### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNV2) # 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}}" "KCNV2" "potassium channel, subfamily V, member 2" "9" "p24.2" "unknown" "NG_012181.1" "UD_132085372016" "" "https://www.LOVD.nl/KCNV2" "" "1" "19698" "169522" "607604" "1" "1" "1" "1" "This database is one of the \"\"Eye disease\"\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KCNV2_codingDNA.html" "1" "" "This database is one of the \"\"Eye disease\"\" gene variant databases.\"\"" "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-09-04 13:46:33" "00000" "2025-07-08 13:22:38" ## 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}}" "00010428" "KCNV2" "potassium channel, subfamily V, member 2" "001" "NM_133497.3" "" "NP_598004.1" "" "" "" "-214" "1948" "1638" "2717526" "2730037" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02932" "RCD3B" "dystrophy, retinal cone, type 3B (RCD-3B)" "AR" "610356" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KCNV2" "02932" ## Individuals ## Do not remove or alter this header ## ## Count = 328 "{{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}}" "00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00143915" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00155484" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00155485" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Beduin" "" "00155486" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish" "" "00155487" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00155488" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" "" "00155489" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Jewish-Oriental" "" "00294838" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294839" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294840" "" "" "" "63" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305247" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308612" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00308724" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00309203" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309204" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309205" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309206" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309207" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309208" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309209" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309210" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309840" "" "" "" "1" "" "00006" "{PMID:Sun 2018:30058936}" "" "M" "" "China" "" "0" "" "" "" "patient" "00325471" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3470" "00328104" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005209" "00328297" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000170" "00328459" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15020633" "00333989" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "462" "00333990" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "463" "00334457" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-135" "00359238" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12013892" "00362147" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1250" "00362167" "" "" "" "1" "" "00000" "{PMID:Oishi 2016:26957898}" "4-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "K6496" "00363596" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01036" "00363613" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0420" "00363636" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1759" "00363669" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2157" "00363729" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG0262" "00363730" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG0401" "00372511" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "134" "00374961" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W72-1" "00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015" "00375434" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#029" "00377805" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "yes" "Netherlands" "" "0" "" "" "Moroccan" "" "00377990" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "novel" "" "no" "" "" "0" "" "" "" "" "00377991" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "novel" "" "no" "" "" "0" "" "" "" "" "00377993" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "novel" "" "no" "" "" "0" "" "" "" "" "00377994" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "novel" "" "no" "" "" "0" "" "" "" "" "00377995" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00377996" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00377997" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00377998" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00377999" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378000" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378001" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378002" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378003" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378004" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00380289" "" "" "" "8" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380290" "" "" "" "2" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380291" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380292" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380293" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380294" "" "" "" "2" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380295" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00381576" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381577" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381578" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381579" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381580" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381581" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381582" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381583" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381584" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381585" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381586" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381587" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381588" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381589" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381590" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381591" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00381592" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "F" "" "" "" "0" "" "" "" "" "00381593" "" "" "" "1" "" "00000" "{PMID:robson-2010:19952985}" "" "M" "" "" "" "0" "" "" "" "" "00382558" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "420" "00382559" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "421" "00382803" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" "" "00383435" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00383436" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383437" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383438" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383439" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00383440" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383441" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383442" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00384142" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2621" "00384430" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14489" "00385113" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #3" "M" "" "Brazil" "" "0" "" "" "" "III:10" "00386171" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-126, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-283" "00386187" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-140, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-297" "00386193" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-147, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-309" "00389677" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 430, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "961" "00389739" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 539, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1023" "00389741" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 546, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1025" "00389750" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 599, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1034" "00390293" "" "" "" "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" "" "" "" "G005209" "00390828" "" "" "" "1" "" "00000" "{PMID:Agange-2017:27579568}" "" "M" "" "" "" "0" "" "" "chinese" "" "00390857" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390928" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00391173" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "135" "00391367" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "35" "00391558" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Middle Eastern" "55" "00391559" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Middle Eastern" "56" "00393690" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00395763" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F077" "00396459" "" "" "" "1" "" "00006" "{PMID:Ellingford 2017:28378820}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15005719" "00407358" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-83" "00415169" "" "" "" "1" "" "00000" "{PMID:Ritter 2013:23143909}" "Turkish family, proband\'s son" "M" "" "Austria" "" "0" "" "" "Turkish" "Patient No 2" "00415170" "" "" "" "1" "" "00000" "{PMID:Ritter 2013:23143909}" "Turkish family, proband" "F" "" "Austria" "" "0" "" "" "Turkish" "Patient No 1" "00415819" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "M" "" "" "" "0" "" "" "Middle Eastern" "1_1" "00415820" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "M" "" "" "" "0" "" "" "Middle Eastern" "1_2" "00415821" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "1_3" "00415822" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "1_4" "00415823" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "1_5" "00415824" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "1_6" "00415825" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "South Asian" "2_1" "00415826" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "South Asian" "2_2" "00415827" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "South Asian" "3" "00415828" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "4" "00415829" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "South Asian" "5" "00415830" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "South Asian" "6" "00415831" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "7" "00415832" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "8" "00415833" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "" "" "0" "" "" "Middle Eastern" "9" "00415834" "" "" "" "1" "" "00000" "{PMID:Wu 2006:16909397}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "10" "00415878" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14588_GD" "00415879" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "F" "" "" "" "0" "" "" "" "14589_CH" "00415880" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14590_KH" "00415881" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14591_PHJ" "00415882" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14592_IM" "00415883" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "sibling of 15268_CN" "M" "" "" "" "0" "" "" "" "14593_NN" "00415884" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "sibling of 14593_NN" "F" "" "" "" "0" "" "" "" "15268_CN" "00415885" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "described also in {PMID:Wissinger 2011:21882291}, deletion boundaries" "M" "" "" "" "0" "" "" "" "14594_PWS" "00415886" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "F" "" "" "" "0" "" "" "" "14595_NMT" "00415887" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14767_SKH" "00415888" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "14768_CA" "00415889" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "F" "" "" "" "0" "" "" "" "14769_EVT" "00415890" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "" "M" "" "" "" "0" "" "" "" "11323_SR" "00415891" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "sibling of 16386_IHN and 16450_IHM" "M" "" "" "" "0" "" "" "" "12357_IRN" "00415892" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "sibling of 12357_IRN and 16450_IHM" "M" "" "" "" "0" "" "" "" "16386_IHN" "00415893" "" "" "" "1" "" "00000" "{PMID:Wissinger 2008:18235024}" "sibling of 12357_IRN and 16386_IHN" "M" "" "" "" "0" "" "" "" "16450_IHM" "00415894" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "" "F" "" "" "" "0" "" "" "European" "231-001" "00415895" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "sibling also affected" "F" "" "" "" "0" "" "" "European" "273-001" "00415896" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "" "F" "" "" "" "0" "" "" "European" "273-005" "00415897" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "sibling also affected" "F" "" "" "" "0" "" "" "European" "273-007" "00415898" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "sibling also affected" "M" "" "" "" "0" "" "" "Chinese" "273-008" "00415899" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "sibling also affected" "F" "" "" "" "0" "" "" "European" "273-009" "00415900" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "" "F" "" "" "" "0" "" "" "European" "273-010" "00415901" "" "" "" "1" "" "00000" "{PMID:Thiagalingam 2007:17896311}" "" "M" "" "" "" "0" "" "" "European" "273-012" "00415902" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 1" "F" "" "" "" "0" "" "" "" "III-2" "00415903" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 1" "F" "" "" "" "0" "" "" "" "III-3" "00415904" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 2" "F" "yes" "" "" "0" "" "" "" "III-6" "00415905" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 2" "M" "yes" "" "" "0" "" "" "" "III-7" "00415906" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 2" "M" "yes" "" "" "0" "" "" "" "III-8" "00415907" "" "" "" "1" "" "00000" "{PMID:BenSalah 2008:18400204}" "Family 3" "F" "yes" "" "" "0" "" "" "" "II-3" "00415909" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2011:21558291}" "Previously unreported case; family members partially detailed in Wu et al and Robson et al" "?" "" "" "" "0" "" "" "" "2" "00415910" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2011:21558291}" "sibling of 4; previously unreported cases" "?" "" "" "" "0" "" "" "" "3" "00415911" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2011:21558291}" "sibling of 3; previously unreported cases" "?" "" "" "" "0" "" "" "" "4" "00415912" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2011:21558291}" "Previously unreported case" "?" "" "" "" "0" "" "" "" "5" "00415913" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "RCD307_HPM" "00415914" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "ZD164_AS" "00415915" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "ZD220_KW" "00415916" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "RCD272_RO" "00415917" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "ZD283_ET" "00415918" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO417_BS" "00415919" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "CHRO450_LK" "00415920" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO8_VH" "00415921" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "CHRO8_MAH" "00415922" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO158_W07-1637" "00415923" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO246_ACH13-01" "00415924" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO271_AA" "00415925" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO390_GL" "00415926" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO390_AT" "00415927" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "RCD382_MB" "00415928" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "RCD382_AL" "00415929" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "RCD382_IF" "00415930" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "RCD382_HU" "00415931" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "RCD425_WM" "00415932" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "M" "" "" "" "0" "" "" "" "ZD389_PGS" "00415933" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "ZD389_AS" "00415937" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "sister of patient 2" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "1" "00415938" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "sister of patient 1" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "2" "00415939" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "3" "00415940" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "sister of patient 5" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "4" "00415941" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "sister of patient 4" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "5" "00415942" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "6" "00415943" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "7" "00415944" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "8" "00415945" "" "" "" "1" "" "00000" "{PMID:Khan 2012:21900228}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "9" "00415946" "" "" "" "1" "" "00000" "{PMID:Zobor 2012:23077521}" "" "M" "" "Germany" "" "0" "" "" "German" "BD27.I" "00415947" "" "" "" "1" "" "00000" "{PMID:Zobor 2012:23077521}" "" "F" "" "Germany" "" "0" "" "" "German" "BD27.II" "00415948" "" "" "" "1" "" "00000" "{PMID:Zobor 2012:23077521}" "" "M" "" "Germany" "" "0" "" "" "German" "BCM5" "00415951" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "" "M" "yes" "" "" "0" "" "" "Iranian" "1" "00415952" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "" "M" "" "" "" "0" "" "" "white" "2" "00415953" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "brother of 4" "M" "yes" "" "" "0" "" "" "Palestinian" "3" "00415954" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "brother of 3" "M" "yes" "" "" "0" "" "" "Palestinian" "4" "00415955" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "" "M" "" "" "" "0" "" "" "Chinese" "5" "00415956" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "" "M" "" "" "" "0" "" "" "white" "6" "00415957" "" "" "" "1" "" "00000" "{PMID:Vincent 2013:23221069}" "" "F" "" "" "" "0" "" "" "white" "7" "00415958" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0726, individual IV:2, proband" "M" "" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL0726_IV:2" "00415959" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0673, individual II:3, proband" "M" "" "Israel" "" "0" "" "" "Israeli/Turkish Jewish" "MOL0673_II:3" "00415960" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0089, individual IV:1, proband" "M" "" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL0089_IV:1" "00415961" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0736, individual II:2, proband" "F" "" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL0736_II:2" "00415962" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0736, individual II:3, proband\'s younger sister" "" "" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL0736_II:3" "00415963" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL1153, individual IV:1, proband" "F" "" "Israel" "" "0" "" "" "Iranian Jewish" "MOL1153_IV:1" "00415964" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0673, individual II:5, proband\'s younger sister" "F" "" "Israel" "" "0" "" "" "Israeli/Turkish Jewish" "MOL0673_II:5" "00415965" "" "" "" "1" "" "00000" "{PMID:Zelinger 2013:23725738}" "family MOL0726, individual IV:5, proband\'s sister" "F" "" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL0726_IV:5" "00415981" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:23885164}" "family 1, individual 1" "F" "" "Japan" "" "0" "" "" "Japanese" "1_1" "00415982" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:23885164}" "family 1, individual 2" "M" "" "Japan" "" "0" "" "" "Japanese" "1_2" "00415983" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:23885164}" "family 2, individual 3" "F" "" "Japan" "" "0" "" "" "Japanese" "2_3" "00415984" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:23885164}" "family 3, individual 4" "F" "" "Japan" "" "0" "" "" "Japanese" "3_4" "00415985" "" "" "" "1" "" "00000" "{PMID:Lenis 2013:24029832}" "" "M" "" "United States" "" "0" "" "" "" "?" "00415998" "" "" "" "1" "" "00000" "{PMID:Grigg 2013:24210337}" "parents are first cousins of Lebanese ancestry" "M" "yes" "Australia" "" "0" "" "" "Lebanese" "?" "00416003" "" "" "" "1" "" "00000" "{PMID:Stockman 2014:24370833}" "" "M" "" "" "" "0" "" "" "" "SR1" "00416004" "" "" "" "1" "" "00000" "{PMID:Stockman 2014:24370833}" "" "M" "" "" "" "0" "" "" "" "SR2" "00416005" "" "" "" "1" "" "00000" "{PMID:Stockman 2014:24370833}" "" "F" "" "" "" "0" "" "" "" "SR3" "00416006" "" "" "" "1" "" "00000" "{PMID:Stockman 2014:24370833}" "" "F" "" "" "" "0" "" "" "" "SR4" "00416007" "" "" "" "1" "" "00000" "{PMID:Stockman 2014:24370833}" "" "F" "" "" "" "0" "" "" "" "SR5" "00416008" "" "" "" "1" "" "00000" "{PMID:Xu 2017:29210963}" "" "M" "" "" "" "0" "" "" "Iranian" "?" "00416009" "" "" "" "1" "" "00000" "{PMID:Kutsuma 2019:30877594}" "" "F" "" "" "" "0" "" "" "" "?" "00420440" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F077" "00421987" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "one affected sibling" "M" "no" "Saudi Arabia" "" "0" "" "" "" "1" "00421988" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "2" "00421989" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "3" "00421990" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "4" "00421991" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "5" "00421992" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "6" "00421993" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "no" "Saudi Arabia" "" "0" "" "" "" "7" "00421994" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "8" "00421995" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "9" "00421996" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10" "00421997" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11" "00421998" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12" "00421999" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "13" "00422000" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "14" "00422001" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2020:31960170}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "15" "00422222" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 1; pseudodominant inheritance due to multiple consanguineous marriages" "M" "yes" "" "" "0" "" "" "Egyptian" "1_IV:1" "00422223" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 1; pseudodominant inheritance due to multiple consanguineous marriages" "M" "yes" "" "" "0" "" "" "Egyptian" "1_V:1" "00422224" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 1; pseudodominant inheritance due to multiple consanguineous marriages" "F" "yes" "" "" "0" "" "" "Egyptian" "1_V:3" "00422225" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 1; pseudodominant inheritance due to multiple consanguineous marriages" "F" "yes" "" "" "0" "" "" "Northern Iraqi" "1_V:4" "00422226" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 2; pseudodominant inheritance due to multiple consanguineous marriages" "F" "yes" "" "" "0" "" "" "Northern Iraqi" "2_IV:7" "00422227" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 2; pseudodominant inheritance due to multiple consanguineous marriages" "M" "yes" "" "" "0" "" "" "Northern Iraqi" "2_IV:4" "00422228" "" "" "" "1" "" "00000" "{PMID:Kiray 2020:32154435}" "Family 2; pseudodominant inheritance due to multiple consanguineous marriages" "F" "yes" "" "" "0" "" "" "Northern Iraqi" "2_III:3" "00422229" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20749, individual MEH003" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20749_MEH003" "00422230" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC21888, individual MEH005" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21888_MEH005" "00422231" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC19701, individual MEH006" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC19701_MEH006" "00422232" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC18957, individual MEH007" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC18957_MEH007" "00422233" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC21105, individual MEH010" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21105_MEH010" "00422234" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC21109, individual MEH016" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21109_MEH016" "00422235" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20527, individual MEH017" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20527_MEH017" "00422236" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20307, individual MEH018" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20307_MEH018" "00422237" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20749, individual MEH020" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20749_MEH020" "00422238" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC26096, individual MEH023" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC26096_MEH023" "00422239" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MEH-PP25, individual MEH025" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-PP25_MEH025" "00422240" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC25683, individual MEH026" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC25683_MEH026" "00422241" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC26111, individual MEH027" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC26111_MEH027" "00422242" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC26620, individual MEH028" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC26620_MEH028" "00422243" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC16701, individual MEH030" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC16701_MEH030" "00422244" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC26268, individual MEH033" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC26268_MEH033" "00422245" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC26805, individual MEH034" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC26805_MEH034" "00422246" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC22870, individual MEH035" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC22870_MEH035" "00422247" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC25376, individual MEH036" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC25376_MEH036" "00422248" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MEH-PP37, individual MEH037" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-PP37_MEH037" "00422249" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC25878, individual MEH044" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC25878_MEH044" "00422250" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC14604, individual MEH045" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC14604_MEH045" "00422251" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20796, individual MEH046" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20796_MEH046" "00422252" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC20796, individual MEH047" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20796_MEH047" "00422253" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family GC19863, individual MEH048" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC19863_MEH048" "00422254" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ZD 599, individual ZD599-29894" "F" "" "Germany" "" "0" "" "" "" "ZD 599_ZD599-29894" "00422255" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ZD 430, individual ZD430-21549" "M" "" "Germany" "" "0" "" "" "" "ZD 430_ZD430-21549" "00422256" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ZD 546, individual ZD546-25834" "M" "" "Germany" "" "0" "" "" "" "ZD 546_ZD546-25834" "00422257" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ZD 539, individual ZD539-25438" "F" "" "Germany" "" "0" "" "" "" "ZD 539_ZD539-25438" "00422258" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family 1389678, individual UMCA1" "F" "" "Netherlands" "" "0" "" "" "" "1389678_UMCA1" "00422259" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family 6315911, individual UMCA2" "M" "" "Netherlands" "" "0" "" "" "" "6315911_UMCA2" "00422260" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family LUMC1, individual LUMC001" "M" "" "Netherlands" "" "0" "" "" "" "LUMC1_LUMC001" "00422261" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family LUMC1, individual LUMC002" "F" "" "Netherlands" "" "0" "" "" "" "LUMC1_LUMC002" "00422262" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ERA01, individual AAHJT01" "F" "" "Netherlands" "" "0" "" "" "" "ERA01_AAHJT01" "00422263" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family ERA02, individual AAHJT02" "M" "" "Netherlands" "" "0" "" "" "" "ERA02_AAHJT02" "00422264" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family FJD01, individual FJD01" "M" "" "Spain" "" "0" "" "" "" "FJD01_FJD01" "00422265" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family FJD02, individual FJD02-1" "M" "" "Spain" "" "0" "" "" "" "FJD02_FJD02-1" "00422266" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family FJD02, individual FJD02-2" "M" "" "Spain" "" "0" "" "" "" "FJD02_FJD02-2" "00422267" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MOL1254, individual MOL1254-1" "M" "" "Israel" "" "0" "" "" "" "MOL1254_MOL1254-1" "00422268" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MOL1254, individual MOL1254-2" "M" "" "Israel" "" "0" "" "" "" "MOL1254_MOL1254-2" "00422269" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family A1004, individual A1004" "F" "" "Japan" "" "0" "" "" "" "A1004_A1004" "00422270" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family A1006, individual A1006" "F" "" "Japan" "" "0" "" "" "" "A1006_A1006" "00422271" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family CA-07, individual HSC 08" "M" "" "Canada" "" "0" "" "" "" "CA-07_HSC 08" "00422272" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family CA-08, individual HSC 09" "M" "" "Canada" "" "0" "" "" "" "CA-08_HSC 09" "00422273" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MEE05, individual MEE05" "M" "" "United States" "" "0" "" "" "" "MEE05_MEE05" "00422274" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MEE06, individual MEE06" "M" "" "United States" "" "0" "" "" "" "MEE06_MEE06" "00422275" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family MEE07, individual MEE07" "M" "" "United States" "" "0" "" "" "" "MEE07_MEE07" "00422276" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family 4328, individual CEI-03" "F" "" "United States" "" "0" "" "" "" "4328_CEI-03" "00422277" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:33309813}" "family CEI-P1, individual CEI-05" "F" "" "United States" "" "0" "" "" "" "CEI-P1_CEI-05" "00422278" "" "" "" "1" "" "00000" "{PMID:Lie 2021:33372566}" "" "" "" "China" "" "0" "" "" "Han Chinese" "?" 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individual 25" "M" "" "" "" "0" "" "" "" "22_25" "00447051" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CD-395" "00447060" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-628" "00447197" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-262" "00447522" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-595" "00447527" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CD-631-1" "00447528" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CD-631-2" "00450869" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066704" "00450870" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066746" "00450871" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066830" "00450872" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066842" "00450873" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067121" "00450874" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071497" "00450875" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073551" "00450876" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073557" "00450877" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "074646" "00450878" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "074758" "00451037" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066657" "00451216" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072108" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 328 "{{individualid}}" "{{diseaseid}}" "00050559" "00198" "00143915" "04214" "00155484" "02932" "00155485" "02932" "00155486" "02932" "00155487" "02932" "00155488" "02932" "00155489" "02932" "00294838" "00198" "00294839" "00198" 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"04214" "00422250" "04214" "00422251" "04214" "00422252" "04214" "00422253" "04214" "00422254" "04214" "00422255" "04214" "00422256" "04214" "00422257" "04214" "00422258" "04214" "00422259" "04214" "00422260" "04214" "00422261" "04214" "00422262" "04214" "00422263" "04214" "00422264" "04214" "00422265" "04214" "00422266" "04214" "00422267" "04214" "00422268" "04214" "00422269" "04214" "00422270" "04214" "00422271" "04214" "00422272" "04214" "00422273" "04214" "00422274" "04214" "00422275" "04214" "00422276" "04214" "00422277" "04214" "00422278" "04214" "00422279" "04214" "00422280" "04214" "00422281" "04214" "00422282" "04214" "00422283" "04214" "00426910" "04214" "00426913" "04214" "00426916" "04214" "00447051" "00198" "00447060" "00198" "00447197" "00198" "00447522" "00198" "00447527" "00198" "00447528" "00198" "00450869" "04249" "00450870" "04249" "00450871" "04249" "00450872" "04249" "00450873" "04249" "00450874" "04249" "00450875" "04249" "00450876" "04249" "00450877" "04249" "00450878" "04249" "00451037" "04249" "00451216" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02932, 04214, 04249 ## Count = 321 "{{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}}" "0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000116693" "04214" "00143915" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127984" "02932" "00155484" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000127985" "02932" "00155485" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000127986" "02932" "00155486" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000127987" "02932" "00155487" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000127988" "02932" "00155488" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000127989" "02932" "00155489" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234040" "04214" "00308612" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234523" "04214" "00309203" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234524" "04214" "00309204" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234525" "04214" "00309205" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234526" "04214" "00309206" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234527" "04214" "00309207" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234528" "04214" "00309208" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234529" "04214" "00309209" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000234530" "04214" "00309210" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CDSRR" "" "0000235156" "04214" "00309840" "00006" "Familial, autosomal recessive" "" "see paper; ..., nystagmus, strabismus, Leber congenital amaurosis, macular pseudocoloboma" "" "" "" "" "" "" "" "" "7y" "nystagmus, strabismus" "" "0000243958" "04214" "00325471" "00006" "Familial, autosomal recessive" "" "syndromic retinal dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246331" "04214" "00328104" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246524" "04214" "00328297" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246685" "04214" "00328459" "00000" "Familial, autosomal recessive" "4y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252174" "04214" "00333989" "00000" "Familial, autosomal recessive" "21y" "clinical category IA2d" "" "" "" "" "" "" "" "" "" "achromatopsia (incomplete)" "" "0000252175" "04214" "00333990" "00000" "Familial, autosomal recessive" "42y" "clinical category IA2d" "" "" "" "" "" "" "" "" "" "congenital stationary cone dysfunction" "" "0000252546" "04214" "00334457" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone/cone-rod