### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C2orf71) # 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}}" "C2orf71" "chromosome 2 open reading frame 71" "2" "p23.2" "unknown" "NC_000002.11" "UD_134408588037" "" "http://www.LOVD.nl/PCARE" "" "1" "34383" "388939" "613425" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from C2orf71 to PCARE.\r\nThis database is one of the \"Eye disease\" gene variant databases." "" "g" "http://databases.lovd.nl/shared/refseq/C2orf71_NM_001029883.2_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from C2orf71 to PCARE.\r\nThis database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-06-01 00:00:00" "00006" "2018-05-14 10:53:11" "00000" "2025-11-01 13:22:20" ## 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}}" "00003690" "C2orf71" "chromosome 2 open reading frame 71" "001" "NM_001029883.2" "" "NP_001025054.1" "" "" "" "1" "7046" "3867" "29297127" "29284556" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03333" "RP54" "retinitis pigmentosa, type 54 (RP54)" "" "613428" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "03450" "LCA6" "Leber congenital amaurosis, type 6 (LCA-6)" "AR" "613826" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C2orf71" "03333" ## Individuals ## Do not remove or alter this header ## ## Count = 258 "{{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}}" "00033125" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033146" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033161" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033171" "" "" "" "8" "" "00006" "" "4-generation family, 8 affected" "" "yes" "" "" "0" "" "" "" "" "00033172" "" "" "" "1" "" "00006" "" "4-generation family, 1 affected" "" "yes" "Spain" "" "0" "" "" "" "" "00033173" "" "" "" "1" "" "00006" "" "" "M" "yes" "Netherlands" "" "0" "" "" "" "" "00033174" "" "" "" "1" "" "00006" "" "" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033175" "" "" "" "1" "" "00006" "" "2-generation family, 4 affecteds, unaffected carriers" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033176" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "?" "" "00033177" "" "" "" "1" "" "00006" "" "" "" "no" "" "" "0" "" "" "?" "" "00033178" "" "" "" "1" "" "00006" "" "4-generation family, unaffected heterozygous RP carrier with BBS" "" "" "Spain" "" "0" "" "" "" "" "00033179" "" "" "" "1" "" "00006" "" "" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033180" "" "" "" "1" "" "00006" "" "" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033181" "" "" "" "1" "" "00006" "" "" "F" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033182" "" "" "" "5" "" "00006" "" "5 unaffected heterozygous carriers" "?" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033183" "" "" "" "1" "" "00006" "" "" "F" "yes" "Netherlands" "" "0" "" "" "" "" "00033184" "" "" "" "1" "" "00006" "" "" "M" "yes" "Netherlands" "" "0" "" "" "" "" "00033185" "" "" "" "1" "" "00006" "" "" "F" "yes" "Netherlands" "" "0" "" "" "" "" "00033186" "" "" "" "3" "" "00006" "" "3 unaffected heterozygous carriers" "?" "yes" "Netherlands" "" "0" "" "" "" "" "00033187" "" "" "" "1" "" "00006" "" "2-generation family, 4 affecteds, unaffected carriers" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033188" "" "" "" "1" "" "00006" "" "2-generation family, 4 affecteds, unaffected carriers" "F" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033189" "" "" "" "1" "" "00006" "" "2-generation family, 4 affecteds, unaffected carriers" "M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "" "00033350" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00033365" "" "" "" "1" "" "00006" "" "4-generation family, unaffected carriers" "" "yes" "" "" "0" "" "" "" "" "00033366" "" "" "" "3" "" "00006" "" "4-generation family, 3 unaffected heterozygous carriers" "" "yes" "Spain" "" "0" "" "" "" "" "00033600" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "Pat2bl" "00033608" "" "" "" "1" "" "00244" "" "" "" "yes" "Spain" "" "0" "" "" "" "" "00033609" "" "" "" "1" "" "01243" "" "" "M" "no" "Israel" "" "0" "" "" "" "" "00052946" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "?" "?" "United States" "" "0" "" "" "" "CaseV" "00060215" "" "" "" "1" "" "01251" "{PMID:Liu 2016:27029556}, {DOI:Liu 2016:10.3109/13816810.2016.1151898}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "" "00104995" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "?" "Spain" "" "0" "" "" "" "55ORG" "00155394" "" "" "" "4" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Iran;Jewish" "" "00155395" "" "" "" "2" "" "01243" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "M" "no" "Israel" "" "0" "" "" "Iran;Jewish;Turkey;Jewish" "MOL0425" "00155396" "" "" "" "2" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "M" "no" "Israel" "" "0" "" "" "Jewish" "MOL0331" "00155397" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Ethiopia;Jewish" "" "00155398" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab Christian" "" "00173892" "" "" "" "1" "" "02449" "{PMID:Wang 2014b:25097241}" "" "F" "" "United States" "" "0" "" "" "" "31" "00232255" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232256" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232257" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232258" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232259" "" "" "" "591" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232260" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232261" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232262" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232263" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232264" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232265" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232266" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232267" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232268" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232269" "" "" "" "1203" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232270" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232271" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232272" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232273" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232274" "" "" "" "11" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232275" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232276" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232277" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232278" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232279" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232280" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232281" "" "" "" "227" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232282" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232283" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232284" "" "" "" "496" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232285" "" "" "" "125" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232286" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232287" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232288" "" "" "" "491" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232289" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232290" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232291" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232292" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232293" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233633" "" "" "" "250" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233634" "" "" "" "15" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233635" "" "" "" "125" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233636" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233637" "" "" "" "123" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233638" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00234409" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292706" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292707" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292708" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292709" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300246" "" "" "" "3" "" "00006" "{PMID:Wang 2017:28837730}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "Fam" "00308403" "" "" "" "4" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "4-generation family, 4 affected (3F, M)" "F" "yes" "France" "" "0" "" "" "" "CIC01571" "00308404" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC00643" "00308989" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00308991" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00308992" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00308993" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308994" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308995" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308996" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309549" "" "" "00309548" "3" "" "00006" "{PMID:Khateb 2014:24780881}" "3 affected sibs (2F, M)" "" "" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII3/4/7" "00309550" "" "" "00309548" "3" "" "00006" "{PMID:Khateb 2014:24780881}" "3 affected sibs (F, 2M)" "F;M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII1/5/6" "00309551" "" "" "00309548" "1" "" "00006" "{PMID:Khateb 2014:24780881}" "1 affected" "M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII2" "00309552" "" "" "00309548" "1" "" "00006" "{PMID:Khateb 2014:24780881}" "father" "M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatI" "00309820" "" "" "" "1" "" "00006" "{PMID:Bocquet 2013:24339724}" "2-generation family, 1 affected" "F" "yes" "France" "" "0" "" "" "" "RP1013" "00309836" "" "" "" "1" "" "00006" "{PMID:Shah 2018:30300315}" "" "F" "" "United States" "" "0" "" "" "white" "" "00325466" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3356" "00325474" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3520" "00327971" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G000983" "00328190" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007691" "00332131" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00333419" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD1–12" "00335260" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat100" "00335958" "" "" "" "5" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358953" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70052" "00358954" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71688" "00358955" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29870" "00358956" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71703" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00359327" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "30787" "00362221" "" "" "" "6" "" "04043" "{PMID:Fadaie 2021:34795310}" "family, 6 affected" "" "" "Ireland" "" "0" "" "" "" "Pat20" "00363514" "" "" "" "1" "" "00000" "{PMID:Yang 2015:26496393}" "family" "M" "" "China" "" "0" "" "" "Han" "RP89" "00363526" "" "" "" "2" "" "00000" "{PMID:Beheshtian 2015:26497376}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "9300046/I-40320" "00363696" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0950" "00368958" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "M" "?" "United States" "" "0" "" "" "" "5" "00372624" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP209" "00372638" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP305" "00372641" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP021" "00372659" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP377" "00372662" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP315" "00372665" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP313" "00372689" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP109" "00372694" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP301" "00372702" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "QT367" "00372719" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP276" "00372747" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP368" "00373518" "" "" "" "3" "" "00000" "{PMID:Gonzalez-del Pozo 2014:25544989}" "3-generation family, 3 affected (3F)" "F" "yes" "Spain" "" "0" "" "" "" "RP255PatII4" "00374981" "" "" "" "2" "" "00000" "{PMID:Sanchez-Alcudia 2014:25342620}" "3-generation family, affect aunt/nephew" "M" "" "Spain" "" "0" "" "" "" "RP-0622PatII1" "00375294" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6307" "00375295" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6439" "00375419" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#011" "00375420" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#012" "00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00376761" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "23" "00376770" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "34" "00376790" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "57" "00376792" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "59" "00376867" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "yes" "Belgium" "" "0" "" "" "" "Fam17" "00377532" "" "" "" "1" "" "04521" "{PMID:Hosono 2018:29844330}, Torii 2023, submitted" "proband, family EYE149" "M" "no" "Japan" "" "0" "" "" "Japanese" "EYE149" "00379373" "" "" "" "1" "" "00000" "{PMID:Hebrard-2011:21792230}" "sister of RP1459 (II.1)" "F" "no" "" "" "0" "" "" "French" "" "00379374" "" "" "" "1" "" "00000" "{PMID:Hebrard-2011:21792230}" "sister of RP1459 (II.2)" "F" "no" "" "" "0" "" "" "French" "" "00379815" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016061402" "00380134" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Iraq" "" "0" "" "" "" "12DG0758" "00380139" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Egypt" "" "0" "" "" "" "13DG1022" "00380372" "" "" "" "1" "" "00000" "{PMID:Bocquet-2013:23350551}" "" "" "yes" "France" "" "0" "" "" "" "" "00380994" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381012" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381039" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00381066" "" "" "" "2" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381067" "" "" "" "2" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381166" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00381595" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00381645" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Congo" "" "0" "" "" "" "" "00381650" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00381656" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00382237" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "66" "00382499" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "361" "00383452" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383756" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070006_A" "00383791" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184073_B" "00383844" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383988" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1401" "00384104" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2319" "00385411" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F22-II-1" "00386189" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-303" "00386206" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-326" "00386284" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-97, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-230" "00387619" "" "" "" "1" "" "00000" "{PMID:Liu 2017:27029556}" "" "" "" "" "" "0" "" "" "" "" "00388498" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13009597" "00389347" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 226, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "631" "00389348" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 226, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "632" "00389399" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 248, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "683" "00389506" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 308, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "790" "00389609" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 374, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "893" "00389610" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 375, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "894" "00389622" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 383, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "906" "00389786" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 681, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1070" "00389787" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 686, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1071" "00389804" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 724, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1088" "00389805" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 724, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1089" "00389816" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 739, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1100" "00389971" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1040, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1255" "00390181" "" "" "" "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" "" "" "" "G000983" "00390182" "" "" "" "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" "" "" "" "G007691" "00390728" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F10, patient II.1" "F" "" "Tunisia" "" "0" "" "" "" "F10_II.1" "00390729" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F10, patient II.2" "M" "" "Tunisia" "" "0" "" "" "" "F10_II.2" "00390730" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F10, patient II.3" "M" "" "Tunisia" "" "0" "" "" "" "F10_II.3" "00391007" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00391359" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "15" "00392626" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "99" "00393480" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393571" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "yes" "" "" "0" "" "" "" "" "00394543" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00399788" "" "" "" "1" "" "00000" "{PMID:Bhatia 2019:30851773}" "" "F" "yes" "" "" "0" "" "" "India" "IV:1" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00407356" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-95" "00407358" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-83" "00411348" "" "" "" "2" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 2 affected" "M" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam19Pat1" "00411349" "" "" "00411348" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "sib" "M" "" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam19Pat2" "00411655" "" "" "" "1" "" "00000" "{PMID:Audo 2011:21412943}" "" "F" "" "France" "" "0" "" "" "French" "Family 180 (II-1)" "00411656" "" "" "" "1" "" "00000" "{PMID:Audo 2011:21412943}" "" "F" "" "France" "" "0" "" "" "French" "Family 180 (II-1)" "00411657" "" "" "" "1" "" "00000" "{PMID:Audo 2011:21412943}" "One brother with RP" "M" "" "France" "" "0" "" "" "French" "Family 927 (II-3)" "00411658" "" "" "" "1" "" "00000" "{PMID:Audo 2011:21412943}" "One brother with RP" "M" "" "France" "" "0" "" "" "French" "Family 927 (II-3)" "00411660" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Swiss" "Fam1- 1" "00411661" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Swiss" "Fam1- 2" "00411662" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Swiss" "Fam2- 3" "00411663" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Swiss" "Fam2- 4" "00411664" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Kosovo" "Fam3- 5" "00411665" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Croatia" "Fam4- 6" "00411666" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Italian" "Fam5- 7" "00411667" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Caucasian" "Fam6- 8" "00411668" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Caucasian?" "Fam7- 9" "00411669" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Caucasian/Native-American" "Fam8- 10" "00411670" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "M" "" "" "" "0" "" "" "Lebanese/Armenian" "Fam9- 11" "00411671" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "" "" "" "0" "" "" "Korean" "Fam10- 12" "00411672" "" "" "" "1" "" "00000" "{PMID:Gerth Kahlert 2017:28763557}" "" "F" "yes" "" "" "0" "" "" "N/A" "Fam11- 13" "00411673" "" "" "" "1" "" "00000" "{PMID:Serra 2019:31819343}" "" "M" "" "Italy" "" "0" "" "" "Italian" "II.1" "00419710" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070910" "00429539" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "" "" "" "" "0" "" "" "" "" "00429540" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429623" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429704" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429715" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429755" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429779" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429797" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429888" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429970" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "" "" "" "" "0" "" "" "" "" "00429982" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430012" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00435631" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Pakistan" "" "0" "" "" "" "Pat3" "00447009" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-475" "00447087" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-773" "00447109" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-821" "00447110" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-822" "00447115" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-829" "00447696" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-368" "00450896" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066779" "00450897" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066819" "00450898" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070626" "00450899" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070794" "00450900" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070890" "00450901" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072154" "00450902" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072790" "00450903" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073207" "00450904" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073212" "00450905" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073383" "00450906" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "074649" "00450907" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "080620" "00461110" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat45" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 258 "{{individualid}}" "{{diseaseid}}" "00033125" "04214" "00033146" "04214" "00033161" "04214" "00033171" "04214" "00033172" "04214" "00033173" "04214" "00033174" "04214" "00033175" "04214" "00033176" "04214" "00033177" "00000" "00033178" "04211" "00033179" "04214" "00033180" "04214" "00033181" "04214" "00033182" "00000" "00033183" "04214" "00033184" "04214" "00033185" "04214" "00033186" "00000" "00033187" "04214" "00033188" "04214" "00033189" "04214" "00033350" "04214" "00033365" "00000" "00033366" "04214" "00033600" "04214" "00033608" "04214" "00033609" "04214" "00052946" "04214" "00060215" "04214" "00104995" "00058" "00155394" "04214" "00155395" "04214" "00155396" "04214" "00155397" "04214" "00155398" "04210" "00173892" "00058" "00232255" "04214" "00232256" "04214" "00232257" "04214" "00232258" "04214" "00232259" "04214" "00232260" "04214" "00232261" "04214" "00232262" "04214" "00232263" "04214" "00232264" "04214" "00232265" "04214" "00232266" "04214" "00232267" "04214" "00232268" "04214" "00232269" "04214" "00232270" "04214" "00232271" "04214" "00232272" "04214" "00232273" "04214" "00232274" "04214" "00232275" "04214" "00232276" "04214" "00232277" "04214" "00232278" "04214" "00232279" "04214" "00232280" "04214" "00232281" "04214" "00232282" "04214" "00232283" "04214" "00232284" "04214" "00232285" "04214" "00232286" "04214" "00232287" "04214" "00232288" "04214" "00232289" "04214" "00232290" "04214" "00232291" "04214" "00232292" "04214" "00232293" "04214" "00233633" "04214" "00233634" "04214" "00233635" "04214" "00233636" "04214" "00233637" "04214" "00233638" "04214" "00234409" "00198" "00292706" "00198" "00292707" "00198" "00292708" "00198" "00292709" "00198" "00300246" "00244" "00308403" "04214" "00308404" "04214" "00308989" "04214" "00308991" "04214" "00308992" "04214" "00308993" "04214" "00308994" "04214" "00308995" "04214" "00308996" "04214" "00309549" "00198" "00309550" "00198" "00309551" "00198" "00309552" "00198" "00309820" "04214" "00309836" "04214" "00325466" "04214" "00325474" "04214" "00327971" "04214" "00328190" "04214" "00332131" "00198" "00333419" "04214" "00335260" "04214" "00335958" "04214" "00358953" "04214" "00358954" "04214" "00358955" "04214" "00358956" "04214" "00358957" "04214" "00359327" "04214" "00362221" "04214" "00363514" "04214" "00363526" "04214" "00363696" "04214" "00368958" "04214" "00372624" "04214" "00372638" "04214" "00372641" "04214" "00372659" "04214" "00372662" "04214" "00372665" "04214" "00372689" "04214" "00372694" "04214" "00372702" "04214" "00372719" "04214" "00372747" "04214" "00373518" "04214" "00374981" "04214" "00375294" "04214" "00375295" "04214" "00375419" "04214" "00375420" "04214" "00375432" "04214" "00375435" "04214" "00376761" "04214" "00376770" "04214" "00376790" "04214" "00376792" "04214" "00376867" "04214" "00377532" "03450" "00379373" "04214" "00379374" "04214" "00379815" "04214" "00380134" "04214" "00380139" "04214" "00380372" "04214" "00380994" "04214" "00381012" "04214" "00381039" "04214" "00381066" "04214" "00381067" "04214" "00381166" "04214" "00381595" "04214" "00381645" "04214" "00381650" "04214" "00381656" "04214" "00382237" "04214" "00382499" "04214" "00383452" "04214" "00383756" "04214" "00383791" "04214" "00383844" "04214" "00383988" "04214" "00384104" "04214" "00385411" "04214" "00386189" "04214" "00386206" "04214" "00386284" "04214" "00387619" "04214" "00388498" "04214" "00389347" "04214" "00389348" "04214" "00389399" "04214" "00389506" "04214" "00389609" "04214" "00389610" "04214" "00389622" "04214" "00389786" "04214" "00389787" "04214" "00389804" "04214" "00389805" "04214" "00389816" "04214" "00389971" "04214" "00390181" "04214" "00390182" "04214" "00390728" "04214" "00390729" "04214" "00390730" "04214" "00391007" "04214" "00391359" "04214" "00392626" "04214" "00393480" "04214" "00393571" "04214" "00394543" "04214" "00399788" "04214" "00407355" "04214" "00407356" "04214" "00407358" "04214" "00411348" "03333" "00411349" "03333" "00411655" "04214" "00411656" "04214" "00411657" "04214" "00411658" "04214" "00411660" "04214" "00411661" "04214" "00411662" "04214" "00411663" "04214" "00411664" "04214" "00411665" "04214" "00411666" "04214" "00411667" "04214" "00411668" "04214" "00411669" "04214" "00411670" "04214" "00411671" "04214" "00411672" "04214" "00411673" "04214" "00419710" "04214" "00429539" "00112" "00429540" "00112" "00429623" "00112" "00429704" "00112" "00429715" "00112" "00429755" "00112" "00429779" "00112" "00429797" "00112" "00429888" "00112" "00429970" "00112" "00429982" "00112" "00430012" "00112" "00435631" "05611" "00447009" "00198" "00447087" "00198" "00447109" "00198" "00447110" "00198" "00447115" "00198" "00447696" "00198" "00450896" "04249" "00450897" "04249" "00450898" "04249" "00450899" "04249" "00450900" "04249" "00450901" "04249" "00450902" "04249" "00450903" "04249" "00450904" "04249" "00450905" "04249" "00450906" "04249" "00450907" "04249" "00461110" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00244, 03333, 03450, 04210, 04211, 04214, 04249, 05611 ## Count = 207 "{{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}}" "0000026554" "04214" "00033125" "00229" "Unknown" "5y" "early onset; mild intellectual disability, obesitas" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026575" "04214" "00033146" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026590" "04214" "00033161" "00229" "Unknown" "1y" "lumped pigmentary retinal degeneration, early onset; ferriprive anemia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026600" "04214" "00033171" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026601" "04214" "00033172" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026602" "04214" "00033173" "00006" "Isolated (sporadic)" "" "Cornea dystrophy, albinism." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026603" "04214" "00033174" "00006" "Isolated (sporadic)" "" "Myopia; astigmatism." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026604" "04214" "00033175" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026605" "04214" "00033176" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026606" "00000" "00033177" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026607" "04211" "00033178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026608" "04214" "00033179" "00006" "Isolated (sporadic)" "" "Myopia; astigmatism." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026609" "04214" "00033180" "00006" "Isolated (sporadic)" "" "Myopia (R ¿8.5, L ≠ 6); astigmatism." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026610" "04214" "00033181" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026611" "00000" "00033182" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026612" "04214" "00033183" "00006" "Isolated (sporadic)" "" "Cornea dystrophy. Visual field: pericentral annular defects." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026613" "04214" "00033184" "00006" "Isolated (sporadic)" "" "Corneal dystrophy. Visual field: ringscotomas (at age 41)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026614" "04214" "00033185" "00006" "Isolated (sporadic)" "" "Subcapsular posterior cataract." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026615" "00000" "00033186" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026616" "04214" "00033187" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026617" "04214" "00033188" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026618" "04214" "00033189" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026779" "04214" "00033350" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026794" "00000" "00033365" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026795" "04214" "00033366" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027029" "04214" "00033600" "00130" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027037" "04214" "00033608" "00244" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027038" "04214" "00033609" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039523" "04214" "00052946" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000046705" "04214" "00060215" "01251" "Complex" "" "di-genic inheritance; atypical retinitis pigmentosa; unilateral (left side) vestibular areflexia, tremor, low normal intelligence, anxiety, some obsessive behavior" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000082886" "00058" "00104995" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127894" "04214" "00155394" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127895" "04214" "00155395" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127896" "04214" "00155396" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127897" "04214" "00155397" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127898" "04210" "00155398" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000138745" "00058" "00173892" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "conr-rod dystrophy" "" "0000174818" "00198" "00234409" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000227548" "00244" "00300246" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "myopia" "" "0000233830" "04214" "00308403" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233831" "04214" "00308404" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000234309" "04214" "00308989" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234311" "04214" "00308991" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234312" "04214" "00308992" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234313" "04214" "00308993" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234314" "04214" "00308994" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000234315" "04214" "00308995" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234316" "04214" "00308996" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234869" "00198" "00309550" "00006" "Familial, autosomal recessive" "" "see paper; early onset hearing loss, relatively mild retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "" "0000234870" "00198" "00309549" "00006" "Familial, autosomal recessive" "" "see paper; early onset severe hearing loss, early onset severe retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "" "0000234871" "00198" "00309551" "00006" "Di-genic" "" "see paper; ..., mild hearing problems" "" "" "" "" "" "" "" "" "" "" "" "0000234872" "00198" "00309552" "00006" "Familial, autosomal recessive" "" "see paper; age-related hearing problems, relatively mild retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "" "0000235134" "04214" "00309820" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RPA" "retinitis pigmentosa" "" "0000235150" "04214" "00309836" "00006" "Unknown" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000243953" "04214" "00325466" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243961" "04214" "00325474" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246198" "04214" "00327971" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246417" "04214" "00328190" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250322" "00198" "00332131" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000251606" "04214" "00333419" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CRD" "" "0000252975" "04214" "00335260" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253873" "04214" "00335958" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254251" "04214" "00358953" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254252" "04214" "00358954" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254253" "04214" "00358955" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254254" "04214" "00358956" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254623" "04214" "00359327" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000257635" "04214" "00362221" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258864" "04214" "00363514" "00000" "Familial, autosomal recessive" "45y" "childhood onset; visual acuity R light perception, L light perception; bilateral retinal vascular attenuation, bone spicule like pigmentation throughout the fundus, chorioretinal degeneration, pale optic disc" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258875" "04214" "00363526" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259046" "04214" "00363696" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" "" "0000264296" "04214" "00368958" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" "" "0000267903" "04214" "00372624" "00000" "Isolated (sporadic)" "41y" "see paper; ..." "31y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267917" "04214" "00372638" "00000" "Isolated (sporadic)" "24y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267920" "04214" "00372641" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267938" "04214" "00372659" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "17y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267941" "04214" "00372662" "00000" "Familial, autosomal recessive" "54y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267944" "04214" "00372665" "00000" "Familial, autosomal recessive" "45y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267968" "04214" "00372689" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267973" "04214" "00372694" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267981" "04214" "00372702" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267998" "04214" "00372719" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268026" "04214" "00372747" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268794" "04214" "00373518" "00000" "Familial, autosomal recessive" "38y" "night blindness, visual field constriction, decreased visual acuity, photophobia and abnormal color vision; pale optic nerve disc, narrowed blood vessels and bone spicule pigmentation in periphery" "12y" "" "night blindness" "" "" "" "" "" "" "retinal dystrophy" "" "0000270191" "04214" "00374981" "00000" "Familial, autosomal recessive" "27y" "18y-night blindenss, diminished visual acuity (25y) and visual field (26y); best corrected visual acuity 0.4/0.1; ERG-bolished; pale optic disc, retina vessels attenuation and bone spicule pigmentation, macular unstructured and atrophy in left macula; color alteration, cataract (27y)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270508" "04214" "00375294" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270509" "04214" "00375295" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270633" "04214" "00375419" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270634" "04214" "00375420" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271972" "04214" "00376761" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271981" "04214" "00376770" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "Peripheral dystrophy" "" "0000272001" "04214" "00376790" "00000" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272003" "04214" "00376792" "00000" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272078" "04214" "00376867" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272682" "04214" "00377532" "04521" "Isolated (sporadic)" "" "see paper; ..., Leber congenital amaurosis" "" "" "" "" "" "" "" "" "LCA" "retinal disease" "" "0000273246" "04214" "00379373" "00000" "Familial, autosomal recessive" "" "moderate dyschromatopsia since early childhood, moderate night blindness and photophobia" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000273247" "04214" "00379374" "00000" "Familial, autosomal recessive" "" "moderate dyschromatopsia and night blindness since early childhood" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000273669" "04214" "00379815" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000273989" "04214" "00380134" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273994" "04214" "00380139" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000274223" "04214" "00380372" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274845" "04214" "00380994" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274863" "04214" "00381012" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274890" "04214" "00381039" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274917" "04214" "00381066" "00000" "Familial, autosomal recessive" "48y" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000274918" "04214" "00381067" "00000" "Familial, autosomal recessive" "41y" "Dense cataracts" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000275017" "04214" "00381166" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275437" "04214" "00381595" "00000" "Isolated (sporadic)" "" "" "44y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275487" "04214" "00381645" "00000" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275492" "04214" "00381650" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275498" "04214" "00381656" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000276086" "04214" "00382237" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276348" "04214" "00382499" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277237" "04214" "00383452" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277541" "04214" "00383756" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277576" "04214" "00383791" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277629" "04214" "00383844" "00000" "Familial, autosomal recessive" "58y" "BCVA OD-OS: 20/20-20/25" "" "50y" "" "" "" "" "" "" "" "" "" "0000277773" "04214" "00383988" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277889" "04214" "00384104" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000279207" "04214" "00385411" "00000" "Familial, autosomal recessive" "23y" "23" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279992" "04214" "00386189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280009" "04214" "00386206" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000280087" "04214" "00386284" "00000" "Familial, X-linked dominant" "52y" "" "" "15y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000281182" "04214" "00387619" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000282050" "04214" "00388498" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282888" "04214" "00389347" "00000" "Familial, autosomal recessive" "67y" "age at genetic diagnosis mentioned" "" "59y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282889" "04214" "00389348" "00000" "Familial, autosomal recessive" "59y" "age at genetic diagnosis mentioned" "" "52y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282940" "04214" "00389399" "00000" "Familial, autosomal recessive" "52y" "age at genetic diagnosis mentioned" "" "46y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283047" "04214" "00389506" "00000" "Familial, autosomal recessive" "41y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283150" "04214" "00389609" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283151" "04214" "00389610" "00000" "Familial, autosomal recessive" "39y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283163" "04214" "00389622" "00000" "Isolated (sporadic)" "38y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283327" "04214" "00389786" "00000" "Isolated (sporadic)" "70y" "age at genetic diagnosis mentioned" "" "70y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283328" "04214" "00389787" "00000" "Familial, autosomal recessive" "49y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283345" "04214" "00389804" "00000" "Familial, autosomal recessive" "45y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283346" "04214" "00389805" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "31y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283357" "04214" "00389816" "00000" "Isolated (sporadic)" "56y" "age at genetic diagnosis mentioned" "" "48y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283512" "04214" "00389971" "00000" "Isolated (sporadic)" "30y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283719" "04214" "00390181" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283720" "04214" "00390182" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284216" "04214" "00390728" "00000" "Familial, autosomal recessive" "43y" "Visual acuity right eye/left eye: 1/10_2/10, symmetrical cloverleaf maculopathy with patchy circular midperipheral RPE atrophy and nummular pigment deposits, macular atrophy, altered cone and rods erg predominating on photopic responses" "18y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000284217" "04214" "00390729" "00000" "Familial, autosomal recessive" "48y" "Visual acuity right eye/left eye: 3/10_3/10" "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000284218" "04214" "00390730" "00000" "Familial, autosomal recessive" "62y" "Visual acuity right eye/left eye: light perception_light perception" "14y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000284495" "04214" "00391007" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284799" "04214" "00391359" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 54 (613428)" "Retinitis pigmentosa 54 (613428)" "" "0000285873" "04214" "00392626" "00000" "Familial, autosomal recessive" "" "initial diagnosis of autosomal recessive cone-rod dystrophy redifined to retinitis pigmentosa" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "cone-rod dystrophy" "" "0000286686" "04214" "00393480" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286777" "04214" "00393571" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287746" "04214" "00394543" "00000" "Familial, autosomal recessive" "68y" "" "49y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000292888" "04214" "00399788" "00000" "Familial, autosomal recessive" "18y" "attenuated retinal bloodvessels and diffuse temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex" "" "" "" "" "" "" "" "" "" "rod cone dystrophy (arRCD)" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299710" "04214" "00407356" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299712" "04214" "00407358" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000303682" "04214" "00411655" "00000" "Familial, autosomal recessive" "35y" "Night blindness at 18; visual field constriction and decreased vision (refractive surgery for myopia) at 25y, Tritanopia at the 28 Hue of Roth. Little pigmentation in retinal periphery, some optic disc pallor and narrowed retinal vessels, macular atrophic changes" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303683" "04214" "00411656" "00000" "Familial, autosomal recessive" "35y" "Night blindness at 18; visual field constriction and decreased vision (refractive surgery for myopia) at 25y, Tritanopia at the 28 Hue of Roth. Little pigmentation in retinal periphery, some optic disc pallor and narrowed retinal vessels, macular atrophic changes" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303684" "04214" "00411657" "00000" "Familial, autosomal recessive" "44y" "Life long night blindness and decreased vision. Marked atrophic changes in the posterior pole" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303685" "04214" "00411658" "00000" "Familial, autosomal recessive" "44y" "Life long night blindness and decreased vision. Marked atrophic changes in the posterior pole" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303687" "04214" "00411660" "00000" "Familial, autosomal recessive" "23y" "Midperipheral RPE atrophy; Macular speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303688" "04214" "00411661" "00000" "Familial, autosomal recessive" "25y" "Midperipheral RPE atrophy; Perifoveal and midperipheral speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303689" "04214" "00411662" "00000" "Familial, autosomal recessive" "46y" "Midperipheral partially circular RPE atrophy; Macular large hypo-AF area, speckled hypo-/hyper-AF reaching outside vascular arcade N/A" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303690" "04214" "00411663" "00000" "Familial, autosomal recessive" "50y" "Large patches of hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303691" "04214" "00411664" "00000" "Familial, autosomal recessive" "32y" "Macular and midperipheral speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303692" "04214" "00411665" "00000" "Familial, autosomal recessive" "33y" "Midperipheral atrophy, some bony spicules" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303693" "04214" "00411666" "00000" "Familial, autosomal recessive" "44y" "Severe peripheral atrophy with pigment; Macular and midperipheral speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303694" "04214" "00411667" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303695" "04214" "00411668" "00000" "Familial, autosomal recessive" "47y" "Inferior circular chorioretinal atrophy, hypopigmented spots throughout fundus, waxy pallor of optic nerve head; Macular and nasal patchy hypo AF reaching to the vascular arcades" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303696" "04214" "00411669" "00000" "Familial, autosomal recessive" "22y" "Midperipheral yellow/ white deposit with sparse pigment; Perifoveal speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303697" "04214" "00411670" "00000" "Familial, autosomal recessive" "17y" "Perifoveal speckled hypo/ hyper AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303698" "04214" "00411671" "00000" "Familial, autosomal recessive" "44y" "Scattered deep punctate deposits and patchy atrophy; Macular: large hypo AF area, sparing small patch in center peripheral: speckled hypo-/hyper-AF, sparing the midperiphery" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303699" "04214" "00411672" "00000" "Familial, autosomal recessive" "20y" "Midperipheral atrophy, some bony spicules; Peripheral speckled hypo AF" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (arRP)" "" "0000303700" "04214" "00411673" "00000" "Familial, autosomal recessive" "45y" "subacute visual loss and central scotoma in both eyes; horoidal and RPE atrophy surrounding the fovea in the left eye and small white patches of atrophy around the fovea in the right eye; marked impairment in visual function, secondary to severe atrophic maculopathy associated with sparse pigmentary deposits." "25y" "" "" "" "" "" "" "" "" "Cone rod-dystrophy (CRD)" "" "0000310990" "04214" "00419710" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000320411" "00112" "00429539" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320412" "00112" "00429540" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320495" "00112" "00429623" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320576" "00112" "00429704" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320587" "00112" "00429715" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320627" "00112" "00429755" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320651" "00112" "00429779" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320669" "00112" "00429797" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320760" "00112" "00429888" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320842" "00112" "00429970" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320854" "00112" "00429982" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320884" "00112" "00430012" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325815" "05611" "00435631" "00006" "Isolated (sporadic)" "10y" "see paper; ..., motor delay; no speech; intellectual disability; seizures; mild myopia; hypotonia; MRI brain abnormal white matter signal (hypomyelination); no; prominent maxilla/upper lip; micrognathia; long ears" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000336208" "00198" "00447009" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336286" "00198" "00447087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336308" "00198" "00447109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336309" "00198" "00447110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336314" "00198" "00447115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336895" "00198" "00447696" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339951" "04249" "00450896" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339952" "04249" "00450897" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339953" "04249" "00450898" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339954" "04249" "00450899" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339955" "04249" "00450900" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339956" "04249" "00450901" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339957" "04249" "00450902" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339958" "04249" "00450903" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339959" "04249" "00450904" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339960" "04249" "00450905" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (AR)" "" "0000339961" "04249" "00450906" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339962" "04249" "00450907" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000348610" "04214" "00461110" "00006" "Familial, autosomal recessive" "" "" "04y-05y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 258 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033193" "00033125" "1" "00229" "00229" "2012-02-13 08:16:28" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033214" "00033146" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033229" "00033161" "1" "00229" "00229" "2012-02-04 15:13:24" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033239" "00033171" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033240" "00033172" "1" "00006" "00006" "2010-06-10 22:04:31" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033241" "00033173" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033242" "00033174" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033243" "00033175" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033244" "00033176" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033245" "00033177" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033246" "00033178" "1" "00006" "00006" "2010-06-10 