### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAG) # 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}}" "SAG" "S-antigen; retina and pineal gland (arrestin)" "2" "q37.1" "unknown" "NG_009116.1" "UD_132118211075" "" "https://www.LOVD.nl/SAG" "" "1" "10521" "6295" "181031" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SAG_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2017-01-31 22:05:53" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018376" "SAG" "S-antigen; retina and pineal gland (arrestin)" "001" "NM_000541.4" "" "NP_000532.2" "" "" "" "-388" "1361" "1218" "234216309" "234255701" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "01980" "CSNBO1" "Oguchi disease 1 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-1))" "AR" "258100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03420" "RP47" "retinitis pigmentosa, type 47 (RP47)" "" "613758" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SAG" "01980" "SAG" "03420" ## Individuals ## Do not remove or alter this header ## ## Count = 108 "{{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}}" "00100119" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61324" "00144249" "" "" "" "1" "" "01780" "{PMID:Eisenberger 2014:24265693}" "" "M" "no" "Austria" "" "0" "" "" "" "" "00219399" "" "" "" "3" "" "00006" "{PMID:Olivé 2015:25801283}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "" "Spain" "" "0" "" "" "" "25801283-FamPatIII4" "00232376" "" "" "" "156" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232377" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232378" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232379" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232380" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232381" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232382" "" "" "" "486" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232383" "" "" "" "212" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233649" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233650" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233651" "" "" "" "108" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233652" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00246599" "" "" "" "2" "" "00006" "{PMID:Maw 1998:9452120}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "family" "00246600" "" "" "" "1" "" "00006" "{PMID:Nakamura 2004:15234147}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "FamAPatII1" "00246601" "" "" "" "1" "" "00006" "{PMID:Nakamura 2004:15234147}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "FamBPatII4" "00246602" "" "" "" "1" "" "00006" "{PMID:Waheed 2012:22665972}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Pakistan" "" "0" "" "" "" "" "00246603" "" "" "" "1" "" "00006" "{PMID:Sergouniotis 2011:21494281}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia, south" "" "00246604" "" "" "" "1" "" "00006" "{PMID:Fuchs 1995:7670478}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246605" "" "" "" "1" "" "00006" "{PMID:Fuchs 1995:7670478}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246606" "" "" "" "1" "" "00006" "{PMID:Fuchs 1995:7670478}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246607" "" "" "" "1" "" "00006" "{PMID:Fuchs 1995:7670478}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246608" "" "" "" "1" "" "00006" "{PMID:Fuchs 1995:7670478}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246656" "" "" "" "1" "" "00006" "{PMID:Huang 2012:22419846}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "" "00246657" "" "" "" "1" "" "00006" "{PMID:Fujinami 2011:21987685}" "2-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "" "00246658" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246659" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246660" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246661" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246662" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246663" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246664" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246665" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246666" "" "" "" "1" "" "00006" "{PMID:Saga 2004:15295660}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00246667" "" "" "" "3" "" "00006" "{PMID:Yoshii 1998:9731122}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Japan" "" "0" "" "" "" "PatIII1/2/3" "00292642" "" "" "" "69" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304799" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00333361" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat1" "00333364" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00372657" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP202" "00372690" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP190" "00372697" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP341" "00372723" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP297" "00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027" "00376531" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376532" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376533" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376534" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376791" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "58" "00376794" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "61" "00377826" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377841" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377842" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00379563" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379708" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0021" "00381000" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381235" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry mutation known cause other retinal diseases. Oguchi disease" "" "no" "" "" "0" "" "" "" "" "00381594" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00381597" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00381612" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00382603" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "466" "00383767" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070035_A" "00383938" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0736" "00383972" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1206" "00384159" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2791" "00386167" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-268" "00386204" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-159, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-324" "00386287" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-AP, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-461" "00389133" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 134, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "417" "00389463" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 289, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "747" "00389721" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 483, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1005" "00389752" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 600, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1036" "00389947" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 979, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1231" "00396626" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413701" "" "" "" "1" "" "00000" "{PMID:Hayashi 2011:21447990}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413702" "" "" "" "1" "" "00000" "{PMID:Sonoyama 2011:21922265}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413703" "" "" "" "1" "" "00000" "{PMID:Kato 2015:25744976}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413704" "" "" "" "1" "" "00000" "{PMID:Kato 2016:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413705" "" "" "" "1" "" "00000" "{PMID:Kato 2017:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413706" "" "" "" "1" "" "00000" "{PMID:Kato 2018:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413707" "" "" "" "1" "" "00000" "{PMID:Kato 2019:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413708" "" "" "" "1" "" "00000" "{PMID:Kato 2020:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413709" "" "" "" "1" "" "00000" "{PMID:Kato 2021:25744976}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413710" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413711" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413712" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413713" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413714" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413715" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413716" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413717" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413718" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413719" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413720" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413721" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00413722" "" "" "" "1" "" "00000" "{PMID:Sullivan 2017:28549094}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00413723" "" "" "" "1" "" "00000" "{PMID:Colombo 2019:30267901}" "" "M" "" "Italy" "" "0" "" "" "" "" "00413888" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "Japanese family (JU#0004)" "?" "" "Japan" "" "0" "" "" "Japanese" "family JU#0004" "00413889" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "Japanese family (JU#0077)" "?" "" "Japan" "" "0" "" "" "Japanese" "family JU#0077" "00413890" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "Japanese family (JU#0122)" "?" "" "Japan" "" "0" "" "" "Japanese" "family JU#0122" "00413891" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "Japanese family (JU#0263)" "?" "" "Japan" "" "0" "" "" "Japanese" "family JU#0263" "00436451" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "none" "Hispanic" "2481622" "00436452" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2696538" "00436453" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2725416" "00447135" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CSNB-152" "00447302" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1204" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 108 "{{individualid}}" "{{diseaseid}}" "00100119" "00381" "00144249" "04214" "00219399" "00351" "00232376" "04214" "00232377" "04214" "00232378" "04214" "00232379" "04214" "00232380" "04214" "00232381" "04214" "00232382" "04214" "00232383" "04214" "00233649" "04214" "00233650" "04214" "00233651" "04214" "00233652" "04214" "00246599" "05130" "00246600" "05130" "00246601" "05130" "00246602" "05130" "00246603" "05130" "00246604" "05130" "00246605" "05130" "00246606" "05130" "00246607" "05130" "00246608" "05130" "00246656" "05130" "00246657" "05130" "00246658" "05130" "00246659" "05130" "00246660" "05130" "00246661" "05130" "00246662" "05130" "00246663" "05130" "00246664" "05130" "00246665" "05130" "00246666" "05130" "00246667" "05130" "00292642" "00198" "00304799" "00198" "00333361" "04214" "00333364" "04214" "00372657" "04214" "00372690" "04214" "00372697" "04214" "00372723" "04214" "00375432" "04214" "00376531" "04214" "00376532" "04214" "00376533" "04214" "00376534" "04214" "00376791" "04214" "00376794" "04214" "00377826" "04214" "00377841" "04214" "00377842" "04214" "00379563" "04214" "00379708" "04214" "00381000" "04214" "00381235" "04214" "00381594" "04214" "00381597" "04214" "00381612" "04214" "00382603" "04214" "00383767" "04214" "00383938" "04214" "00383972" "04214" "00384159" "04214" "00386167" "04214" "00386204" "04214" "00386287" "04214" "00389133" "04214" "00389463" "04214" "00389721" "04214" "00389752" "04214" "00389947" "04214" "00396626" "04214" "00413701" "04214" "00413702" "04214" "00413703" "04214" "00413704" "04214" "00413705" "04214" "00413706" "04214" "00413707" "04214" "00413708" "04214" "00413709" "04214" "00413710" "04214" "00413711" "04214" "00413712" "04214" "00413713" "04214" "00413714" "04214" "00413715" "04214" "00413716" "04214" "00413717" "04214" "00413718" "04214" "00413719" "04214" "00413720" "04214" "00413721" "04214" "00413722" "04214" "00413723" "04214" "00413888" "04214" "00413889" "04214" "00413890" "04214" "00413891" "04214" "00436451" "02156" "00436452" "02156" "00436453" "02156" "00447135" "00198" "00447302" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00381, 01980, 02156, 03420, 04214, 05130 ## Count = 94 "{{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}}" "0000078356" "00381" "00100119" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117027" "04214" "00144249" "01780" "Isolated (sporadic)" "" "" "52y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000167937" "00351" "00219399" "00006" "Familial, autosomal recessive" "60y" "20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ..." "15y" "" "dyspnoea upon exertion" "" "" "" "" "" "" "protein aggregate myopathies" "" "0000186456" "05130" "00246599" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186457" "05130" "00246600" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186458" "05130" "00246601" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186459" "05130" "00246602" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186460" "05130" "00246602" "00006" "Unknown" "" "hyperhomocysteinemia, dural sinus thrombosis, thrombocytopenia, systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000186461" "05130" "00246603" "00006" "Familial, autosomal recessive" "07y" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186462" "05130" "00246604" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186463" "05130" "00246605" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186464" "05130" "00246606" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186465" "05130" "00246607" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186466" "05130" "00246608" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186503" "05130" "00246656" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186504" "05130" "00246657" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186505" "05130" "00246658" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186506" "05130" "00246659" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186507" "05130" "00246660" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186508" "05130" "00246661" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186509" "05130" "00246662" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186510" "05130" "00246663" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186511" "05130" "00246664" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186512" "05130" "00246665" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186513" "05130" "00246666" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000186514" "05130" "00246667" "00006" "Familial, autosomal recessive" "" "see paper; 1 patient with retinitis pigmentosa, 2 with Oguchi’s disease" "" "" "" "" "" "" "" "" "CSNBO-1" "congenital stationary night blindness" "" "0000251548" "04214" "00333361" "00000" "Unknown" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251551" "04214" "00333364" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267936" "04214" "00372657" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "22y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267969" "04214" "00372690" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267976" "04214" "00372697" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268002" "04214" "00372723" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271738" "04214" "00376531" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271739" "04214" "00376532" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271740" "04214" "00376533" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271741" "04214" "00376534" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000272002" "04214" "00376791" "00000" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272005" "04214" "00376794" "00000" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272972" "04214" "00377826" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000272987" "04214" "00377841" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272988" "04214" "00377842" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000273553" "04214" "00379708" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000274851" "04214" "00381000" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275086" "04214" "00381235" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275436" "04214" "00381594" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275439" "04214" "00381597" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275454" "04214" "00381612" "00000" "Isolated (sporadic)" "" "" "16y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000276452" "04214" "00382603" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277552" "04214" "00383767" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277723" "04214" "00383938" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277757" "04214" "00383972" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277944" "04214" "00384159" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000279970" "04214" "00386167" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280007" "04214" "00386204" "00000" "Familial, autosomal recessive" "38y" "" "" "24y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280090" "04214" "00386287" "00000" "Familial, autosomal dominant" "54y" "" "" "33y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal recessive retinitis pigmentosa" "" "0000282674" "04214" "00389133" "00000" "Familial, autosomal recessive" "55y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000283004" "04214" "00389463" "00000" "Familial, autosomal recessive" "56y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283262" "04214" "00389721" "00000" "Familial, autosomal recessive" "53y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283293" "04214" "00389752" "00000" "Isolated (sporadic)" "47y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283488" "04214" "00389947" "00000" "Isolated (sporadic)" "40y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000289787" "04214" "00396626" "00000" "Unknown" "24y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305666" "04214" "00413701" "00000" "Familial, autosomal recessive" "43y" "BCVA: 1.0 (OD)/ 1.5(OS); mild corneal opacity in both eyes; retinal pigment epithelium atrophy along the vascular arcade; golden-yellow discoloration in the mid-periphery" "" "" "night blindness since childhood" "" "" "" "" "" "" "Oguchi disease" "" "0000305667" "04214" "00413702" "00000" "Unknown" "" "faint golden-yellowish reflex, Mizuo-Nakamura phenomenon, relative intact photopic ERGs" "" "" "progressive decrease VA, diagnosed with RP because of night blindness, fundoscopic findings, ring scotoma, and extinguished single-flash electroretinograms." "" "" "" "" "" "Oguchi disease" "retinitis pigmentosa (RP)" "" "0000305668" "04214" "00413703" "00000" "Unknown" "19y" "RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 5y(14–19); spherical equivalent: -5.86. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 5y(14–19); spherical equivalent: -7.13" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305669" "04214" "00413704" "00000" "Unknown" "22y" "RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; reduction during follow-up 4y(18–22); spherical equivalent: -3.25. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; reduction during follow-up 4y(18–22); spherical equivalent: -2.75" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305670" "04214" "00413705" "00000" "Unknown" "18y" "RE: Clearly demarcated dark regions without tapetal-like reflex; expansion during follow-up 8y(10–18); spherical equivalent: +1.25. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion during follow-up 8y(10–18); spherical equivalent: -1.25" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305671" "04214" "00413706" "00000" "Unknown" "14y" "LE: Clearly demarcated dark regions without tapetal-like reflex; reduction during follow-up 4y(10–14); spherical equivalent: -4.50" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305672" "04214" "00413707" "00000" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305673" "04214" "00413708" "00000" "Unknown" "26y" "RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; spherical equivalent: -2.75" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305674" "04214" "00413709" "00000" "Unknown" "79y" "RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 4y(75–79); spherical equivalent: +2.50. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion during follow-up 4y(75–79); spherical equivalent: +3.50" "" "" "" "" "" "" "" "" "" "Oguchi disease" "" "0000305675" "04214" "00413710" "00000" "Familial, autosomal dominant" "40y" "BCVA: 20/25; 20/60, HVF 108, Rods nondetectable; cones reduced by" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305676" "04214" "00413711" "00000" "Familial, autosomal dominant" "54y" "BCVA: 20/40; 20/40, VF Kinetic 108, Rods nondetectable; cones reduced by , Diabetic" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305677" "04214" "00413712" "00000" "Familial, autosomal dominant" "51y" "BCVA: 20/200; 20/200, VF Kinetic 48, 85% and delayed Rods reduced >95%; cones reduced by >99%" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305678" "04214" "00413713" "00000" "Familial, autosomal dominant" "42y" "BCVA: 20/63; 20/32, HVF 258, Rods nondetectable; cones reduced by 97% and delayed" "" "" "" "" "" "" "" "" "" "Possible autosomal dominant retinitis pigmentosa (adRP)" "" "0000305679" "04214" "00413714" "00000" "Familial, autosomal dominant" "59y" "BCVA: 20/40; 20/25, HVF 108, Rods nondetectable; cones reduced by 96% and delayed" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305680" "04214" "00413715" "00000" "Familial, autosomal dominant" "45y" "BCVA: 20/32; 20/32, HVF 258, Rods nondetectable; cones reduced by 78% and delayed" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305681" "04214" "00413716" "00000" "Familial, autosomal dominant" "51y" "BCVA: 20/20; 20/25, VF Kinetic 208 with peripheral islands, Diabetic" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305682" "04214" "00413717" "00000" "Familial, autosomal dominant" "59y" "BCVA: 20/40; 20/40, VF Kinetic 208 with peripheral islands, Rods nondetectable; cones reduced by 93% and delayed, Foveal swelling OU" "" "" "" "" "" "" "" "" "" "Possible autosomal dominant retinitis pigmentosa (adRP)" "" "0000305683" "04214" "00413718" "00000" "Familial, autosomal dominant" "55y" "BCVA: 20/16; 20/20, HVF 208, Rods nondetectable; cones reduced by 62% and delayed" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305684" "04214" "00413719" "00000" "Familial, autosomal dominant" "41y" "BCVA: 20/25; 20/25, HVF 208, Rods nondetectable; cones reduced by 96% and delayed, Diabetic" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305685" "04214" "00413720" "00000" "Familial, autosomal dominant" "67y" "BCVA: 20/25; 20/20, Full with midperipheral scotoma, Rods nondetectable; cones reduced by 0.3, Diabetic" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305686" "04214" "00413721" "00000" "Familial, autosomal dominant" "63y" "BCVA: 20/200; 20/80, HVF <108," "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305687" "04214" "00413722" "00000" "Familial, autosomal dominant" "57y" "BCVA: 20/50; 20/30, Full with midperipheral, Rods nondetectable; cones moderately reduced and delayed" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000305688" "04214" "00413723" "00000" "Familial, autosomal recessive" "8y" "VA: 20/20 with a myopic refractive error of ?3 diopters in both eyes; retina was pale with a greyish green sheen under slit lamp illumination, compatible with the Mizuo-Nakamura phenomenon; hypereflective layers associated with the inner/outer segment junction and a densely packed RPE/Bruch\'s membrane complex in the parafovea" "" "" "night blindness since an early age" "" "" "" "" "" "" "Oguchi disease" "" "0000305847" "04214" "00413888" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "" "0000305848" "04214" "00413889" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "" "0000305849" "04214" "00413890" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "" "0000305850" "04214" "00413891" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "" "0000326629" "02156" "00436451" "04552" "Familial, autosomal dominant" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "RP96" "Retinitis pigmentosa" "" "0000326630" "02156" "00436452" "04552" "Familial, autosomal dominant" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "RP96" "Retinitis pigmentosa" "" "0000326631" "02156" "00436453" "04552" "Familial, autosomal dominant" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "RP96" "Retinitis pigmentosa" "" "0000336334" "00198" "00447135" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336501" "00198" "00447302" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 108 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100523" "00100119" "1" "01769" "01769" "2017-01-30 21:22:16" "" "" "SEQ" "DNA" "WBC" "" "0000145108" "00144249" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000220471" "00219399" "1" "00006" "00006" "2019-02-09 18:18:07" "00006" "2019-02-09 18:34:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "candidate gene screening and WES" "0000233475" "00232376" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233476" "00232377" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233477" "00232378" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233478" "00232379" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233479" "00232380" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233480" "00232381" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233481" "00232382" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233482" "00232383" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234748" "00233649" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234749" "00233650" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234750" "00233651" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234751" "00233652" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000247711" "00246599" "1" "00006" "00006" "2019-07-14 14:03:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000247712" "00246600" "1" "00006" "00006" "2019-07-14 14:08:33" "" "" "SEQ" "DNA" "" "" "0000247713" "00246601" "1" "00006" "00006" "2019-07-14 14:14:15" "" "" "SEQ" "DNA" "" "" "0000247714" "00246602" "1" "00006" "00006" "2019-07-14 14:18:57" "" "" "SEQ" "DNA" "" "" "0000247715" "00246603" "1" "00006" "00006" "2019-07-14 14:29:29" "" "" "SEQ" "DNA" "" "" "0000247716" "00246604" "1" "00006" "00006" "2019-07-14 14:41:56" "" "" "SEQ" "DNA" "" "" "0000247717" "00246605" "1" "00006" "00006" "2019-07-14 14:41:56" "" "" "SEQ" "DNA" "" "" "0000247718" "00246606" "1" "00006" "00006" "2019-07-14 14:41:56" "" "" "SEQ" "DNA" "" "" "0000247719" "00246607" "1" "00006" "00006" "2019-07-14 14:41:56" "" "" "SEQ" "DNA" "" "" "0000247720" "00246608" "1" "00006" "00006" "2019-07-14 14:41:56" "" "" "SEQ" "DNA" "" "" "0000247767" "00246656" "1" "00006" "00006" "2019-07-15 20:39:23" "" "" "SEQ" "DNA" "" "" "0000247768" "00246657" "1" "00006" "00006" "2019-07-15 21:03:40" "" "" "SEQ" "DNA" "" "" "0000247769" "00246658" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247770" "00246659" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247771" "00246660" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247772" "00246661" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247773" "00246662" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247774" "00246663" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247775" "00246664" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247776" "00246665" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247777" "00246666" "1" "00006" "00006" "2019-07-15 21:13:59" "" "" "SEQ" "DNA" "" "" "0000247778" "00246667" "1" "00006" "00006" "2019-07-15 21:21:45" "" "" "SEQ" "DNA" "" "" "0000293810" "00292642" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305928" "00304799" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000334586" "00333361" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334589" "00333364" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000373889" "00372657" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373922" "00372690" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373929" "00372697" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373955" "00372723" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377736" "00376531" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377737" "00376532" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377738" "00376533" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377739" "00376534" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377997" "00376791" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378000" "00376794" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000379030" "00377826" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379045" "00377841" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379046" "00377842" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000380762" "00379563" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380910" "00379708" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000382214" "00381000" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382450" "00381235" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382810" "00381594" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382813" "00381597" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382828" "00381612" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000383817" "00382603" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384992" "00383767" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385163" "00383938" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385197" "00383972" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385384" "00384159" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000387396" "00386167" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387433" "00386204" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387516" "00386287" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000390376" "00389133" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390706" "00389463" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390964" "00389721" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390995" "00389752" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000391190" "00389947" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000397869" "00396626" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414981" "00413701" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414982" "00413702" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "PCR;SEQ" "DNA" "" "" "0000414983" "00413703" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414984" "00413704" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414985" "00413705" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414986" "00413706" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414987" "00413707" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414988" "00413708" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414989" "00413709" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000414990" "00413710" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414991" "00413711" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414992" "00413712" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414993" "00413713" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414994" "00413714" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414995" "00413715" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414996" "00413716" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414997" "00413717" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414998" "00413718" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000414999" "00413719" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415000" "00413720" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415001" "00413721" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415002" "00413722" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415003" "00413723" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;PCR;SEQ" "DNA" "peripheral