dystrophy" "" "0000254535" "04214" "00359238" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000257561" "04214" "00362147" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257581" "04214" "00362167" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000258946" "04214" "00363596" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258963" "04214" "00363613" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258986" "04214" "00363636" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000259019" "04214" "00363669" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259079" "04214" "00363729" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000259080" "04214" "00363730" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" "" "0000267826" "04214" "00372511" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000270171" "04214" "00374961" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity fingers count/fingers count" "20y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270648" "04214" "00375434" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272951" "04214" "00377805" "00000" "Isolated (sporadic)" "10y" "cone dystrophy with supernormal rod responses (RCD3)" "11y" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000273136" "04214" "00377990" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273137" "04214" "00377991" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273139" "04214" "00377993" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273140" "04214" "00377994" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273141" "04214" "00377995" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273142" "04214" "00377996" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273143" "04214" "00377997" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273144" "04214" "00377998" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273145" "04214" "00377999" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273146" "04214" "00378000" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273147" "04214" "00378001" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273148" "04214" "00378002" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273149" "04214" "00378003" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273150" "04214" "00378004" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000274140" "04214" "00380289" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274141" "04214" "00380290" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274142" "04214" "00380291" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274143" "04214" "00380292" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274144" "04214" "00380293" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274145" "04214" "00380294" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274146" "04214" "00380295" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275418" "04214" "00381576" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275419" "04214" "00381577" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275420" "04214" "00381578" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275421" "04214" "00381579" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275422" "04214" "00381580" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275423" "04214" "00381581" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275424" "04214" "00381582" "00000" "Unknown" "" "" "17y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275425" "04214" "00381583" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275426" "04214" "00381584" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275427" "04214" "00381585" "00000" "Unknown" "" "" "24y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275428" "04214" "00381586" "00000" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275429" "04214" "00381587" "00000" "Unknown" "" "" "27y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275430" "04214" "00381588" "00000" "Unknown" "" "" "27y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275431" "04214" "00381589" "00000" "Unknown" "" "" "26y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275432" "04214" "00381590" "00000" "Unknown" "" "" "36y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275433" "04214" "00381591" "00000" "Unknown" "" "" "36y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275434" "04214" "00381592" "00000" "Unknown" "" "" "47y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000275435" "04214" "00381593" "00000" "Unknown" "" "" "59y" "" "" "" "" "" "" "" "" "cone dystrophy and supernormal rod electroretinogram (ERG)" "" "0000276407" "04214" "00382558" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276408" "04214" "00382559" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" "0000276659" "04214" "00382803" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277220" "04214" "00383435" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277221" "04214" "00383436" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277222" "04214" "00383437" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277223" "04214" "00383438" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277224" "04214" "00383439" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277225" "04214" "00383440" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277226" "04214" "00383441" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277227" "04214" "00383442" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "KCNV2 phenotype" "" "0000277927" "04214" "00384142" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000278215" "04214" "00384430" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy+myopia" "" "0000278895" "04214" "00385113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" "" "0000279974" "04214" "00386171" "00000" "Familial, autosomal recessive" "25y" "" "" "20y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000279990" "04214" "00386187" "00000" "Familial, autosomal dominant" "61y" "" "" "32y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000279996" "04214" "00386193" "00000" "Familial, autosomal dominant" "18y" "" "" "16y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000283218" "04214" "00389677" "00000" "Familial, autosomal recessive" "30y" "age at genetic diagnosis mentioned" "" "23y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283280" "04214" "00389739" "00000" "Familial, autosomal recessive" "76y" "age at genetic diagnosis mentioned" "" "71y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283282" "04214" "00389741" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283291" "04214" "00389750" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "17y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283831" "04214" "00390293" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284316" "04214" "00390828" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Occult macular dystrophy" "" "0000284345" "04214" "00390857" "00000" "Familial, autosomal recessive" "06y-10y" "" "" "" "" "" "" "" "" "" "" "cone dystrophy (COD)" "" "0000284416" "04214" "00390928" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284615" "04214" "00391173" "00000" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284807" "04214" "00391367" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinal cone dystrophy 3B (610356)" "Retinal cone dystrophy 3B (610356)" "" "0000284894" "04214" "00391558" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "0000284895" "04214" "00391559" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "0000286896" "04214" "00393690" "00000" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000288925" "04214" "00395763" "00000" "Unknown" "61y2m" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289620" "04214" "00396459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000299712" "04214" "00407358" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000306969" "04214" "00415169" "00000" "Familial, autosomal recessive" "7y" "best corrected visual acuity right, left eye: 20/400, 20/200; refractive error right, left eye: +16.75 D, +14.0 D in the left eye; progressive nyctalopia and decreasing visual acuity since infancy; anterior segment: normal; intraocular pressure right, left eye: 14, 11 mmHg; biometry: reduced axial length right/left eye: 15.5 /16 mm; funduscopy: blunted foveal reflexes, cystic lesions, retinal pigment epithelium mottling, and atrophy at the central macula; fundus autofluorescence: small hyperfluorescent dots distributed over the entire macula with the highest density in the inferior perifoval region of both eyes; spectral domain optical coherence tomography: increased foveal thickness, right/left eye: 538 / 545 μm; foveal B scans: areas of low reflectivity due to multiple cysts located predominately in the ganglion cell layer and the inner and outer nuclear layers; ultrasonography: highly reflective optic nerve head drusen in both eyes; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): nt detectable, bright flash dark adapted electroretinograms (DA 10.0): marked a wave reduction, in keeping with loss of rod photoreceptor function; photopic flicker and single flash electroretinograms: delayed, amplitude reduction, indicating generalised retinal cone system dysfunction; pattern electroretinograms: subnormal P50s in both eyes and loss of N95 in the left eye" "<1y" "" "progressive nyctalopia and decreasing visual acuity" "" "" "" "" "" "nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" "" "" "0000306970" "04214" "00415170" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity: 20/200 both eyes; refractive error right, left eye: of -2,5 dioptres (D), -2,0 D; anterior segment: normal; intraocular pressure right, left eye: 13, 15 mmHg; biometry: normal axial length of 24.6 mm on both eyes; fundoscopic examination: diminished foveal reflexes, and subtle retinal pigment epithelium mottling; spectral domain optical coherence tomography: subfoveal optical gap with sharp vertical edges, inner segment/outer segment junction line absent but the external limiting membrane well preserved; hyperreflective dots, presumably representing remnants of degenerating photoreceptors visible in the optical gap; fundus autofluorescence showed a small oval shaped subfoveal area of reduced fundus autofluorescence corresponding to the subfoveal gap observed on optical coherence tomography; small, deep optic nerve head drusen noted on ultrasonography; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): profoundly delayed b waves, bright flash dark adapted electroretinograms (DA 10.0): normally developing a waves with a broadened trough and high amplitude b waves, photopic flicker and single flash electroretinograms: delayed and reduced, indicating a generalised retinal cone system dysfunction; pattern electroretinograms: not detectable, in keeping with severe macular dysfunction" "15y" "" "decreasing visual acuity and light sensitivity" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307591" "04214" "00415819" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307592" "04214" "00415820" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307593" "04214" "00415821" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307594" "04214" "00415822" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307595" "04214" "00415823" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307596" "04214" "00415824" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307597" "04214" "00415825" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307598" "04214" "00415826" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307599" "04214" "00415827" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307600" "04214" "00415828" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307601" "04214" "00415829" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307602" "04214" "00415830" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307603" "04214" "00415831" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307604" "04214" "00415832" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307605" "04214" "00415833" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307606" "04214" "00415834" "00000" "Familial, autosomal recessive" "" "detailed clinical description of a subset of these patients has been presented in {PMID:Michaelides 2005:15722315}" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307650" "04214" "00415878" "00000" "Familial, autosomal recessive" "5y" "best corrected visual acuity right, left eye: 0.3, 0.3; refraction right, left eye: +3.50, -+3.50; nystagmus: no; color vision deficiency: yes; night blindness: yes; fundus: normal; progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307651" "04214" "00415879" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right, left eye: 0.3, 0.4; refraction right, left eye: -13.50-3.00x15deg, -13.50-3.00x170deg; nystagmus: yes; color vision deficiency: yes; night blindness: yes; fundus: slight foveal retinal pigment epithelium atrophy, myopic parapapillary crescent; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307652" "04214" "00415880" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 0.2, 0.25; refraction right, left eye: -4.00-5.0x25deg, -3.50-1.50x50deg; nystagmus: yes; color vision deficiency: yes; night blindness: no data; fundus: normal; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307653" "04214" "00415881" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 0.12, 0.12; refraction right, left eye: -5.25, -5.00; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: slight foveal atrophy; progression: yes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307654" "04214" "00415882" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity right, left eye: 0.1, 0.1; refraction right, left eye: +1.50-1.50x135deg, +2.50-1.00x75deg; nystagmus: no; color vision deficiency: yes; night blindness: no; fundus: distinct foveal retinal pigment epithelium atrophy; progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307655" "04214" "00415883" "00000" "Familial, autosomal recessive" "4y" "best corrected visual acuity right, left eye: 0.08, 0.05; refraction right, left eye: -5.00, -5.00-1.00x13deg; nystagmus: yes; color vision deficiency: no data; night blindness: no data; fundus: normal; progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307656" "04214" "00415884" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right, left eye: 0.5, 0.3; refraction right, left eye: +2.25, +3.25-1.25x15deg; nystagmus: no; color vision deficiency: yes; night blindness: no data; fundus: normal; progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307657" "04214" "00415885" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 0.08, 0.03; refraction right, left eye: -5.00-1.0x0deg, -6.00; nystagmus: yes; color vision deficiency: yes; night blindness: yes; fundus: distinct foveal retinal pigment epithelium atrophy; progression: yes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307658" "04214" "00415886" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 0.05, 0.05; refraction right, left eye: +0.75-0.25x100deg, +1.00-0.25x140deg; nystagmus: no; color vision deficiency: yes; night blindness: yes; fundus: distinct foveal retinal pigment epithelium atrophy; progression: yes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307659" "04214" "00415887" "00000" "Familial, autosomal recessive" "61y" "best corrected visual acuity right, left eye: 0.125, 0.25; refraction right, left eye: +2.00, +2.00-0.75x150deg; nystagmus: yes; color vision deficiency: yes; night blindness: yes; fundus: subtle foveal pigment irregularity; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307660" "04214" "00415888" "00000" "Familial, autosomal recessive" "21y" "best corrected visual acuity right, left eye: 0.4, 0.5; refraction right, left eye: +5.50-1.750deg, +6.00-1.50165deg; nystagmus: no; color vision deficiency: yes; night blindness: yes; fundus: normal; progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307661" "04214" "00415889" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right, left eye: 0.4, 0.2; refraction right, left eye: +1.75-1.25x145deg, +1.00-1.25x60deg; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: subtle foveal pigment irregularity; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307662" "04214" "00415890" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity right, left eye: 0.16, 0.16; refraction right, left eye: -2.0-0.5x130deg, -2.5-1.0x175deg; nystagmus: no; color vision deficiency: yes; night blindness: yes; fundus: foveal retinal pigment epithelium atrophy; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307663" "04214" "00415891" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 0.2, 0.2; refraction right, left eye: -5.75-0.5x110deg, -3.25-1.25x55deg; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: normal; progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307664" "04214" "00415892" "00000" "Familial, autosomal recessive" "28y" "best corrected visual acuity right, left eye: 0.1, 0.1; refraction right, left eye: -3.0-1.5x135deg, -1.25-1.0x10deg; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: maculopathy (posterior pole); progression: no" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307665" "04214" "00415893" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity right, left eye: 0.1, 0.08; refraction right, left eye: -13.0, -12.5-0.75x170deg; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: diffuse retinal pigment epithelium atrophy (posterior pole and peripapillary); progression: no data" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307666" "04214" "00415894" "00000" "Isolated (sporadic)" "26y" "symptoms: decreased vision, nystagmus; best corrected visual acuity: 20/200; refractive error: -2.25; fundus findings: granular changes; visual field findings: full; color vision abnormalities: protan; documented progression of condition: no progression at 2 year fol" "0m" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307667" "04214" "00415895" "00000" "Familial, autosomal recessive" "30y" "symptoms: decreased vision, photophobia; best corrected visual acuity: 20/200; refractive error: -1.25; fundus findings: granular changes; visual field findings: central scotoma (20deg); color vision abnormalities: protan-deutan; documented progression of condition: no progression at 2 year fol" "6y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307668" "04214" "00415896" "00000" "Isolated (sporadic)" "9y" "symptoms: decreased vision, nystagmus; best corrected visual acuity: 20/200; refractive error: 1.5; fundus findings: granular changes; visual field findings: full to V4e; could not see I4e; color vision abnormalities: nonspecific pattern; documented progression of condition: no data a" "4y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307669" "04214" "00415897" "00000" "Familial, autosomal recessive" "9y" "symptoms: decreased vision, nyctalopia, photophobia; best corrected visual acuity: 20/60; refractive error: 0.75; fundus findings: granular changes; visual field findings: central scotoma; color vision abnormalities: protan-deutan; documented progression of condition: no data ava" "0m" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307670" "04214" "00415898" "00000" "Familial, autosomal recessive" "17y" "symptoms: decreased vision, nyctalopia; best corrected visual acuity: 20/50; refractive error: -1.75; fundus findings: retinal pigment epithelium atrophy; visual field findings: central scotoma; color vision abnormalities: protan-deutan; documented progression of condition: decreased visual" "0m" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307671" "04214" "00415899" "00000" "Familial, autosomal recessive" "40y" "symptoms: decreased vision, nyctalopia; best corrected visual acuity: 20/60; refractive error: -7; fundus findings: retinal pigment epithelium atrophy; visual field findings: full; color vision abnormalities: normal; documented progression of conditi" "4y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307672" "04214" "00415900" "00000" "Isolated (sporadic)" "29y" "symptoms: decreased vision, nystagmus, photophobia; best corrected visual acuity: 20/300; refractive error: -10; fundus findings: normal; visual field findings: full; color vision abnormalities: severe abnormality; documented progression of condition: no data ava" "5y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307673" "04214" "00415901" "00000" "Isolated (sporadic)" "18y" "symptoms: decreased vision, nyctalopia, photophobia; best corrected visual acuity: 20/200; refractive error: -3.25; fundus findings: granular changes; visual field findings: full to V4e both eyes and I4e right eye, 5deg central scotoma to I4e left eye; color vision abnormalities: deutan; documented progression of condition: no data ava" "3y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307674" "04214" "00415902" "00000" "Familial, autosomal recessive" "11y" "functional signs: nystagmus at age 2; photophobia; mild night blindness; best corrected visual acuity and refraction right, left eye: -1.75 (-2.25; 115 degrees): 5/10, -0.50 (1.25; 65 degrees): 4/10; fundus: loss of foveal reflex; fine granular pigmentation of the macula; color vision: subnormal; Goldmann perimetry: six-degrees central scotoma at I4; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): supernormal at 634 uV;" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307675" "04214" "00415903" "00000" "Familial, autosomal recessive" "8y" "functional signs: no nystagmus; photophobia; mild night blindness; best corrected visual acuity and refraction right, left eye: -1.75 (-1.25;160 degrees): 3/10, -1.75 (1.00;10 degrees): 3/10; fundus: loss of foveal reflex; color vision: red-green axis of dyschromatopsia; Goldmann perimetry: 15-degrees central scotoma at I4; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): severely decreased at 43 uV" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307676" "04214" "00415904" "00000" "Familial, autosomal recessive" "22y" "functional signs: no nystagmus; intense photophobia; no night blindness; best corrected visual acuity and refraction right, left eye: +1.00 (1.50;160 degrees): 1.5/10, -2.00 (1.25;175 degrees): 1.5/10; fundus: loss of foveal reflex; color vision: red-green axis of dyschromatopsia; Goldmann perimetry: five-degrees central scotoma at I4; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): supernormal at 690 uV; highly decreased at 27 uV" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307677" "04214" "00415905" "00000" "Familial, autosomal recessive" "17y" "functional signs: no nystagmus; photophobia; mild night blindness; best corrected visual acuity and refraction right, left eye: -7.00 (1.25;170 degrees): 1.5/10, -7.50 (1.00; 30 degrees): 1.5/10; fundus: loss of foveal reflex; atrophy of peripapillary and inferior retina (myopia); color vision: red-green axis of dyschromatopsia; Goldmann perimetry: 20- to 30-degrees central scotoma at I4; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): supernormal at 560 uV; severely decreased at 37 uV" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307678" "04214" "00415906" "00000" "Familial, autosomal recessive" "9y" "functional signs: nystagmus at age 2; best corrected visual acuity and refraction right, left eye: -15.75 (1.75; 5 degrees): 1/20, -16.00 (1.25;140 degrees): 1/20; fundus: foveal depigmentation; atrophy of retina (myopia); color vision: scotopic axis of dyschromatopsia; Goldmann perimetry: not done; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): not done" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307679" "04214" "00415907" "00000" "Familial, autosomal recessive" "38y" "functional signs: no nystagmus; photophobia; no night blindness; best corrected visual acuity and refraction right, left eye: -8.00 (-0.75; 5 degrees): 1/10, -8.00 (-1.25;170 degrees): 1/10; fundus: round-shaped foveal atrophy; color vision: red-green axis of dyschromatopsia; Goldmann perimetry: central relative scotoma; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): supernormal at 588 uV; highly decreased at 15 uV" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307681" "04214" "00415909" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity right, left eye: 0.9, 0.75; refraction right, left eye: +1.50/+1.00x90, +1.50/+1.25x90; Ishihara colour vision test: test plate only; macular appearance on funduscopy: normal; fundus autofluorescence: parafoveal area of mildly increased autofluorescence; spectral domain optical coherence tomography - fovea: complete loss of photoreceptor layers in the fovea" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307682" "04214" "00415910" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right, left eye: 0.45, 0.35; refraction right, left eye: myopic prescription; Ishihara colour vision test: test plate only; macular appearance on funduscopy: subtle retinal pigment epithelium mottling in the fovea; fundus autofluorescence: parafoveal area of increased autofluorescence; spectral domain optical coherence tomography - fovea: focal disruption of reflective band at inner/outer segment junction" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307683" "04214" "00415911" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 0.25, 0.25; refraction right, left eye: emmetropic; Ishihara colour vision test: test plate only; macular appearance on funduscopy: granular macular appearance; fundus autofluorescence: abnormal foveal autofluorescence ; small parafoveal ring of increased autofluorescence; spectral domain optical coherence tomography - fovea: focal disruption of reflective band at inner/outer segment juncti" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307684" "04214" "00415912" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 0.2, 0.3; refraction right, left eye: -8.50/-0.50x130, -7.00/-0.75x5; Ishihara colour vision test: test plate only; macular appearance on funduscopy: granular macular appearance; fundus autofluorescence: parafoveal area of mildly increased autofluorescence; spectral domain optical coherence tomography - fovea: focal disruption of reflective band at inner/outer segment junction" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307685" "04214" "00415913" "00000" "Familial, autosomal recessive" "61y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone-rod dystrop" "" "0000307686" "04214" "00415914" "00000" "Familial, autosomal recessive" "42y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy" "" "0000307687" "04214" "00415915" "00000" "Familial, autosomal recessive" "13y" "electroretinogram b/a quotient not significantly elevated in high intensity" "" "" "" "" "" "" "" "" "cone dystrophy" "cone dystrophy" "" "0000307688" "04214" "00415916" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy" "" "0000307689" "04214" "00415917" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy" "" "0000307690" "04214" "00415918" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "achromatopsia/cone dystrophy" "" "0000307691" "04214" "00415919" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "achromatopsia / congenital cone dysfunction" "" "0000307692" "04214" "00415920" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsia" "" "0000307693" "04214" "00415921" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsia" "" "0000307694" "04214" "00415922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsie" "" "0000307695" "04214" "00415923" "00000" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsia" "" "0000307696" "04214" "00415924" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "achromatopsia" "" "0000307697" "04214" "00415925" "00000" "Familial, autosomal recessive" "42y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "achromatopsie" "" "0000307698" "04214" "00415926" "00000" "Familial, autosomal recessive" "46y" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsia" "" "0000307699" "04214" "00415927" "00000" "Familial, autosomal recessive" "20y" "best corrected visual acuity right/left eye: 0.1 / 0.1; refraction right, left eye: -0,25 -1.25/ 165deg , -0.25 - 0.75/ 32deg ; visual field: central scotoma for I/4e with 25deg diameter; III/4e outer border right eye normal, left eye slightly constricted; color vision: desaturated panel D15: moderate confusions; saturated version: right eye no mistake, left eye 3 mistakes; fundus: macula slight pigmentary changes, faint yellow dots in periphery; optical coherence tomography: central thickness reduced to 132 um fundus autofluorescence: smaller central area with reduced autofluorescence; macula surrounded by very faint ring of increased autofluorescence; electroretinogram, scotopic: dim severely delayed, mixed a: (border line delayed), mixed b: increased, delayed; photopic: 30hz decreased, delayed, a (border line decreased and delayed), b decreased and delayed; multifocal electroretinogram: remaining responses for peripheral hexagon" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy with supernormal rod response" "" "0000307700" "04214" "00415928" "00000" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal dystrophy" "" "0000307701" "04214" "00415929" "00000" "Familial, autosomal recessive" "44y" "best corrected visual acuity right/left eye: 0.03 / 0.03; refraction right, left eye: +1,0 -2,0/ 0deg +1,0 -2,0/ 30deg ; visual field: concentric constriction to ~75deg diameter Goldmann V/4e; color vision: desaturated panel D15: multiple confusions even of saturated panel D15; anomaloscope not possible; fundus: no macular reflex; optical coherence tomography: not done; fundus autofluorescence: not done; electroretinogram, scotopic: dim not recordable (with separate information on both eyes as required), mixed a: delayed, mixed b: decreased, delayed; photopic: 30hz decreased, delayed, a delayed, b decreased and delayed; multifocal electroretinogram: not done" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "achromatopsia / cone (rod) dystrophy" "" "0000307702" "04214" "00415930" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal dystrophy" "" "0000307703" "04214" "00415931" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy with supernormal rod response" "" "0000307704" "04214" "00415932" "00000" "Familial, autosomal recessive" "53y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy with supernormal rod response" "" "0000307705" "04214" "00415933" "00000" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "cone dystrophy with supernormal rod response" "" "0000307708" "04214" "00415937" "00000" "Familial, autosomal recessive" "2y" "reason for referral: abnormal head position, head shaking, ny stagmus; best corrected visual acuity right, left eye: not available; no nyctalopia; refraction right, left eye: +3.00, +3.00; fundus: within normal limits; fundus autofluorescence: within normal limits (7y); comments: 7y: abnormal head position & head shaking & nystagmus gone; 20/200 both eyes; fine foveal granularity both eyes but autofluorescence within normal limits" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307709" "04214" "00415938" "00000" "Familial, autosomal recessive" "5y" "reason for referral: intermittent exotropia; best corrected visual acuity right, left eye: 4/30, 4/30 (7y); nyctalopia; refraction right, left eye: +4.00, +4.00; fundus: retinal pigment epithelium foveal disturbance; fundus autofluorescence: perifoveal increased autofluorescence ring (12y); comments: 12y: 20/200 both eyes; bulls-eye maculopathy and perifoveal AF ring both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307710" "04214" "00415939" "00000" "Familial, autosomal recessive" "2y" "reason for referral: esotropia noted at 1 y; best corrected visual acuity right, left eye: 4/30, 4/30 (4y); no nyctalopia; refraction right, left eye: +4.00, +4.00; fundus: within normal limits; fundus autofluorescence: within normal limits (8y); comments: 8y: 20/200 both eyes; fundus exam within normal limits; retinoscopy approximately plano both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307711" "04214" "00415940" "00000" "Familial, autosomal recessive" "4y" "reason for referral: abnormal head position, head shaking, nystagmus; best corrected visual acuity right, left eye: not available; no nyctalopia; refraction right, left eye: +1.25-1.75x180, +1.25-1.75x180; fundus: within normal limits; fundus autofluorescence: not available; comments: 6y: abnormal head position & head shaking & nystagmus gone; 20/200 both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307712" "04214" "00415941" "00000" "Familial, autosomal recessive" "5y" "reason for referral: abnormal head position, head shaking, nystagmus; best corrected visual acuity right, left eye: not available; no nyctalopia; refraction right, left eye: +4.00-3.00x180, +4.00-3.00x180; fundus: within normal limits; fundus autofluorescence: not available; comments: 7y: head shaking gone; abnormal head position & nystagmus less; 4/30 both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307713" "04214" "00415942" "00000" "Familial, autosomal recessive" "1y" "reason for referral: glaucoma & nystagmus; best corrected visual acuity right, left eye: not available; no nyctalopia; refraction right, left eye: -2.75-4.00x160, -2.75-6.00x045; fundus: within normal limits; fundus autofluorescence: not available; comments: megalocornea (13mm horizontal corneal diameters) but no glaucoma; likes to stare at light" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307714" "04214" "00415943" "00000" "Familial, autosomal recessive" "8y" "reason for referral: V-pattern esotropia & decreased vision since 2y; best corrected visual acuity right, left eye: 20/70, 20/50 (8y); nyctalopia; refraction right, left eye: +3.00-1.50x180, +3.00-1.50x180; fundus: within normal limits within normal limits; fundus autofluorescence: within normal limits within normal limits; comments: 11y: 20/70, 20/100" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307715" "04214" "00415944" "00000" "Familial, autosomal recessive" "8y" "reason for referral: complaining of decreased near vision since 5 y; best corrected visual acuity right, left eye: 20/40, 20/70 (7y); no nyctalopia; refraction right, left eye: +1.00-1.50x180, +1.00-1.50x180; fundus: macular retinal pigment epithelium atrophy; fundus autofluorescence: not available; comments: 9y: 20/100 both eyes; small central scotoma both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307716" "04214" "00415945" "00000" "Familial, autosomal recessive" "3y" "reason for referral: infantile nystagmus (no abnormal head position or head shaking); best corrected visual acuity right, left eye: 20/400, 20/400 (10y); no nyctalopia; refraction right, left eye: -7.00 (10y) , -7.00 (10y); fundus: within normal limits; fundus autofluorescence: not available; comments: 10y: nystagmus less; small central scotoma both eyes" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307717" "04214" "00415946" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 0.125, 0.1; refraction right, left eye: -2.0/-1.0x145deg, -1.0; no night blindness; color vision: achromat; no nystagmus ; no strabismus; photophobia and a prolonged light adaptation" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307718" "04214" "00415947" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.04, 0.05; refraction right, left eye: -3.5/-2.25x174deg, not available; no night blindness; color vision: achromat; nystagmus ; strabismus; photophobia and a prolonged light adaptation" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307719" "04214" "00415948" "00000" "Familial, autosomal recessive" "28y" "best corrected visual acuity right, left eye: 0.16, 0.16; refraction right, left eye: -5.0/-1.5x2deg-3.5/-1.0x6deg; no night blindness; color vision: achromat; no nystagmus ; strabismus; photophobia and a prolonged light adaptation" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307722" "04214" "00415951" "00000" "Familial, autosomal recessive" "11y" "8y: salient history, symptoms, and signs: minimal nystagmus since infancy; diminution of vision for 2 y; no nyctalopia; mild hemeralopia; head shaking present; best corrected visual acuity right:left eye: 20/60:20/100; refraction right, left eye: +2.0 DSph/+1.0 DCyl x 115deg: +2.75 DSph/ +1.25 DCyl x 70deg; color vision both eyes: moderate red-green deficit, severe blue-yellow deficit; contrast sensitivity right:left eye: 1.35:1.05;11y: salient history, symptoms, and signs:micronystagmus; head shaking absent; best corrected visual acuity right:left eye: 20/200:20/125; refraction right, left eye: unchanged; color vision both eyes: severe red-green and blue-yellow deficits; contrast sensitivity right:left eye: 1.05:1.05; 11y: macular fundus appearance: dull foveal reflex; autofluorescence: faint perifoveal hyperfluorescent ring; optical coherence tomography right:left eye: disruption of photoreceptor inner/outer segment junction and photoreceptor outer segment at the fovea; central subfield thickness, 175:172 um;e average thickness, 264:265 um" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307723" "04214" "00415952" "00000" "Familial, autosomal recessive" "18y" "16y: salient history, symptoms, and signs: nystagmus since infancy that improved; diminution of vision for 10 y; photophobia for 15 y; takes time to adjust to dimly lit conditions; best corrected visual acuity right:left eye: 20/70:20/200; refraction right, left eye: -3.50 DSph/+0.75 DCyl x60deg: Plano/ +0.50 DCyl