22:03:07" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033247" "00033179" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033248" "00033180" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033249" "00033181" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033250" "00033182" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033251" "00033183" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033252" "00033184" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033253" "00033185" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033254" "00033186" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033255" "00033187" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033256" "00033188" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033257" "00033189" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033418" "00033350" "1" "00039" "00039" "2012-09-18 14:03:19" "" "" "SEQ" "DNA" "" "" "0000033433" "00033365" "1" "00006" "00006" "2010-06-10 21:59:53" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033434" "00033366" "1" "00006" "00006" "2010-06-10 22:04:31" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033668" "00033600" "1" "00130" "00130" "2013-10-01 11:01:51" "" "" "SEQ" "DNA" "" "" "0000033676" "00033608" "1" "00244" "00244" "2013-12-04 17:14:23" "00006" "2013-12-22 11:30:44" "PCR" "DNA" "" "" "0000033677" "00033609" "1" "01243" "01243" "2013-12-22 09:40:53" "00006" "2013-12-22 11:34:05" "arraySEQ" "DNA" "" "" "0000052894" "00052946" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000060202" "00060215" "1" "01251" "01251" "2015-01-19 14:58:04" "00006" "2016-04-16 16:28:10" "SEQ-NG-S" "DNA" "" "" "0000105468" "00104995" "1" "01244" "01244" "2017-06-14 16:09:17" "" "" "SEQ-NG-I" "DNA" "Whole blood" "" "0000156259" "00155394" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156260" "00155395" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156261" "00155396" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156262" "00155397" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156263" "00155398" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000174782" "00173892" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000233354" "00232255" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233355" "00232256" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233356" "00232257" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233357" "00232258" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233358" "00232259" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233359" "00232260" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233360" "00232261" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233361" "00232262" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233362" "00232263" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233363" "00232264" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233364" "00232265" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233365" "00232266" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233366" "00232267" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233367" "00232268" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233368" "00232269" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233369" "00232270" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233370" "00232271" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233371" "00232272" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233372" "00232273" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233373" "00232274" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233374" "00232275" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233375" "00232276" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233376" "00232277" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233377" "00232278" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233378" "00232279" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233379" "00232280" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233380" "00232281" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233381" "00232282" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233382" "00232283" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233383" "00232284" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233384" "00232285" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233385" "00232286" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233386" "00232287" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233387" "00232288" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233388" "00232289" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233389" "00232290" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233390" "00232291" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233391" "00232292" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233392" "00232293" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234732" "00233633" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234733" "00233634" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234734" "00233635" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234735" "00233636" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234736" "00233637" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234737" "00233638" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000235512" "00234409" "1" "01807" "01807" "2019-05-17 09:46:50" "" "" "SEQ" "DNA" "" "" "0000293874" "00292706" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293875" "00292707" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293876" "00292708" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293877" "00292709" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301364" "00300246" "1" "00006" "00006" "2020-04-24 14:53:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309547" "00308403" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309548" "00308404" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000310134" "00308989" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310136" "00308991" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310137" "00308992" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310138" "00308993" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310139" "00308994" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310140" "00308995" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310141" "00308996" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310694" "00309549" "1" "00006" "00006" "2020-08-29 08:43:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310695" "00309550" "1" "00006" "00006" "2020-08-29 08:48:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310696" "00309551" "1" "00006" "00006" "2020-08-29 08:56:27" "" "" "SEQ" "DNA" "" "" "0000310697" "00309552" "1" "00006" "00006" "2020-08-29 09:00:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310965" "00309820" "1" "00006" "00006" "2020-09-03 19:48:29" "" "" "SEQ" "DNA" "" "" "0000310981" "00309836" "1" "00006" "00006" "2020-09-04 09:03:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326677" "00325466" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326685" "00325474" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329186" "00327971" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329405" "00328190" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000333351" "00332131" "1" "01807" "01807" "2021-02-15 10:57:01" "00001" "2021-02-15 10:58:49" "SEQ" "DNA" "" "" "0000334644" "00333419" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000336489" "00335260" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000337188" "00335958" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360190" "00358953" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360191" "00358954" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360192" "00358955" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360193" "00358956" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360568" "00359327" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000363450" "00362221" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000364742" "00363514" "1" "00000" "00006" "2021-04-29 10:58:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364754" "00363526" "1" "00000" "00006" "2021-04-29 12:09:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364924" "00363696" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000370186" "00368958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373856" "00372624" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373870" "00372638" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373873" "00372641" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373891" "00372659" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373894" "00372662" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373897" "00372665" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373921" "00372689" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373926" "00372694" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373934" "00372702" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373951" "00372719" "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" "0000374753" "00373518" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000376175" "00374981" "1" "00000" "00006" "2021-05-27 16:02:07" "" "" "SEQ" "DNA" "" "" "0000376491" "00375294" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376492" "00375295" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376616" "00375419" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376617" "00375420" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377967" "00376761" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377976" "00376770" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377996" "00376790" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377998" "00376792" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378072" "00376867" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000378735" "00377532" "1" "04521" "03840" "2021-07-22 15:35:32" "00006" "2023-06-13 22:57:42" "SEQ;SEQ-NG" "DNA" "blood" "Targeted next-generation sequencing" "0000380573" "00379373" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "PCR;SEQ; arraySNP" "DNA" "blood" "" "0000380574" "00379374" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "PCR;SEQ; arraySNP" "DNA" "blood" "" "0000381017" "00379815" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381336" "00380134" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381341" "00380139" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381586" "00380372" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000382208" "00380994" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382226" "00381012" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382253" "00381039" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382280" "00381066" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382281" "00381067" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382381" "00381166" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000382811" "00381595" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382861" "00381645" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382866" "00381650" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382872" "00381656" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000383451" "00382237" "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" "0000383713" "00382499" "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" "0000384677" "00383452" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384981" "00383756" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385016" "00383791" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385069" "00383844" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385213" "00383988" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385329" "00384104" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000386640" "00385411" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387418" "00386189" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387435" "00386206" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387513" "00386284" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388845" "00387619" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA" "" "" "0000390590" "00389347" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390591" "00389348" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390642" "00389399" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390749" "00389506" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390852" "00389609" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390853" "00389610" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390865" "00389622" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391029" "00389786" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391030" "00389787" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391047" "00389804" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391048" "00389805" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391059" "00389816" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000391214" "00389971" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391422" "00390181" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391423" "00390182" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391969" "00390728" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391970" "00390729" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391971" "00390730" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392248" "00391007" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392601" "00391359" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393873" "00392626" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394728" "00393480" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000394819" "00393571" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395790" "00394543" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397443" "00388498" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000401031" "00399788" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000408604" "00407356" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000408606" "00407358" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000412618" "00411348" "1" "04333" "04333" "2022-06-12 11:04:20" "" "" "SEQ-NG" "DNA" "" "MIPs" "0000412619" "00411349" "1" "04333" "04333" "2022-06-12 11:06:53" "" "" "SEQ-NG" "DNA" "" "MIPs" "0000412927" "00411655" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" "" "0000412928" "00411656" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" "" "0000412929" "00411657" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" "" "0000412930" "00411658" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" "" "0000412932" "00411660" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412933" "00411661" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412934" "00411662" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412935" "00411663" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412936" "00411664" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412937" "00411665" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412938" "00411666" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412939" "00411667" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412940" "00411668" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412941" "00411669" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412942" "00411670" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412943" "00411671" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412944" "00411672" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412945" "00411673" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "Venous blood" "WES" "0000421015" "00419710" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000430952" "00429539" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430953" "00429540" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431036" "00429623" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431117" "00429704" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431128" "00429715" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431168" "00429755" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431192" "00429779" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431210" "00429797" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431301" "00429888" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431383" "00429970" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431395" "00429982" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431425" "00430012" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000437112" "00435631" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448586" "00447009" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448664" "00447087" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448686" "00447109" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448687" "00447110" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448692" "00447115" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449273" "00447696" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452494" "00450896" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452495" "00450897" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452496" "00450898" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452497" "00450899" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452498" "00450900" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452499" "00450901" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452500" "00450902" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452501" "00450903" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452502" "00450904" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452503" "00450905" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452504" "00450906" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452505" "00450907" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000462742" "00461110" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 201 "{{screeningid}}" "{{geneid}}" "0000033193" "C2orf71" "0000033193" "SEMA4A" "0000033193" "SNRNP200" "0000033214" "C2orf71" "0000033214" "CACNA2D4" "0000033214" "CRB1" "0000033214" "PDE6B" "0000033229" "AIPL1" "0000033229" "C2orf71" "0000033229" "CFH" "0000033229" "NRL" "0000033239" "C2orf71" "0000033240" "C2orf71" "0000033241" "C2orf71" "0000033242" "C2orf71" "0000033243" "C2orf71" "0000033244" "C2orf71" "0000033245" "C2orf71" "0000033246" "C2orf71" "0000033247" "C2orf71" "0000033248" "C2orf71" "0000033249" "C2orf71" "0000033250" "C2orf71" "0000033251" "C2orf71" "0000033252" "C2orf71" "0000033253" "C2orf71" "0000033254" "C2orf71" "0000033255" "C2orf71" "0000033256" "C2orf71" "0000033257" "C2orf71" "0000033418" "C2orf71" "0000033433" "C2orf71" "0000033434" "C2orf71" "0000033668" "C2orf71" "0000033676" "C2orf71" "0000033677" "C2orf71" "0000052894" "RPE65" "0000060202" "C2orf71" "0000060202" "RP1L1" "0000156259" "C2orf71" "0000156260" "C2orf71" "0000156261" "C2orf71" "0000156262" "C2orf71" "0000156263" "C2orf71" "0000174782" "MERTK" "0000233354" "C2orf71" "0000233355" "C2orf71" "0000233356" "C2orf71" "0000233357" "C2orf71" "0000233358" "C2orf71" "0000233359" "C2orf71" "0000233360" "C2orf71" "0000233361" "C2orf71" "0000233362" "C2orf71" "0000233363" "C2orf71" "0000233364" "C2orf71" "0000233365" "C2orf71" "0000233366" "C2orf71" "0000233367" "C2orf71" "0000233368" "C2orf71" "0000233369" "C2orf71" "0000233370" "C2orf71" "0000233371" "C2orf71" "0000233372" "C2orf71" "0000233373" "C2orf71" "0000233374" "C2orf71" "0000233375" "C2orf71" "0000233376" "C2orf71" "0000233377" "C2orf71" "0000233378" "C2orf71" "0000233379" "C2orf71" "0000233380" "C2orf71" "0000233381" "C2orf71" "0000233382" "C2orf71" "0000233383" "C2orf71" "0000233384" "C2orf71" "0000233385" "C2orf71" "0000233386" "C2orf71" "0000233387" "C2orf71" "0000233388" "C2orf71" "0000233389" "C2orf71" "0000233390" "C2orf71" "0000233391" "C2orf71" "0000233392" "C2orf71" "0000234732" "C2orf71" "0000234733" "C2orf71" "0000234734" "C2orf71" "0000234735" "C2orf71" "0000234736" "C2orf71" "0000234737" "C2orf71" "0000301364" "NDUFAF7" "0000309547" "C2orf71" "0000309548" "C2orf71" "0000310134" "C2orf71" "0000310136" "C2orf71" "0000310137" "C2orf71" "0000310138" "C2orf71" "0000310139" "C2orf71" "0000310140" "C2orf71" "0000310141" "C2orf71" "0000310965" "C2orf71" "0000326677" "C2orf71" "0000326685" "C2orf71" "0000329186" "C2orf71" "0000329405" "C2orf71" "0000336489" "C2orf71" "0000337188" "C2orf71" "0000360568" "C2orf71" "0000363450" "C2orf71" "0000364742" "C2orf71" "0000364754" "C2orf71" "0000364924" "C2orf71" "0000370186" "ABCA4" "0000374753" "C2orf71" "0000376175" "C2orf71" "0000376491" "C2orf71" "0000376492" "C2orf71" "0000380573" "C2orf71" "0000380574" "C2orf71" "0000381017" "C2orf71" "0000381586" "C2orf71" "0000382208" "C2orf71" "0000382226" "C2orf71" "0000382253" "C2orf71" "0000382280" "C2orf71" "0000382281" "C2orf71" "0000382381" "C2orf71" "0000382811" "C2orf71" "0000382861" "RDH12" "0000382866" "TULP1" "0000382872" "RPGRIP1" "0000383451" "C2orf71" "0000383713" "C2orf71" "0000384677" "C2orf71" "0000384981" "C2orf71" "0000385016" "C2orf71" "0000385213" "C2orf71" "0000385329" "C2orf71" "0000386640" "C2orf71" "0000387418" "C2orf71" "0000387435" "ABCA4" "0000387513" "RPGR" "0000388845" "C2orf71" "0000390590" "C2orf71" "0000390591" "C2orf71" "0000390642" "C2orf71" "0000390749" "C2orf71" "0000390852" "C2orf71" "0000390853" "C2orf71" "0000390865" "C2orf71" "0000391029" "C2orf71" "0000391030" "C2orf71" "0000391047" "C2orf71" "0000391048" "C2orf71" "0000391059" "C2orf71" "0000391214" "C2orf71" "0000391422" "C2orf71" "0000391423" "C2orf71" "0000391969" "C2orf71" "0000391970" "C2orf72" "0000391971" "C2orf73" "0000392248" "C2orf71" "0000392601" "C2orf71" "0000393873" "C2orf71" "0000394728" "C2orf71" "0000394819" "C2orf71" "0000395790" "C2orf71" "0000401031" "MERTK" "0000408603" "NES" "0000408604" "SLC1A7" "0000408606" "INADL" "0000412927" "C2orf71" "0000412928" "C2orf71" "0000412929" "C2orf71" "0000412930" "C2orf71" "0000412932" "C2orf71" "0000412933" "C2orf71" "0000412934" "C2orf71" "0000412935" "C2orf71" "0000412936" "C2orf71" "0000412937" "C2orf71" "0000412938" "C2orf71" "0000412939" "C2orf71" "0000412940" "C2orf71" "0000412941" "C2orf71" "0000412942" "C2orf71" "0000412943" "C2orf71" "0000412944" "C2orf71" "0000412945" "C2orf71" "0000430952" "C2orf71" "0000430953" "C2orf71" "0000431036" "C2orf71" "0000431117" "C2orf71" "0000431128" "C2orf71" "0000431168" "C2orf71" "0000431192" "C2orf71" "0000431210" "C2orf71" "0000431301" "C2orf71" "0000431383" "C2orf71" "0000431395" "C2orf71" "0000431425" "C2orf71" ## 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 = 475 "{{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}}" "0000059531" "11" "90" "2" "29296369" "29296369" "subst" "0" "00006" "C2orf71_000001" "g.29296369C>T" "" "{PMID:Nishimura 2010:20398886}" "" "W253X" "homozygosity mapping; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.29073503C>T" "" "pathogenic" "" "0000059532" "21" "90" "2" "29296369" "29296369" "subst" "0" "00006" "C2orf71_000001" "g.29296369C>T" "" "{PMID:Nishimura 2010:20398886}" "" "W253X" "homozygosity mapping; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.29073503C>T" "" "pathogenic" "" "0000059533" "1" "90" "2" "29296369" "29296369" "subst" "0" "00006" "C2orf71_000001" "g.29296369C>T" "" "{PMID:Nishimura 2010:20398886}" "" "W253X" "homozygosity mapping; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.29073503C>T" "" "pathogenic" "" "0000059534" "10" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059535" "20" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059536" "10" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059537" "20" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059538" "10" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059539" "20" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059540" "10" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059541" "20" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059542" "1" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "" "{PMID:Collin 2010:20398884}" "" "946del" "homozygosity mapping; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000059543" "10" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059544" "21" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059545" "10" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059546" "21" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059547" "10" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059548" "21" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059549" "11" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059550" "21" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059551" "1" "90" "2" "29296572" "29296572" "subst" "0" "00006" "C2orf71_000004" "g.29296572G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 286 control chromosomes" "Germline" "" "" "0" "" "" "g.29073706G>A" "" "pathogenic" "" "0000059552" "10" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059553" "20" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059554" "10" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059555" "20" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059556" "10" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059557" "20" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059558" "10" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059559" "20" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic" "" "0000059560" "1" "10" "2" "29294528" "29294528" "subst" "0.00193996" "00229" "C2orf71_000006" "g.29294528G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.29071662G>A" "" "benign" "" "0000059561" "10" "30" "2" "29294528" "29294528" "subst" "0.00193996" "00006" "C2orf71_000006" "g.29294528G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071662G>A" "" "likely benign" "" "0000059562" "20" "30" "2" "29294528" "29294528" "subst" "0.00193996" "00006" "C2orf71_000006" "g.29294528G>A" "" "{PMID:Collin 2010:20398884}" "" "" "homozygosity mapping; not in 308 control chromosomes" "Germline" "" "" "0" "" "" "g.29071662G>A" "" "likely benign" "" "0000059563" "1" "30" "2" "29294528" "29294528" "subst" "0.00193996" "00006" "C2orf71_000006" "g.29294528G>A" "1/180 chromosomes" "{PMID:Collin 2010:20398884}" "" "" "" "Germline" "" "" "0" "" "" "g.29071662G>A" "" "likely benign" "" "0000059564" "1" "90" "2" "29295608" "29295608" "del" "0" "00039" "C2orf71_000006" "g.29295608del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.29072742del" "" "pathogenic" "" "0000059565" "2" "90" "2" "29295608" "29295608" "del" "0" "00039" "C2orf71_000006" "g.29295608del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.29072742del" "" "pathogenic" "" "0000059566" "11" "90" "2" "29296527" "29296527" "subst" "4.06118E-6" "00006" "C2orf71_000007" "g.29296527T>A" "" "{PMID:Nishimura 