### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FSCN2)
# 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}}"
"FSCN2" "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)" "17" "q25" "unknown" "NG_015964.1" "UD_132085322744" "" "https://www.LOVD.nl/FSCN2" "" "1" "3960" "25794" "607643" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FSCN2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2018-07-30 21:45:28" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00025303" "FSCN2" "transcript variant 2" "003" "NM_001077182.2" "" "NP_001070650.1" "" "" "" "-141" "1601" "1551" "79495417" "79504156" "00006" "2018-07-30 21:43:24" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02722" "RP30" "retinitis pigmentosa, type 30 (RP30)" "" "607921" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FSCN2" "02722"
## Individuals ## Do not remove or alter this header ##
## Count = 60
"{{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}}"
"00170850" "" "" "" "1" "" "00244" "Manuscript under review (González-del Pozo et al., 2018)" "" "F" "?" "Spain" "" "0" "" "" "" "IRD4.0_#7"
"00233477" "" "" "" "20" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233478" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233479" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233480" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233481" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233482" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233483" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233484" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233485" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233486" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233487" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233488" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233489" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233490" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233491" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233492" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1199 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233493" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233494" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233495" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233496" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233497" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233798" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00291893" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291894" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308418" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}" "" "" "" "France" "" "0" "" "" "" "CIC05379"
"00309669" "" "" "" "1" "" "00006" "{PMID:Jinda 2014:24618324}" "" "M" "" "Thailand" "" "0" "" "" "" "RP016"
"00320041" "" "" "" "14" "" "00008" "{PMID:Wada 2003:14661542}" "" "" "" "" "" "0" "" "" "Japanese" ""
"00326687" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" ""
"00333352" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat5"
"00333360" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14"
"00334418" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-149"
"00334559" "" "" "" "1" "" "00000" "{PMID:Jinda 2017:28453600}" "patient" "" "" "Thailand" "" "0" "" "" "" "RP016"
"00335303" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat48"
"00335638" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335639" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335640" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335641" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335642" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335975" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00373479" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1684"
"00375418" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#010"
"00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028"
"00376771" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "35"
"00376772" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "36"
"00376790" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "57"
"00379399" "" "" "" "1" "" "00000" "{PMID:Simpson-2011:21147909}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00380098" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380994" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" ""
"00381599" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Poland" "" "0" "" "" "" ""
"00381618" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" ""
"00381623" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381639" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Turkey" "" "0" "" "" "" ""
"00381681" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Germany" "" "0" "" "" "" ""
"00381683" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "" "" "0" "" "" "" ""
"00381688" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00382635" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "C (II:1)"
"00386164" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-108, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-253"
"00386190" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-144, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-304"
"00388501" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "43844"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 60
"{{individualid}}" "{{diseaseid}}"
"00170850" "04214"
"00233477" "04214"
"00233478" "04214"
"00233479" "04214"
"00233480" "04214"
"00233481" "04214"
"00233482" "04214"
"00233483" "04214"
"00233484" "04214"
"00233485" "04214"
"00233486" "04214"
"00233487" "04214"
"00233488" "04214"
"00233489" "04214"
"00233490" "04214"
"00233491" "04214"
"00233492" "04214"
"00233493" "04214"
"00233494" "04214"
"00233495" "04214"
"00233496" "04214"
"00233497" "04214"
"00233798" "04214"
"00291893" "00198"
"00291894" "00198"
"00308418" "04214"
"00309669" "04214"
"00320041" "04214"
"00326687" "04214"
"00333352" "04214"
"00333360" "04214"
"00334418" "04214"
"00334559" "04214"
"00335303" "04214"
"00335638" "04214"
"00335639" "04214"
"00335640" "04214"
"00335641" "04214"
"00335642" "04214"
"00335975" "04214"
"00373479" "04214"
"00375418" "04214"
"00375433" "04214"
"00376771" "04214"
"00376772" "04214"
"00376790" "04214"
"00379399" "04214"
"00380098" "04214"
"00380994" "04214"
"00381599" "04214"
"00381618" "04214"
"00381623" "04214"
"00381639" "04214"
"00381681" "04214"
"00381683" "04214"
"00381688" "04214"
"00382635" "04214"
"00386164" "04214"
"00386190" "04214"
"00388501" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02722, 04214
## Count = 36
"{{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}}"
"0000135711" "04214" "00170850" "00244" "Isolated (sporadic)" "69y" "" "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000233845" "04214" "00308418" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000234988" "04214" "00309669" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000242085" "04214" "00320041" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" ""
"0000245153" "04214" "00326687" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" ""
"0000251539" "04214" "00333352" "00000" "Familial, autosomal recessive" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251547" "04214" "00333360" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252507" "04214" "00334418" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252599" "04214" "00334559" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253018" "04214" "00335303" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253558" "04214" "00335638" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253559" "04214" "00335639" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253560" "04214" "00335640" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253561" "04214" "00335641" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253562" "04214" "00335642" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253890" "04214" "00335975" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000268755" "04214" "00373479" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270632" "04214" "00375418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271982" "04214" "00376771" "00000" "Familial, autosomal dominant" "64y" "" "" "" "" "" "" "" "" "" "" "Progressive pigmentary retinopathy" ""
"0000271983" "04214" "00376772" "00000" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272001" "04214" "00376790" "00000" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000273272" "04214" "00379399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000273952" "04214" "00380098" "00000" "Unknown" "95y" "Reticular pseudodrusen and some soft drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000274845" "04214" "00380994" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000275441" "04214" "00381599" "00000" "Isolated (sporadic)" "" "" "28y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275460" "04214" "00381618" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275465" "04214" "00381623" "00000" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275481" "04214" "00381639" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275523" "04214" "00381681" "00000" "Isolated (sporadic)" "" "" "27y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275525" "04214" "00381683" "00000" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275530" "04214" "00381688" "00000" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000276484" "04214" "00382635" "00000" "Isolated (sporadic)" "40y" "additional cataract" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000279967" "04214" "00386164" "00000" "Familial, autosomal dominant" "57y" "" "" "40y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000279993" "04214" "00386190" "00000" "Familial, autosomal dominant" "49y" "" "" "49y" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282053" "04214" "00388501" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 60
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000171732" "00170850" "1" "00244" "00244" "2018-07-26 11:17:14" "" "" "SEQ-NG-I" "DNA" "" "Gene Panel (79 IRD genes)"
"0000234576" "00233477" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234577" "00233478" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234578" "00233479" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234579" "00233480" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234580" "00233481" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234581" "00233482" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234582" "00233483" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234583" "00233484" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234584" "00233485" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234585" "00233486" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234586" "00233487" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234587" "00233488" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234588" "00233489" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234589" "00233490" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234590" "00233491" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234591" "00233492" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234592" "00233493" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234593" "00233494" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234594" "00233495" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234595" "00233496" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234596" "00233497" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234897" "00233798" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000293061" "00291893" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293062" "00291894" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309562" "00308418" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel"
