### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IQCB1) # 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}}" "IQCB1" "IQ motif containing B1" "3" "q21.1" "unknown" "NG_015887.1" "UD_132118612535" "" "https://www.LOVD.nl/IQCB1" "" "1" "28949" "9657" "609237" "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/IQCB1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2020-11-25 19:02:38" "00000" "2023-01-11 15:44:22" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010103" "IQCB1" "transcript variant 1" "002" "NM_001023570.2" "" "NP_001018864.2" "" "" "" "-215" "2379" "1797" "121553926" "121488610" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00377" "SLSN" "Senior-Loken syndrome (SLSN)" "AR" "266900" "" "" "" "00006" "2014-05-02 10:22:56" "00006" "2021-12-10 21:51:32" "02836" "SLSN5" "Senior-Loken syndrome, type 5 (SLSN-5)" "AR" "609254" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IQCB1" "02836" ## Individuals ## Do not remove or alter this header ## ## Count = 162 "{{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}}" "00034507" "" "" "" "3" "" "00006" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs" "" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00034508" "" "" "" "1" "" "00006" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "6-generation family, affected male, family, unaffected heterozygous carrier parents/sibs" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00034509" "" "" "" "1" "" "00006" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "4-generation family, affected male, family, unaffected heterozygous carrier parents/sibs" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00034510" "" "" "" "1" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "South India" "" "00034511" "" "" "" "1" "" "00243" "" "" "M" "no" "India" "" "0" "" "" "North India" "" "00034512" "" "" "" "1" "" "00243" "" "" "F" "no" "India" "" "0" "" "" "North India" "" "00034513" "" "" "" "1" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "South India" "" "00080931" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00155482" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00155483" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab Christian" "" "00293185" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308412" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC00953" "00308516" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308517" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00309201" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309202" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328017" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001275" "00328086" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005007" "00328194" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007704" "00332182" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB333" "00332205" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB28" "00332266" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam10PatFBP_30" "00332274" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam28PatFBP_67" "00332458" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat21" "00332465" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat32" "00332555" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00333362" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat2" "00333939" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "398" "00333940" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "399" "00333949" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "410" "00333950" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "411" "00333974" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "438" "00335125" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "1955" "00335126" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "52" "00358728" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358729" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00360410" "" "" "" "1" "" "04036" "{PMID:Wang 2015: 26047050}" "index case" "F" "" "China" "" "0" "" "" "Asia" "571" "00362913" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ARRP165" "00372070" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-4" "00372414" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "154" "00372415" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "697" "00373894" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-326-773" "00376861" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "" "Turkey" "" "0" "" "" "" "Fam9" "00376862" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "yes" "Belgium" "" "0" "" "" "" "Fam10" "00376871" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "" "Italy" "" "0" "" "" "" "Fam21" "00377750" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377781" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00377916" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00377917" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00379720" "" "" "" "1" "" "00000" "{PMID:Hussain 2018:30087219}" "" "?" "" "Pakistan" "" "0" "" "" "" "N10" "00381033" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381034" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00381145" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "yes" "India" "" "0" "" "" "South Indian" "" "00381209" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "novel LOF mutations" "" "no" "" "" "0" "" "" "" "" "00381210" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "novel LOF mutations" "" "no" "" "" "0" "" "" "" "" "00381211" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "novel LOF mutations" "" "no" "" "" "0" "" "" "" "" "00382257" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "86" "00382556" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "418" "00382557" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "419" "00384316" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13641" "00384341" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13780" "00384351" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13862" "00384420" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14408" "00385024" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19398" "00385159" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "46" "00385235" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Portugal" "" "0" "" "" "" "" "00386160" "" "" "" "1" "" "00000" "{PMID:RodriguezjalopezMunoz 2020:32036094}" "family fRPN-100, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-234" "00386262" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-38, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-104" "00386267" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-45, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-116" "00387576" "" "" "" "5" "" "00000" "{PMID:Ghessari 2015:25851290}" "" "" "" "Iran" "" "0" "" "" "Iranian" "" "00388731" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 9, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "15" "00389157" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "441" "00389216" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "500" "00389217" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "501" "00389218" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "502" "00390289" "" "" "" "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" "" "" "" "G001275" "00390290" "" "" "" "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" "" "" "" "G005007" "00390291" "" "" "" "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" "" "" "" "G007704" "00390292" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012335" "00390746" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F4, patient III.1" "F" "" "Tunisia" "" "0" "" "" "" "F4_III.2" "00390747" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F4, patient III.2" "M" "" "Tunisia" "" "0" "" "" "" "F4_III.1" "00391652" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "49" "00391653" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "50" "00391654" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "51" "00391655" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "52" "00391751" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "136" "00394604" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "yes" "" "" "0" "" "" "" "" "00395429" "" "" "" "1" "" "00000" "{PMID:Shen 2021:34130719}" "" "F" "yes" "China" "" "0" "" "" "" "F10‑III" "00407123" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1, individual II-1" "?" "yes" "Germany" "" "0" "" "" "" "F1 (II-1)" "00407124" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1, individual II-2" "?" "yes" "Germany" "" "0" "" "" "" "F1 (II-2)" "00407125" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F399, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "F399 (II-1)" "00407126" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F408, individual II-1" "?" "no" "Switzerland" "" "0" "" "" "" "F408 (II-1)" "00407127" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F409, individual II-1" "?" "no" "Switzerland" "" "0" "" "" "" "F409 (II-1)" "00407128" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F53, individual II-2" "?" "no" "Germany" "" "0" "" "" "" "F53 (II-2)" "00407129" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F269, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "F269 (II-1)" "00407130" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family A19, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "A19 (II-1)" "00407131" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F2, individual II-1" "?" "no" "Italy" "" "0" "" "" "" "F2 (II-1)" "00407132" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F189, individual II-1" "?" "yes" "Germany" "" "0" "" "" "" "F189 (II-1)" "00407133" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F64, individual II-3" "?" "no" "" "" "0" "" "" "North Africa" "F64 (II-3)" "00407134" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1146, individual II-1" "?" "yes" "Belgium" "" "0" "" "" "" "F1146 (II-1)" "00407135" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1146, individual II-2" "?" "yes" "Belgium" "" "0" "" "" "" "F1146 (II-2)" "00407136" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family A132, individual IV-1" "?" "yes" "Turkey" "" "0" "" "" "" "A132 (IV-1)" "00407137" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family A132, individual IV-5" "?" "yes" "Turkey" "" "0" "" "" "" "A132 (IV-5)" "00407138" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family A132, individual IV-6" "?" "yes" "Turkey" "" "0" "" "" "" "A132 (IV-6)" "00407139" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F50, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "F50 (II-1)" "00407140" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F50, individual II-3" "?" "no" "Germany" "" "0" "" "" "" "F50 (II-3)" "00407141" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F54, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "F54 (II-1)" "00407142" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1175, individual II-1" "?" "no" "Germany" "" "0" "" "" "" "F1175 (II-1)" "00407143" "" "" "" "1" "" "00000" "{PMID:Otto 2005:15723066}" "family F1298, individual II-2" "?" "no" "Germany" "" "0" "" "" "" "F1298 (II-2)" "00407383" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Austria" "" "0" "" "" "" "A567" "00407384" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "yes" "Pakistan" "" "0" "" "" "" "A364" "00407385" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "yes" "Turkey" "" "0" "" "" "" "A1175" "00407386" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Germany" "" "0" "" "" "" "F1395" "00407387" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "yes" "Pakistan" "" "0" "" "" "" "A389" "00407407" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "F" "" "Germany" "" "0" "" "" "" "42108" "00407408" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "F" "" "Germany" "" "0" "" "" "" "12786" "00407409" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "F" "" "Morocco" "" "0" "" "" "" "BE77905" "00407410" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "M" "" "Netherlands" "" "0" "" "" "" "13079" "00407411" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "M" "" "Germany" "" "0" "" "" "" "42125" "00407412" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "F" "" "Germany" "" "0" "" "" "" "42110" "00407413" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "M" "" "United States" "" "0" "" "" "" "MOGL3572" "00407414" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "Family 1, proband" "M" "" "Puerto Rico" "" "0" "" "" "" "MOGL430" "00407415" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "Family 1, proband\'s daughter 1" "F" "" "Puerto Rico" "" "0" "" "" "" "MOGL3773" "00407416" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "Family 1, proband\'s daughter 2" "F" "" "Puerto Rico" "" "0" "" "" "" "MOGL3772" "00407417" "" "" "" "1" "" "00000" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "F" "" "Italy" "" "0" "" "" "" "MOGL3309" "00407586" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "F" "" "" "" "0" "" "" "" "1" "00407587" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "M" "" "" "" "0" "" "" "" "2" "00407588" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "M" "" "" "" "0" "" "" "" "3" "00407589" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "M" "" "" "" "0" "" "" "" "4" "00407590" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "M" "" "" "" "0" "" "" "" "5" "00407591" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "F" "" "" "" "0" "" "" "" "6" "00407592" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "F" "" "" "" "0" "" "" "" "7" "00407593" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "F" "" "" "" "0" "" "" "" "8" "00407594" "" "" "" "1" "" "00000" "{PMID:Stone 2011:21220633}" "" "F" "" "" "" "0" "" "" "" "9" "00407605" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "M" "" "" "" "0" "" "" "" "P15" "00407606" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "M" "" "" "" "0" "" "" "" "P16" "00407607" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "M" "" "" "" "0" "" "" "" "P17" "00407608" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "M" "" "" "" "0" "" "" "" "P18" "00407609" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "F" "" "" "" "0" "" "" "" "P19" "00407633" "" "" "" "1" "" "00000" "{PMID:Tong 2013:24674142}" "" "F" "" "China" "" "0" "" "" "" "II-4" "00407634" "" "" "" "1" "" "00000" "{PMID:Tong 2013:24674142}" "" "F" "" "China" "12y9m" "0" "" "" "" "II-5" "00407635" "" "" "" "1" "" "00000" "{PMID:Haghighi 2011:25984213}" "proband" "M" "" "Iran" "" "0" "" "" "" "VII-4" "00407636" "" "" "" "1" "" "00000" "{PMID:Haghighi 2011:25984213}" "proband\'s older sister" "F" "" "Iran" "26y" "0" "" "" "" "VII-3" "00407637" "" "" "" "1" "" "00000" "{PMID:Haghighi 2011:25984213}" "proband\'s brother" "M" "" "Iran" "" "0" "" "" "" "VII-5" "00407638" "" "" "" "1" "" "00000" "{PMID:Haghighi 2011:25984213}" "proband\'s cousin 1" "F" "" "Iran" "" "0" "" "" "" "VII-6" "00407639" "" "" "" "1" "" "00000" "{PMID:Haghighi 2011:25984213}" "proband\'s cousin 2" "F" "" "Iran" "" "0" "" "" "" "VII-1" "00407670" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-2" "00407671" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-3" "00407679" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "O-508" "00407693" "" "" "" "1" "" "00000" "{PMID:Fahim 2012:22183348}" "Ninety-eight affected males from 56 families" "" "" "" "" "0" "" "" "" "?" "00407694" "" "" "" "1" "" "00000" "{PMID:Fahim 2012:22183348}" "Ninety-eight affected males from 56 families" "" "" "" "" "0" "" "" "" "?" "00407763" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407764" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407765" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407766" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407767" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407768" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407769" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407770" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407771" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00407772" "" "" "" "1" "" "00000" "{PMID:Barbelanne 2013:23446637}" "" "" "" "" "" "0" "" "" "" "?" "00414407" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP74" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 162 "{{individualid}}" "{{diseaseid}}" "00034507" "04210" "00034508" "04210" "00034509" "04210" "00034510" "04210" "00034511" "04210" "00034512" "04210" "00034513" "04210" "00080931" "02836" "00155482" "04210" "00155483" "00377" "00293185" "00198" "00308412" "04214" "00308516" "04214" "00308517" "04214" "00309201" "04214" "00309202" "04214" "00328017" "04214" "00328086" "04214" "00328194" "04214" "00332182" "04214" "00332205" "04214" "00332266" "04214" "00332274" "04214" "00332458" "04214" "00332465" "04214" "00332555" "00198" "00333362" "04214" "00333939" "04214" "00333940" "04214" "00333949" "04214" "00333950" "04214" "00333974" "04214" "00335125" "00198" "00335126" "00198" "00358728" "04214" "00358729" "04214" "00360410" "04214" "00362913" "04214" "00372070" "04214" "00372414" "04214" "00372415" "04214" "00373894" "04214" "00376861" "04214" "00376862" "04214" "00376871" "04214" "00377750" "04214" "00377781" "04214" "00377916" "04214" "00377917" "04214" "00379720" "04214" "00381033" "04214" "00381034" "04214" "00381145" "04214" "00381209" "04214" "00381210" "04214" "00381211" "04214" "00382257" "04214" "00382556" "04214" "00382557" "04214" "00384316" "04214" "00384341" "04214" "00384351" "04214" "00384420" "04214" "00385024" "04214" "00385159" "04214" "00385235" "04214" "00386160" "04214" "00386262" "04214" "00386267" "04214" "00387576" "04214" "00388731" "04214" "00389157" "04214" "00389216" "04214" "00389217" "04214" "00389218" "04214" "00390289" "04214" "00390290" "04214" "00390291" "04214" "00390292" "04214" "00390746" "04214" "00390747" "04214" "00391652" "04214" "00391653" "04214" "00391654" "04214" "00391655" "04214" "00391751" "04214" "00394604" "04214" "00395429" "04214" "00407123" "04214" "00407124" "04214" "00407125" "04214" "00407126" "04214" "00407127" "04214" "00407128" "04214" "00407129" "04214" "00407130" "04214" "00407131" "04214" "00407132" "04214" "00407133" "04214" "00407134" "04214" "00407135" "04214" "00407136" "04214" "00407137" "04214" "00407138" "04214" "00407139" "04214" "00407140" "04214" "00407141" "04214" "00407142" "04214" "00407143" "04214" "00407383" "04214" "00407384" "04214" "00407385" "04214" "00407386" "04214" "00407387" "04214" "00407407" "04214" "00407408" "04214" "00407409" "04214" "00407410" "04214" "00407411" "04214" "00407412" "04214" "00407413" "04214" "00407414" "04214" "00407415" "04214" "00407416" "04214" "00407417" "04214" "00407586" "04214" "00407587" "04214" "00407588" "04214" "00407589" "04214" "00407590" "04214" "00407591" "04214" "00407592" "04214" "00407593" "04214" "00407594" "04214" "00407605" "04214" "00407606" "04214" "00407607" "04214" "00407608" "04214" "00407609" "04214" "00407633" "04214" "00407634" "04214" "00407635" "04214" "00407636" "04214" "00407637" "04214" "00407638" "04214" "00407639" "04214" "00407670" "04214" "00407671" "04214" "00407679" "04214" "00407693" "04214" "00407694" "04214" "00407763" "04214" "00407764" "04214" "00407765" "04214" "00407766" "04214" "00407767" "04214" "00407768" "04214" "00407769" "04214" "00407770" "04214" "00407771" "04214" "00407772" "04214" "00414407" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00377, 