x 120deg; color vision both eyes: severe red-green and blue-yellow deficits; contrast sensitivity right:left eye: 1.05:1.05;18y: salient history, symptoms, and signs:no change in symptoms noted; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: unchanged; color vision both eyes: severe red-green and blue-yellow deficits; contrast sensitivity right:left eye: 1.05:1.05; 18y: macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: hyperfluorescence at perifoveal region; optical coherence tomography right:left eye: disruption of photoreceptor inner/outer segment junction and outer segment at the fovea; central subfield thickness, 168:um; cube average thickness, 250:244 um" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307724" "04214" "00415953" "00000" "Familial, autosomal recessive" "15y" "4y: salient history, symptoms, and signs: diminution of vision; horizontal nystagmus; right esotropia 20 prism diopters; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -5.50 DSph: -6.75 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: not tested;15y: salient history, symptoms, and signs:improvement in nystagmus; nyctalopia for 12 y; photophobia for 9 y; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -9.0 DSph/+1.75 DCyl x 90deg: -10.25 DSph/+1.0 DCyl x 90deg; color vision both eyes: severe red-green and blue-yellow deficits; contrast sensitivity right:left eye: 1.05:1.05; 15y: macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: broad parafoveal ring of hyperfluorescence with central retinal pigment epithelium atrophy; optical coherence tomography right:left eye: complete disruption of photoreceptor inner/outer segment junction and outer segment at the fovea; centrabfield thickness, 162:166 um; cube average thickness, 251:247 um" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307725" "04214" "00415954" "00000" "Familial, autosomal recessive" "13y" "2y: salient history, symptoms, and signs: asymptomatic; best corrected visual acuity right:left eye: central steady maintenance; refraction right, left eye: +0.25 DSph: +1.00 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: not tested;13y: salient history, symptoms, and signs: nyctalopia for 9 y; photophobia for 4 y; micronystagmus; best corrected visual acuity right:left eye: 20/125:20/200; refraction right, left eye: -7.0 DSph: -6.25 DSph; color vision both eyes: protan and tritan deficits (large d15); contrast sensitivity right:left eye: 1.20:1.20; 13y: macular fundus appearance: dull foveal reflex; autofluorescence: faint perifoveal hyperfluorescent ring; optical coherence tomography right:left eye: presence of all layers at fovea, mild disruption of photoreceptor inner/outer segment junction at fovea; central subfield thickness, 211:204 um; cube average thickness, 260:274 um" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307726" "04214" "00415955" "00000" "Familial, autosomal recessive" "11y" "4y: salient history, symptoms, and signs: horizontal nystagmus for 4 y; head shaking for 1 y; diminution of distant vision; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: +1.50 DSph: +2.00 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: 1.20:1.20; 11y: salient history, symptoms, and signs:nystagmus improved; photophobia for 7 y; nyctalopia for 3 y; head shaking better; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: unchanged; color vision both eyes: severe red-green deficit, moderate blue-yellow deficit; contrast sensitivity right:left eye: 1.20:1.20; 11y: macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: faint perifoveal hyperfluorescent ring; optical coherence tomography right:left eye: early disruption of photoreceptor inner/outer segment junction and outer segment layer at the fovea; central subfield thickness, 185:not available; cube average thickness, 251:not available" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307727" "04214" "00415956" "00000" "Familial, autosomal recessive" "9y" "9y: salient history, symptoms, and signs: no nystagmus; mild nyctalopia for 5 y; photophobia for 5 y; best corrected visual acuity right:left eye: 20/125:20/200; refraction right, left eye: -7.0 DSph/+1.0 DCyl x 130deg: -6.75 DSph; color vision both eyes: severe red-green deficit, moderate blue-yellow deficit; contrast sensitivity right:left eye: 1.05:1.05;y: salient history, symptoms, and signs:; best corrected visual acuity right:left eye: ; refraction right, left eye: ; color vision both eyes: ; contrast sensitivity right:left eye: 1.05:1.05; macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: faint hyperfluorescence at the fovea; optical coherence tomography right:left eye: optical gap at the fovea, disruption of photoreceptor inner/outer segment junction and photoreceptor outer segment at fovea, presence of inner retinal layers at foveola; central subfield thickness, 198:198 um; cube average thickness, 240:248" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307728" "04214" "00415957" "00000" "Familial, autosomal recessive" "17y" "6y: salient history, symptoms, and signs: nyctalopia and photophobia; micronystagmus; alternate exotropia 20 prism diopters; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -2.5 DSph: -3.5 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: not tested; 10y: salient history, symptoms, and signs:no worsening of symptoms; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -4.0 DSph/-1.00 DCyl x 180deg; -4.75 DSph/-0.75 DCyl x 180deg; color vision both eyes: severe red-green deficit, moderate blue-yellow deficit; contrast sensitivity right:left eye: 0.45:0.45salient history, symptoms, and signs: 17y: worsening of distance vision; best corrected visual acuity right:left eye: 20/400:20/400; refraction right, left eye: unchanged; color vision both eyes: not tested; contrast sensitivity right:left eye: 0.45:0.45; macular fundus appearance: dull foveal reflex; autofluorescence: perifoveal ring of hyperfluorescence; oal coherence tomography right:left eye: optical gap at the fovea, disruption of photoreceptor inner/outer segment junction and photoreceptor outer segment at fovea; central subfield thickness, 172:185 um; cube average thickness, 236:233 um" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307729" "04214" "00415958" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity, refraction both eyes: 0.17, -3.00; full-field electroretinography light-adapted cone flicker amplitude: 36, implicit time: 37" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy/maculopathy" "" "0000307730" "04214" "00415959" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity, refraction both eyes: 0.1, -4.75; full-field electroretinography light-adapted cone flicker amplitude: reported as supernormal, implicit time: not available" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy" "" "0000307731" "04214" "00415960" "00000" "Familial, autosomal recessive" "19y" "best corrected visual acuity, refraction both eyes: 0.15, -5.00; full-field electroretinography light-adapted cone flicker amplitude: 18, implicit time: 43" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy" "" "0000307732" "04214" "00415961" "00000" "Familial, autosomal recessive" "20y" "best corrected visual acuity, refraction both eyes: 0.17, +0.25; full-field electroretinography light-adapted cone flicker amplitude: 39, implicit time: 41" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy with supernormal rod electroretinogram" "" "0000307733" "04214" "00415962" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307734" "04214" "00415963" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity, refraction both eyes: 0.05, -0.75; full-field electroretinography light-adapted cone flicker amplitude: 67, implicit time: 37" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy with supernormal rod electroretinogram" "" "0000307735" "04214" "00415964" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307736" "04214" "00415965" "00000" "Familial, autosomal recessive" "14y" "best corrected visual acuity, refraction both eyes: 0.3, -3.50; full-field electroretinography light-adapted cone flicker amplitude: 43, implicit time: 38" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "cone dystrophy/maculopathy" "" "0000307751" "04214" "00415981" "00000" "Familial, autosomal recessive" "9y" "best corrected visual acuity right, left eye: 0.7, 0.8; fundus: retinal pigment epithelium mottling: macula, subtle patchy granular flecks: not detected; autofluorescence, ring enhancement: fovea, patchy granular foci of high signal: not detected; optical coherence tomography, absence of cone outer segment tip line: fovea, deficit of photoreceptor inner and outer segment junction: not detected; electroretinogram, dark-adapted 0.01, amplitude (uV): normal, peak time (ms): delayed; dark-adapted 30, A-wave amplitude: normal, peak time: delayed; B-wave amplitude:supernormal, peak time: not available; square shaped a-wave: (+); excessive enlargement of b-wave in the extended protocol: (+); light-adapted 3.0, A-wave amplitude: subnormal, peak time: delayed; B-wave amplitude:subnormal, peak time: undetectable response; light-adapted 3.0 30Hz, B-wave amplitude: undetectable response, peak time: undetectable response" "23y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307752" "04214" "00415982" "00000" "Familial, autosomal recessive" "5y" "best corrected visual acuity right, left eye: 0.7, 0.7; fundus: retinal pigment epithelium mottling: macula, subtle patchy granular flecks: not detected; autofluorescence, ring enhancement: fovea, patchy granular foci of high signal: not detected; optical coherence tomography, absence of cone outer segment tip line: fovea, deficit of photoreceptor inner and outer segment junction: not detected; electroretinogram, dark-adapted 0.01, amplitude (uV): undetectable response, peak time (ms): undetectable response; dark-adapted 30, A-wave amplitude: normal, peak time: delayed; B-wave amplitude:supernormal, peak time: not available; square shaped a-wave: (+); excessive enlargement of b-wave in the extended protocol: not available; light-adapted 3.0, A-wave amplitude: subnormal, peak time: delayed; B-wave amplitude:subnormal, peak time: delayed; light-adapted 3.0 30Hz, B-wave amplitude: subnormal, peak time: delayed" "17y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307753" "04214" "00415983" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right, left eye: 0.1, 0.1; fundus: retinal pigment epithelium mottling: macula, subtle patchy granular flecks: macula; autofluorescence, ring enhancement: fovea, patchy granular foci of high signal: macula; optical coherence tomography, absence of cone outer segment tip line: macula, deficit of photoreceptor inner and outer segment junction: fovea; electroretinogram, dark-adapted 0.01, amplitude (uV): subnormal, peak time (ms): delayed; dark-adapted 30, A-wave amplitude: normal, peak time: delayed; B-wave amplitude:supernormal, peak time: normal; square shaped a-wave: (+); excessive enlargement of b-wave in the extended protocol: not available; light-adapted 3.0, A-wave amplitude: subnormal, peak time: delayed; B-wave amplitude:subnormal, peak time: delayed; light-adapted 3.0 30Hz, B-wave amplitude: subnormal, peak time: normal" "21y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307754" "04214" "00415984" "00000" "Familial, autosomal recessive" "2y" "best corrected visual acuity right, left eye: 0.1, 0.08; fundus: retinal pigment epithelium mottling: macula, subtle patchy granular flecks: not detected; autofluorescence, ring enhancement: para-fovea, patchy granular foci of high signal: not detected; optical coherence tomography, absence of cone outer segment tip line: macula, deficit of photoreceptor inner and outer segment junction: fovea; electroretinogram, dark-adapted 0.01, amplitude (uV): subnormal, peak time (ms): delayed; dark-adapted 30, A-wave amplitude: normal, peak time: delayed; B-wave amplitude:supernormal, peak time: not available; square shaped a-wave: (+); excessive enlargement of b-wave in the extended protocol: (+); light-adapted 3.0, A-wave amplitude: subnormal, peak time: delayed; B-wave amplitude:subnormal, peak time: delayed; light-adapted 3.0 30Hz, B-wave amplitude: subnormal, peak time: delayed" "17y" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307755" "04214" "00415985" "00000" "Familial, autosomal recessive" "47y" "decreased visual acuity and a history of hemeralopia and photophobia for several years; best-corrected visual acuity right, left eye: 20/150, 20/100; pupils, extraocular movements, confrontational visual fields, intraocular pressures, and anterior segment examination findings: normal limits; color vision: 3/6 on Hardy-RandRittler plates in both eyes; fundus: bilateral macular atrophy with retinal pigment epithelium changes and pale optic nerves with peripapillary atrophy, right eye: moderately dense asteroid hyalosis; fundus autofluorescence: bilateral patchy, central hypoautofluorescence surrounded by a ring of high-density hyperautofluorescence in the macula; spectral-domain optical coherence tomography: diffuse outer retinal atrophy as evidenced by loss of inner-outer segment continuity and loss of outer nuclear layer-outer plexiform layer normal architecture as well as granular changes corresponding to the hyperreflective crystalline lesions seen on fundus examination; mean full-field electroretinograms and respective stereotypical tracings: significant delays and amplitudinal loss in the photopic cone and 30-Hz flicker ERGs indicating generalized cone system dysfunction; bipolar cell-corresponding b-waves reduced compared with the photoreceptor-specific a-wave; dim-flash, scotopic rod electroretinograms (0.01 candelasxs/m2): profoundly delayed b-waves, bright-flash, maximum cone and rod electroretinograms (11 candelasxs/m2): a significantly increased amplitude along with a prolonged b-wave" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307764" "04214" "00415998" "00000" "Familial, autosomal recessive" "6y" "poor vision from birth; 4m: nystagmus; 5y: difficulties with night vision no family history, no systemic problems; best corrected visual acuity right, left eye: 20/125, 20/320 (Sheridan Gardner matching letters); no strabismus; fine, high-frequency, low-amplitude horizontal nystagmus, with no altered head posture; refraction right, left eye: -3.75 +1.00 x 90, -6.00 +2.50 x 90 in the left eye; fundus: mild myopic changes, with subtle macular pigmentary changes; optical coherence tomography: loss of resolution and volume of the photoreceptor complex at the fovea; fundus autofluorescence testing: not tolerated; electroretinography, recorded with skin electrodes: a subnormal and markedly delayed rod electroretinogram and a broad and delayed a-wave to a bright flash, with a \"\"squared” o\"\"rhomboid” appearance, followed by a steeply rising high amplitude b-wave; cone system-derived photopic single flash and flicker electroretinogram barely detectab" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307769" "04214" "00416003" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: 6/60, 6/60; losses for vision mediated by rods, S-cones, and L-cones roughly equivalent" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307770" "04214" "00416004" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right, left eye: 6/36, 6/36; losses for vision mediated by rods, S-cones, and L-cones roughly equivalent" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307771" "04214" "00416005" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 6/36, 6/36; losses for vision mediated by rods, S-cones, and L-cones roughly equivalent" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307772" "04214" "00416006" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity right, left eye: 6/60, 6/60; losses for vision mediated by rods, S-cones, and L-cones roughly equivalent" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307773" "04214" "00416007" "00000" "Familial, autosomal recessive" "44y" "best corrected visual acuity right, left eye: 6/24, 6/36; losses for vision mediated by rods, S-cones, and L-cones roughly equivalent" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307774" "04214" "00416008" "00000" "Familial, autosomal recessive" "38y" "decreased vision and photophobia but no nyctalopia; history remarkable for vision loss in the sister and maternal aunt; best corrected visual acuity right, left eye: 20/100, 20/125; anterior segment: normal; retinal examination: myopic tilted disks and peripapillary atrophy, macula unremarkable; fundus autofluorescence: mild perifoveal mottled autofluorescence in both eyes; spectral domain optical coherence tomography: central ellipsoid loss with a well-defined subfoveal region of inner segment ellipsoid zone loss and an intact external limiting membrane; full-field electroretinogram: severely reduced and delayed dark-adapted and rod-isolated response to dim flashes that was symmetric between eyes; dark-adapted maximal response illustrated normal a-wave and b-wave amplitudes and normal implicit times for both eyes; cone-isolated response to 1-Hz flashes was abnormal with evidence of selective loss at the level of the b wave with a relatively normal a wave, the latter driven by cone photoreceptors, 30-Hz cone flicker responses markedly decreased with borderline timing; follow-up over 2 years: stable visual acuity and stable retinal examination bilaterally" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000307775" "04214" "00416009" "00000" "Familial, autosomal recessive" "30y" "vision loss from childhood. ; during elementary school, her best corrected visual acuity was 0.3, elder brother similar symptoms; first examination: best corrected visual acuity and refraction right, left eye: 0.1 (spherical - 1.75 diopters (D) cylinder - 2.25 D Axis 130 deg), 0.09 (spherical - 8.00 D cylinder - 0.50 D Axis 135deg); slit lamp examination: no remarkable findings in the anterior segments and media; funduscopy: macular atrophy in both eyes; full field electroretinography: results: diminished amplitudes of b-waves for DA0.0005, decreased amplitudes and delayed peak time in b-waves for DA0.002 and DA0.01, increased b/a-wave ratio with a slightly diminished a-wave for DA3.0 and DA25.7, diminished a-wave and almost extinguished b-wave amplitudes for light-adapted (LA) 3.0, and extremely diminished amplitudes in LA 30-Hz flicker responses, compared with controls, peak time of LA 3.0 and LA 30-Hz flicker delayed; 31y: Ishihara test: failure of almost all plates except for the 1st and 14th plates in the right eye and the 1st, 7th, 14th, 15th, and 16th plates in the left eye, panel D-15 test: no errors in either eye; Goldmann visual field: preserved peripheral visual field and central scotomas of the I-3e and I-4e isopters within 10 degrees in both eyes; Farnsworth Munsell 100-hue tests: square roots calculated from the total error scores were 21.0 in the right eye and 24.1 in the left eye, with both of these square roots out of the normal range; 34y: funduscopy: enlarged macular atrophy in both eyes compared with that observed at the age of 30y; follow-up at the age of 45y: best corrected visual acuity remained at 0.1 in both eyes; funduscopy: macular atrophy with normal peripheral retina in both eyes; with the area of the macular atrophy enlarged; complete loss of autofluorescence corresponding with the macular atrophy, and there is hyper-autofluorescence surrounding the atrophy; spectral domain optical coherence tomography: horizontal B-scan 6 mm images macular thinning with loss of the outer nuclear layer, external limiting membrane, ellipsoid zone, interdigitation zone and retinal pigment epithelium which corresponded with the area of the macular atrophy observed in the funduscopy; full field electroretinography: no apparent change in any of the responses ; Goldmann visual field testing: preserved peripheral visual field and central scotoma of the V-4e isopters of about 10 degrees in both eyes (worsened)" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod electroretinogram" "" "" "0000311688" "04214" "00420440" "00000" "Familial, autosomal recessive" "61y2m" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000313191" "04214" "00421987" "00000" "Familial, autosomal recessive" "9y" "nystagmus; photophobia; nyctalopia; refraction spherical equivalent right, left eye: -6.75, -7.5; best corrected visual acuity right, left eye: 20/160, 20/100; near vision right, left eye: 1, 1; color visionMild–mod; color defect: deutran; contrast sensitivity 100: 0.8/0.8; col 25: 0.8/0.8; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313192" "04214" "00421988" "00000" "Isolated (sporadic)" "12y" "nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -6, -6.5; best corrected visual acuity right, left eye: 20/200, 20/200; near vision right, left eye: 0.9, 0.9; color visionNormal; color defect: none; contrast sensitivity 100: 0.8/0.8; col 25: 1/1; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313193" "04214" "00421989" "00000" "Isolated (sporadic)" "22y" "no nystagmus; photophobia; no nyctalopia; refraction spherical equivalent right, left eye: -8.5, -9.5; best corrected visual acuity right, left eye: 20/200, 20/200; near vision right, left eye: 0.9, 1; color visionMild–mod; color defect: deutran; contrast sensitivity 100: 0.8/0.8; col 25: 1.2/1.3; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313194" "04214" "00421990" "00000" "Isolated (sporadic)" "13y" "no nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -0.5, -0.5; best corrected visual acuity right, left eye: 20/40, 20/40; near vision right, left eye: 0.9, 0.9; color visionMild–mod; color defect: tritan; contrast sensitivity 100: 0.9/0.9; col 25: 1/1; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313195" "04214" "00421991" "00000" "Isolated (sporadic)" "18y" "no nystagmus; photophobia; nyctalopia; refraction spherical equivalent right, left eye: -3, -3.5; best corrected visual acuity right, left eye: 20/200, 20/200; near vision right, left eye: 0.9, 0.9; color visionNormal; color defect: none; contrast sensitivity 100: 1.3/1.3; col 25: Nil/Nil; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313196" "04214" "00421992" "00000" "Isolated (sporadic)" "42y" "no nystagmus; photophobia; no nyctalopia; refraction spherical equivalent right, left eye: -1.5, -0.5; best corrected visual acuity right, left eye: 20/200, 20/200; near vision right, left eye: 0.8, 0.8; color visionSevere; color defect: mixed; contrast sensitivity 100: 2/2; col 25: Nil/Nil; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313197" "04214" "00421993" "00000" "Isolated (sporadic)" "47y" "no nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -6.6, -6; best corrected visual acuity right, left eye: 20/60, 20/40; near vision right, left eye: 0.1, 0.1; color visionNormal; color defect: none; contrast sensitivity 100: 0.5/0.5; col 25: 0.7/0.7; col 2,5: 1/1" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313198" "04214" "00421994" "00000" "Isolated (sporadic)" "5y" "nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -5.5, -5; best corrected visual acuity right, left eye: 20/40, 20/50; near vision right, left eye: 0.9, 0.9; color visionMild–mod; color defect: mixed; contrast sensitivity 100: 1/1; col 25: 1.2/1.3; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313199" "04214" "00421995" "00000" "Isolated (sporadic)" "3y" "nystagmus; photophobia; no nyctalopia; refraction spherical equivalent right, left eye: -1, -1; best corrected visual acuity right, left eye: 20/30, 20/70; near vision right, left eye: N/A, N/A; color visionnot available; color defect: not available; contrast sensitivity 100: N/A/N/A; col 25: N/A/N/A; col 2,5: n/A/n/A" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313200" "04214" "00421996" "00000" "Isolated (sporadic)" "18y" "no nystagmus; photophobia; nyctalopia; refraction spherical equivalent right, left eye: -6, -5.5; best corrected visual acuity right, left eye: 20/300, 20/300; near vision right, left eye: 0.8, 0.9; color visionNormal; color defect: none; contrast sensitivity 100: 0.8/0.8; col 25: 1.3/1.3; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313201" "04214" "00421997" "00000" "Isolated (sporadic)" "20y" "nystagmus; photophobia; no nyctalopia; refraction spherical equivalent right, left eye: -0.5, -0.5; best corrected visual acuity right, left eye: 20/100, 20/200; near vision right, left eye: 1.1, 1.2; color visionNormal; color defect: none; contrast sensitivity 100: 1.3/1.3; col 25: 1.3/1.3; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313202" "04214" "00421998" "00000" "Isolated (sporadic)" "16y" "no nystagmus; photophobia; no nyctalopia; refraction spherical equivalent right, left eye: -1.5, -1; best corrected visual acuity right, left eye: 20/50, 20/50; near vision right, left eye: 1, 1.1; color visionMild–mod; color defect: deutran; contrast sensitivity 100: 1.3/1.3; col 25: 1.3/1.3; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313203" "04214" "00421999" "00000" "Isolated (sporadic)" "7y" "nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -9, -9; best corrected visual acuity right, left eye: 20/300, 20/300; near vision right, left eye: 0.9, 0.9; color visionSevere; color defect: deutran; contrast sensitivity 100: 0.6/0.6; col 25: 0.7/0.7; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313204" "04214" "00422000" "00000" "Isolated (sporadic)" "19y" "nystagmus; photophobia; nyctalopia; refraction spherical equivalent right, left eye: -3.5, -4; best corrected visual acuity right, left eye: 20/200, 20/200; near vision right, left eye: 1.1, 1.1; color visionMild–mod; color defect: tritan; contrast sensitivity 100: 1.3/1.3; col 25: 1.3/1.3; col 2,5: nil/n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313205" "04214" "00422001" "00000" "Isolated (sporadic)" "15y" "nystagmus; no photophobia; nyctalopia; refraction spherical equivalent right, left eye: -6, -6; best corrected visual acuity right, left eye: 20/50, 20/40; near vision right, left eye: 0.8, 0.8; color visionNormal; color defect: none; contrast sensitivity 100: 0.7/0.7; col 25: 0.8/0.8; col 2,5: nil/nil" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313426" "04214" "00422222" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 6/24 ,6/18; refraction spherical equivalent right, left eye: -5.75, ���5.25; nyctalopia; no photopsia; dyschromatopsia; no nystagmus; n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313427" "04214" "00422223" "00000" "Familial, autosomal recessive" "8y" "best corrected visual acuity right, left eye: 6/24 ,6/45; refraction spherical equivalent right, left eye: -4.75, ���5.00; no nyctalopia; no photopsia; dyschromatopsia; no nystagmus; n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313428" "04214" "00422224" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right, left eye: 3/7.5 ,3/7.5; refraction spherical equivalent right, left eye: -0.50, ���0.50; no nyctalopia; no photopsia; no dyschromatopsia; no nystagmus" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313429" "04214" "00422225" "00000" "Familial, autosomal recessive" "2y" "best corrected visual acuity right, left eye: 6/48 ,6/48; refraction spherical equivalent right, left eye: +0.75, +1.00; nyctalopia; no photopsia; no dyschromatopsia; nystagmus; tropia" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313430" "04214" "00422226" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity right, left eye: 6/120 ,6/120; refraction spherical equivalent right, left eye: -3.75, ���2.75; nyctalopia; photopsia; no dyschromatopsia; nystagmus; n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313431" "04214" "00422227" "00000" "Familial, autosomal recessive" "51y" "best corrected visual acuity right, left eye: 6/120 ,6/45; refraction spherical equivalent right, left eye: -6.00, ���4.00; nyctalopia; photopsia; no dyschromatopsia; nystagmus; n" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313432" "04214" "00422228" "00000" "Familial, autosomal recessive" "79y" "best corrected visual acuity right, left eye: 6/120 ,6/120; refraction spherical equivalent right, left eye: NR; no nyctalopia; no photopsia; no dyschromatopsia; no nystagmus; no tropia" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313433" "04214" "00422229" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313434" "04214" "00422230" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313435" "04214" "00422231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313436" "04214" "00422232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313437" "04214" "00422233" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313438" "04214" "00422234" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313439" "04214" "00422235" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313440" "04214" "00422236" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313441" "04214" "00422237" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313442" "04214" "00422238" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313443" "04214" "00422239" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313444" "04214" "00422240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313445" "04214" "00422241" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313446" "04214" "00422242" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313447" "04214" "00422243" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313448" "04214" "00422244" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313449" "04214" "00422245" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313450" "04214" "00422246" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313451" "04214" "00422247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313452" "04214" "00422248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313453" "04214" "00422249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313454" "04214" "00422250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313455" "04214" "00422251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313456" "04214" "00422252" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313457" "04214" "00422253" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313458" "04214" "00422254" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313459" "04214" "00422255" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313460" "04214" "00422256" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313461" "04214" "00422257" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313462" "04214" "00422258" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313463" "04214" "00422259" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313464" "04214" "00422260" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313465" "04214" "00422261" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313466" "04214" "00422262" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313467" "04214" "00422263" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313468" "04214" "00422264" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313469" "04214" "00422265" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313470" "04214" "00422266" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313471" "04214" "00422267" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313472" "04214" "00422268" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313473" "04214" "00422269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313474" "04214" "00422270" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313475" "04214" "00422271" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313476" "04214" "00422272" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313477" "04214" "00422273" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313478" "04214" "00422274" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313479" "04214" "00422275" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313480" "04214" "00422276" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313481" "04214" "00422277" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313482" "04214" "00422278" "00000" "Familial, autosomal recessive" "17y" "photophobia and abnormal color vision since childhood; 17y first visit: best corrected visual acuity: 0.15 both eyes, maintained for 5 years; fundus photography: de-pigmented atrophic changes in both maculae, with optic disk cupping in the right eye. ; fundus autofluorescence: ring of hyperautofluorescence at the perifovea in both eyes; follow-up - disappearance of the ring, but clear enlargement of the atrophic areas of low autofluorescence density, with well-demarcated macular atrophy 22y; spectral domain optical coherence tomography: loss of photoreceptor layers at the maculae, with a relatively well maintained retinal pigment epithelium; 5-year follow-up period - thinning of the sensory retinal layers, clear loss of outer retinal structures and retinal pigment epithelium atrophy at the maculae, corresponding to the atrophic area seen on funduscopy/fundus autofluorescence; significantly thinned fovea - minimal change over the 5-year period; electrophysiological findings: 17y first presentation (baseline), the b-wave in the dark-adapted 0.01 condition: delayed in the peak time and reduced in the amplitude; as the flash strength increased, there was a profound and abnormal increase in the amplitude of the rod-mediated dark-adapted electroretinogram b-wave; strongest flashes: the dark-adapted electroretinogram a-wave: abnormally broad and delayed, similar to a square wave but with a late negative component; no detectable; electroretinogram: responses were observed in the light-adapted conditions (light-adapted 3.0 and light-adapted 3.0 30 Hz); shapes of the dark-adapted stimulus; electroretinogram: series for the a-waves and b-waves were abnormal at both baseline and follow-up (19 and 22y): electroretinograms: undetectable to the dimmest flashes, but the b-waves exhibited abnormal enlargement as the stimulus strength increased; the baseline a-waves smaller to flash strengths greater than 1.0 cd. s.m-2, relative stability at follow-up visits, and baseline b-waves larger to flash strengths greater than 0.03 cd.s.m-2; follow-up electroretinogram: b-waves to the flashes >0.03 cd.s.m-2 were slightly smaller than those at baseline; the right eye b-waves were similar at the ages of 19 and 22; left eye b-waves smallest at the last visit; multifocal electroretinogram: gross abnormality (i.e. severe generalised reduction of the traces across all hexagons), consistent with severe cone system dysfunction across the posterior pole; no significant progression, fundus autofluorescence: enlargement of hypoautofluorescence at the maculae from 19 to 22y" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313483" "04214" "00422279" "00000" "Familial, autosomal recessive" "25y" "best-corrected visual acuity, first visit: 18y,0.5/0.5 best-corrected visual acuity, last visit: 25y,1.0/1.0; refraction right, left eye: emmetropic/emmetropic; dischromatopsia; photophobia; no nyctalopia; no nystagmus; macular appearance on fundoscopy: retinal pigment epithelium changes with areas of atrophy; fundus autofluorescence: patchy decreased autofluorescence surrounded by a ring of increased autofluorescence; spectral domain optical coherence tomography: loss of the ellipsoid and external limiting membrane layers in the fovea, with preservation of the outer nuclear layer" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313484" "04214" "00422280" "00000" "Familial, autosomal recessive" "30y" "best-corrected visual acuity, first visit: 26y,44562 best-corrected visual acuity, last visit: 30y,1.2/1.2; refraction right, left eye: -3.75 -0.75 x 90deg/-3.75 -2.00 x 75deg; dischromatopsia; photophobia; no nyctalopia; nystagmus; macular appearance on fundoscopy: retinal pigment epithelium changes with atrophy and pigmentation; fundus autofluorescence: patchy decreased autofluorescence surrounded by a ring of increased autofluorescence; spectral domain optical coherence" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313485" "04214" "00422281" "00000" "Familial, autosomal recessive" "32y" "best-corrected visual acuity, first visit: 7y,0.4/0.4 best-corrected visual acuity, last visit: 32y,0.6/0.6; refraction right, left eye: emmetropic/emmetropic; dischromatopsia; photophobia; no nyctalopia; no nystagmus; macular appearance on fundoscopy: dull foveal reflex; fundus autofluorescence: faint perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: discontinuous loss of photoreceptor layers in the fovea" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313486" "04214" "00422282" "00000" "Familial, autosomal recessive" "34y" "best-corrected visual acuity, first visit: 9y,0.3/0.3 best-corrected visual acuity, last visit: 34y,1.0/1.0; refraction right, left eye: emmetropic/emmetropic; dischromatopsia; photophobia; no nyctalopia; no nystagmus; macular appearance on fundoscopy: bull\'s eye type maculopathy; fundus autofluorescence: patchy decreased autofluorescence surrounded by ring of increased autofluorescence; spectral domain optical coherence tomography: mild and discontinuous loss of the ellipsoid layer in the