"0000310814" "00309669" "1" "00006" "00006" "2020-08-31 18:12:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000321225" "00320041" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "" ""
"0000327900" "00326687" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC" "DNA" "blood" ""
"0000334577" "00333352" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334585" "00333360" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000335647" "00334418" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES"
"0000335788" "00334559" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336532" "00335303" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336866" "00335638" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000336867" "00335639" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000336868" "00335640" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000336869" "00335641" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000336870" "00335642" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000337205" "00335975" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374714" "00373479" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel"
"0000376615" "00375418" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000377977" "00376771" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377978" "00376772" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377996" "00376790" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000380597" "00379399" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "arraySEQ;PCR;SEQ" "DNA" "blood" ""
"0000381299" "00380098" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000382208" "00380994" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay"
"0000382815" "00381599" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382834" "00381618" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382839" "00381623" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382855" "00381639" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382897" "00381681" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382899" "00381683" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382904" "00381688" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000383849" "00382635" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved"
"0000387393" "00386164" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387419" "00386190" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000389742" "00388501" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}" "{{geneid}}"
"0000171732" "ABCA4"
"0000171732" "FSCN2"
"0000234576" "FSCN2"
"0000234577" "FSCN2"
"0000234578" "FSCN2"
"0000234579" "FSCN2"
"0000234580" "FSCN2"
"0000234581" "FSCN2"
"0000234582" "FSCN2"
"0000234583" "FSCN2"
"0000234584" "FSCN2"
"0000234585" "FSCN2"
"0000234586" "FSCN2"
"0000234587" "FSCN2"
"0000234588" "FSCN2"
"0000234589" "FSCN2"
"0000234590" "FSCN2"
"0000234591" "FSCN2"
"0000234592" "FSCN2"
"0000234593" "FSCN2"
"0000234594" "FSCN2"
"0000234595" "FSCN2"
"0000234596" "FSCN2"
"0000234897" "FSCN2"
"0000309562" "FSCN2"
"0000310814" "FSCN2"
"0000321225" "FSCN2"
"0000327900" "FSCN2"
"0000334577" "CRB1"
"0000334585" "NR2E3"
"0000335647" "FSCN2"
"0000335788" "FSCN2"
"0000336532" "FSCN2"
"0000336866" "FSCN2"
"0000336867" "FSCN2"
"0000336868" "FSCN2"
"0000336869" "FSCN2"
"0000336870" "FSCN2"
"0000337205" "FSCN2"
"0000374714" "FSCN2"
"0000380597" "PDE6B"
"0000382208" "C2orf71"
"0000382815" "CRB1"
"0000382834" "TULP1"
"0000382839" "FSCN2"
"0000382855" "CEP290"
"0000382897" "ABCA4"
"0000382899" "FSCN2"
"0000382904" "ABCA4"
"0000383849" "FSCN2"
"0000387393" "RHO"
"0000387419" "PRPH2"
"0000389742" "FSCN2"
## 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 = 250
"{{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}}"
"0000254431" "0" "30" "17" "79477818" "79477818" "subst" "0.0221604" "01943" "ACTG1_000031" "g.79477818A>G" "" "" "" "ACTG1(NM_001199954.2):c.1026T>C (p.G342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510792A>G" "" "likely benign" ""
"0000254942" "0" "30" "17" "79478485" "79478485" "subst" "0.000834874" "01943" "ACTG1_000046" "g.79478485A>G" "" "" "" "ACTG1(NM_001199954.2):c.531T>C (p.R177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511459A>G" "" "likely benign" ""
"0000258916" "0" "10" "17" "79478916" "79478916" "subst" "0.496552" "02325" "ACTG1_000052" "g.79478916G>T" "" "" "" "ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511890G>T" "" "benign" ""
"0000258917" "0" "10" "17" "79478019" "79478019" "subst" "0.788278" "02325" "ACTG1_000018" "g.79478019G>A" "" "" "" "ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510993G>A" "" "benign" ""
"0000259929" "0" "50" "17" "79478295" "79478295" "subst" "0" "02329" "ACTG1_000038" "g.79478295C>G" "" "" "" "ACTG1(NM_001199954.2):c.721G>C (p.E241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511269C>G" "" "VUS" ""
"0000261850" "0" "10" "17" "79479389" "79479389" "subst" "0.00399301" "01943" "ACTG1_000065" "g.79479389G>A" "" "" "" "ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512363G>A" "" "benign" ""
"0000261851" "0" "30" "17" "79477830" "79477830" "subst" "0.0221554" "01943" "ACTG1_000032" "g.79477830C>T" "" "" "" "ACTG1(NM_001199954.2):c.1014G>A (p.S338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510804C>T" "" "likely benign" ""
"0000261852" "0" "30" "17" "79477815" "79477815" "subst" "0.00120665" "01943" "ACTG1_000030" "g.79477815G>A" "" "" "" "ACTG1(NM_001199954.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510789G>A" "" "likely benign" ""
"0000261853" "0" "30" "17" "79477812" "79477812" "subst" "0" "01943" "ACTG1_000029" "g.79477812G>A" "" "" "" "ACTG1(NM_001199954.2):c.1032C>T (p.S344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510786G>A" "" "likely benign" ""
"0000261854" "0" "30" "17" "79477809" "79477809" "subst" "8.12427E-6" "01943" "ACTG1_000028" "g.79477809G>A" "" "" "" "ACTG1(NM_001199954.2):c.1035C>T (p.I345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510783G>A" "" "likely benign" ""
"0000261855" "0" "30" "17" "79477737" "79477737" "subst" "0" "01943" "ACTG1_000026" "g.79477737G>T" "" "" "" "ACTG1(NM_001199954.2):c.1107C>A (p.I369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510711G>T" "" "likely benign" ""
"0000261856" "0" "30" "17" "79477737" "79477737" "subst" "0.000134021" "01943" "ACTG1_000027" "g.79477737G>A" "" "" "" "ACTG1(NM_001199954.2):c.1107C>T (p.I369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510711G>A" "" "likely benign" ""
"0000261857" "0" "30" "17" "79477731" "79477731" "subst" "0.000670111" "01943" "ACTG1_000025" "g.79477731G>A" "" "" "" "ACTG1(NM_001199954.2):c.1113C>T (p.H371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510705G>A" "" "likely benign" ""
"0000261858" "0" "10" "17" "79477716" "79477716" "subst" "0.0221788" "01943" "ACTG1_000024" "g.79477716T>C" "" "" "" "ACTG1(NM_001199954.2):c.1128A>G (p.*376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510690T>C" "" "benign" ""
"0000261859" "0" "30" "17" "79479176" "79479176" "subst" "0.00080974" "01943" "ACTG1_000061" "g.79479176G>A" "" "" "" "ACTG1(NM_001199954.2):c.124-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512150G>A" "" "likely benign" ""
"0000261860" "0" "30" "17" "79479166" "79479166" "subst" "0.000256348" "01943" "ACTG1_000060" "g.79479166G>A" "" "" "" "ACTG1(NM_001199954.2):c.126C>T (p.G42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512140G>A" "" "likely benign" ""
"0000261861" "0" "10" "17" "79479366" "79479366" "subst" "0.00146211" "01943" "ACTG1_000064" "g.79479366G>A" "" "" "" "ACTG1(NM_001199954.2):c.15C>T (p.I5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512340G>A" "" "benign" ""
"0000261862" "0" "30" "17" "79479115" "79479115" "subst" "0.0236459" "01943" "ACTG1_000059" "g.79479115C>T" "" "" "" "ACTG1(NM_001199954.2):c.177G>A (p.Q59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512089C>T" "" "likely benign" ""
"0000261863" "0" "50" "17" "79479112" "79479112" "subst" "0.000227703" "01943" "ACTG1_000058" "g.79479112G>A" "" "" "" "ACTG1(NM_001199954.2):c.180C>T (p.S60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512086G>A" "" "VUS" ""
"0000261864" "0" "30" "17" "79479363" "79479363" "subst" "0.00111281" "01943" "ACTG1_000063" "g.79479363G>A" "" "" "" "ACTG1(NM_001199954.2):c.18C>T (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512337G>A" "" "likely benign" ""
"0000261865" "0" "30" "17" "79479064" "79479064" "subst" "0.000142199" "01943" "ACTG1_000057" "g.79479064G>A" "" "" "" "ACTG1(NM_001199954.2):c.228C>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512038G>A" "" "likely benign" ""
"0000261866" "0" "30" "17" "79479061" "79479061" "subst" "0.000227528" "01943" "ACTG1_000056" "g.79479061G>A" "" "" "" "ACTG1(NM_001199954.2):c.231C>T (p.T77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512035G>A" "" "likely benign" ""
"0000261867" "0" "30" "17" "79479037" "79479037" "subst" "3.24981E-5" "01943" "ACTG1_000054" "g.79479037G>A" "" "" "" "ACTG1(NM_001199954.2):c.255C>T (p.I85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512011G>A" "" "likely benign" ""
"0000261868" "0" "30" "17" "79478983" "79478983" "subst" "1.21929E-5" "01943" "ACTG1_000053" "g.79478983C>T" "" "" "" "ACTG1(NM_001199954.2):c.309G>A (p.V103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511957C>T" "" "likely benign" ""
"0000261869" "0" "10" "17" "79478916" "79478916" "subst" "0.496552" "01943" "ACTG1_000052" "g.79478916G>T" "" "" "" "ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511890G>T" "" "benign" ""
"0000261870" "0" "30" "17" "79478915" "79478915" "subst" "0" "01943" "ACTG1_000051" "g.79478915C>T" "" "" "" "ACTG1(NM_001199954.2):c.363+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511889C>T" "" "likely benign" ""
"0000261871" "0" "30" "17" "79478617" "79478617" "subst" "0.0161175" "01943" "ACTG1_000050" "g.79478617G>A" "" "" "" "ACTG1(NM_001199954.2):c.399C>T (p.Y133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511591G>A" "" "likely benign" ""
"0000261872" "0" "30" "17" "79479342" "79479342" "subst" "0.000926054" "01943" "ACTG1_000062" "g.79479342G>A" "" "" "" "ACTG1(NM_001199954.2):c.39C>T (p.G13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512316G>A" "" "likely benign" ""
"0000261873" "0" "30" "17" "79478602" "79478602" "subst" "0.000562233" "01943" "ACTG1_000049" "g.79478602G>A" "" "" "" "ACTG1(NM_001199954.2):c.414C>T (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511576G>A" "" "likely benign" ""
"0000261874" "0" "30" "17" "79478545" "79478545" "subst" "0.00285551" "01943" "ACTG1_000048" "g.79478545G>A" "" "" "" "ACTG1(NM_001199954.2):c.471C>T (p.D157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511519G>A" "" "likely benign" ""
"0000261875" "0" "30" "17" "79478509" "79478509" "subst" "0" "01943" "ACTG1_000047" "g.79478509G>A" "" "" "" "ACTG1(NM_001199954.2):c.507C>T (p.Y169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511483G>A" "" "likely benign" ""
"0000261876" "0" "30" "17" "79478470" "79478470" "subst" "0.000240253" "01943" "ACTG1_000045" "g.79478470G>A" "" "" "" "ACTG1(NM_001199954.2):c.546C>T (p.G182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511444G>A" "" "likely benign" ""
"0000261877" "0" "30" "17" "79478452" "79478452" "subst" "0.000174942" "01943" "ACTG1_000044" "g.79478452G>A" "" "" "" "ACTG1(NM_001199954.2):c.564C>T (p.Y188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511426G>A" "" "likely benign" ""
"0000261878" "0" "30" "17" "79478422" "79478422" "subst" "4.06597E-6" "01943" "ACTG1_000043" "g.79478422G>A" "" "" "" "ACTG1(NM_001199954.2):c.594C>T (p.Y198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511396G>A" "" "likely benign" ""