02836, 04210, 04214 ## Count = 161 "{{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}}" "0000027911" "04210" "00034507" "01263" "Isolated (sporadic)" "" "typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosi" "" "" "" "" "" "" "" "" "" "" "" "0000027912" "04210" "00034508" "01263" "Isolated (sporadic)" "" "typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis" "" "" "" "" "" "" "" "" "" "" "" "0000027913" "04210" "00034509" "01263" "Isolated (sporadic)" "" "typical LCA Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis" "" "" "" "" "" "" "" "" "" "" "" "0000027914" "04210" "00034510" "00243" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027915" "04210" "00034511" "00243" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027916" "04210" "00034512" "00243" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027917" "04210" "00034513" "00243" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000060500" "02836" "00080931" "01758" "Familial, autosomal recessive" "" "Senior-Loken syndrome type 5 (OMIM:609254)" "" "" "" "" "" "" "" "" "" "" "" "0000127982" "04210" "00155482" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000127983" "00377" "00155483" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000233839" "04214" "00308412" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233944" "04214" "00308516" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233945" "04214" "00308517" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234521" "04214" "00309201" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000234522" "04214" "00309202" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000246244" "04214" "00328017" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000246313" "04214" "00328086" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246421" "04214" "00328194" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250369" "04214" "00332182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000250392" "04214" "00332205" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (early-onset retinal degeneration)" "" "0000250453" "04214" "00332266" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250461" "04214" "00332274" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250642" "04214" "00332458" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EORP" "" "0000250649" "04214" "00332465" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EORP" "" "0000250743" "00198" "00332555" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000251549" "04214" "00333362" "00000" "Unknown" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252124" "04214" "00333939" "00000" "Familial, autosomal recessive" "5y" "clinical category IA2a" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000252125" "04214" "00333940" "00000" "Familial, autosomal recessive" "13y" "clinical category IA2a" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000252134" "04214" "00333949" "00000" "Familial, autosomal recessive" "53y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000252135" "04214" "00333950" "00000" "Familial, autosomal recessive" "28y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000252159" "04214" "00333974" "00000" "Familial, autosomal recessive" "6y" "clinical category IA2c" "" "" "" "" "" "" "" "" "" "early childhood onset retinal dystrophy" "" "0000252840" "00198" "00335125" "00000" "Familial, autosomal recessive" "" "Senior Loken syndrome" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252841" "00198" "00335126" "00000" "Unknown" "" "5y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "bradyopsia" "" "0000253943" "04214" "00358728" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000253944" "04214" "00358729" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255815" "04214" "00360410" "04036" "Unknown" "" "visual acuity: OD = light perception, OS = light perception. Patient experienced hyperopia" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000258279" "04214" "00362913" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267399" "04214" "00372070" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267729" "04214" "00372414" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267730" "04214" "00372415" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000269103" "04214" "00373894" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000272072" "04214" "00376861" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Senior–Loken syndrome" "" "0000272073" "04214" "00376862" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Senior–Loken syndrome" "" "0000272082" "04214" "00376871" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, intellectual disability" "" "0000272896" "04214" "00377750" "00000" "Familial" "" "microcephaly,retinal dystrophy,nystagmus,cerebellar vermis aplasia,ataxia,mental retar" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000272927" "04214" "00377781" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000273062" "04214" "00377916" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Senior Loken syndrome (SLSN)" "" "0000273063" "04214" "00377917" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Senior Loken syndrome (SLSN)" "" "0000273565" "04214" "00379720" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000274884" "04214" "00381033" "00000" "Isolated (sporadic)" "<1y" "poor vision, nystagmus" "28y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274885" "04214" "00381034" "00000" "Isolated (sporadic)" "<1y" "poor vision, roving nystagmus" "4m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274996" "04214" "00381145" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275060" "04214" "00381209" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275061" "04214" "00381210" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275062" "04214" "00381211" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276106" "04214" "00382257" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276405" "04214" "00382556" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276406" "04214" "00382557" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278101" "04214" "00384316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis(Senior-Loken syndrome)" "" "0000278126" "04214" "00384341" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis?" "" "0000278136" "04214" "00384351" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278205" "04214" "00384420" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278808" "04214" "00385024" "00000" "Isolated (sporadic)" "6y" "nyctalopia, no nystagmus, ERG severely declined, best corrected visual acuity right/left eye: 0.3/0.2" "4y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278955" "04214" "00385159" "00000" "Familial, autosomal recessive" "28y11m" "Referred with FHx of SLS but does not fulfil criteria; HP:0000510 Rod-cone dystrophy" "" "" "" "" "" "" "" "" "" "Senior Loken syndrome" "" "0000279031" "04214" "00385235" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279963" "04214" "00386160" "00000" "Familial, autosomal dominant" "67y" "" "" "56y" "" "" "" "" "" "" "late onset��retinal deg" "" "" "0000280065" "04214" "00386262" "00000" "Familial, autosomal recessive" "40y" "" "" "0m" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280070" "04214" "00386267" "00000" "Familial, X-linked dominant" "83y" "" "" "10y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000281139" "04214" "00387576" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000282272" "04214" "00388731" "00000" "Familial, autosomal recessive" "66y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282698" "04214" "00389157" "00000" "Familial, autosomal recessive" "5y" "age at genetic diagnosis mentioned" "" "3y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282757" "04214" "00389216" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282758" "04214" "00389217" "00000" "Familial, autosomal recessive" "26y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282759" "04214" "00389218" "00000" "Familial, autosomal recessive" "16y" "age at genetic diagnosis mentioned" "" "10y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283827" "04214" "00390289" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283828" "04214" "00390290" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283829" "04214" "00390291" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283830" "04214" "00390292" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284234" "04214" "00390746" "00000" "Familial, autosomal recessive" "8y" "Visual acuity right eye/left eye: 1/20_1/20, normal fundus appearance, normal macula, ERG: extinct response" "0m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000284235" "04214" "00390747" "00000" "Familial, autosomal recessive" "1y" "" "0m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000284977" "04214" "00391652" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000284978" "04214" "00391653" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000284979" "04214" "00391654" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000284980" "04214" "00391655" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/40:20/50" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285076" "04214" "00391751" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "0m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000287807" "04214" "00394604" "00000" "Familial, autosomal recessive" "55y" "" "38y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288628" "04214" "00395429" "00000" "Familial, autosomal recessive" "29y" "Vision impairment, nystagmus, best corrected visual acuity hand movement/hand movement" "<1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299477" "04214" "00407123" "00000" "Familial, autosomal recessive" "15y" "" "<3y" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299478" "04214" "00407124" "00000" "Familial, autosomal recessive" "12y" "" "<3y" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299479" "04214" "00407125" "00000" "Familial, autosomal recessive" "32y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299480" "04214" "00407126" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299481" "04214" "00407127" "00000" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299482" "04214" "00407128" "00000" "Familial, autosomal recessive" "16y" "" "<1y" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299483" "04214" "00407129" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299484" "04214" "00407130" "00000" "Familial, autosomal recessive" "<15y" "" "<1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299485" "04214" "00407131" "00000" "Familial, autosomal recessive" "9y" "" "5m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299486" "04214" "00407132" "00000" "Familial, autosomal recessive" "<13y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299487" "04214" "00407133" "00000" "Familial, autosomal recessive" "<20y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299488" "04214" "00407134" "00000" "Familial, autosomal recessive" "12y" "" "6m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299489" "04214" "00407135" "00000" "Familial, autosomal recessive" ">13y" "Serum creatinine was 2.0 mg dl1 at age 13 years." "1y6m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299490" "04214" "00407136" "00000" "Familial, autosomal recessive" "<12y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299491" "04214" "00407137" "00000" "Familial, autosomal recessive" "<8y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299492" "04214" "00407138" "00000" "Familial, autosomal recessive" "<6y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299493" "04214" "00407139" "00000" "Familial, autosomal recessive" "12y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299494" "04214" "00407140" "00000" "Familial, autosomal recessive" ">13y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299495" "04214" "00407141" "00000" "Familial, autosomal recessive" "<24y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299496" "04214" "00407142" "00000" "Familial, autosomal recessive" "10y" "" "5m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299497" "04214" "00407143" "00000" "Familial, autosomal recessive" "15y" "" "1m" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299737" "04214" "00407383" "00000" "Familial, autosomal recessive" "47y" "extrarenal manifestations: Leber congenital amaurosis" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299738" "04214" "00407384" "00000" "Familial, autosomal recessive" "9y" "extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299739" "04214" "00407385" "00000" "Familial, autosomal recessive" "7y" "extrarenal manifestations: Leber congenital amaurosis" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299740" "04214" "00407386" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: Leber congenital amaurosis" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299741" "04214" "00407387" "00000" "Familial, autosomal recessive" "8y" "extrarenal manifestations: Leber congenital amaurosis" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299744" "04214" "00407407" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity right/left eye: 0.1/0.1(20/200), refractive error (diopter): hyperopia (+6.5 both eyes); fundus: vitreous cells, optic nerve normal, narrowed retinal vessels, no foveolar light reflex, relatively preserved retinal pigment epithelium in posterior pole, and hypopigmented spots surrounded by hyperpigmented areas in a globular pattern outside the arcades, electroretinogram: nondetectable, perimetry: concentric narrowing to 5deg" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299745" "04214" "00407408" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right/left eye: 0.01/0.01, refractive error (diopter): hyperopia (+5.0 / +4.0); fundus: granular fundus (salt-and-pepper pigmentation); macula and optic disc normal, electroretinogram: nondetectable (1 year), perimetry: not available, kidney findings: normal" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299746" "04214" "00407409" "00000" "Familial, autosomal recessive" "15y" "best corrected visual acuity right/left eye: 0.30/0.30 (20/70), refractive error (diopter): esotropia of the right eye; fundus: granular flecks at the posterior pole, normal optic nerve, electroretinogram: nondetectable, perimetry: not available, kidney findings: norm" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299747" "04214" "00407410" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: No light perception, refractive error (diopter): not available; fundus: peripheral pigmentations and Coat\'s like changes, electroretinogram: nondetectable (1 year), perimetry: not available, kidney findings: nephronophthisis, kidney transplant at age" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299748" "04214" "00407411" "00000" "Familial, autosomal recessive" "28y" "best corrected visual acuity right/left eye: 0.05/0.05 (20/400), refractive error (diopter): hyperopia (+7.5); fundus: normal optic nerve, slightly narrowed and straightened retinal vessels, very mild macular retinal pigment epithelium atrophy, peripheral hypopigmented areas with mild retinal pigment epithelium clumping, electroretinogram: nondetectable, perimetry: concentric narrowing to 5deg, kidney findings: nephronophthisis, chronic sclerotic tubulo-interstitial nephropathy with extensive tubular atrophy; dialysis since age 23" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299749" "04214" "00407412" "00000" "Familial, autosomal recessive" "56y" "best corrected visual acuity right/left eye: 0.1/0.2, refractive error (diopter): hyperopia (+ 5.5 / +6.0); fundus: not available, electroretinogram: minimal responses in 33 hz flicker, perimetry: concentric narrowing to 8deg, kidney findings: nephronophthisis, dialysis since age 50" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299750" "04214" "00407413" "00000" "Familial, autosomal recessive" "8y" "best corrected visual acuity right/left eye: Fix and follow inconsistently, refractive error (diopter): hyperopia (+6.0); fundus: granular-appearing fundus; normal optic nerve, electroretinogram: nondetectable, perimetry: not available, kidney findings: normal" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299751" "04214" "00407414" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right/left eye: Light perception, refractive error (diopter): not available; fundus: not available, electroretinogram: nondetectable, perimetry: not available, kidney findings: nephronophthisis, kidney transplant at age 24" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299752" "04214" "00407415" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right/left eye: Light perception, refractive error (diopter): not available; fundus: not available, electroretinogram: nondetectable, perimetry: not available, kidney findings: nephronophthisis, dialysis since age 13" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299753" "04214" "00407416" "00000" "Familial, autosomal recessive" "12y" "best corrected visual acuity right/left eye: Light perception, refractive error (diopter): not available; fundus: not available, electroretinogram: nondetectable, perimetry: not available, nephronophthisis, kidney transplant at age 9" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299754" "04214" "00407417" "00000" "Familial, autosomal recessive" "10y" "best corrected visual acuity right/left eye: Light perception, refractive error (diopter): hyperopia (+3.0 / 5.5); fundus: optic nerve normal- appearing, narrowed retinal arterioles, relatively normal- appearing fovea and macula, hypopigmented areas surrounded by hyperpigmented areas in a globular pattern, electroretinogram: nondetectable, perimetry: not available, kidney findings: nephronophthisis osed at age 3" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299755" "04214" "00407586" "00000" "Familial, autosomal recessive" "" "4y: refraction (spherical equivalent): +6.75, electroretinogram: not detectable, renal disease: severe (by age 13 y); 23y: best corrected visual acuity right, left eye: 20/80, 20/200" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299756" "04214" "00407587" "00000" "Familial, autosomal recessive" "" "5y: best corrected visual acuity right, left eye: light perception, light perception, refraction (spherical equivalent): +7.5, electroretinogram: not performed, renal disease: none" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299757" "04214" "00407588" "00000" "Familial, autosomal recessive" "" "7y: best corrected visual acuity right, left eye: 20/400, 20/800, refraction (spherical equivalent): +6, electroretinogram: not detectable, renal disease: none" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299758" "04214" "00407589" "00000" "Familial, autosomal recessive" "" "13y: best corrected visual acuity right, left eye: 20/200, 20/200, refraction (spherical equivalent): +4, electroretinogram: not detectable, renal disease: none" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299759" "04214" "00407590" "00000" "Familial, autosomal recessive" "" "14y: best corrected visual acuity right, left eye: hand motions, hand motions, electroretinogram: not detectable, renal disease: severe (by age 13 y)" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299760" "04214" "00407591" "00000" "Familial, autosomal recessive" "" "8y: best corrected visual acuity right, left eye: 20/200, 20/200, refraction (spherical equivalent): +6, electroretinogram: not performed, renal disease: none" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299761" "04214" "00407592" "00000" "Familial, autosomal recessive" "" "3y: best corrected visual acuity right, left eye: 20/1000, 20/1000, refraction (spherical equivalent): +9, electroretinogram: not detectable, renal disease: none; 12y: best corrected visual acuity right, left eye: hand motions, hand motions, refraction (spherical equivalent): +5, electroretinogram: not performed, renal disease: none; 19y: best corrected visual acuity right, left eye: light perception, light perception, electroretinogram: not performed, renal disease: elevated creatinine level" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299762" "04214" "00407593" "00000" "Familial, autosomal recessive" "" "1y: best corrected visual acuity right, left eye: 20/260, 20/290, refraction (spherical equivalent): +6.5, electroretinogram: not detectable, renal disease: none; 3y: best corrected visual acuity right, left eye: light perception, light perception" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299763" "04214" "00407594" "00000" "Familial, autosomal recessive" "" "14y: best corrected visual acuity right, left eye: light perception, light perception, refraction (spherical equivalent): +5.25, electroretinogram: not performed, renal disease: none" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299770" "04214" "00407605" "00000" "Familial, autosomal recessive" "5y" "best corrected visual acuity right/left eye: light perception /light perception , refraction:+7.5/+7.5, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299771" "04214" "00407606" "00000" "Familial, autosomal recessive" "7y" "best corrected visual acuity right/left eye: 20/400/20/800, refraction:+6/+6, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: rod and cone; 23" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299772" "04214" "00407607" "00000" "Familial, autosomal recessive" "8y" "best corrected visual acuity right/left eye: light perception /light perception , refraction:+9/+9, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299773" "04214" "00407608" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity right/left eye: 20/200/20/200, refraction:+4/+4, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299774" "04214" "00407609" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity right/left eye: 20/80/20/200, refraction:+1/+1, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299779" "04214" "00407633" "00000" "Familial, autosomal recessive" "" "polyuria, nocturia and polydipsia: yes, urine osmolality in the morning: 1.01, haemoglobin (anaemia): 106.0-110.0 g/L (mild), growth retardation (degree): severe (-3.7 SD), age upon development of end-stage renal disease: 16 years and 9 months, blood pressure (bp):125/94-140/100 mmHg, eye involvement: Leber congenital amaurosis, renal ultrasound: cysts: suspicious, kidney size: no" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299780" "04214" "00407634" "00000" "Familial, autosomal recessive" "" "polyuria, nocturia and polydipsia: no, urine osmolality in the morning: 1.01, haemoglobin (anaemia): 64.0 g/L (moderate), growth retardation (degree): severe (-8.1 SD), age upon development of end-stage renal disease: 12 years and 9 months, blood pressure (bp):109/76 mmHg, eye involvement: Leber congenital amaurosis, renal ultrasound: cysts: yes, kidney size: small" "<1y" "6y" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299781" "04214" "00407635" "00000" "Familial, autosomal recessive" "" "presented at the age of 26 years with established renal failure and blindness; ophthalmologic evaluation:retinitis pigmentosa and cataracts; polyuria and polydipsia; 18y: lower limb oedema - advanced renal failure (serum creatinine; 11.3 mg/dL); ultrasonography of the abdomen: both kidneys normal size with a hyperechogenic cortex and mild hydronephrosis, 28-mm small cyst in the upper pole of the right kidney; percutaneous renal biopsy: medullary cystic changes - nephronophtisis; subsequently, successful renal transplantation" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299782" "04214" "00407636" "00000" "Familial, autosomal recessive" "" "decreased vision during teenage years that resulted in complete blindness at 20 years of age; 26y: severe peripheral oedema, died due to complications of end-stage renal failure" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299783" "04214" "00407637" "00000" "Familial, autosomal recessive" "" "blind at 17 years of age, end-stage renal failure occurred 2 years later; renal transplantation - currently in good health." "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299784" "04214" "00407638" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299785" "04214" "00407639" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000299817" "04214" "00407670" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 11, extra-renal manifestations: retinal dystrophy, leber congenital amaurosis, nystagmus" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299818" "04214" "00407671" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 10.8, extra-renal manifestations: retinal dystrophy, leber congenital amaurosis" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299826" "04214" "00407679" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 17.9, extra-renal manifestations: congenital cataract" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299840" "04214" "00407693" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000299841" "04214" "00407694" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000299893" "04214" "00407763" "00000" "Unknown" "" "" "" "" "" "proficient in Cep290-binding, could not be targeted to the centrosome, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299894" "04214" "00407764" "00000" "Unknown" "" "" "" "" "" "proficient in Cep290-binding, could not be targeted to the centrosome, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299895" "04214" "00407765" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, normally targeted to the centrosome, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299896" "04214" "00407766" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, normally targeted to the centrosome, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299897" "04214" "00407767" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, normally targeted to the centrosome, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299898" "04214" "00407768" "00000" "Unknown" "" "" "" "" "" "failed to interact with CaM, deficient in Cep290-binding, mislocalised, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299899" "04214" "00407769" "00000" "Unknown" "" "" "" "" "" "failed to interact with CaM, deficient in Cep290-binding, mislocalised, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299900" "04214" "00407770" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, mislocalised, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299901" "04214" "00407771" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, mislocalised, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000299902" "04214" "00407772" "00000" "Unknown" "" "" "" "" "" "deficient in Cep290-binding, mislocalised, failed to rescue ciliogenesis" "" "" "" "" "Leber congenital amaurosis / Senior-Lokan syndrome" "" "" "0000306242" "00198" "00414407" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome 5" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 162 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034578" "00034507" "1" "00006" "00006" "2011-07-08 22:09:15" "00006" "2011-07-27 21:41:50" "SEQ" "DNA" "" "" "0000034579" "00034508" "1" "01263" "01263" "2011-07-08 22:11:50" "00006" "2011-07-27 21:42:58" "SEQ" "DNA" "" "" "0000034580" "00034509" "1" "01263" "01263" "2011-07-08 18:27:41" "00006" "2011-07-27 21:43:41" "SEQ" "DNA" "" "" "0000034581" "00034510" "1" "00243" "00243" "2015-01-23 06:06:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034582" "00034511" "1" "00243" "00243" "2015-02-19 11:35:14" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000034583" "00034512" "1" "00243" "00243" "2015-02-19 10:45:07" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000034584" "00034513" "1" "00243" "00243" "2015-02-19 10:36:07" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081043" "00080931" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156347" "00155482" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156348" "00155483" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000294353" "00293185" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309556" "00308412" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309661" "00308516" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309662" "00308517" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310346" "00309201" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310347" "00309202" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329232" "00328017" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329301" "00328086" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329409" "00328194" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000333402" "00332182" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333425" "00332205" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333486" "00332266" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000333494" "00332274" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000333682" "00332458" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel" "0000333689" "00332465" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel" "0000333779" "00332555" "1" "01807" "01807" "2021-02-22 10:21:02" "" "" "SEQ" "DNA" "" "" "0000334587" "00333362" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335165" "00333939" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335166" "00333940" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335175" "00333949" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335176" "00333950" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335200" "00333974" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336354" "00335125" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336355" "00335126" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359958" "00358728" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359959" "00358729" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000361638" "00360410" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000364141" "00362913" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373298" "00372070" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000373647" "00372414" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373648" "00372415" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000375126" "00373894" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000378066" "00376861" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000378067" "00376862" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000378076" "00376871" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000378954" "00377750" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378985" "00377781" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000379120" "00377916" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379121" "00377917" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000380922" "00379720" "1" "00000" "03840" "2021-08-06 16:47:19" "00006" "2021-08-06 16:49:30" "PCR;SEQ" "DNA" "blood" "" "0000382247" "00381033" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382248" "00381034" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382360" "00381145" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "Asper chip analysis" "0000382424" "00381209" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382425" "00381210" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382426" "00381211" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000383471" "00382257" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383770" "00382556" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383771" "00382557" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000385541" "00384316" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385566" "00384341" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385576" "00384351" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385645" "00384420" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386253" "00385024" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386388" "00385159" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386464" "00385235" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000387389" "00386160" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387491" "00386262" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387496" "00386267" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388802" "00387576" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000389974" "00388731" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390400" "00389157" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390459" "00389216" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390460" "00389217" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390461" "00389218" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391530" "00390289" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391531" "00390290" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391532" "00390291" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391533" "00390292" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391987" "00390746" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391988" "00390747" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "arraySNP" "0000392893" "00391652" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392894" "00391653" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392895" "00391654" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392896" "00391655" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392992" "00391751" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000395851" "00394604" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396667" "00395429" "1" "00000" "03840" "2021-12-06 14:47:57" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000408371" "00407123" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408372" "00407124" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408373" "00407125" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408374" "00407126" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408375" "00407127" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408376" "00407128" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408377" "00407129" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408378" "00407130" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408379" "00407131" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408380" "00407132" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408381" "00407133" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408382" "00407134" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408383" "00407135" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408384" "00407136" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408385" "00407137" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408386" "00407138" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408387" "00407139" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408388" "00407140" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408389" "00407141" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408390" "00407142" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408391" "00407143" "1" "00000" "03840" "2022-04-06 