### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CA4) # 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}}" "CA4" "carbonic anhydrase IV" "17" "q23.1" "unknown" "NG_012050.2" "UD_132118447774" "" "https://www.LOVD.nl/CA4" "" "1" "1375" "762" "114760" "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" "http://databases.lovd.nl/shared/refseq/CA4_NM_000717.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-10-07 12:54:09" "00000" "2025-02-07 18:57:27" ## 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}}" "00004205" "CA4" "carbonic anhydrase IV" "001" "NM_000717.3" "" "NP_000708.1" "" "" "" "-94" "1061" "939" "58227302" "58236907" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 66 "{{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}}" "00033087" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033090" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033126" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033127" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033166" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00173866" "" "" "" "2" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP207" "00173892" "" "" "" "1" "" "02449" "{PMID:Wang 2014b:25097241}" "" "F" "" "United States" "" "0" "" "" "" "31" "00233463" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233464" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233465" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233466" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233467" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233468" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233469" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233470" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233471" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00291803" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00313914" "" "" "" "24" "" "00006" "{PMID:Rebello 2004:15090652}" "24 affected individuals from 2 unrelated families" "F;M" "" "South Africa" "" "0" "" "" "" "Fam1/Fam2" "00313915" "" "" "" "17" "" "00006" "{PMID:Yang 2005:15563508}" "6-generation family, 17 affected (10F, 7M)" "F;M" "" "" "" "0" "" "" "white, Northern Europe" "FamA" "00313916" "" "" "" "4" "" "00006" "{PMID:Yang 2005:15563508}" "4-generation family, 4 affected (2F, 2M)" "F;M" "" "" "" "0" "" "" "white, Northern Europe" "FamB" "00313917" "" "" "" "3" "" "00006" "{PMID:Yang 2005:15563508}" "3-generation family, 3 affected (2F, M)" "F;M" "" "" "" "0" "" "" "white, Northern Europe" "FamC" "00313918" "" "" "" "2" "" "00006" "{PMID:Yang 2005:15563508}" "2-generation family, affected father/son" "M" "" "" "" "0" "" "" "white, Northern Europe" "FamD" "00313919" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "M" "" "China" "" "0" "" "" "" "patient" "00313920" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313921" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313922" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313923" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313924" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313925" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313926" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313927" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313928" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313929" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313930" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313931" "" "" "" "1" "" "00006" "{PMID:Alvarez 2007:17652713}" "" "" "" "China" "" "0" "" "" "" "" "00313933" "" "" "" "7" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313934" "" "" "" "1" "" "00006" "{PMID:Tian 2010:20450258}" "" "F" "" "China" "" "0" "" "" "" "patient" "00313935" "" "" "" "8" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313936" "" "" "" "6" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313937" "" "" "" "1" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "patient" "00313938" "" "" "" "1" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313939" "" "" "" "4" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313940" "" "" "" "1" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313941" "" "" "" "6" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00313942" "" "" "" "1" "" "00006" "{PMID:Tian 2010:20450258}" "" "" "" "China" "" "0" "" "" "" "" "00328415" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690937" "00332219" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB42" "00335632" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335633" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335634" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335635" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00368956" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "M" "?" "United States" "" "0" "" "" "" "3" "00372629" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP042" "00372701" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP391" "00372724" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP302" "00372736" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP224" "00372743" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP284" "00379399" "" "" "" "1" "" "00000" "{PMID:Simpson-2011:21147909}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379425" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00381043" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00381054" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00382500" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "362" "00386171" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-126, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-283" "00393455" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00410334" "" "" "" "2" "" "04178" "{PMID:Li 2022:35033039}, {DOI:Li 2022:10.1186/s12886-021-02242-5}" "" "M" "?" "China" "" "0" "" "" "" "P01" "00426929" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 32, individual 