"0000261880" "0" "30" "17" "79478332" "79478332" "subst" "0.00225053" "01943" "ACTG1_000041" "g.79478332G>A" "" "" "" "ACTG1(NM_001199954.2):c.684C>T (p.A228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511306G>A" "" "likely benign" ""
"0000261881" "0" "10" "17" "79478323" "79478323" "subst" "0.00126846" "01943" "ACTG1_000040" "g.79478323T>C" "" "" "" "ACTG1(NM_001199954.2):c.693A>G (p.A231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511297T>C" "" "benign" ""
"0000261882" "0" "50" "17" "79478320" "79478322" "del" "0" "01943" "ACTG1_000039" "g.79478320_79478322del" "" "" "" "ACTG1(NM_001199954.2):c.699_701delCTC (p.S235del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511294_81511296del" "" "VUS" ""
"0000261883" "0" "30" "17" "79478287" "79478287" "subst" "0.0168985" "01943" "ACTG1_000037" "g.79478287G>A" "" "" "" "ACTG1(NM_001199954.2):c.729C>T (p.P243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511261G>A" "" "likely benign" ""
"0000261884" "0" "30" "17" "79478199" "79478199" "subst" "4.87936E-5" "01943" "ACTG1_000036" "g.79478199G>A" "" "" "" "ACTG1(NM_001199954.2):c.802+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511173G>A" "" "likely benign" ""
"0000261885" "0" "50" "17" "79478070" "79478070" "subst" "0" "01943" "ACTG1_000035" "g.79478070G>C" "" "" "" "ACTG1(NM_001199954.2):c.867C>G (p.I289M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511044G>C" "" "VUS" ""
"0000261886" "0" "10" "17" "79478019" "79478019" "subst" "0.788278" "01943" "ACTG1_000018" "g.79478019G>A" "" "" "" "ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510993G>A" "" "benign" ""
"0000261887" "0" "50" "17" "79478017" "79478017" "subst" "4.06194E-6" "01943" "ACTG1_000034" "g.79478017G>A" "" "" "" "ACTG1(NM_001199954.2):c.920C>T (p.P307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510991G>A" "" "VUS" ""
"0000261888" "0" "10" "17" "79478007" "79478007" "subst" "0.288175" "01943" "ACTG1_000019" "g.79478007G>A" "" "" "" "ACTG1(NM_001199954.2):c.930C>T (p.A310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510981G>A" "" "benign" ""
"0000268021" "0" "10" "17" "79508395" "79508395" "subst" "0.00231091" "02329" "C17orf70_000002" "g.79508395C>G" "" "" "" "FAAP100(NM_025161.6):c.2454G>C (p.Q818H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81541369C>G" "" "benign" ""
"0000268022" "0" "10" "17" "79507856" "79507856" "subst" "0.0062418" "02329" "C17orf70_000001" "g.79507856T>G" "" "" "" "FAAP100(NM_025161.6):c.2635A>C (p.I879L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81540830T>G" "" "benign" ""
"0000276905" "0" "30" "17" "79504111" "79504111" "subst" "0" "02330" "FSCN2_000015" "g.79504111G>A" "" "" "" "FSCN2(NM_001077182.3):c.*5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81537085G>A" "" "likely benign" ""
"0000276906" "0" "50" "17" "79503213" "79503213" "subst" "9.30101E-5" "02330" "FSCN2_000007" "g.79503213G>A" "" "" "" "FSCN2(NM_001077182.2):c.1025G>A (p.R342Q), FSCN2(NM_001077182.3):c.1025G>A (p.R342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536187G>A" "" "VUS" ""
"0000276907" "0" "30" "17" "79503216" "79503216" "subst" "0" "02330" "FSCN2_000008" "g.79503216T>G" "" "" "" "FSCN2(NM_001077182.3):c.1028T>G (p.V343G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536190T>G" "" "likely benign" ""
"0000276908" "0" "10" "17" "79503280" "79503280" "subst" "0.00143844" "02330" "FSCN2_000010" "g.79503280C>T" "" "" "" "FSCN2(NM_001077182.3):c.1092C>T (p.I364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536254C>T" "" "benign" ""
"0000276909" "0" "10" "17" "79503292" "79503292" "subst" "0" "02330" "FSCN2_000011" "g.79503292C>T" "" "" "" "FSCN2(NM_001077182.3):c.1104C>T (p.V368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536266C>T" "" "benign" ""
"0000276910" "0" "30" "17" "79503566" "79503566" "subst" "5.49934E-6" "02330" "FSCN2_000012" "g.79503566C>T" "" "" "" "FSCN2(NM_001077182.3):c.1106-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536540C>T" "" "likely benign" ""
"0000276911" "0" "10" "17" "79495707" "79495707" "subst" "0.00437311" "02330" "FSCN2_000002" "g.79495707C>G" "" "" "" "FSCN2(NM_001077182.2):c.150C>G (p.P50=), FSCN2(NM_001077182.3):c.150C>G (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528681C>G" "" "benign" ""
"0000276912" "0" "10" "17" "79495914" "79495914" "subst" "0.0013256" "02330" "FSCN2_000003" "g.79495914C>T" "" "" "" "FSCN2(NM_001077182.2):c.357C>T (p.S119=), FSCN2(NM_001077182.3):c.357C>T (p.S119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528888C>T" "" "benign" ""
"0000276913" "0" "10" "17" "79496003" "79496003" "subst" "0.000634846" "02330" "FSCN2_000004" "g.79496003G>A" "" "" "" "FSCN2(NM_001077182.3):c.446G>A (p.R149Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528977G>A" "" "benign" ""
"0000276914" "0" "10" "17" "79496095" "79496095" "subst" "0.00236432" "02330" "FSCN2_000005" "g.79496095C>T" "" "" "" "FSCN2(NM_001077182.3):c.538C>T (p.R180W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81529069C>T" "" "benign" ""
"0000276915" "0" "10" "17" "79502080" "79502080" "subst" "0.000648" "02330" "FSCN2_000006" "g.79502080G>A" "" "" "" "FSCN2(NM_001077182.3):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81535054G>A" "" "benign" ""
"0000287958" "0" "50" "17" "79503213" "79503213" "subst" "9.30101E-5" "01943" "FSCN2_000007" "g.79503213G>A" "" "" "" "FSCN2(NM_001077182.2):c.1025G>A (p.R342Q), FSCN2(NM_001077182.3):c.1025G>A (p.R342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536187G>A" "" "VUS" ""
"0000287959" "0" "50" "17" "79503245" "79503245" "subst" "0.000318846" "01943" "FSCN2_000009" "g.79503245G>A" "" "" "" "FSCN2(NM_001077182.2):c.1057G>A (p.V353M), FSCN2(NM_001077182.3):c.1057G>A (p.V353M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536219G>A" "" "VUS" ""
"0000287960" "0" "30" "17" "79504052" "79504052" "subst" "0.000438662" "01943" "FSCN2_000013" "g.79504052C>A" "" "" "" "FSCN2(NM_001077182.2):c.1497C>A (p.G499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81537026C>A" "" "likely benign" ""
"0000287961" "0" "30" "17" "79495707" "79495707" "subst" "0.00437311" "01943" "FSCN2_000002" "g.79495707C>G" "" "" "" "FSCN2(NM_001077182.2):c.150C>G (p.P50=), FSCN2(NM_001077182.3):c.150C>G (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528681C>G" "" "likely benign" ""
"0000287963" "0" "30" "17" "79495605" "79495605" "subst" "0.00199839" "01943" "FSCN2_000001" "g.79495605C>T" "" "" "" "FSCN2(NM_001077182.2):c.48C>T (p.L16=), FSCN2(NM_001077182.3):c.48C>T (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528579C>T" "" "likely benign" ""
"0000325765" "0" "50" "17" "79479055" "79479055" "subst" "0" "01804" "ACTG1_000055" "g.79479055C>A" "" "" "" "ACTG1(NM_001199954.1):c.237G>T (p.(Trp79Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512029C>A" "" "VUS" ""
"0000338774" "0" "10" "17" "79478916" "79478916" "subst" "0.496552" "02327" "ACTG1_000052" "g.79478916G>T" "" "" "" "ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511890G>T" "" "benign" ""
"0000338775" "0" "30" "17" "79479792" "79479792" "subst" "0.0257798" "02327" "ACTG1_000079" "g.79479792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512766G>A" "" "likely benign" ""
"0000338776" "0" "10" "17" "79479808" "79479808" "subst" "0.777404" "02327" "ACTG1_000080" "g.79479808C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512782C>T" "" "benign" ""
"0000339149" "0" "50" "17" "79479283" "79479283" "subst" "0" "02327" "ACTG1_000078" "g.79479283G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512257G>C" "" "VUS" ""
"0000340468" "0" "10" "17" "79477818" "79477818" "subst" "0.0221604" "02327" "ACTG1_000031" "g.79477818A>G" "" "" "" "ACTG1(NM_001199954.2):c.1026T>C (p.G342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510792A>G" "" "benign" ""
"0000340469" "0" "10" "17" "79477830" "79477830" "subst" "0.0221554" "02327" "ACTG1_000032" "g.79477830C>T" "" "" "" "ACTG1(NM_001199954.2):c.1014G>A (p.S338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510804C>T" "" "benign" ""
"0000340470" "0" "10" "17" "79478007" "79478007" "subst" "0.288175" "02327" "ACTG1_000019" "g.79478007G>A" "" "" "" "ACTG1(NM_001199954.2):c.930C>T (p.A310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510981G>A" "" "benign" ""
"0000340471" "0" "10" "17" "79478019" "79478019" "subst" "0.788278" "02327" "ACTG1_000018" "g.79478019G>A" "" "" "" "ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510993G>A" "" "benign" ""
"0000340472" "0" "10" "17" "79478287" "79478287" "subst" "0.0168985" "02327" "ACTG1_000037" "g.79478287G>A" "" "" "" "ACTG1(NM_001199954.2):c.729C>T (p.P243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511261G>A" "" "benign" ""
"0000340473" "0" "10" "17" "79478617" "79478617" "subst" "0.0161175" "02327" "ACTG1_000050" "g.79478617G>A" "" "" "" "ACTG1(NM_001199954.2):c.399C>T (p.Y133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511591G>A" "" "benign" ""
"0000340474" "0" "10" "17" "79479115" "79479115" "subst" "0.0236459" "02327" "ACTG1_000059" "g.79479115C>T" "" "" "" "ACTG1(NM_001199954.2):c.177G>A (p.Q59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512089C>T" "" "benign" ""
"0000341173" "0" "70" "17" "79478586" "79478586" "subst" "0" "02327" "ACTG1_000072" "g.79478586C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511560C>G" "" "likely pathogenic" ""
"0000342760" "0" "50" "17" "79477730" "79477730" "subst" "0" "02327" "ACTG1_000066" "g.79477730G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81510704G>A" "" "VUS" ""
"0000344042" "0" "50" "17" "79478063" "79478063" "subst" "0" "02327" "ACTG1_000067" "g.79478063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511037C>T" "" "VUS" ""
"0000344128" "0" "90" "17" "79479141" "79479141" "subst" "0" "02327" "ACTG1_000077" "g.79479141C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512115C>T" "" "pathogenic" ""
"0000344343" "0" "70" "17" "79478084" "79478084" "subst" "0" "02327" "ACTG1_000068" "g.79478084A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511058A>G" "" "likely pathogenic" ""
"0000345072" "0" "50" "17" "79495900" "79495900" "subst" "2.36368E-5" "02327" "FSCN2_000016" "g.79495900G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81528874G>A" "" "VUS" ""
"0000346072" "0" "30" "17" "79479166" "79479166" "subst" "0.000256348" "02327" "ACTG1_000060" "g.79479166G>A" "" "" "" "ACTG1(NM_001199954.2):c.126C>T (p.G42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512140G>A" "" "likely benign" ""
"0000346532" "0" "50" "17" "79479030" "79479030" "subst" "0" "02327" "ACTG1_000076" "g.79479030G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512004G>A" "" "VUS" ""
"0000347379" "0" "90" "17" "79478939" "79478939" "subst" "0" "02327" "ACTG1_000008" "g.79478939T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511913T>A" "" "pathogenic" ""
"0000348009" "0" "50" "17" "79478230" "79478230" "subst" "0" "02327" "ACTG1_000071" "g.79478230G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511204G>C" "" "VUS" ""
"0000348142" "0" "90" "17" "79478957" "79478957" "subst" "0" "02327" "ACTG1_000074" "g.79478957G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511931G>A" "" "pathogenic" ""
"0000348324" "0" "90" "17" "79478243" "79478243" "subst" "0" "02327" "ACTG1_000022" "g.79478243G>A" "" "" "" "ACTG1(NM_001199954.3):c.773C>T (p.P258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511217G>A" "" "pathogenic" ""
"0000349408" "0" "90" "17" "79478104" "79478104" "subst" "0" "02327" "ACTG1_000011" "g.79478104G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81511078G>A" "" "pathogenic" ""
"0000349652" "0" "70" "17" "79479026" "79479026" "subst" "0" "02327" "ACTG1_000007" "g.79479026G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81512000G>A" "" "likely pathogenic" ""