2010:20398886}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.29073661T>A" "" "pathogenic" "" "0000059567" "21" "90" "2" "29296527" "29296527" "subst" "4.06118E-6" "00006" "C2orf71_000007" "g.29296527T>A" "" "{PMID:Nishimura 2010:20398886}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.29073661T>A" "" "pathogenic" "" "0000059568" "1" "90" "2" "29296527" "29296527" "subst" "4.06118E-6" "00006" "C2orf71_000007" "g.29296527T>A" "" "{PMID:Nishimura 2010:20398886}" "" "" "not in 384 control chromosomes; homozygous carrier BBS1:M390R" "Germline" "" "" "0" "" "" "g.29073661T>A" "" "pathogenic" "" "0000059569" "1" "90" "2" "29296527" "29296527" "subst" "4.06118E-6" "00006" "C2orf71_000007" "g.29296527T>A" "" "{PMID:Nishimura 2010:20398886}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.29073661T>A" "" "pathogenic" "" "0000059570" "1" "50" "2" "29293861" "29293863" "del" "0" "00229" "C2orf71_000008" "g.29293861_29293863del" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.29070995_29070997del" "" "VUS" "" "0000059571" "2" "50" "2" "29293861" "29293863" "del" "0" "00229" "C2orf71_000008" "g.29293861_29293863del" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.29070995_29070997del" "" "VUS" "" "0000059572" "1" "50" "2" "29287935" "29287937" "dup" "0" "00229" "C2orf71_000009" "g.29287935_29287937dup" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.29065069_29065071dup" "" "VUS" "" "0000059573" "1" "50" "2" "29296373" "29296373" "subst" "0.0062102" "00229" "C2orf71_000010" "g.29296373G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.29073507G>T" "" "VUS" "" "0000059574" "1" "70" "2" "29294960" "29294961" "del" "0" "00130" "C2orf71_000011" "g.29294960_29294961del" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Germline" "" "" "0" "" "" "g.29072094_29072095del" "" "likely pathogenic" "" "0000059575" "2" "70" "2" "29296182" "29296182" "del" "0" "00130" "C2orf71_000012" "g.29296182del" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Germline" "" "" "0" "" "" "g.29073316del" "" "likely pathogenic" "" "0000059576" "10" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "01243" "C2orf71_000014" "g.29293839G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29070973G>A" "" "pathogenic" "" "0000059577" "20" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "01243" "C2orf71_000014" "g.29293839G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29070973G>A" "" "pathogenic" "" "0000059578" "10" "70" "2" "29295333" "29295333" "subst" "8.12902E-6" "00244" "C2orf71_000015" "g.29295333A>G" "" "Gonzalez-del Pozo ESHG2013 P13.82" "" "" "" "Germline" "" "" "0" "" "" "g.29072467A>G" "" "likely pathogenic" "" "0000059579" "20" "70" "2" "29295333" "29295333" "subst" "8.12902E-6" "00244" "C2orf71_000015" "g.29295333A>G" "" "Gonzalez-del Pozo ESHG2013 P13.82" "" "" "" "Germline" "" "" "0" "" "" "g.29072467A>G" "" "likely pathogenic" "" "0000094913" "11" "90" "2" "29295593" "29295593" "subst" "0" "01251" "C2orf71_000016" "g.29295593G>T" "" "{PMID:Liu 2016:27029556}, {DOI:Liu 2016:10.3109/13816810.2016.1151898}" "" "" "" "Germline" "" "" "0" "" "" "g.29072727G>T" "" "pathogenic" "" "0000170886" "3" "90" "2" "29296060" "29296061" "del" "0" "01244" "C2orf71_000017" "g.29296060_29296061del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "?" "" "0" "" "" "g.29073194_29073195del" "" "pathogenic" "ACMG" "0000246069" "0" "50" "2" "29296388" "29296388" "subst" "8.12295E-6" "02330" "C2orf71_000045" "g.29296388A>T" "" "" "" "PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073522A>T" "" "VUS" "" "0000253649" "0" "10" "2" "29295016" "29295016" "subst" "0.264709" "01943" "C2orf71_000036" "g.29295016A>G" "" "" "" "C2orf71(NM_001029883.2):c.2112T>C (p.N704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072150A>G" "" "benign" "" "0000254841" "0" "30" "2" "29293951" "29293951" "subst" "0.02156" "01943" "C2orf71_000028" "g.29293951A>G" "" "" "" "C2orf71(NM_001029883.2):c.3177T>C (p.P1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071085A>G" "" "likely benign" "" "0000263847" "0" "10" "2" "29295741" "29295741" "subst" "0.000353305" "02330" "C2orf71_000042" "g.29295741C>T" "" "" "" "PCARE(NM_001029883.3):c.1387G>A (p.V463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072875C>T" "" "benign" "" "0000263848" "0" "10" "2" "29295583" "29295583" "subst" "0.00107029" "02330" "C2orf71_000041" "g.29295583T>C" "" "" "" "PCARE(NM_001029883.3):c.1545A>G (p.Q515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072717T>C" "" "benign" "" "0000263850" "0" "10" "2" "29295046" "29295046" "subst" "2.43665E-5" "02330" "C2orf71_000037" "g.29295046G>A" "" "" "" "PCARE(NM_001029883.3):c.2082C>T (p.D694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072180G>A" "" "benign" "" "0000263851" "0" "10" "2" "29294938" "29294938" "subst" "9.34056E-5" "02330" "C2orf71_000035" "g.29294938G>A" "" "" "" "PCARE(NM_001029883.2):c.2190C>T (p.S730=), PCARE(NM_001029883.3):c.2190C>T (p.S730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072072G>A" "" "benign" "" "0000263852" "0" "10" "2" "29294599" "29294599" "subst" "1.21996E-5" "02330" "C2orf71_000034" "g.29294599G>A" "" "" "" "PCARE(NM_001029883.3):c.2529C>T (p.F843=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071733G>A" "" "benign" "" "0000263854" "0" "30" "2" "29294528" "29294528" "subst" "0.00193996" "02330" "C2orf71_000006" "g.29294528G>A" "" "" "" "C2orf71(NM_001029883.2):c.2600C>T (p.P867L), PCARE(NM_001029883.3):c.2600C>T (p.P867L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071662G>A" "" "likely benign" "" "0000263855" "0" "10" "2" "29294527" "29294527" "subst" "0.000383239" "02330" "C2orf71_000032" "g.29294527C>T" "" "" "" "PCARE(NM_001029883.3):c.2601G>A (p.P867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071661C>T" "" "benign" "" "0000263856" "0" "10" "2" "29294253" "29294253" "subst" "0.00411578" "02330" "C2orf71_000031" "g.29294253C>T" "" "" "" "C2orf71(NM_001029883.2):c.2875G>A (p.A959T), PCARE(NM_001029883.3):c.2875G>A (p.A959T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071387C>T" "" "benign" "" "0000263857" "0" "30" "2" "29293681" "29293681" "subst" "0.00338305" "02330" "C2orf71_000027" "g.29293681C>T" "" "" "" "C2orf71(NM_001029883.2):c.3447G>A (p.P1149=), PCARE(NM_001029883.3):c.3447G>A (p.P1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070815C>T" "" "likely benign" "" "0000263858" "0" "10" "2" "29293606" "29293606" "subst" "0.00279046" "02330" "C2orf71_000026" "g.29293606G>A" "" "" "" "C2orf71(NM_001029883.2):c.3522C>T (p.D1174=), PCARE(NM_001029883.3):c.3522C>T (p.D1174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070740G>A" "" "benign" "" "0000263859" "0" "30" "2" "29293598" "29293598" "subst" "6.09295E-5" "02330" "C2orf71_000025" "g.29293598C>T" "" "" "" "PCARE(NM_001029883.3):c.3530G>A (p.R1177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070732C>T" "" "likely benign" "" "0000263860" "0" "10" "2" "29287897" "29287897" "subst" "0.000306589" "02330" "C2orf71_000021" "g.29287897C>T" "" "" "" "PCARE(NM_001029883.3):c.3705G>A (p.P1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29065031C>T" "" "benign" "" "0000263861" "0" "10" "2" "29287863" "29287863" "subst" "0.00836467" "02330" "C2orf71_000020" "g.29287863C>T" "" "" "" "C2orf71(NM_001029883.2):c.3739G>A (p.G1247S, p.(Gly1247Ser)), PCARE(NM_001029883.3):c.3739G>A (p.G1247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29064997C>T" "" "benign" "" "0000263862" "0" "10" "2" "29287813" "29287813" "subst" "0.00483253" "02330" "C2orf71_000018" "g.29287813C>T" "" "" "" "C2orf71(NM_001029883.2):c.3789G>A (p.L1263=), PCARE(NM_001029883.3):c.3789G>A (p.L1263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29064947C>T" "" "benign" "" "0000272280" "0" "50" "2" "29296053" "29296053" "subst" "4.46744E-5" "01943" "C2orf71_000044" "g.29296053C>T" "" "" "" "C2orf71(NM_001029883.2):c.1075G>A (p.V359M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073187C>T" "" "VUS" "" "0000272281" "0" "10" "2" "29295741" "29295741" "subst" "0.00170155" "01943" "C2orf71_000043" "g.29295741C>A" "" "" "" "C2orf71(NM_001029883.2):c.1387G>T (p.V463F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072875C>A" "" "benign" "" "0000272283" "0" "10" "2" "29295246" "29295246" "subst" "0.00145941" "01943" "C2orf71_000039" "g.29295246C>T" "" "" "" "C2orf71(NM_001029883.2):c.1882G>A (p.A628T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072380C>T" "" "benign" "" "0000272284" "0" "50" "2" "29295192" "29295192" "subst" "0" "01943" "C2orf71_000038" "g.29295192C>T" "" "" "" "C2orf71(NM_001029883.2):c.1936G>A (p.A646T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072326C>T" "" "VUS" "" "0000272285" "0" "90" "2" "29294960" "29294961" "del" "0" "01943" "C2orf71_000011" "g.29294960_29294961del" "" "" "" "C2orf71(NM_001029883.2):c.2169_2170delAG (p.G724Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072094_29072095del" "" "pathogenic" "" "0000272286" "0" "30" "2" "29294528" "29294528" "subst" "0.00193996" "01943" "C2orf71_000006" "g.29294528G>A" "" "" "" "C2orf71(NM_001029883.2):c.2600C>T (p.P867L), PCARE(NM_001029883.3):c.2600C>T (p.P867L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071662G>A" "" "likely benign" "" "0000272287" "0" "10" "2" "29294253" "29294253" "subst" "0.00411578" "01943" "C2orf71_000031" "g.29294253C>T" "" "" "" "C2orf71(NM_001029883.2):c.2875G>A (p.A959T), PCARE(NM_001029883.3):c.2875G>A (p.A959T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071387C>T" "" "benign" "" "0000272288" "0" "50" "2" "29294070" "29294070" "subst" "0.00745213" "01943" "C2orf71_000030" "g.29294070G>T" "" "" "" "C2orf71(NM_001029883.2):c.3058C>A (p.Q1020K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071204G>T" "" "VUS" "" "0000272289" "0" "50" "2" "29294069" "29294069" "subst" "0.00747866" "01943" "C2orf71_000029" "g.29294069T>C" "" "" "" "C2orf71(NM_001029883.2):c.3059A>G (p.Q1020R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071203T>C" "" "VUS" "" "0000272290" "0" "10" "2" "29293681" "29293681" "subst" "0.00338305" "01943" "C2orf71_000027" "g.29293681C>T" "" "" "" "C2orf71(NM_001029883.2):c.3447G>A (p.P1149=), PCARE(NM_001029883.3):c.3447G>A (p.P1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070815C>T" "" "benign" "" "0000272291" "0" "50" "2" "29293523" "29293523" "subst" "6.0937E-5" "01943" "C2orf71_000024" "g.29293523C>T" "" "" "" "C2orf71(NM_001029883.2):c.3605G>A (p.R1202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070657C>T" "" "VUS" "" "0000272292" "0" "10" "2" "29293502" "29293502" "subst" "0.00145883" "01943" "C2orf71_000023" "g.29293502T>C" "" "" "" "C2orf71(NM_001029883.2):c.3626A>G (p.D1209G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070636T>C" "" "benign" "" "0000272293" "0" "30" "2" "29293468" "29293468" "subst" "1.22147E-5" "01943" "C2orf71_000022" "g.29293468G>A" "" "" "" "C2orf71(NM_001029883.2):c.3660C>T (p.G1220=), PCARE(NM_001029883.3):c.3660C>T (p.G1220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070602G>A" "" "likely benign" "" "0000272294" "0" "30" "2" "29287863" "29287863" "subst" "0.00836467" "01943" "C2orf71_000020" "g.29287863C>T" "" "" "" "C2orf71(NM_001029883.2):c.3739G>A (p.G1247S, p.(Gly1247Ser)), PCARE(NM_001029883.3):c.3739G>A (p.G1247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29064997C>T" "" "likely benign" "" "0000272295" "0" "30" "2" "29287841" "29287841" "subst" "0.00142384" "01943" "C2orf71_000019" "g.29287841G>A" "" "" "" "C2orf71(NM_001029883.2):c.3761C>T (p.P1254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29064975G>A" "" "likely benign" "" "0000272296" "0" "30" "2" "29296666" "29296666" "subst" "6.09196E-5" "01943" "C2orf71_000047" "g.29296666T>C" "" "" "" "C2orf71(NM_001029883.2):c.462A>G (p.S154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073800T>C" "" "likely benign" "" "0000272297" "0" "50" "2" "29296628" "29296628" "subst" "1.21828E-5" "01943" "C2orf71_000046" "g.29296628G>A" "" "" "" "C2orf71(NM_001029883.2):c.500C>T (p.A167V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073762G>A" "" "VUS" "" "0000337657" "0" "10" "2" "29287708" "29287708" "subst" "0.263749" "02327" "C2orf71_000048" "g.29287708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29064842C>T" "" "benign" "" "0000337658" "0" "10" "2" "29293446" "29293446" "subst" "0.0390976" "02327" "C2orf71_000050" "g.29293446A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29070580A>G" "" "benign" "" "0000337659" "0" "10" "2" "29294754" "29294754" "subst" "0.167693" "02327" "C2orf71_000054" "g.29294754G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071888G>C" "" "benign" "" "0000339795" "0" "10" "2" "29295016" "29295016" "subst" "0.264709" "02327" "C2orf71_000036" "g.29295016A>G" "" "" "" "C2orf71(NM_001029883.2):c.2112T>C (p.N704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072150A>G" "" "benign" "" "0000339796" "0" "10" "2" "29295676" "29295676" "subst" "0.26329" "02327" "C2orf71_000056" "g.29295676G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072810G>A" "" "benign" "" "0000339797" "0" "10" "2" "29296870" "29296870" "subst" "0.16309" "02327" "C2orf71_000058" "g.29296870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29074004C>T" "" "benign" "" "0000339798" "0" "10" "2" "29297068" "29297068" "subst" "0.163944" "02327" "C2orf71_000059" "g.29297068C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29074202C>T" "" "benign" "" "0000343536" "0" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "02327" "C2orf71_000052" "g.29294178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071312G>A" "" "pathogenic" "" "0000343706" "0" "90" "2" "29296182" "29296182" "del" "0" "02327" "C2orf71_000012" "g.29296182del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000347565" "0" "10" "2" "29295866" "29295866" "subst" "0.0675501" "02327" "C2orf71_000057" "g.29295866T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29073000T>C" "" "benign" "" "0000349572" "0" "10" "2" "29295389" "29295389" "subst" "0.100849" "02327" "C2orf71_000055" "g.29295389G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29072523G>A" "" "benign" "" "0000349670" "0" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "02327" "C2orf71_000051" "g.29294126C>T" "" "" "" "PCARE(NM_001029883.3):c.3002G>A (p.(Trp1001Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29071260C>T" "" "pathogenic" "" "0000358181" "3" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "01243" "C2orf71_000014" "g.29293839G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.29070973G>A" "" "pathogenic" "" "0000358182" "1" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "01243" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.29070973G>A" "" "pathogenic (recessive)" "" "0000358183" "21" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "01243" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.29071312G>A" "" "pathogenic (recessive)" "" "0000358184" "3" "90" "2" "29296348" "29296349" "del" "0" "01243" "C2orf71_000060" "g.29296348_29296349del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000358185" "3" "90" "2" "29296648" "29296648" "ins" "0" "01243" "C2orf71_000061" "g.29296648insA" "" "Sharon, submitted" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000358414" "2" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "01243" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.29071312G>A" "" "pathogenic (recessive)" "" "0000358415" "11" "90" "2" "29294363" "29294375" "del" "0" "01243" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "" "pathogenic (recessive)" "" "0000476062" "0" "10" "2" "29287863" "29287863" "subst" "0.00836467" "02591" "C2orf71_000020" "g.29287863C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187333111" "0" "" "" "g.29064997C>T" "" "benign" "" "0000476063" "0" "50" "2" "29287880" "29287880" "subst" "0.000307414" "02591" "C2orf71_000062" "g.29287880G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs78471512" "0" "" "" "g.29065014G>A" "" "VUS" "" "0000476064" "0" "90" "2" "29287898" "29287898" "subst" "0.00029369" "02591" "C2orf71_000063" "g.29287898G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201933656" "0" "" "" "g.29065032G>A" "" "pathogenic" "" "0000476065" "0" "50" "2" "29287906" "29287906" "subst" "0" "02591" "C2orf71_000064" "g.29287906G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29065040G>T" "" "VUS" "" "0000476066" "0" "10" "2" "29287935" "29287937" "dup" "0" "02591" "C2orf71_000049" "g.29287935_29287937dup" "591/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139768554" "0" "" "" "g.29065069_29065071dup" "" "benign" "" "0000476067" "0" "50" "2" "29287938" "29287938" "subst" "9.1016E-5" "02591" "C2orf71_000065" "g.29287938C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29065072C>T" "" "VUS" "" "0000476068" "0" "50" "2" "29293538" "29293538" "subst" "0.000101551" "02591" "C2orf71_000066" "g.29293538C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs375769419" "0" "" "" "g.29070672C>T" "" "VUS" "" "0000476069" "0" "50" "2" "29293601" "29293601" "subst" "0.000190903" "02591" "C2orf71_000067" "g.29293601T>C" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs182812191" "0" "" "" "g.29070735T>C" "" "VUS" "" "0000476070" "0" "50" "2" "29293659" "29293659" "subst" "1.22082E-5" "02591" "C2orf71_000068" "g.29293659C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs755486918" "0" "" "" "g.29070793C>T" "" "VUS" "" "0000476071" "0" "50" "2" "29293724" "29293724" "subst" "6.21947E-5" "02591" "C2orf71_000069" "g.29293724G>A" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756152942" "0" "" "" "g.29070858G>A" "" "VUS" "" "0000476072" "3" "90" "2" "29293774" "29293775" "del" "0" "02591" "C2orf71_000070" "g.29293774_29293775del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29070908_29070909del" "" "pathogenic" "" "0000476073" "0" "50" "2" "29293772" "29293772" "subst" "0" "02591" "C2orf71_000071" "g.29293772G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29070906G>A" "" "VUS" "" "0000476074" "0" "50" "2" "29293857" "29293857" "subst" "0" "02591" "C2orf71_000072" "g.29293857G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29070991G>A" "" "VUS" "" "0000476075" "0" "50" "2" "29293912" "29293912" "subst" "0" "02591" "C2orf71_000073" "g.29293912G>T" "2/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29071046G>T" "" "VUS" "" "0000476076" "0" "50" "2" "29293944" "29293944" "subst" "0.0120343" "02591" "C2orf71_000074" "g.29293944C>G" "1203/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs555070980" "0" "" "" "g.29071078C>G" "" "VUS" "" "0000476077" "0" "50" "2" "29293976" "29293976" "subst" "3.98438E-5" "02591" "C2orf71_000075" "g.29293976G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs543584326" "0" "" "" "g.29071110G>A" "" "VUS" "" "0000476078" "0" "50" "2" "29294148" "29294148" "subst" "0" "02591" "C2orf71_000076" "g.29294148C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29071282C>T" "" "VUS" "" "0000476079" "0" "50" "2" "29294163" "29294163" "subst" "0.000472921" "02591" "C2orf71_000077" "g.29294163G>C" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs184281410" "0" "" "" "g.29071297G>C" "" "VUS" "" "0000476080" "0" "50" "2" "29294264" "29294264" "subst" "0.00132795" "02591" "C2orf71_000078" "g.29294264C>T" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs184249075" "0" "" "" "g.29071398C>T" "" "VUS" "" "0000476081" "0" "50" "2" "29294325" "29294325" "subst" "6.97098E-5" "02591" "C2orf71_000079" "g.29294325C>T" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200817926" "0" "" "" "g.29071459C>T" "" "VUS" "" "0000476082" "0" "50" "2" "29294363" "29294363" "subst" "0" "02591" "C2orf71_000080" "g.29294363A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29071497A>G" "" "VUS" "" "0000476083" "0" "50" "2" "29294414" "29294414" "subst" "4.14563E-6" "02591" "C2orf71_000081" "g.29294414C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs373070906" "0" "" "" "g.29071548C>T" "" "VUS" "" "0000476084" "0" "50" "2" "29294558" "29294558" "subst" "1.62643E-5" "02591" "C2orf71_000082" "g.29294558T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs758364172" "0" "" "" "g.29071692T>G" "" "VUS" "" "0000476085" "0" "50" "2" "29294598" "29294598" "subst" "0.000101669" "02591" "C2orf71_000083" "g.29294598C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs370203821" "0" "" "" "g.29071732C>T" "" "VUS" "" "0000476086" "0" "50" "2" "29294646" "29294646" "subst" "3.65904E-5" "02591" "C2orf71_000084" "g.29294646C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs758896709" "0" "" "" "g.29071780C>T" "" "VUS" "" "0000476087" "0" "50" "2" "29294666" "29294666" "subst" "0" "02591" "C2orf71_000085" "g.29294666C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29071800C>T" "" "VUS" "" "0000476088" "0" "10" "2" "29294754" "29294754" "subst" "0.167693" "02591" "C2orf71_000054" "g.29294754G>C" "227/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs17744093" "0" "" "" "g.29071888G>C" "" "benign" "" "0000476089" "0" "50" "2" "29295186" "29295186" "subst" "0.0102425" "02591" "C2orf71_000086" "g.29295186C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs75276619" "0" "" "" "g.29072320C>T" "" "VUS" "" "0000476090" "0" "50" "2" "29295353" "29295353" "subst" "6.50248E-5" "02591" "C2orf71_000087" "g.29295353G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202166083" "0" "" "" "g.29072487G>A" "" "VUS" "" "0000476091" "0" "10" "2" "29295389" "29295389" "subst" "0.100849" "02591" "C2orf71_000055" "g.29295389G>A" "496/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs10166913" "0" "" "" "g.29072523G>A" "" "benign" "" "0000476092" "0" "50" "2" "29295546" "29295546" "subst" "0.00101811" "02591" "C2orf71_000088" "g.29295546G>A" "125/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs80151896" "0" "" "" "g.29072680G>A" "" "VUS" "" "0000476093" "0" "50" "2" "29295638" "29295638" "subst" "0" "02591" "C2orf71_000089" "g.29295638A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29072772A>C" "" "VUS" "" "0000476094" "0" "50" "2" "29295723" "29295723" "subst" "0" "02591" "C2orf71_000090" "g.29295723G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29072857G>A" "" "VUS" "" "0000476095" "0" "10" "2" "29295866" "29295866" "subst" "0.0675501" "02591" "C2orf71_000057" "g.29295866T>C" "491/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs17007544" "0" "" "" "g.29073000T>C" "" "benign" "" "0000476096" "0" "50" "2" "29296460" "29296460" "subst" "4.06161E-6" "02591" "C2orf71_000091" "g.29296460A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs771726446" "0" "" "" "g.29073594A>G" "" "VUS" "" "0000476097" "0" "90" "2" "29296721" "29296721" "subst" "0.000170571" "02591" "C2orf71_000092" "g.29296721T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs761117759" "0" "" "" "g.29073855T>C" "" "pathogenic" "" "0000476098" "0" "50" "2" "29296770" "29296770" "subst" "1.62438E-5" "02591" "C2orf71_000093" "g.29296770C>G" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140625913" "0" "" "" "g.29073904C>G" "" "VUS" "" "0000476099" "0" "50" "2" "29297028" "29297028" "subst" "0" "02591" "C2orf71_000094" "g.29297028C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.29074162C>T" "" "VUS" "" "0000476100" "0" "90" "2" "29297043" "29297043" "subst" "0.000254886" "02591" "C2orf71_000095" "g.29297043G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201706430" "0" "" "" "g.29074177G>A" "" "pathogenic" "" "0000477440" "3" "10" "2" "29287935" "29287937" "dup" "0" "02591" "C2orf71_000049" "g.29287935_29287937dup" "250/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139768554" "0" "" "" "g.29065069_29065071dup" "" "benign" "" "0000477441" "3" "10" "2" "29294754" "29294754" "subst" "0.167693" "02591" "C2orf71_000054" "g.29294754G>C" "15/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs17744093" "0" "" "" "g.29071888G>C" "" "benign" "" "0000477442" "3" "10" "2" "29295389" "29295389" "subst" "0.100849" "02591" "C2orf71_000055" "g.29295389G>A" "125/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs10166913" "0" "" "" "g.29072523G>A" "" "benign" "" "0000477443" "3" "50" "2" "29295546" "29295546" "subst" "0.00101811" "02591" "C2orf71_000088" "g.29295546G>A" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs80151896" "0" "" "" "g.29072680G>A" "" "VUS" "" "0000477444" "3" "10" "2" "29295866" "29295866" "subst" "0.0675501" "02591" "C2orf71_000057" "g.29295866T>C" "123/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs17007544" "0" "" "" "g.29073000T>C" "" "benign" "" "0000477445" "3" "50" "2" "29296770" "29296770" "subst" "1.62438E-5" "02591" "C2orf71_000093" "g.29296770C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140625913" "0" "" "" "g.29073904C>G" "" "VUS" "" "0000478751" "0" "90" "2" "29294424" "29294424" "subst" "0" "01807" "C2orf71_000096" "g.29294424T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29071558T>A" "" "pathogenic" "" "0000478752" "0" "90" "2" "29296355" "29296356" "del" "0" "01807" "C2orf71_000060" "g.29296355_29296356del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29073489_29073490del" "" "pathogenic" "" "0000515616" "0" "30" "2" "29287763" "29287763" "subst" "4.07777E-6" "01804" "C2orf71_000097" "g.29287763G>T" "" "" "" "C2orf71(NM_001029883.2):c.3839C>A (p.(Ala1280Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29064897G>T" "" "likely benign" "" "0000515617" "0" "10" "2" "29287813" "29287813" "subst" "0.00483253" "01943" "C2orf71_000018" "g.29287813C>T" "" "" "" "C2orf71(NM_001029883.2):c.3789G>A (p.L1263=), PCARE(NM_001029883.3):c.3789G>A (p.L1263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29064947C>T" "" "benign" "" "0000515618" "0" "50" "2" "29287854" "29287854" "subst" "0" "02330" "C2orf71_000098" "g.29287854G>A" "" "" "" "PCARE(NM_001029883.3):c.3748C>T (p.R1250C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29064988G>A" "" "VUS" "" "0000515619" "0" "30" "2" "29287863" "29287863" "subst" "0.00836467" "01804" "C2orf71_000020" "g.29287863C>T" "" "" "" "C2orf71(NM_001029883.2):c.3739G>A (p.G1247S, p.