13:06:30" "" "" "RT-PCR;SEQ" "RNA" "blood (EBV-transformed lymphoblast cell lines)" "candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)" "0000408631" "00407383" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP28" "0000408632" "00407384" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP29" "0000408633" "00407385" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP30" "0000408634" "00407386" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP31" "0000408635" "00407387" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP32" "0000408655" "00407407" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408656" "00407408" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408657" "00407409" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408658" "00407410" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408659" "00407411" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408660" "00407412" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408661" "00407413" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408662" "00407414" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408663" "00407415" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408664" "00407416" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408665" "00407417" "1" "00000" "03840" "2022-04-06 16:39:51" "" "" "SEQ" "DNA" "blood" "" "0000408834" "00407586" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408835" "00407587" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408836" "00407588" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408837" "00407589" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408838" "00407590" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408839" "00407591" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408840" "00407592" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408841" "00407593" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408842" "00407594" "1" "00000" "03840" "2022-04-06 19:14:38" "" "" "SEQ" "DNA" "blood" "" "0000408853" "00407605" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" "" "0000408854" "00407606" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" "" "0000408855" "00407607" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" "" "0000408856" "00407608" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" "" "0000408857" "00407609" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" "" "0000408885" "00407633" "1" "00000" "03840" "2022-04-07 12:44:03" "" "" "SEQ" "DNA" "" "" "0000408886" "00407634" "1" "00000" "03840" "2022-04-07 12:44:03" "" "" "SEQ" "DNA" "" "" "0000408887" "00407635" "1" "00000" "03840" "2022-04-07 13:02:29" "" "" "SEQ" "DNA" "" "" "0000408888" "00407636" "1" "00000" "03840" "2022-04-07 13:02:29" "" "" "SEQ" "DNA" "" "" "0000408889" "00407637" "1" "00000" "03840" "2022-04-07 13:02:29" "" "" "SEQ" "DNA" "" "" "0000408890" "00407638" "1" "00000" "03840" "2022-04-07 13:02:29" "" "" "SEQ" "DNA" "" "" "0000408891" "00407639" "1" "00000" "03840" "2022-04-07 13:02:29" "" "" "SEQ" "DNA" "" "" "0000408922" "00407670" "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" "0000408923" "00407671" "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" "0000408931" "00407679" "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" "0000408945" "00407693" "1" "00000" "03840" "2022-04-07 20:30:46" "" "" "SEQp" "DNA" "" "" "0000408946" "00407694" "1" "00000" "03840" "2022-04-07 20:30:46" "" "" "SEQp" "DNA" "" "" "0000409015" "00407763" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409016" "00407764" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409017" "00407765" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409018" "00407766" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409019" "00407767" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409020" "00407768" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409021" "00407769" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409022" "00407770" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409023" "00407771" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000409024" "00407772" "1" "00000" "03840" "2022-04-08 13:57:51" "" "" "?" "DNA" "" "" "0000415687" "00414407" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 155 "{{screeningid}}" "{{geneid}}" "0000034578" "IQCB1" "0000034579" "IQCB1" "0000034580" "IQCB1" "0000034581" "IQCB1" "0000034582" "IQCB1" "0000034583" "IQCB1" "0000034584" "IQCB1" "0000081043" "IQCB1" "0000156347" "IQCB1" "0000156348" "IQCB1" "0000309556" "IQCB1" "0000309661" "IQCB1" "0000309662" "IQCB1" "0000310346" "IQCB1" "0000310347" "IQCB1" "0000329232" "IQCB1" "0000329301" "IQCB1" "0000329409" "IQCB1" "0000333486" "IQCB1" "0000333494" "IQCB1" "0000333682" "IQCB1" "0000333689" "IQCB1" "0000335165" "IQCB1" "0000335166" "IQCB1" "0000335175" "IQCB1" "0000335176" "IQCB1" "0000335200" "IQCB1" "0000336354" "IQCB1" "0000336355" "IQCB1" "0000359958" "IQCB1" "0000359959" "IQCB1" "0000361638" "PRPH2" "0000364141" "IQCB1" "0000373298" "IQCB1" "0000373647" "IQCB1" "0000373648" "IQCB1" "0000375126" "IQCB1" "0000378954" "IQCB1" "0000378985" "IQCB1" "0000379120" "IQCB1" "0000379121" "IQCB1" "0000380922" "IQCB1" "0000382247" "IQCB1" "0000382248" "IQCB1" "0000382360" "CRX" "0000382360" "RPE65" "0000382424" "IQCB1" "0000382425" "IQCB1" "0000382426" "IQCB1" "0000383471" "CNGB1" "0000383770" "IQCB1" "0000383771" "IQCB1" "0000385541" "IQCB1" "0000385566" "IQCB1" "0000385576" "IQCB1" "0000385645" "IQCB1" "0000386253" "IQCB1" "0000386388" "IQCB1" "0000386464" "ALMS1" "0000387389" "C1QTNF5" "0000387491" "AIPL1" "0000387496" "RPGR" "0000388802" "IQCB1" "0000389974" "IQCB1" "0000390400" "IQCB1" "0000390459" "IQCB1" "0000390460" "IQCB1" "0000390461" "IQCB1" "0000391530" "IQCB1" "0000391531" "IQCB1" "0000391532" "IQCB1" "0000391533" "IQCB1" "0000391987" "IQCB1" "0000391988" "IQCB1" "0000392893" "IQCB1" "0000392894" "IQCB1" "0000392895" "IQCB1" "0000392896" "IQCB1" "0000392992" "IQCB1" "0000395851" "IQCB1" "0000396667" "IQCB1" "0000408371" "IQCB1" "0000408372" "IQCB1" "0000408373" "IQCB1" "0000408374" "IQCB1" "0000408375" "IQCB1" "0000408376" "IQCB1" "0000408377" "IQCB1" "0000408378" "IQCB1" "0000408379" "IQCB1" "0000408380" "IQCB1" "0000408381" "IQCB1" "0000408382" "IQCB1" "0000408383" "IQCB1" "0000408384" "IQCB1" "0000408385" "IQCB1" "0000408386" "IQCB1" "0000408387" "IQCB1" "0000408388" "IQCB1" "0000408389" "IQCB1" "0000408390" "IQCB1" "0000408391" "IQCB1" "0000408631" "IQCB1" "0000408632" "IQCB1" "0000408633" "IQCB1" "0000408634" "IQCB1" "0000408635" "IQCB1" "0000408655" "IQCB1" "0000408656" "IQCB1" "0000408657" "IQCB1" "0000408658" "IQCB1" "0000408659" "IQCB1" "0000408660" "IQCB1" "0000408661" "IQCB1" "0000408662" "IQCB1" "0000408663" "IQCB1" "0000408664" "IQCB1" "0000408665" "IQCB1" "0000408834" "IQCB1" "0000408835" "IQCB1" "0000408836" "IQCB1" "0000408837" "IQCB1" "0000408838" "IQCB1" "0000408839" "IQCB1" "0000408840" "IQCB1" "0000408841" "IQCB1" "0000408842" "IQCB1" "0000408853" "IQCB1" "0000408854" "IQCB1" "0000408855" "IQCB1" "0000408856" "IQCB1" "0000408857" "IQCB1" "0000408885" "IQCB1" "0000408886" "IQCB1" "0000408887" "IQCB1" "0000408888" "IQCB1" "0000408889" "IQCB1" "0000408890" "IQCB1" "0000408891" "IQCB1" "0000408922" "IQCB1" "0000408923" "IQCB1" "0000408931" "IQCB1" "0000408945" "IQCB1" "0000408946" "RPGRIP1L" "0000409015" "IQCB1" "0000409016" "IQCB1" "0000409017" "IQCB1" "0000409018" "IQCB1" "0000409019" "IQCB1" "0000409020" "IQCB1" "0000409021" "IQCB1" "0000409022" "IQCB1" "0000409023" "IQCB1" "0000409024" "IQCB1" "0000415687" "IQCB1" ## 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 = 273 "{{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}}" "0000061675" "3" "90" "3" "121507280" "121507280" "subst" "0" "01263" "IQCB1_000002" "g.121507280C>G" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.121788433C>G" "" "pathogenic" "" "0000061676" "3" "90" "3" "121507280" "121507280" "subst" "0" "01263" "IQCB1_000002" "g.121507280C>G" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.121788433C>G" "" "pathogenic" "" "0000061677" "3" "90" "3" "121491492" "121491492" "subst" "0" "01263" "IQCB1_000001" "g.121491492G>T" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.121772645G>T" "" "pathogenic" "" "0000061678" "10" "90" "3" "121507125" "121507125" "subst" "0" "00243" "IQCB1_000003" "g.121507125A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121788278A>T" "" "pathogenic" "" "0000061679" "10" "70" "3" "121500667" "121500667" "subst" "0" "00243" "IQCB1_000004" "g.121500667G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121781820G>A" "" "likely pathogenic" "" "0000061680" "10" "70" "3" "121500637" "121500637" "subst" "0" "00243" "IQCB1_000005" "g.121500637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121781790G>A" "" "likely pathogenic" "" "0000061681" "10" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00243" "IQCB1_000006" "g.121491413G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic" "" "0000061685" "20" "90" "3" "121507125" "121507125" "subst" "0" "00243" "IQCB1_000003" "g.121507125A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121788278A>T" "" "pathogenic" "" "0000061686" "20" "70" "3" "121500667" "121500667" "subst" "0" "00243" "IQCB1_000004" "g.121500667G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121781820G>A" "" "likely pathogenic" "" "0000061687" "20" "70" "3" "121500637" "121500637" "subst" "0" "00243" "IQCB1_000005" "g.121500637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121781790G>A" "" "likely pathogenic" "" "0000061688" "20" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00243" "IQCB1_000006" "g.121491413G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic" "" "0000130129" "3" "70" "3" "121491430" "121491431" "dup" "0" "01758" "IQCB1_000007" "g.121491430_121491431dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.121772583_121772584dup" "" "likely pathogenic" "ACMG" "0000246107" "0" "10" "3" "121518221" "121518221" "subst" "0.000784599" "02330" "IQCB1_000028" "g.121518221A>G" "" "" "" "IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121799374A>G" "" "benign" "" "0000246113" "0" "30" "3" "121516059" "121516059" "subst" "0.000589791" "02330" "IQCB1_000022" "g.121516059A>C" "" "" "" "IQCB1(NM_001023570.4):c.782T>G (p.L261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797212A>C" "" "likely benign" "" "0000250782" "0" "30" "3" "121518221" "121518221" "subst" "0.000784599" "02326" "IQCB1_000028" "g.121518221A>G" "" "" "" "IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121799374A>G" "" "likely benign" "" "0000251073" "0" "10" "3" "121527826" "121527826" "subst" "0.00261678" "02326" "IQCB1_000031" "g.121527826A>G" "" "" "" "IQCB1(NM_001023570.4):c.424T>C (p.F142L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121808979A>G" "" "benign" "" "0000251295" "0" "10" "3" "121518246" "121518246" "del" "0" "02326" "IQCB1_000030" "g.121518246del" "" "" "" "IQCB1(NM_001023570.4):c.588-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121799399del" "" "benign" "" "0000251296" "0" "10" "3" "121526161" "121526161" "del" "0" "02326" "IQCB1_000045" "g.121526161del" "" "" "" "IQCB1(NM_001023570.4):c.587+38delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121807314del" "" "benign" "" "0000251755" "0" "30" "3" "121516059" "121516059" "subst" "0.000589791" "02326" "IQCB1_000022" "g.121516059A>C" "" "" "" "IQCB1(NM_001023570.4):c.782T>G (p.L261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797212A>C" "" "likely benign" "" "0000253567" "0" "10" "3" "121507231" "121507231" "subst" "0.0915615" "01943" "IQCB1_000016" "g.121507231A>T" "" "" "" "IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121788384A>T" "" "benign" "" "0000253765" "0" "10" "3" "121489442" "121489442" "del" "0" "01943" "IQCB1_000009" "g.121489442del" "" "" "" "IQCB1(NM_001023570.3):c.1568-19delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121770595del" "" "benign" "" "0000254001" "0" "30" "3" "121518221" "121518221" "subst" "0.000784599" "01943" "IQCB1_000028" "g.121518221A>G" "" "" "" "IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121799374A>G" "" "likely benign" "" "0000255176" "0" "30" "3" "121547418" "121547418" "subst" "0.0000853853" "01943" "IQCB1_000033" "g.121547418A>G" "" "" "" "IQCB1(NM_001023570.3):c.162T>C (p.Y54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828571A>G" "" "likely benign" "" "0000278088" "0" "10" "3" "121544883" "121544883" "subst" "0.000110599" "02330" "IQCB1_000032" "g.121544883T>C" "" "" "" "IQCB1(NM_001023570.4):c.393+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121826036T>C" "" "benign" "" "0000285318" "0" "10" "3" "121500697" "121500697" "subst" "0.0141864" "02326" "IQCB1_000014" "g.121500697G>A" "" "" "" "IQCB1(NM_001023570.3):c.1303C>T (p.R435C), IQCB1(NM_001023570.4):c.1303C>T (p.R435C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781850G>A" "" "benign" "" "0000285319" "0" "10" "3" "121516311" "121516312" "del" "0" "02326" "IQCB1_000023" "g.121516311_121516312del" "" "" "" "IQCB1(NM_001023570.4):c.767-227_767-226delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797464_121797465del" "" "benign" "" "0000285321" "0" "10" "3" "121516333" "121516334" "del" "0" "02326" "IQCB1_000025" "g.121516333_121516334del" "" "" "" "IQCB1(NM_001023570.4):c.767-260_767-259delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797486_121797487del" "" "benign" "" "0000285322" "0" "10" "3" "121516349" "121516350" "del" "0" "02326" "IQCB1_000026" "g.121516349_121516350del" "" "" "" "IQCB1(NM_001023570.4):c.767-263_767-262delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797502_121797503del" "" "benign" "" "0000285323" "0" "10" "3" "121516350" "121516350" "del" "0" "02326" "IQCB1_000027" "g.121516350del" "" "" "" "IQCB1(NM_001023570.4):c.767-262delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121797503del" "" "benign" "" "0000285324" "0" "10" "3" "121514458" "121514458" "del" "0" "02326" "IQCB1_000020" "g.121514458del" "" "" "" "IQCB1(NM_001023570.4):c.877-43delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121795611del" "" "benign" "" "0000289692" "0" "30" "3" "121508921" "121508921" "subst" "0" "01943" "IQCB1_000017" "g.121508921T>G" "" "" "" "IQCB1(NM_001023570.3):c.1128A>C (p.P376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121790074T>G" "" "likely benign" "" "0000289693" "0" "10" "3" "121500699" "121500699" "subst" "0.300325" "01943" "IQCB1_000015" "g.121500699C>T" "" "" "" "IQCB1(NM_001023570.3):c.1301G>A (p.C434Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781852C>T" "" "benign" "" "0000289694" "0" "10" "3" "121500697" "121500697" "subst" "0.0141864" "01943" "IQCB1_000014" "g.121500697G>A" "" "" "" "IQCB1(NM_001023570.3):c.1303C>T (p.R435C), IQCB1(NM_001023570.4):c.1303C>T (p.R435C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781850G>A" "" "benign" "" "0000289695" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "01943" "IQCB1_000013" "g.121500619G>A" "" "" "" "IQCB1(NM_001023570.3):c.1381C>T (p.R461*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781772G>A" "" "pathogenic" "" "0000289696" "0" "30" "3" "121491466" "121491466" "subst" "0.0000812394" "01943" "IQCB1_000012" "g.121491466C>T" "" "" "" "IQCB1(NM_001023570.3):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121772619C>T" "" "likely benign" "" "0000289697" "0" "30" "3" "121491422" "121491422" "subst" "0.00242896" "01943" "IQCB1_000011" "g.121491422T>A" "" "" "" "IQCB1(NM_001023570.3):c.1549A>T (p.N517Y), IQCB1(NM_001023570.4):c.1549A>T (p.N517Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121772575T>A" "" "likely benign" "" "0000289698" "0" "30" "3" "121491293" "121491293" "subst" "0" "01943" "IQCB1_000010" "g.121491293T>C" "" "" "" "IQCB1(NM_001023570.3):c.1567+111A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121772446T>C" "" "likely benign" "" "0000289700" "0" "50" "3" "121514423" "121514423" "subst" "0.0000692515" "01943" "IQCB1_000019" "g.121514423C>T" "" "" "" "IQCB1(NM_001023570.3):c.877-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121795576C>T" "" "VUS" "" "0000289701" "0" "10" "3" "121514472" "121514472" "dup" "0" "01943" "IQCB1_000021" "g.121514472dup" "" "" "" "IQCB1(NM_001023570.3):c.877-46dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121795625dup" "" "benign" "" "0000337052" "0" "10" "3" "121553904" "121553904" "subst" "0" "02327" "IQCB1_000043" "g.121553904A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121835057A>G" "" "benign" "" "0000339336" "0" "10" "3" "121526204" "121526204" "subst" "0.629023" "02327" "IQCB1_000039" "g.121526204G>A" "" "" "" "IQCB1(NM_001023570.3):c.574C>T (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121807357G>A" "" "benign" "" "0000342654" "0" "90" "3" "121509055" "121509055" "subst" "0" "02327" "IQCB1_000036" "g.121509055G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121790208G>A" "" "pathogenic" "" "0000342935" "0" "50" "3" "121500636" "121500636" "subst" "0.0000324979" "02327" "IQCB1_000035" "g.121500636C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781789C>T" "" "VUS" "" "0000344391" "0" "10" "3" "121500699" "121500699" "subst" "0.300325" "02327" "IQCB1_000015" "g.121500699C>T" "" "" "" "IQCB1(NM_001023570.3):c.1301G>A (p.C434Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121781852C>T" "" "benign" "" "0000350691" "0" "90" "3" "121545018" "121545018" "dup" "0" "02327" "IQCB1_000041" "g.121545018dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121826171dup" "" "pathogenic" "" "0000358269" "3" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "01243" "IQCB1_000013" "g.121500619G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000358270" "3" "90" "3" "121508941" "121508941" "dup" "0" "01243" "IQCB1_000044" "g.121508941dup" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.121790094dup" "" "pathogenic" "" "0000517498" "0" "90" "3" "121489351" "121489357" "dup" "0" "01943" "IQCB1_000034" "g.121489351_121489357dup" "" "" "" "IQCB1(NM_001023570.3):c.1632_1638dupTGTGGCA (p.A547Cfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121770504_121770510dup" "" "pathogenic" "" "0000517499" "0" "30" "3" "121489394" "121489394" "subst" "0" "01943" "IQCB1_000046" "g.121489394C>T" "" "" "" "IQCB1(NM_001023570.3):c.1595G>A (p.G532E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121770547C>T" "" "likely benign" "" "0000517500" "0" "30" "3" "121491422" "121491422" "subst" "0.00242896" "02330" "IQCB1_000011" "g.121491422T>A" "" "" "" "IQCB1(NM_001023570.3):c.1549A>T (p.N517Y), IQCB1(NM_001023570.4):c.1549A>T (p.N517Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121772575T>A" "" "likely benign" "" "0000517501" "0" "30" "3" "121491530" "121491530" "subst" "0.00108056" "02330" "IQCB1_000047" "g.121491530C>T" "" "" "" "IQCB1(NM_001023570.3):c.1441G>A (p.E481K), IQCB1(NM_001023570.4):c.1441G>A (p.E481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121772683C>T" "" "likely benign" "" "0000517502" "0" "50" "3" "121491530" "121491530" "subst" "0.00108056" "01943" "IQCB1_000047" "g.121491530C>T" "" "" "" "IQCB1(NM_001023570.3):c.1441G>A (p.E481K), IQCB1(NM_001023570.4):c.1441G>A (p.E481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121772683C>T" "" "VUS" "" "0000517503" "0" "50" "3" "121507159" "121507159" "subst" "0.0000121854" "02330" "IQCB1_000048" "g.121507159T>C" "" "" "" "IQCB1(NM_001023570.4):c.1250A>G (p.Y417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121788312T>C" "" "VUS" "" "0000517504" "0" "10" "3" "121507231" "121507231" "subst" "0.0915615" "02330" "IQCB1_000016" "g.121507231A>T" "" "" "" "IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121788384A>T" "" "benign" "" "0000517505" "0" "10" "3" "121507231" "121507231" "subst" "0.0915615" "02326" "IQCB1_000016" "g.121507231A>T" "" "" "" "IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121788384A>T" "" "benign" "" "0000517506" "0" "50" "3" "121508926" "121508926" "subst" "0.0000121917" "02330" "IQCB1_000049" "g.121508926G>T" "" "" "" "IQCB1(NM_001023570.4):c.1123C>A (p.H375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121790079G>T" "" "VUS" "" "0000517507" "0" "50" "3" "121516066" "121516066" "subst" "0.000297316" "02330" "IQCB1_000050" "g.121516066G>A" "" "" "" "IQCB1(NM_001023570.4):c.775C>T (p.R259C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121797219G>A" "" "VUS" "" "0000517508" "0" "90" "3" "121518108" "121518109" "del" "0" "02327" "IQCB1_000051" "g.121518108_121518109del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121799261_121799262del" "" "pathogenic" "" "0000517509" "0" "30" "3" "121518221" "121518221" "subst" "0.000784599" "01804" "IQCB1_000028" "g.121518221A>G" "" "" "" "IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121799374A>G" "" "likely benign" "" "0000517510" "0" "10" "3" "121526204" "121526204" "subst" "0.629023" "01943" "IQCB1_000039" "g.121526204G>A" "" "" "" "IQCB1(NM_001023570.3):c.574C>T (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121807357G>A" "" "benign" "" "0000517512" "0" "30" "3" "121527768" "121527768" "subst" "0.0000366727" "01943" "IQCB1_000053" "g.121527768T>C" "" "" "" "IQCB1(NM_001023570.3):c.482A>G (p.Q161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121808921T>C" "" "likely benign" "" "0000517513" "0" "30" "3" "121544903" "121544903" "subst" "0.00000814857" "01943" "IQCB1_000054" "g.121544903C>T" "" "" "" "IQCB1(NM_001023570.3):c.388G>A (p.A130T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121826056C>T" "" "likely benign" "" "0000517514" "0" "50" "3" "121553808" "121553808" "subst" "0" "01943" "EAF2_000001" "g.121553808G>T" "" "" "" "IQCB1(NM_001023570.3):c.-102+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121834961G>T" "" "VUS" "" "0000608225" "0" "70" "3" "121491436" "121491440" "dup" "0" "01943" "IQCB1_000055" "g.121491436_121491440dup" "" "" "" "IQCB1(NM_001023570.3):c.1532_1536dupTAGCA (p.Q513*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121772589_121772593dup" "" "likely pathogenic" "" "0000608226" "0" "30" "3" "121514299" "121514299" "subst" "0.000182967" "01943" "IQCB1_000018" "g.121514299T>G" "" "" "" "IQCB1(NM_001023570.3):c.986+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121795452T>G" "" "likely benign" "" "0000608227" "0" "50" "3" "121514386" "121514386" "subst" "0.0000162688" "01943" "IQCB1_000056" "g.121514386G>C" "" "" "" "IQCB1(NM_001023570.3):c.904C>G (p.Q302E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121795539G>C" "" "VUS" "" "0000651042" "1" "90" "3" "121516024" "121516024" "subst" "0" "03575" "IQCB1_000058" "g.121516024C>A" "18/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs794727964}" "Germline" "" "rs794727964" "0" "" "" "g.121797177C>A" "" "pathogenic" "" "0000684421" "1" "70" "3" "121527825" "121527826" "del" "0.000105873" "00004" "IQCB1_000040" "g.121527825_121527826del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.121808978_121808979del" "" "likely pathogenic (recessive)" "" "0000684438" "2" "70" "3" "121518123" "121518123" "del" "0" "00004" "IQCB1_000060" "g.121518123del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.121799276del" "" "likely pathogenic (recessive)" "" "0000684534" "1" "70" "3" "121527825" "121527826" "del" "0.000105873" "00004" "IQCB1_000040" "g.121527825_121527826del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.424_425delTT" "" "Germline" "" "" "0" "" "" "g.121808978_121808979del" "" "likely pathogenic" "" "0000684535" "1" "70" "3" "121491452" "121491453" "del" "0.0000853014" "00004" "IQCB1_000059" "g.121491452_121491453del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.1518_1519delCA" "" "Germline" "" "" "0" "" "" "g.121772605_121772606del" "" "likely pathogenic" "" "0000685257" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00004" "IQCB1_000013" "g.121500619G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685258" "0" "90" "3" "121508941" "121508941" "dup" "0" "00004" "IQCB1_000044" "g.121508941dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000713355" "0" "90" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Carss 2017:28041643}" "" "3:121509013C>A ENST00000310864.6:c.1036G>T (Glu346Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713424" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Carss 2017:28041643}" "" "3:121500619G>A ENST00000310864.6:c.1381C>T (Arg461Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713532" "0" "90" "3" "121527825" "121527826" "del" "0.000105873" "00000" "IQCB1_000040" "g.121527825_121527826del" "" "{PMID:Carss 2017:28041643}" "" "3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713735" "0" "90" "3" "121547320" "121547320" "subst" "0" "00000" "IQCB1_000063" "g.121547320A>C" "" "{PMID:Carss 2017:28041643}" "" "3:121547320A>C ENST00000310864.6:c.260T>G (Leu87Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713769" "0" "90" "3" "121507130" "121507130" "subst" "0" "00000" "IQCB1_000061" "g.121507130C>T" "" "{PMID:Carss 2017:28041643}" "" "3:121507130C>T ENST00000310864.6:c.1278+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713826" "0" "90" "3" "121547366" "121547366" "subst" "0.0000325111" "00000" "IQCB1_000064" "g.121547366G>A" "" "{PMID:Carss 2017:28041643}" "" "3:121547366G>A ENST00000310864.6:c.214C>T (Arg72Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719135" "0" "50" "3" "121491523" "121491523" "subst" "0" "01943" "IQCB1_000065" "g.121491523T>C" "" "" "" "IQCB1(NM_001023570.3):c.1448A>G (p.H483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719136" "0" "50" "3" "121514332" "121514332" "subst" "0.00000812698" "01943" "IQCB1_000066" "g.121514332C>T" "" "" "" "IQCB1(NM_001023570.3):c.958G>A (p.A320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719137" "0" "30" "3" "121516065" "121516065" "subst" "0.00043985" "01943" "IQCB1_000067" "g.121516065C>T" "" "" "" "IQCB1(NM_001023570.3):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719138" "0" "90" "3" "121547366" "121547366" "subst" "0.0000325111" "01943" "IQCB1_000064" "g.121547366G>A" "" "" "" "IQCB1(NM_001023570.3):c.214C>T (p.R72*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000731028" "0" "50" "3" "121516069" "121516069" "del" "0" "00000" "IQCB1_000071" "g.121516069del" "" "{PMID:Bryant 2018:29343940}" "" "772delA" "" "Germline" "" "" "0" "" "" "g.121797222del" "" "VUS" "" "0000731067" "0" "50" "3" "121514328" "121514328" "subst" "0.00000812658" "00000" "IQCB1_000069" "g.121514328A>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.121795481A>T" "" "VUS" "" "0000731140" "3" "90" "3" "121527857" "121527857" "subst" "0.0000040868" "00000" "IQCB1_000074" "g.121527857C>T" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731148" "3" "90" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731431" "3" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:DiIorio 2017:29053603}" "" "NM_001023571.2:c.1066C>T" "" "Germline" "" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic (recessive)" "" "0000731438" "1" "70" "3" "121527769" "121527772" "del" "0" "00000" "IQCB1_000072" "g.121527769_121527772del" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.121808922_121808925del" "" "likely pathogenic (recessive)" "" "0000731457" "2" "70" "3" "121515964" "121515964" "subst" "0" "00000" "IQCB1_000070" "g.121515964C>A" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.121797117C>A" "" "likely pathogenic (recessive)" "" "0000731586" "0" "90" "3" "121527828" "121527829" "del" "0" "01807" "IQCB1_000040" "g.121527828_121527829del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.121808981_121808982del" "" "pathogenic" "" "0000732499" "0" "90" "3" "121500607" "121500607" "subst" "0.0000568958" "00000" "IQCB1_000075" "g.121500607A>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.121781760A>G" "" "pathogenic" "" "0000733174" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Stone 2017:28559085}" "" "421_422delTT" "" "Germline" "" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000733175" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Stone 2017:28559085}" "" "421_422delTT" "" "Germline" "" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000733184" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Stone 2017:28559085}" "" "421_422delTT" "" "Germline" "" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000733185" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Stone 2017:28559085}" "" "421_422delTT" "" "Germline" "" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000733209" "1" "70" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.121790166C>A" "" "likely pathogenic" "" "0000733612" "2" "70" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.121790166C>A" "" "likely pathogenic" "" "0000733619" "2" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000733620" "2" "70" "3" "121526285" "121526285" "subst" "0.00000817956" "00000" "IQCB1_000076" "g.121526285G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.121807438G>A" "" "likely pathogenic" "" "0000733637" "2" "70" "3" "121547366" "121547366" "subst" "0.0000325111" "00000" "IQCB1_000064" "g.121547366G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.121828519G>A" "" "likely pathogenic" "" "0000735629" "0" "90" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "pathogenic" "" "0000735630" "1" "90" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.121790208G>A" "" "pathogenic" "" "0000735744" "0" "90" "3" "121514392" "121514395" "dup" "0" "00000" "IQCB1_000038" "g.121514392_121514395dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121795545_121795548dup" "" "pathogenic" "" "0000735745" "2" "90" "3" "121489351" "121489357" "dup" "0" "00000" "IQCB1_000034" "g.121489351_121489357dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.121770504_121770510dup" "" "pathogenic" "" "0000759589" "1" "90" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.121790166C>A" "" "pathogenic" "" "0000759590" "1" "90" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.121772659G>A" "" "pathogenic" "" "0000759616" "2" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.Arg489*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759617" "2" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.Glu346*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764903" "3" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00000" "IQCB1_000006" "g.121491413G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic (recessive)" "" "0000783270" "3" "90" "3" "121507125" "121507125" "subst" "0" "00000" "IQCB1_000003" "g.121507125A>T" "" "{PMID:Srilekha 2015:26147992}" "" "" "" "Germline" "" "" "0" "" "" "g.121788278A>T" "" "pathogenic (recessive)" "" "0000783795" "3" "90" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.121790208G>A" "" "pathogenic" "" "0000783796" "3" "90" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.121790112G>A" "" "pathogenic" "" "0000783881" "1" "50" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.121772659G>A" "" "VUS" "" "0000783971" "2" "50" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.121790112G>A" "" "VUS" "" "0000786421" "1" "90" "3" "121500637" "121500637" "subst" "0" "00000" "IQCB1_000005" "g.121500637G>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121781790G>A" "" "pathogenic (recessive)" "" "0000786481" "2" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Consugar 2015:25412400}" "" "659delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000790735" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Coppieters 2014:24625443}" "" "" "" "Germline" "" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000790736" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Coppieters 2014:24625443}" "" "" "" "Germline" "" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000790745" "3" "70" "3" "121507171" "121507172" "del" "0" "00000" "IQCB1_000078" "g.121507171_121507172del" "" "{PMID:Coppieters 2014:24625443}" "" "" "" "Germline" "" "" "0" "" "" "g.121788324_121788325del" "" "likely pathogenic" "" "0000791946" "0" "90" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Otto 2011:21068128}" "" "c.1090C>T" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792002" "0" "90" "3" "121507138" "121507138" "subst" "0.000182786" "00000" "IQCB1_000079" "g.121507138T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1271A/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792202" "3" "50" "3" "121500637" "121500637" "subst" "0" "00000" "IQCB1_000005" "g.121500637G>A" "" "{PMID:Chaki 2011:21422230}" "" "IQCB1:c.1363C>T" "" "Germline" "" "" "0" "" "" "" "" "unclassified" "" "0000792203" "3" "50" "3" "121507280" "121507280" "subst" "0" "00000" "IQCB1_000002" "g.121507280C>G" "" "{PMID:Chaki 2011:21422230}" "" "IQCB1:c.1130-1G>C" "" "Germline" "" "" "0" "" "" "" "" "unclassified" "" "0000794162" "3" "70" "3" "121500637" "121500637" "subst" "0" "00000" "IQCB1_000005" "g.121500637G>A" "" "{PMID:Hussain 2018:30087219}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.121781790G>A" "" "likely pathogenic" "" "0000795972" "3" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "0/384 controls" "{PMID:Chen-2013:23661368}" "" "c.[1090C>T];[1090C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795973" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "0/384 controls" "{PMID:Chen-2013:23661368}" "" "c.[994C>T];[994C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796138" "3" "90" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Verma-2013:24066033}" "" "c.1465C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000796234" "0" "90" "3" "121491452" "121491453" "del" "0.0000853014" "00000" "IQCB1_000059" "g.121491452_121491453del" "" "{PMID:Wang-2013:23847139}" "" "c.1518_1519del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796235" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Wang-2013:23847139}" "" "c.1381C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796236" "0" "90" "3" "121491452" "121491453" "del" "0.0000853014" "00000" "IQCB1_000059" "g.121491452_121491453del" "" "{PMID:Wang-2013:23847139}" "" "c.1518_1519del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796237" "0" "90" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Wang-2013:23847139}" "" "c.1465C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796238" "0" "90" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Wang-2013:23847139}" "" "c.1465C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796239" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Wang-2013:23847139}" "" "c.1381C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797578" "0" "70" "3" "121547366" "121547366" "subst" "0.0000325111" "00000" "IQCB1_000064" "g.121547366G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*)" "" "Germline" "?" "" "0" "" "" "g.121828519G>A" "" "likely pathogenic" "ACMG" "0000798022" "0" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Jespersgaar 2019:30718709}" "" "IQCB1 c.1518_1519del, p.(His506Glnfs*13)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "ACMG" "0000798023" "0" "70" "3" "121491530" "121491530" "subst" "0.00108056" "00000" "IQCB1_000047" "g.121491530C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "IQCB1 c.1441G>A, p.(Glu481Lys)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.121772683C>T" "" "likely pathogenic" "ACMG" "0000800910" "0" "30" "3" "121491422" "121491422" "subst" "0.00242896" "02326" "IQCB1_000011" "g.121491422T>A" "" "" "" "IQCB1(NM_001023570.3):c.1549A>T (p.N517Y), IQCB1(NM_001023570.4):c.1549A>T (p.N517Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800911" "0" "30" "3" "121515946" "121515946" "subst" "0" "02330" "IQCB1_000080" "g.121515946T>C" "" "" "" "IQCB1(NM_001023570.4):c.876+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812620" "3" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090G>A, p.(Arg364*)" "error in annotation: c.1090G>A instead of C>T, Homozygous" "Germline" "yes" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000812651" "0" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090G>A, p.(Arg364*)" "error in annotation: c.1090G>A instead of C>T, compound heterozygous" "Germline" "?" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000812652" "0" "90" "3" "121508976" "121508979" "del" "0" "00000" "IQCB1_000082" "g.121508976_121508979del" "" "{PMID:Wang 2019:31106028}" "" "c.1072_1075del, p.