### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEMA4A) # 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}}" "SEMA4A" "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A" "1" "q22" "unknown" "NG_027683.1" "UD_132118258598" "" "http://www.LOVD.nl/SEMA4A" "" "1" "10729" "64218" "607292" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SEMA4A_NM_022367.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-02-13 00:00:00" "00006" "2024-01-25 12:23:42" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024021" "SEMA4A" "transcript variant 3" "003" "NM_001193301.1" "" "NP_001180230.1" "" "" "" "-179" "3040" "2286" "156119735" "156147542" "00006" "2015-02-27 17:54:17" "" "" "00025895" "SEMA4A" "transcript variant 1" "004" "NM_022367.3" "" "NP_071762.2" "" "" "" "-263" "3040" "2286" "156123322" "156147542" "00006" "2024-01-25 12:21:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02926" "RP35" "retinitis pigmentosa, type 35 (RP35)" "AD;AR" "610282" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02927" "CORD10" "dystrophy, cone-rod, type 10 (CORD-10)" "AR" "610283" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SEMA4A" "02926" "SEMA4A" "02927" ## Individuals ## Do not remove or alter this header ## ## Count = 70 "{{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}}" "00033091" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033093" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033097" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033106" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033110" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033117" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033125" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033135" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033138" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033143" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033144" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033148" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033149" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033153" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033164" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033367" "" "" "" "6" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033368" "" "" "" "11" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033369" "" "" "" "1" "" "00234" "" "2 generation family 1 affected, 2 unaffected carrier parents" "M" "no" "Pakistan" "" "0" "" "" "" "" "00033370" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033371" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033372" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033373" "" "" "" "13" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033374" "" "" "" "9" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033375" "" "" "" "4" "" "00234" "" "2 generation family 4 affected, 2 normal" "M" "no" "Pakistan" "" "0" "" "" "" "" "00033376" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033377" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033378" "" "" "" "1" "" "00234" "" "" "?" "?" "Pakistan" "" "0" "" "" "" "" "00231982" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231983" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231984" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231985" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231986" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231987" "" "" "" "147" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231988" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231989" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231990" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231991" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233602" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00276092" "" "" "" "1" "" "03308" "" "" "?" "no" "Spain" "?" "" "" "" "European Non-Finish" "" "00276094" "" "" "" "1" "" "03308" "" "" "?" "" "Spain" "" "" "" "" "European Non-Finish" "" "00289541" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289542" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304147" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308379" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC05563" "00308380" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC07563" "00328419" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690899" "00332050" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat188" "00333355" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat15" "00372645" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP289" "00372694" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP301" "00372702" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "QT367" "00375421" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#013" "00376785" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "52" "00379431" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379700" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0012" "00379706" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0019" "00381642" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Turkey" "" "0" "" "" "" "" "00381817" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00386182" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-139, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-296" "00386296" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-GB, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-60" "00389160" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 142, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "444" "00389498" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 303, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "782" "00389499" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 303, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "783" "00389517" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 318, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "801" "00389620" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 381, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "904" "00403260" "" "" "" "1" "" "00000" "{PMID:Men-2017:29062221}" "" "M" "" "(United States)" "" "0" "" "" "" "Patient 