blood" "" "0000415168" "00413888" "1" "00000" "03840" "2022-07-25 13:47:12" "" "" "SEQ" "DNA" "blood" "" "0000415169" "00413889" "1" "00000" "03840" "2022-07-25 13:47:12" "" "" "SEQ" "DNA" "blood" "" "0000415170" "00413890" "1" "00000" "03840" "2022-07-25 13:47:12" "" "" "SEQ" "DNA" "blood" "" "0000415171" "00413891" "1" "00000" "03840" "2022-07-25 13:47:12" "" "" "SEQ" "DNA" "blood" "" "0000437935" "00436451" "1" "04552" "04552" "2023-09-17 04:10:40" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437936" "00436452" "1" "04552" "04552" "2023-09-17 04:13:04" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437937" "00436453" "1" "04552" "04552" "2023-09-17 04:15:10" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000448712" "00447135" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448879" "00447302" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 99 "{{screeningid}}" "{{geneid}}" "0000100523" "SAG" "0000145108" "EYS" "0000220471" "TRIM54" "0000220471" "TRIM63" "0000233475" "SAG" "0000233476" "SAG" "0000233477" "SAG" "0000233478" "SAG" "0000233479" "SAG" "0000233480" "SAG" "0000233481" "SAG" "0000233482" "SAG" "0000234748" "SAG" "0000234749" "SAG" "0000234750" "SAG" "0000234751" "SAG" "0000247711" "SAG" "0000247712" "SAG" "0000247713" "SAG" "0000247714" "SAG" "0000247715" "SAG" "0000247716" "SAG" "0000247717" "SAG" "0000247718" "SAG" "0000247719" "SAG" "0000247720" "SAG" "0000247767" "GRK1" "0000247767" "SAG" "0000247768" "GRK1" "0000247768" "SAG" "0000247769" "SAG" "0000247770" "SAG" "0000247771" "SAG" "0000247772" "SAG" "0000247773" "SAG" "0000247774" "SAG" "0000247775" "SAG" "0000247776" "SAG" "0000247777" "SAG" "0000247778" "SAG" "0000377736" "SAG" "0000377737" "SAG" "0000377738" "SAG" "0000377739" "SAG" "0000379030" "SAG" "0000379045" "SAG" "0000379046" "SAG" "0000380762" "SAG" "0000380910" "PCDH15" "0000382214" "SAG" "0000382450" "SAG" "0000382810" "AIPL1" "0000382813" "CRB1" "0000382828" "SAG" "0000383817" "BBS9" "0000384992" "SAG" "0000385163" "SAG" "0000385197" "SAG" "0000385384" "SAG" "0000387396" "RP1L1" "0000387433" "CDHR1" "0000387516" "ROM1" "0000390376" "SAG" "0000390706" "SAG" "0000390964" "SAG" "0000390995" "SAG" "0000391190" "SAG" "0000397869" "REEP6" "0000414981" "SAG" "0000414982" "SAG" "0000414983" "SAG" "0000414984" "SAG" "0000414985" "SAG" "0000414986" "SAG" "0000414987" "SAG" "0000414988" "SAG" "0000414989" "SAG" "0000414990" "SAG" "0000414991" "SAG" "0000414992" "SAG" "0000414993" "SAG" "0000414994" "SAG" "0000414995" "SAG" "0000414996" "SAG" "0000414997" "SAG" "0000414998" "SAG" "0000414999" "SAG" "0000415000" "SAG" "0000415001" "SAG" "0000415002" "SAG" "0000415003" "GRK1" "0000415003" "SAG" "0000415168" "SAG" "0000415169" "SAG" "0000415170" "SAG" "0000415171" "SAG" "0000437935" "SAG" "0000437936" "SAG" "0000437937" "SAG" ## 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 = 170 "{{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}}" "0000162822" "3" "90" "2" "234243675" "234243675" "subst" "4.87464E-5" "01769" "SAG_000001" "g.234243675C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.233335029C>T" "" "pathogenic" "" "0000245842" "0" "10" "2" "234237136" "234237136" "subst" "0.003021" "02330" "SAG_000016" "g.234237136A>G" "" "" "" "SAG(NM_000541.5):c.525A>G (p.R175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233328490A>G" "" "benign" "" "0000246092" "0" "50" "2" "234229274" "234229274" "subst" "0.000101763" "02330" "SAG_000006" "g.234229274A>G" "" "" "" "SAG(NM_000541.5):c.182-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320628A>G" "" "VUS" "" "0000249001" "0" "10" "2" "234227523" "234227523" "subst" "0" "02325" "SAG_000005" "g.234227523A>G" "" "" "" "SAG(NM_000541.5):c.181+82A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233318877A>G" "" "benign" "" "0000256138" "0" "50" "2" "234235842" "234235842" "subst" "0.00122758" "01943" "SAG_000015" "g.234235842A>G" "" "" "" "SAG(NM_000541.4):c.511A>G (p.K171E, p.(Lys171Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233327196A>G" "" "VUS" "" "0000295224" "0" "10" "2" "234255566" "234255566" "subst" "0" "02330" "SAG_000024" "g.234255566G>A" "" "" "" "SAG(NM_000541.5):c.*8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233346920G>A" "" "benign" "" "0000295225" "0" "10" "2" "234247410" "234247410" "subst" "0.000255964" "02330" "SAG_000020" "g.234247410C>T" "" "" "" "SAG(NM_000541.5):c.1022+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233338764C>T" "" "benign" "" "0000295226" "0" "30" "2" "234255507" "234255507" "subst" "0.000179453" "02330" "SAG_000023" "g.234255507T>A" "" "" "" "SAG(NM_000541.4):c.1167T>A (p.D389E), SAG(NM_000541.5):c.1167T>A (p.D389E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233346861T>A" "" "likely benign" "" "0000295227" "0" "10" "2" "234229325" "234229325" "subst" "0.00135423" "02330" "SAG_000007" "g.234229325C>T" "" "" "" "SAG(NM_000541.5):c.231C>T (p.D77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320679C>T" "" "benign" "" "0000295228" "0" "10" "2" "234229344" "234229344" "subst" "0.00133388" "02330" "SAG_000008" "g.234229344C>T" "" "" "" "SAG(NM_000541.5):c.250C>T (p.R84C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320698C>T" "" "benign" "" "0000295229" "0" "10" "2" "234229395" "234229395" "subst" "0.00472094" "02330" "SAG_000010" "g.234229395G>A" "" "" "" "SAG(NM_000541.4):c.301G>A (p.A101T), SAG(NM_000541.5):c.301G>A (p.A101T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320749G>A" "" "benign" "" "0000295230" "0" "50" "2" "234217866" "234217866" "subst" "0.000402361" "02330" "SAG_000002" "g.234217866G>A" "" "" "" "SAG(NM_000541.5):c.31G>A (p.E11K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233309220G>A" "" "VUS" "" "0000295231" "0" "30" "2" "234217870" "234217870" "subst" "0.000597401" "02330" "SAG_000003" "g.234217870C>T" "" "" "" "SAG(NM_000541.5):c.35C>T (p.P12L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233309224C>T" "" "likely benign" "" "0000295232" "0" "90" "2" "234229468" "234229468" "del" "5.16935E-6" "02330" "SAG_000011" "g.234229468del" "" "" "" "SAG(NM_000541.5):c.374delC (p.T125Sfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320822del" "" "pathogenic" "" "0000295233" "0" "50" "2" "234235804" "234235804" "subst" "0.000320992" "02330" "SAG_000013" "g.234235804C>A" "" "" "" "SAG(NM_000541.4):c.473C>A (p.T158K), SAG(NM_000541.5):c.473C>A (p.T158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233327158C>A" "" "VUS" "" "0000295234" "0" "10" "2" "234237199" "234237199" "subst" "0.000540567" "02330" "SAG_000017" "g.234237199G>A" "" "" "" "SAG(NM_000541.4):c.588G>A (p.A196=), SAG(NM_000541.5):c.588G>A (p.A196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233328553G>A" "" "benign" "" "0000295235" "0" "10" "2" "234240356" "234240356" "subst" "9.3736E-5" "02330" "SAG_000018" "g.234240356G>T" "" "" "" "SAG(NM_000541.4):c.804G>T (p.A268=), SAG(NM_000541.5):c.804G>T (p.A268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233331710G>T" "" "benign" "" "0000297889" "0" "10" "2" "234247508" "234247508" "subst" "0" "02325" "SAG_000021" "g.234247508C>G" "" "" "" "SAG(NM_000541.5):c.1022+109C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233338862C>G" "" "benign" "" "0000297890" "0" "10" "2" "234235749" "234235749" "subst" "0.437015" "02325" "SAG_000012" "g.234235749G>C" "" "" "" "SAG(NM_000541.5):c.436-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233327103G>C" "" "benign" "" "0000297891" "0" "10" "2" "234235820" "234235820" "subst" "0.099839" "02325" "SAG_000014" "g.234235820C>T" "" "" "" "SAG(NM_000541.5):c.489C>T (p.A163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233327174C>T" "" "benign" "" "0000307641" "0" "30" "2" "234250961" "234250961" "subst" "0.00139207" "01943" "SAG_000022" "g.234250961C>T" "" "" "" "SAG(NM_000541.4):c.1091C>T (p.P364L), SAG(NM_000541.5):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233342315C>T" "" "likely benign" "" "0000307642" "0" "30" "2" "234229394" "234229394" "subst" "2.59536E-5" "01943" "SAG_000009" "g.234229394C>T" "" "" "" "SAG(NM_000541.4):c.300C>T (p.A100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320748C>T" "" "likely benign" "" "0000307643" "0" "30" "2" "234224738" "234224738" "subst" "0.00714611" "01943" "SAG_000004" "g.234224738G>A" "" "" "" "SAG(NM_000541.4):c.93G>A (p.G31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233316092G>A" "" "likely benign" "" "0000307644" "0" "30" "2" "234247316" "234247316" "subst" "1.21858E-5" "01943" "SAG_000019" "g.234247316G>A" "" "" "" "SAG(NM_000541.4):c.945-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233338670G>A" "" "likely benign" "" "0000337566" "0" "10" "2" "234229480" "234229480" "subst" "0.0360867" "02327" "SAG_000026" "g.234229480C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320834C>T" "" "benign" "" "0000345079" "0" "50" "2" "234217866" "234217866" "subst" "0.000402361" "02327" "SAG_000002" "g.234217866G>A" "" "" "" "SAG(NM_000541.5):c.31G>A (p.E11K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233309220G>A" "" "VUS" "" "0000346800" "0" "10" "2" "234229320" "234229320" "subst" "0.0578908" "02327" "SAG_000025" "g.234229320A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233320674A>G" "" "benign" "" "0000455438" "0" "50" "2" "234229468" "234229468" "subst" "0.00243489" "00006" "SAG_000028" "g.234229468C>T" "" "{PMID:Olivé 