38" "M" "" "" "" "0" "" "" "" "32_38" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00033087" "04214" "00033090" "04214" "00033126" "04214" "00033127" "04214" "00033166" "04214" "00173866" "04214" "00173892" "00058" "00233463" "04214" "00233464" "04214" "00233465" "04214" "00233466" "04214" "00233467" "04214" "00233468" "04214" "00233469" "04214" "00233470" "04214" "00233471" "04214" "00291803" "00198" "00313914" "04214" "00313915" "04214" "00313916" "04214" "00313917" "04214" "00313918" "04214" "00313919" "04214" "00313920" "04214" "00313921" "04214" "00313922" "04214" "00313923" "04214" "00313924" "04214" "00313925" "04214" "00313926" "04214" "00313927" "04214" "00313928" "04214" "00313929" "04214" "00313930" "04214" "00313931" "04214" "00313933" "04214" "00313934" "04214" "00313935" "04214" "00313936" "04214" "00313937" "04214" "00313938" "04214" "00313939" "04214" "00313940" "04214" "00313941" "04214" "00313942" "04214" "00328415" "04214" "00332219" "04214" "00335632" "04214" "00335633" "04214" "00335634" "04214" "00335635" "04214" "00368956" "04214" "00372629" "04214" "00372701" "04214" "00372724" "04214" "00372736" "04214" "00372743" "04214" "00379399" "04214" "00379425" "04214" "00381043" "04214" "00381054" "04214" "00382500" "04214" "00386171" "04214" "00393455" "04214" "00410334" "00112" "00426929" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 00198, 04214 ## Count = 33 "{{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}}" "0000026516" "04214" "00033087" "00229" "Unknown" "7y" "clumped pigmentary retinal degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026519" "04214" "00033090" "00229" "Unknown" "20y" "hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026555" "04214" "00033126" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026556" "04214" "00033127" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026595" "04214" "00033166" "00229" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000138719" "04214" "00173866" "02449" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000138745" "00058" "00173892" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "conr-rod dystrophy" "" "0000238238" "04214" "00313914" "00006" "Familial, autosomal dominant" "" "see paper; ..., retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP17" "retinitis pigmentosa" "" "0000238239" "04214" "00313915" "00006" "Familial, autosomal dominant" "" "see paper; ..., ±15y-reduced night, reduced peripheral vision; rod photoreceptor atrophy, bone spicule pigmentation, cone photoreceptor dysfunction, photophobia, color vision changes, decreased central vision; ERG reduced rod responses, reduced cone responses" "" "" "" "" "" "" "" "" "RP17" "retinitis pigmentosa" "" "0000238240" "04214" "00313916" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP17" "retinitis pigmentosa" "" "0000238241" "04214" "00313919" "00006" "Isolated (sporadic)" "11y" "see paper; ..." "03y" "" "" "" "" "" "" "" "RP17" "retinitis pigmentosa" "" "0000238242" "04214" "00313934" "00006" "Isolated (sporadic)" "11y" "see paper; retinitis pigmentosa; 8y-nyctalopia, poor vision; ..." "08y" "" "" "" "" "" "" "" "RP17" "retinitis pigmentosa" "" "0000246641" "04214" "00328415" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000250406" "04214" "00332219" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253552" "04214" "00335632" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253553" "04214" "00335633" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253554" "04214" "00335634" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253555" "04214" "00335635" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000264294" "04214" "00368956" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "Bull’s-eye maculopathy, cone dystrophy" "" "0000267908" "04214" "00372629" "00000" "Familial, autosomal dominant" "26y" "see paper; ..." "9y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267980" "04214" "00372701" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268003" "04214" "00372724" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268015" "04214" "00372736" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268022" "04214" "00372743" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273272" "04214" "00379399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273298" "04214" "00379425" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000274894" "04214" "00381043" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274905" "04214" "00381054" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000276349" "04214" "00382500" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Generalized retinal dystrophy (non-syndromic)" "" "0000279974" "04214" "00386171" "00000" "Familial, autosomal recessive" "25y" "" "" "20y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000286661" "04214" "00393455" "00000" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000302446" "00112" "00410334" "04178" "Familial, autosomal dominant" "06y" "HP:0000546 - Retinal degeneration \r\nHP:0000510 - Rod-cone dystrophy" "06y" "12y" "" "" "" "" "" "" "" "" "" "0000318067" "04214" "00426929" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033155" "00033087" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033158" "00033090" "1" "00229" "00229" "2012-02-13 08:19:26" "00006" "2012-05-18 13:59:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033194" "00033126" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033195" "00033127" "1" "00229" "00229" "2012-02-13 08:19:26" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033234" "00033166" "1" "00229" "00229" "2012-02-13 08:19:26" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000174756" "00173866" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000174782" "00173892" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000234562" "00233463" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234563" "00233464" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234564" "00233465" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234565" "00233466" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234566" "00233467" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234567" "00233468" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234568" "00233469" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234569" "00233470" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234570" "00233471" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000292971" "00291803" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315087" "00313914" "1" "00006" "00006" "2020-10-07 