"0000392085" "0" "50" "17" "79503821" "79503825" "dup" "0" "00244" "FSCN2_000017" "g.79503821_79503825dup" "" "" "" "dupGCGTG" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.81536795_81536799dup" "" "VUS" ""
"0000477284" "0" "50" "17" "79495628" "79495628" "del" "0" "02591" "FSCN2_000018" "g.79495628del" "20/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs376633374" "0" "" "" "g.81528602del" "" "VUS" ""
"0000477285" "0" "50" "17" "79495703" "79495703" "subst" "4.54355E-5" "02591" "FSCN2_000019" "g.79495703A>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200600577" "0" "" "" "g.81528677A>C" "" "VUS" ""
"0000477286" "0" "50" "17" "79495784" "79495784" "subst" "8.80253E-5" "02591" "FSCN2_000020" "g.79495784G>A" "3/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs376532437" "0" "" "" "g.81528758G>A" "" "VUS" ""
"0000477287" "0" "50" "17" "79495808" "79495808" "subst" "0.000156797" "02591" "FSCN2_000021" "g.79495808C>T" "7/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs373682711" "0" "" "" "g.81528782C>T" "" "VUS" ""
"0000477288" "0" "50" "17" "79495999" "79495999" "subst" "0.000420698" "02591" "FSCN2_000022" "g.79495999C>T" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs781899862" "0" "" "" "g.81528973C>T" "" "VUS" ""
"0000477289" "0" "50" "17" "79496026" "79496026" "subst" "0" "02591" "FSCN2_000023" "g.79496026C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81529000C>T" "" "VUS" ""
"0000477290" "0" "50" "17" "79496027" "79496027" "subst" "0.000159025" "02591" "FSCN2_000024" "g.79496027G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199574936" "0" "" "" "g.81529001G>A" "" "VUS" ""
"0000477291" "0" "50" "17" "79496096" "79496096" "subst" "0" "02591" "FSCN2_000025" "g.79496096G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782188805" "0" "" "" "g.81529070G>A" "" "VUS" ""
"0000477292" "0" "50" "17" "79496230" "79496230" "subst" "5.1261E-5" "02591" "FSCN2_000026" "g.79496230G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782333124" "0" "" "" "g.81529204G>T" "" "VUS" ""
"0000477293" "0" "50" "17" "79502137" "79502137" "subst" "0" "02591" "FSCN2_000027" "g.79502137A>G" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81535111A>G" "" "VUS" ""
"0000477294" "0" "50" "17" "79503221" "79503221" "subst" "4.45212E-6" "02591" "FSCN2_000028" "g.79503221C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81536195C>T" "" "VUS" ""
"0000477295" "0" "50" "17" "79503236" "79503236" "subst" "0.000115608" "02591" "FSCN2_000029" "g.79503236G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs779314198" "0" "" "" "g.81536210G>A" "" "VUS" ""
"0000477296" "0" "50" "17" "79503259" "79503261" "del" "0" "02591" "FSCN2_000030" "g.79503259_79503261del" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs760309853" "0" "" "" "g.81536233_81536235del" "" "VUS" ""
"0000477297" "0" "50" "17" "79503576" "79503576" "subst" "0.000162298" "02591" "FSCN2_000031" "g.79503576G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs561020906" "0" "" "" "g.81536550G>A" "" "VUS" ""
"0000477298" "0" "50" "17" "79503614" "79503614" "subst" "0" "02591" "FSCN2_000032" "g.79503614G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81536588G>A" "" "VUS" ""
"0000477299" "0" "50" "17" "79503806" "79503806" "subst" "6.52705E-5" "02591" "FSCN2_000033" "g.79503806C>T" "2/1199 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527747924" "0" "" "" "g.81536780C>T" "" "VUS" ""
"0000477300" "0" "90" "17" "79503900" "79503900" "subst" "0" "02591" "FSCN2_000034" "g.79503900G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81536874G>C" "" "pathogenic" ""
"0000477301" "0" "50" "17" "79503904" "79503904" "subst" "5.1444E-5" "02591" "FSCN2_000035" "g.79503904G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs769242340" "0" "" "" "g.81536878G>A" "" "VUS" ""
"0000477302" "0" "50" "17" "79504003" "79504003" "subst" "0" "02591" "FSCN2_000036" "g.79504003T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81536977T>C" "" "VUS" ""
"0000477303" "0" "50" "17" "79504026" "79504040" "dup" "0" "02591" "FSCN2_000037" "g.79504026_79504040dup" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81537000_81537014dup" "" "VUS" ""
"0000477304" "0" "50" "17" "79504042" "79504042" "subst" "0" "02591" "FSCN2_000038" "g.79504042G>C" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.81537016G>C" "" "VUS" ""
"0000477605" "3" "50" "17" "79495808" "79495808" "subst" "0.000156797" "02591" "FSCN2_000021" "g.79495808C>T" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs373682711" "0" "" "" "g.81528782C>T" "" "VUS" ""
"0000563661" "0" "30" "17" "79477827" "79477827" "subst" "0.000544357" "01943" "ACTG1_000081" "g.79477827C>G" "" "" "" "ACTG1(NM_001199954.2):c.1017G>C (p.V339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510801C>G" "" "likely benign" ""
"0000563662" "0" "70" "17" "79477841" "79477841" "subst" "0" "01943" "ACTG1_000082" "g.79477841G>A" "" "" "" "ACTG1(NM_001199954.2):c.1003C>T (p.R335C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510815G>A" "" "likely pathogenic" ""
"0000563663" "0" "90" "17" "79477841" "79477841" "subst" "0" "02327" "ACTG1_000082" "g.79477841G>A" "" "" "" "ACTG1(NM_001199954.2):c.1003C>T (p.R335C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510815G>A" "" "pathogenic" ""
"0000563664" "0" "30" "17" "79477866" "79477866" "dup" "0" "01943" "ACTG1_000083" "g.79477866dup" "" "" "" "ACTG1(NM_001199954.2):c.985-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510840dup" "" "likely benign" ""
"0000563665" "0" "30" "17" "79477946" "79477946" "subst" "5.68865E-5" "01804" "ACTG1_000084" "g.79477946G>A" "" "" "" "ACTG1(NM_001199954.1):c.984+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510920G>A" "" "likely benign" ""
"0000563666" "0" "30" "17" "79477957" "79477957" "subst" "0" "02327" "ACTG1_000085" "g.79477957A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510931A>G" "" "likely benign" ""
"0000563667" "0" "30" "17" "79478060" "79478060" "subst" "0.000235579" "01943" "ACTG1_000086" "g.79478060G>A" "" "" "" "ACTG1(NM_001199954.2):c.877C>T (p.L293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511034G>A" "" "likely benign" ""
"0000563668" "0" "50" "17" "79478078" "79478078" "subst" "0" "02327" "ACTG1_000087" "g.79478078C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511052C>T" "" "VUS" ""
"0000563669" "0" "90" "17" "79478095" "79478095" "subst" "0" "02327" "ACTG1_000088" "g.79478095G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511069G>C" "" "pathogenic" ""
"0000563670" "0" "30" "17" "79478141" "79478141" "subst" "6.49905E-5" "01943" "ACTG1_000089" "g.79478141G>A" "" "" "" "ACTG1(NM_001199954.2):c.803-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511115G>A" "" "likely benign" ""
"0000563671" "0" "10" "17" "79478236" "79478236" "subst" "0.00304958" "01943" "ACTG1_000090" "g.79478236C>T" "" "" "" "ACTG1(NM_001199954.2):c.780G>A (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511210C>T" "" "benign" ""
"0000563672" "0" "90" "17" "79478250" "79478250" "subst" "0" "02327" "ACTG1_000006" "g.79478250G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511224G>A" "" "pathogenic" ""
"0000563673" "0" "90" "17" "79478309" "79478309" "subst" "0" "02327" "ACTG1_000091" "g.79478309A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511283A>G" "" "pathogenic" ""
"0000563674" "0" "50" "17" "79478315" "79478315" "subst" "4.07654E-6" "02325" "ACTG1_000092" "g.79478315G>A" "" "" "" "ACTG1(NM_001199954.3):c.701C>T (p.S234F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511289G>A" "" "VUS" ""
"0000563675" "0" "70" "17" "79478358" "79478358" "dup" "0" "01943" "ACTG1_000093" "g.79478358dup" "" "" "" "ACTG1(NM_001199954.2):c.658dupG (p.A220Gfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511332dup" "" "likely pathogenic" ""
"0000563676" "0" "30" "17" "79478404" "79478404" "subst" "0.000146482" "01943" "ACTG1_000094" "g.79478404G>A" "" "" "" "ACTG1(NM_001199954.2):c.612C>T (p.A204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511378G>A" "" "likely benign" ""
"0000563677" "0" "70" "17" "79478468" "79478468" "subst" "4.07186E-6" "02327" "ACTG1_000095" "g.79478468C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511442C>T" "" "likely pathogenic" ""
"0000563678" "0" "50" "17" "79478501" "79478501" "subst" "0" "02327" "ACTG1_000096" "g.79478501G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511475G>C" "" "VUS" ""
"0000563679" "0" "50" "17" "79478505" "79478505" "subst" "0" "02327" "ACTG1_000097" "g.79478505G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511479G>A" "" "VUS" ""
"0000563680" "0" "50" "17" "79478540" "79478540" "subst" "0" "02327" "ACTG1_000098" "g.79478540A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511514A>G" "" "VUS" ""
"0000563681" "0" "50" "17" "79478617" "79478617" "subst" "0" "01943" "ACTG1_000099" "g.79478617G>T" "" "" "" "ACTG1(NM_001199954.2):c.399C>A (p.Y133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511591G>T" "" "VUS" ""
"0000563682" "0" "30" "17" "79479067" "79479067" "subst" "2.43787E-5" "01943" "ACTG1_000100" "g.79479067G>A" "" "" "" "ACTG1(NM_001199954.2):c.225C>T (p.I75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512041G>A" "" "likely benign" ""
"0000563683" "0" "70" "17" "79479080" "79479080" "subst" "0" "01804" "ACTG1_000101" "g.79479080A>G" "" "" "" "ACTG1(NM_001614.3):c.212T>C (p.(Ile71Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512054A>G" "" "likely pathogenic" ""
"0000563684" "0" "70" "17" "79479095" "79479095" "subst" "0" "02327" "ACTG1_000102" "g.79479095G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512069G>A" "" "likely pathogenic" ""
"0000563685" "0" "30" "17" "79479359" "79479359" "subst" "1.21843E-5" "01943" "ACTG1_000103" "g.79479359G>A" "" "" "" "ACTG1(NM_001199954.2):c.22C>T (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512333G>A" "" "likely benign" ""
"0000563686" "0" "30" "17" "79479389" "79479389" "subst" "0.00399301" "01804" "ACTG1_000065" "g.79479389G>A" "" "" "" "ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512363G>A" "" "likely benign" ""
"0000563687" "0" "30" "17" "79479634" "79479634" "subst" "0" "01804" "ACTG1_000104" "g.79479634G>A" "" "" "" "ACTG1(NM_001199954.1):c.-7+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512608G>A" "" "likely benign" ""
"0000563688" "0" "10" "17" "79495605" "79495605" "subst" "0.00199839" "02330" "FSCN2_000001" "g.79495605C>T" "" "" "" "FSCN2(NM_001077182.2):c.48C>T (p.L16=), FSCN2(NM_001077182.3):c.48C>T (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528579C>T" "" "benign" ""
"0000563689" "0" "10" "17" "79495606" "79495606" "subst" "0.00231374" "02330" "FSCN2_000039" "g.79495606G>A" "" "" "" "FSCN2(NM_001077182.2):c.49G>A (p.V17I), FSCN2(NM_001077182.3):c.49G>A (p.V17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528580G>A" "" "benign" ""
"0000563690" "0" "30" "17" "79495606" "79495606" "subst" "0.00231374" "01943" "FSCN2_000039" "g.79495606G>A" "" "" "" "FSCN2(NM_001077182.2):c.49G>A (p.V17I), FSCN2(NM_001077182.3):c.49G>A (p.V17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528580G>A" "" "likely benign" ""
"0000563691" "0" "50" "17" "79495786" "79495786" "subst" "0" "01943" "FSCN2_000040" "g.79495786G>A" "" "" "" "FSCN2(NM_001077182.2):c.229G>A (p.V77M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528760G>A" "" "VUS" ""
"0000563692" "0" "30" "17" "79495891" "79495891" "subst" "0" "02330" "FSCN2_000041" "g.79495891G>C" "" "" "" "FSCN2(NM_001077182.3):c.334G>C (p.G112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528865G>C" "" "likely benign" ""