1" "00446997" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-450" "00447376" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-427" "00447494" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-186" "00447535" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-783" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00033091" "04214" "00033093" "04214" "00033097" "04214" "00033106" "04214" "00033110" "04214" "00033117" "04214" "00033125" "04214" "00033135" "04214" "00033138" "04214" "00033143" "04214" "00033144" "04214" "00033148" "04214" "00033149" "04214" "00033153" "04214" "00033164" "04214" "00033367" "00000" "00033368" "00000" "00033369" "00058" "00033370" "00058" "00033371" "04214" "00033372" "04214" "00033373" "00000" "00033374" "00000" "00033375" "04214" "00033376" "04214" "00033377" "04214" "00033378" "00198" "00231982" "04214" "00231983" "04214" "00231984" "04214" "00231985" "04214" "00231986" "04214" "00231987" "04214" "00231988" "04214" "00231989" "04214" "00231990" "04214" "00231991" "04214" "00233602" "04214" "00276092" "05464" "00276094" "05464" "00289541" "00198" "00289542" "00198" "00304147" "00198" "00308379" "04214" "00308380" "04214" "00328419" "04214" "00332050" "04214" "00333355" "04214" "00372645" "04214" "00372694" "04214" "00372702" "04214" "00375421" "04214" "00376785" "04214" "00379431" "04214" "00379700" "04214" "00379706" "04214" "00381642" "04214" "00381817" "04214" "00386182" "04214" "00386296" "04214" "00389160" "04214" "00389498" "04214" "00389499" "04214" "00389517" "04214" "00389620" "04214" "00403260" "04214" "00446997" "00198" "00447376" "00198" "00447494" "00198" "00447535" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00198, 02926, 02927, 04214, 05464 ## Count = 56 "{{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}}" "0000026520" "04214" "00033091" "00229" "Unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026522" "04214" "00033093" "00229" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026526" "04214" "00033097" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026535" "04214" "00033106" "00229" "Unknown" "68y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026539" "04214" "00033110" "00229" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026546" "04214" "00033117" "00229" "Unknown" "" "secundary photoreceptor damage due to uveÔtis ODS" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026554" "04214" "00033125" "00229" "Unknown" "5y" "early onset; mild intellectual disability, obesitas" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026564" "04214" "00033135" "00229" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026567" "04214" "00033138" "00229" "Unknown" "" "hypertension" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026572" "04214" "00033143" "00229" "Unknown" "43y" "diabetes mellitus, hypertension, hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026573" "04214" "00033144" "00229" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026577" "04214" "00033148" "00229" "Unknown" "45y" "Mantle cell lymphoma" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026578" "04214" "00033149" "00229" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026582" "04214" "00033153" "00229" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026593" "04214" "00033164" "00229" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026796" "00000" "00033367" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026797" "00000" "00033368" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026798" "00058" "00033369" "00234" "Familial, autosomal recessive" "" "Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light" "" "" "" "" "" "" "" "" "" "" "" "0000026799" "00058" "00033370" "00234" "Familial, autosomal recessive" "" "Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light" "" "" "" "" "" "" "" "" "" "" "" "0000026800" "04214" "00033371" "00234" "Familial, autosomal recessive" "" "Bony corpuscle-type pigmentation, attenuated blood vessels; Onset Night blindness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026801" "04214" "00033372" "00234" "Familial, autosomal recessive" "" "Bony corpuscle-type pigmentation, attenuated blood vessels; Onset Night blindness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026802" "00000" "00033373" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026803" "00000" "00033374" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026804" "04214" "00033375" "00234" "Familial, autosomal dominant" "" "Bony corpuscle-type pigmentation, attenuated blood vessels; Onset Night blindness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026805" "04214" "00033376" "00234" "Familial, autosomal dominant" "" "Bony corpuscle-type pigmentation, attenuated blood vessels; Onset Night blindness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026806" "04214" "00033377" "00234" "Familial, autosomal dominant" "" "Bony corpuscle-type pigmentation, attenuated blood vessels; Onset Night blindness" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026807" "00198" "00033378" "00234" "Familial, autosomal dominant" "" "blindness" "" "" "" "" "" "" "" "" "" "" "" "0000210686" "05464" "00276092" "03308" "Unknown" "" "" "" "52y" "CRC" "" "" "" "" "" "" "" "Proband\'s phenotype: 2x colorectal cancer (52, 59)\r\nFamily history – 2nd degree affected relatives: lymphoma (9); breast cancer (46)" "0000210687" "05464" "00276094" "03308" "Unknown" "" "" "48y" "" "" "" "" "" "" "" "" "" "Proband\'s phenotype: colorectal cancer (48)\r\nFamily history– 2nd degree affected relatives:\r\ncolorectal cancer (64) & ovarian cancer (73); liver cancer (60)" "0000233806" "04214" "00308379" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233807" "04214" "00308380" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246645" "04214" "00328419" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000250241" "04214" "00332050" "00000" "Familial, autosomal dominant" "48y" "reduced visual acuity; EOG borderline; scotopic ERG normalreduced; photopic ERG borderline" "44y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000251542" "04214" "00333355" "00000" "Familial, autosomal dominant" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267924" "04214" "00372645" "00000" "Isolated (sporadic)" "28y" "see paper; ..." "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267973" "04214" "00372694" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267981" "04214" "00372702" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270635" "04214" "00375421" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271996" "04214" "00376785" "00000" "Familial, X-linked" "18y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273304" "04214" "00379431" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273545" "04214" "00379700" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273551" "04214" "00379706" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000275484" "04214" "00381642" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275659" "04214" "00381817" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000279985" "04214" "00386182" "00000" "Familial, X-linked" "12y" "" "" "3y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280099" "04214" "00386296" "00000" "Familial, X-linked