13:00:28" "" "" "SEQ" "DNA" "" "" "0000315088" "00313915" "1" "00006" "00006" "2020-10-07 13:07:01" "" "" "SEQ" "DNA" "" "" "0000315089" "00313916" "1" "00006" "00006" "2020-10-07 13:17:33" "" "" "SEQ" "DNA" "" "" "0000315090" "00313917" "1" "00006" "00006" "2020-10-07 13:21:09" "" "" "SEQ" "DNA" "" "" "0000315091" "00313918" "1" "00006" "00006" "2020-10-07 13:23:41" "" "" "SEQ" "DNA" "" "" "0000315092" "00313919" "1" "00006" "00006" "2020-10-07 13:29:34" "" "" "SEQ" "DNA" "" "" "0000315093" "00313920" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315094" "00313921" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315095" "00313922" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315096" "00313923" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315097" "00313924" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315098" "00313925" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315099" "00313926" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315100" "00313927" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315101" "00313928" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315102" "00313929" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315103" "00313930" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315104" "00313931" "1" "00006" "00006" "2020-10-07 13:39:09" "" "" "SEQ" "DNA" "" "" "0000315106" "00313933" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315107" "00313934" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315108" "00313935" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315109" "00313936" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315110" "00313937" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315111" "00313938" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315112" "00313939" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315113" "00313940" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315114" "00313941" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000315115" "00313942" "1" "00006" "00006" "2020-10-07 14:44:30" "" "" "SEQ" "DNA" "" "" "0000329629" "00328415" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000333439" "00332219" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000336860" "00335632" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336861" "00335633" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336862" "00335634" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336863" "00335635" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000370184" "00368956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373861" "00372629" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373933" "00372701" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373956" "00372724" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373968" "00372736" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373975" "00372743" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000380599" "00379399" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "arraySEQ;PCR;SEQ" "DNA" "blood" "" "0000380625" "00379425" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000382257" "00381043" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382268" "00381054" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000383714" "00382500" "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" "0000387400" "00386171" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000394703" "00393455" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000411606" "00410334" "1" "04178" "04178" "2022-05-24 13:08:38" "04178" "2022-05-24 13:25:28" "SEQ-NG" "DNA" "blood" "specific hereditary eye disease enrichment panel followed by Sanger sequencing" "0000428249" "00426929" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000033155" "ABCA4" "0000033155" "CA4" "0000033155" "RP2" "0000033158" "CA4" "0000033194" "CA4" "0000033194" "PDE6B" "0000033194" "TOPORS" "0000033195" "CA4" "0000033195" "GUCA1B" "0000033195" "RGR" "0000033234" "CA4" "0000033234" "ELOVL4" "0000174756" "MERTK" "0000174782" "MERTK" "0000234562" "CA4" "0000234563" "CA4" "0000234564" "CA4" "0000234565" "CA4" "0000234566" "CA4" "0000234567" "CA4" "0000234568" "CA4" "0000234569" "CA4" "0000234570" "CA4" "0000315087" "CA4" "0000315088" "CA4" "0000315089" "CA4" "0000315090" "CA4" "0000315091" "CA4" "0000315092" "CA4" "0000315093" "CA4" "0000315094" "CA4" "0000315095" "CA4" "0000315096" "CA4" "0000315097" "CA4" "0000315098" "CA4" "0000315099" "CA4" "0000315100" "CA4" "0000315101" "CA4" "0000315102" "CA4" "0000315103" "CA4" "0000315104" "CA4" "0000315106" "CA4" "0000315107" "CA4" "0000315108" "CA4" "0000315109" "CA4" "0000315110" "CA4" "0000315111" "CA4" "0000315112" "CA4" "0000315113" "CA4" "0000315114" "CA4" "0000315115" "CA4" "0000329629" "CA4" "0000336860" "CA4" "0000336861" "CA4" "0000336862" "CA4" "0000336863" "CA4" "0000370184" "ABCA4" "0000380599" "ABCA4" "0000380625" "CA4" "0000382257" "USH2A" "0000382268" "CA4" "0000383714" "CA4" "0000387400" "ABCA4" "0000394703" "CA4" "0000411606" "CA4" "0000411606" "PDE6A" "0000428249" "CRB1" ## 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 = 99 "{{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}}" "0000059589" "1" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00229" "CA4_000001" "g.58235763G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.60158402G>A" "" "benign" "" "0000059590" "1" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00229" "CA4_000001" "g.58235763G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.60158402G>A" "" "benign" "" "0000059591" "1" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00229" "CA4_000001" "g.58235763G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.60158402G>A" "" "benign" "" "0000059592" "1" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00229" "CA4_000001" "g.58235763G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.60158402G>A" "" "benign" "" "0000059593" "1" "10" "17" "58236715" "58236715" "subst" "0.000964509" "00229" "CA4_000002" "g.58236715C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.60159354C>T" "" "benign" "" "0000253541" "0" "10" "17" "58234012" "58234012" "subst" "0.00341495" "01943" "CA4_000006" "g.58234012A>G" "" "" "" "CA4(NM_000717.4):c.204A>G (p.G68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60156651A>G" "" "benign" "" "0000263900" "0" "10" "17" "58227390" "58227390" "subst" "0.000698821" "02330" "CA4_000003" "g.58227390C>G" "" "" "" "CA4(NM_000717.5):c.