(Arg358Profs*2)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.121790129_121790132del" "" "pathogenic" "" "0000812665" "3" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090G>A, p.(Arg364*)" "error in annotation: c.1090G>A instead of C>T, Homozygous" "Germline" "yes" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000812742" "0" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090G>A, p.(Arg364*)" "error in annotation: c.1090G>A instead of C>T, compound heterozygous" "Germline" "?" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000812743" "0" "90" "3" "121507165" "121507166" "del" "0" "00000" "IQCB1_000081" "g.121507165_121507166del" "" "{PMID:Wang 2019:31106028}" "" "c.1244_1245del, p.(Ile415Argfs*3)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.121788318_121788319del" "" "pathogenic" "" "0000813660" "1" "90" "3" "121515964" "121515964" "subst" "0" "00000" "IQCB1_000083" "g.121515964C>T" "" "{PMID:Xu 2020:31630094}" "" "IQCB1 NM_001023570: g.37963G>A, c.876+1G>A" "" "Germline" "yes" "" "0" "" "" "g.121797117C>T" "" "pathogenic" "ACMG" "0000813753" "2" "90" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Xu 2020:31630094}" "" "IQCB1 NM_001023570: g.44872C>T, c.994C>T, p.R332X" "" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "pathogenic" "ACMG" "0000813882" "3" "70" "3" "121526291" "121526291" "subst" "0.00000828679" "00000" "IQCB1_000084" "g.121526291C>T" "" "{PMID:Jiman 2020:31836858}" "" "IQCB1;NM_001023570.2;c.[488-1G>A];[488-1G>A]" "homozygous" "Unknown" "?" "" "0" "" "" "g.121807444C>T" "" "likely pathogenic" "" "0000813997" "0" "50" "3" "121491530" "121491530" "subst" "0.00108056" "00000" "IQCB1_000047" "g.121491530C>T" "" "{PMID:Redin-2012:22773737}" "" "IQCB1/NPHP5:p.[E481K];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000815419" "0" "50" "3" "121518101" "121518101" "subst" "0.00000407408" "00000" "IQCB1_000085" "g.121518101C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IQCB1:NM_001023570 c.G708C, p.L236F" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.121799254C>G" "" "VUS" "ACMG" "0000815420" "0" "50" "3" "121518151" "121518151" "subst" "0.00000409802" "00000" "IQCB1_000086" "g.121518151A>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IQCB1:NM_001023570 c.T658A, p.S220T" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.121799304A>T" "" "VUS" "ACMG" "0000815523" "0" "90" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IQCB1:NM_001023570 c.1518_1519del, p.(His506Glnfs*13)" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.121772607_121772608del" "" "pathogenic" "ACMG" "0000815562" "0" "50" "3" "121491422" "121491422" "subst" "0.00242896" "00000" "IQCB1_000011" "g.121491422T>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IQCB1:NM_001023570 c.A1549T, p.N517Y" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.121772575T>A" "" "VUS" "ACMG" "0000817560" "3" "50" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Ghessari 2015:25851290}" "" "NPHP5:c.1504C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819319" "1" "70" "3" "121516015" "121516018" "del" "0" "00000" "IQCB1_000087" "g.121516015_121516018del" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.825_828del/p.R275Sfs*6, variant 2: c.1518_1519del/p.H506Nfs*13" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.121797168_121797171del" "" "likely pathogenic" "" "0000819745" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000819804" "1" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00000" "IQCB1_000006" "g.121491413G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.1558C>T/p.Q520*, variant 2: c.1558C>T/p.Q520*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic" "" "0000819805" "1" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00000" "IQCB1_000006" "g.121491413G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.1558C>T/p.Q520*, variant 2: c.1558C>T/p.Q520*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic" "" "0000819806" "1" "70" "3" "121491413" "121491413" "subst" "0.00000812374" "00000" "IQCB1_000006" "g.121491413G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.1558C>T/p.Q520*, variant 2: c.1558C>T/p.Q520*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.121772566G>A" "" "likely pathogenic" "" "0000820612" "1" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.825_828del/p.R275Sfs*6, variant 2: c.1518_1519del/p.H506Nfs*13" "error in annotation, protein change should be p.(His506Glnfs*13) and not p.(His506Asnfs*13), solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000820711" "1" "70" "3" "121516029" "121516029" "del" "0.00000406352" "00000" "IQCB1_000089" "g.121516029del" "" "{PMID:Weisschuh 2020:32531858}" "" "IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.121797182del" "" "likely pathogenic" "" "0000821279" "0" "90" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.1036G>T, p.Glu346Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121790166C>A" "" "pathogenic" "" "0000821280" "0" "70" "3" "121507130" "121507130" "subst" "0" "00000" "IQCB1_000061" "g.121507130C>T" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.1278+1G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121788283C>T" "" "likely pathogenic" "" "0000821281" "0" "70" "3" "121547366" "121547366" "subst" "0.0000325111" "00000" "IQCB1_000064" "g.121547366G>A" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.214C>T, p.Arg72Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121828519G>A" "" "likely pathogenic" "" "0000821282" "0" "70" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.1504C>T, p.Arg502Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121772620G>A" "" "likely pathogenic" "" "0000821565" "0" "70" "3" "121547320" "121547320" "subst" "0" "00000" "IQCB1_000063" "g.121547320A>C" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.260T>G, p.Leu87Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121828473A>C" "" "likely pathogenic" "" "0000821566" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.1381C>T, p.Arg461Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121781772G>A" "" "pathogenic" "" "0000821567" "0" "90" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.424_425delTT, p.Phe142ProfsTer5" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121808981_121808982del" "" "pathogenic" "" "0000821568" "0" "70" "3" "121516027" "121516027" "subst" "0.00000406388" "00000" "IQCB1_000088" "g.121516027G>A" "" "{PMID:Turro 2020:32581362}" "" "IQCB1 c.814C>T, p.Gln272Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121797180G>A" "" "likely pathogenic" "" "0000822060" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Habibi 2020:32641690}" "" "IQCB1 c.[994C > T];[994C > T], p.[R332*];[R332*]" "homozygous" "Germline" "?" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000822061" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Habibi 2020:32641690}" "" "IQCB1 c.[994C > T];[994C > T], p.[R332*];[R332*]" "homozygous" "Germline" "?" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000823362" "0" "90" "3" "121527857" "121527857" "subst" "0.0000040868" "00000" "IQCB1_000074" "g.121527857C>T" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.394-1G>A; p.?" "homozygous" "Unknown" "?" "" "0" "" "" "g.121809010C>T" "" "pathogenic" "ACMG" "0000823363" "0" "90" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.1S04C>T; p.Arg502Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.121772620G>A" "" "pathogenic" "ACMG" "0000823364" "0" "90" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.1S18_1519deICA; p.HisS06GInfsTer13" "homozygous" "Unknown" "?" "" "0" "" "" "g.121772607_121772608del" "" "pathogenic" "ACMG" "0000823365" "0" "90" "3" "121547366" "121547366" "subst" "0.0000325111" "00000" "IQCB1_000064" "g.121547366G>A" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.214C>T; p.Arg72Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121828519G>A" "" "pathogenic" "ACMG" "0000823462" "0" "90" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.1518_1519deICA; p.His506GInfsTer13" "homozygous" "Unknown" "?" "" "0" "" "" "g.121772607_121772608del" "" "pathogenic" "ACMG" "0000823501" "0" "90" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Sallum 2020:32865313}" "" "IQCB1 c.1465C>T; p.Arg489Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121772659G>A" "" "pathogenic" "ACMG" "0000827287" "3" "90" "3" "121518150" "121518151" "delins" "0" "00000" "IQCB1_000090" "g.121518150_121518151delinsC" "" "{PMID:Colombo-2020:33576794}" "" "c.658_659delinsG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000828318" "3" "90" "3" "121527805" "121527808" "del" "0" "00000" "IQCB1_000091" "g.121527805_121527808del" "" "{PMID:Shen 2021:34130719}" "" "IQCB1 c.445_448delCTCT, p.L149Sfs*30" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808958_121808961del" "" "pathogenic" "" "0000845261" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 424–425delTT, F142fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845262" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 424–425delTT, F142fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845263" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 424–425delTT, F142fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845264" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 424–425delTT, F142fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845265" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 424–425delTT, F142fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845266" "3" "70" "3" "121527805" "121527808" "del" "0" "00000" "IQCB1_000091" "g.121527805_121527808del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808958_121808961del" "" "likely pathogenic" "" "0000845267" "0" "70" "3" "121527805" "121527808" "del" "0" "00000" "IQCB1_000091" "g.121527805_121527808del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121808958_121808961del" "" "likely pathogenic" "" "0000845268" "0" "70" "3" "121516015" "121516018" "del" "0" "00000" "IQCB1_000087" "g.121516015_121516018del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 825–828delACAG, R275fsX2" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121797168_121797171del" "" "likely pathogenic" "" "0000845269" "0" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 994C-T, R332X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845270" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 994C-T, R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845271" "3" "70" "3" "121508972" "121508973" "ins" "0" "00000" "IQCB1_000095" "g.121508972_121508973insCT" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1076–1077insAG, A359fsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790125_121790126insCT" "" "likely pathogenic" "" "0000845272" "3" "70" "3" "121508972" "121508973" "ins" "0" "00000" "IQCB1_000095" "g.121508972_121508973insCT" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1076–1077insAG, A359fsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790125_121790126insCT" "" "likely pathogenic" "" "0000845273" "3" "70" "3" "121508972" "121508973" "ins" "0" "00000" "IQCB1_000095" "g.121508972_121508973insCT" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1076–1077insAG, A359fsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790125_121790126insCT" "" "likely pathogenic" "" "0000845274" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1381C-T, R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845275" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1381C-T, R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845276" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1381C-T, R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845277" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845278" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845279" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845280" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845281" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845282" "0" "70" "3" "121516015" "121516018" "del" "0" "00000" "IQCB1_000087" "g.121516015_121516018del" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) 825–828delACAG, R275fsX2" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121797168_121797171del" "" "likely pathogenic" "" "0000845283" "0" "70" "3" "121508980" "121508980" "subst" "0" "00000" "IQCB1_000097" "g.121508980G>A" "0/155" "{PMID:Otto 2005:15723066}" "" "IQCB1 (KIAA0036) C1069T, Q357X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121790133G>A" "" "likely pathogenic" "" "0000845580" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Otto 2008:18076122}" "" "NPHP5 c.424_425delTT, p.F142fsX146" "homozygous" "Unknown" "?" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845581" "3" "70" "3" "121526291" "121526291" "subst" "0.00000828679" "00000" "IQCB1_000084" "g.121526291C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP5 c.488 -1G>A, Splice site" "homozygous" "Germline" "yes" "" "0" "" "" "g.121807444C>T" "" "likely pathogenic" "" "0000845582" "3" "70" "3" "121500668" "121500668" "subst" "0.0000365571" "00000" "IQCB1_000094" "g.121500668C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP5 c.1332G>A, p.W444X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781821C>T" "" "likely pathogenic" "" "0000845583" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP5 c.1381C>T, p.R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845584" "3" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP5 c.1465C>T, p.R489X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845612" "3" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.424_425del, p.F142PfsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845613" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.424_425del, p.F142PfsX5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845614" "3" "70" "3" "121508978" "121508979" "dup" "0" "00000" "IQCB1_000096" "g.121508978_121508979dup" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1074_1075dup, p.A359EfsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790131_121790132dup" "" "likely pathogenic" "" "0000845615" "1" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.424_425del, p.F142PfsX5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845616" "1" "70" "3" "121516015" "121516018" "del" "0" "00000" "IQCB1_000087" "g.121516015_121516018del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.825_828del, p.R275SfsX6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121797168_121797171del" "" "likely pathogenic" "" "0000845617" "1" "70" "3" "121516015" "121516018" "del" "0" "00000" "IQCB1_000087" "g.121516015_121516018del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.825_828del, p.R275SfsX6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121797168_121797171del" "" "likely pathogenic" "" "0000845618" "1" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1465C>T, p.R489X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845619" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1381C>T, p.R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845620" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1381C>T, p.R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845621" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1381C>T, p.R461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845622" "3" "70" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1504A T, p.R502X" "error in annotation, c.1504 variant causing p.R502X is actually a C>T change; homozygous" "Germline" "yes" "" "0" "" "" "g.121772620G>A" "" "likely pathogenic" "" "0000845623" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1518_1519del, p.H506NfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845624" "2" "70" "3" "121491436" "121491440" "dup" "0" "00000" "IQCB1_000055" "g.121491436_121491440dup" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1535_1536insATAGC, p.Q512X" "error in annotation, heterozygous" "Germline" "yes" "" "0" "" "" "g.121772589_121772593dup" "" "likely pathogenic" "" "0000845625" "2" "70" "3" "121508980" "121508980" "subst" "0" "00000" "IQCB1_000097" "g.121508980G>A" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1069C>T, p.Q357X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121790133G>A" "" "likely pathogenic" "" "0000845626" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1518_1519del, p.H506NfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845627" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Estrada-Cuzcano 2011:20881296}" "" "IQCB1 c.1518_1519del, p.H506NfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845797" "1" "70" "3" "121544958" "121544958" "del" "0" "00000" "IQCB1_000098" "g.121544958del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.333delT, Ala111del1gcT" "error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous" "Germline" "yes" "" "0" "" "" "g.121826111del" "" "likely pathogenic" "" "0000845798" "1" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1465C>T, Arg489Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845799" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1516-1517delCA, His506del2cagCA" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845800" "1" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1381C>T, Arg461Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845801" "1" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1381C>T, Arg461Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845802" "1" "70" "3" "121500637" "121500637" "subst" "0" "00000" "IQCB1_000005" "g.121500637G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1363C>T, Arg455Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781790G>A" "" "likely pathogenic" "" "0000845803" "1" "70" "3" "121509013" "121509013" "subst" "0.00000812381" "00000" "IQCB1_000062" "g.121509013C>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1036G>T, Glu346Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121790166C>A" "" "likely pathogenic" "" "0000845804" "1" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1381C>T, Arg461Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845805" "3" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1381C>T, Arg461Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845806" "2" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1381C>T, Arg461Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845807" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1516-1517delCA, His506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845808" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1516-1517delCA, His506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845809" "2" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1465C>T, Arg489Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845810" "2" "70" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.421-422delTT, Phe141del2cacTT" "error in annotation: p.