(Gly1247Ser)), PCARE(NM_001029883.3):c.3739G>A (p.G1247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29064997C>T" "" "likely benign" "" "0000515620" "0" "30" "2" "29287933" "29287933" "subst" "0" "01804" "C2orf71_000099" "g.29287933G>A" "" "" "" "C2orf71(NM_001029883.2):c.3669C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29065067G>A" "" "likely benign" "" "0000515621" "0" "50" "2" "29293468" "29293468" "subst" "1.22147E-5" "02330" "C2orf71_000022" "g.29293468G>A" "" "" "" "C2orf71(NM_001029883.2):c.3660C>T (p.G1220=), PCARE(NM_001029883.3):c.3660C>T (p.G1220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29070602G>A" "" "VUS" "" "0000515622" "0" "30" "2" "29293606" "29293606" "subst" "0.00279046" "01943" "C2orf71_000026" "g.29293606G>A" "" "" "" "C2orf71(NM_001029883.2):c.3522C>T (p.D1174=), PCARE(NM_001029883.3):c.3522C>T (p.D1174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29070740G>A" "" "likely benign" "" "0000515623" "0" "30" "2" "29293733" "29293733" "subst" "0.00273431" "02330" "C2orf71_000100" "g.29293733T>G" "" "" "" "C2orf71(NM_001029883.2):c.3395A>C (p.E1132A), PCARE(NM_001029883.3):c.3395A>C (p.E1132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29070867T>G" "" "likely benign" "" "0000515624" "0" "50" "2" "29293733" "29293733" "subst" "0.00273431" "01943" "C2orf71_000100" "g.29293733T>G" "" "" "" "C2orf71(NM_001029883.2):c.3395A>C (p.E1132A), PCARE(NM_001029883.3):c.3395A>C (p.E1132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29070867T>G" "" "VUS" "" "0000515625" "0" "30" "2" "29293874" "29293874" "subst" "5.39142E-5" "01943" "C2orf71_000101" "g.29293874G>A" "" "" "" "C2orf71(NM_001029883.2):c.3254C>T (p.S1085L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071008G>A" "" "likely benign" "" "0000515626" "0" "30" "2" "29293944" "29293944" "subst" "0.0120343" "01804" "C2orf71_000074" "g.29293944C>G" "" "" "" "C2orf71(NM_001029883.2):c.3184G>C (p.(Glu1062Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071078C>G" "" "likely benign" "" "0000515627" "0" "10" "2" "29293950" "29293950" "subst" "0.000806932" "02330" "C2orf71_000102" "g.29293950G>T" "" "" "" "PCARE(NM_001029883.3):c.3178C>A (p.P1060T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071084G>T" "" "benign" "" "0000515630" "0" "10" "2" "29294099" "29294099" "subst" "0.000143702" "02330" "C2orf71_000103" "g.29294099C>T" "" "" "" "PCARE(NM_001029883.2):c.3029G>A (p.R1010Q), PCARE(NM_001029883.3):c.3029G>A (p.R1010Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071233C>T" "" "benign" "" "0000515631" "0" "30" "2" "29294264" "29294264" "subst" "0.00132795" "02330" "C2orf71_000078" "g.29294264C>T" "" "" "" "C2orf71(NM_001029883.2):c.2864G>A (p.R955Q), PCARE(NM_001029883.3):c.2864G>A (p.R955Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071398C>T" "" "likely benign" "" "0000515632" "0" "30" "2" "29294264" "29294264" "subst" "0.00132795" "01943" "C2orf71_000078" "g.29294264C>T" "" "" "" "C2orf71(NM_001029883.2):c.2864G>A (p.R955Q), PCARE(NM_001029883.3):c.2864G>A (p.R955Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071398C>T" "" "likely benign" "" "0000515633" "0" "30" "2" "29294420" "29294420" "subst" "3.32058E-5" "01943" "C2orf71_000104" "g.29294420G>T" "" "" "" "C2orf71(NM_001029883.2):c.2708C>A (p.P903H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071554G>T" "" "likely benign" "" "0000515634" "0" "90" "2" "29294532" "29294532" "dup" "0" "02330" "C2orf71_000105" "g.29294532dup" "" "" "" "PCARE(NM_001029883.3):c.2598dupG (p.P867Afs*240)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071666dup" "" "pathogenic" "" "0000515635" "0" "30" "2" "29294589" "29294589" "subst" "0.000394357" "01804" "C2orf71_000106" "g.29294589C>G" "" "" "" "C2orf71(NM_001029883.2):c.2539G>C (p.(Glu847Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071723C>G" "" "likely benign" "" "0000515637" "0" "50" "2" "29295160" "29295160" "subst" "0.000280237" "01943" "C2orf71_000108" "g.29295160C>A" "" "" "" "C2orf71(NM_001029883.2):c.1968G>T (p.R656S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072294C>A" "" "VUS" "" "0000515638" "0" "30" "2" "29295186" "29295186" "subst" "0.0102425" "01804" "C2orf71_000086" "g.29295186C>T" "" "" "" "C2orf71(NM_001029883.2):c.1942G>A (p.(Ala648Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072320C>T" "" "likely benign" "" "0000515641" "0" "50" "2" "29295293" "29295293" "subst" "0.00028477" "01943" "C2orf71_000110" "g.29295293A>G" "" "" "" "C2orf71(NM_001029883.2):c.1835T>C (p.L612P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072427A>G" "" "VUS" "" "0000515642" "0" "50" "2" "29295333" "29295333" "subst" "0" "01943" "C2orf71_000111" "g.29295333A>T" "" "" "" "C2orf71(NM_001029883.2):c.1795T>A (p.C599S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072467A>T" "" "VUS" "" "0000515643" "0" "30" "2" "29295377" "29295377" "subst" "0" "02327" "C2orf71_000112" "g.29295377C>T" "" "" "" "PCARE(NM_001029883.3):c.1751G>A (p.(Ser584Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072511C>T" "" "likely benign" "" "0000515644" "0" "30" "2" "29295546" "29295546" "subst" "0.00101811" "01943" "C2orf71_000088" "g.29295546G>A" "" "" "" "C2orf71(NM_001029883.2):c.1582C>T (p.R528C), PCARE(NM_001029883.3):c.1582C>T (p.R528C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072680G>A" "" "likely benign" "" "0000515645" "0" "90" "2" "29295584" "29295584" "dup" "0" "02330" "C2orf71_000113" "g.29295584dup" "" "" "" "C2orf71(NM_001029883.2):c.1545dupA (p.S516Ifs*5), PCARE(NM_001029883.3):c.1545dupA (p.S516Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072718dup" "" "pathogenic" "" "0000515646" "0" "90" "2" "29295584" "29295584" "dup" "0" "01943" "C2orf71_000113" "g.29295584dup" "" "" "" "C2orf71(NM_001029883.2):c.1545dupA (p.S516Ifs*5), PCARE(NM_001029883.3):c.1545dupA (p.S516Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072718dup" "" "pathogenic" "" "0000515647" "0" "70" "2" "29296169" "29296169" "subst" "0.000154385" "01804" "C2orf71_000114" "g.29296169C>T" "" "" "" "C2orf71(NM_001029883.2):c.959G>A (p.(Arg320His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073303C>T" "" "likely pathogenic" "" "0000515648" "0" "90" "2" "29296170" "29296170" "del" "8.12552E-6" "02327" "C2orf71_000115" "g.29296170del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073304del" "" "pathogenic" "" "0000515649" "0" "50" "2" "29296314" "29296314" "subst" "8.12473E-6" "01943" "C2orf71_000116" "g.29296314G>T" "" "" "" "C2orf71(NM_001029883.2):c.814C>A (p.Q272K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073448G>T" "" "VUS" "" "0000515651" "0" "50" "2" "29296388" "29296388" "subst" "8.12295E-6" "02327" "C2orf71_000045" "g.29296388A>T" "" "" "" "PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073522A>T" "" "VUS" "" "0000515652" "0" "30" "2" "29296449" "29296449" "subst" "0.00785185" "01804" "C2orf71_000117" "g.29296449C>T" "" "" "" "C2orf71(NM_001029883.2):c.679G>A (p.(Glu227Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073583C>T" "" "likely benign" "" "0000515653" "0" "50" "2" "29296700" "29296700" "subst" "6.49825E-5" "01943" "C2orf71_000118" "g.29296700G>A" "" "" "" "C2orf71(NM_001029883.2):c.428C>T (p.S143F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073834G>A" "" "VUS" "" "0000515654" "0" "30" "2" "29296732" "29296732" "subst" "0" "01943" "C2orf71_000119" "g.29296732A>G" "" "" "" "C2orf71(NM_001029883.2):c.396T>C (p.D132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073866A>G" "" "likely benign" "" "0000515655" "0" "30" "2" "29296908" "29296908" "subst" "0" "01804" "C2orf71_000120" "g.29296908G>C" "" "" "" "C2orf71(NM_001029883.2):c.220C>G (p.(Leu74Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29074042G>C" "" "likely benign" "" "0000515656" "0" "10" "2" "29297026" "29297026" "subst" "0.00113344" "02330" "C2orf71_000121" "g.29297026G>A" "" "" "" "PCARE(NM_001029883.3):c.102C>T (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29074160G>A" "" "benign" "" "0000515657" "0" "30" "2" "29297091" "29297091" "subst" "0.0164682" "01804" "C2orf71_000122" "g.29297091T>A" "" "" "" "C2orf71(NM_001029883.2):c.37A>T (p.(Ser13Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29074225T>A" "" "likely benign" "" "0000607898" "0" "30" "2" "29287937" "29287938" "ins" "0" "01943" "C2orf71_000123" "g.29287937_29287938insTG" "" "" "" "C2orf71(NM_001029883.2):c.3669-5_3669-4insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29065071_29065072insTG" "" "likely benign" "" "0000607899" "0" "30" "2" "29287938" "29287939" "ins" "3.50062E-5" "01943" "C2orf71_000124" "g.29287938_29287939insT" "" "" "" "C2orf71(NM_001029883.2):c.3669-6_3669-5insA, PCARE(NM_001029883.3):c.3669-6_3669-5insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29065072_29065073insT" "" "likely benign" "" "0000607900" "0" "30" "2" "29294548" "29294548" "subst" "8.13948E-6" "01943" "C2orf71_000125" "g.29294548C>T" "" "" "" "PCARE(NM_001029883.2):c.2580G>A (p.K860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29071682C>T" "" "likely benign" "" "0000621026" "0" "30" "2" "29294938" "29294938" "subst" "9.34056E-5" "01943" "C2orf71_000035" "g.29294938G>A" "" "" "" "PCARE(NM_001029883.2):c.2190C>T (p.S730=), PCARE(NM_001029883.3):c.2190C>T (p.S730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29072072G>A" "" "likely benign" "" "0000621027" "0" "30" "2" "29296597" "29296597" "subst" "0.000101523" "01943" "C2orf71_000126" "g.29296597C>T" "" "" "" "PCARE(NM_001029883.2):c.531G>A (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073731C>T" "" "likely benign" "" "0000621028" "0" "50" "2" "29296725" "29296725" "subst" "0.000203059" "01943" "C2orf71_000127" "g.29296725C>T" "" "" "" "PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29073859C>T" "" "VUS" "" "0000650563" "1" "50" "2" "29286752" "29286752" "subst" "0" "03575" "C2orf71_000128" "g.29286752C>T" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs74315958}" "Germline" "" "rs74315958" "0" "" "" "g.29063886C>T" "" "VUS" "" "0000650564" "1" "50" "2" "29294070" "29294070" "subst" "0.00745213" "03575" "C2orf71_000030" "g.29294070G>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs201355503}" "Germline" "" "rs201355503" "0" "" "" "g.29071204G>T" "" "VUS" "" "0000650565" "1" "30" "2" "29294780" "29294780" "subst" "0.000520148" "03575" "C2orf71_000129" "g.29294780A>G" "3/2755 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs141559332}" "Germline" "" "rs141559332" "0" "" "" "g.29071914A>G" "" "likely benign" "" "0000650566" "1" "50" "2" "29296598" "29296598" "subst" "0.000328942" "03575" "C2orf71_000130" "g.29296598G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs190791051}" "Germline" "" "rs190791051" "0" "" "" "g.29073732G>A" "" "VUS" "" "0000664284" "21" "30" "2" "29293601" "29293601" "subst" "0.000190903" "00006" "C2orf71_000067" "g.29293601T>C" "" "{PMID:Wang 2017:28837730}" "" "c.3527T>C" "variant found 1/50 controls" "Germline" "yes" "" "0" "" "" "g.29070735T>C" "" "likely benign" "" "0000676614" "0" "50" "2" "29293758" "29293758" "subst" "4.06679E-6" "01943" "C2orf71_000131" "g.29293758A>G" "" "" "" "PCARE(NM_001029883.2):c.3370T>C (p.C1124R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676615" "0" "30" "2" "29294710" "29294710" "subst" "0.000365524" "01943" "C2orf71_000132" "g.29294710G>A" "" "" "" "PCARE(NM_001029883.2):c.2418C>T (p.P806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676616" "0" "50" "2" "29295843" "29295843" "subst" "0.00023148" "01943" "C2orf71_000133" "g.29295843C>T" "" "" "" "PCARE(NM_001029883.2):c.1285G>A (p.E429K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676617" "0" "30" "2" "29296249" "29296249" "subst" "7.31951E-5" "01943" "C2orf71_000134" "g.29296249C>A" "" "" "" "PCARE(NM_001029883.2):c.879G>T (p.L293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676618" "0" "30" "2" "29296261" "29296261" "subst" "0.000235859" "01943" "C2orf71_000135" "g.29296261G>A" "" "" "" "PCARE(NM_001029883.2):c.867C>T (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676619" "0" "30" "2" "29296591" "29296591" "subst" "0.000251781" "01943" "C2orf71_000136" "g.29296591A>G" "" "" "" "PCARE(NM_001029883.2):c.537T>C (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684412" "3" "70" "2" "29294178" "29294178" "subst" "3.26044E-5" "00004" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.29071312G>A" "" "likely pathogenic (recessive)" "" "0000684413" "3" "70" "2" "29295179" "29295179" "subst" "1.62488E-5" "00004" "C2orf71_000137" "g.29295179C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "rs371289954" "0" "" "" "g.29072313C>T" "" "likely pathogenic (recessive)" "" "0000685045" "0" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00004" "C2orf71_000014" "g.29293839G>A" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685047" "0" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "00004" "C2orf71_000052" "g.29294178G>A" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685048" "0" "90" "2" "29294360" "29294372" "del" "0" "00004" "C2orf71_000005" "g.29294360_29294372del" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685049" "0" "90" "2" "29296351" "29296352" "del" "0" "00004" "C2orf71_000060" "g.29296351_29296352del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685050" "0" "70" "2" "29296421" "29296421" "subst" "4.06161E-6" "00004" "C2orf71_000138" "g.29296421A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685051" "0" "90" "2" "29296572" "29296572" "subst" "0" "00004" "C2orf71_000004" "g.29296572G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685052" "0" "90" "2" "29296649" "29296650" "ins" "0" "00004" "C2orf71_000061" "g.29296649_29296650insT" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685637" "3" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00006" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Khateb 2014:24780881}" "" "" "variant linked to RP" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685639" "11" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00006" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Khateb 2014:24780881}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685641" "1" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00006" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Khateb 2014:24780881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685642" "3" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00006" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Khateb 2014:24780881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686109" "3" "90" "2" "29296725" "29296725" "subst" "0" "00006" "C2orf71_000139" "g.29296725C>A" "" "{PMID:Bocquet 2013:24339724}" "" "" "" "Germline" "" "" "0" "" "" "g.29073859C>A" "" "pathogenic (recessive)" "" "0000686127" "0" "50" "2" "29294264" "29294264" "subst" "0.00132795" "00006" "C2orf71_000078" "g.29294264C>T" "" "{PMID:Shah 2018:30300315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000688736" "0" "30" "2" "29295831" "29295831" "subst" "0.000808128" "01943" "C2orf71_000140" "g.29295831G>A" "" "" "" "PCARE(NM_001029883.2):c.1297C>T (p.P433S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688737" "0" "30" "2" "29295854" "29295854" "subst" "5.27936E-5" "01943" "C2orf71_000141" "g.29295854C>T" "" "" "" "PCARE(NM_001029883.2):c.1274G>A (p.R425Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710269" "3" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "947delA" "" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000710277" "3" "90" "2" "29296182" "29296182" "del" "0" "00006" "C2orf71_000003" "g.29296182del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "947delA" "" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic" "" "0000713309" "3" "90" "2" "29296370" "29296370" "subst" "4.06147E-6" "00000" "C2orf71_000142" "g.29296370C>T" "" "{PMID:Carss 2017:28041643}" "" "2:29296370C>T ENST00000331664.5:c.758G>A (Trp253Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713528" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Carss 2017:28041643}" "" "2:29294126C>T ENST00000331664.5:c.3002G>A (Trp1001Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000718742" "0" "10" "2" "29294629" "29294629" "subst" "0.167701" "02327" "C2orf71_000143" "g.29294629C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718743" "0" "50" "2" "29295045" "29295045" "subst" "0.000138074" "02327" "C2orf71_000144" "g.29295045C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718744" "0" "50" "2" "29296388" "29296388" "subst" "8.12295E-6" "01943" "C2orf71_000045" "g.29296388A>T" "" "" "" "PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730923" "0" "90" "2" "29294167" "29294167" "dup" "0" "01807" "C2orf71_000146" "g.29294167dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29071301dup" "" "pathogenic" "" "0000730924" "0" "90" "2" "29294167" "29294167" "del" "0" "01807" "C2orf71_000145" "g.29294167del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29071301del" "" "pathogenic" "" "0000732576" "0" "50" "2" "29295614" "29295614" "subst" "4.0659E-6" "00000" "C2orf71_000148" "g.29295614C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.29072748C>T" "" "VUS" "" "0000732597" "0" "90" "2" "29293865" "29293865" "dup" "0" "00000" "C2orf71_000147" "g.29293865dup" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.29070999dup" "" "pathogenic" "" "0000735885" "1" "70" "2" "29294028" "29294029" "ins" "9.26458E-6" "02485" "C2orf71_000149" "g.29294028_29294029insCCTG" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.29071162_29071163insCCTG" "" "likely pathogenic" "" "0000735952" "2" "70" "2" "29294029" "29294029" "subst" "0" "02485" "C2orf71_000150" "g.29294029A>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.29071163A>G" "" "likely pathogenic" "" "0000736818" "0" "50" "2" "29293863" "29293865" "del" "0" "00000" "C2orf71_000151" "g.29293863_29293865del" "5/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs138020654" "0" "" "" "g.29070997_29070999del" "" "VUS" "" "0000759917" "3" "90" "2" "29295179" "29295179" "subst" "1.62488E-5" "00000" "C2orf71_000137" "g.29295179C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.101232976G>A" "" "pathogenic" "" "0000759918" "1" "90" "2" "29296182" "29296182" "del" "0" "00000" "C2orf71_000003" "g.29296182del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29073316del" "" "pathogenic (recessive)" "" "0000759919" "3" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29072534_29072553del" "" "pathogenic" "" "0000759920" "1" "90" "2" "29294903" "29294904" "del" "0" "00000" "C2orf71_000153" "g.29294903_29294904del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29072037_29072038del" "" "pathogenic (recessive)" "" "0000759921" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29071260C>T" "" "pathogenic (recessive)" "" "0000759953" "2" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29072534_29072553del" "" "pathogenic (recessive)" "" "0000759954" "2" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.29072534_29072553del" "" "pathogenic (recessive)" "" "0000760600" "3" "90" "2" "29294807" "29294813" "delins" "0" "00000" "C2orf71_000152" "g.29294807_29294813delinsCTT" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.29071941_29071947delinsCTT" "" "pathogenic" "" "0000764105" "1" "90" "2" "29293524" "29293524" "subst" "8.12466E-6" "04043" "C2orf71_000155" "g.29293524G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29070658G>A" "" "pathogenic (recessive)" "" "0000764143" "2" "90" "2" "29294028" "29294029" "ins" "9.26458E-6" "04043" "C2orf71_000149" "g.29294028_29294029insCCTG" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29071162_29071163insCCTG" "" "pathogenic (recessive)" "" "0000765646" "1" "70" "2" "29295855" "29295855" "subst" "8.12189E-6" "00000" "C2orf71_000156" "g.29295855G>A" "" "{PMID:Yang 2015:26496393}" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.29072989G>A" "" "likely pathogenic (recessive)" "" "0000765649" "2" "70" "2" "29295614" "29295614" "subst" "4.0659E-6" "00000" "C2orf71_000148" "g.29295614C>T" "" "{PMID:Yang 2015:26496393}" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.29072748C>T" "" "likely pathogenic (recessive)" "" "0000765661" "3" "90" "2" "29296416" "29296416" "subst" "0" "00000" "C2orf71_000157" "g.29296416T>A" "" "{PMID:Beheshtian 2015:26497376}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29073550T>A" "" "pathogenic (recessive)" "" "0000765866" "0" "70" "2" "29293839" "29293839" "subst" "3.25815E-5" "00000" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.29070973G>A" "" "likely pathogenic" "" "0000784234" "0" "70" "2" "29287898" "29287898" "subst" "0.00029369" "00000" "C2orf71_000063" "g.29287898G>A" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201933656" "0" "" "" "g.29065032G>A" "" "likely pathogenic (recessive)" "" "0000784247" "0" "70" "2" "29287880" "29287880" "subst" "0.000307414" "00000" "C2orf71_000062" "g.29287880G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29065014G>A" "" "likely pathogenic (recessive)" "" "0000784264" "0" "70" "2" "29297043" "29297043" "subst" "0.000254886" "00000" "C2orf71_000095" "g.29297043G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201706430" "0" "" "" "g.29074177G>A" "" "likely pathogenic (recessive)" "" "0000784292" "0" "50" "2" "29294163" "29294163" "subst" "0.000472921" "00000" "C2orf71_000077" "g.29294163G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs184281410" "0" "" "" "g.29071297G>C" "" "VUS" "" "0000784301" "0" "70" "2" "29294952" "29294952" "subst" "4.06101E-6" "00000" "C2orf71_000161" "g.29294952G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29072086G>C" "" "likely pathogenic (recessive)" "" "0000784302" "0" "70" "2" "29293751" "29293751" "subst" "4.06752E-6" "00000" "C2orf71_000158" "g.29293751G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29070885G>A" "" "likely pathogenic (recessive)" "" "0000784304" "0" "70" "2" "29296721" "29296721" "subst" "0.000170571" "00000" "C2orf71_000092" "g.29296721T>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29073855T>C" "" "likely pathogenic (recessive)" "" "0000784370" "0" "70" "2" "29293601" "29293601" "subst" "0.000190903" "00000" "C2orf71_000067" "g.29293601T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182812191" "0" "" "" "g.29070735T>C" "" "likely pathogenic (recessive)" "" "0000784388" "0" "70" "2" "29296359" "29296359" "subst" "0" "00000" "C2orf71_000162" "g.29296359T>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29073493T>A" "" "likely pathogenic (recessive)" "" "0000784508" "0" "50" "2" "29296889" "29296889" "subst" "2.84264E-5" "00000" "C2orf71_000163" "g.29296889T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29074023T>C" "" "VUS" "" "0000784516" "0" "50" "2" "29294643" "29294643" "subst" "0" "00000" "C2orf71_000160" "g.29294643G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29071777G>A" "" "VUS" "" "0000784522" "0" "50" "2" "29293851" "29293851" "subst" "2.44866E-5" "00000" "C2orf71_000159" "g.29293851T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29070985T>C" "" "VUS" "" "0000784550" "0" "50" "2" "29296721" "29296721" "subst" "0.000170571" "00000" "C2orf71_000092" "g.29296721T>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.29073855T>C" "" "VUS" "" "0000785593" "3" "90" "2" "29295333" "29295333" "subst" "8.12902E-6" "00000" "C2orf71_000015" "g.29295333A>G" "" "{PMID:González-del Pozo 2014:25544989}" "" "1795C>T" "" "Germline" "yes" "" "0" "" "" "g.29072467A>G" "" "pathogenic (recessive)" "" "0000787742" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Sanchez-Alcudia 2014:25342620}" "" "I210F" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000788099" "3" "90" "2" "29295003" "29295003" "del" "0" "00000" "C2orf71_000166" "g.29295003del" "" "{PMID:Oishi 2014:25324289}" "" "2126delG" "" "Germline" "" "" "0" "" "" "g.29072137del" "" "pathogenic" "" "0000788100" "3" "90" "2" "29294142" "29294142" "dup" "0" "00000" "C2orf71_000164" "g.29294142dup" "" "{PMID:Oishi 2014:25324289}" "" "2988dupC" "" "Germline" "" "" "0" "" "" "g.29071276dup" "" "pathogenic" "" "0000788345" "0" "50" "2" "29294264" "29294264" "subst" "0.00132795" "00000" "C2orf71_000078" "g.29294264C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G2864A" "" "Germline" "" "rs184249075" "0" "" "" "g.29071398C>T" "" "VUS" "" "0000788360" "0" "70" "2" "29287854" "29287854" "subst" "0" "00000" "C2orf71_000098" "g.29287854G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C3748T" "" "Germline" "" "" "0" "" "" "g.29064988G>A" "" "likely pathogenic" "" "0000788411" "0" "50" "2" "29297043" "29297043" "subst" "0.000254886" "00000" "C2orf71_000095" "g.29297043G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C85T" "" "Germline" "" "rs201706430" "0" "" "" "g.29074177G>A" "" "VUS" "" "0000788494" "0" "50" "2" "29294633" "29294633" "subst" "0" "00000" "C2orf71_000165" "g.29294633G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C2495T" "" "Germline" "" "" "0" "" "" "g.29071767G>A" "" "VUS" "" "0000788514" "0" "70" "2" "29297043" "29297043" "subst" "0.000254886" "00000" "C2orf71_000095" "g.29297043G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C85T" "" "Germline" "" "rs201706430" "0" "" "" "g.29074177G>A" "" "likely pathogenic" "" "0000790399" "1" "50" "2" "29294069" "29294070" "delins" "0" "00006" "C2orf71_000167" "g.29294069_29294070delinsCT" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790446" "0" "50" "2" "29287863" "29287863" "subst" "0.00836467" "00000" "C2orf71_000020" "g.29287863C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs187333111" "0" "" "" "g.29064997C>T" "" "VUS" "" "0000790510" "0" "50" "2" "29294528" "29294528" "subst" "0.00193996" "00000" "C2orf71_000006" "g.29294528G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs182248363" "0" "" "" "g.29071662G>A" "" "VUS" "" "0000790560" "0" "50" "2" "29287863" "29287863" "subst" "0.00836467" "00000" "C2orf71_000020" "g.29287863C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs187333111" "0" "" "" "g.29064997C>T" "" "VUS" "" "0000790630" "0" "50" "2" "29296944" "29296944" "subst" "0.000641635" "00000" "C2orf71_000169" "g.29296944G>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs76346220" "0" "" "" "g.29074078G>C" "" "VUS" "" "0000790658" "0" "50" "2" "29287863" "29287863" "subst" "0.00836467" "00000" "C2orf71_000020" "g.29287863C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs187333111" "0" "" "" "g.29064997C>T" "" "VUS" "" "0000790663" "0" "50" "2" "29294253" "29294253" "subst" "0.00411578" "00000" "C2orf71_000031" "g.29294253C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs192350796" "0" "" "" "g.29071387C>T" "" "VUS" "" "0000790741" "3" "70" "2" "29295364" "29295364" "del" "0" "00000" "C2orf71_000168" "g.29295364del" "" "{PMID:Coppieters 2014:24625443}" "" "" "" "Germline" "" "" "0" "" "" "g.29072498del" "" "likely pathogenic" "" "0000791622" "0" "50" "2" "29297043" "29297043" "subst" "0.000254886" "04521" "C2orf71_000095" "g.29297043G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.85C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs201706430" "0" "" "" "g.29074177G>A" "" "VUS" "ACMG" "0000793716" "0" "70" "2" "29294801" "29294801" "dup" "0" "00000" "C2orf71_000171" "g.29294801dup" "" "{PMID:Hebrard-2011:21792230}" "" "c.2327_2328insC (p.Leu777PhefsX34)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000793717" "0" "70" "2" "29294784" "29294800" "del" "0" "00000" "C2orf71_000170" "g.29294784_29294800del" "" "{PMID:Hebrard-2011:21792230}" "" "c.2328_2344del17 (p.Leu777AsnfsX28)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000793718" "0" "70" "2" "29294801" "29294801" "dup" "0" "00000" "C2orf71_000171" "g.29294801dup" "" "{PMID:Hebrard-2011:21792230}" "" "c.2327_2328insC (p.Leu777PhefsX34)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000793719" "0" "70" "2" "29294784" "29294800" "del" "0" "00000" "C2orf71_000170" "g.29294784_29294800del" "" "{PMID:Hebrard-2011:21792230}" "" "c.2328_2344del17 (p.Leu777AsnfsX28)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000794291" "3" "90" "2" "29296231" "29296231" "del" "0" "00000" "C2orf71_000173" "g.29296231del" "" "{PMID:Wang 2018:30029497}" "" "NM_001029883.2:c.898del, NP_001025054.1:p.