"0000563693" "0" "30" "17" "79495914" "79495914" "subst" "0.0013256" "01943" "FSCN2_000003" "g.79495914C>T" "" "" "" "FSCN2(NM_001077182.2):c.357C>T (p.S119=), FSCN2(NM_001077182.3):c.357C>T (p.S119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528888C>T" "" "likely benign" ""
"0000563694" "0" "50" "17" "79496006" "79496006" "subst" "0" "02330" "FSCN2_000042" "g.79496006G>A" "" "" "" "FSCN2(NM_001077182.3):c.449G>A (p.R150H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528980G>A" "" "VUS" ""
"0000563695" "0" "50" "17" "79496050" "79496050" "subst" "0" "01943" "FSCN2_000043" "g.79496050G>A" "" "" "" "FSCN2(NM_001077182.2):c.493G>A (p.G165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81529024G>A" "" "VUS" ""
"0000563696" "0" "10" "17" "79496076" "79496076" "subst" "0.000430112" "02330" "FSCN2_000044" "g.79496076C>T" "" "" "" "FSCN2(NM_001077182.2):c.519C>T (p.A173=), FSCN2(NM_001077182.3):c.519C>T (p.A173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81529050C>T" "" "benign" ""
"0000563697" "0" "10" "17" "79502118" "79502118" "subst" "4.41969E-5" "02330" "C17orf70_000009" "g.79502118C>T" "" "" "" "FSCN2(NM_001077182.3):c.867C>T (p.H289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81535092C>T" "" "benign" ""
"0000563698" "0" "10" "17" "79503165" "79503165" "subst" "0.000774833" "01943" "C17orf70_000010" "g.79503165C>T" "" "" "" "FSCN2(NM_001077182.2):c.984-7C>T, FSCN2(NM_001077182.3):c.984-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536139C>T" "" "benign" ""
"0000563699" "0" "50" "17" "79503239" "79503239" "subst" "4.90008E-5" "01943" "C17orf70_000011" "g.79503239C>T" "" "" "" "FSCN2(NM_001077182.2):c.1051C>T (p.R351C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536213C>T" "" "VUS" ""
"0000563700" "0" "30" "17" "79503245" "79503245" "subst" "0.000318846" "02325" "FSCN2_000009" "g.79503245G>A" "" "" "" "FSCN2(NM_001077182.2):c.1057G>A (p.V353M), FSCN2(NM_001077182.3):c.1057G>A (p.V353M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536219G>A" "" "likely benign" ""
"0000563701" "0" "10" "17" "79503642" "79503642" "subst" "0.00115199" "02330" "C17orf70_000012" "g.79503642C>T" "" "" "" "FSCN2(NM_001077182.3):c.1172C>T (p.P391L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536616C>T" "" "benign" ""
"0000563702" "0" "50" "17" "79503702" "79503702" "subst" "1.25979E-5" "01943" "C17orf70_000013" "g.79503702G>A" "" "" "" "FSCN2(NM_001077182.2):c.1232G>A (p.R411H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536676G>A" "" "VUS" ""
"0000563703" "0" "30" "17" "79503751" "79503751" "subst" "8.45995E-6" "01943" "C17orf70_000014" "g.79503751C>T" "" "" "" "FSCN2(NM_001077182.2):c.1281C>T (p.D427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536725C>T" "" "likely benign" ""
"0000563704" "0" "50" "17" "79503758" "79503758" "subst" "2.96653E-5" "01943" "C17orf70_000015" "g.79503758C>G" "" "" "" "FSCN2(NM_001077182.2):c.1288C>G (p.R430G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536732C>G" "" "VUS" ""
"0000616913" "0" "30" "17" "79477848" "79477848" "subst" "8.12414E-6" "01943" "ACTG1_000107" "g.79477848G>C" "" "" "" "ACTG1(NM_001199954.2):c.996C>G (p.P332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81510822G>C" "" "likely benign" ""
"0000616914" "0" "30" "17" "79478380" "79478380" "subst" "1.21996E-5" "01943" "ACTG1_000108" "g.79478380G>T" "" "" "" "ACTG1(NM_001199954.2):c.636C>A (p.I212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511354G>T" "" "likely benign" ""
"0000616915" "0" "70" "17" "79478418" "79478418" "subst" "0" "02327" "ACTG1_000109" "g.79478418A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511392A>G" "" "likely pathogenic" ""
"0000616916" "0" "30" "17" "79478425" "79478425" "subst" "0" "01943" "ACTG1_000110" "g.79478425G>C" "" "" "" "ACTG1(NM_001199954.2):c.591C>G (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511399G>C" "" "likely benign" ""
"0000616917" "0" "50" "17" "79478969" "79478969" "dup" "0" "01943" "ACTG1_000111" "g.79478969dup" "" "" "" "ACTG1(NM_001199954.2):c.328dupC (p.L110Pfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81511943dup" "" "VUS" ""
"0000616918" "0" "30" "17" "79479139" "79479139" "subst" "4.0665E-6" "01943" "ACTG1_000112" "g.79479139G>A" "" "" "" "ACTG1(NM_001199954.2):c.153C>T (p.D51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512113G>A" "" "likely benign" ""
"0000616919" "0" "30" "17" "79479299" "79479299" "subst" "0" "02327" "ACTG1_000113" "g.79479299G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512273G>C" "" "likely benign" ""
"0000616920" "0" "30" "17" "79479342" "79479342" "subst" "0.000926054" "02327" "ACTG1_000062" "g.79479342G>A" "" "" "" "ACTG1(NM_001199954.2):c.39C>T (p.G13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512316G>A" "" "likely benign" ""
"0000616921" "0" "30" "17" "79479393" "79479393" "subst" "0.000146238" "01943" "ACTG1_000114" "g.79479393G>A" "" "" "" "ACTG1(NM_001199954.2):c.-6-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81512367G>A" "" "likely benign" ""
"0000616922" "0" "50" "17" "79495775" "79495775" "subst" "0" "01943" "FSCN2_000045" "g.79495775A>G" "" "" "" "FSCN2(NM_001077182.2):c.218A>G (p.E73G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528749A>G" "" "VUS" ""
"0000616923" "0" "50" "17" "79503190" "79503191" "ins" "0" "01943" "C17orf70_000018" "g.79503190_79503191insAT" "" "" "" "FSCN2(NM_001077182.2):c.1002_1003insAT (p.E335Mfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536164_81536165insAT" "" "VUS" ""
"0000616924" "0" "30" "17" "79503708" "79503708" "subst" "0.000168641" "01943" "C17orf70_000019" "g.79503708T>C" "" "" "" "FSCN2(NM_001077182.2):c.1238T>C (p.L413P), FSCN2(NM_001077182.3):c.1238T>C (p.L413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536682T>C" "" "likely benign" ""
"0000623791" "0" "50" "17" "79495954" "79495954" "subst" "3.87732E-5" "01943" "FSCN2_000046" "g.79495954G>A" "" "" "" "FSCN2(NM_001077182.2):c.397G>A (p.V133M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81528928G>A" "" "VUS" ""
"0000623792" "0" "30" "17" "79503772" "79503772" "subst" "0.00113075" "02330" "C17orf70_000020" "g.79503772C>T" "" "" "" "FSCN2(NM_001077182.3):c.1302C>T (p.D434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536746C>T" "" "likely benign" ""
"0000649750" "1" "10" "17" "79495969" "79495969" "subst" "0.00714921" "03575" "FSCN2_000047" "g.79495969C>T" "25/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs143796236}" "Germline" "" "rs143796236" "0" "" "" "g.81528943C>T" "" "benign" ""
"0000649751" "1" "10" "17" "79502218" "79502218" "subst" "0.0266919" "03575" "FSCN2_000048" "g.79502218G>A" "21/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs186367879}" "Germline" "" "rs186367879" "0" "" "" "g.81535192G>A" "" "benign" ""
"0000658297" "0" "30" "17" "79503162" "79503162" "subst" "4.24849E-5" "01943" "C17orf70_000021" "g.79503162C>T" "" "" "" "FSCN2(NM_001077182.2):c.984-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536136C>T" "" "likely benign" ""
"0000681073" "0" "30" "17" "79477992" "79477992" "subst" "0" "02327" "ACTG1_000137" "g.79477992C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000681074" "0" "50" "17" "79478017" "79478017" "subst" "4.06194E-6" "02327" "ACTG1_000034" "g.79478017G>A" "" "" "" "ACTG1(NM_001199954.2):c.920C>T (p.P307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000681075" "0" "30" "17" "79496049" "79496049" "subst" "0.000324167" "01943" "FSCN2_000050" "g.79496049C>T" "" "" "" "FSCN2(NM_001077182.2):c.492C>T (p.D164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684427" "1" "30" "17" "79496131" "79496131" "subst" "0.00014415" "00004" "FSCN2_000051" "g.79496131C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.81529105C>T" "" "likely benign" ""
"0000685836" "1" "50" "17" "79503806" "79503806" "subst" "6.52705E-5" "00006" "FSCN2_000033" "g.79503806C>T" "" "{PMID:Jinda 2014:24618324}" "" "NM_012418.3:c.1264C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000692518" "0" "30" "17" "79477848" "79477848" "subst" "0.0001178" "01943" "ACTG1_000116" "g.79477848G>T" "" "" "" "ACTG1(NM_001199954.2):c.996C>A (p.P332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692519" "0" "50" "17" "79478120" "79478120" "subst" "4.06177E-6" "01943" "ACTG1_000138" "g.79478120C>T" "" "" "" "ACTG1(NM_001199954.2):c.817G>A (p.G273S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692520" "0" "30" "17" "79496076" "79496076" "subst" "0.000430112" "01943" "FSCN2_000044" "g.79496076C>T" "" "" "" "FSCN2(NM_001077182.2):c.519C>T (p.A173=), FSCN2(NM_001077182.3):c.519C>T (p.A173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692521" "0" "50" "17" "79502134" "79502134" "subst" "0" "01943" "C17orf70_000022" "g.79502134C>A" "" "" "" "FSCN2(NM_001077182.2):c.883C>A (p.Q295K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692522" "0" "30" "17" "79503827" "79503844" "del" "0" "01943" "C17orf70_000023" "g.79503827_79503844del" "" "" "" "FSCN2(NM_001077182.2):c.1345+12_1345+29delGGCGGGTGGGCACGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000704031" "1" "00" "17" "79495765" "79495765" "del" "0" "00008" "FSCN2_000052" "g.79495765del" "" "{PMID:Wada 2003:14661542}" "" "208 delG" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000711693" "1" "10" "17" "79495969" "79495969" "subst" "0.00714921" "00008" "FSCN2_000047" "g.79495969C>T" "" "{PMID:Ziviello 2005:15994872}" "" "H138Y" "" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000726766" "0" "50" "17" "79478469" "79478469" "subst" "0" "01943" "ACTG1_000140" "g.79478469G>A" "" "" "" "ACTG1(NM_001199954.2):c.547C>T (p.R183W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726767" "0" "50" "17" "79478531" "79478531" "subst" "0" "02327" "ACTG1_000130" "g.79478531G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726768" "0" "70" "17" "79479298" "79479298" "subst" "0" "02327" "ACTG1_000141" "g.79479298C>A" "" "" "" "ACTG1(NM_001199954.2):c.83G>T (p.R28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000732449" "0" "50" "17" "79495786" "79495786" "subst" "0" "00000" "FSCN2_000040" "g.79495786G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.81528760G>A" "" "VUS" ""
"0000732492" "0" "50" "17" "79496133" "79496133" "subst" "5.09481E-6" "00000" "FSCN2_000053" "g.79496133C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.81529107C>T" "" "VUS" ""
"0000734341" "0" "70" "17" "79495784" "79495784" "subst" "8.80253E-5" "00000" "FSCN2_000020" "g.79495784G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.81528758G>A" "" "likely pathogenic" ""
"0000734687" "0" "50" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Jinda 2017:28453600}" "" "NM_001077182.2:1264C>T (Arg422Trp)" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000735928" "0" "70" "17" "79502159" "79502159" "subst" "2.21203E-5" "02485" "FSCN2_000055" "g.79502159G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.81535133G>A" "" "likely pathogenic" ""
"0000736404" "1" "10" "17" "79495606" "79495606" "subst" "0.00231374" "00008" "FSCN2_000039" "g.79495606G>A" "" "{PMID:Sullivan 2006:16799052}" "" "49G>A" "In one white control subject" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000736405" "1" "10" "17" "79496050" "79496050" "subst" "0" "00008" "FSCN2_000043" "g.79496050G>A" "" "{PMID:Sullivan 2006:16799052}" "" "493G>A" "" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000736406" "1" "10" "17" "79496248" "79496248" "subst" "0.000707571" "00008" "FSCN2_000054" "g.79496248C>T" "" "{PMID:Sullivan 2006:16799052}" "" "691C>T" "" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000736407" "1" "10" "17" "79502218" "79502218" "subst" "0.0266919" "00008" "FSCN2_000048" "g.79502218G>A" "" "{PMID:Sullivan 2006:16799052}" "" "967G>A" ".96/.04 in white control subjects" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000736408" "1" "10" "17" "79504020" "79504020" "subst" "0" "00008" "MYH2_000008" "g.79504020C>G" "" "{PMID:Sullivan 2006:16799052}" "" "1465C>G" ".98/.02 in white control subjects" "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000736835" "1" "30" "17" "79503259" "79503261" "del" "0" "00000" "FSCN2_000030" "g.79503259_79503261del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs760309853" "0" "" "" "g.81536233_81536235del" "" "likely benign" ""