-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60150029C>G" "" "benign" "" "0000263901" "0" "10" "17" "58233976" "58233976" "subst" "1.21819E-5" "02330" "CA4_000005" "g.58233976C>T" "" "" "" "CA4(NM_000717.5):c.168C>T (p.I56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60156615C>T" "" "benign" "" "0000263902" "0" "10" "17" "58234066" "58234066" "subst" "0.000357404" "02330" "CA4_000008" "g.58234066C>T" "" "" "" "CA4(NM_000717.4):c.258C>T (p.N86=), CA4(NM_000717.5):c.258C>T (p.N86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60156705C>T" "" "benign" "" "0000263903" "0" "30" "17" "58234067" "58234067" "subst" "3.65562E-5" "02330" "CA4_000009" "g.58234067G>A" "" "" "" "CA4(NM_000717.5):c.259G>A (p.G87R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60156706G>A" "" "likely benign" "" "0000263904" "0" "10" "17" "58235128" "58235128" "subst" "0.000674418" "02330" "CA4_000010" "g.58235128G>A" "" "" "" "CA4(NM_000717.4):c.492G>A (p.A164=), CA4(NM_000717.5):c.492G>A (p.A164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60157767G>A" "" "benign" "" "0000263905" "0" "30" "17" "58227471" "58227471" "subst" "0.000710105" "02330" "CA4_000004" "g.58227471G>C" "" "" "" "CA4(NM_000717.5):c.58+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60150110G>C" "" "likely benign" "" "0000263906" "0" "10" "17" "58235507" "58235507" "subst" "0.000154763" "02330" "CA4_000011" "g.58235507G>A" "" "" "" "CA4(NM_000717.5):c.580+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60158146G>A" "" "benign" "" "0000263907" "0" "10" "17" "58236653" "58236653" "subst" "0.000397894" "02330" "CA4_000012" "g.58236653T>C" "" "" "" "CA4(NM_000717.4):c.807T>C (p.N269=), CA4(NM_000717.5):c.807T>C (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60159292T>C" "" "benign" "" "0000272381" "0" "50" "17" "58234017" "58234017" "subst" "4.06058E-5" "01943" "CA4_000007" "g.58234017T>G" "" "" "" "CA4(NM_000717.4):c.209T>G (p.F70C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60156656T>G" "" "VUS" "" "0000341955" "0" "50" "17" "58227435" "58227435" "subst" "0.000245629" "02327" "CA4_000013" "g.58227435C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60150074C>T" "" "VUS" "" "0000477270" "0" "50" "17" "58234014" "58234014" "subst" "4.46661E-5" "02591" "CA4_000014" "g.58234014G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121434552" "0" "" "" "g.60156653G>A" "" "VUS" "" "0000477271" "0" "50" "17" "58235051" "58235051" "subst" "0.000320794" "02591" "CA4_000015" "g.58235051A>T" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185658468" "0" "" "" "g.60157690A>T" "" "VUS" "" "0000477272" "0" "10" "17" "58235439" "58235439" "subst" "0.000742554" "02591" "CA4_000016" "g.58235439C>A" "8/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185942554" "0" "" "" "g.60158078C>A" "" "benign" "" "0000477273" "0" "50" "17" "58236586" "58236586" "subst" "7.56866E-5" "02591" "CA4_000017" "g.58236586C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs549334435" "0" "" "" "g.60159225C>T" "" "VUS" "" "0000477274" "0" "50" "17" "58236633" "58236633" "subst" "0" "02591" "CA4_000018" "g.58236633A>G" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.60159272A>G" "" "VUS" "" "0000477275" "0" "50" "17" "58236634" "58236634" "subst" "0" "02591" "CA4_000019" "g.58236634C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.60159273C>G" "" "VUS" "" "0000477276" "0" "50" "17" "58236646" "58236646" "subst" "3.38573E-5" "02591" "CA4_000020" "g.58236646A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187221698" "0" "" "" "g.60159285A>G" "" "VUS" "" "0000477277" "0" "50" "17" "58236648" "58236648" "subst" "0" "02591" "CA4_000021" "g.58236648G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.60159287G>A" "" "VUS" "" "0000477278" "0" "90" "17" "58236783" "58236783" "subst" "0" "02591" "CA4_000022" "g.58236783T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.60159422T>C" "" "pathogenic" "" "0000562493" "0" "50" "17" "58234062" "58234062" "subst" "0" "02330" "CA4_000023" "g.58234062A>C" "" "" "" "CA4(NM_000717.5):c.254A>C (p.N85T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60156701A>C" "" "VUS" "" "0000562494" "0" "30" "17" "58234894" "58234894" "subst" "0.000442625" "01943" "CA4_000024" "g.58234894C>T" "" "" "" "CA4(NM_000717.4):c.375C>T (p.G125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60157533C>T" "" "likely benign" "" "0000562495" "0" "50" "17" "58235440" "58235440" "subst" "0" "02330" "CA4_000025" "g.58235440G>A" "" "" "" "CA4(NM_000717.5):c.532G>A (p.E178K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60158079G>A" "" "VUS" "" "0000562496" "0" "10" "17" "58235724" "58235724" "subst" "0" "02330" "CA4_000026" "g.58235724C>T" "" "" "" "CA4(NM_000717.5):c.661C>T (p.L221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60158363C>T" "" "benign" "" "0000562497" "0" "10" "17" "58235810" "58235810" "subst" "0.000309693" "02330" "CA4_000027" "g.58235810G>A" "" "" "" "CA4(NM_000717.5):c.744+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60158449G>A" "" "benign" "" "0000562498" "0" "50" "17" "58236652" "58236652" "subst" "0" "02330" "CA4_000028" "g.58236652A>T" "" "" "" "CA4(NM_000717.5):c.806A>T (p.N269I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60159291A>T" "" "VUS" "" "0000616721" "0" "50" "17" "58235149" "58235149" "subst" "5.28636E-5" "02327" "CA4_000030" "g.58235149G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60157788G>A" "" "VUS" "" "0000616722" "0" "30" "17" "58236599" "58236599" "subst" "9.45571E-5" "01943" "CA4_000031" "g.58236599A>T" "" "" "" "CA4(NM_000717.4):c.753A>T (p.A251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60159238A>T" "" "likely benign" "" "0000616723" "0" "30" "17" "58236715" "58236715" "subst" "0.000964509" "02330" "CA4_000002" "g.58236715C>T" "" "" "" "CA4(NM_000717.4):c.869C>T (p.P290L), CA4(NM_000717.5):c.869C>T (p.P290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60159354C>T" "" "likely benign" "" "0000616724" "0" "10" "17" "58236802" "58236802" "subst" "0.00193227" "02330" "CA4_000032" "g.58236802G>A" "" "" "" "CA4(NM_000717.5):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60159441G>A" "" "benign" "" "0000623730" "0" "30" "17" "58234015" "58234015" "subst" "0" "02330" "CA4_000029" "g.58234015C>T" "" "" "" "CA4(NM_000717.5):c.207C>T (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60156654C>T" "" "likely benign" "" "0000623731" "0" "30" "17" "58236653" "58236653" "subst" "0.000397894" "01943" "CA4_000012" "g.58236653T>C" "" "" "" "CA4(NM_000717.4):c.807T>C (p.N269=), CA4(NM_000717.5):c.807T>C (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60159292T>C" "" "likely benign" "" "0000649660" "1" "30" "17" "58235763" "58235763" "subst" "0.0100845" "03575" "CA4_000001" "g.58235763G>A" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs117704637}" "Germline" "" "rs117704637" "0" "" "" "g.60158402G>A" "" "likely benign" "" "0000680943" "0" "30" "17" "58236699" "58236699" "subst" "0.000113082" "01943" "CA4_000033" "g.58236699G>A" "" "" "" "CA4(NM_000717.4):c.853G>A (p.G285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697159" "1" "90" "17" "58227435" "58227435" "subst" "0.000245629" "00006" "CA4_000013" "g.58227435C>T" "" "{PMID:Rebello 2004:15090652}" "" "" "" "Germline" "yes" "" "0" "" "" "g.60150074C>T" "" "pathogenic (dominant)" "" "0000697160" "1" "90" "17" "58227435" "58227435" "subst" "0.000245629" "00006" "CA4_000013" "g.58227435C>T" "" "{PMID:Yang 2005:15563508}" "" "" "" "Germline" "yes" "" "0" "" "" "g.60150074C>T" "" "pathogenic (dominant)" "" "0000697161" "1" "90" "17" "58235718" "58235718" "subst" "0" "00006" "CA4_000034" "g.58235718C>A" "" "{PMID:Yang 2005:15563508}" "" "" "" "Germline" "yes" "" "0" "" "" "g.60158357C>A" "" "pathogenic (dominant)" "" "0000697162" "1" "50" "17" "58236844" "58236844" "subst" "0" "00006" "CA4_000035" "g.58236844G>A" "" "" "" "" "variant may affect CA4-expression levels" "Germline" "yes" "" "0" "" "" "g.60159483G>A" "" "VUS" "" "0000697163" "1" "50" "17" "58236844" "58236844" "subst" "0" "00006" "CA4_000035" "g.58236844G>A" "" "{PMID:Yang 2005:15563508}" "" "" "variant may affect CA4-expression levels" "Germline" "" "" "0" "" "" "g.60159483G>A" "" "VUS" "" "0000697164" "0" "90" "17" "58234014" "58234014" "subst" "4.46661E-5" "00006" "CA4_000014" "g.58234014G>A" "" "{PMID:Alvarez 2007:17652713}" "" "" "not in 432 control chromosomes" "Germline/De novo (untested)" "" "" "0" "" "" "g.60156653G>A" "" "likely pathogenic (dominant)" "" "0000697165" "0" "10" "17" "58227372" "58227372" "subst" "0.00980613" "00006" "CA4_000036" "g.58227372G>C" "9/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60150011G>C" "" "benign" "" "0000697166" "0" "10" "17" "58227525" "58227525" "subst" "0" "00006" "CA4_000037" "g.58227525G>T" "14/96 cases" "{PMID:Alvarez 2007:17652713}" "" "IVS1+72G>T" "" "Germline" "" "" "0" "" "" "g.60150164G>T" "" "benign" "" "0000697167" "0" "10" "17" "58227598" "58227598" "subst" "0" "00006" "CA4_000038" "g.58227598C>G" "9/96 cases" "{PMID:Alvarez 2007:17652713}" "" "IVS1+145C>G" "" "Germline" "" "" "0" "" "" "g.60150237C>G" "" "benign" "" "0000697168" "0" "10" "17" "58227535" "58227535" "subst" "0" "00006" "CA4_000039" "g.58227535C>T" "1/96 cases" "{PMID:Alvarez 2007:17652713}" "" "IVS1+82C>T" "" "Germline" "" "" "0" "" "" "g.60150174C>T" "" "benign" "" "0000697169" "0" "10" "17" "58234154" "58234154" "subst" "0" "00006" "CA4_000040" "g.58234154A>T" "6/96 cases, 21/216 controls" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60156793A>T" "" "benign" "" "0000697170" "0" "10" "17" "58235012" "58235012" "subst" "0.000146191" "00006" "CA4_000041" "g.58235012C>G" "2/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60157651C>G" "" "benign" "" "0000697171" "0" "10" "17" "58235071" "58235071" "subst" "0.000154307" "00006" "CA4_000042" "g.58235071A>G" "1/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60157710A>G" "" "benign" "" "0000697172" "0" "10" "17" "58235343" "58235343" "subst" "0" "00006" "CA4_000043" "g.58235343C>T" "7/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60157982C>T" "" "benign" "" "0000697173" "0" "10" "17" "58235439" "58235439" "subst" "0.000742554" "00006" "CA4_000016" "g.58235439C>A" "4/96 cases, 2/44 controls" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60158078C>A" "" "benign" "" "0000697174" "0" "10" "17" "58235673" "58235673" "subst" "4.06154E-6" "00006" "CA4_000044" "g.58235673C>T" "1/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "" "g.60158312C>T" "" "benign" "" "0000697175" "0" "10" "17" "58235825" "58235825" "subst" "0.000131268" "00006" "CA4_000045" "g.58235825C>T" "1/96 cases" "{PMID:Alvarez 2007:17652713}" "" "" "" "Germline" "" "" "0" "" "IVS7+18C>T" "g.60158464C>T" "" "benign" "" "0000697176" "0" "10" "17" "58236563" "58236563" "subst" "0.00129246" "00006" "CA4_000046" "g.58236563G>T" "1/96 cases" "{PMID:Alvarez 2007:17652713}" "" "IVS7-28G>T" "" "Germline" "" "" "0" "" "" "g.60159202G>T" "" "benign" "" "0000697178" "0" "90" "17" "58235718" "58235718" "subst" "0" "00006" "CA4_000034" "g.58235718C>A" "" "{PMID:Datta 2009:19211803}" "" "" "expression cloning shows drastically reduced enzyme activity, defective protein processing, impaired trafficking to cell surface resulting in abnormal intracellular retention" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000697179" "0" "90" "17" "58234014" "58234014" "subst" "4.46661E-5" "00006" "CA4_000014" "g.58234014G>A" "" "{PMID:Datta 2009:19211803}" "" "" "expression cloning shows minimal effect on enzyme activity, defective protein processing, impaired trafficking to cell surface resulting in abnormal intracellular retention" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000697180" "0" "70" "17" "58227435" "58227435" "subst" "0.000245629" "00006" "CA4_000013" "g.58227435C>T" "" "{PMID:Pandor 2010:20626030}" "" "" "expression cloning COS-7 cells shows protein retained in endoplasmatic reticulum, partially reduced protein processing