025683" "90" "0" "0" "0" "0" "c.(?_-94)_(*455_?)del" "r.0?" "p.0?" "_1_20_" "0001045707" "00025683" "10" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" "" "0001045707" "00014731" "10" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Thr323=)" "" "0001050756" "00025683" "50" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Lys)" "" "0001050756" "00014731" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Lys)" "" "0001050757" "00025683" "50" "991" "0" "991" "0" "c.991A>G" "r.(?)" "p.(Thr331Ala)" "" "0001050757" "00014731" "50" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Thr387Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 221 "{{screeningid}}" "{{variantid}}" "0000001617" "0000019527" "0000293396" "0000650085" "0000293397" "0000650086" "0000293398" "0000650087" "0000303843" "0000667239" "0000303844" "0000667240" "0000303846" "0000667242" "0000310388" "0000685299" "0000310389" "0000685300" "0000333197" "0000730621" "0000335324" "0000733333" "0000335324" "0000733715" "0000360039" "0000759689" "0000360041" "0000759707" "0000360047" "0000759722" "0000360048" "0000759698" "0000364793" "0000765700" "0000364793" "0000765738" "0000364794" "0000765701" "0000364795" "0000765702" "0000373526" "0000783506" "0000373527" "0000783507" "0000373528" "0000783508" "0000373529" "0000783509" "0000373530" "0000783510" "0000373745" "0000783894" "0000373745" "0000783980" "0000374992" "0000785982" "0000374993" "0000785984" "0000374994" "0000785986" "0000374995" "0000785988" "0000374996" "0000785990" "0000374997" "0000785993" "0000374998" "0000785996" "0000374999" "0000785998" "0000375000" "0000786001" "0000375001" "0000786002" "0000375002" "0000786003" "0000375003" "0000786004" "0000375004" "0000786005" "0000375005" "0000786006" "0000375006" "0000786007" "0000375006" "0000786008" "0000375007" "0000786010" "0000375751" "0000787102" "0000376615" "0000788343" "0000376624" "0000788352" "0000378882" "0000791788" "0000378883" "0000791789" "0000378884" "0000791790" "0000380917" "0000794157" "0000380918" "0000794158" "0000380919" "0000794159" "0000380920" "0000794160" "0000380921" "0000794161" "0000380923" "0000794163" "0000382937" "0000796908" "0000384044" "0000798473" "0000384045" "0000798474" "0000384046" "0000798475" "0000386469" "0000814003" "0000386506" "0000814066" "0000386864" "0000814655" "0000386865" "0000814657" "0000386866" "0000814659" "0000386867" "0000814661" "0000386868" "0000814663" "0000386869" "0000814665" "0000386870" "0000814668" "0000386871" "0000814671" "0000386872" "0000814673" "0000386873" "0000814675" "0000386874" "0000814677" "0000388125" "0000816283" "0000388729" "0000817481" "0000389269" "0000818188" "0000389269" "0000818197" "0000389380" "0000818394" "0000389740" "0000818974" "0000389750" "0000818986" "0000389751" "0000818987" "0000389752" "0000818988" "0000391712" "0000821462" "0000392420" "0000822711" "0000397128" "0000828874" "0000401076" "0000834119" "0000401077" "0000834120" "0000401078" "0000834121" "0000401079" "0000834122" "0000401080" "0000834123" "0000401080" "0000834173" "0000401081" "0000834124" "0000401081" "0000834174" "0000401082" "0000834125" "0000401082" "0000834175" "0000401083" "0000834126" "0000401083" "0000834176" "0000401084" "0000834127" "0000401084" "0000834177" "0000401085" "0000834128" "0000401085" "0000834178" "0000401086" "0000834129" "0000401086" "0000834179" "0000401087" "0000834130" "0000401088" "0000834131" "0000401089" "0000834132" "0000401090" "0000834133" "0000401091" "0000834134" "0000401092" "0000834135" "0000401093" "0000834136" "0000401094" "0000834137" "0000401095" "0000834138" "0000408608" "0000845557" "0000408608" "0000845585" "0000408609" "0000845558" "0000408609" "0000845586" "0000408610" "0000845559" "0000408610" "0000845587" "0000408611" "0000845560" "0000408612" "0000845561" "0000408612" "0000845588" "0000408613" "0000845562" "0000408613" "0000845589" "0000408614" "0000845563" "0000408614" "0000845590" "0000408615" "0000845564" "0000408616" "0000845565" "0000408617" "0000845566" "0000408618" "0000845567" "0000408619" "0000845568" "0000408898" "0000845903" "0000408902" "0000845907" "0000408902" "0000845908" "0000408907" "0000845916" "0000408909" "0000845918" "0000408917" "0000845929" "0000408918" "0000845930" "0000420065" "0000880319" "0000420066" "0000880320" "0000420069" "0000880322" "0000420070" "0000880323" "0000420070" "0000880324" "0000420071" "0000880325" "0000420074" "0000880328" "0000420075" "0000880329" "0000420076" "0000880330" "0000420077" "0000880331" "0000420077" "0000880332" "0000420078" "0000880334" "0000420079" "0000880335" "0000420079" "0000880339" "0000420080" "0000880336" "0000420080" "0000880340" "0000420081" "0000880337" "0000420081" "0000880341" "0000420082" "0000880338" "0000420082" "0000880342" "0000420101" "0000880386" "0000420102" "0000880387" "0000420103" "0000880388" "0000420104" "0000880389" "0000420110" "0000880407" "0000420111" "0000880408" "0000420118" "0000880417" "0000420119" "0000880418" "0000420120" "0000880419" "0000420121" "0000880420" "0000420122" "0000880421" "0000420123" "0000880422" "0000420141" "0000880451" "0000420142" "0000880452" "0000420143" "0000880453" "0000420144" "0000880454" "0000420145" "0000880455" "0000420146" "0000880456" "0000420147" "0000880457" "0000420160" "0000880470" "0000420161" "0000880471" "0000420162" "0000880472" "0000420163" "0000880473" "0000420164" "0000880474" "0000420167" "0000880477" "0000420168" "0000880478" "0000420169" "0000880479" "0000420170" "0000880480" "0000420171" "0000880481" "0000420172" "0000880482" "0000420173" "0000880483" "0000420174" "0000880484" "0000420175" "0000880485" "0000420175" "0000880493" "0000420176" "0000880486" "0000420177" "0000880487" "0000420178" "0000880488" "0000420178" "0000880494" "0000420179" "0000880489" "0000420179" "0000880495" "0000420180" "0000880490" "0000420180" "0000880496" "0000420181" "0000880491" "0000420181" "0000880497" "0000420182" "0000880492" "0000420182" "0000880498" "0000420183" "0000880499" "0000420183" "0000880500" "0000420184" "0000880501" "0000420185" "0000880502" "0000420186" "0000880503" "0000420753" "0000881113" "0000421897" "0000896736" "0000448769" "0000958255" "0000448856" "0000958342" "0000450421" "0000972399" "0000450421" "0000972446" "0000450423" "0000972401" "0000450423" "0000972447" "0000450460" "0000972438" "0000450462" "0000972440" "0000450463" "0000972441" "0000450464" "0000972442" "0000466948" "0001044585"