2015:25801283}" "" "Thr125Met" "" "Germline" "" "" "0" "" "" "g.233320822C>T" "" "VUS" "" "0000476183" "0" "10" "2" "234229320" "234229320" "subst" "0.0578908" "02591" "SAG_000025" "g.234229320A>G" "156/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs7565275" "0" "" "" "g.233320674A>G" "" "benign" "" "0000476184" "0" "50" "2" "234229332" "234229332" "subst" "0" "02591" "SAG_000029" "g.234229332G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.233320686G>T" "" "VUS" "" "0000476185" "0" "50" "2" "234229348" "234229348" "subst" "0" "02591" "SAG_000030" "g.234229348G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.233320702G>C" "" "VUS" "" "0000476186" "0" "50" "2" "234235768" "234235768" "subst" "0" "02591" "SAG_000031" "g.234235768C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.233327122C>A" "" "VUS" "" "0000476187" "0" "90" "2" "234243724" "234243724" "del" "0" "02591" "SAG_000032" "g.234243724del" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754158163" "0" "" "" "g.233335078del" "" "pathogenic" "" "0000476188" "0" "50" "2" "234247342" "234247342" "subst" "1.62455E-5" "02591" "SAG_000033" "g.234247342G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs776736329" "0" "" "" "g.233338696G>A" "" "VUS" "" "0000476189" "0" "10" "2" "234255547" "234255547" "subst" "0.366565" "02591" "SAG_000034" "g.234255547G>A" "486/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1046974" "0" "" "" "g.233346901G>A" "" "benign" "" "0000476190" "0" "10" "2" "234255548" "234255548" "subst" "0.0933849" "02591" "SAG_000035" "g.234255548T>C" "212/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1046976" "0" "" "" "g.233346902T>C" "" "benign" "" "0000477456" "3" "10" "2" "234229320" "234229320" "subst" "0.0578908" "02591" "SAG_000025" "g.234229320A>G" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs7565275" "0" "" "" "g.233320674A>G" "" "benign" "" "0000477457" "3" "90" "2" "234243724" "234243724" "del" "0" "02591" "SAG_000032" "g.234243724del" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754158163" "0" "" "" "g.233335078del" "" "pathogenic" "" "0000477458" "3" "10" "2" "234255547" "234255547" "subst" "0.366565" "02591" "SAG_000034" "g.234255547G>A" "108/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1046974" "0" "" "" "g.233346901G>A" "" "benign" "" "0000477459" "3" "10" "2" "234255548" "234255548" "subst" "0.0933849" "02591" "SAG_000035" "g.234255548T>C" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1046976" "0" "" "" "g.233346902T>C" "" "benign" "" "0000500580" "3" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00006" "SAG_000036" "g.234237188C>T" "" "{PMID:Maw 1998:09452120}" "" "" "" "Germline" "yes" "rs201153410" "0" "" "" "g.233328542C>T" "" "pathogenic (recessive)" "" "0000500581" "11" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Nakamura 2004:15234147}" "" "926delA" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500582" "21" "90" "2" "234237134" "234237134" "subst" "8.14823E-6" "00006" "SAG_000037" "g.234237134C>T" "" "{PMID:Nakamura 2004:15234147}" "" "744C>T (Arg175*)" "" "Germline" "" "" "0" "" "" "g.233328488C>T" "" "pathogenic (recessive)" "" "0000500583" "3" "90" "2" "234243675" "234243675" "subst" "4.87464E-5" "00006" "SAG_000001" "g.234243675C>T" "" "{PMID:Nakamura 2004:15234147}" "" "1195C>T" "" "Germline" "" "" "0" "" "" "g.233335029C>T" "" "pathogenic (recessive)" "" "0000500584" "3" "90" "2" "234243717" "234243717" "subst" "4.06534E-6" "00006" "SAG_000038" "g.234243717G>T" "" "{PMID:Waheed 2012:22665972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.233335071G>T" "" "pathogenic (recessive)" "" "0000500586" "3" "90" "2" "234243675" "234243675" "subst" "4.87464E-5" "00006" "SAG_000001" "g.234243675C>T" "" "{PMID:Sergouniotis 2011:21494281}" "" "" "" "Germline" "" "" "0" "" "" "g.233335029C>T" "" "pathogenic (recessive)" "" "0000500587" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fuchs 1995:07670478}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500588" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fuchs 1995:07670478}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500589" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fuchs 1995:07670478}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500590" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fuchs 1995:07670478}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500591" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fuchs 1995:07670478}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500646" "21" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00006" "SAG_000036" "g.234237188C>T" "" "{PMID:Huang 2012:22419846}" "" "" "" "Germline" "" "" "0" "" "" "g.233328542C>T" "" "pathogenic (recessive)" "" "0000500647" "21" "10" "2" "234235749" "234235749" "subst" "0.437015" "00006" "SAG_000012" "g.234235749G>C" "" "{PMID:Huang 2012:22419846}" "" "IVS6-18G>C" "" "Germline" "" "" "0" "" "" "g.233327103G>C" "" "benign" "" "0000500648" "3" "10" "2" "234238254" "234238254" "subst" "0.69998" "00006" "SAG_000039" "g.234238254T>G" "" "{PMID:Huang 2012:22419846}" "" "IVS9+31T>G" "" "Germline" "" "" "0" "" "" "g.233329608T>G" "" "benign" "" "0000500649" "21" "10" "2" "234255547" "234255547" "subst" "0.366565" "00006" "SAG_000034" "g.234255547G>A" "" "{PMID:Huang 2012:22419846}" "" "(V430I)" "" "Germline" "" "" "0" "" "" "g.233346901G>A" "" "benign" "" "0000500650" "11" "90" "2" "234217811" "234221034" "del" "0" "00006" "SAG_000040" "g.234217811_234221034del" "" "{PMID:Huang 2012:22419846}" "" "" "" "Germline" "" "" "0" "" "" "g.233309165_233312388del" "" "pathogenic (recessive)" "" "0000500651" "0" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Fujinami 2011:21987685}" "" "1147delA" "variant on other allel not excluded" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic" "" "0000500652" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500653" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500654" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500655" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500656" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500657" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500658" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500659" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500660" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Saga 2004:15295660}" "" "1147Adel" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000500661" "3" "90" "2" "234243727" "234243727" "del" "0" "00006" "SAG_000027" "g.234243727del" "" "{PMID:Yoshii 1998:09731122}" "" "1147de1A" "" "Germline" "yes" "" "0" "" "" "g.233335081del" "" "pathogenic (recessive)" "" "0000515145" "0" "50" "2" "234217804" "234217811" "del" "8.22856E-6" "01943" "SAG_000041" "g.234217804_234217811del" "" "" "" "SAG(NM_000541.4):c.-28-4_-25delCAAGGTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233309158_233309165del" "" "VUS" "" "0000515146" "0" "10" "2" "234229395" "234229395" "subst" "0.00472094" "01943" "SAG_000010" "g.234229395G>A" "" "" "" "SAG(NM_000541.4):c.301G>A (p.A101T), SAG(NM_000541.5):c.301G>A (p.A101T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233320749G>A" "" "benign" "" "0000515147" "0" "30" "2" "234229468" "234229468" "subst" "0.00243489" "02330" "SAG_000028" "g.234229468C>T" "" "" "" "SAG(NM_000541.4):c.374C>T (p.T125M), SAG(NM_000541.5):c.374C>T (p.T125M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233320822C>T" "" "likely benign" "" "0000515148" "0" "50" "2" "234231595" "234231595" "subst" "0" "02327" "SAG_000042" "g.234231595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233322949C>T" "" "VUS" "" "0000515149" "0" "50" "2" "234235804" "234235804" "subst" "0.000320992" "01943" "SAG_000013" "g.234235804C>A" "" "" "" "SAG(NM_000541.4):c.473C>A (p.T158K), SAG(NM_000541.5):c.473C>A (p.T158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233327158C>A" "" "VUS" "" "0000515150" "0" "30" "2" "234235842" "234235842" "subst" "0.00122758" "01804" "SAG_000015" "g.234235842A>G" "" "" "" "SAG(NM_000541.4):c.511A>G (p.K171E, p.(Lys171Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233327196A>G" "" "likely benign" "" "0000515151" "0" "30" "2" "234237199" "234237199" "subst" "0.000540567" "01943" "SAG_000017" "g.234237199G>A" "" "" "" "SAG(NM_000541.4):c.588G>A (p.A196=), SAG(NM_000541.5):c.588G>A (p.A196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233328553G>A" "" "likely benign" "" "0000515152" "0" "50" "2" "234243717" "234243717" "subst" "1.2196E-5" "01804" "SAG_000043" "g.234243717G>A" "" "" "" "SAG(NM_000541.4):c.916G>A (p.(Glu306Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233335071G>A" "" "VUS" "" "0000515153" "0" "30" "2" "234247313" "234247313" "subst" "4.87428E-5" "01943" "SAG_000044" "g.234247313T>C" "" "" "" "SAG(NM_000541.4):c.945-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233338667T>C" "" "likely benign" "" "0000515154" "0" "10" "2" "234250961" "234250961" "subst" "0.00139207" "02330" "SAG_000022" "g.234250961C>T" "" "" "" "SAG(NM_000541.4):c.1091C>T (p.P364L), SAG(NM_000541.5):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233342315C>T" "" "benign" "" "0000620989" "0" "30" "2" "234240268" "234240268" "subst" "0.00249325" "02330" "SAG_000045" "g.234240268C>A" "" "" "" "SAG(NM_000541.5):c.734-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233331622C>A" "" "likely benign" "" "0000650499" "1" "30" "2" "234229295" "234229295" "subst" "0.022857" "03575" "SAG_000046" "g.234229295C>T" "69/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "69 heterozygous; {DB:CLININrs72976383}" "Germline" "" "rs72976383" "0" "" "" "g.233320649C>T" "" "likely benign" "" "0000669616" "3" "30" "2" "234229295" "234229295" "subst" "0.022857" "03575" "SAG_000046" "g.234229295C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs72976383}" "Germline" "" "rs72976383" "0" "" "" "g.233320649C>T" "" "likely benign" "" "0000676558" "0" "30" "2" "234231636" "234231636" "subst" "0.000347902" "01943" "SAG_000047" "g.234231636A>G" "" "" "" "SAG(NM_000541.4):c.420A>G (p.P140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676559" "0" "30" "2" "234240356" "234240356" "subst" "9.3736E-5" "01943" "SAG_000018" "g.234240356G>T" "" "" "" "SAG(NM_000541.4):c.804G>T (p.A268=), SAG(NM_000541.5):c.804G>T (p.A268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688700" "0" "50" "2" "234229306" "234229306" "subst" "0" "01943" "SAG_000048" "g.234229306A>C" "" "" "" "SAG(NM_000541.4):c.212A>C (p.Y71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688701" "0" "50" "2" "234243667" "234243667" "subst" "0" "01943" "SAG_000049" "g.234243667C>G" "" "" "" "SAG(NM_000541.4):c.866C>G (p.A289G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688702" "0" "30" "2" "234255507" "234255507" "subst" "0.000179453" "01943" "SAG_000023" "g.234255507T>A" "" "" "" "SAG(NM_000541.4):c.1167T>A (p.D389E), SAG(NM_000541.5):c.1167T>A (p.D389E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718624" "0" "30" "2" "234240330" "234240330" "subst" "4.06428E-6" "01943" "SAG_000050" "g.234240330G>A" "" "" "" "SAG(NM_000541.4):c.778G>A (p.V260I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718625" "0" "50" "2" "234240339" "234240339" "subst" "1.2196E-5" "02327" "SAG_000051" "g.234240339G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718626" "0" "30" "2" "234243663" "234243663" "subst" "4.0622E-5" "01943" "SAG_000052" "g.234243663C>T" "" "" "" "SAG(NM_000541.4):c.862C>T (p.L288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732498" "0" "90" "2" "234235804" "234235804" "subst" "0.000320992" "00000" "SAG_000013" "g.234235804C>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.233327158C>A" "" "pathogenic" "" "0000732508" "0" "90" "2" "234229365" "234229365" "subst" "8.28688E-5" "00000" "SAG_000053" "g.234229365C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.233320719C>T" "" "pathogenic" "" "0000784268" "0" "70" "2" "234235773" "234235773" "subst" "0" "00000" "SAG_000055" "g.234235773G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.233327127G>A" "" "likely pathogenic (recessive)" "" "0000784367" "0" "70" "2" "234224752" "234224752" "subst" "2.60444E-5" "00000" "SAG_000054" "g.234224752T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs188789430" "0" "" "" "g.233316106T>C" "" "likely pathogenic (recessive)" "" "0000784441" "0" "50" "2" "234243748" "234243748" "subst" "0" "00000" "SAG_000057" "g.234243748G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.233335102G>A" "" "VUS" "" "0000784540" "0" "50" "2" "234237235" "234237235" "subst" "3.66946E-5" "00000" "SAG_000056" "g.234237235C>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs183412440" "0" "" "" "g.233328589C>A" "" "VUS" "" "0000788495" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Katagiri 2014:25268133}" "" "924delA" "" "Germline" "" "" "0" "" "" "g.233335081del" "" "likely pathogenic" "" "0000790161" "0" "50" "2" "234237134" "234237134" "subst" "8.14823E-6" "00000" "SAG_000037" "g.234237134C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790162" "0" "50" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790163" "0" "50" "2" "234243675" "234243675" "subst" "4.87464E-5" "00000" "SAG_000001" "g.234243675C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790164" "0" "50" "2" "234243726" "234243726" "del" "0" "00000" "SAG_000027" "g.234243726delA" "" "{PMID:Zeitz-2009:19578023}" "" "c.925delA (p.Asn309ThfsX12)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790447" "0" "50" "2" "234229395" "234229395" "subst" "0.00472094" "00000" "SAG_000010" "g.234229395G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs141521563" "0" "" "" "g.233320749G>A" "" "VUS" "" "0000790637" "0" "50" "2" "234229468" "234229468" "subst" "0.00243489" "00000" "SAG_000028" "g.234229468C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs137886124" "0" "" "" "g.233320822C>T" "" "VUS" "" "0000792064" "3" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.577C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792065" "3" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.577C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792091" "3" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.577C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792092" "3" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.577C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793954" "3" "70" "2" "234243675" "234243675" "subst" "4.87464E-5" "00000" "SAG_000001" "g.234243675C>T" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.[874C>T]+[874C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794143" "0" "70" "10" "55973730" "55973731" "del" "0" "00000" "SAG_000001" "g.55973730_55973731del" "" "{PMID:Wan 2018:30245926}" "" "different transcript: NM_001142763.1(PCDH15):c.1081_1082delGA; p.Asp361Leufs" "Ocular disease gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.54213970_54213971del" "" "likely pathogenic" "" "0000795929" "0" "50" "2" "234217866" "234217866" "subst" "0.000402361" "00000" "SAG_000002" "g.234217866G>A" "" "{PMID:Schorderet-2013:23484092}" "" "p.SAG-E11K" "" "Unknown" "no" "" "0" "" "" "" "" "VUS" "" "0000796274" "3" "90" "2" "234243675" "234243675" "subst" "4.87464E-5" "00000" "SAG_000001" "g.234243675C>T" "" "{PMID:Wang-2013:23847139}" "" "c.874C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796667" "0" "70" "2" "234229468" "234229468" "subst" "0.00243489" "00000" "SAG_000028" "g.234229468C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.374C>T" "" "Germline" "" "rs137886124" "0" "" "" "" "" "likely pathogenic" "" "0000796672" "0" "70" "2" "234229468" "234229468" "subst" "0.00243489" "00000" "SAG_000028" "g.234229468C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.374C>T" "" "Germline" "" "rs137886124" "0" "" "" "" "" "likely pathogenic" "" "0000796677" "0" "70" "2" "234235804" "234235804" "subst" "0.000320992" "00000" "SAG_000013" "g.234235804C>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.473C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796704" "0" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.577C>T" "Unknown 2nd allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798085" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "SAG c.(512+1_513-1) _(806+1_807-1)del, BBS9 c.1277_1280del, p.(Gln426Argfs*16)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000800485" "0" "50" "2" "234229468" "234229468" "subst" "0.00243489" "01943" "SAG_000028" "g.234229468C>T" "" "" "" "SAG(NM_000541.4):c.374C>T (p.T125M), SAG(NM_000541.5):c.374C>T (p.T125M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800486" "0" "30" "2" "234238171" "234238171" "subst" "0.000572882" "02330" "SAG_000058" "g.234238171C>T" "" "" "" "SAG(NM_000541.5):c.681C>T (p.T227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811833" "0" "70" "1" "234237188" "234237188" "subst" "0" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Gao 2019:31054281}" "" "c.577C>T, p.Arg193Ter" "heterozygous" "Germline" "?" "" "0" "" "" "g.233328542C>T" "" "likely pathogenic" "" "0000812057" "3" "70" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.233328542C>T" "" "likely pathogenic" "" "0000812111" "3" "70" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.233328542C>T" "" "likely pathogenic" "" "0000812418" "3" "70" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.233328542C>T" "" "likely pathogenic" "" "0000815442" "0" "50" "2" "234243675" "234243675" "subst" "5.68708E-5" "00000" "SAG_000061" "g.234243675C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SAG:NM_000541 c.C874G, p.R292G" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.233335029C>G" "" "VUS" "ACMG" "0000815469" "0" "50" "2" "234217909" "234217909" "subst" "0.00019526" "00000" "SAG_000059" "g.234217909C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SAG:NM_000541 c.C74T, p.S25L" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.233309263C>T" "" "VUS" "ACMG" "0000815573" "0" "50" "2" "234237159" "234237159" "subst" "0" "00000" "SAG_000060" "g.234237159A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SAG:NM_000541 c.A548G, p.H183R" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.233328513A>G" "" "VUS" "ACMG" "0000819721" "1" "70" "2" "234237188" "234237188" "subst" "0.000134109" "00000" "SAG_000036" "g.234237188C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.577C>T/p.R193* , variant 2: c.577C>T/p.R193*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.233328542C>T" "" "likely pathogenic" "" "0000820051" "1" "70" "2" "234255047" "234255047" "subst" "4.87353E-5" "00000" "SAG_000066" "g.234255047A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.1103-2A>C/p.?, variant 2: c.1103-2A>C/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.233346401A>C" "" "likely pathogenic" "" "0000820309" "1" "70" "2" "234217910" "234217910" "subst" "0" "00000" "SAG_000062" "g.234217910G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.75G>A/p.?, variant 2: c.75G>A/p.?" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.233309264G>A" "" "likely pathogenic" "" "0000820340" "1" "70" "2" "234238172" "234238172" "subst" "7.31356E-5" "00000" "SAG_000064" "g.234238172G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.682G>A/p.V228M, variant 2 :Duplication exon 15-16" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.233329526G>A" "" "likely pathogenic" "" "0000820535" "1" "70" "2" "234224783" "234224783" "subst" "0" "00000" "SAG_000063" "g.234224783T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.136+2T>G/p.?, variant 2: c.806+4A>G/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.233316137T>G" "" "likely pathogenic" "" "0000820869" "1" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.682G>A/p.V228M, variant 2 :Duplication exon 15-16" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820961" "1" "70" "2" "234240362" "234240362" "subst" "0" "00000" "SAG_000065" "g.234240362A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "SAG, variant 1: c.136+2T>G/p.?, variant 2: c.806+4A>G/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.233331716A>G" "" "likely pathogenic" "" "0000829931" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Numa-2020:33247286}" "" "c.924delA:p.T308fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000849797" "0" "90" "2" "234237188" "234237188" "subst" "0.000134109" "01943" "SAG_000036" "g.234237188C>T" "" "" "" "SAG(NM_000541.4):c.577C>T (p.R193*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000872704" "3" "90" "2" "234255487" "234255487" "del" "0" "00000" "SAG_000069" "g.234255487del" "" "{PMID:Hayashi 2011:21447990}" "" "1147delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872705" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Sonoyama 2011:21922265}" "" "c.926delA (N309TfX320)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872706" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2015:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872707" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2016:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872708" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2017:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872709" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2018:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872710" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2019:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872711" "3" "90" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2020:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872712" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Kato 