and S and G2/M cell-cycle block; effects not seen in HEK293 cells" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000697181" "0" "10" "17" "58227372" "58227372" "subst" "0.00980613" "00006" "CA4_000036" "g.58227372G>C" "7/116 cases, 1/263 controls" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60150011G>C" "" "benign" "" "0000697182" "0" "90" "17" "58227429" "58227429" "subst" "0" "00006" "CA4_000047" "g.58227429G>A" "1/116 cases" "{PMID:Tian 2010:20450258}" "" "80G>A (A12T)" "" "De novo" "" "" "0" "" "" "g.60150068G>A" "" "pathogenic (dominant)" "" "0000697183" "0" "10" "17" "58227525" "58227525" "subst" "0" "00006" "CA4_000037" "g.58227525G>T" "8/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60150164G>T" "" "benign" "" "0000697184" "0" "10" "17" "58227598" "58227598" "subst" "0" "00006" "CA4_000038" "g.58227598C>G" "6/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60150237C>G" "" "benign" "" "0000697185" "0" "90" "17" "58234014" "58234014" "subst" "4.46661E-5" "00006" "CA4_000014" "g.58234014G>A" "1/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60156653G>A" "" "pathogenic (dominant)" "" "0000697186" "0" "10" "17" "58233852" "58233852" "subst" "0" "00006" "CA4_000048" "g.58233852G>C" "1/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60156491G>C" "" "benign" "" "0000697187" "0" "10" "17" "58234154" "58234154" "subst" "0" "00006" "CA4_000040" "g.58234154A>T" "4/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60156793A>T" "" "benign" "" "0000697188" "0" "10" "17" "58235427" "58235427" "subst" "0" "00006" "CA4_000050" "g.58235427A>C" "1/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60158066A>C" "" "benign" "" "0000697189" "0" "10" "17" "58235439" "58235439" "subst" "0.000742554" "00006" "CA4_000016" "g.58235439C>A" "6/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60158078C>A" "" "benign" "" "0000697190" "0" "10" "17" "58236874" "58236874" "subst" "0" "00006" "CA4_000049" "g.58236874G>A" "1/116 cases" "{PMID:Tian 2010:20450258}" "" "" "" "Germline" "" "" "0" "" "" "g.60159513G>A" "" "benign" "" "0000713977" "1" "70" "17" "58232690" "58232690" "subst" "1.65795E-5" "00000" "CA4_000051" "g.58232690A>G" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.60155329A>G" "" "likely pathogenic (dominant)" "" "0000726553" "0" "30" "17" "58235128" "58235128" "subst" "0.000674418" "01943" "CA4_000010" "g.58235128G>A" "" "" "" "CA4(NM_000717.4):c.492G>A (p.A164=), CA4(NM_000717.5):c.492G>A (p.A164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726554" "0" "50" "17" "58235763" "58235763" "subst" "0" "02330" "CA4_000052" "g.58235763G>T" "" "" "" "CA4(NM_000717.5):c.700G>T (p.V234F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731014" "1" "70" "17" "58236607" "58236607" "subst" "0.000206741" "00000" "CA4_000053" "g.58236607A>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs150432787" "0" "" "" "g.60159246A>C" "" "likely pathogenic (dominant)" "" "0000736398" "1" "10" "17" "58235656" "58235656" "subst" "2.0313E-5" "00008" "CA4_000054" "g.58235656C>T" "" "{PMID:Sullivan 2006:16799052}" "" "593C>T" ".96/.04 in African control subjects" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000736399" "1" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00008" "CA4_000001" "g.58235763G>A" "" "{PMID:Sullivan 2006:16799052}" "" "700G>A" "In one control" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000736400" "1" "10" "17" "58235772" "58235772" "subst" "0.000686702" "00008" "CA4_000055" "g.58235772G>T" "" "{PMID:Sullivan 2006:16799052}" "" "709G>T" ".98/.02 in African control subjects" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000736401" "1" "10" "17" "58235779" "58235779" "subst" "0.00211003" "00008" "CA4_000056" "g.58235779G>A" "" "{PMID:Sullivan 2006:16799052}" "" "716G>A" ".95/.05 in African control subjects" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000784153" "0" "50" "17" "58235051" "58235051" "subst" "0.000320794" "00000" "CA4_000015" "g.58235051A>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185658468" "0" "" "" "g.60157690A>T" "" "VUS" "" "0000784281" "0" "50" "17" "58235051" "58235051" "subst" "0.000320794" "00000" "CA4_000015" "g.58235051A>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185658468" "0" "" "" "g.60157690A>T" "" "VUS" "" "0000784288" "0" "50" "17" "58235439" "58235439" "subst" "0.000742554" "00000" "CA4_000016" "g.58235439C>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185942554" "0" "" "" "g.60158078C>A" "" "VUS" "" "0000784412" "0" "70" "17" "58235439" "58235439" "subst" "0.000742554" "00000" "CA4_000016" "g.58235439C>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185942554" "0" "" "" "g.60158078C>A" "" "likely pathogenic (recessive)" "" "0000784420" "0" "50" "17" "58236769" "58236769" "subst" "0.000243038" "00000" "CA4_000057" "g.58236769C>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201580764" "0" "" "" "g.60159408C>A" "" "VUS" "" "0000784506" "0" "50" "17" "58235439" "58235439" "subst" "0.000742554" "00000" "CA4_000016" "g.58235439C>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185942554" "0" "" "" "g.60158078C>A" "" "VUS" "" "0000790394" "1" "70" "17" "58235763" "58235763" "subst" "0.0100845" "00000" "CA4_000001" "g.58235763G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790397" "1" "90" "17" "58234006" "58234007" "delins" "0" "00000" "CA4_000058" "g.58234006_58234007delinsG" "" "{PMID:Wang 2014:25097241}" "" "198_199delACinsG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793746" "0" "10" "17" "58235763" "58235763" "subst" "0.0100845" "00000" "CA4_000001" "g.58235763G>A" "4.60% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.700G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000793777" "0" "70" "17" "58232690" "58232690" "subst" "1.65795E-5" "00000" "CA4_000051" "g.58232690A>G" "" "{PMID:Zhou-2011:21677794}" "" "c.74A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795994" "0" "50" "17" "58235788" "58235788" "subst" "2.43936E-5" "00000" "CA4_000059" "g.58235788T>C" "" "{PMID:Chen-2013:23661368}" "" "c.725T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000796011" "0" "50" "17" "58236646" "58236646" "subst" "3.38573E-5" "00000" "CA4_000020" "g.58236646A>G" "" "{PMID:Chen-2013:23661368}" "" "c.800A>G" "" "Unknown" "" "rs187221698" "0" "" "" "" "" "VUS" "" "0000797952" "0" "50" "17" "58235749" "58235749" "subst" "4.06131E-6" "00000" "CA4_000060" "g.58235749G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CA4 c.686G>A, p.