fovea" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000313487" "04214" "00422283" "00000" "Familial, autosomal recessive" "47y" "best-corrected visual acuity, first visit: 20y,44562 best-corrected visual acuity, last visit: 47y,1.5/1.5; refraction right, left eye: -1.00/-0.50; dischromatopsia; photophobia; nyctalopia; nystagmus; esotropia both eyes; macular appearance on fundoscopy: macular atrophy; fundus autofluorescence: central loss of autofluorescence; spectral domain optical coherence tomography: complete photoreceptor layers loss; loss of the inte" "" "" "" "" "" "" "" "" "cone dystrophy with supernormal rod response" "" "" "0000318048" "04214" "00426910" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "cone dystrophy" "" "0000318051" "04214" "00426913" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "cone dystrophy" "" "0000318054" "04214" "00426916" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000336250" "00198" "00447051" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336259" "00198" "00447060" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336396" "00198" "00447197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336721" "00198" "00447522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336726" "00198" "00447527" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336727" "00198" "00447528" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000339924" "04249" "00450869" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339925" "04249" "00450870" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339926" "04249" "00450871" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339927" "04249" "00450872" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339928" "04249" "00450873" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339929" "04249" "00450874" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000339930" "04249" "00450875" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339931" "04249" "00450876" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339932" "04249" "00450877" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339933" "04249" "00450878" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 328 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000144774" "00143915" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000156349" "00155484" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156350" "00155485" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156351" "00155486" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156352" "00155487" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156353" "00155488" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156354" "00155489" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000296006" "00294838" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296007" "00294839" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296008" "00294840" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306376" "00305247" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309757" "00308612" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309869" "00308724" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000310348" "00309203" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310349" "00309204" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310350" "00309205" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310351" "00309206" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310352" "00309207" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310353" "00309208" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310354" "00309209" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310355" "00309210" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310985" "00309840" "1" "00006" "00006" "2020-09-04 13:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000326682" "00325471" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329319" "00328104" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329512" "00328297" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329674" "00328459" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000335215" "00333989" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335216" "00333990" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335686" "00334457" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000360476" "00359238" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363376" "00362147" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363396" "00362167" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364824" "00363596" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364841" "00363613" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364864" "00363636" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364897" "00363669" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364957" "00363729" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364958" "00363730" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373744" "00372511" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000376155" "00374961" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376631" "00375434" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000379009" "00377805" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379194" "00377990" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379195" "00377991" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379197" "00377993" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379198" "00377994" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379199" "00377995" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379200" "00377996" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379201" "00377997" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379202" "00377998" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379203" "00377999" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379204" "00378000" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379205" "00378001" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379206" "00378002" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379207" "00378003" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379208" "00378004" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000381503" "00380289" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381504" "00380290" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381505" "00380291" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381506" "00380292" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381507" "00380293" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381508" "00380294" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381509" "00380295" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000382792" "00381576" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382793" "00381577" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382794" "00381578" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382795" "00381579" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382796" "00381580" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382797" "00381581" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382798" "00381582" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382799" "00381583" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382800" "00381584" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382801" "00381585" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382802" "00381586" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382803" "00381587" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382804" "00381588" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382805" "00381589" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382806" "00381590" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382807" "00381591" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382808" "00381592" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000382809" "00381593" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ" "DNA" "blood" "" "0000383772" "00382558" "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" "0000383773" "00382559" "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" "0000384019" "00382803" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384660" "00383435" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384661" "00383436" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384662" "00383437" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384663" "00383438" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384664" "00383439" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384665" "00383440" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384666" "00383441" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384667" "00383442" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000385367" "00384142" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385655" "00384430" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386342" "00385113" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing" "0000387400" "00386171" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387416" "00386187" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387422" "00386193" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000390920" "00389677" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390982" "00389739" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390984" "00389741" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390993" "00389750" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391534" "00390293" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392069" "00390828" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "?" "DNA" "" "" "0000392098" "00390857" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392169" "00390928" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392415" "00391173" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392609" "00391367" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392800" "00391558" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392801" "00391559" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000394938" "00393690" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000397002" "00395763" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397699" "00396459" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408606" "00407358" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416450" "00415169" "1" "00000" "03840" "2022-08-09 11:23:44" "" "" "SEQ" "DNA" "blood" "" "0000416451" "00415170" "1" "00000" "03840" "2022-08-09 11:23:44" "" "" "SEQ" "DNA" "blood" "" "0000417100" "00415819" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417101" "00415820" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417102" "00415821" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417103" "00415822" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417104" "00415823" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417105" "00415824" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417106" "00415825" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417107" "00415826" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417108" "00415827" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417109" "00415828" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417110" "00415829" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417111" "00415830" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417112" "00415831" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417113" "00415832" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417114" "00415833" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417115" "00415834" "1" "00000" "03840" "2022-08-17 09:35:59" "" "" "SEQ" "DNA" "blood" "" "0000417159" "00415878" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417160" "00415879" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417161" "00415880" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417162" "00415881" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417163" "00415882" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417164" "00415883" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417165" "00415884" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417166" "00415885" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417167" "00415886" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417168" "00415887" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417169" "00415888" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417170" "00415889" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417171" "00415890" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417172" "00415891" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417173" "00415892" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417174" "00415893" "1" "00000" "03840" "2022-08-17 13:43:52" "" "" "SEQ" "DNA" "blood" "" "0000417175" "00415894" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417176" "00415895" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417177" "00415896" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417178" "00415897" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417179" "00415898" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417180" "00415899" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417181" "00415900" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417182" "00415901" "1" "00000" "03840" "2022-08-17 13:46:03" "" "" "STR;arraySNP;SEQ" "DNA" "blood" "" "0000417183" "00415902" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417184" "00415903" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417185" "00415904" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417186" "00415905" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417187" "00415906" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417188" "00415907" "1" "00000" "03840" "2022-08-17 14:53:38" "" "" "SEQ" "DNA" "blood" "" "0000417190" "00415909" "1" "00000" "03840" "2022-08-17 21:52:02" "" "" "SEQ" "DNA" "blood" "" "0000417191" "00415910" "1" "00000" "03840" "2022-08-17 21:52:02" "" "" "SEQ" "DNA" "blood" "" "0000417192" "00415911" "1" "00000" "03840" "2022-08-17 21:52:02" "" "" "SEQ" "DNA" "blood" "" "0000417193" "00415912" "1" "00000" "03840" "2022-08-17 21:52:02" "" "" "SEQ" "DNA" "blood" "" "0000417194" "00415913" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417195" "00415914" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417196" "00415915" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417197" "00415916" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417198" "00415917" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417199" "00415918" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417200" "00415919" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417201" "00415920" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417202" "00415921" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417203" "00415922" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417204" "00415923" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417205" "00415924" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417206" "00415925" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417207" "00415926" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417208" "00415927" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417209" "00415928" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417210" "00415929" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417211" "00415930" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417212" "00415931" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417213" "00415932" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417214" "00415933" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000417217" "00415937" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417218" "00415938" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417219" "00415939" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417220" "00415940" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417221" "00415941" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417222" "00415942" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417223" "00415943" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417224" "00415944" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417225" "00415945" "1" "00000" "03840" "2022-08-19 09:17:45" "" "" "SEQ" "DNA" "blood" "" "0000417226" "00415946" "1" "00000" "03840" "2022-08-19 10:13:30" "" "" "SEQ" "DNA" "blood" "" "0000417227" "00415947" "1" "00000" "03840" "2022-08-19 10:13:30" "" "" "SEQ" "DNA" "blood" "" "0000417228" "00415948" "1" "00000" "03840" "2022-08-19 10:13:30" "" "" "SEQ" "DNA" "blood" "" "0000417231" "00415951" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417232" "00415952" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417233" "00415953" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417234" "00415954" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417235" "00415955" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417236" "00415956" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417237" "00415957" "1" "00000" "03840" "2022-08-19 11:36:23" "" "" "SEQ" "DNA" "blood" "" "0000417238" "00415958" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417239" "00415959" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417240" "00415960" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417241" "00415961" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417242" "00415962" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417243" "00415963" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417244" "00415964" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417245" "00415965" "1" "00000" "03840" "2022-08-19 13:02:14" "" "" "SEQ" "DNA" "blood" "" "0000417260" "00415981" "1" "00000" "03840" "2022-08-19 14:22:53" "" "" "SEQ" "DNA" "blood" "" "0000417261" "00415982" "1" "00000" "03840" "2022-08-19 14:22:53" "" "" "SEQ" "DNA" "blood" "" "0000417262" "00415983" "1" "00000" "03840" "2022-08-19 14:22:53" "" "" "SEQ" "DNA" "blood" "" "0000417263" "00415984" "1" "00000" "03840" "2022-08-19 14:22:53" "" "" "SEQ" "DNA" "blood" "" "0000417264" "00415985" "1" "00000" "03840" "2022-08-19 14:53:27" "" "" "SEQ" "DNA" "blood" "" "0000417278" "00415998" "1" "00000" "03840" "2022-08-19 19:18:29" "" "" "arrayCGH;TaqMan;PCR;SEQ" "DNA" "blood" "" "0000417283" "00416003" "1" "00000" "03840" "2022-08-20 18:32:54" "" "" "?" "DNA" "blood" "retrospective study" "0000417284" "00416004" "1" "00000" "03840" "2022-08-20 18:32:54" "" "" "?" "DNA" "blood" "retrospective study" "0000417285" "00416005" "1" "00000" "03840" "2022-08-20 18:32:54" "" "" "?" "DNA" "blood" "retrospective study" "0000417286" "00416006" "1" "00000" "03840" "2022-08-20 18:32:54" "" "" "?" "DNA" "blood" "retrospective study" "0000417287" "00416007" "1" "00000" "03840" "2022-08-20 18:32:54" "" "" "?" "DNA" "blood" "retrospective study" "0000417288" "00416008" "1" "00000" "03840" "2022-08-20 19:07:50" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000417289" "00416009" "1" "00000" "03840" "2022-08-20 20:22:47" "" "" "SEQ" "DNA" "blood" "whole-exome sequencing" "0000421749" "00420440" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000423298" "00421987" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423299" "00421988" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423300" "00421989" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423301" "00421990" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423302" "00421991" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423303" "00421992" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423304" "00421993" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423305" "00421994" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423306" "00421995" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423307" "00421996" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423308" "00421997" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423309" "00421998" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423310" "00421999" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423311" "00422000" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423312" "00422001" "1" "00000" "03840" "2022-11-08 20:39:13" "" "" "SEQ" "DNA" "blood" "gene panel testing and exome sequencing" "0000423533" "00422222" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ;PCRq" "DNA" "" "" "0000423534" "00422223" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ;PCRq" "DNA" "" "" "0000423535" "00422224" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ;PCRq" "DNA" "" "" "0000423536" "00422225" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ;PCRq" "DNA" "" "" "0000423537" "00422226" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ" "DNA" "" "" "0000423538" "00422227" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ" "DNA" "" "" "0000423539" "00422228" "1" "00000" "03840" "2022-11-09 10:01:15" "" "" "SEQ" "DNA" "" "" "0000423540" "00422229" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423541" "00422230" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423542" "00422231" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423543" "00422232" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423544" "00422233" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423545" "00422234" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423546" "00422235" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423547" "00422236" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423548" "00422237" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423549" "00422238" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423550" "00422239" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423551" "00422240" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423552" "00422241" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423553" "00422242" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423554" "00422243" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423555" "00422244" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423556" "00422245" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423557" "00422246" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423558" "00422247" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423559" "00422248" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423560" "00422249" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423561" "00422250" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423562" "00422251" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423563" "00422252" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423564" "00422253" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423565" "00422254" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423566" "00422255" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423567" "00422256" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423568" "00422257" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423569" "00422258" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423570" "00422259" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423571" "00422260" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423572" "00422261" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423573" "00422262" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423574" "00422263" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423575" "00422264" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423576" "00422265" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423577" "00422266" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423578" "00422267" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423579" "00422268" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423580" "00422269" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423581" "00422270" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423582" "00422271" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423583" "00422272" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423584" "00422273" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423585" "00422274" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423586" "00422275" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423587" "00422276" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423588" "00422277" "1" "00000" "03840" "2022-11-09 12:07:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "multiple centers, various techniques" "0000423589" "00422278" "1" "00000" "03840" "2022-11-09 12:59:28" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000423590" "00422279" "1" "00000" "03840" "2022-11-09 13:43:55" "" "" "SEQ" "DNA" "" "" "0000423591" "00422280" "1" "00000" "03840" "2022-11-09 13:43:55" "" "" "SEQ" "DNA" "" "" "0000423592" "00422281" "1" "00000" "03840" "2022-11-09 13:43:55" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000423593" "00422282" "1" "00000" "03840" "2022-11-09 13:43:55" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000423594" "00422283" "1" "00000" "03840" "2022-11-09 13:43:55" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000428230" "00426910" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428233" "00426913" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428236" "00426916" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000448628" "00447051" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448637" "00447060" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448774" "00447197" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449099" "00447522" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449104" "00447527" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449105" "00447528" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452467" "00450869" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452468" "00450870" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452469" "00450871" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452470" "00450872" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452471" "00450873" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452472" "00450874" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452473" "00450875" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452474" "00450876" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452475" "00450877" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452476" "00450878" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452636" "00451037" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452815" "00451216" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 301 "{{screeningid}}" "{{geneid}}" "0000144774" "EYS" "0000156349" "KCNV2" "0000156350" "KCNV2" "0000156351" "KCNV2" "0000156352" "KCNV2" "0000156353" "KCNV2" "0000156354" "KCNV2" "0000309757" "KCNV2" "0000309869" "KCNV2" "0000310348" "KCNV2" "0000310349" "KCNV2" "0000310350" "KCNV2" "0000310351" "KCNV2" "0000310352" "KCNV2" "0000310353" "KCNV2" "0000310354" "KCNV2" "0000310355" "KCNV2" "0000310985" "IDH3A" "0000326682" "KCNV2" "0000329319" "KCNV2" "0000329512" "KCNV2" "0000329674" "KCNV2" "0000335215" "KCNV2" "0000335216" "KCNV2" "0000335686" "KCNV2" "0000363376" "KCNV2" "0000363396" "KCNV2" "0000364824" "KCNV2" "0000364841" "KCNV2" "0000364864" "KCNV2" "0000364897" "KCNV2" "0000364957" "KCNV2" "0000364958" "KCNV2" "0000373744" "KCNV2" "0000379009" "KCNV2" "0000379194" "KCNV2" "0000379195" "KCNV2" "0000379197" "KCNV2" "0000379198" "KCNV2" "0000379199" "KCNV2" "0000379200" "KCNV2" "0000379201" "KCNV2" "0000379202" "KCNV2" "0000379203" "KCNV2" "0000379204" "KCNV2" "0000379205" "KCNV2" "0000379206" "KCNV2" "0000379207" "KCNV2" "0000379208" "KCNV2" "0000381503" "KCNV2" "0000381504" "KCNV2" "0000381505" "KCNV2" "0000381506" "KCNV2" "0000381507" "KCNV2" "0000381508" "KCNV2" "0000381509" "KCNV2" "0000382792" "KCNV2" "0000382793" "KCNV2" "0000382794" "KCNV2" "0000382795" "KCNV2" "0000382796" "KCNV2" "0000382797" "KCNV2" "0000382798" "KCNV2" "0000382799" "KCNV2" "0000382800" "KCNV2" "0000382801" "KCNV2" "0000382802" "KCNV2" "0000382803" "KCNV2" "0000382804" "KCNV2" "0000382805" "KCNV2" "0000382806" "KCNV2" "0000382807" "KCNV2" "0000382808" "KCNV2" "0000382809" "KCNV2" "0000383772" "KCNV2" "0000383773" "KCNV2" "0000384019" "BBS12" "0000384019" "KCNV2" "0000384660" "KCNV2" "0000384661" "KCNV2" "0000384662" "KCNV2" "0000384663" "KCNV2" "0000384664" "KCNV2" "0000384665" "KCNV2" "0000384666" "KCNV2" "0000384667" "KCNV2" "0000385367" "KCNV2" "0000385655" "KCNV2" "0000386342" "CDH3" "0000387400" "ABCA4" "0000387416" "ROM1" "0000387422" "PRPF3" "0000390920" "KCNV2" "0000390982" "KCNV2" "0000390984" "KCNV2" "0000390993" "KCNV2" "0000391534" "KCNV2" "0000392069" "KCNV2" "0000392098" "KCNV2" "0000392169" "KCNV2" "0000392415" "KCNV2" "0000392609" "KCNV2" "0000392800" "KCNV2" "0000392801" "KCNV2" "0000394938" "KCNV2" "0000397002" "KCNV2" "0000408606" "INADL" "0000416450" "MFRP" "0000416451" "KCNV2" "0000417100" "KCNV2" "0000417101" "KCNV2" "0000417102" "KCNV2" "0000417103" "KCNV2" "0000417104" "KCNV2" "0000417105" "KCNV2" "0000417106" "KCNV2" "0000417107" "KCNV2" "0000417108" "KCNV2" "0000417109" "KCNV2" "0000417110" "KCNV2" "0000417111" "KCNV2" "0000417112" "KCNV2" "0000417113" "KCNV2" "0000417114" "KCNV2" "0000417115" "KCNV2" "0000417159" "KCNV2" "0000417160" "KCNV2" "0000417161" "KCNV2" "0000417162" "KCNV2" "0000417163" "KCNV2" "0000417164" "KCNV2" "0000417165" "KCNV2" "0000417166" "KCNV2" "0000417167" "KCNV2" "0000417168" "KCNV2" "0000417169" "KCNV2" "0000417170" "KCNV2" "0000417171" "KCNV2" "0000417172" "KCNV2" "0000417173" "KCNV2" "0000417174" "KCNV2" "0000417175" "KCNV2" "0000417176" "KCNV2" "0000417177" "KCNV2" "0000417178" "KCNV2" "0000417179" "KCNV2" "0000417180" "KCNV2" "0000417181" "KCNV2" "0000417182" "KCNV2" "0000417183" "KCNV2" "0000417184" "KCNV2" "0000417185" "KCNV2" "0000417186" "KCNV2" "0000417187" "KCNV2" "0000417188" "KCNV2" "0000417190" "KCNV2" "0000417191" "KCNV2" "0000417192" "KCNV2" "0000417193" "KCNV2" "0000417194" "KCNV2" "0000417195" "KCNV2" "0000417196" "KCNV2" "0000417197" "KCNV2" "0000417198" "KCNV2" "0000417199" "KCNV2" "0000417200" "KCNV2" "0000417201" "KCNV2" "0000417202" "KCNV2" "0000417203" "KCNV2" "0000417204" "KCNV2" "0000417205" "KCNV2" "0000417206" "KCNV2" "0000417207" "KCNV2" "0000417208" "KCNV2" "0000417209" "KCNV2" "0000417210" "KCNV2" "0000417211" "KCNV2" "0000417212" "KCNV2" "0000417213" "KCNV2" "0000417214" "KCNV2" "0000417217" "KCNV2" "0000417218" "KCNV2" "0000417219" "KCNV2" "0000417220" "KCNV2" "0000417221" "KCNV2" "0000417222" "KCNV2" "0000417223" "KCNV2" "0000417224" "KCNV2" "0000417225" "KCNV2" "0000417226" "KCNV2" "0000417227" "KCNV2" "0000417228" "KCNV2" "0000417231" "KCNV2" "0000417232" "KCNV2" "0000417233" "KCNV2" "0000417234" "KCNV2" "0000417235" "KCNV2" "0000417236" "KCNV2" "0000417237" "KCNV2" "0000417238" "KCNV2" "0000417239" "KCNV2" "0000417240" "KCNV2" "0000417241" "KCNV2" "0000417242" "KCNV2" "0000417243" "KCNV2" "0000417244" "KCNV2" "0000417245" "KCNV2" "0000417260" "KCNV2" "0000417261" "KCNV2" "0000417262" "KCNV2" "0000417263" "KCNV2" "0000417264" "KCNV2" "0000417278" "KCNV2" "0000417283" "KCNV2" "0000417284" "KCNV2" "0000417285" "KCNV2" "0000417286" "KCNV2" "0000417287" "KCNV2" "0000417288" "KCNV2" "0000417289" "KCNV2" "0000421749" "KCNV2" "0000423298" "KCNV2" "0000423299" "KCNV2" "0000423300" "KCNV2" "0000423301" "KCNV2" "0000423302" "KCNV2" "0000423303" "KCNV2" "0000423304" "KCNV2" "0000423305" "KCNV2" "0000423306" "KCNV2" "0000423307" "KCNV2" "0000423308" "KCNV2" "0000423309" "KCNV2" "0000423310" "KCNV2" "0000423311" "KCNV2" "0000423312" "KCNV2" "0000423533" "KCNV2" "0000423534" "KCNV2" "0000423535" "KCNV2" "0000423536" "KCNV2" "0000423537" "KCNV2" "0000423538" "KCNV2" "0000423539" "KCNV2" "0000423540" "KCNV2" "0000423541" "KCNV2" "0000423542" "KCNV2" "0000423543" "KCNV2" "0000423544" "KCNV2" "0000423545" "KCNV2" "0000423546" "KCNV2" "0000423547" "KCNV2" "0000423548" "KCNV2" "0000423549" "KCNV2" "0000423550" "KCNV2" "0000423551" "KCNV2" "0000423552" "KCNV2" "0000423553" "KCNV2" "0000423554" "KCNV2" "0000423555" "KCNV2" "0000423556" "KCNV2" "0000423557" "KCNV2" "0000423558" "KCNV2" "0000423559" "KCNV2" "0000423560" "KCNV2" "0000423561" "KCNV2" "0000423562" "KCNV2" "0000423563" "KCNV2" "0000423564" "KCNV2" "0000423565" "KCNV2" "0000423566" "KCNV2" "0000423567" "KCNV2" "0000423568" "KCNV2" "0000423569" "KCNV2" "0000423570" "KCNV2" "0000423571" "KCNV2" "0000423572" "KCNV2" "0000423573" "KCNV2" "0000423574" "KCNV2" "0000423575" "KCNV2" "0000423576" "KCNV2" "0000423577" "KCNV2" "0000423578" "KCNV2" "0000423579" "KCNV2" "0000423580" "KCNV2" "0000423581" "KCNV2" "0000423582" "KCNV2" "0000423583" "KCNV2" "0000423584" "KCNV2" "0000423585" "KCNV2" "0000423586" "KCNV2" "0000423587" "KCNV2" "0000423588" "KCNV2" "0000423589" "KCNV2" "0000423590" "KCNV2" "0000423591" "KCNV2" "0000423592" "KCNV2" "0000423593" "KCNV2" "0000423594" "KCNV2" "0000428230" "KCNV2" "0000428233" "KCNV2" "0000428236" "NYX" ## 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 = 532 "{{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}}" "0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" "" "0000254911" "0" "30" "9" "2718822" "2718822" "subst" "0.00840031" "01943" "KCNV2_000047" "g.2718822A>G" "" "" "" "KCNV2(NM_133497.3):c.1083A>G (p.Q361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718822A>G" "" "likely benign" "" "0000255934" "0" "50" "9" "2717960" "2717960" "subst" "0" "01943" "KCNV2_000056" "g.2717960A>G" "" "" "" "KCNV2(NM_133497.3):c.221A>G (p.E74G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717960A>G" "" "VUS" "" "0000278448" "0" "10" "9" "2717725" "2717725" "subst" "0.000739879" "02330" "KCNV2_000051" "g.2717725C>T" "" "" "" "KCNV2(NM_133497.4):c.