"0000785537" "0" "50" "17" "79496002" "79496002" "subst" "4.54504E-5" "00000" "FSCN2_000056" "g.79496002C>T" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.81528976C>T" "" "VUS" ""
"0000788409" "0" "50" "17" "79503904" "79503904" "subst" "5.1444E-5" "00000" "FSCN2_000035" "g.79503904G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1349A" "" "Germline" "" "" "0" "" "" "g.81536878G>A" "" "VUS" ""
"0000788508" "0" "50" "17" "79495808" "79495808" "subst" "0.000156797" "00000" "FSCN2_000021" "g.79495808C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C251T" "" "Germline" "" "rs373682711" "0" "" "" "g.81528782C>T" "" "VUS" ""
"0000790427" "0" "70" "17" "79496024" "79496024" "subst" "0.000130082" "00000" "FSCN2_000058" "g.79496024C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.81528998C>T" "" "likely pathogenic" ""
"0000790428" "0" "70" "17" "79495629" "79495629" "del" "0.000931887" "00000" "FSCN2_000057" "g.79495629del" "" "{PMID:Wang 2014:25097241}" "" "c.72delG" "" "Germline" "" "" "0" "" "" "g.81528603del" "" "likely pathogenic" ""
"0000790626" "0" "50" "17" "79503994" "79503994" "subst" "0.00240408" "00000" "FSCN2_000059" "g.79503994G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.81536968G>A" "" "VUS" ""
"0000793743" "0" "50" "17" "79496095" "79496095" "subst" "0.00236432" "00000" "FSCN2_000005" "g.79496095C>T" "0.10% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.538C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000794698" "0" "70" "17" "79503245" "79503245" "subst" "0.000318846" "00000" "FSCN2_000009" "g.79503245G>A" "" "{PMID:Kersten 2018:30215852}" "" "c.1057G>A; p.V353?M" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.81536219G>A" "" "likely pathogenic" ""
"0000795922" "0" "70" "17" "79496248" "79496248" "subst" "0.000707571" "00000" "FSCN2_000054" "g.79496248C>T" "" "{PMID:Schorderet-2013:23484092}" "" "p.FSCN2-P231S" "Father healthy heterozygous carrier" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796676" "0" "70" "17" "79496362" "79496362" "subst" "3.24756E-5" "00000" "FSCN2_000064" "g.79496362C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.805C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796717" "0" "70" "17" "79495882" "79495882" "subst" "1.94588E-5" "00000" "FSCN2_000060" "g.79495882C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.325C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796724" "0" "70" "17" "79495969" "79495969" "subst" "0.00714921" "00000" "FSCN2_000047" "g.79495969C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.412C>T" "" "Germline" "" "rs143796236" "0" "" "" "" "" "likely pathogenic" ""
"0000796764" "0" "70" "17" "79495934" "79495934" "subst" "8.44788E-5" "00000" "FSCN2_000061" "g.79495934C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.377C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796852" "0" "70" "17" "79496095" "79496095" "subst" "0.00236432" "00000" "FSCN2_000005" "g.79496095C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.538C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796854" "0" "70" "17" "79496068" "79496068" "subst" "0.000283386" "00000" "FSCN2_000062" "g.79496068G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.511G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796863" "0" "70" "17" "79496204" "79496204" "subst" "2.89782E-5" "00000" "FSCN2_000063" "g.79496204C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.647C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000798132" "0" "50" "17" "79503821" "79503825" "dup" "0" "00000" "FSCN2_000017" "g.79503821_79503825dup" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m5: c.1345 + 6_1345 + 10dup; r.(spl?)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.81536795_81536799dup" "" "VUS" ""
"0000808334" "0" "50" "17" "79477831" "79477831" "subst" "0" "02327" "ACTG1_000139" "g.79477831G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808335" "0" "50" "17" "79478315" "79478315" "subst" "4.07654E-6" "02327" "ACTG1_000092" "g.79478315G>A" "" "" "" "ACTG1(NM_001199954.3):c.701C>T (p.S234F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808336" "0" "10" "17" "79495866" "79495866" "subst" "0.00198702" "02330" "FSCN2_000065" "g.79495866G>A" "" "" "" "FSCN2(NM_001077182.3):c.309G>A (p.R103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000808337" "0" "30" "17" "79495897" "79495897" "subst" "0.000712025" "01943" "FSCN2_000066" "g.79495897A>G" "" "" "" "FSCN2(NM_001077182.2):c.340A>G (p.T114A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000815422" "0" "50" "17" "79496168" "79496168" "subst" "0" "00000" "FSCN2_000067" "g.79496168C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "FSCN2:NM_001077182 c.C611G, p.P204R" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.81529142C>G" "" "VUS" "ACMG"
"0000815429" "0" "50" "17" "79503293" "79503293" "subst" "8.76966E-5" "00000" "FSCN2_000068" "g.79503293G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "FSCN2:NM_012418 c.G1105A, p.G369S" "different transcript: NM_012418.3(FSCN2):c.1105G>A, p.(Gly369Ser), heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.81536267G>A" "" "VUS" "ACMG"
"0000818976" "1" "50" "17" "79502077" "79502235" "del" "0" "00000" "FSCN2_000069" "g.(79496384_79502077)_(79502235_79503171)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr17:79502074–79502239" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000855161" "0" "70" "17" "79477813" "79477813" "subst" "0" "02327" "ACTG1_000142" "g.79477813G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000855162" "0" "30" "17" "79478626" "79478626" "subst" "6.93832E-5" "01943" "ACTG1_000144" "g.79478626C>T" "" "" "" "ACTG1(NM_001199954.2):c.390G>A (p.P130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855163" "0" "50" "17" "79495739" "79495739" "subst" "0" "01943" "FSCN2_000070" "g.79495739G>T" "" "" "" "FSCN2(NM_001077182.2):c.182G>T (p.R61L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855164" "0" "30" "17" "79496068" "79496068" "subst" "0.000283386" "02330" "FSCN2_000062" "g.79496068G>A" "" "" "" "FSCN2(NM_001077182.3):c.511G>A (p.V171M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855165" "0" "50" "17" "79496146" "79496146" "subst" "0" "01943" "FSCN2_000071" "g.79496146G>A" "" "" "" "FSCN2(NM_001077182.2):c.589G>A (p.D197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855166" "0" "50" "17" "79503262" "79503262" "subst" "4.40005E-6" "01943" "C17orf70_000026" "g.79503262T>A" "" "" "" "FSCN2(NM_001077182.2):c.1074T>A (p.N358K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855167" "0" "50" "17" "79503708" "79503708" "subst" "0.000168641" "02325" "C17orf70_000019" "g.79503708T>C" "" "" "" "FSCN2(NM_001077182.2):c.1238T>C (p.L413P), FSCN2(NM_001077182.3):c.1238T>C (p.L413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855168" "0" "30" "17" "79504090" "79504090" "subst" "0.000932561" "01943" "C17orf70_000028" "g.79504090C>T" "" "" "" "FSCN2(NM_001077182.2):c.1535C>T (p.A512V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865559" "0" "30" "17" "79478362" "79478362" "subst" "0.000207493" "01943" "ACTG1_000143" "g.79478362G>A" "" "" "" "ACTG1(NM_001199954.2):c.654C>T (p.Y218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865560" "0" "30" "17" "79479389" "79479389" "subst" "0.00399301" "02329" "ACTG1_000065" "g.79479389G>A" "" "" "" "ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865561" "0" "30" "17" "79503896" "79503896" "subst" "0" "01943" "C17orf70_000027" "g.79503896C>T" "" "" "" "FSCN2(NM_001077182.2):c.1346-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000894351" "0" "70" "17" "79477824" "79477824" "subst" "0" "02327" "ACTG1_000145" "g.79477824C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000894352" "0" "30" "17" "79503708" "79503708" "subst" "0.000168641" "02330" "C17orf70_000019" "g.79503708T>C" "" "" "" "FSCN2(NM_001077182.2):c.1238T>C (p.L413P), FSCN2(NM_001077182.3):c.1238T>C (p.L413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000894353" "0" "10" "17" "79507989" "79507989" "subst" "0.0126106" "02329" "C17orf70_000029" "g.79507989C>T" "" "" "" "FAAP100(NM_025161.6):c.2515-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000926677" "0" "30" "17" "79478295" "79478295" "subst" "0" "02327" "ACTG1_000038" "g.79478295C>G" "" "" "" "ACTG1(NM_001199954.2):c.721G>C (p.E241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930907" "0" "50" "17" "79478586" "79478593" "del" "0" "02325" "ACTG1_000146" "g.79478586_79478593del" "" "" "" "ACTG1(NM_001614.5):c.428_435delACGCCTCT (p.Y143Wfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000951068" "0" "30" "17" "79503165" "79503165" "subst" "0.000774833" "02330" "C17orf70_000010" "g.79503165C>T" "" "" "" "FSCN2(NM_001077182.2):c.984-7C>T, FSCN2(NM_001077182.3):c.984-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000969279" "0" "50" "17" "79478107" "79478107" "subst" "0" "02327" "ACTG1_000147" "g.79478107G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000969281" "0" "30" "17" "79503245" "79503245" "subst" "0.000318846" "02330" "FSCN2_000009" "g.79503245G>A" "" "" "" "FSCN2(NM_001077182.2):c.1057G>A (p.V353M), FSCN2(NM_001077182.3):c.1057G>A (p.V353M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982897" "0" "30" "17" "79479336" "79479336" "subst" "0.000199024" "01804" "ACTG1_000148" "g.79479336G>A" "" "" "" "ACTG1(NM_001614.5):c.45C>T (p.(Gly15=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982898" "0" "30" "17" "79479384" "79479384" "subst" "4.06194E-6" "01804" "ACTG1_000149" "g.79479384G>A" "" "" "" "ACTG1(NM_001614.5):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982899" "0" "30" "17" "79495999" "79495999" "subst" "0.000420698" "02330" "FSCN2_000022" "g.79495999C>T" "" "" "" "FSCN2(NM_001077182.3):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001027077" "0" "50" "17" "79477849" "79477849" "subst" "0" "02327" "ACTG1_000152" "g.79477849G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001027078" "0" "90" "17" "79478243" "79478243" "subst" "0" "02329" "ACTG1_000022" "g.79478243G>A" "" "" "" "ACTG1(NM_001199954.3):c.773C>T (p.P258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001027079" "0" "50" "17" "79479298" "79479298" "subst" "0" "01943" "ACTG1_000141" "g.79479298C>A" "" "" "" "ACTG1(NM_001199954.2):c.83G>T (p.R28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001042274" "0" "30" "17" "79477868" "79477868" "subst" "4.0623E-6" "01804" "ACTG1_000153" "g.79477868A>C" "" "" "" "ACTG1(NM_001614.5):c.985-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001042275" "0" "30" "17" "79479175" "79479175" "subst" "2.03454E-5" "01804" "ACTG1_000154" "g.79479175G>A" "" "" "" "ACTG1(NM_001614.5):c.124-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001042276" "0" "50" "17" "79495562" "79495562" "subst" "8.9279E-5" "01804" "FSCN2_000072" "g.79495562C>T" "" "" "" "FSCN2(NM_012418.4):c.5C>T (p.(Pro2Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001042277" "0" "50" "17" "79503666" "79503666" "subst" "0.000675101" "01804" "C17orf70_000033" "g.79503666C>G" "" "" "" "FSCN2(NM_012418.4):c.1124C>G (p.(Thr375Ser))" "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 FSCN2
## Count = 250
"{{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}}"
"0000254431" "00025303" "30" "-17740" "0" "-17740" "0" "c.-17740A>G" "r.(?)" "p.(=)" ""
"0000254942" "00025303" "30" "-17073" "0" "-17073" "0" "c.-17073A>G" "r.(?)" "p.(=)" ""
