### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IMPG2) # 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}}" "IMPG2" "interphotoreceptor matrix proteoglycan 2" "3" "q12.2-q12.3" "unknown" "NG_028284.1" "UD_132118686345" "" "https://www.LOVD.nl/IMPG2" "" "1" "18362" "50939" "607056" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/IMPG2_NM_016247.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-10-19 00:00:00" "00006" "2020-07-06 09:52:27" "00006" "2023-01-23 12:19:30" ## 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}}" "00010022" "IMPG2" "interphotoreceptor matrix proteoglycan 2" "001" "NM_016247.3" "" "NP_057331.2" "" "" "" "-203" "8149" "3726" "101039419" "100941390" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "01951" "MPOD" "myeloperoxidase deficiency (MPOD)" "AR" "254600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-10 09:42:36" "03365" "RP56" "retinitis pigmentosa, type 56 (RP56, maculopathy)" "AR" "613581" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "04519" "VMD5" "dystrophy, macular, vitelliform, type 5 (VMD-5)" "AD" "616152" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "IMPG2" "01424" "IMPG2" "03365" "IMPG2" "04519" ## Individuals ## Do not remove or alter this header ## ## Count = 166 "{{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}}" "00033089" "" "" "" "2" "" "00229" "{PMID:Van Huet 2014:24876279}, {PMID:Neveling 2012:22334370}" "2-generation family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "" "FamG" "00033358" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00033601" "" "" "" "1" "" "00130" "{PMID:Van Huet 2014:24876279}" "2-generation family, 1 affected" "F" "yes" "" "" "0" "" "" "" "FamJ" "00155480" "" "" "" "3" "" "01243" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}, {PMID:Sharon 2019:31456290}" "4-generation family, 3 affected sisters" "F" "yes" "Israel" "" "0" "" "" "Iraq;Jewish" "MOL0764" "00155481" "" "" "" "1" "" "01243" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Sharon 2019:31456290}" "" "F" "yes" "Israel" "" "0" "" "" "Arab Christian" "MOL0732" "00209031" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat51" "00232399" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232400" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232401" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232402" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232403" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232404" "" "" "" "17" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232405" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232406" "" "" "" "577" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232407" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232408" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232409" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232410" "" "" "" "25" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232411" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232412" "" "" "" "16" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232413" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232414" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232415" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232416" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232417" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232418" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232419" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232420" "" "" "" "22" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233654" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233655" "" "" "" "471" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233656" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240445" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240446" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240447" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00275579" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00308419" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}" "" "" "" "France" "" "0" "" "" "" "CIC00680" "00308611" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00308656" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00309196" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309197" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309199" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309805" "" "" "" "1" "" "00006" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "2-generation family, 3 affected sibs (F, 2M)" "F;M" "" "Netherlands" "" "0" "" "" "" "W01-299" "00309806" "" "" "" "1" "" "00006" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "family, 2 affected 2nd cousins" "" "" "Netherlands" "" "0" "" "" "" "W08-1378" "00309807" "" "" "" "2" "" "00006" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "2-generation family, 2 affected sisters" "F" "yes" "Italy" "" "0" "" "" "" "NAP1" "00309808" "" "" "" "1" "" "00006" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "2-generation family, 1 affected" "F" "yes" "Italy" "" "0" "" "" "" "NAP75" "00309809" "" "" "" "3" "" "00006" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "2-generation family, 3 affected (2F, M)" "F;M" "yes" "Pakistan" "" "0" "" "" "" "RP49" "00309815" "" "" "" "2" "" "00006" "{PMID:Meunier 2014:25085631}" "3-generation family, 2 affected (2M)" "M" "" "France" "" "0" "" "" "" "Fam4" "00309816" "" "" "" "3" "" "00006" "{PMID:Bocquet 2013:24339724}" "2-generation family, 3 affected (F, 2M)" "F;M" "yes" "France" "" "0" "" "" "" "PB15" "00309824" "" "" "" "1" "" "00006" "{PMID:Van Huet 2014:24876279}," "2-generation family, 2 affected sisters" "F" "" "" "" "0" "" "" "" "FamH" "00309825" "" "" "" "1" "" "00006" "{PMID:Van Huet 2014:24876279}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "FamK" "00309828" "" "" "" "2" "" "00006" "{PMID:Brandl 2017:28644393}" "2-generation family, 2 affected (2F)" "F" "" "Germany" "" "0" "" "" "" "Fam8–572" "00309829" "" "" "" "2" "" "00006" "{PMID:Brandl 2017:28644393}" "2-generation family, 2 affected (F, M)" "M" "" "Germany" "" "0" "" "" "" "Fam9–399" "00309830" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "" "M" "" "Germany" "" "0" "" "" "" "Fam8–206" "00309831" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "" "M" "" "Germany" "" "0" "" "" "" "Fam8–453" "00309832" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "" "F" "" "Germany" "" "0" "" "" "" "Fam6–225" "00309833" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "" "M" "" "Germany" "" "0" "" "" "" "Fam6–75" "00309834" "" "" "" "1" "" "00006" "{PMID:Brandl 2017:28644393}" "3-generation family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "Fam9–274" "00309835" "" "" "" "2" "" "00006" "{PMID:Brandl 2017:28644393}" "2-generation family, 2 affected (F, M)" "F" "" "Germany" "" "0" "" "" "" "Fam8–553" "00309836" "" "" "" "1" "" "00006" "{PMID:Shah 2018:30300315}" "" "F" "" "United States" "" "0" "" "" "white" "" "00325426" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "1602" "00325459" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3332" "00327926" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240040" "00327974" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G000986" "00328006" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001043" "00328118" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005240" "00333700" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "861" "00333701" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "862" "00333805" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "1" "00333838" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "34" "00333839" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "35" "00333840" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "36" "00333906" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "273" "00334575" "" "" "" "2" "" "00000" "{PMID:Vincent 2017:28488341}" "family, 2 affected, patient and mother?" "F" "" "Samoa" "" "0" "" "" "" "216" "00335124" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "458" "00358960" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case28865" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00358967" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71315" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00358978" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71868" "00359114" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12014873" "00359200" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12002961" "00359215" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13004890" "00359331" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "32408" "00359332" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "29709" "00363459" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "3XN+K.89" "00363605" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01587" "00363666" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2068" "00363689" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0554" "00363702" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1252" "00363718" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2330" "00363741" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1769" "00371667" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "178411" "00372654" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "M" "" "China" "" "0" "" "" "" "RP337" "00372667" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP022" "00372669" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP281" "00372675" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP298" "00372681" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP292" "00372692" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP266" "00372703" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP031" "00372722" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP285" "00372731" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP402" "00372739" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP240" "00372747" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP368" "00373374" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373802" "" "" "" "1" "" "04043" "" "" "M" "" "Netherlands" "" "" "" "" "" "" "00373803" "" "" "" "1" "" "04043" "" "" "M" "" "Netherlands" "" "" "" "" "" "" "00373854" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp69" "00375275" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6481" "00376780" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "46" "00376788" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "55" "00377225" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "330" "00377957" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "affected sister also both variants but both come from father, no other variant in lower covered region." "" "" "" "" "0" "" "" "" "" "00380124" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "no" "Saudi Arabia" "" "0" "" "" "" "09DG00922" "00380144" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "15DG0195" "00380146" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG2178" "00380370" "" "" "" "1" "" "00000" "{PMID:Bocquet-2013:23350551}" "" "" "yes" "France" "" "0" "" "" "" "" "00381000" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381169" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "yes" "" "" "0" "" "" "" "" "00381885" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "35" "00381957" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "26" "00382554" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "416" "00382555" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "417" "00383431" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00383432" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383433" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00383434" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00383502" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00383912" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0223" "00383970" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1161" "00386180" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-293" "00386874" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-038" "00388860" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 61, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "144" "00388871" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "155" "00388897" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 69, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "181" "00389402" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 249, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "686" "00389403" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 249, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "687" "00389439" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 271, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "723" "00389443" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 275, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "727" "00389446" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 280, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "730" "00389459" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 287, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "743" "00389547" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 342, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "831" "00389635" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 393, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "919" "00390042" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1520" "00390286" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G000986" "00390287" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001043" "00390288" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005240" "00391171" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "133" "00393891" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00394602" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394603" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" "00395876" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F202" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00409840" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, individual 1.1 (proband)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "1.1" "00409841" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, individual 1.2 (proband\'s brother 1)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "1.2" "00409842" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, individual 1.3 (proband\'s sister 2)" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "1.4" "00409843" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, individual 1.4 (proband\'s brother 2)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "1.5" "00409844" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, father" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "1.father" "00409845" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 1, mother" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "1.mother" "00409846" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 2, individual 2.1 (proband)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "2.1" "00409847" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 2, father" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "3.1" "00409848" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 3, individual 3.1 (proband)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "3.father" "00409849" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31264916}" "Family 4, individual 4.1 (proband)" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "4.1" "00419708" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070940" "00420514" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F202" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 166 "{{individualid}}" "{{diseaseid}}" "00033089" "04214" "00033358" "04214" "00033601" "04214" "00155480" "04214" "00155481" "04214" "00209031" "00381" "00232399" "04214" "00232400" "04214" "00232401" "04214" "00232402" "04214" "00232403" "04214" "00232404" "04214" "00232405" "04214" "00232406" "04214" "00232407" "04214" "00232408" "04214" "00232409" "04214" "00232410" "04214" "00232411" "04214" "00232412" "04214" "00232413" "04214" "00232414" "04214" "00232415" "04214" "00232416" "04214" "00232417" "04214" "00232418" "04214" "00232419" "04214" "00232420" "04214" "00233654" "04214" "00233655" "04214" "00233656" "04214" "00240445" "00381" "00240446" "00381" "00240447" "00381" "00275579" "00198" "00299641" "04214" "00308419" "04214" "00308611" "04214" "00308656" "04214" "00309196" "04214" "00309197" "04214" "00309199" "04214" "00309805" "04214" "00309806" "04214" "00309807" "04214" "00309808" "04214" "00309809" "04214" "00309815" "04214" "00309816" "04214" "00309824" "04214" "00309825" "04214" "00309828" "04214" "00309829" "04214" "00309830" "04214" "00309831" "04214" "00309832" "04214" "00309833" "04214" "00309834" "01951" "00309835" "01951" "00309836" "04214" "00325426" "04214" "00325459" "04214" "00327926" "04214" "00327974" "04214" "00328006" "04214" "00328118" "04214" "00333700" "04214" "00333701" "04214" "00333805" "04214" "00333838" "04214" "00333839" "04214" "00333840" "04214" "00333906" "04214" "00334575" "04214" "00335124" "00198" "00358960" "04214" "00358963" "04214" "00358967" "04214" "00358972" "04214" "00358978" "04214" "00359114" "04214" "00359200" "04214" "00359215" "04214" "00359331" "04214" "00359332" "04214" "00363459" "04214" "00363605" "04214" "00363666" "04214" "00363689" "04214" "00363702" "04214" "00363718" "04214" "00363741" "04214" "00371667" "04519" "00372654" "04214" "00372667" "04214" "00372669" "04214" "00372675" "04214" "00372681" "04214" "00372692" "04214" "00372703" "04214" "00372722" "04214" "00372731" "04214" "00372739" "04214" "00372747" "04214" "00373374" "04214" "00373802" "01424" "00373803" "01424" "00373854" "04214" "00375275" "04214" "00376780" "04214" "00376788" "04214" "00377225" "04214" "00377957" "04214" "00380124" "04214" "00380144" "04214" "00380146" "04214" "00380370" "04214" "00381000" "04214" "00381169" "04214" "00381885" "04214" "00381957" "04214" "00382554" "04214" "00382555" "04214" "00383431" "04214" "00383432" "04214" "00383433" "04214" "00383434" "04214" "00383502" "04214" "00383912" "04214" "00383970" "04214" "00386180" "04214" "00386874" "04214" "00388860" "04214" "00388871" "04214" "00388897" "04214" "00389402" "04214" "00389403" "04214" "00389439" "04214" "00389443" "04214" "00389446" "04214" "00389459" "04214" "00389547" "04214" "00389635" "04214" "00390042" "04214" "00390286" "04214" "00390287" "04214" "00390288" "04214" "00391171" "04214" "00393891" "04214" "00394602" "04214" "00394603" "04214" "00395614" "04214" "00395876" "04214" "00407355" "04214" "00409840" "04214" "00409841" "04214" "00409842" "04214" "00409843" "04214" "00409844" "04214" "00409845" "04214" "00409846" "04214" "00409847" "04214" "00409848" "04214" "00409849" "04214" "00419708" "04214" "00420514" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00381, 