-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717725C>T" "" "benign" "" "0000278449" "0" "10" "9" "2718765" "2718765" "subst" "0.000584309" "02330" "KCNV2_000067" "g.2718765C>T" "" "" "" "KCNV2(NM_133497.4):c.1026C>T (p.A342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718765C>T" "" "benign" "" "0000278450" "0" "50" "9" "2718901" "2718901" "subst" "7.01754E-5" "02330" "KCNV2_000070" "g.2718901C>G" "" "" "" "KCNV2(NM_133497.3):c.1162C>G (p.L388V), KCNV2(NM_133497.4):c.1162C>G (p.L388V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718901C>G" "" "VUS" "" "0000278451" "0" "10" "9" "2719047" "2719047" "subst" "0.000607683" "02330" "KCNV2_000071" "g.2719047G>A" "" "" "" "KCNV2(NM_133497.4):c.1308G>A (p.V436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2719047G>A" "" "benign" "" "0000278452" "0" "90" "9" "2719098" "2719101" "del" "0" "02330" "KCNV2_000021" "g.2719098_2719101del" "" "" "" "KCNV2(NM_133497.4):c.1356+3_1356+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2719098_2719101del" "" "pathogenic" "" "0000278453" "0" "10" "9" "2717907" "2717907" "subst" "0.000385834" "02330" "KCNV2_000054" "g.2717907G>A" "" "" "" "KCNV2(NM_133497.4):c.168G>A (p.E56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717907G>A" "" "benign" "" "0000278454" "0" "10" "9" "2718192" "2718192" "subst" "1.2377E-5" "02330" "KCNV2_000060" "g.2718192C>T" "" "" "" "KCNV2(NM_133497.4):c.453C>T (p.F151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718192C>T" "" "benign" "" "0000278455" "0" "50" "9" "2718356" "2718356" "subst" "1.42082E-5" "02330" "KCNV2_000061" "g.2718356G>A" "" "" "" "KCNV2(NM_133497.4):c.617G>A (p.R206Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718356G>A" "" "VUS" "" "0000278456" "0" "10" "9" "2718415" "2718415" "subst" "0.00164052" "02330" "KCNV2_000062" "g.2718415G>A" "" "" "" "KCNV2(NM_133497.3):c.676G>A (p.V226I), KCNV2(NM_133497.4):c.676G>A (p.V226I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718415G>A" "" "benign" "" "0000278457" "0" "10" "9" "2718567" "2718567" "subst" "0.000684012" "02330" "KCNV2_000063" "g.2718567G>A" "" "" "" "KCNV2(NM_133497.3):c.828G>A (p.A276=), KCNV2(NM_133497.4):c.828G>A (p.A276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718567G>A" "" "benign" "" "0000278458" "0" "30" "9" "2718593" "2718593" "subst" "0.00152119" "02330" "KCNV2_000064" "g.2718593T>G" "" "" "" "KCNV2(NM_133497.3):c.854T>G (p.M285R), KCNV2(NM_133497.4):c.854T>G (p.M285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718593T>G" "" "likely benign" "" "0000290113" "0" "50" "9" "2718757" "2718757" "subst" "0" "01943" "KCNV2_000066" "g.2718757C>G" "" "" "" "KCNV2(NM_133497.3):c.1018C>G (p.L340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718757C>G" "" "VUS" "" "0000290114" "0" "30" "9" "2718789" "2718789" "subst" "8.22788E-6" "01943" "KCNV2_000068" "g.2718789G>A" "" "" "" "KCNV2(NM_133497.3):c.1050G>A (p.L350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718789G>A" "" "likely benign" "" "0000290115" "0" "30" "9" "2717869" "2717869" "subst" "2.43679E-5" "01943" "KCNV2_000053" "g.2717869C>T" "" "" "" "KCNV2(NM_133497.3):c.130C>T (p.H44Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717869C>T" "" "likely benign" "" "0000290116" "0" "30" "9" "2729699" "2729699" "subst" "2.03234E-5" "01943" "KCNV2_000022" "g.2729699C>T" "" "" "" "KCNV2(NM_133497.3):c.1610C>T (p.P537L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2729699C>T" "" "likely benign" "" "0000290117" "0" "30" "9" "2717946" "2717946" "subst" "0.000284419" "01943" "KCNV2_000055" "g.2717946C>T" "" "" "" "KCNV2(NM_133497.3):c.207C>T (p.D69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717946C>T" "" "likely benign" "" "0000290118" "0" "30" "9" "2718030" "2718030" "subst" "0.000484816" "01943" "KCNV2_000057" "g.2718030C>T" "" "" "" "KCNV2(NM_133497.3):c.291C>T (p.S97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718030C>T" "" "likely benign" "" "0000290119" "0" "30" "9" "2718051" "2718051" "subst" "0.00121607" "01943" "KCNV2_000058" "g.2718051T>C" "" "" "" "KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718051T>C" "" "likely benign" "" "0000290120" "0" "90" "9" "2718078" "2718078" "subst" "4.65714E-6" "01943" "KCNV2_000059" "g.2718078C>A" "" "" "" "KCNV2(NM_133497.3):c.339C>A (p.C113*), KCNV2(NM_133497.4):c.339C>A (p.C113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718078C>A" "" "pathogenic" "" "0000290121" "0" "50" "9" "2717815" "2717815" "subst" "0" "01943" "KCNV2_000052" "g.2717815C>T" "" "" "" "KCNV2(NM_133497.3):c.76C>T (p.H26Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717815C>T" "" "VUS" "" "0000290122" "0" "30" "9" "2718593" "2718593" "subst" "0.00152119" "01943" "KCNV2_000065" "g.2718593T>G" "" "" "" "KCNV2(NM_133497.3):c.854T>G (p.M285R), KCNV2(NM_133497.4):c.854T>G (p.M285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718593T>G" "" "likely benign" "" "0000337647" "0" "10" "9" "2717676" "2717676" "subst" "0" "02327" "KCNV2_000023" "g.2717676T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717676T>G" "" "benign" "" "0000337648" "0" "10" "9" "2717698" "2717698" "subst" "0.617981" "02327" "KCNV2_000024" "g.2717698C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717698C>G" "" "benign" "" "0000337649" "0" "10" "9" "2729733" "2729733" "subst" "0.0844065" "02327" "KCNV2_000040" "g.2729733T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2729733T>C" "" "benign" "" "0000339786" "0" "10" "9" "2717922" "2717922" "subst" "0.617407" "02327" "KCNV2_000027" "g.2717922C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717922C>G" "" "benign" "" "0000339787" "0" "10" "9" "2718498" "2718498" "subst" "0.101923" "02327" "KCNV2_000033" "g.2718498A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718498A>G" "" "benign" "" "0000339788" "0" "10" "9" "2718534" "2718534" "subst" "0.483517" "02327" "KCNV2_000034" "g.2718534C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718534C>G" "" "benign" "" "0000339789" "0" "10" "9" "2718654" "2718654" "subst" "0.0352711" "02327" "KCNV2_000036" "g.2718654G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718654G>A" "" "benign" "" "0000339790" "0" "10" "9" "2729475" "2729475" "subst" "0.0750161" "02327" "KCNV2_000038" "g.2729475C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2729475C>T" "" "benign" "" "0000345134" "0" "90" "9" "2718166" "2718166" "subst" "0" "02327" "KCNV2_000029" "g.2718166G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718166G>T" "" "pathogenic" "" "0000345143" "0" "90" "9" "2718181" "2718181" "subst" "1.23701E-5" "02327" "KCNV2_000006" "g.2718181G>T" "" "" "" "KCNV2(NM_133497.3):c.442G>T (p.E148*), KCNV2(NM_133497.4):c.442G>T (p.E148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718181G>T" "" "pathogenic" "" "0000345260" "0" "50" "9" "2718419" "2718419" "subst" "0" "02327" "KCNV2_000032" "g.2718419A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718419A>T" "" "VUS" "" "0000345323" "0" "10" "9" "2718588" "2718588" "subst" "0.00746763" "02327" "KCNV2_000035" "g.2718588G>A" "" "" "" "KCNV2(NM_133497.3):c.849G>A (p.E283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718588G>A" "" "benign" "" "0000346089" "0" "90" "9" "2729470" "2729470" "subst" "0.000130025" "02327" "KCNV2_000005" "g.2729470G>A" "" "" "" "KCNV2(NM_133497.3):c.1381G>A (p.G461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000347213" "0" "10" "9" "2729686" "2729686" "subst" "0.0955925" "02327" "KCNV2_000039" "g.2729686C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2729686C>G" "" "benign" "" "0000349725" "0" "50" "9" "2718301" "2718301" "subst" "0" "02327" "KCNV2_000031" "g.2718301T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718301T>C" "" "VUS" "" "0000349880" "0" "90" "9" "2718062" "2718068" "del" "0" "02327" "KCNV2_000010" "g.2718062_2718068del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2718062_2718068del" "" "pathogenic" "" "0000350132" "0" "90" "9" "2717901" "2717901" "subst" "0" "02327" "KCNV2_000026" "g.2717901C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2717901C>A" "" "pathogenic" "" "0000358271" "3" "90" "9" "2718150" "2718153" "del" "0" "01243" "KCNV2_000041" "g.2718150_2718153del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.2718150_2718153del" "" "pathogenic" "" "0000358272" "3" "70" "9" "2718194" "2718194" "subst" "0" "01243" "KCNV2_000042" "g.2718194A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.2718194A>G" "" "likely pathogenic" "" "0000358273" "0" "90" "9" "2718728" "2718729" "dup" "0" "01243" "KCNV2_000046" "g.2718728_2718729dup" "" "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" "" "0000358274" "3" "70" "9" "2718521" "2718521" "subst" "0" "01243" "KCNV2_000013" "g.2718521C>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.2718521C>A" "" "likely pathogenic" "" "0000358275" "21" "70" "9" "2718697" "2718697" "subst" "2.45182E-5" "01243" "KCNV2_000045" "g.2718697C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.2718697C>T" "" "likely pathogenic" "" "0000358276" "3" "90" "9" "2718728" "2718729" "dup" "0" "01243" "KCNV2_000046" "g.2718728_2718729dup" "" "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" "" "0000358443" "0" "90" "9" "2718497" "2718497" "del" "0" "01243" "KCNV2_000043" "g.2718497del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.2718497del" "" "pathogenic" "" "0000358444" "11" "90" "9" "2718728" "2718729" "dup" "0" "01243" "KCNV2_000046" "g.2718728_2718729dup" "" "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" "" "0000537862" "0" "10" "9" "2717819" "2717819" "subst" "0.00128353" "02330" "KCNV2_000072" "g.2717819G>A" "" "" "" "KCNV2(NM_133497.4):c.80G>A (p.R27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717819G>A" "" "benign" "" "0000537863" "0" "10" "9" "2717871" "2717871" "subst" "4.06141E-6" "02330" "KCNV2_000073" "g.2717871C>T" "" "" "" "KCNV2(NM_133497.4):c.132C>T (p.H44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717871C>T" "" "benign" "" "0000537864" "0" "50" "9" "2717881" "2717881" "subst" "0" "02330" "KCNV2_000074" "g.2717881G>A" "" "" "" "KCNV2(NM_133497.4):c.142G>A (p.E48K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717881G>A" "" "VUS" "" "0000537865" "0" "50" "9" "2717932" "2717932" "subst" "8.12328E-6" "01943" "KCNV2_000075" "g.2717932G>A" "" "" "" "KCNV2(NM_133497.3):c.193G>A (p.D65N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717932G>A" "" "VUS" "" "0000537866" "0" "10" "9" "2717988" "2717988" "subst" "0" "02330" "KCNV2_000076" "g.2717988C>T" "" "" "" "KCNV2(NM_133497.4):c.249C>T (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717988C>T" "" "benign" "" "0000537867" "0" "30" "9" "2718067" "2718067" "subst" "6.25458E-5" "01943" "KCNV2_000077" "g.2718067C>T" "" "" "" "KCNV2(NM_133497.3):c.328C>T (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718067C>T" "" "likely benign" "" "0000537868" "0" "10" "9" "2718075" "2718075" "subst" "4.55884E-6" "02330" "KCNV2_000078" "g.2718075C>T" "" "" "" "KCNV2(NM_133497.4):c.336C>T (p.Y112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718075C>T" "" "benign" "" "0000537869" "0" "90" "9" "2718181" "2718181" "subst" "1.23701E-5" "01943" "KCNV2_000006" "g.2718181G>T" "" "" "" "KCNV2(NM_133497.3):c.442G>T (p.E148*), KCNV2(NM_133497.4):c.442G>T (p.E148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718181G>T" "" "pathogenic" "" "0000537870" "0" "50" "9" "2718340" "2718340" "subst" "9.09107E-6" "01943" "KCNV2_000079" "g.2718340A>G" "" "" "" "KCNV2(NM_133497.3):c.601A>G (p.I201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718340A>G" "" "VUS" "" "0000537871" "0" "10" "9" "2718351" "2718351" "subst" "0.00353311" "02330" "KCNV2_000080" "g.2718351G>A" "" "" "" "KCNV2(NM_133497.4):c.612G>A (p.E204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718351G>A" "" "benign" "" "0000537872" "0" "50" "9" "2718384" "2718384" "subst" "0.000458222" "02330" "KCNV2_000081" "g.2718384G>C" "" "" "" "KCNV2(NM_133497.3):c.645G>C (p.K215N), KCNV2(NM_133497.4):c.645G>C (p.K215N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718384G>C" "" "VUS" "" "0000537873" "0" "10" "9" "2718415" "2718415" "subst" "0.00164052" "01943" "KCNV2_000062" "g.2718415G>A" "" "" "" "KCNV2(NM_133497.3):c.676G>A (p.V226I), KCNV2(NM_133497.4):c.676G>A (p.V226I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718415G>A" "" "benign" "" "0000537874" "0" "50" "9" "2718497" "2718497" "subst" "1.28929E-5" "02327" "KCNV2_000082" "g.2718497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718497C>T" "" "VUS" "" "0000537875" "0" "30" "9" "2718567" "2718567" "subst" "0.000684012" "01943" "KCNV2_000063" "g.2718567G>A" "" "" "" "KCNV2(NM_133497.3):c.828G>A (p.A276=), KCNV2(NM_133497.4):c.828G>A (p.A276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718567G>A" "" "likely benign" "" "0000537876" "0" "30" "9" "2718588" "2718588" "subst" "0.00746763" "01943" "KCNV2_000035" "g.2718588G>A" "" "" "" "KCNV2(NM_133497.3):c.849G>A (p.E283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718588G>A" "" "likely benign" "" "0000537877" "0" "10" "9" "2718659" "2718659" "subst" "0.00112398" "02330" "KCNV2_000083" "g.2718659T>G" "" "" "" "KCNV2(NM_133497.3):c.920T>G (p.M307R), KCNV2(NM_133497.4):c.920T>G (p.M307R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718659T>G" "" "benign" "" "0000537878" "0" "50" "9" "2718659" "2718659" "subst" "0.00112398" "01943" "KCNV2_000083" "g.2718659T>G" "" "" "" "KCNV2(NM_133497.3):c.920T>G (p.M307R), KCNV2(NM_133497.4):c.920T>G (p.M307R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718659T>G" "" "VUS" "" "0000537879" "0" "70" "9" "2718862" "2718862" "subst" "0.00045016" "01943" "KCNV2_000084" "g.2718862G>A" "" "" "" "KCNV2(NM_133497.3):c.1123G>A (p.V375M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718862G>A" "" "likely pathogenic" "" "0000537880" "0" "90" "9" "2718867" "2718867" "dup" "0" "02329" "KCNV2_000085" "g.2718867dup" "" "" "" "KCNV2(NM_133497.4):c.1128dupG (p.R377Afs*122)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718867dup" "" "pathogenic" "" "0000537881" "0" "50" "9" "2718884" "2718884" "subst" "8.2545E-6" "02327" "KCNV2_000086" "g.2718884T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2718884T>C" "" "VUS" "" "0000537882" "0" "10" "9" "2719038" "2719038" "subst" "3.69007E-5" "02330" "KCNV2_000087" "g.2719038G>A" "" "" "" "KCNV2(NM_133497.4):c.1299G>A (p.E433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2719038G>A" "" "benign" "" "0000537883" "0" "90" "9" "2719088" "2719088" "subst" "0" "02330" "KCNV2_000088" "g.2719088G>A" "" "" "" "KCNV2(NM_133497.4):c.1349G>A (p.W450*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2719088G>A" "" "pathogenic" "" "0000537884" "0" "10" "9" "2719110" "2719110" "subst" "0.000219617" "02330" "KCNV2_000089" "g.2719110C>T" "" "" "" "KCNV2(NM_133497.4):c.1356+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2719110C>T" "" "benign" "" "0000537889" "0" "90" "9" "2729470" "2729470" "subst" "0.000130025" "01943" "KCNV2_000005" "g.2729470G>A" "" "" "" "KCNV2(NM_133497.3):c.1381G>A (p.G461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2729470G>A" "" "pathogenic" "" "0000537890" "0" "50" "9" "2729569" "2729569" "subst" "0.000280333" "02330" "KCNV2_000090" "g.2729569A>C" "" "" "" "KCNV2(NM_133497.4):c.1480A>C (p.N494H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2729569A>C" "" "VUS" "" "0000622249" "0" "30" "9" "2717997" "2717997" "subst" "0.000126482" "02330" "KCNV2_000091" "g.2717997C>G" "" "" "" "KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2717997C>G" "" "likely benign" "" "0000652695" "1" "10" "9" "2718384" "2718384" "subst" "0.000458222" "03575" "KCNV2_000081" "g.2718384G>C" "1/2780 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201327014}" "Germline" "" "rs201327014" "0" "" "" "g.2718384G>C" "" "benign" "" "0000652696" "1" "10" "9" "2718588" "2718588" "subst" "0.00746763" "03575" "KCNV2_000035" "g.2718588G>A" "16/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs17656693}" "Germline" "" "rs17656693" "0" "" "" "g.2718588G>A" "" "benign" "" "0000652697" "1" "30" "9" "2718654" "2718654" "subst" "0.0352711" "03575" "KCNV2_000036" "g.2718654G>A" "63/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "63 heterozygous; {DB:CLININrs7859993}" "Germline" "" "rs7859993" "0" "" "" "g.2718654G>A" "" "likely benign" "" "0000670064" "3" "30" "9" "2718654" "2718654" "subst" "0.0352711" "03575" "KCNV2_000036" "g.2718654G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs7859993}" "Germline" "" "rs7859993" "0" "" "" "g.2718654G>A" "" "likely benign" "" "0000678654" "0" "50" "9" "2718901" "2718901" "subst" "7.01754E-5" "01943" "KCNV2_000070" "g.2718901C>G" "" "" "" "KCNV2(NM_133497.3):c.1162C>G (p.L388V), KCNV2(NM_133497.4):c.1162C>G (p.L388V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684630" "3" "70" "9" "2729461" "2729461" "subst" "1.21936E-5" "00004" "KCNV2_000093" "g.2729461G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.2729461G>A" "" "likely pathogenic (recessive)" "" "0000684771" "0" "30" "9" "2717819" "2717819" "subst" "0.00128353" "00004" "KCNV2_000072" "g.2717819G>A" "frequency 0.022" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.2717819G>A" "" "likely benign" "" "0000685259" "0" "90" "9" "2718149" "2718152" "del" "0" "00004" "KCNV2_000041" "g.2718149_2718152del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.410_413delGCCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685260" "0" "70" "9" "2718194" "2718194" "subst" "0" "00004" "KCNV2_000042" "g.2718194A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685261" "0" "90" "9" "2718464" "2718469" "del" "0" "00004" "KCNV2_000092" "g.2718464_2718469del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.725_730delAGCGGC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685262" "0" "90" "9" "2718497" "2718497" "del" "0" "00004" "KCNV2_000043" "g.2718497del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.758delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685263" "0" "70" "9" "2718521" "2718521" "subst" "0" "00004" "KCNV2_000013" "g.2718521C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685264" "0" "90" "9" "2718697" "2718697" "subst" "2.45182E-5" "00004" "KCNV2_000045" "g.2718697C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685265" "0" "90" "9" "2718735" "2718736" "ins" "0" "00004" "KCNV2_000046" "g.2718735_2718736insGC" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.996_997insGC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685266" "0" "70" "9" "2729530" "2729530" "subst" "0" "00004" "KCNV2_000094" "g.2729530G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686134" "3" "30" "9" "2718887" "2718887" "subst" "0" "00006" "KCNV2_000095" "g.2718887G>A" "" "{PMID:Sun 2018:30058936}" "" "1016C>G (R383H)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000710274" "1" "90" "9" "2717747" "2717750" "del" "0" "00006" "KCNV2_000002" "g.2717747_2717750del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "8_11delAACA" "" "Germline" "" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic" "" "0000713442" "0" "90" "9" "2717745" "2717748" "del" "4.06263E-5" "00000" "KCNV2_000098" "g.2717745_2717748del" "" "{PMID:Carss 2017:28041643}" "" "9:2717744TCAAA>T ENST00000382082.3:c.8_11delAACA (Lys3ArgfsTer96)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713635" "21" "90" "9" "2718030" "2718031" "ins" "0" "00000" "KCNV2_000097" "g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]" "" "{PMID:Carss 2017:28041643}" "" "chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG" "delins combined with duplication including delins" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]" "" "pathogenic (recessive)" "" "0000713776" "0" "90" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Carss 2017:28041643}" "" "9:2718301T>A ENST00000382082.3:c.562T>A (Trp188Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714031" "3" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000031" "g.2718301T>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.2718301T>C" "" "likely pathogenic (recessive)" "" "0000714109" "21" "90" "9" "2718030" "2718031" "ins" "0" "00006" "KCNV2_000097" "g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]" "" "{PMID:Carss 2017:28041643}" "" "chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG" "" "Germline" "" "" "0" "" "" "g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]" "" "pathogenic (recessive)" "" "0000722476" "0" "50" "9" "2718611" "2718611" "subst" "2.47276E-5" "01943" "KCNV2_000100" "g.2718611A>C" "" "" "" "KCNV2(NM_133497.3):c.872A>C (p.Q291P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733224" "3" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Stone 2017:28559085}" "" "1007_1013delACCTGGTGG" "" "Germline" "" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000733225" "3" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000734382" "1" "50" "9" "2718813" "2718813" "subst" "1.23552E-5" "00000" "KCNV2_000102" "g.2718813G>C" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.2718813G>C" "" "VUS" "" "0000734405" "2" "50" "9" "2718935" "2718935" "subst" "0.000160757" "00000" "KCNV2_000103" "g.2718935C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.2718935C>T" "" "VUS" "" "0000760368" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000763953" "3" "70" "9" "2729498" "2729498" "subst" "4.06217E-6" "00006" "KCNV2_000106" "g.2729498G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.2729498G>A" "" "likely pathogenic (recessive)" "" "0000764033" "1" "70" "9" "2718268" "2718268" "subst" "4.17537E-6" "00000" "KCNV2_000105" "g.2718268T>C" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "" "0" "" "" "g.2718268T>C" "" "likely pathogenic" "" "0000764036" "2" "70" "9" "2718193" "2718193" "subst" "4.12164E-6" "00000" "KCNV2_000104" "g.2718193G>A" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "" "0" "" "" "g.2718193G>A" "" "likely pathogenic" "" "0000765766" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000765783" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000765806" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000765839" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000765899" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000765900" "0" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000783893" "1" "50" "9" "2717998" "2718005" "dup" "0" "00000" "KCNV2_000107" "g.2717998_2718005dup" "" "{PMID:Wang 2015:26047050}" "" "254_255insGCCCGAGG" "" "Germline" "" "" "0" "" "" "g.2717998_2718005dup" "" "VUS" "" "0000783979" "2" "50" "9" "2729530" "2729530" "subst" "0" "00000" "KCNV2_000094" "g.2729530G>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.2729530G>C" "" "VUS" "" "0000787688" "3" "70" "9" "2719024" "2719027" "del" "0" "00000" "KCNV2_000108" "g.2719024_2719027del" "" "{PMID:Huang 2015:25356976}" "" "1284_1287delTGTC" "" "Germline" "yes" "" "0" "" "" "g.2719024_2719027del" "" "likely pathogenic" "" "0000788316" "0" "50" "9" "2718448" "2718448" "subst" "0" "00000" "KCNV2_000110" "g.2718448C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C709T" "" "Germline" "" "" "0" "" "" "g.2718448C>T" "" "VUS" "" "0000788433" "0" "50" "9" "2718241" "2718241" "subst" "1.23778E-5" "00000" "KCNV2_000109" "g.2718241G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G502A" "" "Germline" "" "" "0" "" "" "g.2718241G>A" "" "VUS" "" "0000788512" "0" "50" "9" "2718871" "2718871" "subst" "4.54234E-5" "00000" "KCNV2_000111" "g.2718871G>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1132T" "" "Germline" "" "" "0" "" "" "g.2718871G>T" "" "VUS" "" "0000792029" "3" "50" "9" "2717901" "2717901" "subst" "0" "00000" "KCNV2_000026" "g.2717901C>A" "" "{PMID:Littink 2010:20554613}" "" "c.162C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000792308" "3" "90" "9" "2718302" "2718302" "subst" "0" "00000" "KCNV2_000117" "g.2718302G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.563G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792309" "3" "90" "9" "2718302" "2718302" "subst" "0" "00000" "KCNV2_000117" "g.2718302G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.563G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792311" "3" "90" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.782C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792312" "3" "90" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.782C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792313" "0" "90" "9" "2718062" "2718068" "del" "0" "00000" "KCNV2_000115" "g.2718062_2718068del7" "" "{PMID:Thiadens_2012:22264887}" "" "c.323_329del7" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792314" "0" "90" "9" "2570596" "2807413" "del" "0" "00000" "KCNV2_000112" "g.2570596_2807413del" "" "{PMID:Thiadens_2012:22264887}" "" "g.2570596_2807413del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792315" "0" "90" "9" "2718295" "2718310" "del" "0" "00000" "KCNV2_000116" "g.2718295_2718310del16" "" "{PMID:Thiadens_2012:22264887}" "" "c.556_571del16" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792316" "0" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.1381G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792317" "0" "90" "9" "2717745" "2717748" "del" "0" "00000" "KCNV2_000113" "g.2717745_2717748delCAAA" "" "{PMID:Thiadens_2012:22264887}" "" "c.6_9delCAAA" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792318" "0" "90" "9" "2718002" "2718002" "subst" "0" "00000" "KCNV2_000114" "g.2718002G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.263G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792319" "0" "90" "9" "2718078" "2718078" "subst" "4.65714E-6" "00000" "KCNV2_000059" "g.2718078C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.339C>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792320" "0" "90" "9" "2718386" "2718386" "subst" "0.00125698" "00000" "KCNV2_000118" "g.2718386T>C" "" "{PMID:Thiadens_2012:22264887}" "" "c.647T>C" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792321" "0" "90" "9" "2718862" "2718862" "subst" "0.00045016" "00000" "KCNV2_000084" "g.2718862G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.1123G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792322" "0" "90" "9" "2718871" "2718871" "subst" "8.2588E-6" "00000" "KCNV2_000119" "g.2718871G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.1132G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000794964" "3" "50" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.427G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794965" "3" "50" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.427G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794966" "3" "50" "9" "2717898" "2717898" "subst" "0" "00000" "KCNV2_000120" "g.2717898C>G" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.159C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794967" "3" "50" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.427G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794968" "3" "50" "9" "2717979" "2717979" "subst" "0" "00000" "KCNV2_000121" "g.2717979G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.240G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794969" "3" "50" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.427G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794970" "3" "50" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.427G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000796642" "3" "90" "9" "2729445" "2730038" "del" "0" "00000" "KCNV2_000132" "g.2729445_2730038del" "" "{PMID:robson-2010:19952985}" "" "Hom del exon 2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796643" "0" "90" "9" "2718506" "2718506" "subst" "0" "00000" "KCNV2_000128" "g.2718506C>G" "" "{PMID:robson-2010:19952985}" "" "C767G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796644" "0" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:robson-2010:19952985}" "" "G427T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796645" "0" "90" "9" "2718506" "2718506" "subst" "0" "00000" "KCNV2_000128" "g.2718506C>G" "" "{PMID:robson-2010:19952985}" "" "C767G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796646" "0" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:robson-2010:19952985}" "" "G427T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796647" "0" "90" "9" "2718190" "2718190" "subst" "0" "00000" "KCNV2_000126" "g.2718190T>G" "" "{PMID:robson-2010:19952985}" "" "T451G" "2nd variant unknown" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796648" "0" "90" "9" "2718754" "2718763" "del" "0" "00000" "KCNV2_000131" "g.2718754_2718763del" "" "{PMID:robson-2010:19952985}" "" "1015_1024del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796649" "0" "90" "9" "2718190" "2718190" "subst" "0" "00000" "KCNV2_000126" "g.2718190T>G" "" "{PMID:robson-2010:19952985}" "" "T451G" "2nd variant unknown" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796650" "0" "90" "9" "2718754" "2718763" "del" "0" "00000" "KCNV2_000125" "g.2718754_2718763delACCTGGTGG" "" "{PMID:robson-2010:19952985}" "" "1015–1024delACCTGGTGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796651" "0" "90" "9" "2729465" "2729465" "subst" "0" "00000" "KCNV2_000133" "g.2729465G>A" "" "{PMID:robson-2010:19952985}" "" "G1376A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796652" "0" "90" "9" "2718064" "2718064" "subst" "1.32603E-5" "00000" "KCNV2_000123" "g.2718064C>T" "" "{PMID:robson-2010:19952985}" "" "C325T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796653" "0" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:robson-2010:19952985}" "" "G427T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796654" "0" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:robson-2010:19952985}" "" "G427T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796655" "0" "90" "9" "2729493" "2729493" "del" "0" "00000" "KCNV2_000135" "g.2729493delC" "" "{PMID:robson-2010:19952985}" "" "c.1404delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796656" "0" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:robson-2010:19952985}" "" "G427T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796657" "0" "90" "9" "2718303" "2718303" "subst" "8.63327E-6" "00000" "KCNV2_000127" "g.2718303G>C" "" "{PMID:robson-2010:19952985}" "" "G564C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796658" "0" "90" "9" "2718655" "2718655" "subst" "0" "00000" "KCNV2_000130" "g.2718655G>T" "" "{PMID:robson-2010:19952985}" "" "G916T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796659" "0" "90" "9" "2718169" "2718169" "subst" "0" "00000" "KCNV2_000125" "g.2718169C>T" "" "{PMID:robson-2010:19952985}" "" "C430T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796660" "0" "90" "9" "2718515" "2718515" "subst" "0" "00000" "KCNV2_000129" "g.2718515C>T" "" "{PMID:robson-2010:19952985}" "" "C776T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796661" "0" "90" "9" "2718116" "2718116" "subst" "0" "00000" "KCNV2_000124" "g.2718116T>A" "" "{PMID:robson-2010:19952985}" "" "T377A" "2nd variant unknown" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796662" "0" "90" "9" "2729470" "2729470" "subst" "1.62532E-5" "00000" "KCNV2_000134" "g.2729470G>T" "" "{PMID:robson-2010:19952985}" "" "G1381T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796663" "0" "90" "9" "2729727" "2729727" "subst" "0" "00000" "KCNV2_000136" "g.2729727G>T" "" "{PMID:robson-2010:19952985}" "" "G1638T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796664" "0" "90" "9" "2717746" "2717746" "subst" "0" "00000" "KCNV2_000122" "g.2717746A>T" "" "{PMID:robson-2010:19952985}" "" "A7T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798024" "0" "90" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "KCNV2 c.357dup, p.(Lys120Glnfs*252)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.2718096dup" "" "pathogenic" "ACMG" "0000798025" "0" "90" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "KCNV2 c.357dup, p.(Lys120Glnfs*252)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.2718096dup" "" "pathogenic" "ACMG" "0000798429" "0" "70" "9" "2717738" "2717738" "subst" "0.000585066" "00000" "KCNV2_000137" "g.2717738C>T" "" "{PMID:Song-2011:22025579}" "" "c.-2C>T" "" "Unknown" "" "rs75316505" "0" "" "" "" "" "likely pathogenic" "" "0000804076" "0" "30" "9" "2717997" "2717997" "subst" "0.000126482" "01943" "KCNV2_000091" "g.2717997C>G" "" "" "" "KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804077" "0" "50" "9" "2718349" "2718349" "subst" "0.000204446" "01943" "KCNV2_000139" "g.2718349G>A" "" "" "" "KCNV2(NM_133497.3):c.610G>A (p.E204K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804079" "0" "50" "9" "2718916" "2718916" "subst" "1.23795E-5" "01943" "KCNV2_000140" "g.2718916C>A" "" "" "" "KCNV2(NM_133497.3):c.1177C>A (p.H393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804084" "0" "90" "9" "2729692" "2729692" "dup" "0" "01943" "KCNV2_000141" "g.2729692dup" "" "" "" "KCNV2(NM_133497.3):c.1603dupA (p.S535Kfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804085" "0" "30" "9" "2729696" "2729696" "subst" "0.00157694" "01943" "KCNV2_000142" "g.2729696A>G" "" "" "" "KCNV2(NM_133497.3):c.1607A>G (p.N536S), KCNV2(NM_133497.4):c.1607A>G (p.N536S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811421" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811422" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811423" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811424" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811425" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811426" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811427" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.427G>T (p.Glu143*), Allele 2 c.427G>T (p.Glu143*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000811428" "3" "70" "9" "2718064" "2718064" "subst" "1.32603E-5" "00000" "KCNV2_000123" "g.2718064C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.325C>T p.(Gln109*), Allele 2 c.325C>T p.(Gln109*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718064C>T" "" "likely pathogenic" "" "0000812390" "0" "70" "9" "2718289" "2718289" "subst" "0" "00000" "KCNV2_000143" "g.2718289G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "KCNV2 Ex 1. c.550G>A p.(Glu184Lys), Ex.1 c.778 A>T p.(Lys260*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718289G>A" "" "likely pathogenic" "" "0000812391" "0" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "KCNV2 Ex 1. c.550G>A p.(Glu184Lys), Ex.1 c.778 A>T p.(Lys260*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000812755" "0" "90" "9" "2717819" "2717819" "subst" "0.00128353" "00000" "KCNV2_000072" "g.2717819G>A" "" "{PMID:Wang 2019:31106028}" "" "c.80G>A, p.(Arg27His)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.2717819G>A" "" "pathogenic" "" "0000812756" "0" "70" "9" "2718947" "2718947" "subst" "2.88227E-5" "00000" "KCNV2_000145" "g.2718947C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1208C>T, p.(Thr403Met)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.2718947C>T" "" "likely pathogenic" "" "0000813824" "0" "70" "16" "2719001" "2719001" "subst" "0" "00000" "KCNV2_000001" "g.2719001G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.1262G>A, rs563513486" "Heterozygous" "Germline" "yes" "rs563513486" "0" "" "" "g.2719001G>A" "" "likely pathogenic" "" "0000815428" "0" "50" "9" "2718718" "2718718" "subst" "0" "00000" "KCNV2_000148" "g.2718718C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "KCNV2:NM_133497 c.C979A, p.L327M" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.2718718C>A" "" "VUS" "ACMG" "0000815431" "0" "50" "9" "2717922" "2717924" "del" "8.12466E-6" "00000" "KCNV2_000146" "g.2717922_2717924del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "KCNV2:NM_133497 c.183_185del, p.E64del" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.2717922_2717924del" "" "VUS" "ACMG" "0000815449" "0" "50" "9" "2718180" "2718180" "subst" "0.000276266" "00000" "KCNV2_000147" "g.2718180C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "KCNV2:NM_133497 c.C441A, p.D147E" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.2718180C>A" "" "VUS" "ACMG" "0000820265" "1" "70" "9" "2719098" "2719101" "del" "0" "00000" "KCNV2_000021" "g.2719098_2719101del" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.1356+3_1356+6del/p.?, variant 2: c.1356+3_1356+6del/p.?" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.2719098_2719101del" "" "likely pathogenic" "" "0000820327" "1" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.442G>T/p.E148*, variant 2: c.442G>T/p.E148*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000820329" "1" "70" "9" "2718181" "2718181" "subst" "8.24674E-6" "00000" "KCNV2_000150" "g.2718181G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.442G>A/p.E148K, variant 2: c.1381G>A/p.G461R" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.2718181G>A" "" "likely pathogenic" "" "0000820338" "1" "70" "9" "2718925" "2718925" "subst" "4.12443E-6" "00000" "KCNV2_000153" "g.2718925G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.1186G>T/p.G396* , variant 2 :Deletion exon 1" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.2718925G>T" "" "likely pathogenic" "" "0000820862" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.442G>A/p.E148K, variant 2: c.1381G>A/p.G461R" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000820868" "1" "70" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "KCNV2, variant 1: c.1186G>T/p.G396* , variant 2 :Deletion exon 1" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000821283" "0" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Turro 2020:32581362}" "" "KCNV2 c.562T>A, p.Trp188Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718301T>A" "" "likely pathogenic" "" "0000821569" "0" "90" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Turro 2020:32581362}" "" "KCNV2 c.8_11delAACA, p.Lys3ArgfsTer96" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic" "" "0000822168" "0" "70" "9" "2729602" "2729602" "subst" "0.000199111" "00000" "KCNV2_000154" "g.2729602G>T" "" "{PMID:Agange-2017:27579568}" "" "c.1513G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822171" "0" "50" "9" "2718204" "2718204" "subst" "1.23573E-5" "00000" "KCNV2_000151" "g.2718204G>A" "" "{PMID:Agange-2017:27579568}" "" "c.465G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000822224" "1" "70" "9" "2716981" "2787016" "del" "0" "00000" "KCNV2_000149" "g.2716981_2787016del" "" "{PMID:Maggi_2021:33546218}" "" "g.2716981_2787016del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822225" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1381G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822355" "1" "70" "9" "2718835" "2718835" "del" "0" "00000" "KCNV2_000152" "g.2718835del" "" "{PMID:Maggi_2021:33546218}" "" "c.1096del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822356" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1381G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822706" "0" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Gliem 2020:32646556}" "" "KCNV2 c.8_11del c.1381G>A, p.Lys3Argfs*96 p.Gly461Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000822751" "0" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Gliem 2020:32646556}" "" "KCNV2 c.8_11del c.1381G>A, p.Lys3Argfs*96 p.Gly461Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000822952" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Méjécase 2020:32783370}" "" "KCNV2 c.427G >T p.(Glu143 *)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000823235" "3" "50" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Hull 2020:32856788}" "" "KCNV2 nucleotide 1, protein 1:whole gene del, confirmed by TaqMan qPCR" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.?" "" "VUS" "" "0000823236" "3" "50" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Hull 2020:32856788}" "" "KCNV2 nucleotide 1, protein 1:c.562T>A, p.Trp188Arg" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.2718301T>A" "" "VUS" "" "0000826043" "0" "70" "9" "2718107" "2718107" "subst" "0" "00000" "KCNV2_000155" "g.2718107T>G" "" "{PMID:Liu-2020:33090715}" "" "c.368T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826044" "0" "70" "9" "2729497" "2729497" "subst" "0" "00000" "KCNV2_000156" "g.2729497G>C" "" "{PMID:Liu-2020:33090715}" "" "c.1408G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000828748" "0" "90" "9" "2717939" "2717939" "subst" "4.06184E-6" "00000" "KCNV2_000157" "g.2717939G>A" "" "{PMID:Chen 2021:43360855}" "" "KCNV2 c.200G>A(;)1348T>G, V1: c.200G>A, (p.Trp67Ter)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.2717939G>A" "" "pathogenic" "ACMG" "0000828953" "0" "70" "9" "2719087" "2719087" "subst" "2.07881E-5" "00000" "KCNV2_000158" "g.2719087T>G" "" "{PMID:Chen 2021:43360855}" "" "KCNV2 c.200G>A(;)1348T>G, V2: c.1348T>G, (p.Trp450Gly)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.2719087T>G" "" "likely pathogenic" "ACMG" "0000829762" "1" "70" "9" "2717739" "2729728" "del" "0" "00006" "KCNV2_000159" "g.