dominant" "66y" "" "" "40y" "" "" "" "" "" "" "atypical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000282701" "04214" "00389160" "00000" "Familial, autosomal dominant" "63y" "age at genetic diagnosis mentioned" "" "59y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000283039" "04214" "00389498" "00000" "Familial, autosomal dominant" "44y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283040" "04214" "00389499" "00000" "Familial, autosomal dominant" "60y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283058" "04214" "00389517" "00000" "Familial, autosomal dominant" "65y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283161" "04214" "00389620" "00000" "Isolated (sporadic)" "69y" "age at genetic diagnosis mentioned" "" "64y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000296002" "04214" "00403260" "00000" "Familial, X-linked" "3m" "nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB2)" "Leber congenital amaurosis (LCA)" "" "0000336196" "00198" "00446997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336575" "00198" "00447376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336693" "00198" "00447494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336734" "00198" "00447535" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033159" "00033091" "1" "00229" "00229" "2012-02-04 16:07:37" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033161" "00033093" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033165" "00033097" "1" "00229" "00229" "2012-03-02 15:59:06" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033174" "00033106" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033178" "00033110" "1" "00229" "00229" "2012-03-02 15:59:06" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033185" "00033117" "1" "00229" "00229" "2012-03-02 15:59:06" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033193" "00033125" "1" "00229" "00229" "2012-02-13 08:16:28" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033203" "00033135" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033206" "00033138" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033211" "00033143" "1" "00229" "00229" "2012-02-04 14:52:54" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033212" "00033144" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033216" "00033148" "1" "00229" "00229" "2012-02-13 21:46:30" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033217" "00033149" "1" "00229" "00229" "2012-03-02 15:59:06" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033221" "00033153" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033232" "00033164" "1" "00229" "00229" "2012-03-02 15:59:06" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033435" "00033367" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033436" "00033368" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033437" "00033369" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033438" "00033370" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033439" "00033371" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033440" "00033372" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033441" "00033373" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033442" "00033374" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033443" "00033375" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033444" "00033376" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033445" "00033377" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000033446" "00033378" "1" "00234" "00234" "2012-09-21 18:23:55" "" "" "SSCA;SEQ;PCR;PAGE" "DNA" "" "" "0000233081" "00231982" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233082" "00231983" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233083" "00231984" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233084" "00231985" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233085" "00231986" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233086" "00231987" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233087" "00231988" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233088" "00231989" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233089" "00231990" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233090" "00231991" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234701" "00233602" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000277237" "00276092" "1" "03308" "03308" "2020-01-27 10:37:01" "" "" "PCR" "DNA" "blood" "" "0000277239" "00276094" "1" "03308" "03308" "2020-01-27 10:52:32" "" "" "PCR" "DNA" "blood" "" "0000290709" "00289541" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290710" "00289542" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305276" "00304147" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309523" "00308379" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309524" "00308380" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000329633" "00328419" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000333269" "00332050" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000334580" "00333355" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000373877" "00372645" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373926" "00372694" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373934" "00372702" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376618" "00375421" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377991" "00376785" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000380631" "00379431" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380902" "00379700" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000380908" "00379706" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000382858" "00381642" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000383033" "00381817" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000387411" "00386182" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387525" "00386296" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000390403" "00389160" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390741" "00389498" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390742" "00389499" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390760" "00389517" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390863" "00389620" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000404501" "00403260" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000448574" "00446997" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448953" "00447376" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449071" "00447494" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449112" "00447535" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{geneid}}" "0000