"0000258916" "00025303" "10" "-16642" "0" "-16642" "0" "c.-16642G>T" "r.(?)" "p.(=)" ""
"0000258917" "00025303" "10" "-17539" "0" "-17539" "0" "c.-17539G>A" "r.(?)" "p.(=)" ""
"0000259929" "00025303" "50" "-17263" "0" "-17263" "0" "c.-17263C>G" "r.(?)" "p.(=)" ""
"0000261850" "00025303" "10" "-16169" "0" "-16169" "0" "c.-16169G>A" "r.(?)" "p.(=)" ""
"0000261851" "00025303" "30" "-17728" "0" "-17728" "0" "c.-17728C>T" "r.(?)" "p.(=)" ""
"0000261852" "00025303" "30" "-17743" "0" "-17743" "0" "c.-17743G>A" "r.(?)" "p.(=)" ""
"0000261853" "00025303" "30" "-17746" "0" "-17746" "0" "c.-17746G>A" "r.(?)" "p.(=)" ""
"0000261854" "00025303" "30" "-17749" "0" "-17749" "0" "c.-17749G>A" "r.(?)" "p.(=)" ""
"0000261855" "00025303" "30" "-17821" "0" "-17821" "0" "c.-17821G>T" "r.(?)" "p.(=)" ""
"0000261856" "00025303" "30" "-17821" "0" "-17821" "0" "c.-17821G>A" "r.(?)" "p.(=)" ""
"0000261857" "00025303" "30" "-17827" "0" "-17827" "0" "c.-17827G>A" "r.(?)" "p.(=)" ""
"0000261858" "00025303" "10" "-17842" "0" "-17842" "0" "c.-17842T>C" "r.(?)" "p.(=)" ""
"0000261859" "00025303" "30" "-16382" "0" "-16382" "0" "c.-16382G>A" "r.(?)" "p.(=)" ""
"0000261860" "00025303" "30" "-16392" "0" "-16392" "0" "c.-16392G>A" "r.(?)" "p.(=)" ""
"0000261861" "00025303" "10" "-16192" "0" "-16192" "0" "c.-16192G>A" "r.(?)" "p.(=)" ""
"0000261862" "00025303" "30" "-16443" "0" "-16443" "0" "c.-16443C>T" "r.(?)" "p.(=)" ""
"0000261863" "00025303" "50" "-16446" "0" "-16446" "0" "c.-16446G>A" "r.(?)" "p.(=)" ""
"0000261864" "00025303" "30" "-16195" "0" "-16195" "0" "c.-16195G>A" "r.(?)" "p.(=)" ""
"0000261865" "00025303" "30" "-16494" "0" "-16494" "0" "c.-16494G>A" "r.(?)" "p.(=)" ""
"0000261866" "00025303" "30" "-16497" "0" "-16497" "0" "c.-16497G>A" "r.(?)" "p.(=)" ""
"0000261867" "00025303" "30" "-16521" "0" "-16521" "0" "c.-16521G>A" "r.(?)" "p.(=)" ""
"0000261868" "00025303" "30" "-16575" "0" "-16575" "0" "c.-16575C>T" "r.(?)" "p.(=)" ""
"0000261869" "00025303" "10" "-16642" "0" "-16642" "0" "c.-16642G>T" "r.(?)" "p.(=)" ""
"0000261870" "00025303" "30" "-16643" "0" "-16643" "0" "c.-16643C>T" "r.(?)" "p.(=)" ""
"0000261871" "00025303" "30" "-16941" "0" "-16941" "0" "c.-16941G>A" "r.(?)" "p.(=)" ""
"0000261872" "00025303" "30" "-16216" "0" "-16216" "0" "c.-16216G>A" "r.(?)" "p.(=)" ""
"0000261873" "00025303" "30" "-16956" "0" "-16956" "0" "c.-16956G>A" "r.(?)" "p.(=)" ""
"0000261874" "00025303" "30" "-17013" "0" "-17013" "0" "c.-17013G>A" "r.(?)" "p.(=)" ""
"0000261875" "00025303" "30" "-17049" "0" "-17049" "0" "c.-17049G>A" "r.(?)" "p.(=)" ""
"0000261876" "00025303" "30" "-17088" "0" "-17088" "0" "c.-17088G>A" "r.(?)" "p.(=)" ""
"0000261877" "00025303" "30" "-17106" "0" "-17106" "0" "c.-17106G>A" "r.(?)" "p.(=)" ""
"0000261878" "00025303" "30" "-17136" "0" "-17136" "0" "c.-17136G>A" "r.(?)" "p.(=)" ""
"0000261880" "00025303" "30" "-17226" "0" "-17226" "0" "c.-17226G>A" "r.(?)" "p.(=)" ""
"0000261881" "00025303" "10" "-17235" "0" "-17235" "0" "c.-17235T>C" "r.(?)" "p.(=)" ""
"0000261882" "00025303" "50" "-17238" "0" "-17236" "0" "c.-17238_-17236del" "r.(?)" "p.(=)" ""
"0000261883" "00025303" "30" "-17271" "0" "-17271" "0" "c.-17271G>A" "r.(?)" "p.(=)" ""
"0000261884" "00025303" "30" "-17359" "0" "-17359" "0" "c.-17359G>A" "r.(?)" "p.(=)" ""
"0000261885" "00025303" "50" "-17488" "0" "-17488" "0" "c.-17488G>C" "r.(?)" "p.(=)" ""
"0000261886" "00025303" "10" "-17539" "0" "-17539" "0" "c.-17539G>A" "r.(?)" "p.(=)" ""
"0000261887" "00025303" "50" "-17541" "0" "-17541" "0" "c.-17541G>A" "r.(?)" "p.(=)" ""
"0000261888" "00025303" "10" "-17551" "0" "-17551" "0" "c.-17551G>A" "r.(?)" "p.(=)" ""
"0000268021" "00025303" "10" "5840" "0" "5840" "0" "c.*4289C>G" "r.(=)" "p.(=)" ""
"0000268022" "00025303" "10" "5301" "0" "5301" "0" "c.*3750T>G" "r.(=)" "p.(=)" ""
"0000276905" "00025303" "30" "1556" "0" "1556" "0" "c.*5G>A" "r.(=)" "p.(=)" ""
"0000276906" "00025303" "50" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" ""
"0000276907" "00025303" "30" "1028" "0" "1028" "0" "c.1028T>G" "r.(?)" "p.(Val343Gly)" ""
"0000276908" "00025303" "10" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Ile364=)" ""
"0000276909" "00025303" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Val368=)" ""
"0000276910" "00025303" "30" "1106" "-10" "1106" "-10" "c.1106-10C>T" "r.(=)" "p.(=)" ""
"0000276911" "00025303" "10" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Pro50=)" ""
"0000276912" "00025303" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Ser119=)" ""
"0000276913" "00025303" "10" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" ""
"0000276914" "00025303" "10" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Trp)" ""
"0000276915" "00025303" "10" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" ""
"0000287958" "00025303" "50" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" ""
"0000287959" "00025303" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Met)" ""
"0000287960" "00025303" "30" "1497" "0" "1497" "0" "c.1497C>A" "r.(?)" "p.(Gly499=)" ""
"0000287961" "00025303" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Pro50=)" ""
"0000287963" "00025303" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Leu16=)" ""
"0000325765" "00025303" "50" "-16503" "0" "-16503" "0" "c.-16503C>A" "r.(?)" "p.(=)" ""
"0000338774" "00025303" "10" "-16642" "0" "-16642" "0" "c.-16642G>T" "r.(?)" "p.(=)" ""
"0000338775" "00025303" "30" "-15766" "0" "-15766" "0" "c.-15766G>A" "r.(?)" "p.(=)" ""
"0000338776" "00025303" "10" "-15750" "0" "-15750" "0" "c.-15750C>T" "r.(?)" "p.(=)" ""
"0000339149" "00025303" "50" "-16275" "0" "-16275" "0" "c.-16275G>C" "r.(?)" "p.(=)" ""
"0000340468" "00025303" "10" "-17740" "0" "-17740" "0" "c.-17740A>G" "r.(?)" "p.(=)" ""
"0000340469" "00025303" "10" "-17728" "0" "-17728" "0" "c.-17728C>T" "r.(?)" "p.(=)" ""
"0000340470" "00025303" "10" "-17551" "0" "-17551" "0" "c.-17551G>A" "r.(?)" "p.(=)" ""
"0000340471" "00025303" "10" "-17539" "0" "-17539" "0" "c.-17539G>A" "r.(?)" "p.(=)" ""
"0000340472" "00025303" "10" "-17271" "0" "-17271" "0" "c.-17271G>A" "r.(?)" "p.(=)" ""
"0000340473" "00025303" "10" "-16941" "0" "-16941" "0" "c.-16941G>A" "r.(?)" "p.(=)" ""
"0000340474" "00025303" "10" "-16443" "0" "-16443" "0" "c.-16443C>T" "r.(?)" "p.(=)" ""
"0000341173" "00025303" "70" "-16972" "0" "-16972" "0" "c.-16972C>G" "r.(?)" "p.(=)" ""
"0000342760" "00025303" "50" "-17828" "0" "-17828" "0" "c.-17828G>A" "r.(?)" "p.(=)" ""
"0000344042" "00025303" "50" "-17495" "0" "-17495" "0" "c.-17495C>T" "r.(?)" "p.(=)" ""
"0000344128" "00025303" "90" "-16417" "0" "-16417" "0" "c.-16417C>T" "r.(?)" "p.(=)" ""
"0000344343" "00025303" "70" "-17474" "0" "-17474" "0" "c.-17474A>G" "r.(?)" "p.(=)" ""
"0000345072" "00025303" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Glu115Lys)" ""
"0000346072" "00025303" "30" "-16392" "0" "-16392" "0" "c.-16392G>A" "r.(?)" "p.(=)" ""
"0000346532" "00025303" "50" "-16528" "0" "-16528" "0" "c.-16528G>A" "r.(?)" "p.(=)" ""
"0000347379" "00025303" "90" "-16619" "0" "-16619" "0" "c.-16619T>A" "r.(?)" "p.(=)" ""
"0000348009" "00025303" "50" "-17328" "0" "-17328" "0" "c.-17328G>C" "r.(?)" "p.(=)" ""
"0000348142" "00025303" "90" "-16601" "0" "-16601" "0" "c.-16601G>A" "r.(?)" "p.(=)" ""
"0000348324" "00025303" "90" "-17315" "0" "-17315" "0" "c.-17315G>A" "r.(?)" "p.(=)" ""
"0000349408" "00025303" "90" "-17454" "0" "-17454" "0" "c.-17454G>A" "r.(?)" "p.(=)" ""
"0000349652" "00025303" "70" "-16532" "0" "-16532" "0" "c.-16532G>A" "r.(?)" "p.(=)" ""
"0000392085" "00025303" "50" "1345" "6" "1345" "10" "c.1345+6_1345+10dup" "r.spl?" "p.(=)" "4i"
"0000477284" "00025303" "50" "71" "0" "71" "0" "c.71del" "r.(?)" "p.(Leu24Argfs*121)" ""
"0000477285" "00025303" "50" "146" "0" "146" "0" "c.146A>C" "r.(?)" "p.(Glu49Ala)" ""
"0000477286" "00025303" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" ""
"0000477287" "00025303" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" ""
"0000477288" "00025303" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" ""
"0000477289" "00025303" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" ""
"0000477290" "00025303" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157Gln)" ""
"0000477291" "00025303" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180Gln)" ""
"0000477292" "00025303" "50" "673" "0" "673" "0" "c.673G>T" "r.(?)" "p.(Asp225Tyr)" ""
"0000477293" "00025303" "50" "886" "0" "886" "0" "c.886A>G" "r.(?)" "p.(Ile296Val)" ""
"0000477294" "00025303" "50" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Leu345Phe)" ""
"0000477295" "00025303" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Gly350Arg)" ""
"0000477296" "00025303" "50" "1071" "0" "1073" "0" "c.1071_1073del" "r.(?)" "p.(Lys357del)" ""
"0000477297" "00025303" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Glu)" ""
"0000477298" "00025303" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Arg)" ""
"0000477299" "00025303" "50" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Trp)" ""
"0000477300" "00025303" "90" "1346" "-1" "1346" "-1" "c.1346-1G>C" "r.spl?" "p.?" ""
"0000477301" "00025303" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" ""
"0000477302" "00025303" "50" "1448" "0" "1448" "0" "c.1448T>C" "r.(?)" "p.(Leu483Pro)" ""
"0000477303" "00025303" "50" "1471" "0" "1485" "0" "c.1471_1485dup" "r.(?)" "p.(Lys491_Gly495dup)" ""
"0000477304" "00025303" "50" "1487" "0" "1487" "0" "c.1487G>C" "r.(?)" "p.(Gly496Ala)" ""
"0000477605" "00025303" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" ""
"0000563661" "00025303" "30" "-17731" "0" "-17731" "0" "c.-17731C>G" "r.(?)" "p.(=)" ""
"0000563662" "00025303" "70" "-17717" "0" "-17717" "0" "c.-17717G>A" "r.(?)" "p.(=)" ""
"0000563663" "00025303" "90" "-17717" "0" "-17717" "0" "c.-17717G>A" "r.(?)" "p.(=)" ""
"0000563664" "00025303" "30" "-17692" "0" "-17692" "0" "c.-17692dup" "r.(?)" "p.(=)" ""
"0000563665" "00025303" "30" "-17612" "0" "-17612" "0" "c.-17612G>A" "r.(?)" "p.(=)" ""
"0000563666" "00025303" "30" "-17601" "0" "-17601" "0" "c.-17601A>G" "r.(?)" "p.(=)" ""
"0000563667" "00025303" "30" "-17498" "0" "-17498" "0" "c.-17498G>A" "r.(?)" "p.(=)" ""
"0000563668" "00025303" "50" "-17480" "0" "-17480" "0" "c.-17480C>T" "r.(?)" "p.(=)" ""
"0000563669" "00025303" "90" "-17463" "0" "-17463" "0" "c.-17463G>C" "r.(?)" "p.(=)" ""
"0000563670" "00025303" "30" "-17417" "0" "-17417" "0" "c.-17417G>A" "r.(?)" "p.(=)" ""
"0000563671" "00025303" "10" "-17322" "0" "-17322" "0" "c.-17322C>T" "r.(?)" "p.(=)" ""
"0000563672" "00025303" "90" "-17308" "0" "-17308" "0" "c.-17308G>A" "r.(?)" "p.(=)" ""
"0000563673" "00025303" "90" "-17249" "0" "-17249" "0" "c.-17249A>G" "r.(?)" "p.(=)" ""
"0000563674" "00025303" "50" "-17243" "0" "-17243" "0" "c.-17243G>A" "r.(?)" "p.(=)" ""
"0000563675" "00025303" "70" "-17200" "0" "-17200" "0" "c.-17200dup" "r.(?)" "p.(=)" ""
"0000563676" "00025303" "30" "-17154" "0" "-17154" "0" "c.-17154G>A" "r.(?)" "p.(=)" ""
"0000563677" "00025303" "70" "-17090" "0" "-17090" "0" "c.-17090C>T" "r.(?)" "p.(=)" ""
"0000563678" "00025303" "50" "-17057" "0" "-17057" "0" "c.-17057G>C" "r.(?)" "p.(=)" ""
"0000563679" "00025303" "50" "-17053" "0" "-17053" "0" "c.-17053G>A" "r.(?)" "p.(=)" ""
"0000563680" "00025303" "50" "-17018" "0" "-17018" "0" "c.-17018A>G" "r.(?)" "p.(=)" ""
"0000563681" "00025303" "50" "-16941" "0" "-16941" "0" "c.-16941G>T" "r.(?)" "p.(=)" ""
"0000563682" "00025303" "30" "-16491" "0" "-16491" "0" "c.-16491G>A" "r.(?)" "p.(=)" ""
"0000563683" "00025303" "70" "-16478" "0" "-16478" "0" "c.-16478A>G" "r.(?)" "p.(=)" ""
"0000563684" "00025303" "70" "-16463" "0" "-16463" "0" "c.-16463G>A" "r.(?)" "p.(=)" ""
"0000563685" "00025303" "30" "-16199" "0" "-16199" "0" "c.-16199G>A" "r.(?)" "p.(=)" ""
"0000563686" "00025303" "30" "-16169" "0" "-16169" "0" "c.-16169G>A" "r.(?)" "p.(=)" ""