01424, 01951, 03365, 04214, 04519 ## Count = 136 "{{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}}" "0000026518" "04214" "00033089" "00229" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026787" "04214" "00033358" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027030" "04214" "00033601" "00130" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127980" "04214" "00155480" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000157637" "00381" "00209031" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "RP-56" "retinal dystrophy" "" "0000210199" "00198" "00275579" "01164" "Unknown" "" "Vitelliform-like macular lesions (HP:0007677); Exostoses (HP:0100777)" "" "" "" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233846" "04214" "00308419" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000234039" "04214" "00308611" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234084" "04214" "00308656" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234516" "04214" "00309196" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234517" "04214" "00309197" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234519" "04214" "00309199" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235115" "04214" "00309805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235116" "04214" "00309806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235117" "04214" "00309807" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235118" "04214" "00309808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235119" "04214" "00309809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235120" "04214" "00155481" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000235128" "04214" "00309815" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235130" "04214" "00309816" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235138" "04214" "00309824" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235139" "04214" "00309825" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235142" "04214" "00309828" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235143" "04214" "00309829" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235144" "04214" "00309830" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235145" "04214" "00309831" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235146" "04214" "00309832" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235147" "04214" "00309833" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235148" "01951" "00309834" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235149" "01951" "00309835" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000235150" "04214" "00309836" "00006" "Unknown" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000243913" "04214" "00325426" "00006" "Unknown" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243946" "04214" "00325459" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246153" "04214" "00327926" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246201" "04214" "00327974" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246233" "04214" "00328006" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246345" "04214" "00328118" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "multiple phenotypes" "" "0000251884" "04214" "00333700" "00000" "Familial, autosomal dominant" "33y" "clinical category IIB" "" "" "" "" "" "" "" "" "" "Best disease v pattern dystrophy" "" "0000251885" "04214" "00333701" "00000" "Familial, autosomal dominant" "55y" "clinical category IIB" "" "" "" "" "" "" "" "" "" "Best disease v pattern dystrophy" "" "0000251990" "04214" "00333805" "00000" "Familial, autosomal recessive" "12y" "clinical category IA1" "" "" "" "" "" "" "" "" "" "isolated progressive photoreceptor disease" "" "0000252023" "04214" "00333838" "00000" "Familial, autosomal recessive" "31y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252024" "04214" "00333839" "00000" "Familial, autosomal recessive" "46y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252025" "04214" "00333840" "00000" "Familial, autosomal recessive" "39y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252091" "04214" "00333906" "00000" "Familial, autosomal recessive" "13y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252615" "04214" "00334575" "00000" "Unknown" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252839" "00198" "00335124" "00000" "Familial, autosomal dominant" "" "32y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000254258" "04214" "00358960" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254265" "04214" "00358967" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000254276" "04214" "00358978" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, DD: retinal dystrophy" "" "0000254411" "04214" "00359114" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254497" "04214" "00359200" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254512" "04214" "00359215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254627" "04214" "00359331" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254628" "04214" "00359332" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000258820" "04214" "00363459" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258955" "04214" "00363605" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259016" "04214" "00363666" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259039" "04214" "00363689" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259052" "04214" "00363702" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259068" "04214" "00363718" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259091" "04214" "00363741" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Goldmann Favre disease" "" "0000267003" "04519" "00371667" "01164" "Unknown" "" "(+) Rod-cone dystrophy,(+) Uveitis,(+) Nyctalopia,(+) Vasculitis" "" "" "" "" "" "" "" "" "31y" "" "" "0000267933" "04214" "00372654" "00000" "Familial, autosomal recessive" "24y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267946" "04214" "00372667" "00000" "Familial, autosomal recessive" "38y" "see paper; ..." "7y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267948" "04214" "00372669" "00000" "Familial, autosomal recessive" "16y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267954" "04214" "00372675" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "28y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267960" "04214" "00372681" "00000" "Familial, X-linked" "26y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267971" "04214" "00372692" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267982" "04214" "00372703" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268001" "04214" "00372722" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268010" "04214" "00372731" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268018" "04214" "00372739" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268026" "04214" "00372747" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268650" "04214" "00373374" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269063" "04214" "00373854" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270489" "04214" "00375275" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271991" "04214" "00376780" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Night blindness, visual field peripheral restriction, decreased vision, ERG consistent with retinitis pigmentosa" "" "0000271999" "04214" "00376788" "00000" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272383" "04214" "00377225" "00000" "Isolated (sporadic)" "8y" "see paper" "6y" "8y" "" "" "" "" "" "" "" "retinal disease" "" "0000273103" "04214" "00377957" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone Distrophy" "" "0000273979" "04214" "00380124" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273999" "04214" "00380144" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274001" "04214" "00380146" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274221" "04214" "00380370" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274851" "04214" "00381000" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275020" "04214" "00381169" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275727" "04214" "00381885" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275799" "04214" "00381957" "00000" "Familial, autosomal recessive" "39y" "nystagmus; strabismus" "16y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000276403" "04214" "00382554" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276404" "04214" "00382555" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000277216" "04214" "00383431" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277217" "04214" "00383432" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277218" "04214" "00383433" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277219" "04214" "00383434" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277287" "04214" "00383502" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277697" "04214" "00383912" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277755" "04214" "00383970" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000279983" "04214" "00386180" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280674" "04214" "00386874" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282401" "04214" "00388860" "00000" "Isolated (sporadic)" "33y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282412" "04214" "00388871" "00000" "Isolated (sporadic)" "75y" "age at genetic diagnosis mentioned" "" "69y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282438" "04214" "00388897" "00000" "Familial, autosomal recessive" "48y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000282943" "04214" "00389402" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282944" "04214" "00389403" "00000" "Familial, autosomal recessive" "30y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282980" "04214" "00389439" "00000" "Familial, autosomal recessive" "47y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282984" "04214" "00389443" "00000" "Familial, autosomal recessive" "48y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282987" "04214" "00389446" "00000" "Isolated (sporadic)" "65y" "age at genetic diagnosis mentioned" "" "62y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283000" "04214" "00389459" "00000" "Familial, autosomal recessive" "38y" "age at genetic diagnosis mentioned" "" "35y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283088" "04214" "00389547" "00000" "Familial, autosomal recessive" "41y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283176" "04214" "00389635" "00000" "Isolated (sporadic)" "39y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283582" "04214" "00390042" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000283824" "04214" "00390286" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283825" "04214" "00390287" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283826" "04214" "00390288" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284613" "04214" "00391171" "00000" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000287097" "04214" "00393891" "00000" "Familial, autosomal recessive" "50y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287805" "04214" "00394602" "00000" "Familial, autosomal recessive" "29y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287806" "04214" "00394603" "00000" "Familial, autosomal recessive" "33y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" "" "" "0000289038" "04214" "00395876" "00000" "Unknown" "42y2m" "" "37y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000301956" "04214" "00409840" "00000" "Familial, autosomal recessive" "8y" "myopia 7y6m; right / left eye refraction: -1.00-2.00x013 / -1.75- 2.50x071, best corrected visual acuity: 20/60, small-angle intermittent exotropia, no nystagmus; anterior segment slit-lamp examination: normal; retinal exam: the choroid showed just temporal to the optic discs and just peripheral to the arcades; fundus autofluorescence: increased signal just temporal and superior to the discs and along the arcades; optical coherence tomography: outer retinal loss peripheral to the central macula; full-field electroretinography: rod-cone dysfunction" "7y" "" "photophobia" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301957" "04214" "00409841" "00000" "Familial, autosomal recessive" "7y" "refraction right, left eye: +0.75-1.25x030, +1.00- 1.50x165; best corrected visual acuity right, left eye: 20/50, 20/70; no strabismus or nystagmus; anterior segment slitlamp examination: normal; retinal exam: slight temporal nerve pallor, vascular attenuation, and choroidal show just nasal to the optic nerves and just peripheral to the arcades; fundus autofluorescence: increased signal just temporal to the discs and in a ring around the central macula within the arcades; on the interior aspect of the nasal portion of the ring, there were punctate spots of increased signal; optical coherence tomography: outer retinal loss peripheral to the central macula; electroretinography: cone-rod dysfunction" "6y6m" "" "vision loss; no improvement of vision from his recently prescribed glasses" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301958" "04214" "00409842" "00000" "Familial, autosomal recessive" "5y" "asymptomatic; best corrected visual acuity right, left eye: 20/100, 20/125; no strabismus or nystagmus; anterior segment slit-lamp examination: normal; cycloplegic refraction right, left eye: +2.00-3.50x025, +2.00-4.00x167; retinal exam: vascular attenuation and central mottling of the retinal pigment epithelium (RPE); fundus autofluorescence: speculated increased signal in the superior macula and a ring of increased signal around the central macula; optical coherence tomography: disruption of outer retinal layers" "" "" "not yet symptomatic" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301959" "04214" "00409843" "00000" "Familial, autosomal recessive" "4y" "best corrected visual acuity: 20/80, 20/80; no strabismus or nystagmus; anterior segment slit-lamp examination: normal; cycloplegic refraction right, left eye: +4.00-2.00x180, +2.25-1.75x180; retinal exam: central mottling of the retinal pigment epithelium; fundus autofluorescence: subtle point increased signal in the central macula; optical coherence tomography discoloration of the outer nuclear layer and thickening of the ellipsoid zone" "4y" "" "light sensitivity and poor hearing" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301960" "04214" "00409844" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity: 20/20 both eyes; unremarkable clinical examination; review of the macular optical coherence tomography: 2 focal points of retinal pigment epithelium thickening superotemporal to the fovea in the right eye and one focal point of retinal pigment epithelium thickening temporal to the optic disc left eye" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301961" "04214" "00409845" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye:: 20/20, 20/30; underwent photorefractive keratometry and sulcus collamer lens implantation for myopia; preoperative prescription was -3.50 right eye, -7.50 left eye; retinal examination: consistent with myopia, otherwise unremarkable; review of macular optical coherence tomography: one focal point of retinal pigment epithelium thickening inferotemporal to the fovea in the left eye" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301962" "04214" "00409846" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity 20/150 both eyes; no strabismus or nystagmus; anterior segment slitlamp examination: normal; cycloplegic refraction: +0.25- 2.00x180 in both eyes; retinal examination: optic disc pallor, vascular attenuation, dystrophic retinal changes, outer retinal layer loss, and central hyperautofluorescence; electroretinography: no recordable scotopic function and minimal photopic function" "" "" "poor vision since childhood" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301963" "04214" "00409847" "00000" "Familial, autosomal recessive" "17y" "15-17y: particularly decreased central vision; as a young child, she had worn a patch for a period of time; best corrected visual acuity and refraction right, left eye: 20/80, 20/40, -6.75-1.25x026, -5.25-0.75x056; large angle esotropia at near with correction (50 prism diopters); ductions full, V-pattern; . anterior segment slit-lamp examination: normal; retinal examination: optic disc pallor, peripapillary atrophy, vascular attenuation, central maculopathy, peripheral mottling, and central hyperautofluorescence; electroretinography: rod-cone dysfunction" "0m" "" "poor vision since soon after birth, particularly poor night vision" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301964" "04214" "00409848" "00000" "Familial, autosomal recessive" "61y" "poor night vision for as long as he could remember; best corrected visual acuity: 20/15 both eyes; anterior segment slit-lamp examination: normal; retinal examination: inferotemporal sector of circumscribed atrophy/pigmentation in the left eye; macular optical coherence tomography: a focal point of retinal pigment epithelium thickening nasal to the fovea of the left eye; electroretinography: normal" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000301965" "04214" "00409849" "00000" "Familial, autosomal recessive" "45y" "poor night vision since 6 years of age with slowly decreasing central vision years thereafter; best-corrected visual acuity and refraction: 20/100, -5.50, -5.50 both eyes; anterior segment examination: posterior subcapsular cataracts; retinal examination: vascular attenuation, central atrophic changes with optic nerve pallor, and peripheral mottling; declined electroretinography testing" "6y" "" "poor night vision" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000310988" "04214" "00419708" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311762" "04214" "00420514" "00000" "Familial, autosomal