(Phe142Profs*5) and not Phe141del2cacTT; heterozygous" "Germline" "yes" "" "0" "" "" "g.121808981_121808982del" "" "likely pathogenic" "" "0000845811" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1516-1517delCA, His506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845812" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Stone 2011:21220633}" "" "IQCB1 c.1516-1517delCA, His506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845830" "1" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1465c.T, p.R489X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845831" "3" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1516_1517delCA, p.H506del2cagCA" "homozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845832" "1" "70" "3" "121491506" "121491506" "subst" "0.0000324971" "00000" "IQCB1_000068" "g.121491506G>A" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1465c.T, p.R489X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772659G>A" "" "likely pathogenic" "" "0000845833" "1" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1381c.T, p.R461X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845834" "1" "70" "3" "121544958" "121544958" "del" "0" "00000" "IQCB1_000098" "g.121544958del" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.333delT, p.A111del1gcT" "error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous" "Germline" "yes" "" "0" "" "" "g.121826111del" "" "likely pathogenic" "" "0000845841" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1516_1517delCA, p.H506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845842" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1516_1517delCA, p.H506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845843" "2" "70" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1516_1517delCA, p.H506del2cagCA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121772607_121772608del" "" "likely pathogenic" "" "0000845844" "2" "70" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Cideciyan 2011:21245082}" "" "IQCB1 c.1381c.T, p.R461X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121781772G>A" "" "likely pathogenic" "" "0000845886" "3" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Tong 2013:24674142}" "" "IQCB1 c.1090C>T (p.R364X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000845887" "3" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "" "{PMID:Tong 2013:24674142}" "" "IQCB1 c.1090C>T (p.R364X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000845888" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haghighi 2011:25984213}" "" "IQCB1 c.994C>T, p.R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845889" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haghighi 2011:25984213}" "" "IQCB1 c.994C>T, p.R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845890" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haghighi 2011:25984213}" "" "IQCB1 c.994C>T, p.R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845891" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haghighi 2011:25984213}" "" "IQCB1 c.994C>T, p.R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845892" "3" "70" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Haghighi 2011:25984213}" "" "IQCB1 c.994C>T, p.R332X" "homozygous" "Germline" "yes" "" "0" "" "" "g.121790208G>A" "" "likely pathogenic" "" "0000845934" "0" "90" "3" "121491451" "121491452" "dup" "0" "00000" "IQCB1_000093" "g.121491451_121491452dup" "" "{PMID:Kang 2016:27491411}" "" "IQCB1/NPHP5 c.1522_1523dupGA (Hom), p.Ala509Lysfs*3" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121772604_121772605dup" "" "pathogenic" "" "0000845935" "0" "90" "3" "121491451" "121491452" "dup" "0" "00000" "IQCB1_000093" "g.121491451_121491452dup" "" "{PMID:Kang 2016:27491411}" "" "IQCB1/NPHP5 c.1522_1523dupGA (Hom), p.Ala509Lysfs*3" "heterozygous" "Unknown" "?" "" "0" "" "" "g.121772604_121772605dup" "" "pathogenic" "" "0000845946" "3" "90" "3" "121491451" "121491452" "dup" "0" "00000" "IQCB1_000093" "g.121491451_121491452dup" "" "{PMID:Kang 2016:27491411}" "" "IQCB1/NPHP5 c.1522_1523dupGA (Hom), p.Ala509Lysfs*3" "homozygous" "Unknown" "?" "" "0" "" "" "g.121772604_121772605dup" "" "pathogenic" "" "0000845967" "0" "50" "3" "121507231" "121507231" "subst" "0.0915615" "00000" "IQCB1_000016" "g.121507231A>T" "" "{PMID:Fahim 2012:22183348}" "" "IQCB1 I393N p=0.044" "modifier of X-linked retinitis pigmentosa; association with more severe phenotype in RPGR patients (98 affected males tested, p value = 0.049); heterozygous" "Unknown" "?" "" "0" "" "" "g.121788384A>T" "" "VUS (!)" "" "0000845968" "0" "50" "3" "53682949" "53682949" "subst" "0" "00000" "IQCB1_000092" "g.53682949C>T" "" "{PMID:Fahim 2012:22183348}" "" "RPGRIP1L R744Q p=0.049" "modifier of X-linked retinitis pigmentosa; association with more severe phenotype in RPGR patients (98 affected males tested, p value = 0.044); heterozygous" "Unknown" "?" "" "0" "" "" "g.53649037C>T" "" "VUS (!)" "" "0000846058" "0" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 del340-371" "NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium" "In vitro (cloned)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000846059" "0" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 A547K" "NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium" "In vitro (cloned)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000846060" "0" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 del509-529" "NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium" "In vitro (cloned)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000846061" "0" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 A549K" "NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium" "In vitro (cloned)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000846062" "0" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 del543-555" "NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium" "In vitro (cloned)" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000846063" "0" "90" "3" "121527828" "121527829" "del" "0" "00000" "IQCB1_000040" "g.121527828_121527829del" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 F142fsX146" "mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases" "In vitro (cloned)" "?" "" "0" "" "" "g.121808981_121808982del" "" "pathogenic" "" "0000846064" "0" "90" "3" "121509055" "121509055" "subst" "0" "00000" "IQCB1_000036" "g.121509055G>A" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 R332X" "mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases" "In vitro (cloned)" "?" "" "0" "" "" "g.121790208G>A" "" "pathogenic" "" "0000846065" "0" "90" "3" "121500619" "121500619" "subst" "0.0000650015" "00000" "IQCB1_000013" "g.121500619G>A" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 R461X" "mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases" "In vitro (cloned)" "?" "" "0" "" "" "g.121781772G>A" "" "pathogenic" "" "0000846066" "0" "90" "3" "121491467" "121491467" "subst" "0.0000081246" "00000" "IQCB1_000073" "g.121491467G>A" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 R502X" "mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases" "In vitro (cloned)" "?" "" "0" "" "" "g.121772620G>A" "" "pathogenic" "" "0000846067" "0" "90" "3" "121491454" "121491455" "del" "0" "00000" "IQCB1_000059" "g.121491454_121491455del" "" "{PMID:Barbelanne 2013:23446637}" "" "NPHP5 H506fsX518" "mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases" "In vitro (cloned)" "?" "" "0" "" "" "g.121772607_121772608del" "" "pathogenic" "" "0000873544" "0" "70" "3" "121508959" "121508959" "subst" "0.0000487508" "00000" "IQCB1_000077" "g.121508959G>A" "174" "{PMID:Sun 2018:30076350}" "" "IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121790112G>A" "" "likely pathogenic" "" "0000873545" "0" "70" "3" "121507184" "121507184" "subst" "0" "00000" "IQCB1_000099" "g.121507184G>A" "174" "{PMID:Sun 2018:30076350}" "" "IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.121788337G>A" "" "likely pathogenic" "" "0000885493" "0" "90" "3" "121491454" "121491455" "del" "0" "02327" "IQCB1_000059" "g.121491454_121491455del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IQCB1 ## Count = 273 "{{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}}" "0000061675" "00010103" "90" "1130" "-1" "1130" "-1" "c.1130-1G>C" "r.spl?" "p.?" "11i" "0000061676" "00010103" "90" "1130" "-1" "1130" "-1" "c.1130-1G>C" "r.spl?" "p.?" "11i" "0000061677" "00010103" "90" "1479" "0" "1479" "0" "c.1479C>A" "r.(?)" "p.(Tyr493*)" "14" "0000061678" "00010103" "90" "1278" "6" "1278" "6" "c.1278+6T>A" "r.1131_1278del" "p.Gln378Alafs*2" "12i" "0000061679" "00010103" "70" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "13" "0000061680" "00010103" "70" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg445*)" "13" "0000061681" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "14" "0000061685" "00010103" "90" "1278" "6" "1278" "6" "c.1278+6T>A" "r.1131_1278del" "p.Gln378Alafs*2" "12i" "0000061686" "00010103" "70" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "13" "0000061687" "00010103" "70" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg445*)" "13" "0000061688" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "14" "0000130129" "00010103" "70" "1540" "0" "1541" "0" "c.1540_1541dup" "r.(?)" "p.(Thr516Alafs*7)" "" "0000246107" "00010103" "10" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Ser196=)" "" "0000246113" "00010103" "30" "782" "0" "782" "0" "c.782T>G" "r.(?)" "p.(Leu261Arg)" "" "0000250782" "00010103" "30" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Ser196=)" "" "0000251073" "00010103" "10" "424" "0" "424" "0" "c.424T>C" "r.(?)" "p.(Phe142Leu)" "" "0000251295" "00010103" "10" "588" "-16" "588" "-16" "c.588-16del" "r.(=)" "p.(=)" "" "0000251296" "00010103" "10" "587" "38" "587" "38" "c.587+38del" "r.(=)" "p.(=)" "" "0000251755" "00010103" "30" "782" "0" "782" "0" "c.782T>G" "r.(?)" "p.(Leu261Arg)" "" "0000253567" "00010103" "10" "1178" "0" "1178" "0" "c.1178T>A" "r.(?)" "p.(Ile393Asn)" "" "0000253765" "00010103" "10" "1568" "-19" "1568" "-19" "c.1568-19del" "r.(=)" "p.(=)" "" "0000254001" "00010103" "30" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Ser196=)" "" "0000255176" "00010103" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Tyr54=)" "" "0000278088" "00010103" "10" "393" "15" "393" "15" "c.393+15A>G" "r.(=)" "p.(=)" "" "0000285318" "00010103" "10" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Cys)" "" "0000285319" "00010103" "10" "767" "-227" "767" "-226" "c.767-227_767-226del" "r.(=)" "p.(=)" "" "0000285321" "00010103" "10" "767" "-260" "767" "-259" "c.767-260_767-259del" "r.(=)" "p.(=)" "" "0000285322" "00010103" "10" "767" "-263" "767" "-262" "c.767-263_767-262del" "r.(=)" "p.(=)" "" "0000285323" "00010103" "10" "767" "-262" "767" "-262" "c.767-262del" "r.(=)" "p.(=)" "" "0000285324" "00010103" "10" "877" "-43" "877" "-43" "c.877-43del" "r.(=)" "p.(=)" "" "0000289692" "00010103" "30" "1128" "0" "1128" "0" "c.1128A>C" "r.(?)" "p.(Pro376=)" "" "0000289693" "00010103" "10" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Cys434Tyr)" "" "0000289694" "00010103" "10" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Cys)" "" "0000289695" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Ter)" "" "0000289696" "00010103" "30" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000289697" "00010103" "30" "1549" "0" "1549" "0" "c.1549A>T" "r.(?)" "p.(Asn517Tyr)" "" "0000289698" "00010103" "30" "1567" "111" "1567" "111" "c.1567+111A>G" "r.(=)" "p.(=)" "" "0000289700" "00010103" "50" "877" "-10" "877" "-10" "c.877-10G>A" "r.(=)" "p.(=)" "" "0000289701" "00010103" "10" "877" "-46" "877" "-46" "c.877-46dup" "r.(=)" "p.(=)" "" "0000337052" "00010103" "10" "-193" "0" "-193" "0" "c.-193T>C" "r.(?)" "p.(=)" "" "0000339336" "00010103" "10" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Leu192=)" "" "0000342654" "00010103" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Ter)" "" "0000342935" "00010103" "50" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Arg455Gln)" "" "0000344391" "00010103" "10" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Cys434Tyr)" "" "0000350691" "00010103" "90" "273" "0" "273" "0" "c.273dup" "r.(?)" "p.(Val92CysfsTer15)" "" "0000358269" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "10" "0000358270" "00010103" "90" "1108" "0" "1108" "0" "c.1108dup" "r.(?)" "p.(Met370Asnfs*49)" "11" "0000517498" "00010103" "90" "1632" "0" "1638" "0" "c.1632_1638dup" "r.(?)" "p.(Ala547CysfsTer31)" "" "0000517499" "00010103" "30" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Gly532Glu)" "" "0000517500" "00010103" "30" "1549" "0" "1549" "0" "c.1549A>T" "r.(?)" "p.(Asn517Tyr)" "" "0000517501" "00010103" "30" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Glu481Lys)" "" "0000517502" "00010103" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Glu481Lys)" "" "0000517503" "00010103" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Tyr417Cys)" "" "0000517504" "00010103" "10" "1178" "0" "1178" "0" "c.1178T>A" "r.(?)" "p.(Ile393Asn)" "" "0000517505" "00010103" "10" "1178" "0" "1178" "0" "c.1178T>A" "r.(?)" "p.(Ile393Asn)" "" "0000517506" "00010103" "50" "1123" "0" "1123" "0" "c.1123C>A" "r.(?)" "p.(His375Asn)" "" "0000517507" "00010103" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Arg259Cys)" "" "0000517508" "00010103" "90" "700" "0" "701" "0" "c.700_701del" "r.(?)" "p.(Leu234ThrfsTer5)" "" "0000517509" "00010103" "30" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Ser196=)" "" "0000517510" "00010103" "10" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Leu192=)" "" "0000517512" "00010103" "30" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Gln161Arg)" "" "0000517513" "00010103" "30" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Ala130Thr)" "" "0000517514" "00010103" "50" "-102" "5" "-102" "5" "c.-102+5C>A" "r.spl?" "p.?" "" "0000608225" "00010103" "70" "1532" "0" "1536" "0" "c.1532_1536dup" "r.(?)" "p.(Gln513Ter)" "" "0000608226" "00010103" "30" "986" "5" "986" "5" "c.986+5A>C" "r.spl?" "p.?" "" "0000608227" "00010103" "50" "904" "0" "904" "0" "c.904C>G" "r.(?)" "p.(Gln302Glu)" "" "0000651042" "00010103" "90" "817" "0" "817" "0" "c.817G>T" "r.(?)" "p.(Glu273*)" "" "0000684421" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "6" "0000684438" "00010103" "70" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Thr229Metfs*8)" "8" "0000684534" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000684535" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000685257" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000685258" "00010103" "90" "1108" "0" "1108" "0" "c.1108dup" "r.(?)" "p.(Met370Asnfs*49)" "" "0000713355" "00010103" "90" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000713424" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000713532" "00010103" "90" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000713735" "00010103" "90" "260" "0" "260" "0" "c.260T>G" "r.(?)" "p.(Leu87*)" "" "0000713769" "00010103" "90" "1278" "1" "1278" "1" "c.1278+1G>A" "r.spl?" "p.?" "" "0000713826" "00010103" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000719135" "00010103" "50" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(His483Arg)" "" "0000719136" "00010103" "50" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Ala320Thr)" "" "0000719137" "00010103" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000719138" "00010103" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000731028" "00010103" "50" "772" "0" "772" "0" "c.772del" "r.(?)" "p.(Arg258Aspfs*4)" "" "0000731067" "00010103" "50" "962" "0" "962" "0" "c.962T>A" "r.(?)" "p.(Val321Glu)" "" "0000731140" "00010103" "90" "394" "-1" "394" "-1" "c.394-1G>A" "r.spl" "p.?" "" "0000731148" "00010103" "90" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "" "0000731431" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000731438" "00010103" "70" "479" "0" "482" "0" "c.479_482del" "r.(?)" "p.(Ile160Argfs*20)" "" "0000731457" "00010103" "70" "876" "1" "876" "1" "c.876+1G>T" "r.spl" "p.?" "" "0000731586" "00010103" "90" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000732499" "00010103" "90" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Tyr465His)" "" "0000733174" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000733175" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000733184" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000733185" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000733209" "00010103" "70" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000733612" "00010103" "70" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000733619" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000733620" "00010103" "70" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "" "0000733637" "00010103" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000735629" "00010103" "90" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000735630" "00010103" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000735744" "00010103" "90" "897" "0" "900" "0" "c.897_900dup" "r.(?)" "p.(Ile301Leufs*42)" "" "0000735745" "00010103" "90" "1632" "0" "1638" "0" "c.1632_1638dup" "r.(?)" "p.