(Cys229Tyr)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.60158388G>A" "" "VUS" "ACMG" "0000815448" "0" "50" "17" "58236681" "58236681" "subst" "3.01311E-5" "00000" "CA4_000061" "g.58236681C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CA4:NM_000717 c.C835T, p.R279C" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.60159320C>T" "" "VUS" "ACMG" "0000825688" "0" "70" "17" "58234051" "58234051" "subst" "0" "00000" "CA4_000062" "g.58234051G>A" "" "{PMID:Liu-2020:33090715}" "" "c.243G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000865394" "0" "30" "17" "58234066" "58234066" "subst" "0.000357404" "01943" "CA4_000008" "g.58234066C>T" "" "" "" "CA4(NM_000717.4):c.258C>T (p.N86=), CA4(NM_000717.5):c.258C>T (p.N86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868788" "20" "70" "17" "58234051" "58234051" "subst" "0" "04178" "CA4_000062" "g.58234051G>A" "1/8 patients" "{PMID:Li 2022:35033039}, {DOI:Li 2022:10.1186/s12886-021-02242-5}" "" "" "not in 100 controls" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000894073" "0" "50" "17" "58232697" "58232697" "subst" "0" "02330" "CA4_000063" "g.58232697T>A" "" "" "" "CA4(NM_000717.5):c.81T>A (p.V27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905934" "0" "50" "17" "58233970" "58233970" "subst" "8.12123E-6" "00000" "CA4_000064" "g.58233970C>G" "" "{PMID:Zhu 2022:35456422}" "" "CA4 c.162C>G, p.(Ile54Met)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.60156609C>G" "" "VUS" "ACMG" "0000926588" "0" "50" "17" "58232728" "58232728" "subst" "0" "02330" "CA4_000065" "g.58232728G>A" "" "" "" "CA4(NM_000717.5):c.112G>A (p.V38M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026997" "0" "50" "17" "58236715" "58236715" "subst" "0.000964509" "01943" "CA4_000002" "g.58236715C>T" "" "" "" "CA4(NM_000717.4):c.869C>T (p.P290L), CA4(NM_000717.5):c.869C>T (p.P290L)" "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 CA4 ## Count = 99 "{{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}}" "0000059589" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000059590" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000059591" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000059592" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000059593" "00004205" "10" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "8" "0000253541" "00004205" "10" "204" "0" "204" "0" "c.204A>G" "r.(?)" "p.(Gly68=)" "" "0000263900" "00004205" "10" "-6" "0" "-6" "0" "c.-6C>G" "r.(?)" "p.(=)" "" "0000263901" "00004205" "10" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ile56=)" "" "0000263902" "00004205" "10" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Asn86=)" "" "0000263903" "00004205" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Gly87Arg)" "" "0000263904" "00004205" "10" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Ala164=)" "" "0000263905" "00004205" "30" "58" "18" "58" "18" "c.58+18G>C" "r.(=)" "p.(=)" "" "0000263906" "00004205" "10" "580" "19" "580" "19" "c.580+19G>A" "r.(=)" "p.(=)" "" "0000263907" "00004205" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Asn269=)" "" "0000272381" "00004205" "50" "209" "0" "209" "0" "c.209T>G" "r.(?)" "p.(Phe70Cys)" "" "0000341955" "00004205" "50" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0000477270" "00004205" "50" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000477271" "00004205" "50" "415" "0" "415" "0" "c.415A>T" "r.(?)" "p.(Met139Leu)" "" "0000477272" "00004205" "10" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "" "0000477273" "00004205" "50" "745" "-5" "745" "-5" "c.745-5C>T" "r.spl?" "p.?" "" "0000477274" "00004205" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Thr263Ala)" "" "0000477275" "00004205" "50" "788" "0" "788" "0" "c.788C>G" "r.(?)" "p.(Thr263Arg)" "" "0000477276" "00004205" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Lys267Arg)" "" "0000477277" "00004205" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Asp268Asn)" "" "0000477278" "00004205" "90" "937" "0" "937" "0" "c.937T>C" "r.(?)" "p.(*313Argext*?)" "" "0000562493" "00004205" "50" "254" "0" "254" "0" "c.254A>C" "r.(?)" "p.(Asn85Thr)" "" "0000562494" "00004205" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Gly125=)" "" "0000562495" "00004205" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Glu178Lys)" "" "0000562496" "00004205" "10" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Leu221=)" "" "0000562497" "00004205" "10" "744" "3" "744" "3" "c.744+3G>A" "r.spl?" "p.?" "" "0000562498" "00004205" "50" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asn269Ile)" "" "0000616721" "00004205" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Glu171=)" "" "0000616722" "00004205" "30" "753" "0" "753" "0" "c.753A>T" "r.(?)" "p.(Ala251=)" "" "0000616723" "00004205" "30" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "" "0000616724" "00004205" "10" "956" "0" "956" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "0000623730" "00004205" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Arg69=)" "" "0000623731" "00004205" "30" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Asn269=)" "" "0000649660" "00004205" "30" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "" "0000680943" "00004205" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Gly285Arg)" "" "0000697159" "00004205" "90" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0000697160" "00004205" "90" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0000697161" "00004205" "90" "655" "0" "655" "0" "c.655C>A" "r.(?)" "p.(Arg219Ser)" "" "0000697162" "00004205" "50" "998" "0" "998" "0" "c.*59G>A" "r.(?)" "p.(?)" "" "0000697163" "00004205" "50" "998" "0" "998" "0" "c.*59G>A" "r.(?)" "p.(?)" "" "0000697164" "00004205" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000697165" "00004205" "10" "-24" "0" "-24" "0" "c.-24G>C" "r.(?)" "p.(=)" "" "0000697166" "00004205" "10" "58" "72" "58" "72" "c.58+72G>T" "r.