recessive" "42y2m" "" "37y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 166 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033157" "00033089" "1" "00229" "00229" "2012-02-04 15:05:17" "00006" "2020-09-04 08:01:55" "RT-PCR;SEQ;SEQ-NG-S" "DNA;RNA" "" "" "0000033426" "00033358" "1" "00039" "00039" "2012-09-19 09:11:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000033669" "00033601" "1" "00130" "00130" "2013-10-01 11:05:20" "" "" "SEQ" "DNA" "" "" "0000156345" "00155480" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156346" "00155481" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000210088" "00209031" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000233498" "00232399" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233499" "00232400" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233500" "00232401" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233501" "00232402" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233502" "00232403" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233503" "00232404" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233504" "00232405" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233505" "00232406" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233506" "00232407" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233507" "00232408" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233508" "00232409" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233509" "00232410" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233510" "00232411" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233511" "00232412" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233512" "00232413" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233513" "00232414" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233514" "00232415" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233515" "00232416" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233516" "00232417" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233517" "00232418" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233518" "00232419" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233519" "00232420" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234753" "00233654" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234754" "00233655" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234755" "00233656" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241555" "00240445" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241556" "00240446" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241557" "00240447" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000276737" "00275579" "1" "01164" "01164" "2020-01-09 21:03:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000309563" "00308419" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309756" "00308611" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309801" "00308656" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310341" "00309196" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310342" "00309197" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310344" "00309199" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310950" "00309805" "1" "00006" "00006" "2020-09-03 17:16:33" "" "" "arraySNP;SEQ" "DNA" "" "" "0000310951" "00309806" "1" "00006" "00006" "2020-09-03 17:25:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000310952" "00309807" "1" "00006" "00006" "2020-09-03 17:27:37" "" "" "arraySNP;SEQ" "DNA" "" "" "0000310953" "00309808" "1" "00006" "00006" "2020-09-03 17:29:26" "" "" "arraySNP;SEQ" "DNA" "" "" "0000310954" "00309809" "1" "00006" "00006" "2020-09-03 17:31:44" "" "" "arraySNP;SEQ" "DNA" "" "" "0000310960" "00309815" "1" "00006" "00006" "2020-09-03 19:11:21" "" "" "SEQ" "DNA" "" "" "0000310961" "00309816" "1" "00006" "00006" "2020-09-03 19:48:29" "" "" "SEQ" "DNA" "" "" "0000310969" "00309824" "1" "00006" "00006" "2020-09-04 08:22:09" "" "" "SEQ" "DNA" "" "" "0000310970" "00309825" "1" "00006" "00006" "2020-09-04 08:26:06" "" "" "SEQ" "DNA" "" "" "0000310973" "00309828" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310974" "00309829" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310975" "00309830" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310976" "00309831" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310977" "00309832" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310978" "00309833" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310979" "00309834" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310980" "00309835" "1" "00006" "00006" "2020-09-04 08:51:44" "" "" "SEQ" "DNA" "" "" "0000310981" "00309836" "1" "00006" "00006" "2020-09-04 09:03:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326637" "00325426" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326670" "00325459" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329141" "00327926" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329189" "00327974" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329221" "00328006" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329333" "00328118" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000334926" "00333700" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334927" "00333701" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335031" "00333805" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335064" "00333838" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335065" "00333839" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335066" "00333840" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335132" "00333906" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335804" "00334575" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000336353" "00335124" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360197" "00358960" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360204" "00358967" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360215" "00358978" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360352" "00359114" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360438" "00359200" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360453" "00359215" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360572" "00359331" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000360573" "00359332" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000364687" "00363459" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364833" "00363605" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364894" "00363666" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364917" "00363689" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364930" "00363702" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364946" "00363718" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364969" "00363741" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000372895" "00371667" "1" "01164" "01164" "2021-05-04 11:04:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000373886" "00372654" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373899" "00372667" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373901" "00372669" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373907" "00372675" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373913" "00372681" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373924" "00372692" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373935" "00372703" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373954" "00372722" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373963" "00372731" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373971" "00372739" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373979" "00372747" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374609" "00373374" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000375034" "00373802" "1" "04043" "04043" "2021-05-21 09:05:06" "" "" "SEQ-NG" "DNA" "" "" "0000375035" "00373803" "1" "04043" "04043" "2021-05-21 09:21:25" "" "" "SEQ-NG" "DNA" "" "" "0000375086" "00373854" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376472" "00375275" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000377986" "00376780" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377994" "00376788" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378430" "00377225" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000379161" "00377957" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000381326" "00380124" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel (negative), WES" "0000381346" "00380144" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381348" "00380146" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381584" "00380370" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000382214" "00381000" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382384" "00381169" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000383101" "00381885" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383173" "00381957" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383768" "00382554" "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" "0000383769" "00382555" "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" "0000384656" "00383431" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384657" "00383432" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384658" "00383433" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384659" "00383434" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384727" "00383502" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000385137" "00383912" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385195" "00383970" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000387409" "00386180" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388102" "00386874" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000390103" "00388860" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390114" "00388871" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390140" "00388897" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390645" "00389402" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390646" "00389403" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390682" "00389439" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390686" "00389443" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390689" "00389446" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390702" "00389459" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390790" "00389547" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390878" "00389635" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391283" "00390042" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000391527" "00390286" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391528" "00390287" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391529" "00390288" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392413" "00391171" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000395139" "00393891" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395849" "00394602" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395850" "00394603" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397115" "00395876" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411104" "00409840" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411105" "00409841" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411106" "00409842" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411107" "00409843" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411108" "00409844" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411109" "00409845" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411110" "00409846" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411111" "00409847" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411112" "00409848" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000411113" "00409849" "1" "00000" "03840" "2022-05-12 11:42:14" "" "" "SEQ" "DNA" "blood" "" "0000421013" "00419708" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421823" "00420514" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 137 "{{screeningid}}" "{{geneid}}" "0000033157" "ELOVL4" "0000033157" "IMPG2" "0000033426" "IMPG2" "0000033669" "IMPG2" "0000156345" "IMPG2" "0000156346" "IMPG2" "0000210088" "IMPG2" "0000233498" "IMPG2" "0000233499" "IMPG2" "0000233500" "IMPG2" "0000233501" "IMPG2" "0000233502" "IMPG2" "0000233503" "IMPG2" "0000233504" "IMPG2" "0000233505" "IMPG2" "0000233506" "IMPG2" "0000233507" "IMPG2" "0000233508" "IMPG2" "0000233509" "IMPG2" "0000233510" "IMPG2" "0000233511" "IMPG2" "0000233512" "IMPG2" "0000233513" "IMPG2" "0000233514" "IMPG2" "0000233515" "IMPG2" "0000233516" "IMPG2" "0000233517" "IMPG2" "0000233518" "IMPG2" "0000233519" "IMPG2" "0000234753" "IMPG2" "0000234754" "IMPG2" "0000234755" "IMPG2" "0000241555" "IMPG2" "0000241556" "IMPG2" "0000241557" "IMPG2" "0000300751" "ARHGEF18" "0000309563" "IMPG2" "0000309756" "IMPG2" "0000309801" "IMPG2" "0000310341" "IMPG2" "0000310342" "IMPG2" "0000310344" "IMPG2" "0000310950" "IMPG2" "0000310951" "IMPG2" "0000310952" "IMPG2" "0000310953" "IMPG2" "0000310954" "IMPG2" "0000310960" "IMPG2" "0000310961" "IMPG2" "0000310969" "IMPG2" "0000310970" "IMPG2" "0000310973" "IMPG2" "0000310974" "IMPG2" "0000310975" "IMPG2" "0000310976" "IMPG2" "0000310977" "IMPG2" "0000310978" "IMPG2" "0000310979" "IMPG2" "0000310980" "IMPG2" "0000326637" "IMPG2" "0000326670" "IMPG2" "0000329141" "IMPG2" "0000329189" "IMPG2" "0000329221" "IMPG2" "0000329333" "IMPG2" "0000334926" "IMPG2" "0000334927" "IMPG2" "0000335031" "IMPG2" "0000335064" "IMPG2" "0000335065" "IMPG2" "0000335066" "IMPG2" "0000335132" "IMPG2" "0000335804" "IMPG2" "0000335804" "PRPF31" "0000336353" "IMPG2" "0000360572" "IMPG2" "0000360573" "IMPG2" "0000364687" "IMPG2" "0000364833" "IMPG2" "0000364894" "IMPG2" "0000364917" "IMPG2" "0000364930" "IMPG2" "0000364946" "IMPG2" "0000364969" "IMPG2" "0000372895" "IMPG2" "0000375086" "IMPG2" "0000376472" "IMPG2" "0000378430" "IMPG2" "0000379161" "DFNB31" "0000381584" "IMPG2" "0000382214" "SAG" "0000382384" "IMPG2" "0000383101" "IMPG2" "0000383768" "IMPG2" "0000383769" "IMPG2" "0000384656" "IMPG2" "0000384657" "IMPG2" "0000384658" "IMPG2" "0000384659" "IMPG2" "0000384727" "IMPG2" "0000385137" "IMPG2" "0000385195" "FAM161A" "0000387409" "IMPG2" "0000388102" "IMPG2" "0000390103" "IMPG2" "0000390114" "IMPG2" "0000390140" "IMPG2" "0000390645" "IMPG2" "0000390646" "IMPG2" "0000390682" "IMPG2" "0000390686" "IMPG2" "0000390689" "IMPG2" "0000390702" "IMPG2" "0000390790" "IMPG2" "0000390878" "IMPG2" "0000391283" "IMPG2" "0000391527" "IMPG2" "0000391528" "IMPG2" "0000391529" "IMPG2" "0000392413" "IMPG2" "0000395139" "IMPG2" "0000395849" "IMPG2" "0000395850" "IMPG2" "0000396852" "IMPG2" "0000397115" "IMPG2" "0000408603" "NES" "0000411104" "IMPG2" "0000411105" "IMPG2" "0000411106" "IMPG2" "0000411107" "IMPG2" "0000411108" "IMPG2" "0000411109" "IMPG2" "0000411110" "IMPG2" "0000411111" "IMPG2" "0000411112" "IMPG2" "0000411113" "IMPG2" "0000421823" "IMPG2" ## 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 = 292 "{{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}}" "0000059940" "21" "90" "3" "100948443" "100948446" "del" "0" "00229" "IMPG2_000001" "g.100948443_100948446del" "" "{PMID:Van Huet 2014:24876279}, {PMID:Neveling 2012:22334370}" "" "c.3423-8_c.3423-5del" "" "Germline" "yes" "" "0" "" "" "g.101229599_101229602del" "" "pathogenic (recessive)" "" "0000059941" "21" "90" "3" "101023112" "101023112" "subst" "0" "00229" "IMPG2_000002" "g.101023112G>A" "" "{PMID:Van Huet 2014:24876279}, {PMID:Neveling 2012:22334370}" "" "Arg127* 379G>A" "" "Germline" "yes" "" "0" "" "" "g.101304268G>A" "" "pathogenic" "" "0000059942" "1" "90" "3" "100962834" "100962835" "del" "0" "00039" "IMPG2_000003" "g.100962834_100962835del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.101243990_101243991del" "" "pathogenic" "" "0000059943" "2" "90" "3" "100962834" "100962835" "del" "0" "00039" "IMPG2_000003" "g.100962834_100962835del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.101243990_101243991del" "" "pathogenic" "" "0000059944" "3" "70" "3" "100962459" "100962459" "subst" "0.0000326243" "00130" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "" "" "0" "" "" "g.101243615G>A" "" "likely pathogenic (recessive)" "" "0000246118" "0" "10" "3" "101023001" "101023001" "subst" "0" "02330" "IMPG2_000026" "g.101023001A>G" "" "" "" "IMPG2(NM_016247.4):c.490T>C (p.L164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304157A>G" "" "benign" "" "0000255843" "0" "50" "3" "100951746" "100951746" "subst" "0" "01943" "IMPG2_000010" "g.100951746A>T" "" "" "" "IMPG2(NM_016247.3):c.3112T>A (p.C1038S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101232902A>T" "" "VUS" "" "0000278022" "0" "10" "3" "100964694" "100964694" "subst" "0.000334214" "02330" "IMPG2_000020" "g.100964694G>T" "" "" "" "IMPG2(NM_016247.3):c.1495C>A (p.P499T), IMPG2(NM_016247.4):c.1495C>A (p.P499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101245850G>T" "" "benign" "" "0000278023" "0" "30" "3" "100963651" "100963651" "subst" "0.000571105" "02330" "IMPG2_000019" "g.100963651T>G" "" "" "" "IMPG2(NM_016247.4):c.1544-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244807T>G" "" "likely benign" "" "0000278024" "0" "10" "3" "100963282" "100963282" "subst" "0.000321311" "02330" "IMPG2_000017" "g.100963282C>T" "" "" "" "IMPG2(NM_016247.4):c.1893G>A (p.P631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244438C>T" "" "benign" "" "0000278025" "0" "50" "3" "100962651" "100962651" "subst" "0.000309036" "02330" "IMPG2_000013" "g.100962651G>T" "" "" "" "IMPG2(NM_016247.3):c.2524C>A (p.L842M), IMPG2(NM_016247.4):c.2524C>A (p.L842M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243807G>T" "" "VUS" "" "0000278026" "0" "10" "3" "100962644" "100962644" "subst" "0.0000650719" "02330" "IMPG2_000012" "g.100962644C>T" "" "" "" "IMPG2(NM_016247.3):c.2531G>A (p.R844Q), IMPG2(NM_016247.4):c.2531G>A (p.R844Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243800C>T" "" "benign" "" "0000278027" "0" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "02330" "IMPG2_000004" "g.100962459G>A" "" "" "" "IMPG2(NM_016247.3):c.2716C>T (p.R906*), IMPG2(NM_016247.4):c.2716C>T (p.R906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243615G>A" "" "pathogenic" "" "0000278028" "0" "10" "3" "100951820" "100951820" "subst" "0.00332128" "02330" "IMPG2_000011" "g.100951820G>A" "" "" "" "IMPG2(NM_016247.4):c.3038C>T (p.P1013L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101232976G>A" "" "benign" "" "0000278029" "0" "50" "3" "100951705" "100951705" "subst" "0" "02330" "IMPG2_000009" "g.100951705C>G" "" "" "" "IMPG2(NM_016247.4):c.3153G>C (p.Q1051H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101232861C>G" "" "VUS" "" "0000278030" "0" "50" "3" "101039185" "101039185" "subst" "0.0000653227" "02330" "IMPG2_000032" "g.101039185G>T" "" "" "" "IMPG2(NM_016247.4):c.32C>A (p.S11Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101320341G>T" "" "VUS" "" "0000278031" "0" "10" "3" "101023169" "101023169" "subst" "0.0014594" "02330" "IMPG2_000030" "g.101023169G>A" "" "" "" "IMPG2(NM_016247.4):c.335-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304325G>A" "" "benign" "" "0000278032" "0" "10" "3" "100948418" "100948418" "subst" "0.0049989" "02330" "IMPG2_000007" "g.100948418G>A" "" "" "" "IMPG2(NM_016247.4):c.3439C>T (p.P1147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101229574G>A" "" "benign" "" "0000278033" "0" "10" "3" "100948278" "100948278" "subst" "0.000077222" "02330" "IMPG2_000005" "g.100948278C>T" "" "" "" "IMPG2(NM_016247.4):c.3579G>A (p.G1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101229434C>T" "" "benign" "" "0000278034" "0" "50" "3" "101023132" "101023132" "subst" "0.0000081316" "02330" "IMPG2_000029" "g.101023132G>A" "" "" "" "IMPG2(NM_016247.4):c.359C>T (p.A120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304288G>A" "" "VUS" "" "0000278035" "0" "50" "3" "101023021" "101023021" "subst" "0" "02330" "IMPG2_000027" "g.101023021T>G" "" "" "" "IMPG2(NM_016247.4):c.470A>C (p.E157A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304177T>G" "" "VUS" "" "0000278037" "0" "50" "3" "100992508" "100992508" "subst" "0.000113713" "02330" "IMPG2_000023" "g.100992508G>A" "" "" "" "IMPG2(NM_016247.3):c.745C>T (p.L249F), IMPG2(NM_016247.4):c.745C>T (p.L249F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101273664G>A" "" "VUS" "" "0000278039" "0" "30" "3" "100992414" "100992414" "del" "0" "02330" "IMPG2_000022" "g.100992414del" "" "" "" "IMPG2(NM_016247.4):c.828+20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101273570del" "" "likely benign" "" "0000281538" "0" "10" "3" "100963154" "100963154" "subst" "0.654686" "02325" "IMPG2_000016" "g.100963154G>A" "" "" "" "IMPG2(NM_016247.4):c.2021C>T (p.T674I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244310G>A" "" "benign" "" "0000281539" "0" "10" "3" "100949842" "100949842" "subst" "0.790945" "02325" "IMPG2_000008" "g.100949842G>A" "" "" "" "IMPG2(NM_016247.4):c.3381C>T (p.L1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101230998G>A" "" "benign" "" "0000281540" "0" "10" "3" "100994497" "100994497" "subst" "0.423611" "02325" "IMPG2_000024" "g.100994497C>T" "" "" "" "IMPG2(NM_016247.4):c.666+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101275653C>T" "" "benign" "" "0000289622" "0" "50" "3" "100963593" "100963593" "subst" "0.000672169" "01943" "IMPG2_000018" "g.100963593T>C" "" "" "" "IMPG2(NM_016247.3):c.1582A>G (p.I528V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244749T>C" "" "VUS" "" "0000289623" "0" "30" "3" "100963081" "100963081" "subst" "0.00000814339" "01943" "IMPG2_000015" "g.100963081C>T" "" "" "" "IMPG2(NM_016247.3):c.2094G>A (p.A698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244237C>T" "" "likely benign" "" "0000289624" "0" "50" "3" "100962860" "100962860" "subst" "0" "01943" "IMPG2_000014" "g.100962860G>T" "" "" "" "IMPG2(NM_016247.3):c.2315C>A (p.T772N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244016G>T" "" "VUS" "" "0000289625" "0" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "01943" "IMPG2_000004" "g.100962459G>A" "" "" "" "IMPG2(NM_016247.3):c.2716C>T (p.R906*), IMPG2(NM_016247.4):c.2716C>T (p.R906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243615G>A" "" "pathogenic" "" "0000289626" "0" "30" "3" "100948374" "100948374" "subst" "0.0000121912" "01943" "IMPG2_000006" "g.100948374G>A" "" "" "" "IMPG2(NM_016247.3):c.3483C>T (p.P1161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101229530G>A" "" "likely benign" "" "0000289627" "0" "30" "3" "101023099" "101023099" "subst" "0.000451095" "01943" "IMPG2_000028" "g.101023099C>T" "" "" "" "IMPG2(NM_016247.3):c.392G>A (p.R131H), IMPG2(NM_016247.4):c.392G>A (p.R131H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304255C>T" "" "likely benign" "" "0000289628" "0" "30" "3" "101039160" "101039160" "subst" "0.000416514" "01943" "IMPG2_000031" "g.101039160C>G" "" "" "" "IMPG2(NM_016247.3):c.57G>C (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101320316C>G" "" "likely benign" "" "0000336876" "0" "10" "3" "100994497" "100994497" "subst" "0.423611" "02327" "IMPG2_000024" "g.100994497C>T" "" "" "" "IMPG2(NM_016247.4):c.666+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101275653C>T" "" "benign" "" "0000339211" "0" "10" "3" "100949842" "100949842" "subst" "0.790945" "02327" "IMPG2_000008" "g.100949842G>A" "" "" "" "IMPG2(NM_016247.4):c.3381C>T (p.L1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101230998G>A" "" "benign" "" "0000341850" "0" "50" "3" "101023099" "101023099" "subst" "0.000451095" "02327" "IMPG2_000028" "g.101023099C>T" "" "" "" "IMPG2(NM_016247.3):c.392G>A (p.R131H), IMPG2(NM_016247.4):c.392G>A (p.R131H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101304255C>T" "" "VUS" "" "0000343472" "0" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "02327" "IMPG2_000004" "g.100962459G>A" "" "" "" "IMPG2(NM_016247.3):c.2716C>T (p.R906*), IMPG2(NM_016247.4):c.2716C>T (p.R906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243615G>A" "" "pathogenic" "" "0000346686" "0" "50" "3" "100976574" "100976574" "subst" "0.0000163038" "02327" "IMPG2_000034" "g.100976574T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101257730T>C" "" "VUS" "" "0000347030" "0" "30" "3" "100992508" "100992508" "subst" "0.000113713" "02327" "IMPG2_000023" "g.100992508G>A" "" "" "" "IMPG2(NM_016247.3):c.745C>T (p.L249F), IMPG2(NM_016247.4):c.745C>T (p.L249F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101273664G>A" "" "likely benign" "" "0000348600" "0" "50" "3" "101038506" "101038506" "subst" "0" "02327" "IMPG2_000036" "g.101038506G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101319662G>C" "" "VUS" "" "0000349599" "0" "10" "3" "100963154" "100963154" "subst" "0.654686" "02327" "IMPG2_000016" "g.100963154G>A" "" "" "" "IMPG2(NM_016247.4):c.2021C>T (p.T674I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101244310G>A" "" "benign" "" "0000349646" "0" "50" "3" "100962552" "100962552" "subst" "0" "02327" "IMPG2_000033" "g.100962552T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101243708T>G" "" "VUS" "" "0000349947" "0" "90" "3" "101010343" "101010343" "subst" "0" "02327" "IMPG2_000035" "g.101010343A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101291499A>C" "" "pathogenic" "" "0000358267" "3" "90" "3" "100994538" "100994538" "subst" "0" "01243" "IMPG2_000037" "g.100994538G>C" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.101275694G>C" "" "pathogenic (recessive)" "" "0000358268" "3" "70" "3" "101023121" "101023121" "subst" "0.0000691063" "01243" "IMPG2_000038" "g.101023121A>G" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.101304277A>G" "" "likely pathogenic (recessive)" "" "0000441257" "1" "90" "3" "100951631" "100951631" "dup" "0" "00006" "IMPG2_000039" "g.100951631dup" "" "{PMID:Lionel 2018:28771251}" "" "3229dupT" "" "Germline" "" "" "0" "" "" "g.101232787dup" "" "pathogenic (recessive)" "" "0000441258" "2" "90" "3" "100961689" "100961689" "dup" "0" "00006" "IMPG2_000040" "g.100961689dup" "" "{PMID:Lionel 2018:28771251}" "" "2867dupA" "" "Germline" "" "" "0" "" "" "g.101242845dup" "" "pathogenic (recessive)" "" "0000476206" "0" "90" "3" "100947651" "100947651" "subst" "0.0000162561" "02591" "IMPG2_000041" "g.100947651C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750183083" "0" "" "" "g.101228807C>G" "" "pathogenic" "" "0000476207" "0" "90" "3" "100948254" "100948255" "del" "0" "02591" "IMPG2_000042" "g.100948254_100948255del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101229410_101229411del" "" "pathogenic" "" "0000476208" "3" "90" "3" "100951761" "100951761" "subst" "0" "02591" "IMPG2_000043" "g.100951761C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101232917C>A" "" "pathogenic" "" "0000476209" "0" "50" "3" "100961543" "100961543" "subst" "0" "02591" "IMPG2_000044" "g.100961543T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101242699T>C" "" "VUS" "" "0000476210" "0" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "02591" "IMPG2_000004" "g.100962459G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs267606876" "0" "" "" "g.101243615G>A" "" "pathogenic" "" "0000476211" "0" "50" "3" "100962744" "100962744" "subst" "0.000126055" "02591" "IMPG2_000045" "g.100962744A>C" "17/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs76048775" "0" "" "" "g.101243900A>C" "" "VUS" "" "0000476212" "0" "50" "3" "100963104" "100963104" "subst" "0.0000285021" "02591" "IMPG2_000046" "g.100963104C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147163766" "0" "" "" "g.101244260C>T" "" "VUS" "" "0000476213" "0" "10" "3" "100963154" "100963154" "subst" "0.654686" "02591" "IMPG2_000016" "g.100963154G>A" "577/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs571391" "0" "" "" "g.101244310G>A" "" "benign" "" "0000476214" "0" "50" "3" "100963593" "100963593" "subst" "0.000672169" "02591" "IMPG2_000018" "g.100963593T>C" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs142710242" "0" "" "" "g.101244749T>C" "" "VUS" "" "0000476215" "0" "50" "3" "100964807" "100964807" "subst" "0.000544857" "02591" "IMPG2_000047" "g.100964807G>C" "8/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201905772" "0" "" "" "g.101245963G>C" "" "VUS" "" "0000476216" "0" "90" "3" "100964926" "100964926" "subst" "0" "02591" "IMPG2_000048" "g.100964926C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101246082C>T" "" "pathogenic" "" "0000476217" "0" "50" "3" "100972560" "100972560" "subst" "0.0000615814" "02591" "IMPG2_000049" "g.100972560C>A" "25/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199986912" "0" "" "" "g.101253716C>A" "" "VUS" "" "0000476218" "0" "50" "3" "100972592" "100972592" "subst" "0.0000041056" "02591" "IMPG2_000050" "g.100972592A>G" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs773850021" "0" "" "" "g.101253748A>G" "" "VUS" "" "0000476219" "0" "50" "3" "100972610" "100972610" "subst" "0.00123802" "02591" "IMPG2_000051" "g.100972610C>T" "16/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139255481" "0" "" "" "g.101253766C>T" "" "VUS" "" "0000476220" "0" "50" "3" "100988375" "100988375" "subst" "0" "02591" "IMPG2_000052" "g.100988375G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101269531G>C" "" "VUS" "" "0000476221" "0" "50" "3" "100995561" "100995561" "subst" "0" "02591" "IMPG2_000053" "g.100995561dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs567795716" "0" "" "" "g.101276717dup" "" "VUS" "" "0000476222" "0" "50" "3" "101023100" "101023100" "subst" "0.0000406461" "02591" "IMPG2_000054" "g.101023100G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs150344327" "0" "" "" "g.101304256G>A" "" "VUS" "" "0000476223" "0" "50" "3" "101038430" "101038430" "subst" "0" "02591" "IMPG2_000055" "g.101038430C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101319586C>G" "" "VUS" "" "0000476224" "3" "90" "3" "101038561" "101038564" "dup" "0" "02591" "IMPG2_000056" "g.101038561_101038564dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101319717_101319720dup" "" "pathogenic" "" "0000476225" "0" "50" "3" "101038586" "101038586" "subst" "0" "02591" "IMPG2_000057" "g.101038586G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101319742G>C" "" "VUS" "" "0000476226" "0" "90" "3" "101038672" "101038675" "del" "0" "02591" "IMPG2_000058" "g.101038672_101038675del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.101319828_101319831del" "" "pathogenic" "" "0000476227" "0" "50" "3" "101039196" "101039196" "subst" "0.00013485" "02591" "IMPG2_000059" "g.101039196A>C" "22/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs193120038" "0" "" "" "g.101320352A>C" "" "VUS" "" "0000477461" "3" "50" "3" "100962744" "100962744" "subst" "0.000126055" "02591" "IMPG2_000045" "g.100962744A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs76048775" "0" "" "" "g.101243900A>C" "" "VUS" "" "0000477462" "3" "10" "3" "100963154" "100963154" "subst" "0.654686" "02591" "IMPG2_000016" "g.100963154G>A" "471/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs571391" "0" "" "" "g.101244310G>A" "" "benign" "" "0000477463" "3" "50" "3" "101039196" "101039196" "subst" "0.00013485" "02591" "IMPG2_000059" "g.101039196A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs193120038" "0" "" "" "g.101320352A>C" "" "VUS" "" "0000487565" "0" "90" "3" "100951766" "100951770" "dup" "0" "03335" "IMPG2_000060" "g.100951766_100951770dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101232922_101232926dup" "" "pathogenic (recessive)" "" "0000487566" "0" "90" "3" "100963137" "100963137" "del" "0" "03335" "IMPG2_000062" "g.100963137del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101244293del" "" "pathogenic (recessive)" "" "0000487567" "10" "70" "3" "100961667" "100961667" "subst" "0" "03335" "IMPG2_000061" "g.100961667T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101242823T>C" "" "likely pathogenic (dominant)" "" "0000517298" "0" "50" "3" "100948225" "100948225" "subst" "0" "02330" "IMPG2_000063" "g.100948225T>G" "" "" "" "IMPG2(NM_016247.4):c.3632A>C (p.E1211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101229381T>G" "" "VUS" "" "0000517299" "0" "50" "3" "100948225" "100948225" "subst" "0" "02327" "IMPG2_000063" "g.100948225T>G" "" "" "" "IMPG2(NM_016247.4):c.3632A>C (p.E1211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101229381T>G" "" "VUS" "" "0000517300" "0" "90" "3" "100949961" "100949961" "subst" "0.0000284379" "01943" "IMPG2_000064" "g.100949961G>A" "" "" "" "IMPG2(NM_016247.3):c.3262C>T (p.R1088*), IMPG2(NM_016247.4):c.3262C>T (p.R1088*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101231117G>A" "" "pathogenic" "" "0000517301" "0" "90" "3" "100949961" "100949961" "subst" "0.0000284379" "02327" "IMPG2_000064" "g.100949961G>A" "" "" "" "IMPG2(NM_016247.3):c.3262C>T (p.R1088*), IMPG2(NM_016247.4):c.3262C>T (p.R1088*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101231117G>A" "" "pathogenic" "" "0000517302" "0" "50" "3" "100951835" "100951835" "subst" "0.00000408901" "02327" "IMPG2_000065" "g.100951835C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101232991C>T" "" "VUS" "" "0000517303" "0" "50" "3" "100951850" "100951850" "subst" "0.00000410213" "02327" "IMPG2_000066" "g.100951850A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101233006A>T" "" "VUS" "" "0000517304" "0" "50" "3" "100962497" "100962497" "subst" "0.00000814551" "01943" "IMPG2_000067" "g.100962497G>A" "" "" "" "IMPG2(NM_016247.3):c.2678C>T (p.T893I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101243653G>A" "" "VUS" "" "0000517305" "0" "30" "3" "100962644" "100962644" "subst" "0.0000650719" "01943" "IMPG2_000012" "g.100962644C>T" "" "" "" "IMPG2(NM_016247.3):c.2531G>A (p.R844Q), IMPG2(NM_016247.4):c.2531G>A (p.R844Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101243800C>T" "" "likely benign" "" "0000517306" "0" "30" "3" "100963119" "100963119" "subst" "0.000134307" "01943" "IMPG2_000068" "g.100963119C>T" "" "" "" "IMPG2(NM_016247.3):c.2056G>A (p.A686T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101244275C>T" "" "likely benign" "" "0000517307" "0" "50" "3" "100964675" "100964675" "subst" "0" "02327" "IMPG2_000069" "g.100964675C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101245831C>G" "" "VUS" "" "0000517308" "0" "30" "3" "100964694" "100964694" "subst" "0.000334214" "01943" "IMPG2_000020" "g.100964694G>T" "" "" "" "IMPG2(NM_016247.3):c.1495C>A (p.P499T), IMPG2(NM_016247.4):c.1495C>A (p.P499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101245850G>T" "" "likely benign" "" "0000517309" "0" "50" "3" "100964889" "100964889" "subst" "0.000203303" "02330" "IMPG2_000070" "g.100964889G>A" "" "" "" "IMPG2(NM_016247.4):c.1300C>T (p.P434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101246045G>A" "" "VUS" "" "0000517310" "0" "50" "3" "100964952" "100964952" "subst" "0" "02330" "IMPG2_000071" "g.100964952G>T" "" "" "" "IMPG2(NM_016247.4):c.1240-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101246108G>T" "" "VUS" "" "0000517311" "0" "50" "3" "100976375" "100976375" "subst" "0.000155169" "02330" "IMPG2_000072" "g.100976375T>C" "" "" "" "IMPG2(NM_016247.3):c.1151A>G (p.N384S), IMPG2(NM_016247.4):c.1151A>G (p.N384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101257531T>C" "" "VUS" "" "0000517312" "0" "10" "3" "100976386" "100976386" "subst" "0.000293858" "02330" "IMPG2_000073" "g.100976386C>T" "" "" "" "IMPG2(NM_016247.4):c.1140G>A (p.L380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101257542C>T" "" "benign" "" "0000517313" "0" "10" "3" "100992414" "100992414" "dup" "0" "02330" "IMPG2_000074" "g.100992414dup" "" "" "" "IMPG2(NM_016247.4):c.828+20dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101273570dup" "" "benign" "" "0000517314" "0" "50" "3" "100992508" "100992508" "subst" "0.000113713" "01943" "IMPG2_000023" "g.100992508G>A" "" "" "" "IMPG2(NM_016247.3):c.745C>T (p.L249F), IMPG2(NM_016247.4):c.745C>T (p.L249F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101273664G>A" "" "VUS" "" "0000517315" "0" "10" "3" "100995570" "100995570" "dup" "0" "02330" "IMPG2_000075" "g.100995570dup" "" "" "" "IMPG2(NM_016247.3):c.534-5dupT, IMPG2(NM_016247.4):c.534-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101276726dup" "" "benign" "" "0000517316" "0" "10" "3" "100995570" "100995570" "dup" "0" "01943" "IMPG2_000075" "g.100995570dup" "" "" "" "IMPG2(NM_016247.3):c.534-5dupT, IMPG2(NM_016247.4):c.534-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101276726dup" "" "benign" "" "0000517318" "0" "90" "3" "101023112" "101023112" "subst" "0" "02330" "IMPG2_000076" "g.101023112G>A" "" "" "" "IMPG2(NM_016247.3):c.379C>T (p.R127*), IMPG2(NM_016247.4):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101304268G>A" "" "pathogenic" "" "0000517319" "0" "90" "3" "101023112" "101023112" "subst" "0" "02327" "IMPG2_000076" "g.101023112G>A" "" "" "" "IMPG2(NM_016247.3):c.379C>T (p.R127*), IMPG2(NM_016247.4):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101304268G>A" "" "pathogenic" "" "0000517320" "0" "50" "3" "101023121" "101023121" "subst" "0.0000691063" "02327" "IMPG2_000038" "g.101023121A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101304277A>G" "" "VUS" "" "0000517321" "0" "30" "3" "101038486" "101038486" "subst" "0" "02330" "IMPG2_000077" "g.101038486G>A" "" "" "" "IMPG2(NM_016247.4):c.276C>T (p.C92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101319642G>A" "" "likely benign" "" "0000517322" "0" "30" "3" "101039123" "101039123" "subst" "0.000457042" "02330" "IMPG2_000078" "g.101039123T>A" "" "" "" "IMPG2(NM_016247.4):c.85+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101320279T>A" "" "likely benign" "" "0000608180" "0" "50" "3" "100961660" "100961660" "subst" "0" "02330" "IMPG2_000079" "g.100961660A>T" "" "" "" "IMPG2(NM_016247.4):c.2894T>A (p.M965K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101242816A>T" "" "VUS" "" "0000608181" "0" "50" "3" "100961723" "100961723" "subst" "0.0000528644" "02327" "IMPG2_000080" "g.100961723G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101242879G>A" "" "VUS" "" "0000608182" "0" "50" "3" "100962537" "100962537" "subst" "0.000370551" "01943" "IMPG2_000083" "g.100962537C>T" "" "" "" "IMPG2(NM_016247.3):c.2638G>A (p.V880M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101243693C>T" "" "VUS" "" "0000608183" "0" "90" "3" "100963102" "100963102" "del" "0" "02327" "IMPG2_000084" "g.100963102del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101244258del" "" "pathogenic" "" "0000608184" "0" "30" "3" "100972610" "100972610" "subst" "0.00123802" "02330" "IMPG2_000051" "g.100972610C>T" "" "" "" "IMPG2(NM_016247.4):c.1169G>A (p.R390H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101253766C>T" "" "likely benign" "" "0000608186" "0" "30" "3" "101038540" "101038540" "subst" "0" "02330" "IMPG2_000086" "g.101038540C>T" "" "" "" "IMPG2(NM_016247.4):c.222G>A (p.Q74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101319696C>T" "" "likely benign" "" "0000608187" "0" "30" "3" "101039234" "101039234" "subst" "0.000248762" "02330" "IMPG2_000087" "g.101039234G>T" "" "" "" "IMPG2(NM_016247.4):c.