033159" "CC2D2A" "0000033159" "CRB1" "0000033159" "RP2" "0000033159" "SEMA4A" "0000033159" "TOPORS" "0000033161" "ABCA4" "0000033161" "CRB1" "0000033161" "SEMA4A" "0000033161" "TOPORS" "0000033165" "SEMA4A" "0000033174" "CRB1" "0000033174" "PDE6B" "0000033174" "SEMA4A" "0000033178" "SEMA4A" "0000033185" "SEMA4A" "0000033193" "C2orf71" "0000033193" "SEMA4A" "0000033193" "SNRNP200" "0000033203" "CACNA1F" "0000033203" "SEMA4A" "0000033206" "GUCY2D" "0000033206" "PDE6B" "0000033206" "RP1" "0000033206" "SEMA4A" "0000033211" "CEP290" "0000033211" "SEMA4A" "0000033212" "CRB1" "0000033212" "PDE6B" "0000033212" "SEMA4A" "0000033216" "RPGR" "0000033216" "SEMA4A" "0000033217" "SEMA4A" "0000033221" "ABCA4" "0000033221" "SEMA4A" "0000033232" "SEMA4A" "0000033435" "SEMA4A" "0000033436" "SEMA4A" "0000033437" "SEMA4A" "0000033438" "SEMA4A" "0000033439" "SEMA4A" "0000033440" "SEMA4A" "0000033441" "SEMA4A" "0000033442" "SEMA4A" "0000033443" "SEMA4A" "0000033444" "SEMA4A" "0000033445" "SEMA4A" "0000033446" "SEMA4A" "0000233081" "SEMA4A" "0000233082" "SEMA4A" "0000233083" "SEMA4A" "0000233084" "SEMA4A" "0000233085" "SEMA4A" "0000233086" "SEMA4A" "0000233087" "SEMA4A" "0000233088" "SEMA4A" "0000233089" "SEMA4A" "0000233090" "SEMA4A" "0000234701" "SEMA4A" "0000277237" "SEMA4A" "0000277239" "SEMA4A" "0000309523" "SEMA4A" "0000309524" "SEMA4A" "0000329633" "SEMA4A" "0000333269" "SEMA4A" "0000334580" "SNRNP200" "0000380631" "SEMA4A" "0000380902" "ADAMTS18" "0000380908" "HSPG2" "0000382858" "AIPL1" "0000383033" "SEMA4A" "0000387411" "RPGR" "0000387525" "RPGR" "0000390403" "SEMA4A" "0000390741" "SEMA4A" "0000390742" "SEMA4A" "0000390760" "SEMA4A" "0000390863" "SEMA4A" "0000404501" "CACNA1F" ## 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 = 121 "{{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}}" "0000060488" "1" "50" "1" "156146546" "156146546" "subst" "0.00946356" "00229" "SEMA4A_000001" "g.156146546C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.156176755C>T" "" "VUS" "" "0000060489" "1" "50" "1" "156146546" "156146546" "subst" "0.00946356" "00229" "SEMA4A_000001" "g.156146546C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.156176755C>T" "" "VUS" "" "0000060490" "1" "50" "1" "156146546" "156146546" "subst" "0.00946356" "00229" "SEMA4A_000001" "g.156146546C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.156176755C>T" "" "VUS" "" "0000060491" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other families" "Germline" "yes" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060492" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060493" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060494" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060495" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060496" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060497" "2" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign, disease-related variants in other gene; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060498" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060499" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060500" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060501" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060502" "1" "10" "1" "156146640" "156146640" "subst" "0.0375289" "00229" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000060503" "21" "70" "1" "156146640" "156146640" "subst" "0.0375289" "00234" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Abid 2006:16199541}" "" "CGG>CAG" "not in 200 control chromosomes; hetrozygous missense mutation" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "likely pathogenic" "" "0000060504" "1" "70" "1" "156146640" "156146640" "subst" "0.0375289" "00234" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Abid 2006:16199541}" "" "CGG>CAG" "not in 200 control chromosomes; hetrozygous missense mutation" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "likely pathogenic" "" "0000060505" "1" "70" "1" "156146640" "156146640" "subst" "0.0375289" "00234" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Abid 2006:16199541}" "" "CGG>CAG" "not in 200 control chromosomes; hetrozygous missense mutation" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "likely pathogenic" "" "0000060506" "1" "70" "1" "156146640" "156146640" "subst" "0.0375289" "00234" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Abid 2006:16199541}" "" "CGG>CAG" "not in 200 control chromosomes; hetrozygous missense mutation" "Germline" "" "" "0" "" "" "g.156176849G>A" "" "likely pathogenic" "" "0000060507" "1" "50" "1" "156128493" "156128493" "subst" "0" "00229" "SEMA4A_000003" "g.156128493C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted unknown, disease-related variants in other gene" "Germline" "" "" "0" "" "" "g.156158702C>A" "" "VUS" "" "0000060508" "0" "30" "1" "156124408" "156124408" "subst" "0" "00234" "SEMA4A_000004" "g.156124408C>A" "" "{PMID:Abid 2006:16199541}" "" "CTC>CTA (L13L)" "" "Germline" "" "" "0" "" "" "g.156154617C>A" "" "likely benign" "" "0000060509" "0" "30" "1" "156130772" "156130772" "subst" "0" "00234" "SEMA4A_000005" "g.156130772T>C" "" "{PMID:Abid 2006:16199541}" "" "TTT>TTC" "" "Germline" "" "" "0" "" "" "g.156160981T>C" "" "likely benign" "" "0000060510" "11" "70" "1" "156132784" "156132784" "subst" "0" "00234" "SEMA4A_000006" "g.156132784G>C" "" "{PMID:Abid 2006:16199541}" "" "c.345GAC>CAC" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156162993G>C" "" "likely pathogenic" "" "0000060511" "1" "70" "1" "156132784" "156132784" "subst" "0" "00234" "SEMA4A_000006" "g.156132784G>C" "" "{PMID:Abid 2006:16199541}" "" "c.345GAC>CAC" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156162993G>C" "" "likely pathogenic" "" "0000060512" "1" "70" "1" "156132784" "156132784" "subst" "0" "00234" "SEMA4A_000006" "g.156132784G>C" "" "{PMID:Abid 2006:16199541}" "" "c.345GAC>CAC" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156162993G>C" "" "likely pathogenic" "" "0000060513" "1" "70" "1" "156132784" "156132784" "subst" "0" "00234" "SEMA4A_000006" "g.156132784G>C" "" "{PMID:Abid 2006:16199541}" "" "c.345GAC>CAC" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156162993G>C" "" "likely pathogenic" "" "0000060514" "21" "70" "1" "156132800" "156132800" "subst" "0" "00234" "SEMA4A_000007" "g.156132800T>G" "" "{PMID:Abid 2006:16199541}" "" "c.350TTT>TGT" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156163009T>G" "" "likely pathogenic" "" "0000060515" "2" "70" "1" "156132800" "156132800" "subst" "0" "00234" "SEMA4A_000007" "g.156132800T>G" "" "{PMID:Abid 2006:16199541}" "" "c.350TTT>TGT" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156163009T>G" "" "likely pathogenic" "" "0000060516" "2" "70" "1" "156132800" "156132800" "subst" "0" "00234" "SEMA4A_000007" "g.156132800T>G" "" "{PMID:Abid 