(?)" "p.(=)" "" "0000697167" "00004205" "10" "58" "145" "58" "145" "c.58+145C>G" "r.(?)" "p.(=)" "" "0000697168" "00004205" "10" "58" "82" "58" "82" "c.58+82C>T" "r.(?)" "p.(=)" "1i" "0000697169" "00004205" "10" "268" "78" "268" "78" "c.268+78A>T" "r.(?)" "p.(=)" "3i" "0000697170" "00004205" "10" "415" "-39" "415" "-39" "c.415-39C>G" "r.(?)" "p.(=)" "4i" "0000697171" "00004205" "10" "435" "0" "435" "0" "c.435A>G" "r.(?)" "p.(Lys145=)" "" "0000697172" "00004205" "10" "514" "-79" "514" "-79" "c.514-79C>T" "r.(?)" "p.(=)" "5i" "0000697173" "00004205" "10" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "" "0000697174" "00004205" "10" "610" "0" "610" "0" "c.610C>T" "r.(=)" "p.(Leu204=)" "" "0000697175" "00004205" "10" "744" "18" "744" "18" "c.744+18C>T" "r.(?)" "p.(=)" "7i" "0000697176" "00004205" "10" "745" "-28" "745" "-28" "c.745-28G>T" "r.(?)" "p.(=)" "7i" "0000697178" "00004205" "90" "655" "0" "655" "0" "c.655C>A" "-" "p.Arg219Ser" "" "0000697179" "00004205" "90" "206" "0" "206" "0" "c.206G>A" "-" "p.Arg69His" "" "0000697180" "00004205" "70" "40" "0" "40" "0" "c.40C>T" "-" "p.Arg14Trp" "" "0000697181" "00004205" "10" "-24" "0" "-24" "0" "c.-24G>C" "r.(?)" "p.(=)" "1" "0000697182" "00004205" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "1" "0000697183" "00004205" "10" "58" "72" "58" "72" "c.58+72G>T" "r.(=)" "p.(=)" "1i" "0000697184" "00004205" "10" "58" "145" "58" "145" "c.58+145C>G" "r.(?)" "p.(=)" "1i" "0000697185" "00004205" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "3" "0000697186" "00004205" "10" "113" "-69" "113" "-69" "c.113-69G>C" "r.(?)" "p.(=)" "2i" "0000697187" "00004205" "10" "268" "78" "268" "78" "c.268+78A>T" "r.(?)" "p.(=)" "3i" "0000697188" "00004205" "10" "519" "0" "519" "0" "c.519A>C" "r.(?)" "p.(Gly173=)" "6" "0000697189" "00004205" "10" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "6" "0000697190" "00004205" "10" "1028" "0" "1028" "0" "c.*89G>A" "r.(?)" "p.(=)" "8" "0000713977" "00004205" "70" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Tyr25Cys)" "" "0000726553" "00004205" "30" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Ala164=)" "" "0000726554" "00004205" "50" "700" "0" "700" "0" "c.700G>T" "r.(?)" "p.(Val234Phe)" "" "0000731014" "00004205" "70" "761" "0" "761" "0" "c.761A>C" "r.(?)" "p.(Gln254Pro)" "" "0000736398" "00004205" "10" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Thr198Met)" "7" "0000736399" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000736400" "00004205" "10" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Val237Leu)" "7" "0000736401" "00004205" "10" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239Gln)" "7" "0000784153" "00004205" "50" "415" "0" "415" "0" "c.415A>T" "r.(?)" "p.(Met139Leu)" "" "0000784281" "00004205" "50" "415" "0" "415" "0" "c.415A>T" "r.(?)" "p.(Met139Leu)" "" "0000784288" "00004205" "50" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "" "0000784412" "00004205" "70" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "" "0000784420" "00004205" "50" "923" "0" "923" "0" "c.923C>A" "r.(?)" "p.(Ala308Asp)" "" "0000784506" "00004205" "50" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Asn177Lys)" "" "0000790394" "00004205" "70" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "" "0000790397" "00004205" "90" "198" "0" "199" "0" "c.198_199delinsG" "r.(?)" "p.(Leu67Trpfs*24)" "" "0000793746" "00004205" "10" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" "7" "0000793777" "00004205" "70" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Tyr25Cys)" "2" "0000795994" "00004205" "50" "725" "0" "725" "0" "c.725T>C" "r.(?)" "p.(Ile242Thr)" "7" "0000796011" "00004205" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Lys267Arg)" "8" "0000797952" "00004205" "50" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Cys229Tyr)" "" "0000815448" "00004205" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "0000825688" "00004205" "70" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Trp81*)" "3" "0000865394" "00004205" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Asn86=)" "" "0000868788" "00004205" "70" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Trp81*)" "" "0000894073" "00004205" "50" "81" "0" "81" "0" "c.81T>A" "r.(?)" "p.(Val27=)" "" "0000905934" "00004205" "50" "162" "0" "162" "0" "c.162C>G" "r.(?)" "p.(Ile54Met)" "" "0000926588" "00004205" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Met)" "" "0001026997" "00004205" "50" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000033155" "0000059593" "0000033158" "0000059589" "0000033194" "0000059590" "0000033195" "0000059591" "0000033234" "0000059592" "0000174756" "0000784153" "0000174782" "0000790397" "0000234562" "0000477270" "0000234563" "0000477271" "0000234564" "0000477272" "0000234565" "0000477273" "0000234566" "0000477274" "0000234567" "0000477275" "0000234568" "0000477276" "0000234569" "0000477277" "0000234570" "0000477278" "0000292971" "0000649660" "0000315087" "0000697159" "0000315088" "0000697160" "0000315089" "0000697161" "0000315090" "0000697162" "0000315091" "0000697163" "0000315092" "0000697164" "0000315093" "0000697165" "0000315094" "0000697166" "0000315095" "0000697167" "0000315096" "0000697168" "0000315097" "0000697169" "0000315098" "0000697170" "0000315099" "0000697171" "0000315100" "0000697172" "0000315101" "0000697173" "0000315102" "0000697174" "0000315103" "0000697175" "0000315104" "0000697176" "0000315106" "0000697181" "0000315107" "0000697182" "0000315108" "0000697183" "0000315109" "0000697184" "0000315110" "0000697185" "0000315111" "0000697186" "0000315112" "0000697187" "0000315113" "0000697188" "0000315114" "0000697189" "0000315115" "0000697190" "0000329629" "0000713977" "0000333439" "0000731014" "0000336860" "0000736398" "0000336861" "0000736399" "0000336862" "0000736400" "0000336863" "0000736401" "0000370184" "0000790394" "0000373861" "0000784420" "0000373933" "0000784412" "0000373956" "0000784506" "0000373968" "0000784281" "0000373975" "0000784288" "0000380599" "0000793746" "0000380625" "0000793777" "0000382257" "0000795994" "0000382268" "0000796011" "0000383714" "0000797952" "0000387400" "0000815448" "0000394703" "0000825688" "0000411606" "0000868788" "0000428249" "0000905934"