-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101320390G>T" "" "likely benign" "" "0000621144" "0" "30" "3" "100961755" "100961755" "subst" "0" "02330" "IMPG2_000081" "g.100961755C>A" "" "" "" "IMPG2(NM_016247.4):c.2803-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101242911C>A" "" "likely benign" "" "0000621146" "0" "50" "3" "100964890" "100964892" "del" "0" "01943" "IMPG2_000085" "g.100964890_100964892del" "" "" "" "IMPG2(NM_016247.3):c.1301_1303delCAC (p.P434del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101246046_101246048del" "" "VUS" "" "0000630870" "0" "50" "3" "100948443" "100948446" "del" "0" "01164" "IMPG2_000088" "g.100948443_100948446del" "" "" "" "" "ACMG: PP3" "Germline" "" "rs534452999" "0" "" "" "g.101229599_101229602del" "" "VUS" "ACMG" "0000663587" "1" "50" "3" "100951820" "100951820" "subst" "0.00332128" "00006" "IMPG2_000011" "g.100951820G>A" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only" "Germline" "" "" "0" "" "" "g.101232976G>A" "" "VUS" "" "0000676767" "0" "50" "3" "100949984" "100949984" "subst" "0.0000690866" "01943" "IMPG2_000089" "g.100949984C>T" "" "" "" "IMPG2(NM_016247.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676768" "0" "50" "3" "100963580" "100963580" "subst" "0.00000407173" "02330" "IMPG2_000090" "g.100963580G>A" "" "" "" "IMPG2(NM_016247.4):c.1595C>T (p.P532L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684428" "1" "70" "3" "101023112" "101023112" "subst" "0" "00004" "IMPG2_000076" "g.101023112G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}" "" "c.379G>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101304268G>A" "" "likely pathogenic (recessive)" "" "0000684629" "3" "70" "3" "100992427" "100992427" "subst" "0.0000040627" "00004" "IMPG2_000093" "g.100992427C>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.101273583C>A" "" "likely pathogenic (recessive)" "" "0000684674" "3" "90" "3" "100992424" "100992424" "subst" "0.0000121892" "00004" "IMPG2_000092" "g.100992424C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000685252" "0" "90" "3" "100962901" "100962901" "subst" "0" "00004" "IMPG2_000091" "g.100962901C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685253" "0" "90" "3" "100962901" "100962901" "subst" "0" "00004" "IMPG2_000091" "g.100962901C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685255" "0" "70" "3" "101023121" "101023121" "subst" "0.0000691063" "00004" "IMPG2_000038" "g.101023121A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686094" "3" "90" "3" "100986081" "100987929" "del" "0" "00006" "IMPG2_000094" "g.100986081_100987929del" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686095" "3" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "00006" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686096" "3" "90" "3" "100961664" "100961664" "subst" "0.00000813213" "00006" "IMPG2_000095" "g.100961664G>A" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686097" "3" "90" "3" "100949961" "100949961" "subst" "0.0000284379" "00006" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686098" "3" "90" "3" "100963495" "100963495" "subst" "0" "00006" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Bandah-Rozenfeld 2010:20673862}, {PMID:Van Huet 2014:24876279}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686104" "11" "90" "3" "100951628" "100951628" "subst" "0" "00006" "IMPG2_000097" "g.100951628C>A" "" "{PMID:Meunier 2014:25085631}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686105" "3" "90" "3" "100994537" "100994537" "del" "0" "00006" "IMPG2_000106" "g.100994537del" "" "{PMID:Bocquet 2013:24339724}" "" "636delA" "" "Germline" "" "" "0" "" "" "g.101275693del" "" "pathogenic (recessive)" "" "0000686113" "21" "90" "3" "101010343" "101010343" "subst" "0" "00006" "IMPG2_000035" "g.101010343A>C" "" "{PMID:Van Huet 2014:24876279}" "" "Tyr171*" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686114" "10" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "00006" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Van Huet 2014:24876279}" "" "Arg906*" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686115" "3" "70" "3" "100976391" "100976391" "subst" "0" "00006" "IMPG2_000098" "g.100976391A>G" "" "{PMID:Van Huet 2014:24876279}" "" "Ser379Pro" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000686118" "1" "90" "3" "100992577" "100992577" "subst" "0" "00006" "IMPG2_000105" "g.100992577C>A" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101273733C>A" "" "pathogenic (dominant)" "" "0000686119" "1" "70" "3" "100992526" "100992526" "subst" "0" "00006" "IMPG2_000104" "g.100992526C>G" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101273682C>G" "" "likely pathogenic (dominant)" "" "0000686120" "1" "90" "3" "100963610" "100963610" "subst" "0.00000407777" "00006" "IMPG2_000103" "g.100963610G>C" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101244766G>C" "" "pathogenic (dominant)" "" "0000686121" "1" "90" "3" "100962609" "100962609" "subst" "0" "00006" "IMPG2_000102" "g.100962609G>A" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101243765G>A" "" "pathogenic (dominant)" "" "0000686122" "1" "70" "3" "100951835" "100951835" "subst" "0.00000408901" "00006" "IMPG2_000065" "g.100951835C>T" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101232991C>T" "" "likely pathogenic (dominant)" "" "0000686123" "1" "70" "3" "100951811" "100951811" "subst" "0" "00006" "IMPG2_000101" "g.100951811A>G" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101232967A>G" "" "likely pathogenic (dominant)" "" "0000686124" "1" "70" "3" "100951733" "100951733" "subst" "0" "00006" "IMPG2_000100" "g.100951733T>C" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101232889T>C" "" "likely pathogenic (dominant)" "" "0000686125" "1" "70" "3" "100951628" "100951628" "subst" "0" "00006" "IMPG2_000097" "g.100951628C>A" "" "{PMID:Brandl 2017:28644393}" "" "" "" "Germline" "" "" "0" "" "" "g.101232784C>A" "" "likely pathogenic (dominant)" "" "0000686126" "0" "90" "3" "100948385" "100948385" "subst" "0" "00006" "IMPG2_000099" "g.100948385T>A" "" "{PMID:Shah 2018:30300315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000688884" "0" "50" "3" "100948443" "100948446" "del" "0" "02327" "IMPG2_000001" "g.100948443_100948446del" "" "" "" "IMPG2(NM_016247.4):c.3423-7_3423-4delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688885" "0" "90" "3" "100949961" "100949961" "subst" "0.0000284379" "02330" "IMPG2_000064" "g.100949961G>A" "" "" "" "IMPG2(NM_016247.3):c.3262C>T (p.R1088*), IMPG2(NM_016247.4):c.3262C>T (p.R1088*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688886" "0" "30" "3" "100976375" "100976375" "subst" "0.000155169" "01943" "IMPG2_000072" "g.100976375T>C" "" "" "" "IMPG2(NM_016247.3):c.1151A>G (p.N384S), IMPG2(NM_016247.4):c.1151A>G (p.N384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710229" "1" "70" "3" "100961667" "100961667" "subst" "0" "00006" "IMPG2_000061" "g.100961667T>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.101242823T>C" "" "likely pathogenic" "ACMG" "0000710262" "1" "90" "3" "100951766" "100951770" "dup" "0" "00006" "IMPG2_000060" "g.100951766_100951770dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "3093_3097dupTGGAG" "ACMG PVS1, PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.101232922_101232926dup" "" "pathogenic" "ACMG" "0000710348" "2" "90" "3" "100963137" "100963137" "del" "0" "00006" "IMPG2_000062" "g.100963137del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "2038delG" "ACMG PVS1, PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.101244293del" "" "pathogenic" "ACMG" "0000713264" "0" "90" "3" "100962749" "100962749" "subst" "0" "00000" "IMPG2_000109" "g.100962749C>T" "" "{PMID:Carss 2017:28041643}" "" "3:100962749C>T ENST00000193391.7:c.2426G>A (Trp809Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713312" "0" "90" "3" "100951828" "100951829" "ins" "0" "00000" "IMPG2_000107" "g.100951828_100951829insTTCATCACCTAAAA" "" "{PMID:Carss 2017:28041643}" "" "3:100951827C>CTTCATCACCTAAAA ENST00000193391.7:c.3023-6_3030dupTTTTAGGTGATGAA (Ala1011PhefsTer2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713344" "3" "90" "3" "100963495" "100963495" "subst" "0" "00000" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Carss 2017:28041643}" "" "3:100963495A>T ENST00000193391.7:c.1680T>A (Tyr560Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713456" "3" "90" "3" "100963495" "100963495" "subst" "0" "00000" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Carss 2017:28041643}" "" "3:100963495A>T ENST00000193391.7:c.1680T>A (Tyr560Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713690" "0" "90" "3" "101038644" "101038644" "subst" "0" "00000" "IMPG2_000110" "g.101038644C>A" "" "{PMID:Carss 2017:28041643}" "" "3:101038644C>A ENST00000193391.7:c.118G>T (Glu40Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713710" "0" "90" "3" "100961626" "100961626" "del" "0" "00000" "IMPG2_000108" "g.100961626del" "" "{PMID:Carss 2017:28041643}" "" "3:100961625TG>T ENST00000193391.7:c.2928delC (Asn976LysfsTer6)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719104" "0" "50" "3" "100961582" "100961582" "subst" "0" "02327" "IMPG2_000111" "g.100961582T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719105" "0" "50" "3" "100962651" "100962651" "subst" "0.000309036" "01943" "IMPG2_000013" "g.100962651G>T" "" "" "" "IMPG2(NM_016247.3):c.2524C>A (p.L842M), IMPG2(NM_016247.4):c.2524C>A (p.L842M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719106" "0" "90" "3" "101023112" "101023112" "subst" "0" "01943" "IMPG2_000002" "g.101023112G>A" "" "" "" "IMPG2(NM_016247.3):c.379C>T (p.R127*), IMPG2(NM_016247.4):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000732933" "0" "70" "3" "100962763" "100962764" "del" "0" "00000" "IMPG2_000113" "g.100962763_100962764del" "" "{PMID:Stone 2017:28559085}" "" "2411_2412delGT" "" "Germline" "" "" "0" "" "" "g.101243919_101243920del" "" "likely pathogenic" "" "0000732934" "0" "70" "3" "100992508" "100992508" "subst" "0.000113713" "00000" "IMPG2_000023" "g.100992508G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.101273664G>A" "" "likely pathogenic" "" "0000733040" "3" "70" "3" "100951835" "100951835" "subst" "0.00000408901" "00000" "IMPG2_000065" "g.100951835C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.101232991C>T" "" "likely pathogenic" "" "0000733073" "1" "70" "3" "100962763" "100962764" "del" "0" "00000" "IMPG2_000113" "g.100962763_100962764del" "" "{PMID:Stone 2017:28559085}" "" "2411_2412delGT" "" "Germline" "" "" "0" "" "" "g.101243919_101243920del" "" "likely pathogenic" "" "0000733074" "1" "70" "3" "100947720" "100947720" "subst" "0.0000162774" "00000" "IMPG2_000112" "g.100947720C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.101228876C>A" "" "likely pathogenic" "" "0000733075" "3" "70" "3" "101023080" "101023080" "subst" "0.0000121916" "00000" "IMPG2_000117" "g.101023080C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.101304236C>T" "" "likely pathogenic" "" "0000733141" "3" "70" "3" "100963517" "100963517" "del" "0" "00000" "IMPG2_000114" "g.100963517del" "" "{PMID:Stone 2017:28559085}" "" "1658delT" "" "Germline" "" "" "0" "" "" "g.101244673del" "" "likely pathogenic" "" "0000733537" "2" "70" "3" "100976368" "100976368" "subst" "0" "00000" "IMPG2_000115" "g.100976368C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.101257524C>A" "" "likely pathogenic" "" "0000733538" "2" "70" "3" "100976431" "100976431" "dup" "0" "00000" "IMPG2_000116" "g.100976431dup" "" "{PMID:Stone 2017:28559085}" "" "1094_1095insT" "" "Germline" "" "" "0" "" "" "g.101257587dup" "" "likely pathogenic" "" "0000734714" "0" "50" "3" "101038431" "101038431" "subst" "0.0000163187" "00000" "IMPG2_000118" "g.101038431G>A" "" "{PMID:Vincent 2017:28488341}" "" "" "" "Germline" "" "" "0" "" "" "g.101319587G>A" "" "VUS" "" "0000735628" "0" "90" "3" "101010343" "101010343" "subst" "0" "00000" "IMPG2_000035" "g.101010343A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.101291499A>C" "" "pathogenic" "" "0000760012" "0" "50" "3" "100951820" "100951820" "subst" "0.00332128" "00000" "IMPG2_000011" "g.100951820G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101232976G>A" "" "VUS" "" "0000760018" "0" "50" "3" "101038479" "101038479" "subst" "0" "00000" "IMPG2_000122" "g.101038479C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101319635C>T" "" "VUS" "" "0000760039" "0" "50" "3" "100964889" "100964889" "subst" "0.000203303" "00000" "IMPG2_000070" "g.100964889G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101246045G>A" "" "VUS" "" "0000760064" "0" "50" "3" "101038499" "101038499" "subst" "0.0000122122" "00000" "IMPG2_000123" "g.101038499C>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101319655C>A" "" "VUS" "" "0000760090" "0" "50" "3" "100976600" "100976600" "subst" "0" "00000" "IMPG2_000121" "g.100976600T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101257756T>C" "" "VUS" "" "0000760244" "0" "50" "3" "100962763" "100962764" "del" "0" "00000" "IMPG2_000113" "g.100962763_100962764del" "" "{PMID:Ellingford 2016:27208204}" "" "2412_2413delTG" "" "Germline" "" "" "0" "" "" "g.101243919_101243920del" "" "VUS" "" "0000760330" "3" "50" "3" "101039149" "101039149" "dup" "0" "00000" "IMPG2_000124" "g.101039149dup" "" "{PMID:Ellingford 2016:27208204}" "" "68dupA" "" "Germline" "" "" "0" "" "" "g.101320305dup" "" "VUS" "" "0000760345" "3" "70" "3" "100963495" "100963495" "subst" "0" "00000" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.101244651A>T" "" "likely pathogenic" "" "0000760467" "0" "50" "3" "100947720" "100947720" "subst" "0.0000162774" "00000" "IMPG2_000112" "g.100947720C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.101228876C>A" "" "VUS" "" "0000760604" "1" "90" "3" "100951802" "100951802" "subst" "0" "00000" "IMPG2_000120" "g.100951802C>T" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.101232958C>T" "" "pathogenic" "" "0000760605" "1" "90" "3" "100951745" "100951745" "subst" "0" "00000" "IMPG2_000119" "g.100951745C>A" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.101232901C>A" "" "pathogenic" "" "0000760613" "2" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "00000" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.101243615G>A" "" "pathogenic" "" "0000760614" "2" "90" "3" "100948443" "100948446" "del" "0" "00000" "IMPG2_000001" "g.100948443_100948446del" "" "{PMID:Khan 2017:27160483}" "" "c.3423‐7_3423‐4delCTTT)" "" "Germline" "" "" "0" "" "" "g.101229599_101229602del" "" "pathogenic" "" "0000765562" "1" "90" "3" "100963586" "100963586" "subst" "0.00000407332" "00000" "IMPG2_000126" "g.100963586G>T" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.101244742G>T" "" "pathogenic" "" "0000765599" "2" "90" "3" "100951828" "100951841" "dup" "0" "00000" "IMPG2_000125" "g.100951828_100951841dup" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.101232984_101232997dup" "" "pathogenic" "" "0000765775" "0" "70" "3" "100962834" "100962835" "del" "0" "00000" "IMPG2_000003" "g.100962834_100962835del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101243990_101243991del" "" "likely pathogenic" "" "0000765836" "0" "70" "3" "100962901" "100962901" "subst" "0" "00000" "IMPG2_000091" "g.100962901C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101244057C>T" "" "likely pathogenic" "" "0000765859" "0" "70" "3" "100962901" "100962901" "subst" "0" "00000" "IMPG2_000091" "g.100962901C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101244057C>T" "" "likely pathogenic" "" "0000765872" "0" "70" "3" "101010343" "101010343" "subst" "0" "00000" "IMPG2_000035" "g.101010343A>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101291499A>C" "" "likely pathogenic" "" "0000765888" "0" "70" "3" "100962901" "100962901" "subst" "0" "00000" "IMPG2_000091" "g.100962901C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101244057C>T" "" "likely pathogenic" "" "0000765911" "0" "70" "3" "101023111" "101023111" "subst" "0" "00000" "IMPG2_000127" "g.101023111C>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.101304267C>G" "" "likely pathogenic" "" "0000780182" "0" "50" "3" "100948375" "100948375" "subst" "0.0000121917" "01164" "IMPG2_000128" "g.100948375G>A" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000784237" "0" "70" "3" "100962969" "100962969" "subst" "0" "00000" "IMPG2_000134" "g.100962969A>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.101244125A>G" "" "likely