(?_2717739)_(2729728_?)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.2717689_2729777del" "" "Germline" "" "" "0" "" "" "g.(?_2717739)_(2729728_?)del" "" "likely pathogenic" "" "0000845545" "0" "50" "9" "2717872" "2717872" "subst" "3.24902E-5" "00000" "KCNV2_000160" "g.2717872G>A" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.133G>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000852239" "0" "50" "9" "2717834" "2717834" "subst" "0" "01943" "KCNV2_000162" "g.2717834C>G" "" "" "" "KCNV2(NM_133497.3):c.95C>G (p.S32C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852241" "0" "50" "9" "2718269" "2718269" "subst" "0" "02327" "KCNV2_000164" "g.2718269G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852242" "0" "50" "9" "2718338" "2718338" "subst" "0" "01943" "KCNV2_000165" "g.2718338G>A" "" "" "" "KCNV2(NM_133497.3):c.599G>A (p.R200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852243" "0" "30" "9" "2718355" "2718355" "subst" "5.67333E-5" "02330" "KCNV2_000166" "g.2718355C>A" "" "" "" "KCNV2(NM_133497.4):c.616C>A (p.R206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852244" "0" "50" "9" "2718384" "2718384" "subst" "0.000458222" "01943" "KCNV2_000081" "g.2718384G>C" "" "" "" "KCNV2(NM_133497.3):c.645G>C (p.K215N), KCNV2(NM_133497.4):c.645G>C (p.K215N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852245" "0" "50" "9" "2718911" "2718911" "subst" "0" "02330" "KCNV2_000167" "g.2718911C>A" "" "" "" "KCNV2(NM_133497.4):c.1172C>A (p.A391E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861616" "0" "30" "9" "2717797" "2717797" "subst" "0.00058088" "02330" "KCNV2_000161" "g.2717797G>A" "" "" "" "KCNV2(NM_133497.4):c.58G>A (p.E20K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861617" "0" "30" "9" "2717883" "2717883" "subst" "0.000686372" "02330" "KCNV2_000163" "g.2717883G>A" "" "" "" "KCNV2(NM_133497.4):c.144G>A (p.E48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861618" "0" "30" "9" "2718051" "2718051" "subst" "0.00121607" "02330" "KCNV2_000058" "g.2718051T>C" "" "" "" "KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861619" "0" "30" "9" "2718945" "2718945" "subst" "2.05938E-5" "01943" "KCNV2_000168" "g.2718945C>T" "" "" "" "KCNV2(NM_133497.3):c.1206C>T (p.F402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874538" "21" "70" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "0/200 Turkish and 0/100 Austrian controls" "{PMID:Ritter 2013:23143909}" "" "KCNV2 c.782C>A, p.(Ala261Asp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718521C>A" "" "likely pathogenic" "" "0000874539" "3" "70" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "0/200 Turkish and 0/100 Austrian controls" "{PMID:Ritter 2013:23143909}" "" "KCNV2 c.782C>A, p.(Ala261Asp)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718521C>A" "" "likely pathogenic" "" "0000876616" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876617" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876618" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876619" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876620" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876621" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876622" "3" "70" "9" "2718655" "2718655" "subst" "0" "00000" "KCNV2_000130" "g.2718655G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G916T, Glu306Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718655G>T" "" "likely pathogenic" "" "0000876623" "3" "70" "9" "2718655" "2718655" "subst" "0" "00000" "KCNV2_000130" "g.2718655G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G916T, Glu306Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718655G>T" "" "likely pathogenic" "" "0000876624" "3" "70" "9" "2718064" "2718064" "subst" "1.32603E-5" "00000" "KCNV2_000123" "g.2718064C>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 C325T, Gln109Stop" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718064C>T" "" "likely pathogenic" "" "0000876625" "3" "70" "9" "2717746" "2717746" "subst" "0" "00000" "KCNV2_000122" "g.2717746A>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 A7T, Lys3Stop" "homozygous; also heterozygous for L533V" "Unknown" "?" "" "0" "" "" "g.2717746A>T" "" "likely pathogenic" "" "0000876626" "3" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 Del 1015-1024 ACCTGGTGG, Del Asp339-Val341" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000876627" "3" "70" "9" "2729465" "2729465" "subst" "0" "00000" "KCNV2_000133" "g.2729465G>A" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G1376 A, Gly459Asp" "homozygous" "Unknown" "?" "" "0" "" "" "g.2729465G>A" "" "likely pathogenic" "" "0000876628" "1" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876629" "1" "70" "9" "2718172" "2718172" "subst" "0" "00000" "KCNV2_000177" "g.2718172C>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 C430T, Gin145Stop" "heterozygous, D147F in phase" "Unknown" "?" "" "0" "" "" "g.2718172C>T" "" "likely pathogenic" "" "0000876630" "1" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G427T, Glu143Stop" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876631" "0" "70" "9" "2718116" "2718116" "subst" "0" "00000" "KCNV2_000124" "g.2718116T>A" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 T377A/?, Leu126Gln" "single heterozygous" "Unknown" "?" "" "0" "" "" "g.2718116T>A" "" "likely pathogenic" "" "0000876632" "2" "70" "9" "2718506" "2718506" "subst" "0" "00000" "KCNV2_000128" "g.2718506C>G" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 C767G, Ser256Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718506C>G" "" "likely pathogenic" "" "0000876633" "2" "70" "9" "2718515" "2718515" "subst" "0" "00000" "KCNV2_000129" "g.2718515C>T" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 C776T, Ala259Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718515C>T" "" "likely pathogenic" "" "0000876634" "2" "70" "9" "2718303" "2718303" "subst" "8.63327E-6" "00000" "KCNV2_000127" "g.2718303G>C" "" "{PMID:Wu 2006:16909397}" "" "KCNV2 G564C, Trp188Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718303G>C" "" "likely pathogenic" "" "0000876717" "1" "70" "9" "2717956" "2717956" "subst" "0" "00000" "KCNV2_000174" "g.2717956G>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.217G>T, p.E73X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717956G>T" "" "likely pathogenic" "" "0000876718" "1" "70" "9" "2718289" "2718289" "subst" "0" "00000" "KCNV2_000143" "g.2718289G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.550G>A, p.E184K" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718289G>A" "" "likely pathogenic" "" "0000876719" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "homozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876720" "3" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.442G>T, p.E148X" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876721" "3" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1016_1024del, p.D339_V341del" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000876722" "1" "70" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.357_358insC, p.K120fsX371" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718096dup" "" "likely pathogenic" "" "0000876723" "1" "70" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.357_358insC, p.K120fsX371" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718096dup" "" "likely pathogenic" "" "0000876724" "1" "70" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.357_358insC, p.K120fsX371" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718096dup" "" "likely pathogenic" "" "0000876725" "3" "70" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.357_358insC, p.K120fsX371" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718096dup" "" "likely pathogenic" "" "0000876726" "1" "70" "9" "2718096" "2718096" "dup" "0" "00000" "KCNV2_000138" "g.2718096dup" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.357_358insC, p.K120fsX371" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718096dup" "" "likely pathogenic" "" "0000876727" "1" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.442G>T, p.E148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876728" "3" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.442G>T, p.E148X" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876729" "1" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.778A>T, p.K260X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000876730" "3" "70" "9" "2717965" "2717965" "subst" "0" "00000" "KCNV2_000175" "g.2717965C>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.226C>T, p.Q76X" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717965C>T" "" "likely pathogenic" "" "0000876731" "3" "70" "9" "2717965" "2717965" "subst" "0" "00000" "KCNV2_000175" "g.2717965C>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.226C>T, p.Q76X" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717965C>T" "" "likely pathogenic" "" "0000876732" "3" "70" "9" "2717965" "2717965" "subst" "0" "00000" "KCNV2_000175" "g.2717965C>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.226C>T, p.Q76X" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717965C>T" "" "likely pathogenic" "" "0000876733" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876734" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876735" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876736" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876737" "2" "70" "9" "2706639" "2723626" "del" "0" "00000" "KCNV2_000169" "g.2706639_2723626del" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 deletion confirmed by TaqMan" "heterozygous; described also in {PMID:Wissinger 2011:21882291}, deletion boundaries marked, \"exon 1+\" g.2696639_2713626del in hg18" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000876738" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.1381G>A, p.G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876739" "2" "70" "9" "2718290" "2718290" "subst" "0" "00000" "KCNV2_000185" "g.2718290A>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.551A>T, p.E184V" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718290A>T" "" "likely pathogenic" "" "0000876740" "2" "70" "9" "2718598" "2718598" "subst" "2.47895E-5" "00000" "KCNV2_000194" "g.2718598C>T" "" "{PMID:Wissinger 2008:18235024}" "" "KCNV2 c.859C>T, p.Q287X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718598C>T" "" "likely pathogenic" "" "0000876741" "1" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.778T>T, p.Lys260X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000876742" "1" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.778A>T, p.Lys260X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000876743" "1" "70" "9" "2718460" "2718461" "delins" "0" "00000" "KCNV2_000190" "g.2718460_2718461delinsTA" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.721C>T and c.722C>A, p.Pro241X" "single heterozygous, no second allele" "Unknown" "?" "" "0" "" "" "g.2718460_2718461delinsTA" "" "likely pathogenic" "" "0000876744" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876745" "3" "70" "9" "2719087" "2719087" "subst" "2.07881E-5" "00000" "KCNV2_000158" "g.2719087T>G" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1348T>G, p.Trp450Gly" "homozygous" "Germline" "yes" "" "0" "" "" "g.2719087T>G" "" "likely pathogenic" "" "0000876746" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876747" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876748" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876749" "2" "70" "9" "2718605" "2718605" "del" "8.25096E-6" "00000" "KCNV2_000195" "g.2718605del" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.867delC, p.Ser289fs" "error in annotation, the variant is probably c.866delC and not c.867delC (variant reference (C) does not agree with reference sequence (G)); heterozygous" "Unknown" "?" "" "0" "" "" "g.2718605del" "" "likely pathogenic" "" "0000876750" "2" "70" "9" "2729725" "2729725" "subst" "0" "00000" "KCNV2_000204" "g.2729725T>C" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.1637T>C, p.X546GlnextX61" "error in annotation, the variant is probably c.1636T>C and not c.1637T>C (variant reference (T) does not agree with reference sequence (A)); heterozygous" "Germline" "yes" "" "0" "" "" "g.2729725T>C" "" "likely pathogenic" "" "0000876751" "2" "70" "9" "2718272" "2718272" "subst" "1.25711E-5" "00000" "KCNV2_000184" "g.2718272C>T" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.533C>T, p.Pro178Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718272C>T" "" "likely pathogenic" "" "0000876752" "2" "70" "9" "2718377" "2718377" "subst" "9.37383E-5" "00000" "KCNV2_000188" "g.2718377G>C" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.638G>C, p.Arg213Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718377G>C" "" "likely pathogenic" "" "0000876753" "2" "70" "9" "2718331" "2718331" "subst" "4.58341E-6" "00000" "KCNV2_000186" "g.2718331T>A" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.592T>A, p.Cys198Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718331T>A" "" "likely pathogenic" "" "0000876754" "2" "70" "9" "2718212" "2718212" "subst" "0" "00000" "KCNV2_000180" "g.2718212T>G" "" "{PMID:Thiagalingam 2007:17896311}" "" "KCNV2 c.473T>G, p.Phe158Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718212T>G" "" "likely pathogenic" "" "0000876755" "21" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1381G>A, G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876756" "21" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1381G>A, G461R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876757" "3" "70" "9" "2729494" "2729494" "del" "0" "00000" "KCNV2_000203" "g.2729494del" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1404delC, H468fsX503" "error in annotation, first affected amino acid rule shifts it to L469fsX35; homozygous" "Germline" "yes" "" "0" "" "" "g.2729494del" "" "likely pathogenic" "" "0000876758" "3" "70" "9" "2729494" "2729494" "del" "0" "00000" "KCNV2_000203" "g.2729494del" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1404delC, H468fsX503" "error in annotation, first affected amino acid rule shifts it to L469fsX35; homozygous" "Germline" "yes" "" "0" "" "" "g.2729494del" "" "likely pathogenic" "" "0000876759" "3" "70" "9" "2729494" "2729494" "del" "0" "00000" "KCNV2_000203" "g.2729494del" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1404delC, H468fsX503" "error in annotation, first affected amino acid rule shifts it to L469fsX35; homozygous" "Germline" "yes" "" "0" "" "" "g.2729494del" "" "likely pathogenic" "" "0000876760" "3" "70" "9" "2729494" "2729494" "del" "0" "00000" "KCNV2_000203" "g.2729494del" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.1003delC, A334fsX453" "error in annotation, first affected amino acid rule shifts it to L335fsX119; homozygous" "Germline" "yes" "" "0" "" "" "g.2729494del" "" "likely pathogenic" "" "0000876761" "11" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.442G>T, E148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876762" "11" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:BenSalah 2008:18400204}" "" "KCNV2 c.442G>T, E148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876764" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.427G->T, Glu143X," "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876765" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.1381G->A, p.Gly461Arg," "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876766" "1" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.1381G->A, p.Gly461Arg," "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876767" "3" "70" "9" "2719055" "2719055" "subst" "0" "00000" "KCNV2_000201" "g.2719055C>T" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.1318C->T, p.Thr439Ile," "homozygous" "Germline" "yes" "" "0" "" "" "g.2719055C>T" "" "likely pathogenic" "" "0000876768" "2" "70" "9" "2718703" "2718703" "subst" "0" "00000" "KCNV2_000196" "g.2718703G>C" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.964G->C, p.Ala322Pro," "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718703G>C" "" "likely pathogenic" "" "0000876769" "2" "70" "9" "2718703" "2718703" "subst" "0" "00000" "KCNV2_000196" "g.2718703G>C" "" "{PMID:Sergouniotis 2011:21558291}" "" "KCNV2 c.964G->C, p.Ala322Pro," "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718703G>C" "" "likely pathogenic" "" "0000876771" "3" "70" "9" "2717758" "2728666" "delins" "0" "00000" "KCNV2_000172" "g.2717758_2728666delinsCATTTG" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717758_2728666delinsCATTTG" "" "likely pathogenic" "" "0000876772" "1" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.8_11del4, p.Lys3ArgfsX96" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000876773" "1" "70" "9" "2718230" "2718230" "subst" "4.11357E-6" "00000" "KCNV2_000181" "g.2718230T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.491T>C, p.Phe164Ser" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718230T>C" "" "likely pathogenic" "" "0000876774" "1" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.442G>T, p.Glu148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876775" "21" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.442G>T, p.Glu148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876776" "3" "70" "9" "2717758" "2728666" "delins" "0" "00000" "KCNV2_000172" "g.2717758_2728666delinsCATTTG" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717758_2728666delinsCATTTG" "" "likely pathogenic" "" "0000876777" "1" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.8_11del4, p.Lys3ArgfsX96" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000876778" "11" "70" "9" "2718950" "2718950" "subst" "0" "00000" "KCNV2_000200" "g.2718950T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1211T>C, p.Leu404Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718950T>C" "" "likely pathogenic" "" "0000876779" "11" "70" "9" "2718950" "2718950" "subst" "0" "00000" "KCNV2_000200" "g.2718950T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1211T>C, p.Leu404Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718950T>C" "" "likely pathogenic" "" "0000876780" "21" "70" "9" "2718062" "2718068" "del" "0" "00000" "KCNV2_000010" "g.2718062_2718068del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.323_329del7, p.Tyr108TrpfsX14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718062_2718068del" "" "likely pathogenic" "" "0000876781" "3" "70" "9" "2719087" "2719087" "subst" "4.15762E-6" "00000" "KCNV2_000202" "g.2719087T>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1348T>A, p.Trp450Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.2719087T>A" "" "likely pathogenic" "" "0000876782" "3" "70" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.782C>A, p.Ala261Asp" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718521C>A" "" "likely pathogenic" "" "0000876783" "11" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.778A>T, p.Lys260X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000876784" "11" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.778A>T, p.Lys260X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000876785" "21" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.8_11del4, p.Lys3ArgfsX96" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000876786" "1" "70" "9" "2718728" "2718728" "subst" "0" "00000" "KCNV2_000197" "g.2718728T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.989T>C, p.Phe330Ser" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718728T>C" "" "likely pathogenic" "" "0000876787" "1" "70" "9" "2718728" "2718728" "subst" "0" "00000" "KCNV2_000197" "g.2718728T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.989T>C, p.Phe330Ser" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718728T>C" "" "likely pathogenic" "" "0000876788" "1" "70" "9" "2718728" "2718728" "subst" "0" "00000" "KCNV2_000197" "g.2718728T>C" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.989T>C, p.Phe330Ser" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718728T>C" "" "likely pathogenic" "" "0000876789" "1" "70" "9" "2718466" "2718466" "subst" "8.89917E-6" "00000" "KCNV2_000191" "g.2718466C>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.727C>T, p.Arg243Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718466C>T" "" "likely pathogenic" "" "0000876790" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876791" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876792" "2" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1016_1024del, p.Asp339_Val341del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000876793" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876794" "2" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.1381G>A, p.Gly461Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876795" "11" "70" "9" "2718173" "2729911" "del" "0" "00000" "KCNV2_000178" "g.2718173_2729911del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D2: c.434_*30+154del, p.Glu145LeufsX4" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718173_2729911del" "" "likely pathogenic" "" "0000876796" "2" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.442G>T, p.Glu148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876797" "21" "70" "9" "2667638" "2747340" "del" "0" "00000" "KCNV2_000171" "g.2667638_2747340del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D4: g.2657638_2737340del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2667638_2747340del" "" "likely pathogenic" "" "0000876798" "21" "70" "9" "2667638" "2747340" "del" "0" "00000" "KCNV2_000171" "g.2667638_2747340del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D4: g.2657638_2737340del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2667638_2747340del" "" "likely pathogenic" "" "0000876799" "11" "70" "9" "2580596" "2817413" "del" "0" "00000" "KCNV2_000171" "g.2580596_2817413del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D5: g.2570596_2807413del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2580596_2817413del" "" "likely pathogenic" "" "0000876800" "21" "70" "9" "2718173" "2729911" "del" "0" "00000" "KCNV2_000178" "g.2718173_2729911del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D2: c.434_*30+154del, p.Glu145LeufsX4" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718173_2729911del" "" "likely pathogenic" "" "0000876801" "21" "70" "9" "2718173" "2729911" "del" "0" "00000" "KCNV2_000178" "g.2718173_2729911del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D2: c.434_*30+154del, p.Glu145LeufsX4" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718173_2729911del" "" "likely pathogenic" "" "0000876802" "11" "70" "9" "2718514" "2718534" "dup" "0" "00000" "KCNV2_000192" "g.2718514_2718534dup" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.775_795dup21, p.Ala259_Ala265dup7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718514_2718534dup" "" "likely pathogenic" "" "0000876803" "2" "70" "9" "2718514" "2718534" "dup" "0" "00000" "KCNV2_000192" "g.2718514_2718534dup" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.775_795dup21, p.Ala259_Ala265dup7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718514_2718534dup" "" "likely pathogenic" "" "0000876804" "2" "70" "9" "2718514" "2718534" "dup" "0" "00000" "KCNV2_000192" "g.2718514_2718534dup" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.775_795dup21, p.Ala259_Ala265dup7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718514_2718534dup" "" "likely pathogenic" "" "0000876805" "2" "70" "9" "2718514" "2718534" "dup" "0" "00000" "KCNV2_000192" "g.2718514_2718534dup" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.775_795dup21, p.Ala259_Ala265dup7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718514_2718534dup" "" "likely pathogenic" "" "0000876806" "2" "70" "9" "2718533" "2718534" "dup" "0" "00000" "KCNV2_000193" "g.2718533_2718534dup" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 c.794_795dupCC, p.Ser266ProfsX57" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718533_2718534dup" "" "likely pathogenic" "" "0000876810" "3" "70" "9" "2717898" "2717898" "subst" "0" "00000" "KCNV2_000120" "g.2717898C>G" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.159C>G (p.Y53X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717898C>G" "" "likely pathogenic" "" "0000876811" "3" "70" "9" "2717898" "2717898" "subst" "0" "00000" "KCNV2_000120" "g.2717898C>G" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.159C>G (p.Y53X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717898C>G" "" "likely pathogenic" "" "0000876812" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T (p.E143X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876813" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T (p.E143X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876814" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T (p.E143X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876815" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T ( p.E143X )" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876816" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T (p.E143X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876817" "3" "70" "9" "2717979" "2717979" "subst" "0" "00000" "KCNV2_000121" "g.2717979G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.240 G>T (p.E80D)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717979G>T" "" "likely pathogenic" "" "0000876818" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Khan 2012:21900228}" "" "KCNV2 c.427G>T (p.E143X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000876819" "1" "70" "9" "2718078" "2718078" "subst" "4.65714E-6" "00000" "KCNV2_000059" "g.2718078C>A" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.339C>A, p.Cys113X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718078C>A" "" "likely pathogenic" "" "0000876820" "1" "70" "9" "2718078" "2718078" "subst" "4.65714E-6" "00000" "KCNV2_000059" "g.2718078C>A" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.339C>A, p.Cys113X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718078C>A" "" "likely pathogenic" "" "0000876821" "1" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.8_11del4, p.Lys3ArgfsX29" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000876822" "2" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.442G>T, p.Glu148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876823" "2" "70" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.442G>T, p.Glu148X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718181G>T" "" "likely pathogenic" "" "0000876824" "2" "70" "9" "2718190" "2718192" "del" "0" "00000" "KCNV2_000170" "g.2718190_2718192del" "" "{PMID:Zobor 2012:23077521}" "" "KCNV2 c.447_449del3, p.Phe150del" "error in annotation: most 3\' nucleotide in a polynucleotide stretch rule switches the annotation from c.447_449del3 to c.451_453del and p.Phe150del to p.Phe151del; heterozygous" "Germline" "yes" "" "0" "" "" "g.2718190_2718192del" "" "likely pathogenic" "" "0000876833" "3" "70" "9" "2718198" "2718199" "dup" "0" "00000" "KCNV2_000179" "g.2718198_2718199dup" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.460_461insCG: p.Asp154Ala fsx58" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718198_2718199dup" "" "likely pathogenic" "" "0000876834" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.1381G > A: p.Gly461Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876835" "3" "70" "9" "2717977" "2717977" "subst" "0" "00000" "KCNV2_000176" "g.2717977G>T" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.238G > T*: p.Glu80Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717977G>T" "" "likely pathogenic" "" "0000876836" "3" "70" "9" "2717977" "2717977" "subst" "0" "00000" "KCNV2_000176" "g.2717977G>T" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.238G > T*: p.Glu80Stop" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717977G>T" "" "likely pathogenic" "" "0000876837" "11" "70" "9" "2718406" "2718406" "subst" "0" "00000" "KCNV2_000189" "g.2718406C>T" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.667C > T: p.Gln223Stop" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718406C>T" "" "likely pathogenic" "" "0000876838" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.1381G > A*: p.Gly461Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876839" "3" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.1015_1025DelACCTGGTGG*: p.Asp339_Val341Del" "error in annotation, length implied by coordinates must equal sequence deletion length - c.1015_1025delACCTGGTGG is actually c.1016_1024delACCTGGTGG; homozygous" "Germline" "yes" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000876840" "21" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Vincent 2013:23221069}" "" "KCNV2 c.1381G > A: p.Gly461Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876845" "3" "70" "9" "2718150" "2718153" "del" "0" "00000" "KCNV2_000041" "g.2718150_2718153del" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.411-414delCCTG, p.Leu138Alafs*70" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718150_2718153del" "" "likely pathogenic" "" "0000876846" "1" "70" "9" "2718497" "2718497" "del" "0" "00000" "KCNV2_000043" "g.2718497del" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.758delC, p.Pro253Hisfs*68" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718497del" "" "likely pathogenic" "" "0000876847" "2" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000198" "g.2718734_2718735dup" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.996_997insGC, p.Ser333Alafs*121" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876848" "3" "70" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.782C->A, p.Ala261Asp" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718521C>A" "" "likely pathogenic" "" "0000876849" "1" "70" "9" "2718697" "2718697" "subst" "2.45182E-5" "00000" "KCNV2_000045" "g.2718697C>T" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.958C->T, p.Arg320Cys" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718697C>T" "" "likely pathogenic" "" "0000876850" "2" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000198" "g.2718734_2718735dup" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.996_997insGC, p.Ser333Alafs*121" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876851" "1" "70" "9" "2718697" "2718697" "subst" "2.45182E-5" "00000" "KCNV2_000045" "g.2718697C>T" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.958C->T, p.Arg320Cys" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718697C>T" "" "likely pathogenic" "" "0000876852" "2" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000198" "g.2718734_2718735dup" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.996_997insGC, p.Ser333Alafs*121" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876853" "3" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000198" "g.2718734_2718735dup" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.996_997insGC, p.Ser333Alafs*121" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876854" "1" "70" "9" "2718497" "2718497" "del" "0" "00000" "KCNV2_000043" "g.2718497del" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.758delC, p.Pro253Hisfs*68" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718497del" "" "likely pathogenic" "" "0000876855" "2" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000198" "g.2718734_2718735dup" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.996_997insGC, p.Ser333Alafs*121" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876856" "3" "70" "9" "2718150" "2718153" "del" "0" "00000" "KCNV2_000041" "g.2718150_2718153del" "" "{PMID:Zelinger 2013:23725738}" "" "KCNV2 c.411-414delCCTG, p.Leu138Alafs*70" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718150_2718153del" "" "likely pathogenic" "" "0000876875" "21" "70" "9" "2718268" "2718268" "subst" "4.17537E-6" "00000" "KCNV2_000105" "g.2718268T>C" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.529T>C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718268T>C" "" "likely pathogenic" "" "0000876876" "21" "70" "9" "2718268" "2718268" "subst" "4.17537E-6" "00000" "KCNV2_000105" "g.2718268T>C" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.529T>C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718268T>C" "" "likely pathogenic" "" "0000876877" "21" "70" "9" "2718268" "2718268" "subst" "4.17537E-6" "00000" "KCNV2_000105" "g.2718268T>C" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.529T>C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2718268T>C" "" "likely pathogenic" "" "0000876878" "3" "70" "9" "2717819" "2717819" "subst" "0.00128353" "00000" "KCNV2_000072" "g.2717819G>A" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.80G>A" "complex homozygous" "Germline" "yes" "" "0" "" "" "g.2717819G>A" "" "likely pathogenic" "" "0000876879" "10" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.1381G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876880" "10" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.1381G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876881" "10" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.1381G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876882" "3" "70" "9" "2718356" "2718356" "subst" "0" "00000" "KCNV2_000187" "g.2718356G>C" "" "{PMID:Fujinami 2013:23885164}" "" "KCNV2 c.617G>C" "complex homozygous" "Germline" "yes" "" "0" "" "" "g.2718356G>C" "" "likely pathogenic" "" "0000876883" "0" "70" "9" "2717876" "2717876" "subst" "0" "00000" "KCNV2_000173" "g.2717876G>A" "" "{PMID:Lenis 2013:24029832}" "" "KCNV2 p.W46X:c.137G>A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.2717876G>A" "" "likely pathogenic" "" "0000876884" "0" "70" "9" "2718270" "2718270" "subst" "0" "00000" "KCNV2_000183" "g.2718270T>A" "" "{PMID:Lenis 2013:24029832}" "" "KCNV2 p.C177X: c.531T>A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.2718270T>A" "" "likely pathogenic" "" "0000876900" "3" "90" "9" "2673984" "2766722" "del" "0" "00000" "KCNV2_000171" "g.2673984_2766722del" "" "{PMID:Grigg 2013:24210337}" "" "KCNV2 whole gene deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.2673984_2766722del" "" "pathogenic" "" "0000876905" "3" "70" "9" "2717746" "2717746" "subst" "0" "00000" "KCNV2_000122" "g.2717746A>T" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 p.Lys3X" "no nucleotide annotation, extrapolated from protein and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.2717746A>T" "" "likely pathogenic" "" "0000876906" "3" "70" "9" "2718655" "2718655" "subst" "0" "00000" "KCNV2_000130" "g.2718655G>T" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 p.Gly306X" "no nucleotide annotation, error in annotation - amino acid at codon 306 is Glu, not Gly - probably known mutation p.Glu306X; extrapolated from protein and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.2718655G>T" "" "likely pathogenic" "" "0000876907" "3" "70" "9" "2718755" "2718763" "del" "0" "00000" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 c.1016_1024del, p.(Asp339_Val341del)" "no protein annotation, extrapolated from nucleotide" "Unknown" "?" "" "0" "" "" "g.2718755_2718763del" "" "likely pathogenic" "" "0000876908" "3" "70" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 p.Gly461Arg" "no nucleotide annotation, extrapolated from protein and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "likely pathogenic" "" "0000876909" "1" "70" "9" "2718938" "2718938" "del" "0" "00000" "KCNV2_000199" "g.2718938del" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 c.1199delT" "no protein annotation, extrapolated from nucleotide; heterozygous" "Unknown" "?" "" "0" "" "" "g.2718938del" "" "likely pathogenic" "" "0000876910" "2" "70" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Stockman 2014:24370833}" "" "KCNV2 c.8_11delAACA" "no protein annotation, extrapolated from nucleotide; heterozygous" "Unknown" "?" "" "0" "" "" "g.2717747_2717750del" "" "likely pathogenic" "" "0000876911" "3" "70" "9" "2718734" "2718735" "dup" "0" "00000" "KCNV2_000046" "g.2718734_2718735dup" "" "{PMID:Xu 2017:29210963}" "" "KCNV2 c.996_997insGC" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.996_997insGC to c.995_996dup; no protein annotation; homozygo" "Unknown" "?" "" "0" "" "" "g.2718734_2718735dup" "" "likely pathogenic" "" "0000876912" "11" "70" "9" "2717939" "2717939" "subst" "4.06184E-6" "00000" "KCNV2_000157" "g.2717939G>A" "" "{PMID:Kutsuma 2019:30877594}" "" "KCNV2 c.G200A (p.W67X)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2717939G>A" "" "likely pathogenic" "" "0000876913" "21" "70" "9" "2718259" "2718259" "dup" "0" "00000" "KCNV2_000182" "g.2718259dup" "" "{PMID:Kutsuma 2019:30877594}" "" "KCNV2 c.520dupG (p.D174GfsX198)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718259dup" "" "likely pathogenic" "" "0000888798" "0" "90" "9" "2718078" "2718078" "subst" "4.65714E-6" "02330" "KCNV2_000059" "g.2718078C>A" "" "" "" "KCNV2(NM_133497.3):c.339C>A (p.C113*), KCNV2(NM_133497.4):c.339C>A (p.C113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888799" "0" "90" "9" "2718181" "2718181" "subst" "1.23701E-5" "02330" "KCNV2_000006" "g.2718181G>T" "" "" "" "KCNV2(NM_133497.3):c.442G>T (p.E148*), KCNV2(NM_133497.4):c.442G>T (p.E148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896523" "0" "90" "9" "2717939" "2717939" "subst" "4.06184E-6" "00000" "KCNV2_000157" "g.2717939G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398" "{PMID:Chen 2021:33608557}" "" "KCNV2 c.200G>A(;)1348T>G; p.