2021:25744976}" "" "c.926delA" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872713" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872714" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872715" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872716" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872717" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872718" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872719" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872720" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872721" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872722" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872723" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872724" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872725" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "00000" "SAG_000068" "g.234235771G>T" "" "{PMID:Sullivan 2017:28549094}" "" "c.440G>T; p.Cys147Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872726" "3" "90" "2" "234231614" "234231614" "subst" "0" "00000" "SAG_000067" "g.234231614C>T" "" "{PMID:Colombo 2019:30267901}" "" "c.398C>T: p. (Ser133Leu)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872922" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Hayashi 2007:17070587}" "" "SAG 1147delA, c.924delA, p.N309fsX320" "homozygous, c.924delA automapped to NM_000541.4:c.926delA" "Germline" "yes" "" "0" "" "" "g.233335081del" "" "likely pathogenic (recessive)" "" "0000872923" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Hayashi 2007:17070587}" "" "SAG 1147delA, c.924delA, p.N309fsX320" "homozygous, c.924delA automapped to NM_000541.4:c.926delA" "Germline" "yes" "" "0" "" "" "g.233335081del" "" "likely pathogenic (recessive)" "" "0000872924" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Hayashi 2007:17070587}" "" "SAG 1147delA, c.924delA, p.N309fsX320" "homozygous, c.924delA automapped to NM_000541.4:c.926delA" "Germline" "yes" "" "0" "" "" "g.233335081del" "" "likely pathogenic (recessive)" "" "0000872925" "3" "70" "2" "234243727" "234243727" "del" "0" "00000" "SAG_000027" "g.234243727del" "" "{PMID:Hayashi 2007:17070587}" "" "SAG 1147delA, c.924delA, p.N309fsX320" "homozygous, c.924delA automapped to NM_000541.4:c.926delA" "Germline" "yes" "" "0" "" "" "g.233335081del" "" "likely pathogenic (recessive)" "" "0000885022" "0" "50" "2" "234243750" "234243750" "subst" "0.000126628" "02330" "SAG_000070" "g.234243750G>A" "" "" "" "SAG(NM_000541.5):c.944+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928563" "0" "30" "2" "234235799" "234235799" "subst" "6.50126E-5" "02330" "SAG_000071" "g.234235799C>T" "" "" "" "SAG(NM_000541.5):c.468C>T (p.F156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933401" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "04552" "SAG_000068" "g.234235771G>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs753107507" "0" "" "" "" "{CV:862338}" "pathogenic" "ACMG" "0000933402" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "04552" "SAG_000068" "g.234235771G>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs753107507" "0" "" "" "" "{CV:1391715}" "pathogenic" "ACMG" "0000933403" "0" "90" "2" "234235771" "234235771" "subst" "1.21924E-5" "04552" "SAG_000068" "g.234235771G>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs753107507" "0" "" "" "" "{CV:3353}" "pathogenic" "ACMG" "0000958198" "0" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00006" "SAG_000036" "g.234237188C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.233328542C>T" "" "pathogenic (recessive)" "ACMG" "0000958543" "0" "70" "2" "234240362" "234240362" "subst" "0" "00006" "SAG_000065" "g.234240362A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.233331716A>G" "" "likely pathogenic (recessive)" "ACMG" "0000958653" "0" "90" "2" "234237188" "234237188" "subst" "0.000134109" "00006" "SAG_000036" "g.234237188C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.233328542C>T" "" "pathogenic (recessive)" "ACMG" "0000961970" "0" "30" "2" "234229451" "234229451" "subst" "4.17948E-5" "02330" "SAG_000072" "g.234229451G>A" "" "" "" "SAG(NM_000541.5):c.357G>A (p.T119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961971" "0" "30" "2" "234255077" "234255077" "subst" "0.0006376" "02330" "SAG_000073" "g.234255077T>C" "" "" "" "SAG(NM_000541.5):c.1112+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033119" "0" "50" "2" "234227440" "234227440" "subst" "4.06174E-5" "01804" "SAG_000074" "g.234227440A>G" "" "" "" "SAG(NM_000541.5):c.180A>G (p.(Lys60=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SAG ## Count = 170 "{{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}}" "0000162822" "00018376" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000245842" "00018376" "10" "525" "0" "525" "0" "c.525A>G" "r.(?)" "p.(Arg175=)" "" "0000246092" "00018376" "50" "182" "-2" "182" "-2" "c.182-2A>G" "r.spl?" "p.?" "" "0000249001" "00018376" "10" "181" "82" "181" "82" "c.181+82A>G" "r.(=)" "p.(=)" "" "0000256138" "00018376" "50" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Lys171Glu)" "" "0000295224" "00018376" "10" "1226" "0" "1226" "0" "c.*8G>A" "r.(=)" "p.(=)" "" "0000295225" "00018376" "10" "1022" "11" "1022" "11" "c.1022+11C>T" "r.(=)" "p.(=)" "" "0000295226" "00018376" "30" "1167" "0" "1167" "0" "c.1167T>A" "r.(?)" "p.(Asp389Glu)" "" "0000295227" "00018376" "10" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Asp77=)" "" "0000295228" "00018376" "10" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000295229" "00018376" "10" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Ala101Thr)" "" "0000295230" "00018376" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Glu11Lys)" "" "0000295231" "00018376" "30" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Pro12Leu)" "" "0000295232" "00018376" "90" "374" "0" "374" "0" "c.374del" "r.(?)" "p.(Thr125SerfsTer10)" "" "0000295233" "00018376" "50" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Thr158Lys)" "" "0000295234" "00018376" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Ala196=)" "" "0000295235" "00018376" "10" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Ala268=)" "" "0000297889" "00018376" "10" "1022" "109" "1022" "109" "c.1022+109C>G" "r.(=)" "p.(=)" "" "0000297890" "00018376" "10" "436" "-18" "436" "-18" "c.436-18G>C" "r.(=)" "p.(=)" "" "0000297891" "00018376" "10" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Ala163=)" "" "0000307641" "00018376" "30" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "0000307642" "00018376" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ala100=)" "" "0000307643" "00018376" "30" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Gly31=)" "" "0000307644" "00018376" "30" "945" "-6" "945" "-6" "c.945-6G>A" "r.(=)" "p.(=)" "" "0000337566" "00018376" "10" "375" "11" "375" "11" "c.375+11C>T" "r.(=)" "p.(=)" "" "0000345079" "00018376" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Glu11Lys)" "" "0000346800" "00018376" "10" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000455438" "00018376" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000476183" "00018376" "10" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000476184" "00018376" "50" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Gly80Cys)" "" "0000476185" "00018376" "50" "254" "0" "254" "0" "c.254G>C" "r.(?)" "p.(Arg85Thr)" "" "0000476186" "00018376" "50" "437" "0" "437" "0" "c.437C>A" "r.(?)" "p.(Ser146Tyr)" "" "0000476187" "00018376" "90" "923" "0" "923" "0" "c.923del" "r.(?)" "p.(Thr308Lysfs*13)" "" "0000476188" "00018376" "50" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "" "0000476189" "00018376" "10" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Ile)" "" "0000476190" "00018376" "10" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Val403Ala)" "" "0000477456" "00018376" "10" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000477457" "00018376" "90" "923" "0" "923" "0" "c.923del" "r.(?)" "p.(Thr308Lysfs*13)" "" "0000477458" "00018376" "10" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Ile)" "" "0000477459" "00018376" "10" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Val403Ala)" "" "0000500580" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000500581" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500582" "00018376" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175*)" "8" "0000500583" "00018376" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000500584" "00018376" "90" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Glu306*)" "11" "0000500586" "00018376" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000500587" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500588" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500589" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500590" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500591" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500646" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000500647" "00018376" "10" "436" "-18" "436" "-18" "c.436-18G>C" "r.(?)" "p.(=)" "6i" "0000500648" "00018376" "10" "733" "31" "733" "31" "c.733+31T>G" "r.(?)" "p.(=)" "9i" "0000500649" "00018376" "10" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Ile)" "16" "0000500650" "00018376" "90" "-25" "0" "75" "3124" "c.-25_75+3124del" "r.0?" "p.0?" "1i_2i" "0000500651" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "" "0000500652" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500653" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500654" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500655" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500656" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500657" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500658" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500659" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500660" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000500661" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000515145" "00018376" "50" "-28" "-4" "-25" "0" "c.-28-4_-25del" "r.spl?" "p.?" "" "0000515146" "00018376" "10" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Ala101Thr)" "" "0000515147" "00018376" "30" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000515148" "00018376" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Pro127Ser)" "" "0000515149" "00018376" "50" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Thr158Lys)" "" "0000515150" "00018376" "30" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Lys171Glu)" "" "0000515151" "00018376" "30" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Ala196=)" "" "0000515152" "00018376" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Glu306Lys)" "" "0000515153" "00018376" "30" "945" "-9" "945" "-9" "c.945-9T>C" "r.