(Leu300SerfsTer12), NC_000002.11:g.29296231del" "" "Germline" "?" "" "0" "" "" "g.29073365del" "" "pathogenic" "ACMG" "0000794737" "3" "90" "2" "29295753" "29295753" "del" "0" "00000" "C2orf71_000172" "g.29295753del" "" "{PMID:Patel 2018:30054919}" "" "NM_001029883.2:c.1377delT;p.(Phe459Leufs*39)" "" "Germline" "yes" "" "0" "" "" "g.29072887del" "" "pathogenic (recessive)" "ACMG" "0000794742" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_001029883.2:c.3002G>A; p.(Trp1001*)" "" "Germline" "yes" "rs36765" "0" "" "" "g.29071260C>T" "" "pathogenic (recessive)" "ACMG" "0000795064" "3" "90" "2" "29296725" "29296725" "subst" "0" "00000" "C2orf71_000139" "g.29296725C>A" "" "{PMID:Bocquet-2013:23350551}" "" "c.403G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795921" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Schorderet-2013:23484092}" "" "p.C2orf71-571_P576del" "Mother healthy heterozygous carrier" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795942" "0" "70" "2" "29294462" "29294462" "subst" "0.000267898" "00000" "C2orf71_000174" "g.29294462A>G" "" "{PMID:Schorderet-2013:23484092}" "" "p.C2orf71-L889P" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000795980" "0" "50" "2" "29295188" "29295188" "subst" "3.6569E-5" "00000" "C2orf71_000175" "g.29295188G>T" "" "{PMID:Chen-2013:23661368}" "" "c.1940C>A" "" "Unknown" "no" "" "0" "" "" "" "" "VUS" "" "0000795981" "0" "50" "2" "29293733" "29293733" "subst" "0.00273431" "00000" "C2orf71_000100" "g.29293733T>G" "" "{PMID:Chen-2013:23661368}" "" "c.3395A>C" "" "Unknown" "no" "rs78874550" "0" "" "" "" "" "VUS" "" "0000795982" "0" "50" "2" "29295741" "29295741" "subst" "0.00170155" "00000" "C2orf71_000043" "g.29295741C>A" "" "{PMID:Chen-2013:23661368}" "" "c.1387G>T" "" "Unknown" "no" "" "0" "" "" "" "" "VUS" "" "0000796025" "3" "90" "2" "29296359" "29296359" "subst" "0" "00000" "C2orf71_000162" "g.29296359T>A" "" "{PMID:Fu-2013:23661369}" "" "c.769A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796026" "3" "90" "2" "29296359" "29296359" "subst" "0" "00000" "C2orf71_000162" "g.29296359T>A" "" "{PMID:Fu-2013:23661369}" "" "c.769A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796167" "0" "70" "2" "29296181" "29296181" "del" "1.2186E-5" "00000" "C2orf71_000003" "g.29296181del" "" "{PMID:Neveling-2013:24123792}" "" "c.947del" "-" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000796168" "0" "70" "2" "29294958" "29294959" "del" "0" "00000" "C2orf71_000011" "g.29294958_29294959del" "" "{PMID:Neveling-2013:24123792}" "" "c.2169_2170del" "-" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000796668" "3" "90" "2" "29294360" "29294372" "del" "0" "00000" "C2orf71_000005" "g.29294360_29294372del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2756_2768del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796776" "0" "70" "2" "29295284" "29295284" "subst" "0.00334754" "00000" "C2orf71_000109" "g.29295284A>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1844T>A" "" "Germline" "" "rs140776870" "0" "" "" "" "" "likely pathogenic" "" "0000796798" "0" "70" "2" "29295284" "29295284" "subst" "0.00334754" "00000" "C2orf71_000109" "g.29295284A>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1844T>A" "" "Germline" "" "rs140776870" "0" "" "" "" "" "likely pathogenic" "" "0000796809" "0" "70" "2" "29295284" "29295284" "subst" "0.00334754" "00000" "C2orf71_000109" "g.29295284A>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1844T>A" "" "Germline" "" "rs140776870" "0" "" "" "" "" "likely pathogenic" "" "0000797547" "3" "70" "2" "29294143" "29294143" "dup" "0" "00000" "C2orf71_000177" "g.29294143dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "C2orf71 c.2985dup, p.(Pro996Serfs*111), c.2985dup, p.(Pro996Serfs*111)" "homozygous" "Germline" "?" "" "0" "" "" "g.29071277dup" "" "likely pathogenic" "ACMG" "0000797950" "0" "50" "2" "29287926" "29287926" "subst" "4.1344E-5" "00000" "C2orf71_000176" "g.29287926C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "C2orf71 c.3669-5G>A, p.(?), c.3676G>A, p.(Glu1226Lys)" "" "Germline" "?" "" "0" "" "" "g.29065060C>T" "" "VUS" "ACMG" "0000797951" "0" "50" "2" "29287938" "29287938" "subst" "9.1016E-5" "00000" "C2orf71_000065" "g.29287938C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "C2orf71 c.3669-5G>A, p.(?), c.3676G>A, p.(Glu1226Lys)" "" "Germline" "?" "" "0" "" "" "g.29065072C>T" "" "VUS" "ACMG" "0000800572" "0" "50" "2" "29294099" "29294099" "subst" "0.000143702" "01943" "C2orf71_000103" "g.29294099C>T" "" "" "" "PCARE(NM_001029883.2):c.3029G>A (p.R1010Q), PCARE(NM_001029883.3):c.3029G>A (p.R1010Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800573" "0" "50" "2" "29296725" "29296725" "subst" "0.000203059" "02325" "C2orf71_000127" "g.29296725C>T" "" "" "" "PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811438" "3" "70" "2" "29294161" "29294161" "del" "0" "00000" "C2orf71_000178" "g.29294161del" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.2967del (p.Val990Trpfs*45), Allele 2 c.2967del (p.Val990Trpfs*45)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29071295del" "" "likely pathogenic" "" "0000811822" "0" "70" "1" "29293751" "29293751" "subst" "0" "00000" "C2orf71_000158" "g.29293751G>A" "" "{PMID:Gao 2019:31054281}" "" "c.3377C>T, p.Ala1126Val" "heterozygous" "Germline" "?" "" "0" "" "" "g.29070885G>A" "" "likely pathogenic" "" "0000811857" "0" "70" "5" "29293812" "29293813" "del" "0" "00000" "C2orf71_000001" "g.29293812_29293813del" "" "{PMID:Gao 2019:31054281}" "" "c.3315_3316delTG, p.Ser1105Serfs27" "heterozygous, error in annotation:c.3315_3316delTG causes p.(Glu1106Argfs*26) instead of p.(Ser1105Serfs27)" "Germline" "?" "" "0" "" "" "g.29070946_29070947del" "" "likely pathogenic" "" "0000811939" "0" "70" "2" "29294805" "29294805" "subst" "2.43906E-5" "00000" "C2orf71_000179" "g.29294805C>T" "" "{PMID:Hariri 2018:31047384}" "" "p.Ala775Thr:c.2323G/A, p.Pro707Pro:c.2121A/T" "" "Germline" "?" "" "0" "" "" "g.29071939C>T" "" "likely pathogenic" "" "0000811940" "0" "70" "2" "29295007" "29295007" "subst" "0.000101524" "00000" "C2orf71_000180" "g.29295007T>A" "" "{PMID:Hariri 2018:31047384}" "" "p.Ala775Thr:c.2323G/A, p.Pro707Pro:c.2121A/T" "" "Germline" "?" "" "0" "" "" "g.29072141T>A" "" "likely pathogenic" "" "0000812137" "3" "70" "2" "29295135" "29295135" "dup" "0" "00000" "C2orf71_000181" "g.29295135dup" "" "{PMID:Martin Merida 2019:30902645}" "" "C2orf71 Ex.1 c.1993dup p.(Arg665Lysfs*15), Ex.1 c.1993dup p.(Arg665Lysfs*15)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29072269dup" "" "likely pathogenic" "" "0000812330" "3" "70" "2" "29294178" "29294178" "subst" "3.26044E-5" "00000" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "C2orf71 Ex.1 c.2950C>T p.(Arg984*), Ex.1 c.2950C>T p.(Arg984*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29071312G>A" "" "likely pathogenic" "" "0000814278" "3" "70" "2" "29295291" "29295291" "subst" "1.62747E-5" "00000" "C2orf71_000182" "g.29295291G>A" "" "{PMID:Chen 2020:31872526}" "" "C2orf71:NM_001029883:exon1:c.1837C>T:p.R613X" "homozygous" "Germline" "?" "" "0" "" "" "g.29072425G>A" "" "likely pathogenic" "" "0000815302" "0" "50" "2" "29295653" "29295653" "subst" "0" "00000" "C2orf71_000183" "g.29295653T>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "C2orf71:NM_001029883 c.A1475C, p.E492A" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.29072787T>G" "" "VUS" "ACMG" "0000815563" "0" "90" "2" "29296182" "29296182" "del" "0" "00000" "C2orf71_000003" "g.29296182del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "C2orf71:NM_001029883 c.947delA, p.(Asn316Metfs*7)" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.29073316del" "" "pathogenic" "ACMG" "0000815604" "0" "50" "2" "29294070" "29294070" "subst" "0.00745213" "00000" "C2orf71_000030" "g.29294070G>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "C2orf71:NM_001029883 c.C3058A, p.Q1020K" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.29071204G>T" "" "VUS" "ACMG" "0000817619" "0" "90" "2" "29295593" "29295593" "subst" "0" "00000" "C2orf71_000016" "g.29295593G>T" "" "{PMID:Liu 2017:27029556}" "" "p.Ser512*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000819935" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000819936" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000819987" "1" "70" "2" "29294178" "29294178" "subst" "3.26044E-5" "00000" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1 : c.2950C>T/p.R984*, variant 2 : c.2950C>T/p.R984*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29071312G>A" "" "likely pathogenic" "" "0000820094" "1" "70" "2" "29295325" "29295326" "del" "0" "00000" "C2orf71_000185" "g.29295325_29295326del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1804_1805del/p.H603Rfs*76, variant 2: c.3002G>A/p.W1001*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.29072459_29072460del" "" "likely pathogenic" "" "0000820197" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000820198" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000820210" "1" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.2756_2768del/p.K919Tfs*2, variant 2: c.2950C>T/p.R984*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000820374" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000820375" "1" "70" "2" "29296649" "29296650" "ins" "0" "00000" "C2orf71_000061" "g.29296649_29296650insT" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.478_479insA/p.C160* , variant 2: c.478_479insA/p.C160*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29073783_29073784insT" "" "likely pathogenic" "" "0000820392" "1" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.2756_2768del/p.K919Tfs*2 , variant 2: c.2756_2768del/p.K919Tfs*2" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000820393" "1" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.2756_2768del/p.K919Tfs*2 , variant 2: c.2756_2768del/p.K919Tfs*2" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000820404" "1" "70" "2" "29295588" "29295588" "del" "0" "00000" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1541del/p.P514Hfs*27, variant 2: c.1541del/p.P514Hfs*27" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29072722del" "" "likely pathogenic" "" "0000820559" "1" "70" "2" "29294751" "29294751" "dup" "0" "00000" "C2orf71_000184" "g.29294751dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.2380dup/p.M794Nfs*17, variant 2: c.2380dup/p.M794Nfs*17" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.29071885dup" "" "likely pathogenic" "" "0000820813" "1" "70" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.1804_1805del/p.H603Rfs*76, variant 2: c.3002G>A/p.W1001*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.29071260C>T" "" "likely pathogenic" "" "0000820843" "1" "70" "2" "29294178" "29294178" "subst" "3.26044E-5" "00000" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PCARE, variant 1: c.2756_2768del/p.K919Tfs*2, variant 2: c.2950C>T/p.R984*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.29071312G>A" "" "likely pathogenic" "" "0000821171" "3" "90" "2" "29296370" "29296370" "subst" "4.06147E-6" "00000" "C2orf71_000142" "g.29296370C>T" "" "{PMID:Turro 2020:32581362}" "" "C2orf71 c.758G>A, p.Trp253Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29073504C>T" "" "pathogenic" "" "0000821172" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Turro 2020:32581362}" "" "C2orf71 c.3002G>A, p.Trp1001Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29071260C>T" "" "pathogenic" "" "0000822042" "3" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Habibi 2020:32641690}" "" "C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2]" "homozygous" "Germline" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000822043" "3" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Habibi 2020:32641690}" "" "C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2]" "homozygous" "Germline" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000822044" "3" "70" "2" "29294363" "29294375" "del" "0" "00000" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Habibi 2020:32641690}" "" "C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2]" "homozygous" "Germline" "?" "" "0" "" "" "g.29071497_29071509del" "" "likely pathogenic" "" "0000822491" "0" "70" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Maggi_2021:33546218}" "" "PCARE:c.3002G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822492" "0" "70" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Maggi_2021:33546218}" "" "PCARE:c.3002G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822944" "3" "70" "2" "29293458" "29293458" "subst" "0" "00000" "C2orf71_000187" "g.29293458A>G" "" "{PMID:Méjécase 2020:32783370}" "" "C2orf71 c.3668+2T>C" "homozygous" "Unknown" "?" "" "0" "" "" "g.29070592A>G" "" "likely pathogenic" "" "0000824695" "3" "50" "2" "29296250" "29296250" "subst" "4.0659E-6" "00000" "C2orf71_000188" "g.29296250A>G" "" "{PMID:Ma 2021:33691693}" "" "C2orf71 c.T878C, p.L293P" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.29073384A>G" "" "VUS" "ACMG" "0000825724" "3" "70" "2" "29296230" "29296230" "del" "0" "00000" "C2orf71_000189" "g.29296230del" "" "{PMID:Liu-2020:33090715}" "" "c.898delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825864" "3" "70" "2" "29296230" "29296230" "del" "0" "00000" "C2orf71_000189" "g.29296230del" "" "{PMID:Liu-2020:33090715}" "" "c.898delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827192" "3" "50" "2" "29297120" "29297120" "subst" "0" "00000" "C2orf71_000190" "g.29297120C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.8G>A" "" "Germline" "" "rs1420546201" "0" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829420" "0" "50" "2" "27600408" "62081181" "dup" "0" "00006" "FAM161A_000000" "g.(?_27600408)_(62081181_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "27600408–62081181dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000834073" "0" "30" "2" "0" "0" "del" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Bhatia 2019:30851773}" "" "p.Arg346fs" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000845508" "0" "50" "2" "29294882" "29294882" "subst" "0" "00000" "C2orf71_000191" "g.29294882T>G" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.2246A>C" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000845520" "0" "30" "2" "29282400" "29282401" "ins" "0" "00000" "SNRNP200_000007" "g.29282400_29282401insGCT" "n/a" "{PMID:Borràs 2013:23534816}" "" "c.C9201_G9202insAGC" "Position is outside of the sequence range" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000845550" "0" "30" "2" "29282400" "29282401" "ins" "0" "00000" "SNRNP200_000007" "g.29282400_29282401insGCT" "n/a" "{PMID:Borràs 2013:23534816}" "" "c.C9201_G9202insAGC" "Position is outside of the sequence range" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000849852" "0" "10" "2" "29294626" "29294626" "subst" "0.0030697" "02330" "C2orf71_000193" "g.29294626A>G" "" "" "" "PCARE(NM_001029883.3):c.2502T>C (p.P834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849853" "0" "50" "2" "29297025" "29297025" "subst" "0.00069295" "01943" "C2orf71_000195" "g.29297025C>T" "" "" "" "PCARE(NM_001029883.2):c.103G>A (p.G35R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858493" "0" "30" "2" "29294425" "29294425" "subst" "0" "01943" "C2orf71_000192" "g.29294425G>A" "" "" "" "PCARE(NM_001029883.2):c.2703C>T (p.T901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858494" "0" "10" "2" "29294722" "29294722" "subst" "0.000824486" "02330" "C2orf71_000194" "g.29294722T>C" "" "" "" "PCARE(NM_001029883.3):c.2406A>G (p.A802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858495" "0" "50" "2" "29296598" "29296598" "subst" "0.000328942" "01943" "C2orf71_000130" "g.29296598G>A" "" "" "" "PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869972" "3" "70" "2" "29296355" "29296356" "del" "0" "04333" "C2orf71_000060" "g.29296355_29296356del" "" "{PMID:Ben Yosef 2023:37287645}" "" "776_777delAG" "" "Germline" "" "" "0" "" "" "g.29073489_29073490del" "" "pathogenic (recessive)" "" "0000869974" "3" "70" "2" "29296355" "29296356" "del" "0" "04333" "C2orf71_000060" "g.29296355_29296356del" "" "{PMID:Ben Yosef 2023:37287645}" "" "776_777delAG" "" "Germline" "" "" "0" "" "" "g.29073489_29073490del" "" "pathogenic (recessive)" "" "0000870302" "1" "90" "2" "29296181" "29296181" "del" "1.2186E-5" "00000" "C2orf71_000003" "g.29296181del" "1/418 patient chromosomes ; 0/242 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.946delA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000870303" "2" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "1/418 patient chromosomes ; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3002G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000870304" "1" "90" "2" "29294801" "29294801" "dup" "0" "00000" "C2orf71_000171" "g.29294801dup" "1/418 patient chromosomes ; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2327dupC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000870305" "2" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "00000" "C2orf71_000052" "g.29294178G>A" "1/418 patient chromosomes ; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2950C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000870306" "0" "70" "2" "29296014" "29296014" "subst" "3.24876E-5" "00000" "C2orf71_000205" "g.29296014C>T" "1/418 patient chromosomes ; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1114G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000870307" "0" "70" "2" "29295293" "29295293" "subst" "0.00028477" "00000" "C2orf71_000110" "g.29295293A>G" "1/418 patient chromosomes ; 0/192 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1835T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000870308" "0" "70" "2" "29295284" "29295284" "subst" "0.00334754" "00000" "C2orf71_000109" "g.29295284A>T" "2/418 patient chromosomes ; 0/192 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1844T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000870309" "0" "30" "2" "29296449" "29296449" "subst" "0.00785185" "00000" "C2orf71_000117" "g.29296449C>T" "5/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.679G>A" "" "Unknown" "no" "" "0" "" "" "" "" "likely benign" "" "0000870310" "0" "30" "2" "29296355" "29296355" "subst" "0.00237997" "00000" "C2orf71_000210" "g.29296355C>A" "1/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.773G>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870311" "0" "30" "2" "29296193" "29296193" "subst" "0" "00000" "C2orf71_000207" "g.29296193C>T" "1/418 patient chromosomes; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.935G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870312" "0" "30" "2" "29296170" "29296170" "subst" "0.000203131" "00000" "C2orf71_000206" "g.29296170G>A" "1/418 patient chromosomes; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.958C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870313" "0" "30" "2" "29295996" "29295996" "subst" "5.27957E-5" "00000" "C2orf71_000204" "g.29295996C>T" "1/418 patient chromosomes; 0/188 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1132G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870314" "0" "30" "2" "29295583" "29295583" "subst" "0.00107029" "00000" "C2orf71_000041" "g.29295583T>C" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1545A>G" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870315" "0" "30" "2" "29295246" "29295246" "subst" "0.00145941" "00000" "C2orf71_000039" "g.29295246C>T" "2/418 patient chromosomes; 0/192 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870316" "0" "30" "2" "29295065" "29295065" "subst" "0.00494639" "00000" "C2orf71_000107" "g.29295065C>T" "4/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2063G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870317" "0" "30" "2" "29294626" "29294626" "subst" "0.0030697" "00000" "C2orf71_000193" "g.29294626A>G" "2/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2502T>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870318" "0" "30" "2" "29294528" "29294528" "subst" "0.00193996" "00000" "C2orf71_000006" "g.29294528G>A" "1/418 patient homozygous for this variant patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2600C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870319" "0" "30" "2" "29294268" "29294268" "subst" "1.22278E-5" "00000" "C2orf71_000202" "g.29294268G>A" "1/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2860C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870320" "0" "30" "2" "29294264" "29294264" "subst" "0.00132795" "00000" "C2orf71_000078" "g.29294264C>T" "3/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2864G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870321" "0" "30" "2" "29294253" "29294253" "subst" "0.00411578" "00000" "C2orf71_000031" "g.29294253C>T" "2/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2875G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870322" "0" "30" "2" "29294239" "29294239" "subst" "0.0486596" "00000" "C2orf71_000201" "g.29294239G>A" "6/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.2889C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870323" "0" "30" "2" "29294069" "29294070" "delins" "0" "00000" "C2orf71_000167" "g.29294069_29294070delinsCT" "6/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3058_3059del CAinsAG" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870324" "0" "30" "2" "29293650" "29293650" "subst" "1.21933E-5" "00000" "C2orf71_000198" "g.29293650C>T" "1/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3478G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870325" "0" "30" "2" "29293598" "29293598" "subst" "6.09295E-5" "00000" "C2orf71_000025" "g.29293598C>T" "2/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3530G>A" "" "Unknown" "no" "" "0" "" "" "" "" "likely benign" "" "0000870326" "0" "30" "2" "29293837" "29293837" "subst" "0.0114744" "00000" "C2orf71_000199" "g.29293837C>T" "6/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3291G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870327" "0" "30" "2" "29293681" "29293681" "subst" "0.00338305" "00000" "C2orf71_000027" "g.29293681C>T" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3447G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870328" "0" "30" "2" "29293606" "29293606" "subst" "0.00279046" "00000" "C2orf71_000026" "g.29293606G>A" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3522C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870329" "0" "30" "2" "29287863" "29287863" "subst" "0.00836467" "00000" "C2orf71_000020" "g.29287863C>T" "4/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3739G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870330" "0" "30" "2" "29287927" "29287929" "dup" "0" "00000" "C2orf71_000009" "g.29287927_29287929dup" "105 patients heterozygous, 23 patients homozygous/418 patient chromosomes; 7/192 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3672_3674dup" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870331" "0" "30" "2" "29287762" "29287762" "subst" "0.00282184" "00000" "C2orf71_000197" "g.29287762C>T" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3840G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870332" "0" "30" "2" "29287813" "29287813" "subst" "0.00483253" "00000" "C2orf71_000018" "g.29287813C>T" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.3789G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000870333" "0" "10" "2" "29297091" "29297091" "subst" "0.0164682" "00000" "C2orf71_000122" "g.29297091T>A" "15 /418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.37A>T" "" "Unknown" "" "rs10084168" "0" "" "" "" "" "benign" "" "0000870334" "0" "10" "2" "29297068" "29297068" "subst" "0.163944" "00000" "C2orf71_000059" "g.29297068C>T" "120/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.60G>A" "" "Unknown" "" "rs35929540" "0" "" "" "" "" "benign" "" "0000870335" "0" "10" "2" "29296870" "29296870" "subst" "0.16309" "00000" "C2orf71_000058" "g.29296870C>T" "120/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.258G>A" "" "Unknown" "" "rs62132765" "0" "" "" "" "" "benign" "" "0000870336" "0" "10" "2" "29296762" "29296762" "subst" "0.00242034" "00000" "C2orf71_000213" "g.29296762A>G" "1/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.366C>T" "" "Unknown" "" "rs17007546" "0" "" "" "" "" "benign" "" "0000870337" "0" "10" "2" "29296388" "29296388" "subst" "0.00238409" "00000" "C2orf71_000211" "g.29296388A>G" "1/418 patient chromosomes; 0/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.740T>T" "" "Unknown" "" "rs77828062" "0" "" "" "" "" "benign" "" "0000870338" "0" "10" "2" "29296373" "29296373" "subst" "0.0062102" "00000" "C2orf71_000010" "g.29296373G>T" "10/418 patient chromosomes; 1/190 control chromosomes" "{PMID:Audo 2011:21412943}" "" "c.755C>A" "" "Unknown" "" "rs29149877" "0" "" "" "" "" "benign" "" "0000870339" "0" "10" "2" "29295866" "29295866" "subst" "0.0675501" "00000" "C2orf71_000057" "g.29295866T>C" "12/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1262A>G" "" "Unknown" "" "rs17007544" "0" "" "" "" "" "benign" "" "0000870340" "0" "10" "2" "29295676" "29295676" "subst" "0.26329" "00000" "C2orf71_000056" "g.29295676G>A" "151/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1452C>T" "" "Unknown" "" "rs13385188" "0" "" "" "" "" "benign" "" "0000870341" "0" "10" "2" "29295389" "29295389" "subst" "0.100849" "00000" "C2orf71_000055" "g.29295389G>A" "33/418 patient chromosomes" "{PMID:Audo 