2006:16199541}" "" "c.350TTT>TGT" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156163009T>G" "" "likely pathogenic" "" "0000060517" "2" "70" "1" "156132800" "156132800" "subst" "0" "00234" "SEMA4A_000007" "g.156132800T>G" "" "{PMID:Abid 2006:16199541}" "" "c.350TTT>TGT" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.156163009T>G" "" "likely pathogenic" "" "0000060518" "0" "30" "1" "156132912" "156132913" "del" "0" "00234" "SEMA4A_000008" "g.156132912_156132913del" "0.11" "{PMID:Abid 2006:16199541}" "" "CA del 26bp downstream of exon" "13/190 patients, 11 controls (all heterozygous)" "Germline" "" "" "0" "" "" "g.156163121_156163122del" "" "likely benign" "" "0000060519" "0" "30" "1" "156146218" "156146218" "subst" "0.528604" "00234" "SEMA4A_000009" "g.156146218C>T" "" "{PMID:Abid 2006:16199541}" "" "CCC>CCT" "" "Germline" "" "" "0" "" "" "g.156176427C>T" "" "likely benign" "" "0000254720" "0" "30" "1" "156130257" "156130257" "subst" "4.06062E-5" "01943" "SEMA4A_000015" "g.156130257A>G" "" "" "" "SEMA4A(NM_022367.4):c.592A>G (p.M198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156160466A>G" "" "likely benign" "" "0000295714" "0" "10" "1" "156132762" "156132762" "subst" "2.03031E-5" "02330" "SEMA4A_000016" "g.156132762G>A" "" "" "" "SEMA4A(NM_001193300.1):c.1011G>A (p.A337=), SEMA4A(NM_022367.4):c.1011G>A (p.A337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156162971G>A" "" "benign" "" "0000295715" "0" "10" "1" "156144743" "156144743" "subst" "0.00115321" "02330" "SEMA4A_000018" "g.156144743C>A" "" "" "" "SEMA4A(NM_022367.4):c.1434+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156174952C>A" "" "benign" "" "0000295716" "0" "10" "1" "156146640" "156146640" "subst" "0.0375289" "02330" "SEMA4A_000002" "g.156146640G>A" "" "" "" "SEMA4A(NM_022367.4):c.2138G>A (p.R713Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176849G>A" "" "benign" "" "0000295717" "0" "50" "1" "156146669" "156146669" "subst" "3.6547E-5" "02330" "SEMA4A_000020" "g.156146669C>A" "" "" "" "SEMA4A(NM_022367.4):c.2167C>A (p.R723S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176878C>A" "" "VUS" "" "0000295718" "0" "30" "1" "156146669" "156146669" "subst" "0.00547393" "02330" "SEMA4A_000021" "g.156146669C>T" "" "" "" "SEMA4A(NM_001370571.1):c.1660C>T (p.R554C), SEMA4A(NM_022367.4):c.2167C>T (p.R723C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176878C>T" "" "likely benign" "" "0000295719" "0" "10" "1" "156128250" "156128250" "subst" "4.06058E-5" "02330" "SEMA4A_000012" "g.156128250C>T" "" "" "" "SEMA4A(NM_022367.4):c.435C>T (p.F145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156158459C>T" "" "benign" "" "0000295720" "0" "30" "1" "156128541" "156128541" "subst" "5.68486E-5" "02330" "SEMA4A_000014" "g.156128541C>T" "" "" "" "SEMA4A(NM_022367.4):c.494C>T (p.S165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156158750C>T" "" "likely benign" "" "0000298099" "0" "10" "1" "156146218" "156146218" "subst" "0.528604" "02325" "SEMA4A_000009" "g.156146218C>T" "" "" "" "SEMA4A(NM_022367.4):c.1716C>T (p.P572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176427C>T" "" "benign" "" "0000299395" "0" "50" "1" "156126312" "156126312" "subst" "4.06091E-5" "02329" "SEMA4A_000010" "g.156126312G>C" "" "" "" "SEMA4A(NM_022367.4):c.247G>C (p.A83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156156521G>C" "" "VUS" "" "0000307879" "0" "50" "1" "156142783" "156142783" "subst" "0.000337448" "01943" "SEMA4A_000017" "g.156142783T>C" "" "" "" "SEMA4A(NM_022367.4):c.1301T>C (p.M434T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156172992T>C" "" "VUS" "" "0000307880" "0" "30" "1" "156146188" "156146188" "subst" "0" "01943" "SEMA4A_000019" "g.156146188T>C" "" "" "" "SEMA4A(NM_022367.4):c.1694-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176397T>C" "" "likely benign" "" "0000307881" "0" "30" "1" "156146689" "156146689" "subst" "0.0155383" "01943" "SEMA4A_000022" "g.156146689G>A" "" "" "" "SEMA4A(NM_022367.4):c.2187G>A (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176898G>A" "" "likely benign" "" "0000307882" "0" "70" "1" "156126365" "156126365" "subst" "0" "01943" "SEMA4A_000011" "g.156126365G>A" "" "" "" "SEMA4A(NM_001193302.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156156574G>A" "" "likely pathogenic" "" "0000307883" "0" "30" "1" "156128539" "156128539" "subst" "0.000881147" "01943" "SEMA4A_000013" "g.156128539C>T" "" "" "" "SEMA4A(NM_022367.4):c.492C>T (p.I164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156158748C>T" "" "likely benign" "" "0000340926" "0" "10" "1" "156146218" "156146218" "subst" "0.528604" "02327" "SEMA4A_000009" "g.156146218C>T" "" "" "" "SEMA4A(NM_022367.4):c.1716C>T (p.P572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176427C>T" "" "benign" "" "0000346889" "0" "50" "1" "156124407" "156124407" "subst" "0.000197358" "02327" "SEMA4A_000023" "g.156124407T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156154616T>C" "" "VUS" "" "0000348543" "0" "50" "1" "156146471" "156146471" "subst" "0" "02327" "SEMA4A_000024" "g.156146471C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156176680C>G" "" "VUS" "" "0000475789" "0" "50" "1" "156126339" "156126339" "subst" "0" "02591" "SEMA4A_000025" "g.156126339C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156156548C>T" "" "VUS" "" "0000475790" "0" "50" "1" "156130691" "156130691" "subst" "2.8446E-5" "02591" "SEMA4A_000026" "g.156130691C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199654825" "0" "" "" "g.156160900C>T" "" "VUS" "" "0000475791" "0" "50" "1" "156130722" "156130722" "subst" "8.12262E-6" "02591" "SEMA4A_000027" "g.156130722C>T" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201715448" "0" "" "" "g.156160931C>T" "" "VUS" "" "0000475792" "0" "50" "1" "156144673" "156144673" "subst" "0" "02591" "SEMA4A_000028" "g.156144673A>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156174882A>G" "" "VUS" "" "0000475793" "0" "50" "1" "156144730" "156144730" "subst" "0" "02591" "SEMA4A_000029" "g.156144730A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156174939A>G" "" "VUS" "" "0000475794" "0" "10" "1" "156144971" "156144971" "subst" "0.00564396" "02591" "SEMA4A_000030" "g.156144971G>A" "147/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2075164" "0" "" "" "g.156175180G>A" "" "benign" "" "0000475795" "0" "50" "1" "156145373" "156145373" "subst" "0" "02591" "SEMA4A_000031" "g.156145373G>C" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156175582G>C" "" "VUS" "" "0000475796" "0" "50" "1" "156145400" "156145400" "subst" "6.57457E-5" "02591" "SEMA4A_000032" "g.156145400G>A" "6/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199696322" "0" "" "" "g.156175609G>A" "" "VUS" "" "0000475797" "0" "50" "1" "156146637" "156146637" "subst" "0" "02591" "SEMA4A_000033" "g.156146637C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156176846C>T" "" "VUS" "" "0000475798" "0" "50" "1" "156146684" "156146684" "subst" "0" "02591" "SEMA4A_000034" "g.156146684G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.156176893G>A" "" "VUS" "" "0000477409" "3" "10" "1" "156144971" "156144971" "subst" "0.00564396" "02591" "SEMA4A_000030" "g.156144971G>A" "8/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2075164" "0" "" "" "g.156175180G>A" "" "benign" "" "0000503782" "0" "50" "1" "156124389" "156124389" "subst" "0.000283662" "01943" "SEMA4A_000035" "g.156124389G>A" "" "" "" "SEMA4A(NM_022367.4):c.20G>A (p.G7D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156154598G>A" "" "VUS" "" "0000503783" "0" "30" "1" "156127850" "156127854" "del" "0" "02330" "SEMA4A_000036" "g.156127850_156127854del" "" "" "" "SEMA4A(NM_022367.4):c.301-11_301-7delCCCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156158059_156158063del" "" "likely benign" "" "0000503784" "0" "50" "1" "156128184" "156128184" "subst" "0" "01943" "SEMA4A_000037" "g.156128184G>C" "" "" "" "SEMA4A(NM_022367.4):c.369G>C (p.Q123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156158393G>C" "" "VUS" "" "0000503785" "0" "10" "1" "156130280" "156130280" "subst" "0" "02330" "SEMA4A_000038" "g.156130280G>A" "" "" "" "SEMA4A(NM_022367.4):c.615G>A (p.E205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156160489G>A" "" "benign" "" "0000503786" "0" "30" "1" "156130691" "156130691" "subst" "2.8446E-5" "01943" "SEMA4A_000026" "g.156130691C>T" "" "" "" "SEMA4A(NM_022367.4):c.686-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156160900C>T" "" "likely benign" "" "0000503787" "0" "50" "1" "156132763" "156132763" "subst" "4.06058E-6" "01943" "SEMA4A_000039" "g.156132763G>A" "" "" "" "SEMA4A(NM_022367.4):c.1012G>A (p.V338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156162972G>A" "" "VUS" "" "0000503788" "0" "50" "1" "156142788" "156142788" "subst" "8.13789E-6" "01943" "SEMA4A_000040" "g.156142788C>A" "" "" "" "SEMA4A(NM_022367.4):c.1306C>A (p.L436M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156172997C>A" "" "VUS" "" "0000503789" "0" "30" "1" "156142796" "156142796" "subst" "4.07488E-6" "01943" "SEMA4A_000041" "g.156142796C>A" "" "" "" "SEMA4A(NM_022367.4):c.1314C>A (p.T438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156173005C>A" "" "likely benign" "" "0000503790" "0" "30" "1" "156144717" "156144717" "subst" "4.06068E-6" "01943" "SEMA4A_000042" "g.156144717C>T" "" "" "" "SEMA4A(NM_022367.4):c.1420C>T (p.L474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156174926C>T" "" "likely benign" "" "0000503791" "0" "30" "1" "156145436" "156145436" "subst" "0.000359856" "01943" "SEMA4A_000043" "g.156145436G>A" "" "" "" "SEMA4A(NM_022367.4):c.1682G>A (p.R561H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156175645G>A" "" "likely benign" "" "0000503792" "0" "50" "1" "156146540" "156146540" "subst" "0.000130318" "02330" "SEMA4A_000044" "g.156146540T>C" "" "" "" "SEMA4A(NM_022367.4):c.2038T>C (p.Y680H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156176749T>C" "" "VUS" "" "0000604915" "0" "30" "1" "156132762" "156132762" "subst" "2.03031E-5" "01943" "SEMA4A_000016" "g.156132762G>A" "" "" "" "SEMA4A(NM_001193300.1):c.1011G>A (p.A337=), SEMA4A(NM_022367.4):c.1011G>A (p.A337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156162971G>A" "" "likely benign" "" "0000632004" "0" "50" "1" "156142719" "156142719" "subst" "2.43639E-5" "03308" "SEMA4A_000045" "g.156142719G>A" "" "" "" "" "" "Germline" "" "rs764520336" "0" "" "" "g.156172928G>A" "" "VUS" "" "0000632005" "0" "50" "1" "156144893" "156144893" "subst" "0.000576617" "03308" "SEMA4A_000046" "g.156144893G>C" "" "" "" "" "" "Germline" "?" "rs148744804" "0" "" "" "g.156175102G>C" "" "VUS" "" "0000647398" "1" "10" "1" "156146546" "156146546" "subst" "0.00946356" "03575" "SEMA4A_000001" "g.156146546C>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs76381440}" "Germline" "" "rs76381440" "0" "" "" "g.156176755C>T" "" "benign" "" "0000647399" "1" "30" "1" "156146640" "156146640" "subst" "0.0375289" "03575" "SEMA4A_000002" "g.156146640G>A" "170/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs41265017}" "Germline" "" "rs41265017" "0" "" "" "g.156176849G>A" "" "likely benign" "" "0000653782" "0" "30" "1" "156142697" "156142697" "subst" "0.000377637" "01943" "SEMA4A_000047" "g.156142697G>T" "" "" "" "SEMA4A(NM_001193300.1):c.1215G>T (p.T405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156172906G>T" "" "likely benign" "" "0000653783" "0" "30" "1" "156144859" "156144859" "subst" "0.000584753" "02330" "SEMA4A_000048" "g.156144859T>G" "" "" "" "SEMA4A(NM_001370571.1):c.928-18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156175068T>G" "" "likely benign" "" "0000668964" "3" "30" "1" "156146640" "156146640" "subst" "0.0375289" "03575" "SEMA4A_000002" "g.156146640G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs41265017}" "Germline" "" "rs41265017" "0" "" "" "g.156176849G>A" "" "likely benign" "" "0000675504" "0" "30" "1" "156126368" "156126368" "subst" "0" "01943" "SEMA4A_000049" "g.156126368G>A" "" "" "" "SEMA4A(NM_001193300.1):c.300+3G>A, SEMA4A(NM_001370571.1):c.-225+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684388" "1" "70" "1" "156127862" "156127862" "subst" "0.000158441" "00004" "SEMA4A_000051" "g.156127862T>C" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "rs149652495" "0" "" "" "g.156158071T>C" "" "likely pathogenic (dominant)" "" "0000684389" "3" "70" "1" "156126306" "156126306" "subst" "4.06141E-6" "00004" "SEMA4A_000050" "g.156126306C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.156156515C>T" "" "likely pathogenic (recessive)" "" "0000687903" "0" "30" "1" "156132837" "156132837" "subst" "0.000186787" "01943" "SEMA4A_000052" "g.156132837A>C" "" "" "" "SEMA4A(NM_001193300.1):c.1086A>C (p.S362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000713981" "1" "70" "1" "156131170" "156131172" "del" "0" "00000" "SEMA4A_000053" "g.156131170_156131172del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.156161379_156161381del" "" "likely pathogenic (dominant)" "" "0000716909" "0" "30" "1" "156145372" "156145372" "subst" "4.09262E-6" "01943" "SEMA4A_000055" "g.156145372C>A" "" "" "" "SEMA4A(NM_001193300.1):c.1618C>A (p.R540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730693" "1" "90" "1" "156130792" "156130792" "dup" "0" "00000" "SEMA4A_000054" "g.156130792dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.156161001dup" "" "pathogenic (dominant)" "" "0000732467" "0" "50" "1" "156128220" "156128220" "subst" "0.000418244" "00000" "SEMA4A_000056" "g.156128220T>C" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.156158429T>C" "" "VUS" "" "0000784415" "0" "50" "1" "156145416" "156145416" "subst" "0" "00000" "SEMA4A_000057" "g.156145416G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.156175625G>C" "" "VUS" "" "0000784496" "0" "50" "1" "156145400" "156145400" "subst" "6.57457E-5" "00000" "SEMA4A_000032" "g.156145400G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs199696322" "0" "" "" "g.156175609G>A" "" "VUS" "" "0000784505" "0" "50" "1" "156128541" "156128541" "subst" "5.68486E-5" "00000" "SEMA4A_000014" "g.156128541C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201943133" "0" "" "" "g.156158750C>T" "" "VUS" "" "0000788346" "0" "50" "1" "156145400" "156145400" "subst" "6.57457E-5" "00000" "SEMA4A_000032" "g.156145400G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1646A" "" "Germline" "" "rs199696322" "0" "" "" "g.156175609G>A" "" "VUS" "" "0000790612" "0" "50" "1" "156146688" "156146688" "subst" "2.84269E-5" "00000" "SEMA4A_000058" "g.156146688C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.156176897C>T" "" "VUS" "" "0000793783" "0" "70" "1" "156131170" "156131172" "del" "0" "00000" "SEMA4A_000053" "g.156131170_156131172del" "" "{PMID:Zhou-2011:21677794}" "" "c.844_846del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794137" "0" "70" "1" "22207207" "22207207" "subst" "0" "00000" "SEMA4A_000059" "g.22207207C>T" "" "{PMID:Wan 2018:30245926}" "" "c.1940G>A; p.Arg647Gln" "Known high myopia gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.21880714C>T" "" "likely pathogenic" "" "0000794142" "0" "70" "16" "77334288" "77334288" "subst" "4.06326E-6" "00000" "SEMA4A_000001" "g.77334288C>T" "" "{PMID:Wan 2018:30245926}" "" "c.2546G>A; p.Gly849Asp" "Known high myopia gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.77300391C>T" "" "likely pathogenic" "" "0000796770" "0" "70" "1" "156142783" "156142783" "subst" "0.000337448" "00000" "SEMA4A_000017" "g.156142783T>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1301T>C" "" "Germline" "" "rs146822426" "0" "" "" "" "" "likely pathogenic" "" "0000797017" "0" "50" "1" "156144730" "156144730" "subst" "0" "00000" "SEMA4A_000029" "g.156144730A>G" "" "{PMID:Wang-2014:24154662}" "" "c.1433A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000798840" "0" "50" "1" "156126202" "156126202" "subst" "0" "01943" "SEMA4A_000060" "g.156126202C>G" "" "" "" "SEMA4A(NM_001193300.1):c.140-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798841" "0" "50" "1" "156128520" "156128520" "subst" "5.27876E-5" "01943" "SEMA4A_000061" "g.156128520A>G" "" "" "" "SEMA4A(NM_001193300.1):c.473A>G (p.D158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798842" "0" "30" "1" "156142649" "156142649" "subst" "0" "01943" "SEMA4A_000062" "g.156142649G>C" "" "" "" "SEMA4A(NM_001193300.1):c.1167G>C (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798843" "0" "90" "1" "156145003" "156145003" "subst" "0" "01943" "SEMA4A_000063" "g.156145003C>T" "" "" "" "SEMA4A(NM_001193300.1):c.1561C>T (p.R521*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798844" "0" "50" "1" "156146378" "156146378" "subst" "0" "01943" "SEMA4A_000064" "g.156146378G>T" "" "" "" "SEMA4A(NM_001193300.1):c.1876G>T (p.A626S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798845" "0" "10" "1" "156146640" "156146640" "subst" "0.0375289" "02326" "SEMA4A_000002" "g.156146640G>A" "" "" "" "SEMA4A(NM_022367.4):c.2138G>A (p.R713Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000815556" "0" "50" "1" "156146475" "156146475" "subst" "1.21942E-5" "00000" "SEMA4A_000066" "g.156146475G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SEMA4A:NM_001193301 c.G1973A, p.R658Q" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.156176684G>A" "" "VUS" "ACMG" "0000815567" "0" "50" "1" "156131155" "156131155" "subst" "0" "00000" "SEMA4A_000065" "g.156131155A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SEMA4A:NM_001193301 c.A829G, p.K277E" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.156161364A>G" "" "VUS" "ACMG" "0000819748" "1" "70" "1" "156132736" "156132736" "subst" "0" "00000" "SEMA4A_000068" "g.156132736C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "SEMA4A, variant 1: c.985C>T/p.Q329*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.156162945C>T" "" "likely pathogenic" "" "0000820086" "1" "70" "1" "156146733" "156146733" "subst" "0" "00000" "SEMA4A_000069" "g.156146733C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "SEMA4A, variant 1: c.2231C>T/p.T744I" "possibly solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.156176942C>T" "" "likely pathogenic" "" "0000820087" "1" "70" "1" "156146733" "156146733" "subst" "0" "00000" "SEMA4A_000069" "g.156146733C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "SEMA4A, variant 1: c.2231C>T/p.T744I" "possibly solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.156176942C>T" "" "likely pathogenic" "" "0000820105" "1" "70" "1" "156146669" "156146669" "subst" "3.6547E-5" "00000" "SEMA4A_000020" "g.156146669C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "SEMA4A, variant 1: c.2167C>A/p.R723S" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.156176878C>A" "" "likely pathogenic" "" "0000820208" "1" "70" "1" "156130755" "156130755" "dup" "0" "00000" "SEMA4A_000067" "g.156130755dup" "" "{PMID:Weisschuh 2020:32531858}" "" "SEMA4A, variant 1: c.745dup/p.E249Gfs*7" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.156160964dup" "" "likely pathogenic" "" "0000840242" "0" "30" "1" "156146640" "156146640" "subst" "0.0375289" "00000" "SEMA4A_000002" "g.156146640G>A" "" "{PMID:Men-2017:29062221}" "" "NM_022367.3: c.2138G>A" "" "Germline" "" "rs41265017" "0" "" "" "" "" "likely benign" "" "0000857074" "0" "30" "1" "156145424" "156145424" "subst" "0.000142908" "01943" "SEMA4A_000070" "g.156145424G>A" "" "" "" "SEMA4A(NM_001193300.1):c.1670G>A (p.R557Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882851" "0" "30" "1" "156126368" "156126368" "subst" "0" "02330" "SEMA4A_000049" "g.156126368G>A" "" "" "" "SEMA4A(NM_001193300.1):c.300+3G>A, SEMA4A(NM_001370571.1):c.-225+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958449" "0" "50" "1" "156131258" "156131258" "subst" "0" "00006" "SEMA4A_000073" "g.156131258C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.156161467C>T" "" "VUS" "ACMG" "0000958879" "0" "50" "1" "156142782" "156142782" "subst" "0" "00006" "SEMA4A_000074" "g.156142782A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.156172991A>C" "" "VUS" "ACMG" "0000959154" "0" "50" "1" "156127865" "156127865" "subst" "2.8443E-5" "00006" "SEMA4A_000072" "g.156127865C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.156158074C>T" "" "VUS" "ACMG" "0000959267" "0" "50" "1" "156126214" "156126214" "subst" "8.1213E-6" "00006" "SEMA4A_000071" "g.156126214G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.156156423G>A" "" "VUS" "ACMG" "0000959318" "0" "50" "1" "156146540" "156146540" "subst" "0.000130318" "00006" "SEMA4A_000044" "g.156146540T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.156176749T>C" "" "VUS" "ACMG" "0000990432" "0" "50" "1" "156144916" "156144916" "subst" "0" "01804" "SEMA4A_000075" "g.156144916G>A" "" "" "" "SEMA4A(NM_022367.3):c.1474G>A (p.