(Trp67Ter)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2717939G>A" "" "pathogenic" "" "0000896524" "0" "70" "9" "2719087" "2719087" "subst" "2.07881E-5" "00000" "KCNV2_000158" "g.2719087T>G" "Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000273; GnomAD_All: 0.0000204" "{PMID:Chen 2021:33608557}" "" "KCNV2 c.200G>A(;)1348T>G; p.(Trp450Gly)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2719087T>G" "" "likely pathogenic" "" "0000898853" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898854" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898855" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898856" "3" "70" "9" "2717898" "2717898" "subst" "0" "00000" "KCNV2_000120" "g.2717898C>G" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.159C>G, p.Tyr53*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2717898C>G" "" "likely pathogenic" "" "0000898857" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898858" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898859" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898860" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898861" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898862" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898863" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898864" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898865" "3" "70" "9" "2718269" "2718269" "subst" "0" "00000" "KCNV2_000164" "g.2718269G>C" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.530G>C, (p.Cys177Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718269G>C" "" "likely pathogenic" "" "0000898866" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000898867" "3" "70" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Abdelkader 2020:31960170}" "" "KCNV2 c.427G>T, p.Glu143*" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718166G>T" "" "likely pathogenic" "" "0000899249" "3" "70" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 complete homozygous deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000899250" "3" "70" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 complete homozygous deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000899251" "3" "70" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 complete homozygous deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000899252" "3" "70" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 complete homozygous deletion" "homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000899253" "3" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 c.562T > A, p.(Trp188Arg)." "homozygous" "Germline" "yes" "" "0" "" "" "g.2718301T>A" "" "likely pathogenic" "" "0000899254" "3" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 c.562T > A, p.(Trp188Arg)." "homozygous" "Germline" "yes" "" "0" "" "" "g.2718301T>A" "" "likely pathogenic" "" "0000899255" "3" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Kiray 2020:32154435}" "" "KCNV2 c.562T > A, p.(Trp188Arg)." "homozygous" "Germline" "yes" "" "0" "" "" "g.2718301T>A" "" "likely pathogenic" "" "0000899258" "3" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.427G>T, p.(Glu143*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718166G>T" "" "pathogenic" "" "0000899259" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899260" "1" "70" "9" "2717740" "2717740" "subst" "8.12513E-6" "00000" "KCNV2_000205" "g.2717740A>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1A>G, p.(Met1?)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2717740A>G" "" "likely pathogenic" "" "0000899261" "1" "70" "9" "2718301" "2718301" "subst" "0" "00000" "KCNV2_000099" "g.2718301T>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.562T>A, p.(Trp188Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718301T>A" "" "likely pathogenic" "" "0000899262" "3" "90" "9" "2718184" "2718185" "del" "0" "00000" "KCNV2_000208" "g.2718184_2718185del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.445_446delTA, p.(Tyr149Leufs*222)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718184_2718185del" "" "pathogenic" "" "0000899263" "1" "90" "9" "2718938" "2718938" "del" "0" "00000" "KCNV2_000199" "g.2718938del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1199delT, p.(Phe400Serfs*53)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718938del" "" "pathogenic" "" "0000899264" "3" "90" "9" "2717963" "2717969" "del" "0" "00000" "KCNV2_000206" "g.2717963_2717969del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.224_230delACCAGCA, p.(Asp75Glyfs*23)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2717963_2717969del" "" "pathogenic" "" "0000899265" "1" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778A>T, p.(Lys260*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899266" "3" "90" "9" "2718166" "2718166" "subst" "0" "00000" "KCNV2_000029" "g.2718166G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.427G>T, p.(Glu143*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718166G>T" "" "pathogenic" "" "0000899267" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899268" "1" "70" "9" "2718493" "2718493" "subst" "0" "00000" "KCNV2_000214" "g.2718493A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.754A>T, p.(Lys252*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718493A>T" "" "likely pathogenic" "" "0000899269" "3" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778A>T, p.(Lys260*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899270" "1" "90" "9" "2718605" "2718605" "del" "8.25096E-6" "00000" "KCNV2_000195" "g.2718605del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.866delC, p.(Ser289Trpfs*33)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718605del" "" "pathogenic" "" "0000899271" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899272" "1" "70" "9" "2718190" "2718190" "subst" "8.24396E-6" "00000" "KCNV2_000209" "g.2718190T>C" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.451T>C, p.(Phe151Val)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718190T>C" "" "likely pathogenic" "" "0000899273" "1" "90" "9" "2729470" "2729470" "subst" "1.62532E-5" "00000" "KCNV2_000134" "g.2729470G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>T, p.(Gly461*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>T" "" "pathogenic" "" "0000899274" "3" "70" "9" "2670960" "2783870" "del" "0" "00000" "KCNV2_000171" "g.2670960_2783870del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 NC_000009.11:g.2670960_2783870del, Whole Gene Deletion" "homozygous" "Unknown" "?" "" "0" "" "" "g.2670960_2783870del" "" "likely pathogenic" "" "0000899275" "3" "90" "9" "2718849" "2718867" "del" "0" "00000" "KCNV2_000219" "g.2718849_2718867del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1110_1128del, p.(Lys371Alafs*77)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718849_2718867del" "" "pathogenic" "" "0000899276" "3" "90" "9" "2718064" "2718064" "subst" "1.32603E-5" "00000" "KCNV2_000123" "g.2718064C>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.325C>T, p.(Gln109*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718064C>T" "" "pathogenic" "" "0000899277" "3" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778 A>T, p.(Lys260*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899278" "3" "90" "9" "2718521" "2718521" "subst" "0" "00000" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.782C>A, p.(Ala261Asp)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718521C>A" "" "pathogenic" "" "0000899279" "3" "70" "9" "2719055" "2719055" "subst" "0" "00000" "KCNV2_000201" "g.2719055C>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1316C>T, p.(Thr439Ile)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2719055C>T" "" "likely pathogenic" "" "0000899280" "1" "90" "9" "2718172" "2718172" "subst" "0" "00000" "KCNV2_000177" "g.2718172C>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.433C>T, p.(Gln145*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718172C>T" "" "pathogenic" "" "0000899281" "1" "90" "9" "2718172" "2718172" "subst" "0" "00000" "KCNV2_000177" "g.2718172C>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.433C>T, p.(Gln145*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718172C>T" "" "pathogenic" "" "0000899282" "1" "90" "9" "2718078" "2718078" "subst" "4.65714E-6" "00000" "KCNV2_000059" "g.2718078C>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.339C>A, p.(Cys113*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718078C>A" "" "pathogenic" "" "0000899283" "1" "50" "9" "2718925" "2718925" "subst" "4.12443E-6" "00000" "KCNV2_000153" "g.2718925G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1186G>T, p.(Gly396*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718925G>T" "" "VUS" "" "0000899284" "3" "90" "9" "2719098" "2719101" "del" "0" "00000" "KCNV2_000021" "g.2719098_2719101del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1356+3_+6delGAGT, p.?" "homozygous" "Unknown" "?" "" "0" "" "" "g.2719098_2719101del" "" "pathogenic" "" "0000899285" "1" "70" "9" "2718181" "2718181" "subst" "8.24674E-6" "00000" "KCNV2_000150" "g.2718181G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.442G>A, p.(Glu148Lys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718181G>A" "" "likely pathogenic" "" "0000899286" "3" "90" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.442G>T, p.(Glu148*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718181G>T" "" "pathogenic" "" "0000899287" "3" "90" "9" "2729470" "2729470" "subst" "1.62532E-5" "00000" "KCNV2_000134" "g.2729470G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>T, p.(Gly461*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>T" "" "pathogenic" "" "0000899288" "3" "90" "9" "2719098" "2719101" "del" "0" "00000" "KCNV2_000021" "g.2719098_2719101del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1356+3_+6delGAGT, p.?" "homozygous" "Unknown" "?" "" "0" "" "" "g.2719098_2719101del" "" "pathogenic" "" "0000899289" "1" "70" "9" "2719088" "2719088" "subst" "0" "00000" "KCNV2_000088" "g.2719088G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1349G>A, p.(Trp450*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2719088G>A" "" "likely pathogenic" "" "0000899290" "1" "70" "9" "2719088" "2719088" "subst" "0" "00000" "KCNV2_000088" "g.2719088G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1349G>A, p.(Trp450*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2719088G>A" "" "likely pathogenic" "" "0000899291" "3" "90" "9" "2718862" "2718862" "subst" "0.00045016" "00000" "KCNV2_000084" "g.2718862G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1123G>A, p.(Val375Met)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718862G>A" "" "pathogenic" "" "0000899292" "3" "70" "9" "2717526" "2719096" "del" "0" "00000" "PTCH1_000000" "g.(?_2717526)_(2719096_2729445)del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.(?_-214)_1356+?, Exon 1 Deletion" "homozygous" "Unknown" "?" "" "0" "" "" "g.(?_2717526)_(2719096_2729445)del" "" "likely pathogenic" "" "0000899293" "1" "70" "9" "2718289" "2718289" "subst" "0" "00000" "KCNV2_000143" "g.2718289G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.550G>A, p.(Glu184Lys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718289G>A" "" "likely pathogenic" "" "0000899294" "3" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778 A>T, p.(Lys260*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899295" "3" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778 A>T, p.(Lys260*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899296" "3" "70" "9" "2718194" "2718194" "subst" "0" "00000" "KCNV2_000042" "g.2718194A>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.455A>G, p.(Asp152Gly)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718194A>G" "" "likely pathogenic" "" "0000899297" "3" "70" "9" "2718194" "2718194" "subst" "0" "00000" "KCNV2_000042" "g.2718194A>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.455A>G, p.(Asp152Gly)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718194A>G" "" "likely pathogenic" "" "0000899298" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899299" "3" "90" "9" "2718670" "2718670" "subst" "1.22581E-5" "00000" "KCNV2_000218" "g.2718670G>C" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.931G>C, p.(Gly311Arg)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718670G>C" "" "pathogenic" "" "0000899300" "3" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899301" "3" "90" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.8_11delAACA, p.(Lys3Argfs*96)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic" "" "0000899302" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899303" "3" "90" "9" "2718064" "2718064" "subst" "1.32603E-5" "00000" "KCNV2_000123" "g.2718064C>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.325C>T, p.(Gln109*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2718064C>T" "" "pathogenic" "" "0000899304" "3" "50" "9" "2719075" "2719075" "dup" "0" "00000" "KCNV2_000220" "g.2719075dup" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1336dupC, p.(His446Profs*53)" "homozygous" "Unknown" "?" "" "0" "" "" "g.2719075dup" "" "VUS" "" "0000899305" "1" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778A>T, p.(Lys260*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899306" "1" "70" "9" "2718190" "2718190" "subst" "8.24396E-6" "00000" "KCNV2_000209" "g.2718190T>C" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.451T>C, p.(Phe151Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718190T>C" "" "likely pathogenic" "" "0000899307" "2" "70" "9" "2718233" "2718233" "subst" "4.12286E-6" "00000" "KCNV2_000212" "g.2718233A>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.494A>G, p.(Tyr165Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718233A>G" "" "likely pathogenic" "" "0000899308" "2" "70" "9" "2718505" "2718505" "subst" "0" "00000" "KCNV2_000215" "g.2718505T>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.766T>G, p.(Ser256Ala)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718505T>G" "" "likely pathogenic" "" "0000899309" "2" "90" "9" "2717747" "2717750" "del" "0" "00000" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.8_11delAACA, p.(Lys3Argfs*96)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic" "" "0000899310" "2" "90" "9" "2718156" "2718156" "subst" "8.38448E-6" "00000" "KCNV2_000207" "g.2718156C>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.417C>A, p.(Cys139*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718156C>A" "" "pathogenic" "" "0000899311" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899312" "2" "90" "9" "2718613" "2718628" "dup" "0" "00000" "KCNV2_000217" "g.2718613_2718628dup" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.874_889dupGGCGAGGGCGGCCCAG, p.(Asp297Glyfs*80)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718613_2718628dup" "" "pathogenic" "" "0000899313" "2" "70" "9" "2718514" "2718514" "subst" "0" "00000" "KCNV2_000216" "g.2718514G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.775G>A, p.(Ala259Thr)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718514G>A" "" "likely pathogenic" "" "0000899314" "2" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778A>T, p.(Lys260*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899315" "2" "70" "9" "2718223" "2718223" "subst" "0" "00000" "KCNV2_000211" "g.2718223T>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.484T>A, p.(Tyr162Asn)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718223T>A" "" "likely pathogenic" "" "0000899316" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899317" "2" "90" "9" "2718181" "2718181" "subst" "1.23701E-5" "00000" "KCNV2_000006" "g.2718181G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.442G>T, p.(Glu148*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718181G>T" "" "pathogenic" "" "0000899318" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899319" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899320" "2" "90" "9" "2718835" "2718835" "del" "0" "00000" "KCNV2_000152" "g.2718835del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1096del, p.(Val366Trpfs*88)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718835del" "" "pathogenic" "" "0000899321" "2" "70" "9" "2717526" "2719096" "del" "0" "00000" "PTCH1_000000" "g.(?_2717526)_(2719096_2729445)del" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.(?_-214)_1356+?, Exon 1 Del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.(?_2717526)_(2719096_2729445)del" "" "likely pathogenic" "" "0000899322" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899323" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(GIy461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899324" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(GIy461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899325" "2" "70" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.778 A>T, p.(Lys260*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718517A>T" "" "likely pathogenic" "" "0000899326" "2" "90" "9" "2718670" "2718670" "subst" "1.22581E-5" "00000" "KCNV2_000218" "g.2718670G>C" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.931G>C, p.(Gly311Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718670G>C" "" "pathogenic" "" "0000899327" "2" "70" "9" "2718212" "2718212" "subst" "0" "00000" "KCNV2_000180" "g.2718212T>G" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.473T>G, p.(Phe158Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2718212T>G" "" "likely pathogenic" "" "0000899328" "2" "70" "9" "2729464" "2729464" "subst" "4.06445E-6" "00000" "KCNV2_000221" "g.2729464G>T" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1375G>T, p.(Gly459Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729464G>T" "" "likely pathogenic" "" "0000899329" "2" "90" "9" "2729470" "2729470" "subst" "0.000130025" "00000" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Georgiou 2021:33309813}" "" "KCNV2 c.1381G>A, p.(Gly461Arg)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "" "0000899330" "21" "90" "9" "2729497" "2729497" "subst" "0" "00000" "KCNV2_000156" "g.2729497G>C" "" "{PMID:Lie 2021:33372566}" "" "KCNV2 c.1408 G > C (p.Gly470Arg)" "heterozygous; also c.106 C > T (p.Arg36Cys); c.920 T > G (p.Met307Arg) were found on this allele, likely benign" "Germline" "yes" "" "0" "" "" "g.2729497G>C" "" "pathogenic" "" "0000899331" "11" "90" "9" "2729589" "2729589" "subst" "4.06342E-6" "00000" "KCNV2_000222" "g.2729589C>G" "" "{PMID:Lie 2021:33372566}" "" "KCNV2 c.1500 C > G (p.Tyr500Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2729589C>G" "" "pathogenic" "" "0000899332" "3" "90" "9" "2718364" "2718364" "subst" "4.70239E-6" "00000" "KCNV2_000213" "g.2718364G>T" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.625G>T, (p.Glu209Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718364G>T" "" "pathogenic" "" "0000899333" "3" "90" "9" "2718364" "2718364" "subst" "4.70239E-6" "00000" "KCNV2_000213" "g.2718364G>T" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.625G>T, (p.Glu209Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.2718364G>T" "" "pathogenic" "" "0000899334" "1" "90" "9" "2718364" "2718364" "subst" "4.70239E-6" "00000" "KCNV2_000213" "g.2718364G>T" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.625G>T, (p.Glu209Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718364G>T" "" "pathogenic" "" "0000899335" "1" "90" "9" "2718364" "2718364" "subst" "4.70239E-6" "00000" "KCNV2_000213" "g.2718364G>T" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.625G>T, (p.Glu209Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718364G>T" "" "pathogenic" "" "0000899336" "1" "90" "9" "2718364" "2718364" "subst" "4.70239E-6" "00000" "KCNV2_000213" "g.2718364G>T" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.625G>T, (p.Glu209Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718364G>T" "" "pathogenic" "" "0000899337" "2" "90" "9" "2718196" "2718196" "subst" "4.1249E-6" "00000" "KCNV2_000210" "g.2718196C>G" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.457C>G, (p.Arg153Gly)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718196C>G" "" "pathogenic" "" "0000899338" "2" "90" "9" "2718196" "2718196" "subst" "4.1249E-6" "00000" "KCNV2_000210" "g.2718196C>G" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.457C>G, (p.Arg153Gly)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718196C>G" "" "pathogenic" "" "0000899339" "2" "90" "9" "2718196" "2718196" "subst" "4.1249E-6" "00000" "KCNV2_000210" "g.2718196C>G" "" "{PMID:Esteves-Leandro 2021:33706576}" "" "KCNV2 c.457C>G, (p.Arg153Gly)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2718196C>G" "" "pathogenic" "" "0000905878" "0" "90" "9" "0" "0" "" "0" "00000" "PTCH1_000000" "g.?" "" "{PMID:Zhu 2022:35456422}" "" "KCNV2 c.(1356+1_1357-1)_(*1_?)del, p.?" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000905879" "0" "70" "9" "2729726" "2729726" "subst" "0" "00000" "KCNV2_000224" "g.2729726A>C" "" "{PMID:Zhu 2022:35456422}" "" "KCNV2 c.1637A>C, p.(*546Serext*60)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2729726A>C" "" "likely pathogenic" "ACMG" "0000905888" "0" "90" "9" "2718517" "2718517" "subst" "3.84809E-5" "00000" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Zhu 2022:35456422}" "" "KCNV2 c.778A>T, p.Lys260Ter" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718517A>T" "" "pathogenic" "ACMG" "0000905889" "0" "90" "9" "2718697" "2718697" "subst" "2.45182E-5" "00000" "KCNV2_000045" "g.2718697C>T" "" "{PMID:Zhu 2022:35456422}" "" "KCNV2 c.958C>T, p.Arg320Cys" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2718697C>T" "" "pathogenic" "ACMG" "0000905898" "0" "50" "9" "2719031" "2719031" "subst" "0" "00000" "KCNV2_000223" "g.2719031C>T" "" "{PMID:Zhu 2022:35456422}" "" "KCNV2 c.1292C>T, p.(Ser431Phe)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2719031C>T" "" "VUS" "ACMG" "0000949264" "0" "30" "9" "2717738" "2717738" "subst" "0.000585066" "02330" "KCNV2_000137" "g.2717738C>T" "" "" "" "KCNV2(NM_133497.4):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958114" "0" "70" "9" "2718950" "2718950" "subst" "0" "00006" "KCNV2_000200" "g.2718950T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.2718950T>C" "" "likely pathogenic (recessive)" "ACMG" "0000958123" "3" "70" "9" "2718480" "2718481" "delins" "0" "00006" "KCNV2_000226" "g.2718480_2718481delinsAC" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.2718480_2718481delinsAC" "1184889" "likely pathogenic (recessive)" "ACMG" "0000958260" "3" "70" "9" "2719299" "2730682" "del" "0" "00006" "KCNV2_000125" "g.2719299_2730682del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000958486" "0" "70" "9" "2667638" "2747340" "del" "0" "00006" "KCNV2_000171" "g.2667638_2747340del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000958866" "0" "90" "9" "2717747" "2717750" "del" "0" "00006" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic (recessive)" "ACMG" "0000958871" "0" "90" "9" "2717747" "2717750" "del" "0" "00006" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic (recessive)" "ACMG" "0000958872" "0" "90" "9" "2717747" "2717750" "del" "0" "00006" "KCNV2_000002" "g.2717747_2717750del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.2717747_2717750del" "" "pathogenic (recessive)" "ACMG" "0000959302" "0" "50" "9" "2719098" "2719101" "del" "0" "00006" "KCNV2_000021" "g.2719098_2719101del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5" "Germline" "" "" "0" "" "" "g.2719098_2719101del" "" "VUS" "ACMG" "0000959309" "0" "50" "9" "2718467" "2718467" "subst" "0" "00006" "KCNV2_000225" "g.2718467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.2718467G>A" "" "VUS" "ACMG" "0000959313" "0" "50" "9" "2718467" "2718467" "subst" "0" "00006" "KCNV2_000225" "g.2718467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.2718467G>A" "" "VUS" "ACMG" "0000978666" "0" "90" "9" "2718857" "2718857" "del" "0" "02330" "KCNV2_000227" "g.2718857del" "" "" "" "KCNV2(NM_133497.4):c.1118delG (p.G373Vfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978669" "0" "30" "9" "2729696" "2729696" "subst" "0.00157694" "02330" "KCNV2_000142" "g.2729696A>G" "" "" "" "KCNV2(NM_133497.3):c.1607A>G (p.N536S), KCNV2(NM_133497.4):c.1607A>G (p.N536S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986450" "1" "70" "9" "2718172" "2718172" "subst" "0" "04405" "KCNV2_000177" "g.2718172C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718172C>T" "" "likely pathogenic" "ACMG" "0000986451" "1" "50" "9" "2718514" "2718534" "dup" "0" "04405" "KCNV2_000192" "g.2718514_2718534dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718514_2718534dup" "" "VUS" "ACMG" "0000986452" "3" "70" "9" "2719098" "2719101" "del" "0" "04405" "KCNV2_000021" "g.2719098_2719101del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2719098_2719101del" "" "likely pathogenic" "ACMG" "0000986453" "3" "90" "9" "2718697" "2718697" "subst" "2.45182E-5" "04405" "KCNV2_000045" "g.2718697C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718697C>T" "" "pathogenic" "ACMG" "0000986454" "1" "90" "9" "2718517" "2718517" "subst" "3.84809E-5" "04405" "KCNV2_000144" "g.2718517A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718517A>T" "" "pathogenic" "ACMG" "0000986455" "1" "90" "9" "2729470" "2729470" "subst" "0.000130025" "04405" "KCNV2_000005" "g.2729470G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2729470G>A" "" "pathogenic" "ACMG" "0000986456" "1" "50" "9" "2718359" "2718359" "subst" "0" "04405" "KCNV2_000232" "g.2718359G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718359G>C" "" "VUS" "ACMG" "0000986457" "3" "50" "9" "2718755" "2718763" "del" "0" "04405" "KCNV2_000101" "g.2718755_2718763del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718755_2718763del" "" "VUS" "ACMG" "0000986458" "3" "50" "9" "2718521" "2718521" "subst" "0" "04405" "KCNV2_000013" "g.2718521C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718521C>A" "" "VUS" "ACMG" "0000986459" "3" "50" "9" "2718359" "2718359" "subst" "0" "04405" "KCNV2_000232" "g.2718359G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718359G>C" "" "VUS" "ACMG" "0000986930" "2" "70" "9" "2718293" "2718293" "subst" "0" "04405" "KCNV2_000230" "g.2718293T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718293T>G" "" "likely pathogenic" "ACMG" "0000986931" "2" "50" "9" "2718704" "2718704" "subst" "4.08604E-6" "04405" "KCNV2_000233" "g.2718704C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718704C>A" "" "VUS" "ACMG" "0000986932" "2" "70" "9" "2718012" "2729791" "del" "0" "04405" "KCNV2_000229" "g.(?_2718012)_(2729791_?)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.(273_*64)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986933" "2" "90" "9" "2717739" "2719096" "del" "0" "04405" "KCNV2_000228" "g.(2717510_2717739)_(2719096_2729445)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000986934" "2" "70" "9" "2718734" "2718740" "del" "0" "04405" "KCNV2_000234" "g.2718734_2718740del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.2718734_2718740del" "" "likely pathogenic" "ACMG" "0000987160" "0" "70" "9" "2718353" "2718356" "dup" "0" "00006" "KCNV2_000231" "g.2718353_2718356dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.2718353_2718356dup" "" "likely pathogenic" "ACMG" "0000987301" "0" "70" "9" "2717739" "2719096" "del" "0" "00006" "KCNV2_000228" "g.(2717510_2717739)_(2719096_2729445)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000997823" "0" "50" "9" "2718476" "2718476" "subst" "1.29938E-5" "02327" "KCNV2_000235" "g.2718476T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037479" "0" "90" "9" "2729445" "2729445" "subst" "0" "02327" "KCNV2_000236" "g.2729445G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046198" "0" "50" "9" "2718593" "2718593" "subst" "0.00152119" "02327" "KCNV2_000064" "g.2718593T>G" "" "" "" "KCNV2(NM_133497.3):c.854T>G (p.M285R), KCNV2(NM_133497.4):c.854T>G (p.M285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KCNV2 ## Count = 532 "{{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}}" "0000079484" "00010428" "00" "-2513636" "0" "5470910" "0" "c.-2513636_*5469272del" "r.0?" "p.0?" "" "0000254911" "00010428" "30" "1083" "0" "1083" "0" "c.1083A>G" "r.(?)" "p.(Gln361=)" "" "0000255934" "00010428" "50" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Glu74Gly)" "" "0000278448" "00010428" "10" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000278449" "00010428" "10" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ala342=)" "" "0000278450" "00010428" "50" "1162" "0" "1162" "0" "c.1162C>G" "r.(?)" "p.(Leu388Val)" "" "0000278451" "00010428" "10" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Val436=)" "" "0000278452" "00010428" "90" "1356" "3" "1356" "6" "c.1356+3_1356+6del" "r.spl?" "p.?" "" "0000278453" "00010428" "10" "168" "0" "168" "0" "c.168G>A" "r.(?)" "p.(Glu56=)" "" "0000278454" "00010428" "10" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Phe151=)" "" "0000278455" "00010428" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000278456" "00010428" "10" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Val226Ile)" "" "0000278457" "00010428" "10" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Ala276=)" "" "0000278458" "00010428" "30" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Met285Arg)" "" "0000290113" "00010428" "50" "1018" "0" "1018" "0" "c.1018C>G" "r.(?)" "p.(Leu340Val)" "" "0000290114" "00010428" "30" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Leu350=)" "" "0000290115" "00010428" "30" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(His44Tyr)" "" "0000290116" "00010428" "30" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Pro537Leu)" "" "0000290117" "00010428" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Asp69=)" "" "0000290118" "00010428" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Ser97=)" "" "0000290119" "00010428" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Gly104=)" "" "0000290120" "00010428" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113Ter)" "" "0000290121" "00010428" "50" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(His26Tyr)" "" "0000290122" "00010428" "30" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Met285Arg)" "" "0000337647" "00010428" "10" "-64" "0" "-64" "0" "c.-64T>G" "r.(?)" "p.(=)" "" "0000337648" "00010428" "10" "-42" "0" "-42" "0" "c.-42C>G" "r.(?)" "p.(=)" "" "0000337649" "00010428" "10" "1644" "0" "1644" "0" "c.*6T>C" "r.(=)" "p.(=)" "" "0000339786" "00010428" "10" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Gly61=)" "" "0000339787" "00010428" "10" "759" "0" "759" "0" "c.759A>G" "r.(?)" "p.(Pro253=)" "" "0000339788" "00010428" "10" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Ala265=)" "" "0000339789" "00010428" "10" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Val305=)" "" "0000339790" "00010428" "10" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Asp462=)" "" "0000345134" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000345143" "00010428" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "" "0000345260" "00010428" "50" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.(Glu227Val)" "" "0000345323" "00010428" "10" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Glu283=)" "" "0000346089" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000347213" "00010428" "10" "1597" "0" "1597" "0" "c.1597C>G" "r.(?)" "p.(Leu533Val)" "" "0000349725" "00010428" "50" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Trp188Arg)" "" "0000349880" "00010428" "90" "323" "0" "329" "0" "c.323_329del" "r.(?)" "p.(Tyr108TrpfsTer14)" "" "0000350132" "00010428" "90" "162" "0" "162" "0" "c.162C>A" "r.(?)" "p.(Tyr54Ter)" "" "0000358271" "00010428" "90" "411" "0" "414" "0" "c.411_414del" "r.(?)" "p.(Leu138Alafs*72)" "1" "0000358272" "00010428" "90" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asp152Gly)" "1" "0000358273" "00010428" "90" "995" "0" "996" "0" "c.995_996dup" "r.(?)" "p.(Ser333Alafs*122)" "1" "0000358274" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "1" "0000358275" "00010428" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "1" "0000358276" "00010428" "90" "995" "0" "996" "0" "c.995_996dup" "r.(?)" "p.(Ser333Alafs*122)" "1" "0000358443" "00010428" "90" "758" "0" "758" "0" "c.758del" "r.(?)" "p.(Pro253Hisfs*69)" "1" "0000358444" "00010428" "90" "995" "0" "996" "0" "c.995_996dup" "r.(?)" "p.(Ser333Alafs*122)" "1" "0000537862" "00010428" "10" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000537863" "00010428" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(His44=)" "" "0000537864" "00010428" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "" "0000537865" "00010428" "50" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Asp65Asn)" "" "0000537866" "00010428" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Thr83=)" "" "0000537867" "00010428" "30" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Leu110=)" "" "0000537868" "00010428" "10" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Tyr112=)" "" "0000537869" "00010428" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "" "0000537870" "00010428" "50" "601" "0" "601" "0" "c.601A>G" "r.(?)" "p.(Ile201Val)" "" "0000537871" "00010428" "10" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Glu204=)" "" "0000537872" "00010428" "50" "645" "0" "645" "0" "c.645G>C" "r.(?)" "p.(Lys215Asn)" "" "0000537873" "00010428" "10" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Val226Ile)" "" "0000537874" "00010428" "50" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Pro253Leu)" "" "0000537875" "00010428" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Ala276=)" "" "0000537876" "00010428" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Glu283=)" "" "0000537877" "00010428" "10" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.(Met307Arg)" "" "0000537878" "00010428" "50" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.(Met307Arg)" "" "0000537879" "00010428" "70" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Val375Met)" "" "0000537880" "00010428" "90" "1128" "0" "1128" "0" "c.1128dup" "r.(?)" "p.(Arg377AlafsTer122)" "" "0000537881" "00010428" "50" "1145" "0" "1145" "0" "c.1145T>C" "r.(?)" "p.(Met382Thr)" "" "0000537882" "00010428" "10" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Glu433=)" "" "0000537883" "00010428" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Trp450Ter)" "" "0000537884" "00010428" "10" "1356" "15" "1356" "15" "c.1356+15C>T" "r.(=)" "p.(=)" "" "0000537889" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000537890" "00010428" "50" "1480" "0" "1480" "0" "c.1480A>C" "r.(?)" "p.(Asn494His)" "" "0000622249" "00010428" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Pro86=)" "" "0000652695" "00010428" "10" "645" "0" "645" "0" "c.645G>C" "r.(?)" "p.(Lys215Asn)" "" "0000652696" "00010428" "10" "849" "0" "849" "0" "c.849G>A" "r.(=)" "p.(=)" "" "0000652697" "00010428" "30" "915" "0" "915" "0" "c.915G>A" "r.(=)" "p.(=)" "" "0000670064" "00010428" "30" "915" "0" "915" "0" "c.915G>A" "r.(=)" "p.(=)" "" "0000678654" "00010428" "50" "1162" "0" "1162" "0" "c.1162C>G" "r.(?)" "p.(Leu388Val)" "" "0000684630" "00010428" "70" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "" "0000684771" "00010428" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000685259" "00010428" "90" "411" "0" "414" "0" "c.411_414del" "r.(?)" "p.(Leu138Alafs*72)" "" "0000685260" "00010428" "70" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asp152Gly)" "" "0000685261" "00010428" "90" "725" "0" "730" "0" "c.725_730del" "r.(?)" "p.(Gln242_Arg243del)" "" "0000685262" "00010428" "90" "758" "0" "758" "0" "c.758del" "r.(?)" "p.(?)" "" "0000685263" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000685264" "00010428" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0000685265" "00010428" "90" "995" "0" "996" "0" "c.995_996dup" "r.(?)" "p.(Ser333Alafs*122)" "" "0000685266" "00010428" "70" "1441" "0" "1441" "0" "c.1441G>C" "r.(?)" "p.(Gly481Arg)" "" "0000686134" "00010428" "30" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "" "0000710274" "00010428" "90" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3Argfs*96)" "" "0000713442" "00010428" "90" "6" "0" "9" "0" "c.6_9del" "r.(?)" "p.(Lys3Argfs*96)" "" "0000713635" "00010428" "90" "291" "0" "292" "0" "c.291_292ins[105_223;TCACCACCACCTT;231_291]" "r.(?)" "p.(Thr98fs)" "" "0000713776" "00010428" "90" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000714031" "00010428" "70" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Trp188Arg)" "" "0000714109" "00010428" "90" "291" "0" "292" "0" "c.291_292ins[105_223;TCACCACCACCTT;231_291]" "r.(?)" "p.(Thr98fs)" "" "0000722476" "00010428" "50" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Gln291Pro)" "" "0000733224" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000733225" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000734382" "00010428" "50" "1074" "0" "1074" "0" "c.1074G>C" "r.