2011:21412943}" "" "c.1739C>T" "" "Unknown" "" "rs10166913" "0" "" "" "" "" "benign" "" "0000870343" "1" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1709_1728del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870344" "2" "90" "2" "29294900" "29294901" "del" "0" "00000" "C2orf71_000153" "g.29294900_29294901del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.2227_2228del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870345" "1" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1709_1728del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870346" "2" "90" "2" "29294900" "29294901" "del" "0" "00000" "C2orf71_000153" "g.29294900_29294901del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.2227_2228del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870347" "3" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1709_1728del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870348" "3" "90" "2" "29295400" "29295419" "del" "0" "00000" "C2orf71_000154" "g.29295400_29295419del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1709_1728del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870349" "3" "70" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.3002G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870350" "3" "70" "2" "29295179" "29295179" "subst" "1.62488E-5" "00000" "C2orf71_000137" "g.29295179C>T" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1949G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870351" "3" "70" "2" "29296208" "29296208" "subst" "4.06398E-6" "00000" "C2orf71_000208" "g.29296208A>T" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.920T>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870352" "1" "70" "2" "29293524" "29293524" "subst" "8.12466E-6" "00000" "C2orf71_000155" "g.29293524G>A" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.3604C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870353" "2" "70" "2" "29296723" "29296726" "del" "8.12249E-6" "00000" "C2orf71_000212" "g.29296723_29296726del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.402_405del" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870354" "1" "70" "2" "29295855" "29295855" "subst" "8.12189E-6" "00000" "C2orf71_000156" "g.29295855G>A" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1273C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870355" "2" "70" "2" "29294126" "29294126" "subst" "4.07764E-5" "00000" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.3002G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870356" "3" "90" "2" "29295921" "29295922" "dup" "0" "00000" "C2orf71_000203" "g.29295921_29295922dup" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1206_1207dup" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870357" "1" "90" "2" "29294360" "29294372" "del" "0" "00000" "C2orf71_000005" "g.29294360_29294372del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.2756_2768del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870358" "2" "90" "2" "29296326" "29296326" "subst" "0" "00000" "C2orf71_000209" "g.29296326G>A" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.802C>T" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870359" "1" "70" "2" "29295291" "29295291" "subst" "1.62747E-5" "00000" "C2orf71_000182" "g.29295291G>A" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.1837C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870360" "2" "70" "2" "29293769" "29293770" "del" "0" "00000" "C2orf71_000070" "g.29293769_29293770del" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.3358_3359del" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000870361" "3" "90" "2" "29296649" "29296650" "ins" "0" "00000" "C2orf71_000061" "g.29296649_29296650insT" "" "{PMID:Gerth Kahlert 2017:28763557}" "" "c.478_479insA" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870362" "21" "70" "2" "29294089" "29294089" "dup" "0" "00000" "C2orf71_000200" "g.29294089dup" "" "{PMID:Serra 2019:31819343}" "" "c.3039dupC: p.Ser1014Leufs*93" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000870363" "11" "70" "2" "29295323" "29295324" "del" "0" "00000" "C2orf71_000185" "g.29295323_29295324del" "" "{PMID:Serra 2019:31819343}" "" "c.1804_1805delAG:p. His603Argfs*77" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000881433" "3" "90" "2" "29293743" "29293744" "del" "0" "04405" "C2orf71_000214" "g.29293743_29293744del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.29070877_29070878del" "" "pathogenic" "ACMG" "0000885123" "0" "30" "2" "29295028" "29295028" "subst" "0" "02330" "C2orf71_000215" "g.29295028C>T" "" "" "" "PCARE(NM_001029883.3):c.2100G>A (p.G700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915858" "3" "90" "2" "29295323" "29295324" "del" "0" "04436" "C2orf71_000185" "g.29295323_29295324del" "" "{PMID:Panneman 2023:36819107}" "" "c.1804_1805del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915859" "1" "90" "2" "29294748" "29294748" "dup" "0" "04436" "C2orf71_000184" "g.29294748dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2380dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915860" "2" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "04436" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.3002G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915976" "1" "90" "2" "29294953" "29294953" "subst" "4.06128E-6" "04436" "C2orf71_000220" "g.29294953A>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2175T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915977" "2" "90" "2" "29294333" "29294339" "dup" "0" "04436" "C2orf71_000218" "g.29294333_29294339dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2789_2795dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916084" "3" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "04436" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2950C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916100" "1" "70" "2" "29294670" "29294670" "dup" "0" "04436" "C2orf71_000219" "g.29294670dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2458dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916101" "2" "90" "2" "29294306" "29294306" "subst" "0" "04436" "C2orf71_000217" "g.29294306C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2822G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916168" "1" "50" "2" "29296400" "29296400" "subst" "0" "04436" "C2orf71_000223" "g.29296400A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.728T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916169" "2" "70" "2" "29293816" "29293819" "dup" "0" "04436" "C2orf71_000216" "g.29293816_29293819dup" "" "{PMID:Panneman 2023:36819107}" "" "c.3309_3312dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916205" "3" "90" "2" "29293524" "29293524" "subst" "8.12466E-6" "04436" "C2orf71_000155" "g.29293524G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.3604C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916237" "1" "90" "2" "29295899" "29295899" "del" "0" "04436" "C2orf71_000222" "g.29295899del" "" "{PMID:Panneman 2023:36819107}" "" "c.1229del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916238" "2" "70" "2" "29294670" "29294670" "dup" "0" "04436" "C2orf71_000219" "g.29294670dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2458dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916384" "3" "50" "2" "29297120" "29297120" "subst" "0" "04436" "C2orf71_000190" "g.29297120C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.8G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916508" "3" "70" "2" "29295128" "29295128" "del" "0" "04436" "C2orf71_000221" "g.29295128del" "" "{PMID:Panneman 2023:36819107}" "" "c.2000del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916524" "3" "90" "2" "29294360" "29294372" "del" "0" "04436" "C2orf71_000005" "g.29294360_29294372del" "" "{PMID:Panneman 2023:36819107}" "" "c.2756_2768del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916568" "3" "90" "2" "29294178" "29294178" "subst" "3.26044E-5" "04436" "C2orf71_000052" "g.29294178G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2950C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931890" "0" "70" "2" "29295516" "29295516" "subst" "0" "00006" "C2orf71_000224" "g.29295516G>T" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.29072650G>T" "" "VUS" "" "0000958072" "3" "90" "2" "29295588" "29295588" "del" "0" "00006" "C2orf71_000186" "g.29295588del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29072722del" "871084" "pathogenic (recessive)" "ACMG" "0000958150" "0" "90" "2" "29294424" "29294424" "subst" "0" "00006" "C2orf71_000096" "g.29294424T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29071558T>A" "987347" "pathogenic (recessive)" "ACMG" "0000958172" "0" "90" "2" "29294167" "29294167" "del" "0" "00006" "C2orf71_000145" "g.29294167del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29071301del" "" "pathogenic (recessive)" "ACMG" "0000958173" "0" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "00006" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.29071260C>T" "438048" "pathogenic (recessive)" "ACMG" "0000958178" "0" "90" "2" "29294424" "29294424" "subst" "0" "00006" "C2orf71_000096" "g.29294424T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29071558T>A" "" "pathogenic (recessive)" "ACMG" "0000958498" "0" "90" "2" "29296355" "29296356" "del" "0" "00006" "C2orf71_000060" "g.29296355_29296356del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29073489_29073490del" "812239" "pathogenic (recessive)" "ACMG" "0000958515" "0" "90" "2" "29294167" "29294167" "dup" "0" "00006" "C2orf71_000146" "g.29294167dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29071301dup" "" "pathogenic (recessive)" "ACMG" "0000958516" "0" "90" "2" "29293839" "29293839" "subst" "3.25815E-5" "00006" "C2orf71_000014" "g.29293839G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29070973G>A" "812237" "pathogenic (recessive)" "ACMG" "0000958523" "0" "90" "2" "29294363" "29294375" "del" "0" "00006" "C2orf71_000005" "g.29294363_29294375del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.29071497_29071509del" "105" "pathogenic (recessive)" "ACMG" "0000959040" "0" "50" "2" "29296133" "29296133" "subst" "4.06564E-6" "00006" "C2orf71_000225" "g.29296133G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.29073267G>T" "" "VUS" "ACMG" "0000975216" "0" "50" "2" "29287938" "29287939" "ins" "3.50062E-5" "01804" "C2orf71_000124" "g.29287938_29287939insT" "" "" "" "C2orf71(NM_001029883.2):c.3669-6_3669-5insA, PCARE(NM_001029883.3):c.3669-6_3669-5insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975217" "0" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "01804" "C2orf71_000051" "g.29294126C>T" "" "" "" "PCARE(NM_001029883.3):c.3002G>A (p.(Trp1001Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975218" "0" "30" "2" "29295546" "29295546" "subst" "0.00101811" "02330" "C2orf71_000088" "g.29295546G>A" "" "" "" "C2orf71(NM_001029883.2):c.1582C>T (p.R528C), PCARE(NM_001029883.3):c.1582C>T (p.R528C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975219" "0" "50" "2" "29296598" "29296598" "subst" "0.000328942" "01804" "C2orf71_000130" "g.29296598G>A" "" "" "" "PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986477" "1" "90" "2" "29295179" "29295179" "subst" "1.62488E-5" "04405" "C2orf71_000137" "g.29295179C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29072313C>T" "" "pathogenic" "ACMG" "0000986478" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "04405" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29071260C>T" "" "pathogenic" "ACMG" "0000986479" "3" "70" "2" "29293671" "29293671" "del" "0" "04405" "C2orf71_000226" "g.29293671del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29070805del" "" "likely pathogenic" "ACMG" "0000986480" "1" "90" "2" "29296208" "29296208" "subst" "4.06398E-6" "04405" "C2orf71_000208" "g.29296208A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29073342A>T" "" "pathogenic" "ACMG" "0000986481" "3" "90" "2" "29293524" "29293524" "subst" "8.12466E-6" "04405" "C2orf71_000155" "g.29293524G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29070658G>A" "" "pathogenic" "ACMG" "0000986482" "3" "90" "2" "29294794" "29294794" "subst" "4.06471E-6" "04405" "C2orf71_000227" "g.29294794A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29071928A>C" "" "pathogenic" "ACMG" "0000986483" "3" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "04405" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29071260C>T" "" "pathogenic" "ACMG" "0000986484" "1" "90" "2" "29295144" "29295144" "dup" "0" "04405" "C2orf71_000228" "g.29295144dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29072278dup" "" "pathogenic" "ACMG" "0000986485" "3" "90" "2" "29295144" "29295144" "dup" "0" "04405" "C2orf71_000228" "g.29295144dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29072278dup" "" "pathogenic" "ACMG" "0000986486" "3" "90" "2" "29296314" "29296314" "subst" "0" "04405" "C2orf71_000231" "g.29296314G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29073448G>A" "" "pathogenic" "ACMG" "0000986487" "3" "90" "2" "29296314" "29296314" "subst" "0" "04405" "C2orf71_000231" "g.29296314G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29073448G>A" "" "pathogenic" "ACMG" "0000986488" "1" "70" "2" "29296712" "29296712" "del" "0" "04405" "C2orf71_000232" "g.29296712del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29073846del" "" "likely pathogenic" "ACMG" "0000986941" "2" "90" "2" "29294126" "29294126" "subst" "4.07764E-5" "04405" "C2orf71_000051" "g.29294126C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29071260C>T" "" "pathogenic" "ACMG" "0000986942" "2" "70" "2" "29295303" "29295303" "del" "0" "04405" "C2orf71_000229" "g.29295303del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29072437del" "" "likely pathogenic" "ACMG" "0000986943" "2" "70" "2" "29294794" "29294794" "subst" "4.06471E-6" "04405" "C2orf71_000227" "g.29294794A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29071928A>C" "" "likely pathogenic" "ACMG" "0000986944" "2" "50" "2" "29296211" "29296211" "subst" "0" "04405" "C2orf71_000230" "g.29296211T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.29073345T>G" "" "VUS" "ACMG" "0001013719" "0" "50" "2" "29294718" "29294718" "subst" "0" "02327" "C2orf71_000233" "g.29294718T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013720" "0" "50" "2" "29296233" "29296233" "subst" "8.13385E-6" "02327" "C2orf71_000234" "g.29296233A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022293" "3" "90" "2" "29293671" "29293671" "del" "0" "00006" "C2orf71_000226" "g.29293671del" "" "{PMID:Midgley 2024:39676705}" "" "3461delG" "" "Germline" "" "" "0" "" "" "g.29070805del" "" "pathogenic" "" "0001033280" "0" "50" "2" "29294819" "29294819" "subst" "0.000121947" "01804" "C2orf71_000235" "g.29294819T>C" "" "" "" "PCARE(NM_001029883.3):c.2309A>G (p.(Lys770Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033281" "0" "30" "2" "29295081" "29295081" "subst" "0" "01804" "C2orf71_000236" "g.29295081T>C" "" "" "" "PCARE(NM_001029883.3):c.2047A>G (p.(Ser683Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033282" "0" "30" "2" "29295377" "29295377" "subst" "0" "01804" "C2orf71_000112" "g.29295377C>T" "" "" "" "PCARE(NM_001029883.3):c.1751G>A (p.(Ser584Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 C2orf71 ## Count = 475 "{{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}}" "0000059531" "00003690" "90" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Trp253*)" "1" "0000059532" "00003690" "90" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Trp253*)" "1" "0000059533" "00003690" "90" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Trp253*)" "1" "0000059534" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059535" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059536" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059537" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059538" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059539" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059540" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059541" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059542" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059543" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059544" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059545" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059546" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059547" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059548" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059549" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059550" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059551" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000059552" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059553" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059554" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059555" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059556" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059557" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059558" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059559" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000059560" "00003690" "10" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "1" "0000059561" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "1" "0000059562" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "1" "0000059563" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "1" "0000059564" "00003690" "90" "1525" "0" "1525" "0" "c.1525del" "r.(?)" "p.(Thr509Leufs*32)" "1" "0000059565" "00003690" "90" "1525" "0" "1525" "0" "c.1525del" "r.(?)" "p.(Thr509Leufs*32)" "1" "0000059566" "00003690" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Ile201Phe)" "1" "0000059567" "00003690" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Ile201Phe)" "1" "0000059568" "00003690" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Ile201Phe)" "1" "0000059569" "00003690" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Ile201Phe)" "1" "0000059570" "00003690" "50" "3265" "0" "3267" "0" "c.3265_3267del" "r.(?)" "p.(Pro1089del)" "1" "0000059571" "00003690" "50" "3265" "0" "3267" "0" "c.3265_3267del" "r.(?)" "p.(Pro1089del)" "1" "0000059572" "00003690" "50" "3673" "0" "3675" "0" "c.3673_3675dup" "r.(?)" "p.(Ser1225dup)" "1" "0000059573" "00003690" "50" "755" "0" "755" "0" "c.755C>A" "r.(?)" "p.(Ala252Asp)" "1" "0000059574" "00003690" "70" "2169" "0" "2170" "0" "c.2169_2170del" "r.(?)" "p.(Gly724Leufs*12)" "1" "0000059575" "00003690" "70" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000059576" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "1" "0000059577" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "1" "0000059578" "00003690" "70" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Cys599Arg)" "1" "0000059579" "00003690" "70" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Cys599Arg)" "1" "0000094913" "00003690" "90" "1535" "0" "1535" "0" "c.1535C>A" "r.(?)" "p.(Ser512*)" "1" "0000170886" "00003690" "90" "1067" "0" "1068" "0" "c.1067_1068del" "r.(?)" "p.(Asn356Argfs*101)" "1" "0000246069" "00003690" "50" "740" "0" "740" "0" "c.740T>A" "r.(?)" "p.(Val247Asp)" "" "0000253649" "00003690" "10" "2112" "0" "2112" "0" "c.2112T>C" "r.(?)" "p.(Asn704=)" "" "0000254841" "00003690" "30" "3177" "0" "3177" "0" "c.3177T>C" "r.(?)" "p.(Pro1059=)" "" "0000263847" "00003690" "10" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Val463Ile)" "" "0000263848" "00003690" "10" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(Gln515=)" "" "0000263850" "00003690" "10" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(Asp694=)" "" "0000263851" "00003690" "10" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Ser730=)" "" "0000263852" "00003690" "10" "2529" "0" "2529" "0" "c.2529C>T" "r.(?)" "p.(Phe843=)" "" "0000263854" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "" "0000263855" "00003690" "10" "2601" "0" "2601" "0" "c.2601G>A" "r.(?)" "p.(Pro867=)" "" "0000263856" "00003690" "10" "2875" "0" "2875" "0" "c.2875G>A" "r.(?)" "p.(Ala959Thr)" "" "0000263857" "00003690" "30" "3447" "0" "3447" "0" "c.3447G>A" "r.(?)" "p.(Pro1149=)" "" "0000263858" "00003690" "10" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Asp1174=)" "" "0000263859" "00003690" "30" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177Gln)" "" "0000263860" "00003690" "10" "3705" "0" "3705" "0" "c.3705G>A" "r.(?)" "p.(Pro1235=)" "" "0000263861" "00003690" "10" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000263862" "00003690" "10" "3789" "0" "3789" "0" "c.3789G>A" "r.(?)" "p.(Leu1263=)" "" "0000272280" "00003690" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Val359Met)" "" "0000272281" "00003690" "10" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Val463Phe)" "" "0000272283" "00003690" "10" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "" "0000272284" "00003690" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Ala646Thr)" "" "0000272285" "00003690" "90" "2169" "0" "2170" "0" "c.2169_2170del" "r.(?)" "p.(Gly724LeufsTer12)" "" "0000272286" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "" "0000272287" "00003690" "10" "2875" "0" "2875" "0" "c.2875G>A" "r.(?)" "p.(Ala959Thr)" "" "0000272288" "00003690" "50" "3058" "0" "3058" "0" "c.3058C>A" "r.(?)" "p.(Gln1020Lys)" "" "0000272289" "00003690" "50" "3059" "0" "3059" "0" "c.3059A>G" "r.(?)" "p.(Gln1020Arg)" "" "0000272290" "00003690" "10" "3447" "0" "3447" "0" "c.3447G>A" "r.(?)" "p.(Pro1149=)" "" "0000272291" "00003690" "50" "3605" "0" "3605" "0" "c.3605G>A" "r.(?)" "p.(Arg1202Gln)" "" "0000272292" "00003690" "10" "3626" "0" "3626" "0" "c.3626A>G" "r.(?)" "p.(Asp1209Gly)" "" "0000272293" "00003690" "30" "3660" "0" "3660" "0" "c.3660C>T" "r.(?)" "p.(Gly1220=)" "" "0000272294" "00003690" "30" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000272295" "00003690" "30" "3761" "0" "3761" "0" "c.3761C>T" "r.(?)" "p.(Pro1254Leu)" "" "0000272296" "00003690" "30" "462" "0" "462" "0" "c.462A>G" "r.(?)" "p.(Ser154=)" "" "0000272297" "00003690" "50" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Ala167Val)" "" "0000337657" "00003690" "10" "3894" "0" "3894" "0" "c.*27G>A" "r.(=)" "p.(=)" "" "0000337658" "00003690" "10" "3668" "14" "3668" "14" "c.3668+14T>C" "r.(=)" "p.(=)" "" "0000337659" "00003690" "10" "2374" "0" "2374" "0" "c.2374C>G" "r.(?)" "p.(Leu792Val)" "" "0000339795" "00003690" "10" "2112" "0" "2112" "0" "c.2112T>C" "r.(?)" "p.(Asn704=)" "" "0000339796" "00003690" "10" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ser484=)" "" "0000339797" "00003690" "10" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Arg86=)" "" "0000339798" "00003690" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Gln20=)" "" "0000343536" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984Ter)" "" "0000343706" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316MetfsTer7)" "" "0000347565" "00003690" "10" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Lys421Arg)" "" "0000349572" "00003690" "10" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Thr580Met)" "" "0000349670" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "" "0000358181" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "1" "0000358182" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "1" "0000358183" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000358184" "00003690" "90" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259Alafs*51)" "1" "0000358185" "00003690" "90" "478" "0" "479" "0" "c.478_479insA" "r.(?)" "p.(Cys160*)" "1" "0000358414" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000358415" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000476062" "00003690" "10" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000476063" "00003690" "50" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ser1241Phe)" "" "0000476064" "00003690" "90" "3704" "0" "3704" "0" "c.3704C>T" "r.(?)" "p.(Pro1235Leu)" "" "0000476065" "00003690" "50" "3696" "0" "3696" "0" "c.3696C>A" "r.(?)" "p.(Asp1232Glu)" "" "0000476066" "00003690" "10" "3673" "0" "3675" "0" "c.3673_3675dup" "r.(?)" "p.(Ser1225dup)" "" "0000476067" "00003690" "50" "3669" "-5" "3669" "-5" "c.3669-5G>A" "r.spl?" "p.?" "" "0000476068" "00003690" "50" "3590" "0" "3590" "0" "c.3590G>A" "r.(?)" "p.(Arg1197His)" "" "0000476069" "00003690" "50" "3527" "0" "3527" "0" "c.3527A>G" "r.(?)" "p.(Gln1176Arg)" "" "0000476070" "00003690" "50" "3469" "0" "3469" "0" "c.3469G>A" "r.(?)" "p.(Gly1157Arg)" "" "0000476071" "00003690" "50" "3404" "0" "3404" "0" "c.3404C>T" "r.(?)" "p.(Pro1135Leu)" "" "0000476072" "00003690" "90" "3358" "0" "3359" "0" "c.3358_3359del" "r.(?)" "p.(His1120Phefs*12)" "" "0000476073" "00003690" "50" "3356" "0" "3356" "0" "c.3356C>T" "r.(?)" "p.(Thr1119Ile)" "" "0000476074" "00003690" "50" "3271" "0" "3271" "0" "c.3271C>T" "r.(?)" "p.(Pro1091Ser)" "" "0000476075" "00003690" "50" "3216" "0" "3216" "0" "c.3216C>A" "r.(?)" "p.(Ser1072Arg)" "" "0000476076" "00003690" "50" "3184" "0" "3184" "0" "c.3184G>C" "r.(?)" "p.(Glu1062Gln)" "" "0000476077" "00003690" "50" "3152" "0" "3152" "0" "c.3152C>T" "r.(?)" "p.(Pro1051Leu)" "" "0000476078" "00003690" "50" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Ala994Thr)" "" "0000476079" "00003690" "50" "2965" "0" "2965" "0" "c.2965C>G" "r.(?)" "p.(Pro989Ala)" "" "0000476080" "00003690" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000476081" "00003690" "50" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Glu935Lys)" "" "0000476082" "00003690" "50" "2765" "0" "2765" "0" "c.2765T>C" "r.(?)" "p.(Leu922Pro)" "" "0000476083" "00003690" "50" "2714" "0" "2714" "0" "c.2714G>A" "r.(?)" "p.(Ser905Asn)" "" "0000476084" "00003690" "50" "2570" "0" "2570" "0" "c.2570A>C" "r.(?)" "p.(Asn857Thr)" "" "0000476085" "00003690" "50" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(Ala844Thr)" "" "0000476086" "00003690" "50" "2482" "0" "2482" "0" "c.2482G>A" "r.(?)" "p.(Glu828Lys)" "" "0000476087" "00003690" "50" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Cys821Tyr)" "" "0000476088" "00003690" "10" "2374" "0" "2374" "0" "c.2374C>G" "r.(?)" "p.(Leu792Val)" "" "0000476089" "00003690" "50" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "" "0000476090" "00003690" "50" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Thr592Met)" "" "0000476091" "00003690" "10" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Thr580Met)" "" "0000476092" "00003690" "50" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000476093" "00003690" "50" "1490" "0" "1490" "0" "c.1490T>G" "r.(?)" "p.(Met497Arg)" "" "0000476094" "00003690" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Leu469Phe)" "" "0000476095" "00003690" "10" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Lys421Arg)" "" "0000476096" "00003690" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "" "0000476097" "00003690" "90" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Glu136Gly)" "" "0000476098" "00003690" "50" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Gly120Arg)" "" "0000476099" "00003690" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Gly34Ser)" "" "0000476100" "00003690" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "" "0000477440" "00003690" "10" "3673" "0" "3675" "0" "c.3673_3675dup" "r.(?)" "p.(Ser1225dup)" "" "0000477441" "00003690" "10" "2374" "0" "2374" "0" "c.2374C>G" "r.(?)" "p.