"0000563687" "00025303" "30" "-15924" "0" "-15924" "0" "c.-15924G>A" "r.(?)" "p.(=)" ""
"0000563688" "00025303" "10" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Leu16=)" ""
"0000563689" "00025303" "10" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" ""
"0000563690" "00025303" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" ""
"0000563691" "00025303" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Met)" ""
"0000563692" "00025303" "30" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Gly112Arg)" ""
"0000563693" "00025303" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Ser119=)" ""
"0000563694" "00025303" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" ""
"0000563695" "00025303" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" ""
"0000563696" "00025303" "10" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Ala173=)" ""
"0000563697" "00025303" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(His289=)" ""
"0000563698" "00025303" "10" "984" "-7" "984" "-7" "c.984-7C>T" "r.(=)" "p.(=)" ""
"0000563699" "00025303" "50" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Cys)" ""
"0000563700" "00025303" "30" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Met)" ""
"0000563701" "00025303" "10" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Pro391Leu)" ""
"0000563702" "00025303" "50" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411His)" ""
"0000563703" "00025303" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Asp427=)" ""
"0000563704" "00025303" "50" "1288" "0" "1288" "0" "c.1288C>G" "r.(?)" "p.(Arg430Gly)" ""
"0000616913" "00025303" "30" "-17710" "0" "-17710" "0" "c.-17710G>C" "r.(?)" "p.(=)" ""
"0000616914" "00025303" "30" "-17178" "0" "-17178" "0" "c.-17178G>T" "r.(?)" "p.(=)" ""
"0000616915" "00025303" "70" "-17140" "0" "-17140" "0" "c.-17140A>G" "r.(?)" "p.(=)" ""
"0000616916" "00025303" "30" "-17133" "0" "-17133" "0" "c.-17133G>C" "r.(?)" "p.(=)" ""
"0000616917" "00025303" "50" "-16589" "0" "-16589" "0" "c.-16589dup" "r.(?)" "p.(=)" ""
"0000616918" "00025303" "30" "-16419" "0" "-16419" "0" "c.-16419G>A" "r.(?)" "p.(=)" ""
"0000616919" "00025303" "30" "-16259" "0" "-16259" "0" "c.-16259G>C" "r.(?)" "p.(=)" ""
"0000616920" "00025303" "30" "-16216" "0" "-16216" "0" "c.-16216G>A" "r.(?)" "p.(=)" ""
"0000616921" "00025303" "30" "-16165" "0" "-16165" "0" "c.-16165G>A" "r.(?)" "p.(=)" ""
"0000616922" "00025303" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Glu73Gly)" ""
"0000616923" "00025303" "50" "1002" "0" "1003" "0" "c.1002_1003insAT" "r.(?)" "p.(Glu335MetfsTer10)" ""
"0000616924" "00025303" "30" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Leu413Pro)" ""
"0000623791" "00025303" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Val133Met)" ""
"0000623792" "00025303" "30" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Asp434=)" ""
"0000649750" "00025303" "10" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(His138Tyr)" ""
"0000649751" "00025303" "10" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Ala323Thr)" ""
"0000658297" "00025303" "30" "984" "-10" "984" "-10" "c.984-10C>T" "r.(=)" "p.(=)" ""
"0000681073" "00025303" "30" "-17566" "0" "-17566" "0" "c.-17566C>G" "r.(?)" "p.(=)" ""
"0000681074" "00025303" "50" "-17541" "0" "-17541" "0" "c.-17541G>A" "r.(?)" "p.(=)" ""
"0000681075" "00025303" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Asp164=)" ""
"0000684427" "00025303" "30" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "1"
"0000685836" "00025303" "50" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Trp)" ""
"0000692518" "00025303" "30" "-17710" "0" "-17710" "0" "c.-17710G>T" "r.(?)" "p.(=)" ""
"0000692519" "00025303" "50" "-17438" "0" "-17438" "0" "c.-17438C>T" "r.(?)" "p.(=)" ""
"0000692520" "00025303" "30" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Ala173=)" ""
"0000692521" "00025303" "50" "883" "0" "883" "0" "c.883C>A" "r.(?)" "p.(Gln295Lys)" ""
"0000692522" "00025303" "30" "1345" "12" "1345" "29" "c.1345+12_1345+29del" "r.(=)" "p.(=)" ""
"0000704031" "00025303" "00" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(Ser70Argfs*75)" "1"
"0000711693" "00025303" "10" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(His138Tyr)" "1"
"0000726766" "00025303" "50" "-17089" "0" "-17089" "0" "c.-17089G>A" "r.(?)" "p.(=)" ""
"0000726767" "00025303" "50" "-17027" "0" "-17027" "0" "c.-17027G>A" "r.(?)" "p.(=)" ""
"0000726768" "00025303" "70" "-16260" "0" "-16260" "0" "c.-16260C>A" "r.(?)" "p.(=)" ""
"0000732449" "00025303" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Met)" ""
"0000732492" "00025303" "50" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Arg192=)" ""
"0000734341" "00025303" "70" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" ""
"0000734687" "00025303" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000735928" "00025303" "70" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Cys303Tyr)" ""
"0000736404" "00025303" "10" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" "1"
"0000736405" "00025303" "10" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "1"
"0000736406" "00025303" "10" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Pro231Ser)" "1"
"0000736407" "00025303" "10" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Ala323Thr)" "2"
"0000736408" "00025303" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "5"
"0000736835" "00025303" "30" "1071" "0" "1073" "0" "c.1071_1073del" "r.(?)" "p.(Lys357del)" ""
"0000785537" "00025303" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000788409" "00025303" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "5"
"0000788508" "00025303" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "1"
"0000790427" "00025303" "70" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Pro156Leu)" ""
"0000790428" "00025303" "70" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Thr25GlnfsTer120)" ""
"0000790626" "00025303" "50" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" ""
"0000793743" "00025303" "50" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Trp)" "1"
"0000794698" "00025303" "70" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Met)" ""
"0000795922" "00025303" "70" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Pro231Ser)" "1"
"0000796676" "00025303" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Cys)" "1"
"0000796717" "00025303" "70" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "1"
"0000796724" "00025303" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(His138Tyr)" "1"
"0000796764" "00025303" "70" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Phe)" "1"
"0000796852" "00025303" "70" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Trp)" "1"
"0000796854" "00025303" "70" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Met)" "1"
"0000796863" "00025303" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ala216Val)" "1"
"0000798132" "00025303" "50" "1345" "6" "1345" "10" "c.1345+6_1345+10dup" "r.(spl?)" "p.(?)" ""
"0000808334" "00025303" "50" "-17727" "0" "-17727" "0" "c.-17727G>A" "r.(?)" "p.(=)" ""
"0000808335" "00025303" "50" "-17243" "0" "-17243" "0" "c.-17243G>A" "r.(?)" "p.(=)" ""
"0000808336" "00025303" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Arg103=)" ""
"0000808337" "00025303" "30" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Thr114Ala)" ""
"0000815422" "00025303" "50" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Pro204Arg)" ""
"0000815429" "00025303" "50" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Gly369Arg)" ""
"0000818976" "00025303" "50" "827" "-1" "983" "1" "c.(826+1_827-1)_(983+1_984-1)del" "r.?" "p.?" "1i_2i"
"0000855161" "00025303" "70" "-17745" "0" "-17745" "0" "c.-17745G>C" "r.(?)" "p.(=)" ""
"0000855162" "00025303" "30" "-16932" "0" "-16932" "0" "c.-16932C>T" "r.(?)" "p.(=)" ""
"0000855163" "00025303" "50" "182" "0" "182" "0" "c.182G>T" "r.(?)" "p.(Arg61Leu)" ""
"0000855164" "00025303" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Met)" ""
"0000855165" "00025303" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" ""
"0000855166" "00025303" "50" "1074" "0" "1074" "0" "c.1074T>A" "r.(?)" "p.(Asn358Lys)" ""
"0000855167" "00025303" "50" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Leu413Pro)" ""
"0000855168" "00025303" "30" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Ala512Val)" ""
"0000865559" "00025303" "30" "-17196" "0" "-17196" "0" "c.-17196G>A" "r.(?)" "p.(=)" ""
"0000865560" "00025303" "30" "-16169" "0" "-16169" "0" "c.-16169G>A" "r.(?)" "p.(=)" ""
"0000865561" "00025303" "30" "1346" "-5" "1346" "-5" "c.1346-5C>T" "r.spl?" "p.?" ""
"0000894351" "00025303" "70" "-17734" "0" "-17734" "0" "c.-17734C>A" "r.(?)" "p.(=)" ""
"0000894352" "00025303" "30" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Leu413Pro)" ""
"0000894353" "00025303" "10" "5434" "0" "5434" "0" "c.*3883C>T" "r.(=)" "p.(=)" ""
"0000926677" "00025303" "30" "-17263" "0" "-17263" "0" "c.-17263C>G" "r.(?)" "p.(=)" ""
"0000930907" "00025303" "50" "-16972" "0" "-16965" "0" "c.-16972_-16965del" "r.(?)" "p.(=)" ""
"0000951068" "00025303" "30" "984" "-7" "984" "-7" "c.984-7C>T" "r.(=)" "p.(=)" ""
"0000969279" "00025303" "50" "-17451" "0" "-17451" "0" "c.-17451G>A" "r.(?)" "p.(=)" ""
"0000969281" "00025303" "30" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Met)" ""
"0000982897" "00025303" "30" "-16222" "0" "-16222" "0" "c.-16222G>A" "r.(?)" "p.(=)" ""
"0000982898" "00025303" "30" "-16174" "0" "-16174" "0" "c.-16174G>A" "r.(?)" "p.(=)" ""
"0000982899" "00025303" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" ""
"0001027077" "00025303" "50" "-17709" "0" "-17709" "0" "c.-17709G>C" "r.(?)" "p.(=)" ""
"0001027078" "00025303" "90" "-17315" "0" "-17315" "0" "c.-17315G>A" "r.(?)" "p.(=)" ""
"0001027079" "00025303" "50" "-16260" "0" "-16260" "0" "c.-16260C>A" "r.(?)" "p.(=)" ""
"0001042274" "00025303" "30" "-17690" "0" "-17690" "0" "c.-17690A>C" "r.(?)" "p.(=)" ""
"0001042275" "00025303" "30" "-16383" "0" "-16383" "0" "c.-16383G>A" "r.(?)" "p.(=)" ""
"0001042276" "00025303" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Pro2Leu)" ""
"0001042277" "00025303" "50" "1196" "0" "1196" "0" "c.1196C>G" "r.(?)" "p.(Thr399Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 60
"{{screeningid}}" "{{variantid}}"
"0000171732" "0000392085"
"0000234576" "0000477284"
"0000234577" "0000477285"
"0000234578" "0000477286"
"0000234579" "0000477287"
"0000234580" "0000477288"
"0000234581" "0000477289"
"0000234582" "0000477290"
"0000234583" "0000477291"
"0000234584" "0000477292"
"0000234585" "0000477293"
"0000234586" "0000477294"
"0000234587" "0000477295"
"0000234588" "0000477296"
"0000234589" "0000477297"
"0000234590" "0000477298"
"0000234591" "0000477299"
"0000234592" "0000477300"
"0000234593" "0000477301"
"0000234594" "0000477302"
"0000234595" "0000477303"
"0000234596" "0000477304"
"0000234897" "0000477605"
"0000293061" "0000649750"
"0000293062" "0000649751"
"0000309562" "0000684427"
"0000310814" "0000685836"
"0000321225" "0000704031"
"0000327900" "0000711693"
"0000334577" "0000732449"
"0000334585" "0000732492"
"0000335647" "0000734341"
"0000335788" "0000734687"
"0000336532" "0000735928"
"0000336866" "0000736404"
"0000336867" "0000736405"
"0000336868" "0000736406"
"0000336869" "0000736407"
"0000336870" "0000736408"
"0000337205" "0000736835"
"0000374714" "0000785537"
"0000376615" "0000788409"
"0000376630" "0000788508"
"0000377977" "0000790427"
"0000377978" "0000790428"
"0000377996" "0000790626"
"0000380597" "0000793743"
"0000381299" "0000794698"
"0000382208" "0000795922"
"0000382815" "0000796676"
"0000382834" "0000796717"
"0000382839" "0000796724"
"0000382855" "0000796764"
"0000382897" "0000796852"
"0000382899" "0000796854"
"0000382904" "0000796863"
"0000383849" "0000798132"
"0000387393" "0000815422"
"0000387419" "0000815429"
"0000389742" "0000818976"