pathogenic (recessive)" "" "0000784248" "0" "70" "3" "100961686" "100961686" "dup" "0" "00000" "IMPG2_000133" "g.100961686dup" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.2868dupT" "" "Germline" "" "" "0" "" "" "g.101242842dup" "" "likely pathogenic (recessive)" "" "0000784267" "0" "70" "3" "100962537" "100962537" "subst" "0.000370551" "00000" "IMPG2_000083" "g.100962537C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182124594" "0" "" "" "g.101243693C>T" "" "likely pathogenic (recessive)" "" "0000784316" "0" "70" "3" "100947651" "100947651" "subst" "0.0000162561" "00000" "IMPG2_000041" "g.100947651C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.101228807C>G" "" "likely pathogenic (recessive)" "" "0000784345" "0" "70" "3" "100962537" "100962537" "subst" "0.000370551" "00000" "IMPG2_000083" "g.100962537C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182124594" "0" "" "" "g.101243693C>T" "" "likely pathogenic (recessive)" "" "0000784382" "0" "70" "3" "100964807" "100964807" "subst" "0.000544857" "00000" "IMPG2_000047" "g.100964807G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201905772" "0" "" "" "g.101245963G>C" "" "likely pathogenic (recessive)" "" "0000784465" "0" "50" "3" "100947731" "100947733" "del" "0" "00000" "IMPG2_000130" "g.100947731_100947733del" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.3634-10_3634-8delTTT" "" "Germline" "" "" "0" "" "" "g.101228887_101228889del" "" "VUS" "" "0000784499" "0" "50" "3" "100963593" "100963593" "subst" "0.000672169" "00000" "IMPG2_000018" "g.100963593T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs142710242" "0" "" "" "g.101244749T>C" "" "VUS" "" "0000784503" "0" "50" "3" "100947635" "100947635" "subst" "0" "00000" "IMPG2_000129" "g.100947635G>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.101228791G>T" "" "VUS" "" "0000784536" "0" "50" "3" "100963338" "100963338" "subst" "0.00000407721" "00000" "IMPG2_000135" "g.100963338T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.101244494T>C" "" "VUS" "" "0000784543" "0" "50" "3" "100949898" "100949898" "subst" "0.00000812282" "00000" "IMPG2_000131" "g.100949898C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs140621379" "0" "" "" "g.101231054C>T" "" "VUS" "" "0000784570" "0" "50" "3" "100949997" "100949997" "subst" "0" "00000" "IMPG2_000132" "g.100949997C>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.101231153C>A" "" "VUS" "" "0000785401" "1" "90" "3" "101010343" "101010343" "subst" "0" "00000" "IMPG2_000035" "g.101010343A>C" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.101291499A>C" "" "pathogenic (recessive)" "" "0000785409" "2" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "00000" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.101243615G>A" "" "pathogenic (recessive)" "" "0000786043" "11" "50" "3" "100951835" "100951835" "subst" "0.00000408901" "04043" "IMPG2_000065" "g.100951835C>T" "" "" "" "[3023-15T>A;3023G>A]" "the variant enhances the effect on splicing of variant 3023-15T>A which resides on the same allele" "Germline" "yes" "" "0" "" "" "" "" "VUS (!)" "" "0000786044" "1" "50" "3" "100951835" "100951835" "subst" "0.00000408901" "04043" "IMPG2_000065" "g.100951835C>T" "" "" "" "[3023-15T>A;3023G>A]" "variant predicted to enhance effect on splicing of variant 3023-15T>A" "Germline" "yes" "" "0" "" "" "" "" "VUS (!)" "" "0000786353" "3" "90" "3" "100988418" "100988418" "subst" "0.00000406749" "00000" "IMPG2_000136" "g.100988418C>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.101269574C>A" "" "pathogenic" "" "0000786567" "11" "70" "3" "100951850" "100951850" "subst" "0.00000410213" "03265" "IMPG2_000066" "g.100951850A>T" "" "" "" "[3023-15T>A;3023G>A]" "in vitro splicing assay suggest effect on splicing" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000786568" "1" "70" "3" "100951850" "100951850" "subst" "0.00000410213" "03265" "IMPG2_000066" "g.100951850A>T" "" "" "" "[3023-15T>A;3023G>A]" "in vitro splicing assay suggest effect on splicing" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000788080" "3" "90" "3" "100949961" "100949961" "subst" "0.0000284379" "00000" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.101231117G>A" "" "pathogenic" "" "0000789672" "1" "50" "3" "100951835" "100951835" "subst" "0.00000408901" "04043" "IMPG2_000065" "g.100951835C>T" "" "" "" "" "effect on RNA determined based on mini gene expression cloning assay" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000789673" "0" "90" "3" "100951850" "100951850" "subst" "0.00000410213" "03265" "IMPG2_000066" "g.100951850A>T" "" "" "" "" "effect on RNA determined based on mini gene expression cloning assay" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000790444" "0" "50" "3" "100994578" "100994578" "subst" "0.000109728" "00000" "IMPG2_000138" "g.100994578T>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs147670488" "0" "" "" "g.101275734T>C" "" "VUS" "" "0000790462" "0" "50" "3" "100963496" "100963496" "subst" "0.000529903" "00000" "IMPG2_000137" "g.100963496T>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs144565223" "0" "" "" "g.101244652T>A" "" "VUS" "" "0000790588" "0" "50" "3" "100972560" "100972560" "subst" "0.0000615814" "00000" "IMPG2_000049" "g.100972560C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs199986912" "0" "" "" "g.101253716C>A" "" "VUS" "" "0000791185" "0" "90" "3" "100963215" "100963215" "del" "0" "00000" "IMPG2_000139" "g.100963215del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.101244371del" "" "pathogenic" "ACMG" "0000792271" "3" "90" "3" "100948418" "100948418" "subst" "0" "00000" "IMPG2_000140" "g.?" "" "{PMID:_Audo-2012:22277662}" "" "c.3439C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000794727" "3" "90" "3" "100973166" "100977421" "del" "0" "00000" "IMPG2_000141" "g.100973166_100977421del" "" "{PMID:Patel 2018:30054919}" "" "NM_016247.3:c.909-802 1154-539del;" "" "Germline" "yes" "" "0" "" "" "g.101254322_101258577del" "" "pathogenic (recessive)" "ACMG" "0000794747" "3" "90" "3" "100962901" "100962901" "subst" "0" "00000" "IMPG2_000091" "g.100962901C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_016247.3:c.2274G>A; p.(Trp758*)" "" "Germline" "yes" "" "0" "" "" "g.101244057C>T" "" "pathogenic (recessive)" "ACMG" "0000794749" "3" "90" "3" "100962901" "100962901" "subst" "0" "00000" "IMPG2_000091" "g.100962901C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_016247.3:c.2274G>A; p.(Trp758*)" "" "Germline" "yes" "" "0" "" "" "g.101244057C>T" "" "pathogenic (recessive)" "ACMG" "0000795062" "3" "90" "3" "100994537" "100994537" "del" "0" "00000" "IMPG2_000106" "g.100994537del" "" "{PMID:Bocquet-2013:23350551}" "" "c.636delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795930" "0" "50" "3" "100963125" "100963125" "subst" "0" "00000" "IMPG2_000142" "g.100963125C>K" "" "{PMID:Schorderet-2013:23484092}" "" "p.IMPG2-G684R" "" "Unknown" "no" "" "0" "" "" "" "" "VUS" "" "0000796173" "3" "70" "3" "100962459" "100962459" "subst" "0.0000326243" "00000" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Neveling-2013:24123792}" "" "c.2716C>T" "-" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000797093" "3" "70" "3" "100963033" "100963033" "del" "0" "00000" "IMPG2_000143" "g.100963033del" "" "{PMID:Birtel 2018:30543658}" "" "c.2143delT, p.Tyr715Thrfs*10" "Homozygous" "Germline" "?" "" "0" "" "" "g.101244189del" "" "likely pathogenic" "ACMG" "0000797196" "0" "50" "3" "101023121" "101023121" "subst" "0.0000691063" "00000" "IMPG2_000038" "g.101023121A>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.370T>C/p.F124L" "single heterozygous" "Germline" "?" "" "0" "" "" "g.101304277A>G" "" "VUS" "ACMG" "0000798019" "0" "70" "3" "100976615" "100976615" "subst" "0.0000204486" "00000" "IMPG2_000144" "g.100976615C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPG2 c.911G>A, p.(Gly304Asp)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.101257771C>T" "" "likely pathogenic" "ACMG" "0000798020" "0" "70" "3" "100995570" "100995570" "dup" "0" "00000" "IMPG2_000075" "g.100995570dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPG2 c.2890C>T, p.(Arg964*), c.534-5dup, p.(?)" "" "Germline" "?" "" "0" "" "" "g.101276726dup" "" "likely pathogenic" "ACMG" "0000798021" "0" "70" "3" "100961664" "100961664" "subst" "0.00000813213" "00000" "IMPG2_000095" "g.100961664G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPG2 c.2890C>T, p.(Arg964*), c.534-5dup, p.(?)" "" "Germline" "?" "" "0" "" "" "g.101242820G>A" "" "likely pathogenic" "ACMG" "0000800874" "0" "50" "3" "100962524" "100962524" "subst" "0.00000814445" "02330" "IMPG2_000145" "g.100962524G>C" "" "" "" "IMPG2(NM_016247.4):c.2651C>G (p.T884R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800875" "0" "90" "3" "100963586" "100963586" "subst" "0.00000407332" "01943" "IMPG2_000126" "g.100963586G>T" "" "" "" "IMPG2(NM_016247.3):c.1589C>A (p.S530*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800876" "0" "90" "3" "100992577" "100992577" "subst" "0" "02325" "IMPG2_000105" "g.100992577C>A" "" "" "" "IMPG2(NM_016247.4):c.676G>T (p.E226*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811417" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.189dup (p.Gln64Thrfs*9), Allele 2 c.189dup (p.Gln64Thrfs*9)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000811418" "3" "70" "3" "101010319" "101010322" "del" "0" "00000" "IMPG2_000147" "g.101010319_101010322del" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.533+4_533+7del (p.?), Allele 2 c.533+4_533+7del (p.?)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101291475_101291478del" "" "likely pathogenic" "" "0000811419" "3" "70" "3" "100949961" "100949961" "subst" "0.0000284379" "00000" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.3262C>T (p.Arg1088*), Allele 2 c.3262C>T (p.Arg1088*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101231117G>A" "" "likely pathogenic" "" "0000811420" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.189dup (p.Gln64Thrfs*9), Allele 2 c.189dup (p.Gln64Thrfs*9)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000811495" "0" "90" "3" "100992424" "100992424" "subst" "0.0000121892" "00000" "IMPG2_000092" "g.100992424C>T" "" "{PMID:Kim 2019:31496144}" "" "IMPG2 c.828+1G>A, Splice" "" "Germline" "?" "" "0" "" "" "g.101273580C>T" "" "pathogenic" "ACMG" "0000812015" "3" "70" "3" "100963517" "100963517" "del" "0" "00000" "IMPG2_000114" "g.100963517del" "" "{PMID:Martin Merida 2019:30902645}" "" "IMPG2 Ex.13 c.1658del p.(Val553Glyfs*3), Ex.13 c.1658del p.(Val553Glyfs*3)" "homozygous" "Germline" "yes" "" "0" "" "" "g.101244673del" "" "likely pathogenic" "" "0000812109" "0" "70" "3" "100964706" "100964706" "subst" "0" "00000" "IMPG2_000146" "g.100964706G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "FAM161A Ex.3 c.730del p.(Met244*), Ex.3 c.1567C>T p.(Arg523*), IMPG2: Ex.12 c.1483C>T p.(Gln495*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.101245862G>A" "" "likely pathogenic" "" "0000815293" "0" "50" "3" "100995561" "100995561" "dup" "0" "00000" "IMPG2_000053" "g.100995561dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPG2: NM_016247.3 c.534-4dup, p.?" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.101276717dup" "" "VUS" "ACMG" "0000816260" "0" "50" "3" "100961282" "100963863" "del" "0" "00000" "IMPG2_000140" "g.100961282_100963863del" "" "{PMID:Zampaglione-2020:32037395}" "" "IMPG2 chr3:100961282_100963863del" "del exons 13-14 of 19, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000819448" "1" "70" "3" "100949961" "100949961" "subst" "0.0000284379" "00000" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.3262C>T/p.R1088*, variant 2: c.3262C>T/p.R1088*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.101231117G>A" "" "likely pathogenic" "" "0000819459" "1" "70" "3" "100992508" "100992508" "subst" "0.000113713" "00000" "IMPG2_000023" "g.100992508G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.745C>T p.L249F, variant 2: c.1045del/p.Y349Ifs*25" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101273664G>A" "" "likely pathogenic" "" "0000819485" "1" "70" "3" "101023036" "101023036" "subst" "0" "00000" "IMPG2_000155" "g.101023036C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.455G>A/p.G152D, variant 2: c.3142C>T/p.R1048W" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101304192C>T" "" "likely pathogenic" "" "0000819990" "1" "70" "3" "101038572" "101038575" "del" "0" "00000" "IMPG2_000156" "g.101038572_101038575del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.188_191del/p.K63Sfs*13, variant 2: c.188_191del/p.K63Sfs*13" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.101319728_101319731del" "" "likely pathogenic" "" "0000819991" "1" "70" "3" "101038572" "101038575" "del" "0" "00000" "IMPG2_000156" "g.101038572_101038575del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.188_191del/p.K63Sfs*13, variant 2: c.188_191del/p.K63Sfs*13" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.101319728_101319731del" "" "likely pathogenic" "" "0000820027" "1" "70" "3" "100948443" "100948446" "del" "0" "00000" "IMPG2_000001" "g.100948443_100948446del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.3423-7_3423-4del/p.?, variant 2: c.2566C>T/p.Q856*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101229599_101229602del" "" "likely pathogenic" "" "0000820031" "1" "70" "3" "100994539" "100994539" "del" "0" "00000" "IMPG2_000153" "g.100994539del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.634del/p.S212Qfs*19, variant 2: c.634del/p.S212Qfs*19" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.101275695del" "" "likely pathogenic" "" "0000820034" "1" "70" "3" "100949961" "100949961" "subst" "0.0000284379" "00000" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.3262C>T/p.R1088*, variant 2: c.666+5G>A/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101231117G>A" "" "likely pathogenic" "" "0000820047" "1" "70" "3" "101010319" "101010322" "del" "0" "00000" "IMPG2_000147" "g.101010319_101010322del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.533+4_533+7del/p.?, variant 2: c.533+4_533+7del/p.?" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.101291475_101291478del" "" "likely pathogenic" "" "0000820135" "1" "70" "3" "101022985" "101022985" "subst" "0.00000406527" "00000" "IMPG2_000154" "g.101022985C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.501+5G>A/p.?, variant 2: c.501+5G>A/p.?" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.101304141C>T" "" "likely pathogenic" "" "0000820223" "1" "70" "3" "101039148" "101039149" "dup" "0" "00000" "IMPG2_000157" "g.101039148_101039149dup" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.68_69dup/p.D23Efs*29, variant 2: c.68_69dup/p.D23Efs*29" "error in annotation, protein change should be p.(Phe24Thrfs*5) and not p.(Asp23Glufs*29), solved, homozygous" "Unknown" "?" "" "0" "" "" "g.101320304_101320305dup" "" "likely pathogenic" "" "0000820655" "1" "70" "3" "100976483" "100976483" "del" "0" "00000" "IMPG2_000151" "g.100976483del" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.745C>T p.L249F, variant 2: c.1045del/p.Y349Ifs*25" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101257639del" "" "likely pathogenic" "" "0000820660" "1" "70" "3" "100951716" "100951716" "subst" "0.0000813259" "00000" "IMPG2_000149" "g.100951716G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.455G>A/p.G152D, variant 2: c.3142C>T/p.R1048W" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101232872G>A" "" "likely pathogenic" "" "0000820788" "1" "70" "3" "100962609" "100962609" "subst" "0" "00000" "IMPG2_000102" "g.100962609G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.3423-7_3423-4del/p.?, variant 2: c.2566C>T/p.Q856*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101243765G>A" "" "likely pathogenic" "" "0000820791" "1" "70" "3" "100994502" "100994502" "subst" "0.00000406382" "00000" "IMPG2_000152" "g.100994502C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPG2, variant 1: c.3262C>T/p.R1088*, variant 2: c.666+5G>A/p.?" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.101275658C>T" "" "likely pathogenic" "" "0000821019" "0" "70" "3" "100961747" "100961747" "subst" "0.00000407116" "00000" "IMPG2_000150" "g.100961747A>G" "1/64" "{PMID:Liu 2020:32562694}" "" "IMPG2 c.2807T>C, p.Val936Ala" "heterozygous" "Germline/De novo (untested)" "?" "rs129329041" "0" "" "" "g.101242903A>G" "" "likely pathogenic" "" "0000821276" "0" "70" "3" "100961626" "100961626" "del" "0" "00000" "IMPG2_000108" "g.100961626del" "" "{PMID:Turro 2020:32581362}" "" "IMPG2 c.2928delC, p.Asn976LysfsTer6" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101242782del" "" "likely pathogenic" "" "0000821277" "3" "90" "3" "100963495" "100963495" "subst" "0" "00000" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Turro 2020:32581362}" "" "IMPG2 c.1680T>A, p.Tyr560Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101244651A>T" "" "pathogenic" "" "0000821278" "3" "90" "3" "100963495" "100963495" "subst" "0" "00000" "IMPG2_000096" "g.100963495A>T" "" "{PMID:Turro 2020:32581362}" "" "IMPG2 c.1680T>A, p.Tyr560Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101244651A>T" "" "pathogenic" "" "0000821564" "0" "70" "3" "100951828" "100951841" "dup" "0" "00000" "IMPG2_000125" "g.100951828_100951841dup" "" "{PMID:Turro 2020:32581362}" "" "IMPG2 c.3023-6_3030dupTTTTAGGTGATGAA, p.Ala1011PhefsTer2" "heterozygous, protein change unsure, splice site may just be moved downstream, p.?" "Germline/De novo (untested)" "?" "" "0" "" "" "g.101232984_101232997dup" "" "likely pathogenic" "" "0000822704" "0" "70" "3" "100951835" "100951835" "subst" "0.00000408901" "00000" "IMPG2_000065" "g.100951835C>T" "" "{PMID:Gliem 2020:32646556}" "" "IMPG2 c.3023G > A, p.Gly1008Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.101232991C>T" "" "likely pathogenic" "" "0000826356" "3" "70" "3" "100962459" "100962459" "subst" "0.0000326243" "00000" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Liu-2020:33090715}" "" "c.2716C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827284" "0" "90" "3" "100962459" "100962459" "subst" "0.0000326243" "00000" "IMPG2_000004" "g.100962459G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.2716C>T" "" "Germline" "" "rs267606876" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827285" "0" "90" "3" "100961664" "100961664" "subst" "0.00000813213" "00000" "IMPG2_000095" "g.100961664G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.2890C>T" "" "Germline" "" "rs267606875" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827286" "3" "90" "3" "100963032" "100963032" "del" "0" "00000" "IMPG2_000143" "g.100963032del" "" "{PMID:Colombo-2020:33576794}" "" "c.2143del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG" "0000828861" "0" "90" "3" "100992577" "100992577" "subst" "0" "00000" "IMPG2_000105" "g.100992577C>A" "" "{PMID:Chen 2021:43360855}" "" "IMPG2 c.