(?)" "p.(Glu358Asp)" "" "0000734405" "00010428" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "" "0000760368" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000763953" "00010428" "70" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Gly470Asp)" "" "0000764033" "00010428" "70" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "" "0000764036" "00010428" "70" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Asp152Asn)" "" "0000765766" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000765783" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000765806" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000765839" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000765899" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000765900" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143Ter)" "" "0000783893" "00010428" "50" "259" "0" "266" "0" "c.259_266dup" "r.(?)" "p.(Ser90ArgfsTer13)" "" "0000783979" "00010428" "50" "1441" "0" "1441" "0" "c.1441G>C" "r.(?)" "p.(Gly481Arg)" "" "0000787688" "00010428" "70" "1285" "0" "1288" "0" "c.1285_1288del" "r.(?)" "p.(Val429ThrfsTer24)" "" "0000788316" "00010428" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Cys)" "1" "0000788433" "00010428" "50" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Arg)" "1" "0000788512" "00010428" "50" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Val378Phe)" "1" "0000792029" "00010428" "50" "162" "0" "162" "0" "c.162C>A" "r.(?)" "p.(Tyr54*)" "1" "0000792308" "00010428" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Trp188*)" "1" "0000792309" "00010428" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Trp188*)" "1" "0000792311" "00010428" "90" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "1" "0000792312" "00010428" "90" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "1" "0000792313" "00010428" "90" "323" "0" "329" "0" "c.323_329del7" "r.(?)" "p.(Tyr108Trpfs*14)" "1" "0000792314" "00010428" "90" "-147144" "0" "79324" "0" "c.-147144_*77686del" "r.(?)" "p.?" "1_2" "0000792315" "00010428" "90" "556" "0" "571" "0" "c.556_571del16" "r.(?)" "p.(Tyr187Serfs*19)" "1" "0000792316" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "2" "0000792317" "00010428" "90" "6" "0" "9" "0" "c.6_9delCAAA" "r.(?)" "p.(Lys3Argfs*96)" "1" "0000792318" "00010428" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Gly88Asp)" "1" "0000792319" "00010428" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113*)" "1" "0000792320" "00010428" "90" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" "1" "0000792321" "00010428" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Val375Met)" "1" "0000792322" "00010428" "90" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Ile)" "1" "0000794964" "00010428" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000794965" "00010428" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000794966" "00010428" "50" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Tyr53*)" "1" "0000794967" "00010428" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000794968" "00010428" "50" "240" "0" "240" "0" "c.240G>T" "r.(?)" "p.(Glu80Asp)" "1" "0000794969" "00010428" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000794970" "00010428" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796642" "00010428" "90" "1357" "-1" "1948" "1" "c.(?_1357-1)_(*310+1_?)del" "r.spl?" "p.?" "1i_2" "0000796643" "00010428" "90" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ser256Trp)" "1" "0000796644" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796645" "00010428" "90" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ser256Trp)" "1" "0000796646" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796647" "00010428" "90" "451" "0" "451" "0" "c.451T>G" "r.(?)" "p.(Phe151Val)" "1" "0000796648" "00010428" "90" "1015" "0" "1024" "0" "c.1015_1024del" "r.(?)" "p.(Asp339Profs*112)" "1" "0000796649" "00010428" "90" "451" "0" "451" "0" "c.451T>G" "r.(?)" "p.(Phe151Val)" "1" "0000796650" "00010428" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000796651" "00010428" "90" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Asp)" "2" "0000796652" "00010428" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "1" "0000796653" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796654" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796655" "00010428" "90" "1404" "0" "1404" "0" "c.1404delC" "r.(?)" "p.(Leu469Trpfs*35)" "2" "0000796656" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "1" "0000796657" "00010428" "90" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Trp188Cys)" "1" "0000796658" "00010428" "90" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Glu306*)" "1" "0000796659" "00010428" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000796660" "00010428" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "1" "0000796661" "00010428" "90" "377" "0" "377" "0" "c.377T>A" "r.(?)" "p.(Leu126Gln)" "1" "0000796662" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Gly461*)" "2" "0000796663" "00010428" "90" "1638" "0" "1638" "0" "c.1638G>T" "r.(?)" "p.(*546Tyrext*60)" "2" "0000796664" "00010428" "90" "7" "0" "7" "0" "c.7A>T" "r.(?)" "p.(Lys3*)" "1" "0000798024" "00010428" "90" "357" "0" "357" "0" "c.357dup" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000798025" "00010428" "90" "357" "0" "357" "0" "c.357dup" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000798429" "00010428" "70" "-2" "0" "-2" "0" "c.-2C>T" "r.(=)" "p.(=)" "1" "0000804076" "00010428" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Pro86=)" "" "0000804077" "00010428" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Glu204Lys)" "" "0000804079" "00010428" "50" "1177" "0" "1177" "0" "c.1177C>A" "r.(?)" "p.(His393Asn)" "" "0000804084" "00010428" "90" "1603" "0" "1603" "0" "c.1603dup" "r.(?)" "p.(Ser535Lysfs*21)" "" "0000804085" "00010428" "30" "1607" "0" "1607" "0" "c.1607A>G" "r.(?)" "p.(Asn536Ser)" "" "0000811421" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811422" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811423" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811424" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811425" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811426" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811427" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000811428" "00010428" "70" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000812390" "00010428" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "1" "0000812391" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "1" "0000812755" "00010428" "90" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000812756" "00010428" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Thr403Met)" "" "0000813824" "00010428" "70" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Gly421Asp)" "" "0000815428" "00010428" "50" "979" "0" "979" "0" "c.979C>A" "r.(?)" "p.(Leu327Met)" "" "0000815431" "00010428" "50" "183" "0" "185" "0" "c.183_185del" "r.(?)" "p.(Glu64del)" "" "0000815449" "00010428" "50" "441" "0" "441" "0" "c.441C>A" "r.(?)" "p.(Asp147Glu)" "" "0000820265" "00010428" "70" "1356" "3" "1356" "6" "c.1356+3_1356+6del" "r.spl?" "p.(?)" "" "0000820327" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000820329" "00010428" "70" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "0000820338" "00010428" "70" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Gly396*)" "" "0000820862" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000820868" "00010428" "70" "-214" "0" "1356" "1" "c.(?_-214)_(1356+1_1357-1)del" "r.spl" "p.(?)" "" "0000821283" "00010428" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000821569" "00010428" "90" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3Argfs*96)" "" "0000822168" "00010428" "70" "1513" "0" "1513" "0" "c.1513G>T" "r.(?)" "p.(Ala505Ser)" "2" "0000822171" "00010428" "50" "465" "0" "465" "0" "c.465G>A" "r.(=)" "p.(=)" "1" "0000822224" "00010428" "70" "-759" "0" "58927" "0" "c.-759_*57289del" "r.(?)" "p.?" "1_2" "0000822225" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "2" "0000822355" "00010428" "70" "1096" "0" "1096" "0" "c.1096del" "r.(?)" "p.(Val366Trpfs*88)" "1" "0000822356" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "2" "0000822706" "00010428" "70" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3Argfs*96)" "1,2" "0000822751" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "1,2" "0000822952" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000823235" "00010428" "50" "-214" "0" "1948" "0" "c.(?_-214)_(*310_?)del" "r.spl" "p.(?)" "" "0000823236" "00010428" "50" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000826043" "00010428" "70" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Leu123Arg)" "1" "0000826044" "00010428" "70" "1408" "0" "1408" "0" "c.1408G>C" "r.(?)" "p.(Gly470Arg)" "2" "0000828748" "00010428" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Trp67*)" "" "0000828953" "00010428" "70" "1348" "0" "1348" "0" "c.1348T>G" "r.(?)" "p.(Trp450Gly)" "" "0000829762" "00010428" "70" "" "0" "" "0" "c.{0}" "r.0" "p.0" "" "0000845545" "00010428" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Ser)" "1" "0000852239" "00010428" "50" "95" "0" "95" "0" "c.95C>G" "r.(?)" "p.(Ser32Cys)" "" "0000852241" "00010428" "50" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Cys177Ser)" "" "0000852242" "00010428" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200His)" "" "0000852243" "00010428" "30" "616" "0" "616" "0" "c.616C>A" "r.(?)" "p.(Arg206=)" "" "0000852244" "00010428" "50" "645" "0" "645" "0" "c.645G>C" "r.(?)" "p.(Lys215Asn)" "" "0000852245" "00010428" "50" "1172" "0" "1172" "0" "c.1172C>A" "r.(?)" "p.(Ala391Glu)" "" "0000861616" "00010428" "30" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Glu20Lys)" "" "0000861617" "00010428" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Glu48=)" "" "0000861618" "00010428" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Gly104=)" "" "0000861619" "00010428" "30" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Phe402=)" "" "0000874538" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000874539" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000876616" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876617" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876618" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876619" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876620" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876621" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876622" "00010428" "70" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Glu306*)" "" "0000876623" "00010428" "70" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Glu306*)" "" "0000876624" "00010428" "70" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000876625" "00010428" "70" "7" "0" "7" "0" "c.7A>T" "r.(?)" "p.(Lys3*)" "" "0000876626" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000876627" "00010428" "70" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Asp)" "" "0000876628" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876629" "00010428" "70" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145*)" "" "0000876630" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876631" "00010428" "70" "377" "0" "377" "0" "c.377T>A" "r.(?)" "p.(Leu126Gln)" "" "0000876632" "00010428" "70" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ser256Trp)" "" "0000876633" "00010428" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000876634" "00010428" "70" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Trp188Cys)" "" "0000876717" "00010428" "70" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73*)" "" "0000876718" "00010428" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "" "0000876719" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876720" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876721" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000876722" "00010428" "70" "357" "0" "358" "0" "c.357_358insC" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000876723" "00010428" "70" "357" "0" "358" "0" "c.357_358insC" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000876724" "00010428" "70" "357" "0" "358" "0" "c.357_358insC" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000876725" "00010428" "70" "357" "0" "358" "0" "c.357_358insC" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000876726" "00010428" "70" "357" "0" "358" "0" "c.357_358insC" "r.(?)" "p.(Lys120Glnfs*252)" "" "0000876727" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876728" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876729" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000876730" "00010428" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "" "0000876731" "00010428" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "" "0000876732" "00010428" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "" "0000876733" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876734" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876735" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876736" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876737" "00010428" "70" "-11101" "0" "1356" "4531" "c.-11101_1356+4531del" "r.?" "p.?" "" "0000876738" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876739" "00010428" "70" "551" "0" "551" "0" "c.551A>T" "r.(?)" "p.(Glu184Val)" "" "0000876740" "00010428" "70" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Gln287*)" "" "0000876741" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000876742" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000876743" "00010428" "70" "721" "0" "722" "0" "c.721_722delinsTA" "r.(?)" "p.(Pro241*)" "" "0000876744" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876745" "00010428" "70" "1348" "0" "1348" "0" "c.1348T>G" "r.(?)" "p.(Trp450Gly)" "" "0000876746" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876747" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876748" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876749" "00010428" "70" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Ser289Trpfs*33)" "" "0000876750" "00010428" "70" "1637" "0" "1637" "0" "c.1637T>C" "r.(?)" "p.(*546Glnext*60)" "" "0000876751" "00010428" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "" "0000876752" "00010428" "70" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Arg213Pro)" "" "0000876753" "00010428" "70" "592" "0" "592" "0" "c.592T>A" "r.(?)" "p.(Cys198Ser)" "" "0000876754" "00010428" "70" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Phe158Cys)" "" "0000876755" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876756" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876757" "00010428" "70" "1404" "0" "1404" "0" "c.1404del" "r.(?)" "p.(Leu469Trpfs*35)" "" "0000876758" "00010428" "70" "1404" "0" "1404" "0" "c.1404del" "r.(?)" "p.(Leu469Trpfs*35)" "" "0000876759" "00010428" "70" "1404" "0" "1404" "0" "c.1404del" "r.(?)" "p.(Leu469Trpfs*35)" "" "0000876760" "00010428" "70" "1003" "0" "1003" "0" "c.1003del" "r.(?)" "p.(Leu335Serfs*119)" "" "0000876761" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876762" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876764" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "Glu143X" "0000876765" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "p.Gly461Arg" "0000876766" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "p.Gly461Arg" "0000876767" "00010428" "70" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Thr439Ile)" "p.Thr439Ile" "0000876768" "00010428" "70" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Ala322Pro)" "p.Ala322Pro" "0000876769" "00010428" "70" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Ala322Pro)" "p.Ala322Pro" "0000876771" "00010428" "70" "19" "0" "1356" "9571" "c.19_1356+9571delinsCATTTG" "r.(?)" "p.(Arg7Hisfs*57)" "" "0000876772" "00010428" "70" "8" "0" "11" "0" "c.8_11del4" "r.(?)" "p.(Lys3Argfs*96)" "" "0000876773" "00010428" "70" "491" "0" "491" "0" "c.491T>C" "r.(?)" "p.(Phe164Ser)" "" "0000876774" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876775" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876776" "00010428" "70" "19" "0" "1356" "9571" "c.19_1356+9571delinsCATTTG" "r.(?)" "p.?" "" "0000876777" "00010428" "70" "8" "0" "11" "0" "c.8_11del4" "r.(?)" "p.(Lys3Argfs*96)" "" "0000876778" "00010428" "70" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "" "0000876779" "00010428" "70" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "" "0000876780" "00010428" "70" "323" "0" "329" "0" "c.323_329del7" "r.(?)" "p.(Tyr108Trpfs*14)" "" "0000876781" "00010428" "70" "1348" "0" "1348" "0" "c.1348T>A" "r.(?)" "p.(Trp450Arg)" "" "0000876782" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000876783" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000876784" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000876785" "00010428" "70" "8" "0" "11" "0" "c.8_11del4" "r.(?)" "p.(Lys3Argfs*96)" "" "0000876786" "00010428" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" "0000876787" "00010428" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" "0000876788" "00010428" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" "0000876789" "00010428" "70" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "0000876790" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876791" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876792" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000876793" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876794" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876795" "00010428" "70" "434" "0" "1668" "154" "c.434_*30+154del" "r.(?)" "p.(Gln145_Asn545delinsLeuCysValVal)" "" "0000876796" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876797" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000876798" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000876799" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000876800" "00010428" "70" "434" "0" "1668" "154" "c.434_*30+154del" "r.(?)" "p.(Gln145_Asn545delinsLeuCysValVal)" "" "0000876801" "00010428" "70" "434" "0" "1668" "154" "c.434_*30+154del" "r.(?)" "p.(Gln145_Asn545delinsLeuCysValVal)" "" "0000876802" "00010428" "70" "775" "0" "795" "0" "c.775_795dup21" "r.(?)" "p.(Ala259_Ala265dup)" "" "0000876803" "00010428" "70" "775" "0" "795" "0" "c.775_795dup21" "r.(?)" "p.(Ala259_Ala265dup)" "" "0000876804" "00010428" "70" "775" "0" "795" "0" "c.775_795dup21" "r.(?)" "p.(Ala259_Ala265dup)" "" "0000876805" "00010428" "70" "775" "0" "795" "0" "c.775_795dup21" "r.(?)" "p.(Ala259_Ala265dup)" "" "0000876806" "00010428" "70" "794" "0" "795" "0" "c.794_795dupCC" "r.(?)" "p.(Ser266Profs*57)" "" "0000876810" "00010428" "70" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Tyr53*)" "" "0000876811" "00010428" "70" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Tyr53*)" "" "0000876812" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876813" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876814" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876815" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876816" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876817" "00010428" "70" "240" "0" "240" "0" "c.240G>T" "r.(?)" "p.(Glu80Asp)" "" "0000876818" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000876819" "00010428" "70" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113*)" "" "0000876820" "00010428" "70" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113*)" "" "0000876821" "00010428" "70" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3Argfs*96)" "" "0000876822" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876823" "00010428" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000876824" "00010428" "70" "451" "0" "453" "0" "c.451_453del" "r.(?)" "p.(Phe151del)" "" "0000876833" "00010428" "70" "460" "0" "461" "0" "c.460_461insCG" "r.(?)" "p.(Asp154Alafs*58)" "" "0000876834" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876835" "00010428" "70" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Glu80*)" "" "0000876836" "00010428" "70" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Glu80*)" "" "0000876837" "00010428" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "" "0000876838" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876839" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000876840" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876845" "00010428" "70" "411" "0" "414" "0" "c.411_414delCCTG" "r.(?)" "p.(Leu138Alafs*72)" "" "0000876846" "00010428" "70" "758" "0" "758" "0" "c.758delC" "r.(?)" "p.(Pro253Hisfs*69)" "" "0000876847" "00010428" "70" "996" "0" "997" "0" "c.996_997insGC" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876848" "00010428" "70" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000876849" "00010428" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0000876850" "00010428" "70" "996" "0" "997" "0" "c.996_997insGC" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876851" "00010428" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0000876852" "00010428" "70" "996" "0" "997" "0" "c.996_997insGC" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876853" "00010428" "70" "996" "0" "997" "0" "c.996_997insGC" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876854" "00010428" "70" "758" "0" "758" "0" "c.758delC" "r.(?)" "p.(Pro253Hisfs*69)" "" "0000876855" "00010428" "70" "996" "0" "997" "0" "c.996_997insGC" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876856" "00010428" "70" "411" "0" "414" "0" "c.411_414delCCTG" "r.(?)" "p.(Leu138Alafs*72)" "" "0000876875" "00010428" "70" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "" "0000876876" "00010428" "70" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "" "0000876877" "00010428" "70" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "" "0000876878" "00010428" "70" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000876879" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876880" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876881" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876882" "00010428" "70" "617" "0" "617" "0" "c.617G>C" "r.(?)" "p.(Arg206Pro)" "" "0000876883" "00010428" "70" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Trp46*)" "" "0000876884" "00010428" "70" "531" "0" "531" "0" "c.531T>A" "r.(?)" "p.(Cys177*)" "" "0000876900" "00010428" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000876905" "00010428" "70" "7" "0" "7" "0" "c.7A>T" "r.(?)" "p.(Lys3*)" "" "0000876906" "00010428" "70" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Glu306*)" "" "0000876907" "00010428" "70" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "" "0000876908" "00010428" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000876909" "00010428" "70" "1199" "0" "1199" "0" "c.1199del" "r.(?)" "p.(Phe400Serfs*54)" "" "0000876910" "00010428" "70" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3Argfs*96)" "" "0000876911" "00010428" "70" "995" "0" "996" "0" "c.995_996dup" "r.(?)" "p.(Ser333Alafs*122)" "" "0000876912" "00010428" "70" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Trp67*)" "1" "0000876913" "00010428" "70" "520" "0" "520" "0" "c.520dupG" "r.(?)" "p.(Asp174Glyfs*198)" "1" "0000888798" "00010428" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113Ter)" "" "0000888799" "00010428" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "" "0000896523" "00010428" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Trp67Ter)" "" "0000896524" "00010428" "70" "1348" "0" "1348" "0" "c.1348T>G" "r.(?)" "p.(Trp450Gly)" "" "0000898853" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898854" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898855" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898856" "00010428" "70" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.Tyr53*" "" "0000898857" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898858" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898859" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898860" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898861" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898862" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898863" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898864" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898865" "00010428" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "(p.Cys177Ser)" "" "0000898866" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000898867" "00010428" "70" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.Glu143*" "" "0000899249" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000899250" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000899251" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000899252" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.0?" "" "0000899253" "00010428" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000899254" "00010428" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000899255" "00010428" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000899258" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000899259" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899260" "00010428" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000899261" "00010428" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Trp188Arg)" "" "0000899262" "00010428" "90" "445" "0" "446" "0" "c.445_446delTA" "r.(?)" "p.(Tyr149Leufs*222)" "" "0000899263" "00010428" "90" "1199" "0" "1199" "0" "c.1199delT" "r.(?)" "p.(Phe400Serfs*53)" "" "0000899264" "00010428" "90" "224" "0" "230" "0" "c.224_230delACCAGCA" "r.(?)" "p.(Asp75Glyfs*23)" "" "0000899265" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899266" "00010428" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000899267" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899268" "00010428" "70" "754" "0" "754" "0" "c.754A>T" "r.(?)" "p.(Lys252*)" "" "0000899269" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899270" "00010428" "90" "866" "0" "866" "0" "c.866delC" "r.(?)" "p.(Ser289Trpfs*33)" "" "0000899271" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899272" "00010428" "70" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Phe151Val)" "" "0000899273" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Gly461*)" "" "0000899274" "00010428" "70" "0" "0" "0" "0" "c.0?" "r.0" "p.0" "" "0000899275" "00010428" "90" "1110" "0" "1128" "0" "c.1110_1128del" "r.(?)" "p.(Lys371Alafs*77)" "" "0000899276" "00010428" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000899277" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899278" "00010428" "90" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "" "0000899279" "00010428" "70" "1316" "0" "1316" "0" "c.1316C>T" "r.(?)" "p.(Thr439Ile)" "" "0000899280" "00010428" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145*)" "" "0000899281" "00010428" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145*)" "" "0000899282" "00010428" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Cys113*)" "" "0000899283" "00010428" "50" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Gly396*)" "" "0000899284" "00010428" "90" "1356" "3" "1356" "6" "c.1356+3_1356+6delGAGT" "r.(?)" "p.?" "" "0000899285" "00010428" "70" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "0000899286" "00010428" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000899287" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Gly461*)" "" "0000899288" "00010428" "90" "1356" "3" "1356" "6" "c.1356+3_1356+6delGAGT" "r.(?)" "p.?" "" "0000899289" "00010428" "70" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Trp450*)" "" "0000899290" "00010428" "70" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Trp450*)" "" "0000899291" "00010428" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Val375Met)" "" "0000899292" "00010428" "70" "" "0" "" "0" "c.(?_-214)_(1356+1)_(1357-1)del" "r.(?)" "Exon 1 Deletion" "" "0000899293" "00010428" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "" "0000899294" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899295" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899296" "00010428" "70" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asp152Gly)" "" "0000899297" "00010428" "70" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asp152Gly)" "" "0000899298" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899299" "00010428" "90" "931" "0" "931" "0" "c.931G>C" "r.(?)" "p.(Gly311Arg)" "" "0000899300" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899301" "00010428" "90" "8" "0" "11" "0" "c.8_11delAACA" "r.(?)" "p.(Lys3Argfs*96)" "" "0000899302" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899303" "00010428" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000899304" "00010428" "50" "1336" "0" "1336" "0" "c.1336dupC" "r.(?)" "p.(His446Profs*53)" "" "0000899305" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899306" "00010428" "70" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Phe151Leu)" "" "0000899307" "00010428" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Tyr165Cys)" "" "0000899308" "00010428" "70" "766" "0" "766" "0" "c.766T>G" "r.(?)" "p.(Ser256Ala)" "" "0000899309" "00010428" "90" "8" "0" "11" "0" "c.8_11delAACA" "r.(?)" "p.(Lys3Argfs*96)" "" "0000899310" "00010428" "90" "417" "0" "417" "0" "c.417C>A" "r.(?)" "p.(Cys139*)" "" "0000899311" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899312" "00010428" "90" "874" "0" "889" "0" "c.874_889dupGGCGAGGGCGGCCCAG" "r.(?)" "p.(Asp297Glyfs*80)" "" "0000899313" "00010428" "70" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000899314" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899315" "00010428" "70" "484" "0" "484" "0" "c.484T>A" "r.(?)" "p.(Tyr162Asn)" "" "0000899316" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899317" "00010428" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000899318" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899319" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899320" "00010428" "90" "1096" "0" "1096" "0" "c.1096del" "r.(?)" "p.(Val366Trpfs*88)" "" "0000899321" "00010428" "70" "" "0" "" "0" "c.(?_-214)_(1356+1)_(1357-1)del" "r.0?" "p.0?" "" "0000899322" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899323" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(GIy461Arg)" "" "0000899324" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(GIy461Arg)" "" "0000899325" "00010428" "70" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000899326" "00010428" "90" "931" "0" "931" "0" "c.931G>C" "r.(?)" "p.(Gly311Arg)" "" "0000899327" "00010428" "70" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Phe158Cys)" "" "0000899328" "00010428" "70" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Gly459Cys)" "" "0000899329" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000899330" "00010428" "90" "1408" "0" "1408" "0" "c.1408G>C" "r.(?)" "p.(Gly470Arg)" "" "0000899331" "00010428" "90" "1500" "0" "1500" "0" "c.1500C>G" "r.(?)" "p.(Tyr500Ter)" "" "0000899332" "00010428" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "(p.Glu209*)" "" "0000899333" "00010428" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "(p.Glu209*)" "" "0000899334" "00010428" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "(p.Glu209*)" "" "0000899335" "00010428" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "(p.Glu209*)" "" "0000899336" "00010428" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "(p.Glu209*)" "" "0000899337" "00010428" "90" "457" "0" "457" "0" "c.457C>G" "r.(?)" "(p.Arg153Gly)" "" "0000899338" "00010428" "90" "457" "0" "457" "0" "c.457C>G" "r.(?)" "(p.Arg153Gly)" "" "0000899339" "00010428" "90" "457" "0" "457" "0" "c.457C>G" "r.(?)" "(p.Arg153Gly)" "" "0000905878" "00010428" "90" "1357" "-1" "1639" "0" "c.(1356+1_1357-1)_(*1_?)del" "r.(?)" "p.?" "" "0000905879" "00010428" "70" "1637" "0" "1637" "0" "c.1637A>C" "r.(?)" "p.(*546Serext*60)" "" "0000905888" "00010428" "90" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260*)" "" "0000905889" "00010428" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0000905898" "00010428" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Phe)" "" "0000949264" "00010428" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000958114" "00010428" "70" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "" "0000958123" "00010428" "70" "741" "0" "742" "0" "c.741_742delinsAC" "r.(?)" "p.(Trp247Ter)" "" "0000958260" "00010428" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000958486" "00010428" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000958866" "00010428" "90" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3ArgfsTer96)" "" "0000958871" "00010428" "90" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3ArgfsTer96)" "" "0000958872" "00010428" "90" "8" "0" "11" "0" "c.8_11del" "r.(?)" "p.(Lys3ArgfsTer96)" "" "0000959302" "00010428" "50" "1356" "3" "1356" "6" "c.1356+3_1356+6del" "r.spl?" "p.?" "" "0000959309" "00010428" "50" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000959313" "00010428" "50" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000978666" "00010428" "90" "1118" "0" "1118" "0" "c.1118del" "r.(?)" "p.(Gly373Valfs*81)" "" "0000978669" "00010428" "30" "1607" "0" "1607" "0" "c.1607A>G" "r.(?)" "p.(Asn536Ser)" "" "0000986450" "00010428" "70" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145Ter)" "1" "0000986451" "00010428" "50" "775" "0" "795" "0" "c.775_795dup" "r.(?)" "p.(Ala259_Ala265dup)" "1" "0000986452" "00010428" "70" "1356" "3" "1356" "6" "c.1356+3_1356+6del" "r.spl" "p.?" "1i" "0000986453" "00010428" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "1" "0000986454" "00010428" "90" "778" "0" "778" "0" "c.778A>T" "r.(?)" "p.(Lys260Ter)" "1" "0000986455" "00010428" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "2" "0000986456" "00010428" "50" "620" "0" "620" "0" "c.620G>C" "r.(?)" "p.(Arg207Pro)" "1" "0000986457" "00010428" "50" "1016" "0" "1024" "0" "c.1016_1024del" "r.(?)" "p.(Asp339_Val341del)" "1" "0000986458" "00010428" "50" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Asp)" "1" "0000986459" "00010428" "50" "620" "0" "620" "0" "c.620G>C" "r.(?)" "p.(Arg207Pro)" "1" "0000986930" "00010428" "70" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Leu185Arg)" "1" "0000986931" "00010428" "50" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ala322Asp)" "1" "0000986932" "00010428" "70" "" "0" "" "0" "c.(?_273)_(*64_?)del" "r.?" "p.(Pro92Ilefs*3)" "11i" "0000986933" "00010428" "90" "1" "0" "1356" "1" "c.(-230_1)_(1356+1_1357-1)del" "r.0?" "p.(Met1?)" "1_1i" "0000986934" "00010428" "70" "995" "0" "1001" "0" "c.995_1001del" "r.(?)" "p.(Arg332ProfsTer120)" "1" "0000987160" "00010428" "70" "614" "0" "617" "0" "c.614_617dup" "r.(?)" "p.(Arg207AlafsTer166)" "" "0000987301" "00010428" "70" "1" "0" "1356" "1" "c.(-230_1)_(1356+1_1357-1)del" "r.?" "p.0?" "" "0000997823" "00010428" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Leu246Pro)" "" "0001037479" "00010428" "90" "1357" "-1" "1357" "-1" "c.1357-1G>C" "r.spl?" "p.?" "" "0001046198" "00010428" "50" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Met285Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 441 "{{screeningid}}" "{{variantid}}" "0000050504" "0000079484" "0000144774" "0000788316" "0000156349" "0000358271" "0000156350" "0000358272" "0000156351" "0000358273" "0000156351" "0000358443" "0000156352" "0000358274" "0000156353" "0000358275" "0000156353" "0000358444" "0000156354" "0000358276" "0000296006" "0000652695" "0000296007" "0000652696" "0000296008" "0000652697" "0000306376" "0000670064" "0000309757" "0000684630" "0000309869" "0000684771" "0000310348" "0000685259" "0000310349" "0000685260" "0000310350" "0000685261" "0000310351" "0000685262" "0000310352" "0000685263" "0000310353" "0000685264" "0000310354" "0000685265" "0000310355" "0000685266" "0000310985" "0000686134" "0000326682" "0000710274" "0000329319" "0000713442" "0000329319" "0000713776" "0000329512" "0000713635" "0000329512" "0000714109" "0000329674" "0000714031" "0000335215" "0000733224" "0000335216" "0000733225" "0000335686" "0000734382" "0000335686" "0000734405" "0000360476" "0000760368" "0000363376" "0000763953" "0000363396" "0000764033" "0000363396" "0000764036" "0000364824" "0000765766" "0000364841" "0000765783" "0000364864" "0000765806" "0000364897" "0000765839" "0000364957" "0000765899" "0000364958" "0000765900" "0000373744" "0000783893" "0000373744" "0000783979" "0000376155" "0000787688" "0000376619" "0000788433" "0000376631" "0000788512" "0000379009" "0000792029" "0000379194" "0000792308" "0000379195" "0000792309" "0000379197" "0000792311" "0000379198" "0000792312" "0000379199" "0000792313" "0000379200" "0000792314" "0000379201" "0000792315" "0000379202" "0000792316" "0000379203" "0000792317" "0000379204" "0000792318" "0000379205" "0000792319" "0000379206" "0000792320" "0000379207" "0000792321" "0000379208" "0000792322" "0000381503" "0000794964" "0000381504" "0000794965" "0000381505" "0000794966" "0000381506" "0000794967" "0000381507" "0000794968" "0000381508" "0000794969" "0000381509" 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