(Leu792Val)" "" "0000477442" "00003690" "10" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Thr580Met)" "" "0000477443" "00003690" "50" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000477444" "00003690" "10" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Lys421Arg)" "" "0000477445" "00003690" "50" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Gly120Arg)" "" "0000478751" "00003690" "90" "2704" "0" "2704" "0" "c.2704A>T" "r.(?)" "p.(Lys902*)" "" "0000478752" "00003690" "90" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259Alafs*51)" "" "0000515616" "00003690" "30" "3839" "0" "3839" "0" "c.3839C>A" "r.(?)" "p.(Ala1280Glu)" "" "0000515617" "00003690" "10" "3789" "0" "3789" "0" "c.3789G>A" "r.(?)" "p.(Leu1263=)" "" "0000515618" "00003690" "50" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Arg1250Cys)" "" "0000515619" "00003690" "30" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000515620" "00003690" "30" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(Ser1223=)" "" "0000515621" "00003690" "50" "3660" "0" "3660" "0" "c.3660C>T" "r.(?)" "p.(Gly1220=)" "" "0000515622" "00003690" "30" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Asp1174=)" "" "0000515623" "00003690" "30" "3395" "0" "3395" "0" "c.3395A>C" "r.(?)" "p.(Glu1132Ala)" "" "0000515624" "00003690" "50" "3395" "0" "3395" "0" "c.3395A>C" "r.(?)" "p.(Glu1132Ala)" "" "0000515625" "00003690" "30" "3254" "0" "3254" "0" "c.3254C>T" "r.(?)" "p.(Ser1085Leu)" "" "0000515626" "00003690" "30" "3184" "0" "3184" "0" "c.3184G>C" "r.(?)" "p.(Glu1062Gln)" "" "0000515627" "00003690" "10" "3178" "0" "3178" "0" "c.3178C>A" "r.(?)" "p.(Pro1060Thr)" "" "0000515630" "00003690" "10" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010Gln)" "" "0000515631" "00003690" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000515632" "00003690" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000515633" "00003690" "30" "2708" "0" "2708" "0" "c.2708C>A" "r.(?)" "p.(Pro903His)" "" "0000515634" "00003690" "90" "2598" "0" "2598" "0" "c.2598dup" "r.(?)" "p.(Pro867AlafsTer240)" "" "0000515635" "00003690" "30" "2539" "0" "2539" "0" "c.2539G>C" "r.(?)" "p.(Glu847Gln)" "" "0000515637" "00003690" "50" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Arg656Ser)" "" "0000515638" "00003690" "30" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "" "0000515641" "00003690" "50" "1835" "0" "1835" "0" "c.1835T>C" "r.(?)" "p.(Leu612Pro)" "" "0000515642" "00003690" "50" "1795" "0" "1795" "0" "c.1795T>A" "r.(?)" "p.(Cys599Ser)" "" "0000515643" "00003690" "30" "1751" "0" "1751" "0" "c.1751G>A" "r.(?)" "p.(Ser584Asn)" "" "0000515644" "00003690" "30" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000515645" "00003690" "90" "1545" "0" "1545" "0" "c.1545dup" "r.(?)" "p.(Ser516IlefsTer5)" "" "0000515646" "00003690" "90" "1545" "0" "1545" "0" "c.1545dup" "r.(?)" "p.(Ser516IlefsTer5)" "" "0000515647" "00003690" "70" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320His)" "" "0000515648" "00003690" "90" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Arg320AlafsTer3)" "" "0000515649" "00003690" "50" "814" "0" "814" "0" "c.814C>A" "r.(?)" "p.(Gln272Lys)" "" "0000515651" "00003690" "50" "740" "0" "740" "0" "c.740T>A" "r.(?)" "p.(Val247Asp)" "" "0000515652" "00003690" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "" "0000515653" "00003690" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ser143Phe)" "" "0000515654" "00003690" "30" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Asp132=)" "" "0000515655" "00003690" "30" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" "" "0000515656" "00003690" "10" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Gly34=)" "" "0000515657" "00003690" "30" "37" "0" "37" "0" "c.37A>T" "r.(?)" "p.(Ser13Cys)" "" "0000607898" "00003690" "30" "3669" "-5" "3669" "-4" "c.3669-5_3669-4insCA" "r.spl?" "p.?" "" "0000607899" "00003690" "30" "3669" "-6" "3669" "-5" "c.3669-6_3669-5insA" "r.spl?" "p.?" "" "0000607900" "00003690" "30" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Lys860=)" "" "0000621026" "00003690" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Ser730=)" "" "0000621027" "00003690" "30" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Pro177=)" "" "0000621028" "00003690" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000650563" "00003690" "50" "4850" "0" "4850" "0" "c.*983G>A" "r.(=)" "p.(=)" "" "0000650564" "00003690" "50" "3058" "0" "3058" "0" "c.3058C>A" "r.(?)" "p.(Gln1020Lys)" "" "0000650565" "00003690" "30" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" "p.(Ile783Thr)" "" "0000650566" "00003690" "50" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0000664284" "00003690" "30" "3527" "0" "3527" "0" "c.3527A>G" "r.(?)" "p.(Gln1176Arg)" "" "0000676614" "00003690" "50" "3370" "0" "3370" "0" "c.3370T>C" "r.(?)" "p.(Cys1124Arg)" "" "0000676615" "00003690" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Pro806=)" "" "0000676616" "00003690" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Glu429Lys)" "" "0000676617" "00003690" "30" "879" "0" "879" "0" "c.879G>T" "r.(?)" "p.(Leu293=)" "" "0000676618" "00003690" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Thr289=)" "" "0000676619" "00003690" "30" "537" "0" "537" "0" "c.537T>C" "r.(?)" "p.(Pro179=)" "" "0000684412" "00003690" "70" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000684413" "00003690" "70" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Trp650*)" "1" "0000685045" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000685047" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "" "0000685048" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000685049" "00003690" "90" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259Alafs*51)" "" "0000685050" "00003690" "70" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Ile236Ser)" "" "0000685051" "00003690" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "" "0000685052" "00003690" "90" "478" "0" "479" "0" "c.478_479insA" "r.(?)" "p.(Cys160*)" "" "0000685637" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000685639" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000685641" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000685642" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000686109" "00003690" "90" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Glu135*)" "" "0000686127" "00003690" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000688736" "00003690" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Pro433Ser)" "" "0000688737" "00003690" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Gln)" "" "0000710269" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "" "0000710277" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "" "0000713309" "00003690" "90" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Trp253*)" "" "0000713528" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "" "0000718742" "00003690" "10" "2499" "0" "2499" "0" "c.2499G>A" "r.(?)" "p.(Pro833=)" "" "0000718743" "00003690" "50" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Glu695Lys)" "" "0000718744" "00003690" "50" "740" "0" "740" "0" "c.740T>A" "r.(?)" "p.(Val247Asp)" "" "0000730923" "00003690" "90" "2966" "0" "2966" "0" "c.2966dup" "r.(?)" "p.(Val990Cysfs*117)" "" "0000730924" "00003690" "90" "2966" "0" "2966" "0" "c.2966del" "r.(?)" "p.(Pro989Leufs*46)" "" "0000732576" "00003690" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Trp505*)" "" "0000732597" "00003690" "90" "3266" "0" "3266" "0" "c.3266dup" "r.(?)" "p.(Ser1090Ilefs*17)" "" "0000735885" "00003690" "70" "3099" "0" "3100" "0" "c.3099_3100insCAGG" "r.(?)" "p.(Val1034GlnfsTer74)" "" "0000735952" "00003690" "70" "3099" "0" "3099" "0" "c.3099T>C" "r.(?)" "p.(Pro1033=)" "" "0000736818" "00003690" "50" "3264" "0" "3266" "0" "c.3264_3266del" "r.(?)" "p.(Pro1089del)" "" "0000759917" "00003690" "90" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Trp650Ter)" "" "0000759918" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "" "0000759919" "00003690" "90" "1709" "0" "1728" "0" "c.1709_1728del" "r.(?)" "p.(Gly570Glufs*3)" "" "0000759920" "00003690" "90" "2227" "0" "2228" "0" "c.2227_2228del" "r.(?)" "p.(Leu744Glufs*7)" "" "0000759921" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "" "0000759953" "00003690" "90" "1709" "0" "1728" "0" "c.1709_1728del" "r.(?)" "p.(Gly570Glufs*3)" "" "0000759954" "00003690" "90" "1709" "0" "1728" "0" "c.1709_1728del" "r.(?)" "p.(Gly570Glufs*3)" "" "0000760600" "00003690" "90" "2315" "0" "2321" "0" "c.2315_2321delinsAAG" "r.(?)" "p.(Thr772LysfsTer24)" "" "0000764105" "00003690" "90" "3604" "0" "3604" "0" "c.3604C>T" "r.3604c>u" "p.(Arg1202*)" "" "0000764143" "00003690" "90" "3099" "0" "3100" "0" "c.3099_3100insCAGG" "r.3099_3100inscagg" "p.(Val1034Glnfs*74)" "1" "0000765646" "00003690" "70" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Ter)" "1" "0000765649" "00003690" "70" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Trp505Ter)" "1" "0000765661" "00003690" "90" "712" "0" "712" "0" "c.712A>T" "r.(?)" "p.(Lys238Ter)" "1" "0000765866" "00003690" "70" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097*)" "" "0000784234" "00003690" "70" "3704" "0" "3704" "0" "c.3704C>T" "r.(?)" "p.(Pro1235Leu)" "" "0000784247" "00003690" "70" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ser1241Phe)" "" "0000784264" "00003690" "70" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "" "0000784292" "00003690" "50" "2965" "0" "2965" "0" "c.2965C>G" "r.(?)" "p.(Pro989Ala)" "" "0000784301" "00003690" "70" "2176" "0" "2176" "0" "c.2176C>G" "r.(?)" "p.(Pro726Ala)" "" "0000784302" "00003690" "70" "3377" "0" "3377" "0" "c.3377C>T" "r.(?)" "p.(Ala1126Val)" "" "0000784304" "00003690" "70" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Glu136Gly)" "" "0000784370" "00003690" "70" "3527" "0" "3527" "0" "c.3527A>G" "r.(?)" "p.(Gln1176Arg)" "" "0000784388" "00003690" "70" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Lys257Ter)" "" "0000784508" "00003690" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Asp80Gly)" "" "0000784516" "00003690" "50" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(His829Tyr)" "" "0000784522" "00003690" "50" "3277" "0" "3277" "0" "c.3277A>G" "r.(?)" "p.(Met1093Val)" "" "0000784550" "00003690" "50" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Glu136Gly)" "" "0000785593" "00003690" "90" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Cys599Arg)" "" "0000787742" "00003690" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000788099" "00003690" "90" "2126" "0" "2126" "0" "c.2126del" "r.(?)" "p.(Gly709GlufsTer36)" "" "0000788100" "00003690" "90" "2988" "0" "2988" "0" "c.2988dup" "r.(?)" "p.(Thr997HisfsTer110)" "" "0000788345" "00003690" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "1" "0000788360" "00003690" "70" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Arg1250Cys)" "2" "0000788411" "00003690" "50" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "1" "0000788494" "00003690" "50" "2495" "0" "2495" "0" "c.2495C>T" "r.(?)" "p.(Pro832Leu)" "1" "0000788514" "00003690" "70" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "1" "0000790399" "00003690" "50" "3058" "0" "3059" "0" "c.3058_3059delinsAG" "r.(?)" "p.(Gln1020Arg)" "" "0000790446" "00003690" "50" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000790510" "00003690" "50" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "" "0000790560" "00003690" "50" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000790630" "00003690" "50" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" "" "0000790658" "00003690" "50" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "" "0000790663" "00003690" "50" "2875" "0" "2875" "0" "c.2875G>A" "r.(?)" "p.(Ala959Thr)" "" "0000790741" "00003690" "70" "1764" "0" "1764" "0" "c.1764del" "r.(?)" "p.(Glu589ArgfsTer156)" "" "0000791622" "00003690" "50" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "1" "0000793716" "00003690" "70" "2327" "0" "2327" "0" "c.2327dup" "r.(?)" "p.(Leu777Phefs*34)" "0" "0000793717" "00003690" "70" "2328" "0" "2344" "0" "c.2328_2344del" "r.(?)" "p.(Leu777Asnfs*28)" "0" "0000793718" "00003690" "70" "2327" "0" "2327" "0" "c.2327dup" "r.(?)" "p.(Leu777Phefs*34)" "0" "0000793719" "00003690" "70" "2328" "0" "2344" "0" "c.2328_2344del" "r.(?)" "p.(Leu777Asnfs*28)" "0" "0000794291" "00003690" "90" "898" "0" "898" "0" "c.898del" "r.(?)" "p.(Leu300Serfs*12)" "2" "0000794737" "00003690" "90" "1377" "0" "1377" "0" "c.1377del" "r.(?)" "p.(Phe459Leufs*39)" "" "0000794742" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "" "0000795064" "00003690" "90" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Glu135*)" "0" "0000795921" "00003690" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000795942" "00003690" "70" "2666" "0" "2666" "0" "c.2666T>C" "r.(?)" "p.(Leu889Pro)" "1" "0000795980" "00003690" "50" "1940" "0" "1940" "0" "c.1940C>A" "r.(?)" "p.(Ala647Asp)" "1" "0000795981" "00003690" "50" "3395" "0" "3395" "0" "c.3395A>C" "r.(?)" "p.(Glu1132Ala)" "1" "0000795982" "00003690" "50" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Val463Phe)" "1" "0000796025" "00003690" "90" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Lys257*)" "1" "0000796026" "00003690" "90" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Lys257*)" "1" "0000796167" "00003690" "70" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000796168" "00003690" "70" "2169" "0" "2170" "0" "c.2169_2170del" "r.(?)" "p.(Gly724Leufs*12)" "1" "0000796668" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "1" "0000796776" "00003690" "70" "1844" "0" "1844" "0" "c.1844T>A" "r.(?)" "p.(Val615Asp)" "1" "0000796798" "00003690" "70" "1844" "0" "1844" "0" "c.1844T>A" "r.(?)" "p.(Val615Asp)" "1" "0000796809" "00003690" "70" "1844" "0" "1844" "0" "c.1844T>A" "r.(?)" "p.(Val615Asp)" "1" "0000797547" "00003690" "70" "2985" "0" "2985" "0" "c.2985dup" "r.(?)" "p.(Pro996Serfs*111)" "" "0000797950" "00003690" "50" "3676" "0" "3676" "0" "c.3676G>A" "r.(?)" "p.(Glu1226Lys)" "" "0000797951" "00003690" "50" "3669" "-5" "3669" "-5" "c.3669-5G>A" "r.spl?" "p.(?)" "" "0000800572" "00003690" "50" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010Gln)" "" "0000800573" "00003690" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000811438" "00003690" "70" "2967" "0" "2967" "0" "c.2967del" "r.(?)" "p.(Val990Trpfs*45)" "" "0000811822" "00003690" "70" "3377" "0" "3377" "0" "c.3377C>T" "r.(?)" "p.(Ala1126Val)" "" "0000811857" "00003690" "70" "3315" "0" "3316" "0" "c.3315_3316del" "r.(?)" "p.(Glu1106Argfs*26)" "" "0000811939" "00003690" "70" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Ala775Thr)" "" "0000811940" "00003690" "70" "2121" "0" "2121" "0" "c.2121A>T" "r.(?)" "p.(Pro707=)" "" "0000812137" "00003690" "70" "1993" "0" "1993" "0" "c.1993dup" "r.(?)" "p.(Arg665Lysfs*15)" "1" "0000812330" "00003690" "70" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000814278" "00003690" "70" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613*)" "1" "0000815302" "00003690" "50" "1475" "0" "1475" "0" "c.1475A>C" "r.(?)" "p.(Glu492Ala)" "" "0000815563" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "" "0000815604" "00003690" "50" "3058" "0" "3058" "0" "c.3058C>A" "r.(?)" "p.(Gln1020Lys)" "" "0000817619" "00003690" "90" "1535" "0" "1535" "0" "c.1535C>A" "r.(?)" "p.(Ser512*)" "1" "0000819935" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000819936" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000819987" "00003690" "70" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "" "0000820094" "00003690" "70" "1804" "0" "1805" "0" "c.1804_1805del" "r.(?)" "p.(His603Argfs*76)" "" "0000820197" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000820198" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000820210" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000820374" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000820375" "00003690" "70" "478" "0" "479" "0" "c.478_479insA" "r.(?)" "p.(Cys160*)" "" "0000820392" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000820393" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000820404" "00003690" "70" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514Hisfs*27)" "" "0000820559" "00003690" "70" "2380" "0" "2380" "0" "c.2380dup" "r.(?)" "p.(Met794Asnfs*17)" "" "0000820813" "00003690" "70" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "" "0000820843" "00003690" "70" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "" "0000821171" "00003690" "90" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Trp253*)" "" "0000821172" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "" "0000822042" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000822043" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000822044" "00003690" "70" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919Thrfs*2)" "" "0000822491" "00003690" "70" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "1" "0000822492" "00003690" "70" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "1" "0000822944" "00003690" "70" "3668" "2" "3668" "2" "c.3668+2T>C" "r.spl" "p.(?)" "" "0000824695" "00003690" "50" "878" "0" "878" "0" "c.878T>C" "r.(?)" "p.(Leu293Pro)" "" "0000825724" "00003690" "70" "898" "0" "898" "0" "c.898delC" "r.?" "p.(Leu300Serfs*12)" "" "0000825864" "00003690" "70" "898" "0" "898" "0" "c.898delC" "r.?" "p.(Leu300Serfs*12)" "" "0000827192" "00003690" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Cys3Tyr)" "1" "0000829418" "00003690" "50" "-8388608" "0" "1691194" "0" "c.-32784054_*1687327dup" "r.0?" "p.0?" "" "0000829420" "00003690" "50" "0" "0" "0" "0" "c.{2}" "r.?" "p.?" "" "0000834073" "00003690" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn12Thrfs*11)" "" "0000845508" "00003690" "50" "2246" "0" "2246" "0" "c.2246A>C" "r.(?)" "p.(Asp749Ala)" "1" "0000845520" "00003690" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000845550" "00003690" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000849852" "00003690" "10" "2502" "0" "2502" "0" "c.2502T>C" "r.(?)" "p.(Pro834=)" "" "0000849853" "00003690" "50" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Gly35Arg)" "" "0000858493" "00003690" "30" "2703" "0" "2703" "0" "c.2703C>T" "r.(?)" "p.(Thr901=)" "" "0000858494" "00003690" "10" "2406" "0" "2406" "0" "c.2406A>G" "r.(?)" "p.(Ala802=)" "" "0000858495" "00003690" "50" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0000869972" "00003690" "70" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259Alafs*51)" "" "0000869974" "00003690" "70" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259Alafs*51)" "" "0000870302" "00003690" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Asn316Metfs*7)" "1" "0000870303" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "1" "0000870304" "00003690" "90" "2327" "0" "2327" "0" "c.2327dup" "r.(?)" "p.(Leu777Phefs*34)" "1" "0000870305" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000870306" "00003690" "70" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Asp372Asn)" "1" "0000870307" "00003690" "70" "1835" "0" "1835" "0" "c.1835T>C" "r.(?)" "p.(Leu612Pro)" "1" "0000870308" "00003690" "70" "1844" "0" "1844" "0" "c.1844T>A" "r.(?)" "p.(Val615Asp)" "1" "0000870309" "00003690" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "1" "0000870310" "00003690" "30" "773" "0" "773" "0" "c.773G>T" "r.(?)" "p.(Arg258Ile)" "1" "0000870311" "00003690" "30" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Ser312Asn)" "1" "0000870312" "00003690" "30" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "1" "0000870313" "00003690" "30" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Glu378Lys)" "1" "0000870314" "00003690" "30" "1545" "0" "1545" "0" "c.1545A>G" "r.(=)" "p.(=)" "1" "0000870315" "00003690" "30" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "1" "0000870316" "00003690" "30" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Cys688Tyr)" "1" "0000870317" "00003690" "30" "2502" "0" "2502" "0" "c.2502T>C" "r.(=)" "p.(=)" "1" "0000870318" "00003690" "30" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "1" "0000870319" "00003690" "30" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Pro954Ser)" "1" "0000870320" "00003690" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "1" "0000870321" "00003690" "30" "2875" "0" "2875" "0" "c.2875G>A" "r.(?)" "p.(Ala959Thr)" "1" "0000870322" "00003690" "30" "2889" "0" "2889" "0" "c.2889C>T" "r.(=)" "p.(=)" "1" "0000870323" "00003690" "30" "3058" "0" "3059" "0" "c.3058_3059delinsAG" "r.(?)" "p.(Gln1020Arg)" "1" "0000870324" "00003690" "30" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Ala1160Thr)" "1" "0000870325" "00003690" "30" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177Gln)" "1" "0000870326" "00003690" "30" "3291" "0" "3291" "0" "c.3291G>A" "r.(=)" "p.(=)" "1" "0000870327" "00003690" "30" "3447" "0" "3447" "0" "c.3447G>A" "r.(=)" "p.(=)" "1" "0000870328" "00003690" "30" "3522" "0" "3522" "0" "c.3522C>T" "r.(=)" "p.(=)" "1" "0000870329" "00003690" "30" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Gly1247Ser)" "2" "0000870330" "00003690" "30" "3673" "0" "3675" "0" "c.3673_3675dup" "r.(?)" "p.(Ser1225dup)" "2" "0000870331" "00003690" "30" "3840" "0" "3840" "0" "c.3840G>A" "r.(=)" "p.(=)" "2" "0000870332" "00003690" "30" "3789" "0" "3789" "0" "c.3789G>A" "r.(=)" "p.(=)" "2" "0000870333" "00003690" "10" "37" "0" "37" "0" "c.37A>T" "r.(?)" "p.(Ser13Cys)" "1" "0000870334" "00003690" "10" "60" "0" "60" "0" "c.60G>A" "r.(=)" "p.(=)" "1" "0000870335" "00003690" "10" "258" "0" "258" "0" "c.258G>A" "r.(=)" "p.(=)" "1" "0000870336" "00003690" "10" "366" "0" "366" "0" "c.366T>C" "r.(=)" "p.(=)" "1" "0000870337" "00003690" "10" "740" "0" "740" "0" "c.740T>C" "r.(?)" "p.(Val247Ala)" "1" "0000870338" "00003690" "10" "755" "0" "755" "0" "c.755C>A" "r.(?)" "p.(Ala252Asp)" "1" "0000870339" "00003690" "10" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Lys421Arg)" "1" "0000870340" "00003690" "10" "1452" "0" "1452" "0" "c.1452C>T" "r.(=)" "p.(=)" "1" "0000870341" "00003690" "10" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" 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"p.(Ser1014Leufs*93)" "1" "0000870363" "00003690" "70" "1804" "0" "1805" "0" "c.1804_1805del" "r.(?)" "p.(His603Argfs*76)" "1" "0000881433" "00003690" "90" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Valfs*2)" "" "0000885123" "00003690" "30" "2100" "0" "2100" "0" "c.2100G>A" "r.(?)" "p.(Gly700=)" "" "0000915858" "00003690" "90" "1804" "0" "1805" "0" "c.1804_1805del" "r.(?)" "p.(His603Argfs*76)" "1" "0000915859" "00003690" "90" "2380" "0" "2380" "0" "c.2380dup" "r.(?)" "p.(Met794Asnfs*17)" "1" "0000915860" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "1" "0000915976" "00003690" "90" "2175" "0" "2175" "0" "c.2175T>A" "r.(?)" "p.(Cys725*)" "1" "0000915977" "00003690" "90" "2789" "0" "2795" "0" "c.2789_2795dup" "r.(?)" "p.(Gln932Hisfs*177)" "1" "0000916084" "00003690" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984*)" "1" "0000916100" "00003690" "70" "2458" "0" "2458" "0" "c.2458dup" "r.(?)" 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"p.(Arg984*)" "1" "0000931890" "00003690" "70" "1612" "0" "1612" "0" "c.1612C>A" "r.(?)" "p.(Gln538Lys)" "" "0000958072" "00003690" "90" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Pro514HisfsTer27)" "" "0000958150" "00003690" "90" "2704" "0" "2704" "0" "c.2704A>T" "r.(?)" "p.(Lys902Ter)" "" "0000958172" "00003690" "90" "2966" "0" "2966" "0" "c.2966del" "r.(?)" "p.(Pro989LeufsTer46)" "" "0000958173" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "" "0000958178" "00003690" "90" "2704" "0" "2704" "0" "c.2704A>T" "r.(?)" "p.(Lys902Ter)" "" "0000958498" "00003690" "90" "776" "0" "777" "0" "c.776_777del" "r.(?)" "p.(Glu259AlafsTer51)" "" "0000958515" "00003690" "90" "2966" "0" "2966" "0" "c.2966dup" "r.(?)" "p.(Val990CysfsTer117)" "" "0000958516" "00003690" "90" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Gln1097Ter)" "" "0000958523" "00003690" "90" "2756" "0" "2768" "0" "c.2756_2768del" "r.(?)" "p.(Lys919ThrfsTer2)" "" "0000959040" "00003690" "50" "995" "0" "995" "0" "c.995C>A" "r.(?)" "p.(Ala332Glu)" "" "0000975216" "00003690" "50" "3669" "-6" "3669" "-5" "c.3669-6_3669-5insA" "r.spl?" "p.?" "" "0000975217" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "" "0000975218" "00003690" "30" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000975219" "00003690" "50" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0000986477" "00003690" "90" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Trp650Ter)" "1" "0000986478" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "1" "0000986479" "00003690" "70" "3461" "0" "3461" "0" "c.3461del" "r.(?)" "p.(Gly1154AlafsTer18)" "1" "0000986480" "00003690" "90" "920" "0" "920" "0" "c.920T>A" "r.(?)" "p.(Leu307Ter)" "1" "0000986481" "00003690" "90" "3604" "0" "3604" "0" "c.3604C>T" "r.(?)" "p.(Arg1202Ter)" "1" "0000986482" "00003690" "90" "2334" "0" "2334" "0" "c.2334T>G" "r.(?)" "p.(Tyr778Ter)" "1" "0000986483" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "1" "0000986484" "00003690" "90" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Thr662AsnfsTer18)" "1" "0000986485" "00003690" "90" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Thr662AsnfsTer18)" "1" "0000986486" "00003690" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" "1" "0000986487" "00003690" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" "1" "0000986488" "00003690" "70" "418" "0" "418" "0" "c.418del" "r.(?)" "p.(Gln140LysfsTer42)" "1" "0000986941" "00003690" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001Ter)" "1" "0000986942" "00003690" "70" "1827" "0" "1827" "0" "c.1827del" "r.(?)" "p.(Gln610ArgfsTer135)" "1" "0000986943" "00003690" "70" "2334" "0" "2334" "0" "c.2334T>G" "r.(?)" 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"p.(Ser584Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 322 "{{screeningid}}" "{{variantid}}" "0000033193" "0000059560" "0000033214" "0000059572" "0000033229" "0000059570" "0000033229" "0000059571" "0000033229" "0000059573" "0000033239" "0000059531" "0000033239" "0000059532" "0000033240" "0000059566" "0000033240" "0000059567" "0000033241" "0000059534" "0000033241" "0000059535" "0000033242" "0000059543" "0000033242" "0000059544" "0000033243" "0000059552" "0000033243" "0000059553" "0000033244" "0000059561" "0000033244" "0000059562" "0000033245" "0000059563" "0000033246" "0000059568" "0000033247" "0000059545" "0000033247" "0000059546" "0000033248" "0000059547" "0000033248" "0000059548" "0000033249" "0000059549" "0000033249" "0000059550" "0000033250" "0000059551" "0000033251" "0000059536" "0000033251" "0000059537" "0000033252" "0000059538" "0000033252" "0000059539" "0000033253" "0000059540" "0000033253" "0000059541" "0000033254" "0000059542" 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