(Ala547Cysfs*31)" "" "0000759589" "00010103" "90" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000759590" "00010103" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000759616" "00010103" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759617" "00010103" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000764903" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520Ter)" "" "0000783270" "00010103" "90" "1278" "6" "1278" "6" "c.1278+6T>A" "r.1131_1278del" "p.Gln378Alafs*2" "12i" "0000783795" "00010103" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Ter)" "" "0000783796" "00010103" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000783881" "00010103" "50" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Ter)" "" "0000783971" "00010103" "50" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000786421" "00010103" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Ter)" "" "0000786481" "00010103" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000790735" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Ter)" "" "0000790736" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142ProfsTer5)" "" "0000790745" "00010103" "70" "1241" "0" "1242" "0" "c.1241_1242del" "r.(?)" "p.(Leu414HisfsTer4)" "" "0000791946" "00010103" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "11" "0000792002" "00010103" "90" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Gln424Arg)" "12" "0000792202" "00010103" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455*)" "13" "0000792203" "00010103" "50" "1130" "-1" "1130" "-1" "c.1130-1G>C" "r.spl?" "p.?" "11i" "0000794162" "00010103" "70" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455*)" "13" "0000795972" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "11" "0000795973" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000796138" "00010103" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "14" "0000796234" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "14" "0000796235" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "13" "0000796236" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "14" "0000796237" "00010103" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "14" "0000796238" "00010103" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "14" "0000796239" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "13" "0000797578" "00010103" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000798022" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000798023" "00010103" "70" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Glu481Lys)" "" "0000800910" "00010103" "30" "1549" "0" "1549" "0" "c.1549A>T" "r.(?)" "p.(Asn517Tyr)" "" "0000800911" "00010103" "30" "876" "19" "876" "19" "c.876+19A>G" "r.(=)" "p.(=)" "" "0000812620" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000812651" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000812652" "00010103" "90" "1072" "0" "1075" "0" "c.1072_1075del" "r.(?)" "p.(Arg358Profs*2)" "" "0000812665" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000812742" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000812743" "00010103" "90" "1244" "0" "1245" "0" "c.1244_1245del" "r.(?)" "p.(Ile415Argfs*3)" "" "0000813660" "00010103" "90" "876" "1" "876" "1" "c.876+1G>A" "r.spl" "p.(?)" "" "0000813753" "00010103" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000813882" "00010103" "70" "488" "-1" "488" "-1" "c.488-1G>A" "r.spl" "p.(?)" "" "0000813997" "00010103" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Glu481Lys)" "14" "0000815419" "00010103" "50" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Leu236Phe)" "" "0000815420" "00010103" "50" "658" "0" "658" "0" "c.658T>A" "r.(?)" "p.(Ser220Thr)" "" "0000815523" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000815562" "00010103" "50" "1549" "0" "1549" "0" "c.1549A>T" "r.(?)" "p.(Asn517Tyr)" "" "0000817560" "00010103" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "14" "0000819319" "00010103" "70" "825" "0" "828" "0" "c.825_828del" "r.(?)" "p.(Arg275Serfs*6)" "" "0000819745" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000819804" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "" "0000819805" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "" "0000819806" "00010103" "70" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "" "0000820612" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000820711" "00010103" "70" "812" "0" "812" "0" "c.812del" "r.(?)" "p.(Ser271Ilefs*11)" "" "0000821279" "00010103" "90" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000821280" "00010103" "70" "1278" "1" "1278" "1" "c.1278+1G>A" "r.spl" "p.(?)" "" "0000821281" "00010103" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000821282" "00010103" "70" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "" "0000821565" "00010103" "70" "260" "0" "260" "0" "c.260T>G" "r.(?)" "p.(Leu87*)" "" "0000821566" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000821567" "00010103" "90" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000821568" "00010103" "70" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272*)" "" "0000822060" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000822061" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000823362" "00010103" "90" "394" "-1" "394" "-1" "c.394-1G>A" "r.(?)" "p.(?)" "" "0000823363" "00010103" "90" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "" "0000823364" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000823365" "00010103" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000823462" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000823501" "00010103" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000827287" "00010103" "90" "658" "0" "659" "0" "c.658_659delinsG" "r.(?)" "p.(Ser220Glufs*7)" "8" "0000828318" "00010103" "90" "445" "0" "448" "0" "c.445_448del" "r.(?)" "p.(Leu149Serfs*31)" "" "0000845261" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142Profs*5)" "" "0000845262" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142Profs*5)" "" "0000845263" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142Profs*5)" "" "0000845264" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142Profs*5)" "" "0000845265" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142Profs*5)" "" "0000845266" "00010103" "70" "445" "0" "448" "0" "c.445_448delCTCT" "r.(?)" "p.(Leu149Serfs*31)" "" "0000845267" "00010103" "70" "445" "0" "448" "0" "c.445_448delCTCT" "r.(?)" "p.(Leu149Serfs*31)" "" "0000845268" "00010103" "70" "825" "0" "828" "0" "c.825_828delACAG" "r.(?)" "p.(Arg275Serfs*6)" "" "0000845269" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000845270" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000845271" "00010103" "70" "1076" "0" "1077" "0" "c.1076_1077insAG" "r.(?)" "p.(Met360Alafs*2)" "" "0000845272" "00010103" "70" "1076" "0" "1077" "0" "c.1076_1077insAG" "r.(?)" "p.(Met360Alafs*2)" "" "0000845273" "00010103" "70" "1076" "0" "1077" "0" "c.1076_1077insAG" "r.(?)" "p.(Met360Alafs*2)" "" "0000845274" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845275" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845276" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845277" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845278" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845279" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845280" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845281" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845282" "00010103" "70" "825" "0" "828" "0" "c.825_828delACAG" "r.(?)" "p.(Arg275Serfs*6)" "" "0000845283" "00010103" "70" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "0000845580" "00010103" "70" "424" "0" "425" "0" "c.424_425delTT" "r.(?)" "p.(Phe142ProfsTer5)" "" "0000845581" "00010103" "70" "488" "-1" "488" "-1" "c.488-1G>A" "r.spl" "p.(?)" "" "0000845582" "00010103" "70" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Trp444Ter)" "" "0000845583" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Ter)" "" "0000845584" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Ter)" "" "0000845612" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000845613" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000845614" "00010103" "70" "1074" "0" "1075" "0" "c.1074_1075dup" "r.(?)" "p.(Ala359Glufs*3)" "" "0000845615" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000845616" "00010103" "70" "825" "0" "828" "0" "c.825_828del" "r.(?)" "p.(Arg275Serfs*6)" "" "0000845617" "00010103" "70" "825" "0" "828" "0" "c.825_828del" "r.(?)" "p.(Arg275Serfs*6)" "" "0000845618" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000845619" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845620" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845621" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845622" "00010103" "70" "1504" "0" "1504" "0" "c.1504A>T" "r.(?)" "p.(Arg502*)" "" "0000845623" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845624" "00010103" "70" "1535" "0" "1536" "0" "c.1535_1536insATAGC" "r.(?)" "p.(Gln513*)" "" "0000845625" "00010103" "70" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "0000845626" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845627" "00010103" "70" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845797" "00010103" "70" "333" "0" "333" "0" "c.333delT" "r.(?)" "p.(Ala112Glnfs*5)" "" "0000845798" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000845799" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845800" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845801" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845802" "00010103" "70" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455*)" "" "0000845803" "00010103" "70" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346*)" "" "0000845804" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845805" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845806" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845807" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845808" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517del" "r.(?)" "p.(His506Glnfs*13)" "" "0000845809" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000845810" "00010103" "70" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142Profs*5)" "" "0000845811" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845812" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845830" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000845831" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845832" "00010103" "70" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489*)" "" "0000845833" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845834" "00010103" "70" "333" "0" "333" "0" "c.333delT" "r.(?)" "p.(Ala112Glnfs*5)" "" "0000845841" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845842" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845843" "00010103" "70" "1516" "0" "1517" "0" "c.1516_1517delCA" "r.(?)" "p.(His506Glnfs*13)" "" "0000845844" "00010103" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000845886" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "11" "0000845887" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "11" "0000845888" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000845889" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000845890" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000845891" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000845892" "00010103" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "11" "0000845934" "00010103" "90" "1522" "0" "1523" "0" "c.1522_1523dupGA" "r.(?)" "p.(Ala509Lysfs*3)" "" "0000845935" "00010103" "90" "1522" "0" "1523" "0" "c.1522_1523dupGA" "r.(?)" "p.(Ala509Lysfs*3)" "" "0000845946" "00010103" "90" "1522" "0" "1523" "0" "c.1522_1523dupGA" "r.(?)" "p.(Ala509Lysfs*3)" "" "0000845967" "00010103" "50" "1178" "0" "1178" "0" "c.1178T>A" "r.(?)" "p.(Ile393Asn)" "" "0000845968" "00010103" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000846058" "00010103" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn340_Leu371del)" "" "0000846059" "00010103" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ala547Lys)" "" "0000846060" "00010103" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ala509_Glu529del)" "" "0000846061" "00010103" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ala549Lys)" "" "0000846062" "00010103" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg543_Thr555del)" "" "0000846063" "00010103" "90" "424" "0" "425" "0" "c.424_425del" "r.(?)" "p.(Phe142fs*146)" "" "0000846064" "00010103" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000846065" "00010103" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000846066" "00010103" "90" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "" "0000846067" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506fs*518)" "" "0000873544" "00010103" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000873545" "00010103" "70" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Gln409*)" "" "0000885493" "00010103" "90" "1518" "0" "1519" "0" "c.1518_1519del" "r.(?)" "p.(His506Glnfs*13)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 214 "{{screeningid}}" "{{variantid}}" "0000034578" "0000061675" "0000034579" "0000061676" "0000034580" "0000061677" "0000034581" "0000061678" "0000034581" "0000061685" "0000034582" "0000061679" "0000034582" "0000061686" "0000034583" "0000061680" "0000034583" "0000061687" "0000034584" "0000061681" "0000034584" "0000061688" "0000081043" "0000130129" "0000156347" "0000358269" "0000156348" "0000358270" "0000294353" "0000651042" "0000309556" "0000684421" "0000309556" "0000684438" "0000309661" "0000684534" "0000309662" "0000684535" "0000310346" "0000685257" "0000310347" "0000685258" "0000329232" "0000713355" "0000329232" "0000713735" "0000329301" "0000713424" "0000329301" "0000713769" "0000329409" "0000713532" "0000329409" "0000713826" "0000333402" "0000731028" "0000333425" "0000731067" "0000333486" "0000731140" "0000333494" "0000731148" "0000333682" "0000731431" "0000333689" "0000731438" "0000333689" "0000731457" "0000333779" "0000731586" "0000334587" "0000732499" "0000335165" "0000733174" "0000335165" "0000733612" "0000335166" "0000733175" "0000335175" "0000733184" "0000335175" "0000733619" "0000335176" "0000733185" "0000335176" "0000733620" "0000335200" "0000733209" "0000335200" "0000733637" "0000336354" "0000735629" "0000336354" "0000735744" "0000336355" "0000735630" "0000336355" "0000735745" "0000359958" "0000759589" "0000359958" "0000759616" "0000359959" "0000759590" "0000359959" "0000759617" "0000361638" "0000783881" "0000361638" "0000783971" "0000364141" "0000764903" "0000373298" "0000783270" "0000373647" "0000783795" "0000373648" "0000783796" "0000375126" "0000786421" "0000375126" "0000786481" "0000378066" "0000790735" "0000378067" "0000790736" "0000378076" "0000790745" "0000378954" "0000791946" "0000378985" "0000792002" "0000379120" "0000792202" "0000379121" "0000792203" "0000380922" "0000794162" "0000382247" "0000795972" "0000382248" "0000795973" "0000382360" "0000796138" "0000382424" "0000796234" "0000382424" "0000796235" "0000382425" "0000796236" "0000382425" "0000796237" "0000382426" "0000796238" "0000382426" "0000796239" "0000383471" "0000797578" "0000383770" "0000798022" "0000383771" "0000798023" "0000385541" "0000812620" "0000385566" "0000812651" "0000385566" "0000812652" "0000385576" "0000812665" "0000385645" "0000812742" "0000385645" "0000812743" "0000386253" "0000813660" "0000386253" "0000813753" "0000386388" "0000813882" "0000386464" "0000813997" "0000387389" "0000815419" "0000387389" "0000815420" "0000387491" "0000815523" "0000387496" "0000815562" "0000388802" "0000817560" "0000389974" "0000819319" "0000389974" "0000820612" "0000390400" "0000819745" "0000390400" "0000820711" "0000390459" "0000819804" "0000390460" "0000819805" "0000390461" "0000819806" "0000391530" "0000821279" "0000391530" "0000821565" "0000391531" "0000821280" "0000391531" "0000821566" "0000391532" "0000821281" "0000391532" "0000821567" "0000391533" "0000821282" "0000391533" "0000821568" "0000391987" "0000822060" "0000391988" "0000822061" "0000392893" "0000823362" "0000392894" "0000823363" "0000392895" "0000823364" "0000392896" "0000823365" "0000392896" "0000823501" "0000392992" "0000823462" "0000395851" "0000827287" "0000396667" "0000828318" "0000408371" "0000845261" "0000408372" "0000845262" "0000408373" "0000845263" "0000408374" "0000845264" "0000408375" "0000845265" "0000408376" "0000845266" "0000408377" "0000845267" "0000408377" "0000845282" "0000408378" "0000845268" "0000408378" "0000845283" "0000408379" "0000845269" "0000408380" "0000845270" "0000408381" "0000845271" "0000408382" "0000845272" "0000408383" "0000845273" "0000408384" "0000845274" "0000408385" "0000845275" "0000408386" "0000845276" "0000408387" "0000845277" "0000408388" "0000845278" "0000408389" "0000845279" "0000408390" "0000845280" "0000408391" "0000845281" "0000408631" "0000845580" "0000408632" "0000845581" "0000408633" "0000845582" "0000408634" "0000845583" "0000408635" "0000845584" "0000408655" "0000845612" "0000408656" "0000845613" "0000408656" "0000845623" "0000408657" "0000845614" "0000408658" "0000845615" "0000408658" "0000845624" "0000408659" "0000845616" "0000408659" "0000845625" "0000408660" "0000845617" "0000408660" "0000845626" "0000408661" "0000845618" "0000408661" "0000845627" "0000408662" "0000845619" "0000408663" "0000845620" "0000408664" "0000845621" "0000408665" "0000845622" "0000408834" "0000845797" "0000408834" "0000845806" "0000408835" "0000845798" "0000408835" "0000845807" "0000408836" "0000845799" "0000408837" "0000845800" "0000408837" "0000845808" "0000408838" "0000845801" "0000408838" "0000845809" "0000408839" "0000845802" "0000408839" "0000845810" "0000408840" "0000845803" "0000408840" "0000845811" "0000408841" "0000845804" "0000408841" "0000845812" "0000408842" "0000845805" "0000408853" "0000845830" "0000408853" "0000845841" "0000408854" "0000845831" "0000408855" "0000845832" "0000408855" "0000845842" "0000408856" "0000845833" "0000408856" "0000845843" "0000408857" "0000845834" "0000408857" "0000845844" "0000408885" "0000845886" "0000408886" "0000845887" "0000408887" "0000845888" "0000408888" "0000845889" "0000408889" "0000845890" "0000408890" "0000845891" "0000408891" "0000845892" "0000408922" "0000845934" "0000408923" "0000845935" "0000408931" "0000845946" "0000408945" "0000845967" "0000408946" "0000845968" "0000409015" "0000846058" "0000409016" "0000846059" "0000409017" "0000846060" "0000409018" "0000846061" "0000409019" "0000846062" "0000409020" "0000846063" "0000409021" "0000846064" "0000409022" "0000846065" "0000409023" "0000846066" "0000409024" "0000846067" "0000415687" "0000873544" "0000415687" "0000873545"