[676G>T];[?], V1: c.676G>T, (p.Glu226Ter)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.101273733C>A" "" "pathogenic" "ACMG" "0000845510" "0" "50" "3" "100964889" "100964889" "subst" "0.000203303" "00000" "IMPG2_000070" "g.100964889G>A" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.1300C>T" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000850082" "0" "30" "3" "100951639" "100951639" "subst" "0.000171089" "02330" "IMPG2_000158" "g.100951639G>A" "" "" "" "IMPG2(NM_016247.4):c.3219C>T (p.H1073=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850083" "0" "90" "3" "100963099" "100963099" "del" "0" "02327" "IMPG2_000159" "g.100963099del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850084" "0" "30" "3" "100963303" "100963303" "subst" "0.0000813597" "02330" "IMPG2_000160" "g.100963303G>A" "" "" "" "IMPG2(NM_016247.4):c.1872C>T (p.S624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850085" "0" "50" "3" "101023099" "101023099" "subst" "0.000451095" "02330" "IMPG2_000028" "g.101023099C>T" "" "" "" "IMPG2(NM_016247.3):c.392G>A (p.R131H), IMPG2(NM_016247.4):c.392G>A (p.R131H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858737" "0" "30" "3" "100963496" "100963496" "subst" "0.000529903" "02330" "IMPG2_000137" "g.100963496T>A" "" "" "" "IMPG2(NM_016247.4):c.1679A>T (p.Y560F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858738" "0" "90" "3" "100963610" "100963610" "subst" "0.00000407777" "02327" "IMPG2_000103" "g.100963610G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000868130" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "homozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868131" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "homozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868132" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "homozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868133" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "homozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868134" "0" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "heterozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868135" "0" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "heterozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868136" "3" "70" "3" "101038575" "101038575" "dup" "0" "00000" "IMPG2_000148" "g.101038575dup" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.189dup, p.Gln64Thrfs*9" "homozygous" "Germline" "yes" "" "0" "" "" "g.101319731dup" "" "likely pathogenic" "" "0000868137" "3" "70" "3" "101010319" "101010322" "del" "0" "00000" "IMPG2_000147" "g.101010319_101010322del" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.533+4_533+7del, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.101291475_101291478del" "" "likely pathogenic" "" "0000868138" "0" "70" "3" "101010319" "101010322" "del" "0" "00000" "IMPG2_000147" "g.101010319_101010322del" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.533+4_533+7del, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.101291475_101291478del" "" "likely pathogenic" "" "0000868139" "3" "70" "3" "100949961" "100949961" "subst" "0.0000284379" "00000" "IMPG2_000064" "g.100949961G>A" "" "{PMID:Khan 2019:31264916}" "" "IMPG2 c.3262C>T, p.Arg1088*" "homozygous" "Germline" "yes" "" "0" "" "" "g.101231117G>A" "" "likely pathogenic" "" "0000881431" "1" "90" "3" "101023080" "101023080" "subst" "0.0000121916" "04405" "IMPG2_000117" "g.101023080C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.101304236C>T" "" "pathogenic" "ACMG" "0000881459" "2" "90" "3" "100951828" "100951841" "dup" "0" "04405" "IMPG2_000125" "g.100951828_100951841dup" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.101232984_101232997dup" "" "pathogenic" "ACMG" "0000885460" "0" "70" "3" "100948443" "100948446" "del" "0" "02330" "IMPG2_000001" "g.100948443_100948446del" "" "" "" "IMPG2(NM_016247.4):c.3423-7_3423-4delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885461" "0" "50" "3" "100962917" "100962917" "subst" "0.000349958" "02330" "IMPG2_000161" "g.100962917G>A" "" "" "" "IMPG2(NM_016247.4):c.2258C>T (p.S753L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885462" "0" "90" "3" "100963563" "100963563" "subst" "0" "02327" "IMPG2_000162" "g.100963563G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885463" "0" "90" "3" "100992439" "100992439" "subst" "0" "02330" "IMPG2_000163" "g.100992439C>A" "" "" "" "IMPG2(NM_016247.4):c.814G>T (p.E272*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885464" "0" "90" "3" "101038441" "101038441" "del" "0" "02330" "IMPG2_000164" "g.101038441del" "" "" "" "IMPG2(NM_016247.4):c.324delT (p.F108Lfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885465" "0" "90" "3" "101039149" "101039149" "dup" "0" "02327" "IMPG2_000124" "g.101039149dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896631" "0" "90" "3" "100992577" "100992577" "subst" "0" "00000" "IMPG2_000105" "g.100992577C>A" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "IMPG2 c.[676G>T];[?]; p.(Glu226Ter)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.101273733C>A" "" "pathogenic" "" "0000911794" "0" "50" "3" "100951746" "100951746" "subst" "0" "02327" "IMPG2_000010" "g.100951746A>T" "" "" "" "IMPG2(NM_016247.3):c.3112T>A (p.C1038S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911795" "0" "50" "3" "100962591" "100962591" "subst" "0" "02327" "IMPG2_000165" "g.100962591C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911796" "0" "70" "3" "100992427" "100992427" "subst" "0.0000040627" "02327" "IMPG2_000093" "g.100992427C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911797" "0" "50" "3" "101023120" "101023120" "subst" "0" "02327" "IMPG2_000166" "g.101023120A>G" "" "" "" "" "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 IMPG2 ## Count = 292 "{{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}}" "0000059940" "00010022" "90" "3423" "-7" "3423" "-4" "c.3423-7_3423-4del" "r.3422_3423ins[3423-80_3423-8;uag]" "p.Ser1141Argfs*6" "16i" "0000059941" "00010022" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127*)" "3" "0000059942" "00010022" "90" "2346" "0" "2347" "0" "c.2346_2347del" "r.(?)" "p.(Arg782Serfs*24)" "13" "0000059943" "00010022" "90" "2346" "0" "2347" "0" "c.2346_2347del" "r.(?)" "p.(Arg782Serfs*24)" "13" "0000059944" "00010022" "70" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "9" "0000246118" "00010022" "10" "490" "0" "490" "0" "c.490T>C" "r.(?)" "p.(Leu164=)" "" "0000255843" "00010022" "50" "3112" "0" "3112" "0" "c.3112T>A" "r.(?)" "p.(Cys1038Ser)" "" "0000278022" "00010022" "10" "1495" "0" "1495" "0" "c.1495C>A" "r.(?)" "p.(Pro499Thr)" "" "0000278023" "00010022" "30" "1544" "-20" "1544" "-20" "c.1544-20A>C" "r.(=)" "p.(=)" "" "0000278024" "00010022" "10" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Pro631=)" "" "0000278025" "00010022" "50" "2524" "0" "2524" "0" "c.2524C>A" "r.(?)" "p.(Leu842Met)" "" "0000278026" "00010022" "10" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844Gln)" "" "0000278027" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000278028" "00010022" "10" "3038" "0" "3038" "0" "c.3038C>T" "r.(?)" "p.(Pro1013Leu)" "" "0000278029" "00010022" "50" "3153" "0" "3153" "0" "c.3153G>C" "r.(?)" "p.(Gln1051His)" "" "0000278030" "00010022" "50" "32" "0" "32" "0" "c.32C>A" "r.(?)" "p.(Ser11Tyr)" "" "0000278031" "00010022" "10" "335" "-13" "335" "-13" "c.335-13C>T" "r.(=)" "p.(=)" "" "0000278032" "00010022" "10" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Pro1147Ser)" "" "0000278033" "00010022" "10" "3579" "0" "3579" "0" "c.3579G>A" "r.(?)" "p.(Gly1193=)" "" "0000278034" "00010022" "50" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ala120Val)" "" "0000278035" "00010022" "50" "470" "0" "470" "0" "c.470A>C" "r.(?)" "p.(Glu157Ala)" "" "0000278037" "00010022" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000278039" "00010022" "30" "828" "20" "828" "20" "c.828+20del" "r.(=)" "p.(=)" "" "0000281538" "00010022" "10" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Thr674Ile)" "" "0000281539" "00010022" "10" "3381" "0" "3381" "0" "c.3381C>T" "r.(?)" "p.(Leu1127=)" "" "0000281540" "00010022" "10" "666" "10" "666" "10" "c.666+10G>A" "r.(=)" "p.(=)" "" "0000289622" "00010022" "50" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Ile528Val)" "" "0000289623" "00010022" "30" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Ala698=)" "" "0000289624" "00010022" "50" "2315" "0" "2315" "0" "c.2315C>A" "r.(?)" "p.(Thr772Asn)" "" "0000289625" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000289626" "00010022" "30" "3483" "0" "3483" "0" "c.3483C>T" "r.(?)" "p.(Pro1161=)" "" "0000289627" "00010022" "30" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131His)" "" "0000289628" "00010022" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Leu19=)" "" "0000336876" "00010022" "10" "666" "10" "666" "10" "c.666+10G>A" "r.(=)" "p.(=)" "" "0000339211" "00010022" "10" "3381" "0" "3381" "0" "c.3381C>T" "r.(?)" "p.(Leu1127=)" "" "0000341850" "00010022" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131His)" "" "0000343472" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000346686" "00010022" "50" "952" "0" "952" "0" "c.952A>G" "r.(?)" "p.(Ile318Val)" "" "0000347030" "00010022" "30" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000348600" "00010022" "50" "256" "0" "256" "0" "c.256C>G" "r.(?)" "p.(Pro86Ala)" "" "0000349599" "00010022" "10" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Thr674Ile)" "" "0000349646" "00010022" "50" "2623" "0" "2623" "0" "c.2623A>C" "r.(?)" "p.(Thr875Pro)" "" "0000349947" "00010022" "90" "513" "0" "513" "0" "c.513T>G" "r.(?)" "p.(Tyr171Ter)" "" "0000358267" "00010022" "90" "635" "0" "635" "0" "c.635C>G" "r.(?)" "p.(Ser212*)" "6" "0000358268" "00010022" "70" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Phe124Leu)" "3" "0000441257" "00010022" "90" "3229" "0" "3229" "0" "c.3229dup" "r.(?)" "p.(Cys1077Leufs*2)" "" "0000441258" "00010022" "90" "2867" "0" "2867" "0" "c.2867dup" "r.(?)" "p.(Asn956Lysfs*19)" "" "0000476206" "00010022" "90" "3703" "0" "3703" "0" "c.3703G>C" "r.(?)" "p.(Glu1235Gln)" "" "0000476207" "00010022" "90" "3603" "0" "3604" "0" "c.3603_3604del" "r.(?)" "p.(Gln1201Hisfs*3)" "" "0000476208" "00010022" "90" "3097" "0" "3097" "0" "c.3097G>T" "r.(?)" "p.(Glu1033*)" "" "0000476209" "00010022" "50" "3011" "0" "3011" "0" "c.3011A>G" "r.(?)" "p.(Asp1004Gly)" "" "0000476210" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "" "0000476211" "00010022" "50" "2431" "0" "2431" "0" "c.2431T>G" "r.(?)" "p.(Ser811Ala)" "" "0000476212" "00010022" "50" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000476213" "00010022" "10" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Thr674Ile)" "" "0000476214" "00010022" "50" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Ile528Val)" "" "0000476215" "00010022" "50" "1382" "0" "1382" "0" "c.1382C>G" "r.(?)" "p.(Thr461Arg)" "" "0000476216" "00010022" "90" "1263" "0" "1263" "0" "c.1263G>A" "r.(?)" "p.(Trp421*)" "" "0000476217" "00010022" "50" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Ala407Ser)" "" "0000476218" "00010022" "50" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Leu396Pro)" "" "0000476219" "00010022" "50" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "0000476220" "00010022" "50" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Arg291Gly)" "" "0000476221" "00010022" "50" "534" "-4" "534" "-4" "c.534-4dup" "r.spl?" "p.?" "" "0000476222" "00010022" "50" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Arg131Cys)" "" "0000476223" "00010022" "50" "332" "0" "332" "0" "c.332G>C" "r.(?)" "p.(Arg111Pro)" "" "0000476224" "00010022" "90" "198" "0" "201" "0" "c.198_201dup" "r.(?)" "p.(Arg68Glyfs*6)" "" "0000476225" "00010022" "50" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Ala59Gly)" "" "0000476226" "00010022" "90" "89" "0" "92" "0" "c.89_92del" "r.(?)" "p.(Gln30Profs*5)" "" "0000476227" "00010022" "50" "21" "0" "21" "0" "c.21T>G" "r.(?)" "p.(Phe7Leu)" "" "0000477461" "00010022" "50" "2431" "0" "2431" "0" "c.2431T>G" "r.(?)" "p.(Ser811Ala)" "" "0000477462" "00010022" "10" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Thr674Ile)" "" "0000477463" "00010022" "50" "21" "0" "21" "0" "c.21T>G" "r.(?)" "p.(Phe7Leu)" "" "0000487565" "00010022" "90" "3093" "0" "3097" "0" "c.3093_3097dup" "r.(?)" "p.(Glu1033Valfs*13)" "15" "0000487566" "00010022" "90" "2038" "0" "2038" "0" "c.2038del" "r.(?)" "p.(Glu680Serfs*21)" "13" "0000487567" "00010022" "70" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Ser963Gly)" "14" "0000517298" "00010022" "50" "3632" "0" "3632" "0" "c.3632A>C" "r.(?)" "p.(Glu1211Ala)" "" "0000517299" "00010022" "50" "3632" "0" "3632" "0" "c.3632A>C" "r.(?)" "p.(Glu1211Ala)" "" "0000517300" "00010022" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088Ter)" "" "0000517301" "00010022" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088Ter)" "" "0000517302" "00010022" "50" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Gly1008Asp)" "" "0000517303" "00010022" "50" "3023" "-15" "3023" "-15" "c.3023-15T>A" "r.(=)" "p.(=)" "" "0000517304" "00010022" "50" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Thr893Ile)" "" "0000517305" "00010022" "30" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844Gln)" "" "0000517306" "00010022" "30" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Ala686Thr)" "" "0000517307" "00010022" "50" "1514" "0" "1514" "0" "c.1514G>C" "r.(?)" "p.(Arg505Thr)" "" "0000517308" "00010022" "30" "1495" "0" "1495" "0" "c.1495C>A" "r.(?)" "p.(Pro499Thr)" "" "0000517309" "00010022" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000517310" "00010022" "50" "1240" "-3" "1240" "-3" "c.1240-3C>A" "r.spl?" "p.?" "" "0000517311" "00010022" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asn384Ser)" "" "0000517312" "00010022" "10" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Leu380=)" "" "0000517313" "00010022" "10" "828" "20" "828" "20" "c.828+20dup" "r.(=)" "p.(=)" "" "0000517314" "00010022" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000517315" "00010022" "10" "534" "-5" "534" "-5" "c.534-5dup" "r.spl?" "p.?" "" "0000517316" "00010022" "10" "534" "-5" "534" "-5" "c.534-5dup" "r.spl?" "p.?" "" "0000517318" "00010022" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" "" "0000517319" "00010022" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" "" "0000517320" "00010022" "50" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Phe124Leu)" "" "0000517321" "00010022" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Cys92=)" "" "0000517322" "00010022" "30" "85" "9" "85" "9" "c.85+9A>T" "r.(=)" "p.(=)" "" "0000608180" "00010022" "50" "2894" "0" "2894" "0" "c.2894T>A" "r.(?)" "p.(Met965Lys)" "" "0000608181" "00010022" "50" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Thr944Met)" "" "0000608182" "00010022" "50" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Val880Met)" "" "0000608183" "00010022" "90" "2073" "0" "2073" "0" "c.2073del" "r.(?)" "p.(Asp692IlefsTer9)" "" "0000608184" "00010022" "30" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "0000608186" "00010022" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Gln74=)" "" "0000608187" "00010022" "30" "-18" "0" "-18" "0" "c.-18C>A" "r.(?)" "p.(=)" "" "0000621144" "00010022" "30" "2803" "-4" "2803" "-4" "c.2803-4G>T" "r.spl?" "p.?" "" "0000621146" "00010022" "50" "1301" "0" "1303" "0" "c.1301_1303del" "r.(?)" "p.(Pro434del)" "" "0000630870" "00010022" "50" "3423" "-7" "3423" "-4" "c.3423-7_3423-4del" "r.(?)" "p.(?)" "" "0000663587" "00010022" "50" "3038" "0" "3038" "0" "c.3038C>T" "r.(?)" "p.(Pro1013Leu)" "" "0000676767" "00010022" "50" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000676768" "00010022" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Pro532Leu)" "" "0000684428" "00010022" "70" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127*)" "3" "0000684629" "00010022" "70" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276*)" "" "0000684674" "00010022" "90" "828" "1" "828" "1" "c.828+1G>A" "r.spl" "p.?" "" "0000685252" "00010022" "90" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758*)" "" "0000685253" "00010022" "90" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758*)" "" "0000685255" "00010022" "70" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Phe124Leu)" "" "0000686094" "00010022" "90" "887" "430" "908" "274" "c.887+430_908+274del" "r.888_908del" "p.Arg296_Asp302del" "8i_9i" "0000686095" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "" "0000686096" "00010022" "90" "2890" "0" "2890" "0" "c.2890C>T" "r.(?)" "p.(Arg964*)" "" "0000686097" "00010022" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088*)" "" "0000686098" "00010022" "90" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000686104" "00010022" "90" "3230" "0" "3230" "0" "c.3230G>T" "r.(?)" "p.(Cys1077Phe)" "" "0000686105" "00010022" "90" "636" "0" "636" "0" "c.636del" "r.(?)" "p.(Glu213Argfs*18)" "" "0000686113" "00010022" "90" "513" "0" "513" "0" "c.513T>G" "r.(?)" "p.(Tyr171*)" "" "0000686114" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "" "0000686115" "00010022" "70" "1135" "0" "1135" "0" "c.1135T>C" "r.(?)" "p.(Ser379Pro)" "" "0000686118" "00010022" "90" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Glu226*)" "" "0000686119" "00010022" "70" "727" "0" "727" "0" "c.727G>C" "r.(?)" "p.(Ala243Pro)" "" "0000686120" "00010022" "90" "1565" "0" "1565" "0" "c.1565C>G" "r.(?)" "p.(Ser522*)" "" "0000686121" "00010022" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856*)" "" "0000686122" "00010022" "70" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Gly1008Asp)" "" "0000686123" "00010022" "70" "3047" "0" "3047" "0" "c.3047T>C" "r.(?)" "p.(Phe1016Ser)" "" "0000686124" "00010022" "70" "3125" "0" "3125" "0" "c.3125A>G" "r.(?)" "p.(Tyr1042Cys)" "" "0000686125" "00010022" "70" "3230" "0" "3230" "0" "c.3230G>T" "r.(?)" "p.(Cys1077Phe)" "" "0000686126" "00010022" "90" "3472" "0" "3472" "0" "c.3472A>T" "r.(?)" "p.(Lys1158*)" "" "0000688884" "00010022" "50" "3423" "-7" "3423" "-4" "c.3423-7_3423-4del" "r.spl?" "p.?" "" "0000688885" "00010022" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088Ter)" "" "0000688886" "00010022" "30" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asn384Ser)" "" "0000710229" "00010022" "70" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Ser963Gly)" "" "0000710262" "00010022" "90" "3093" "0" "3097" "0" "c.3093_3097dup" "r.