(=)" "p.(=)" "" "0000515154" "00018376" "10" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "0000620989" "00018376" "30" "734" "-18" "734" "-18" "c.734-18C>A" "r.(=)" "p.(=)" "" "0000650499" "00018376" "30" "201" "0" "201" "0" "c.201C>T" "r.(=)" "p.(=)" "" "0000669616" "00018376" "30" "201" "0" "201" "0" "c.201C>T" "r.(=)" "p.(=)" "" "0000676558" "00018376" "30" "420" "0" "420" "0" "c.420A>G" "r.(?)" "p.(Pro140=)" "" "0000676559" "00018376" "30" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Ala268=)" "" "0000688700" "00018376" "50" "212" "0" "212" "0" "c.212A>C" "r.(?)" "p.(Tyr71Ser)" "" "0000688701" "00018376" "50" "866" "0" "866" "0" "c.866C>G" "r.(?)" "p.(Ala289Gly)" "" "0000688702" "00018376" "30" "1167" "0" "1167" "0" "c.1167T>A" "r.(?)" "p.(Asp389Glu)" "" "0000718624" "00018376" "30" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Val260Ile)" "" "0000718625" "00018376" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000718626" "00018376" "30" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Leu288=)" "" "0000732498" "00018376" "90" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Thr158Lys)" "" "0000732508" "00018376" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000784268" "00018376" "70" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Arg)" "" "0000784367" "00018376" "70" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Ile36Thr)" "" "0000784441" "00018376" "50" "944" "3" "944" "3" "c.944+3G>A" "r.(=)" "p.(=)" "" "0000784540" "00018376" "50" "624" "0" "624" "0" "c.624C>A" "r.(?)" "p.(His208Gln)" "" "0000788495" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309ThrfsTer12)" "11" "0000790161" "00018376" "50" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175*)" "8" "0000790162" "00018376" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000790163" "00018376" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000790164" "00018376" "50" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000790447" "00018376" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Ala101Thr)" "" "0000790637" "00018376" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000792064" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000792065" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000792091" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000792092" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000793954" "00018376" "70" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000794143" "00018376" "70" "72" "0" "75" "15" "c.72_75+15delATC GGTGAGTGGT GCACAA" "r.spl" "p.(?)" "" "0000795929" "00018376" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Glu11Lys)" "2" "0000796274" "00018376" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "11" "0000796667" "00018376" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "5" "0000796672" "00018376" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "5" "0000796677" "00018376" "70" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Thr158Lys)" "7" "0000796704" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000798085" "00018376" "70" "513" "-1" "806" "1" "c.(512+1_513-1)_(806+1_807-1)del" "r.(?)" "p.(?)" "" "0000800485" "00018376" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000800486" "00018376" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Thr227=)" "" "0000811833" "00018376" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "" "0000812057" "00018376" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000812111" "00018376" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000812418" "00018376" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "8" "0000815442" "00018376" "50" "874" "0" "874" "0" "c.874C>G" "r.(?)" "p.(Arg292Gly)" "" "0000815469" "00018376" "50" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ser25Leu)" "" "0000815573" "00018376" "50" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(His183Arg)" "" "0000819721" "00018376" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "" "0000820051" "00018376" "70" "1103" "-2" "1103" "-2" "c.1103-2A>C" "r.spl" "p.(?)" "" "0000820309" "00018376" "70" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Ser25=)" "" "0000820340" "00018376" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Val228Met)" "" "0000820535" "00018376" "70" "136" "2" "136" "2" "c.136+2T>G" "r.spl" "p.(?)" "" "0000820869" "00018376" "70" "1103" "-1" "1361" "0" "c.(1102+1_1103-1)_(*143_?)dup" "r.spl" "p.(?)" "" "0000820961" "00018376" "70" "806" "4" "806" "4" "c.806+4A>G" "r.spl?" "p.(?)" "" "0000829931" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000849797" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "" "0000872704" "00018376" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala383Leufs*5)" "16" "0000872705" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872706" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872707" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872708" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872709" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872710" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872711" "00018376" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872712" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "11" "0000872713" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872714" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872715" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872716" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872717" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872718" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872719" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872720" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872721" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872722" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872723" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872724" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872725" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "7" "0000872726" "00018376" "90" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ser133Leu)" "6" "0000872922" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "" "0000872923" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "" "0000872924" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "" "0000872925" "00018376" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Asn309Thrfs*12)" "" "0000885022" "00018376" "50" "944" "5" "944" "5" "c.944+5G>A" "r.spl?" "p.?" "" "0000928563" "00018376" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(=)" "" "0000933401" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "" "0000933402" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "" "0000933403" "00018376" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Cys147Phe)" "" "0000958198" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" "0000958543" "00018376" "70" "806" "4" "806" "4" "c.806+4A>G" "r.spl?" "p.?" "" "0000958653" "00018376" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" "0000961970" "00018376" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(=)" "" "0000961971" "00018376" "30" "1112" "19" "1112" "19" "c.1112+19T>C" "r.(=)" "p.(=)" "" "0001033119" "00018376" "50" "180" "0" "180" "0" "c.180A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 117 "{{screeningid}}" "{{variantid}}" "0000100523" "0000162822" "0000145108" "0000796677" "0000220471" "0000455438" "0000233475" "0000476183" "0000233476" "0000476184" "0000233477" "0000476185" "0000233478" "0000476186" "0000233479" "0000476187" "0000233480" "0000476188" "0000233481" "0000476189" "0000233482" "0000476190" "0000234748" "0000477456" "0000234749" "0000477457" "0000234750" "0000477458" "0000234751" "0000477459" "0000247711" "0000500580" "0000247712" "0000500581" "0000247712" "0000500582" "0000247713" "0000500583" "0000247714" "0000500584" "0000247715" "0000500586" "0000247716" "0000500587" "0000247717" "0000500588" "0000247718" "0000500589" "0000247719" "0000500590" "0000247720" "0000500591" "0000247767" "0000500646" "0000247767" "0000500647" "0000247767" "0000500648" "0000247767" "0000500649" "0000247767" "0000500650" "0000247768" "0000500651" "0000247769" "0000500652" "0000247770" "0000500653" "0000247771" "0000500654" "0000247772" "0000500655" "0000247773" "0000500656" "0000247774" "0000500657" "0000247775" "0000500658" "0000247776" "0000500659" "0000247777" "0000500660" "0000247778" "0000500661" "0000293810" "0000650499" "0000305928" "0000669616" "0000334586" "0000732498" "0000334589" "0000732508" "0000373889" "0000784367" "0000373922" "0000784441" "0000373929" "0000784540" "0000373955" "0000784268" "0000376629" "0000788495" "0000377736" "0000790161" "0000377737" "0000790162" "0000377738" "0000790163" "0000377739" "0000790164" "0000377997" "0000790447" "0000378000" "0000790637" "0000379030" "0000792064" "0000379030" "0000792065" "0000379045" "0000792091" "0000379046" "0000792092" "0000380762" "0000793954" "0000380910" "0000794143" "0000382214" "0000795929" "0000382450" "0000796274" "0000382810" "0000796667" "0000382813" "0000796672" "0000382828" "0000796704" "0000383817" "0000798085" "0000384992" "0000811833" "0000385163" "0000812057" "0000385197" "0000812111" "0000385384" "0000812418" "0000387396" "0000815573" "0000387433" "0000815469" "0000387516" "0000815442" "0000390376" "0000819721" "0000390706" "0000820051" "0000390964" "0000820309" "0000390995" "0000820340" "0000390995" "0000820869" "0000391190" "0000820535" "0000391190" "0000820961" "0000397869" "0000829931" "0000414981" "0000872704" "0000414982" "0000872705" "0000414983" "0000872706" "0000414984" "0000872707" "0000414985" "0000872708" "0000414986" "0000872709" "0000414987" "0000872710" "0000414988" "0000872711" "0000414989" "0000872712" "0000414990" "0000872713" "0000414991" "0000872714" "0000414992" "0000872715" "0000414993" "0000872716" "0000414994" "0000872717" "0000414995" "0000872718" "0000414996" "0000872719" "0000414997" "0000872720" "0000414998" "0000872721" "0000414999" "0000872722" "0000415000" "0000872723" "0000415001" "0000872724" "0000415002" "0000872725" "0000415003" "0000872726" "0000415168" "0000872922" "0000415169" "0000872923" "0000415170" "0000872924" "0000415171" "0000872925" "0000437935" "0000933401" "0000437936" "0000933402" "0000437937" "0000933403" "0000448712" "0000958198" "0000448712" "0000958543" "0000448879" "0000958653"