(?)" "p.(Glu1033Valfs*13)" "" "0000710348" "00010022" "90" "2038" "0" "2038" "0" "c.2038del" "r.(?)" "p.(Glu680Serfs*21)" "" "0000713264" "00010022" "90" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Trp809*)" "" "0000713312" "00010022" "90" "3029" "0" "3030" "0" "c.3029_3030insTTTTAGGTGATGAA" "r.(?)" "p.(Glu1010Aspfs*4)" "" "0000713344" "00010022" "90" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000713456" "00010022" "90" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000713690" "00010022" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Glu40*)" "" "0000713710" "00010022" "90" "2928" "0" "2928" "0" "c.2928del" "r.(?)" "p.(Asn976Lysfs*6)" "" "0000719104" "00010022" "50" "2972" "0" "2972" "0" "c.2972A>G" "r.(?)" "p.(Tyr991Cys)" "" "0000719105" "00010022" "50" "2524" "0" "2524" "0" "c.2524C>A" "r.(?)" "p.(Leu842Met)" "" "0000719106" "00010022" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" "" "0000732933" "00010022" "70" "2412" "0" "2413" "0" "c.2412_2413del" "r.(?)" "p.(Ala805*)" "" "0000732934" "00010022" "70" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000733040" "00010022" "70" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Gly1008Asp)" "" "0000733073" "00010022" "70" "2412" "0" "2413" "0" "c.2412_2413del" "r.(?)" "p.(Ala805*)" "" "0000733074" "00010022" "70" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Glu1212*)" "" "0000733075" "00010022" "70" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Trp137*)" "" "0000733141" "00010022" "70" "1658" "0" "1658" "0" "c.1658del" "r.(?)" "p.(Val553Glyfs*3)" "" "0000733537" "00010022" "70" "1153" "5" "1153" "5" "c.1153+5G>T" "r.(?)" "p.?" "" "0000733538" "00010022" "70" "1100" "0" "1100" "0" "c.1100dup" "r.(?)" "p.(Leu367Phefs*12)" "" "0000734714" "00010022" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000735628" "00010022" "90" "513" "0" "513" "0" "c.513T>G" "r.(?)" "p.(Tyr171*)" "" "0000760012" "00010022" "50" "3038" "0" "3038" "0" "c.3038C>T" "r.(?)" "p.(Pro1013Leu)" "" "0000760018" "00010022" "50" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" "" "0000760039" "00010022" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000760064" "00010022" "50" "263" "0" "263" "0" "c.263G>T" "r.(?)" "p.(Gly88Val)" "" "0000760090" "00010022" "50" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Tyr309Cys)" "" "0000760244" "00010022" "50" "2412" "0" "2413" "0" "c.2412_2413del" "r.(?)" "p.(Ala805*)" "" "0000760330" "00010022" "50" "68" "0" "68" "0" "c.68dup" "r.(?)" "p.(Asp23Glufs*29)" "" "0000760345" "00010022" "70" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000760467" "00010022" "50" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Glu1212*)" "" "0000760604" "00010022" "90" "3056" "0" "3056" "0" "c.3056G>A" "r.(?)" "p.(Cys1019Tyr)" "" "0000760605" "00010022" "90" "3113" "0" "3113" "0" "c.3113G>T" "r.(?)" "p.(Cys1038Phe)" "" "0000760613" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000760614" "00010022" "90" "" "0" "" "0" "c.3423‐7_3423‐4del" "r.spl?" "p.?" "" "0000765562" "00010022" "90" "1589" "0" "1589" "0" "c.1589C>A" "r.(?)" "p.(Ser530*)" "" "0000765599" "00010022" "90" "3030" "0" "3031" "0" "c.3030_3031insTTTTAGGTGATGAA" "r.(?)" "p.(Ala1011Phefs*2)" "" "0000765775" "00010022" "70" "2346" "0" "2347" "0" "c.2346_2347del" "r.(?)" "p.(Arg782SerfsTer24)" "" "0000765836" "00010022" "70" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758Ter)" "" "0000765859" "00010022" "70" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758Ter)" "" "0000765872" "00010022" "70" "513" "0" "513" "0" "c.513T>G" "r.(?)" "p.(Tyr171Ter)" "" "0000765888" "00010022" "70" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758Ter)" "" "0000765911" "00010022" "70" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000780182" "00010022" "50" "3482" "0" "3482" "0" "c.3482C>T" "r.(?)" "p.(Pro1161Leu)" "" "0000784237" "00010022" "70" "2206" "0" "2206" "0" "c.2206T>C" "r.(?)" "p.(Ser736Pro)" "" "0000784248" "00010022" "70" "2868" "0" "2868" "0" "c.2868dup" "r.(?)" "p.(Gly957TrpfsTer18)" "" "0000784267" "00010022" "70" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Val880Met)" "" "0000784316" "00010022" "70" "3703" "0" "3703" "0" "c.3703G>C" "r.(?)" "p.(Glu1235Gln)" "" "0000784345" "00010022" "70" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Val880Met)" "" "0000784382" "00010022" "70" "1382" "0" "1382" "0" "c.1382C>G" "r.(?)" "p.(Thr461Arg)" "" "0000784465" "00010022" "50" "3634" "-10" "3634" "-8" "c.3634-10_3634-8del" "r.(=)" "p.(=)" "" "0000784499" "00010022" "50" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Ile528Val)" "" "0000784503" "00010022" "50" "3713" "6" "3713" "6" "c.3713+6C>A" "r.(=)" "p.(=)" "" "0000784536" "00010022" "50" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Thr613Ala)" "" "0000784543" "00010022" "50" "3325" "0" "3325" "0" "c.3325G>A" "r.(?)" "p.(Val1109Met)" "" "0000784570" "00010022" "50" "3234" "-8" "3234" "-8" "c.3234-8G>T" "r.(=)" "p.(=)" "" "0000785401" "00010022" "90" "513" "0" "513" "0" "c.513T>G" "r.(?)" "p.(Tyr171Ter)" "" "0000785409" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000786043" "00010022" "50" "3023" "0" "3023" "0" "c.3023G>A" "r.(3023g>a)" "p.(Gly1008Asp)" "15" "0000786044" "00010022" "50" "3023" "0" "3023" "0" "c.3023G>A" "r.(3023g>a)" "p.(Gly1008Asp)" "15" "0000786353" "00010022" "90" "829" "-1" "829" "-1" "c.829-1G>T" "r.spl" "p.?" "" "0000786567" "00010022" "70" "3023" "-15" "3023" "-15" "c.3023-15T>A" "r.(3023_3069del)" "p.(Gly1008_Ser1023del)" "" "0000786568" "00010022" "70" "3023" "-15" "3023" "-15" "c.3023-15T>A" "r.(3023_3069del)" "p.(Gly1008_Ser1023del)" "" "0000788080" "00010022" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088Ter)" "" "0000789672" "00010022" "50" "3023" "0" "3023" "0" "c.3023G>A" "r.(3023g>a)" "p.(Gly1008Asp)" "15" "0000789673" "00010022" "90" "3023" "-15" "3023" "-15" "c.3023-15T>A" "r.(3023_3069del)" "p.(Gly1008_Ser1023del)" "" "0000790444" "00010022" "50" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Ser199Gly)" "" "0000790462" "00010022" "50" "1679" "0" "1679" "0" "c.1679A>T" "r.(?)" "p.(Tyr560Phe)" "" "0000790588" "00010022" "50" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Ala407Ser)" "" "0000791185" "00010022" "90" "1963" "0" "1963" "0" "c.1963del" "r.spl" "p.(Met655Trpfs*46)" "13" "0000792271" "00010022" "90" "3439" "0" "3439" "0" "c.?" "r.(?)" "p.(Pro1147Ser)" "17" "0000794727" "00010022" "90" "909" "-802" "1154" "-539" "c.909-802_1154-539del" "r.909_1153del" "p(?)" "" "0000794747" "00010022" "90" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758*)" "" "0000794749" "00010022" "90" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Trp758*)" "" "0000795062" "00010022" "90" "636" "0" "636" "0" "c.636del" "r.(?)" "p.(Glu213Argfs*18)" "6" "0000795930" "00010022" "50" "2050" "0" "2050" "0" "c.2050G>M" "r.(?)" "p.(Gly684Arg)" "13" "0000796173" "00010022" "70" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "13" "0000797093" "00010022" "70" "2143" "0" "2143" "0" "c.2143del" "r.(?)" "p.(Tyr715Thrfs*10)" "13" "0000797196" "00010022" "50" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Phe124Leu)" "" "0000798019" "00010022" "70" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Gly304Asp)" "" "0000798020" "00010022" "70" "534" "-5" "534" "-5" "c.534-5dup" "r.spl?" "p.(?)" "" "0000798021" "00010022" "70" "2890" "0" "2890" "0" "c.2890C>T" "r.(?)" "p.(Arg964*)" "" "0000800874" "00010022" "50" "2651" "0" "2651" "0" "c.2651C>G" "r.(?)" "p.(Thr884Arg)" "" "0000800875" "00010022" "90" "1589" "0" "1589" "0" "c.1589C>A" "r.(?)" "p.(Ser530*)" "" "0000800876" "00010022" "90" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Glu226*)" "" "0000811417" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000811418" "00010022" "70" "533" "4" "533" "7" "c.533+4_533+7del" "r.spl?" "p.(?)" "" "0000811419" "00010022" "70" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088*)" "" "0000811420" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000811495" "00010022" "90" "828" "1" "828" "1" "c.828+1G>A" "r.spl" "p.(?)" "" "0000812015" "00010022" "70" "1658" "0" "1658" "0" "c.1658del" "r.(?)" "p.(Val553Glyfs*3)" "13" "0000812109" "00010022" "70" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Gln495*)" "12" "0000815293" "00010022" "50" "534" "-4" "534" "-4" "c.534-4dup" "r.spl?" "p.(?)" "" "0000816260" "00010022" "50" "" "0" "" "0" "c.?" "r.spl" "p.(?)" "" "0000819448" "00010022" "70" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088*)" "" "0000819459" "00010022" "70" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000819485" "00010022" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Gly152Asp)" "" "0000819990" "00010022" "70" "188" "0" "191" "0" "c.188_191del" "r.(?)" "p.(Lys63Serfs*13)" "" "0000819991" "00010022" "70" "188" "0" "191" "0" "c.188_191del" "r.(?)" "p.(Lys63Serfs*13)" "" "0000820027" "00010022" "70" "3423" "-7" "3423" "-4" "c.3423-7_3423-4del" "r.spl?" "p.(?)" "" "0000820031" "00010022" "70" "634" "0" "634" "0" "c.634del" "r.(?)" "p.(Ser212Glnfs*19)" "" "0000820034" "00010022" "70" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088*)" "" "0000820047" "00010022" "70" "533" "4" "533" "7" "c.533+4_533+7del" "r.spl?" "p.(?)" "" "0000820135" "00010022" "70" "501" "5" "501" "5" "c.501+5G>A" "r.spl?" "p.(?)" "" "0000820223" "00010022" "70" "68" "0" "69" "0" "c.68_69dup" "r.(?)" "p.(Phe24Thrfs*5)" "" "0000820655" "00010022" "70" "1045" "0" "1045" "0" "c.1045del" "r.(?)" "p.(Tyr349Ilefs*25)" "" "0000820660" "00010022" "70" "3142" "0" "3142" "0" "c.3142C>T" "r.(?)" "p.(Arg1048Trp)" "" "0000820788" "00010022" "70" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856*)" "" "0000820791" "00010022" "70" "666" "5" "666" "5" "c.666+5G>A" "r.spl?" "p.(?)" "" "0000821019" "00010022" "70" "2807" "0" "2807" "0" "c.2807T>C" "r.(?)" "p.(Val936Ala)" "" "0000821276" "00010022" "70" "2928" "0" "2928" "0" "c.2928del" "r.(?)" "p.(Asn976Lysfs*6)" "" "0000821277" "00010022" "90" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000821278" "00010022" "90" "1680" "0" "1680" "0" "c.1680T>A" "r.(?)" "p.(Tyr560*)" "" "0000821564" "00010022" "70" "3023" "-6" "3030" "0" "c.3023-6_3030dup" "r.spl" "p.(Ala1011Phefs*2)" "" "0000822704" "00010022" "70" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Gly1008Asp)" "15" "0000826356" "00010022" "70" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "13" "0000827284" "00010022" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906*)" "13" "0000827285" "00010022" "90" "2890" "0" "2890" "0" "c.2890C>T" "r.(?)" "p.(Arg964*)" "14" "0000827286" "00010022" "90" "2143" "0" "2143" "0" "c.2143del" "r.(?)" "p.(Tyr715Thrfs*10)" "13" "0000828551" "00010022" "50" "" "0" "" "0" "c.?" "r.0?" "p.0?" "" "0000828861" "00010022" "90" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Glu226*)" "" "0000845510" "00010022" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "12" "0000850082" "00010022" "30" "3219" "0" "3219" "0" "c.3219C>T" "r.(?)" "p.(His1073=)" "" "0000850083" "00010022" "90" "2076" "0" "2076" "0" "c.2076del" "r.(?)" "p.(Asp692Glufs*9)" "" "0000850084" "00010022" "30" "1872" "0" "1872" "0" "c.1872C>T" "r.(?)" "p.(Ser624=)" "" "0000850085" "00010022" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131His)" "" "0000858737" "00010022" "30" "1679" "0" "1679" "0" "c.1679A>T" "r.(?)" "p.(Tyr560Phe)" "" "0000858738" "00010022" "90" "1565" "0" "1565" "0" "c.1565C>G" "r.(?)" "p.(Ser522*)" "" "0000868130" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868131" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868132" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868133" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868134" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868135" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868136" "00010022" "70" "189" "0" "189" "0" "c.189dup" "r.(?)" "p.(Gln64Thrfs*9)" "" "0000868137" "00010022" "70" "533" "4" "533" "7" "c.533+4_533+7del" "r.(?)" "p.?" "" "0000868138" "00010022" "70" "533" "4" "533" "7" "c.533+4_533+7del" "r.(?)" "p.?" "" "0000868139" "00010022" "70" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Arg1088*)" "" "0000881431" "00010022" "90" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Trp137*)" "" "0000881459" "00010022" "90" "3023" "-6" "3030" "0" "c.3023-6_3030dup" "r.spl" "p.(Ala1011Phefs*2)" "" "0000885460" "00010022" "70" "3423" "-7" "3423" "-4" "c.3423-7_3423-4del" "r.spl?" "p.?" "" "0000885461" "00010022" "50" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Ser753Leu)" "" "0000885462" "00010022" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Gln538*)" "" "0000885463" "00010022" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Glu272*)" "" "0000885464" "00010022" "90" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Phe108Leufs*31)" "" "0000885465" "00010022" "90" "68" "0" "68" "0" "c.68dup" "r.(?)" "p.(Asp23Glufs*29)" "" "0000896631" "00010022" "90" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Glu226Ter)" "" "0000911794" "00010022" "50" "3112" "0" "3112" "0" "c.3112T>A" "r.(?)" "p.(Cys1038Ser)" "" "0000911795" "00010022" "50" "2584" "0" "2584" "0" "c.2584G>T" "r.(?)" "p.(Val862Phe)" "" "0000911796" "00010022" "70" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276*)" "" "0000911797" "00010022" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Phe124Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 191 "{{screeningid}}" "{{variantid}}" "0000033157" "0000059940" "0000033157" "0000059941" "0000033426" "0000059942" "0000033426" "0000059943" "0000033669" "0000059944" "0000156345" "0000358267" "0000156346" "0000358268" "0000210088" "0000441257" "0000210088" "0000441258" "0000233498" "0000476206" "0000233499" "0000476207" "0000233500" "0000476208" "0000233501" "0000476209" "0000233502" "0000476210" "0000233503" "0000476211" "0000233504" "0000476212" "0000233505" "0000476213" "0000233506" "0000476214" "0000233507" "0000476215" "0000233508" "0000476216" "0000233509" "0000476217" "0000233510" "0000476218" "0000233511" "0000476219" "0000233512" "0000476220" "0000233513" "0000476221" "0000233514" "0000476222" "0000233515" "0000476223" "0000233516" "0000476224" "0000233517" "0000476225" "0000233518" "0000476226" "0000233519" "0000476227" "0000234753" "0000477461" "0000234754" "0000477462" "0000234755" "0000477463" "0000241555" "0000487565" "0000241556" "0000487566" "0000241557" "0000487567" "0000276737" "0000630870" "0000300751" "0000663587" "0000309563" "0000684428" "0000309756" "0000684629" "0000309801" "0000684674" "0000310341" "0000685252" "0000310342" "0000685253" "0000310344" "0000685255" "0000310950" "0000686094" "0000310951" "0000686095" "0000310952" "0000686096" "0000310953" "0000686097" "0000310954" "0000686098" "0000310960" "0000686104" "0000310961" "0000686105" "0000310969" "0000686113" "0000310969" "0000686114" "0000310970" "0000686115" "0000310973" "0000686118" "0000310974" "0000686119" "0000310975" "0000686120" "0000310976" "0000686121" "0000310977" "0000686122" "0000310978" "0000686123" "0000310979" "0000686124" "0000310980" "0000686125" "0000310981" "0000686126" "0000326637" "0000710229" "0000326670" "0000710262" "0000326670" "0000710348" "0000329141" "0000713264" "0000329141" "0000713690" "0000329189" "0000713312" "0000329189" "0000713710" "0000329221" "0000713344" "0000329333" "0000713456" "0000334926" "0000732933" "0000334927" "0000732934" "0000335031" "0000733040" "0000335064" "0000733073" "0000335064" "0000733537" "0000335065" "0000733074" "0000335065" "0000733538" "0000335066" "0000733075" "0000335132" "0000733141" "0000335804" "0000734714" "0000336353" "0000735628" "0000360197" "0000760012" "0000360200" "0000760018" "0000360204" "0000760039" "0000360209" "0000760064" "0000360215" "0000760090" "0000360352" "0000760244" "0000360352" "0000760467" "0000360438" "0000760330" "0000360453" "0000760345" "0000360572" "0000760604" "0000360572" "0000760613" "0000360573" "0000760605" "0000360573" "0000760614" "0000364687" "0000765562" "0000364687" "0000765599" "0000364833" "0000765775" "0000364894" "0000765836" "0000364917" "0000765859" "0000364930" "0000765872" "0000364946" "0000765888" "0000364969" "0000765911" "0000372895" "0000780182" "0000373886" "0000784536" "0000373899" "0000784345" "0000373901" "0000784382" "0000373907" "0000784503" "0000373913" "0000784499" "0000373924" "0000784237" "0000373924" "0000784316" "0000373935" "0000784248" "0000373954" "0000784267" "0000373963" "0000784570" "0000373971" "0000784465" "0000373979" "0000784543" "0000374609" "0000785401" "0000374609" "0000785409" "0000375034" "0000786043" "0000375034" "0000786567" "0000375035" "0000786044" "0000375035" "0000786568" "0000375086" "0000786353" "0000376472" "0000788080" "0000377986" "0000790588" "0000377994" "0000790444" "0000378430" "0000791185" "0000379161" "0000792271" "0000381326" "0000794727" "0000381346" "0000794747" "0000381348" "0000794749" "0000381584" "0000795062" "0000382214" "0000795930" "0000382384" "0000796173" "0000383101" "0000797093" "0000383173" "0000797196" "0000383768" "0000798019" "0000383769" "0000798020" "0000383769" "0000798021" "0000384656" "0000811417" "0000384657" "0000811418" "0000384658" "0000811419" "0000384659" "0000811420" "0000384727" "0000811495" "0000385137" "0000812015" "0000385195" "0000812109" "0000387409" "0000815293" "0000388102" "0000816260" "0000390103" "0000819448" "0000390114" "0000819459" "0000390114" "0000820655" "0000390140" "0000819485" "0000390140" "0000820660" "0000390645" "0000819990" "0000390646" "0000819991" "0000390682" "0000820027" "0000390682" "0000820788" "0000390686" "0000820031" "0000390689" "0000820034" "0000390689" "0000820791" "0000390702" "0000820047" "0000390790" "0000820135" "0000390878" "0000820223" "0000391283" "0000821019" "0000391527" "0000821276" "0000391527" "0000821564" "0000391528" "0000821277" "0000391529" "0000821278" "0000392413" "0000822704" "0000395139" "0000826356" "0000395849" "0000827284" "0000395849" "0000827285" "0000395850" "0000827286" "0000396852" "0000828551" "0000397115" "0000828861" "0000408603" "0000845510" "0000411104" "0000868130" "0000411105" "0000868131" "0000411106" "0000868132" "0000411107" "0000868133" "0000411108" "0000868134" "0000411109" "0000868135" "0000411110" "0000868136" "0000411111" "0000868137" "0000411112" "0000868138" "0000411113" "0000868139" "0000421013" "0000881431" "0000421013" "0000881459" "0000421823" "0000896631"