(Val492Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031367" "0" "30" "1" "156131131" "156131131" "subst" "0" "01804" "SEMA4A_000076" "g.156131131C>A" "" "" "" "SEMA4A(NM_022367.4):c.811-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SEMA4A ## Count = 187 "{{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}}" "0000060488" "00024021" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "15" "0000060489" "00024021" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "15" "0000060490" "00024021" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "15" "0000060491" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060492" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060493" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060494" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060495" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060496" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060497" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060498" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060499" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060500" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060501" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060502" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060503" "00024021" "70" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060504" "00024021" "70" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060505" "00024021" "70" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060506" "00024021" "70" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000060507" "00024021" "50" "463" "-17" "463" "-17" "c.463-17C>A" "r.(spl?)" "p.(?)" "5i" "0000060508" "00024021" "30" "39" "0" "39" "0" "c.39C>A" "r.(?)" "p.(=)" "2" "0000060509" "00024021" "30" "762" "0" "762" "0" "c.762T>C" "r.(?)" "p.(=)" "8" "0000060510" "00024021" "70" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "10" "0000060511" "00024021" "70" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "10" "0000060512" "00024021" "70" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "10" "0000060513" "00024021" "70" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "10" "0000060514" "00024021" "70" "1049" "0" "1049" "0" "c.1049T>G" "r.(?)" "p.(Phe350Cys)" "10" "0000060515" "00024021" "70" "1049" "0" "1049" "0" "c.1049T>G" "r.(?)" "p.(Phe350Cys)" "10" "0000060516" "00024021" "70" "1049" "0" "1049" "0" "c.1049T>G" "r.(?)" "p.(Phe350Cys)" "10" "0000060517" "00024021" "70" "1049" "0" "1049" "0" "c.1049T>G" "r.(?)" "p.(Phe350Cys)" "10" "0000060518" "00024021" "30" "1134" "27" "1134" "28" "c.1134+27_1134+28del" "r.(=)" "p.(=)" "10i" "0000060519" "00024021" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(=)" "15" "0000254720" "00025895" "30" "592" "0" "592" "0" "c.592A>G" "r.(?)" "p.(Met198Val)" "" "0000254720" "00024021" "30" "592" "0" "592" "0" "c.592A>G" "r.(?)" "p.(Met198Val)" "" "0000295714" "00025895" "10" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Ala337=)" "" "0000295714" "00024021" "10" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Ala337=)" "" "0000295715" "00025895" "10" "1434" "12" "1434" "12" "c.1434+12C>A" "r.(=)" "p.(=)" "" "0000295715" "00024021" "10" "1434" "12" "1434" "12" "c.1434+12C>A" "r.(=)" "p.(=)" "" "0000295716" "00025895" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000295716" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000295717" "00025895" "50" "2167" "0" "2167" "0" "c.2167C>A" "r.(?)" "p.(Arg723Ser)" "" "0000295717" "00024021" "50" "2167" "0" "2167" "0" "c.2167C>A" "r.(?)" "p.(Arg723Ser)" "" "0000295718" "00025895" "30" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Cys)" "" "0000295718" "00024021" "30" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Cys)" "" "0000295719" "00025895" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Phe145=)" "" "0000295719" "00024021" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Phe145=)" "" "0000295720" "00025895" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Leu)" "" "0000295720" "00024021" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Leu)" "" "0000298099" "00025895" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Pro572=)" "" "0000298099" "00024021" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Pro572=)" "" "0000299395" "00025895" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Ala83Pro)" "" "0000299395" "00024021" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Ala83Pro)" "" "0000307879" "00025895" "50" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Met434Thr)" "" "0000307879" "00024021" "50" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Met434Thr)" "" "0000307880" "00025895" "30" "1694" "-8" "1694" "-8" "c.1694-8T>C" "r.(=)" "p.(=)" "" "0000307880" "00024021" "30" "1694" "-8" "1694" "-8" "c.1694-8T>C" "r.(=)" "p.(=)" "" "0000307881" "00025895" "30" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Pro729=)" "" "0000307881" "00024021" "30" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Pro729=)" "" "0000307882" "00025895" "70" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Met100Ile)" "" "0000307882" "00024021" "70" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Met100Ile)" "" "0000307883" "00025895" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Ile164=)" "" "0000307883" "00024021" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Ile164=)" "" "0000340926" "00025895" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Pro572=)" "" "0000340926" "00024021" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Pro572=)" "" "0000346889" "00025895" "50" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "" "0000346889" "00024021" "50" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "" "0000348543" "00025895" "50" "1969" "0" "1969" "0" "c.1969C>G" "r.(?)" "p.(Pro657Ala)" "" "0000348543" "00024021" "50" "1969" "0" "1969" "0" "c.1969C>G" "r.(?)" "p.(Pro657Ala)" "" "0000475789" "00025895" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Pro92Ser)" "" "0000475789" "00024021" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Pro92Ser)" "" "0000475790" "00025895" "50" "686" "-5" "686" "-5" "c.686-5C>T" "r.spl?" "p.?" "" "0000475790" "00024021" "50" "686" "-5" "686" "-5" "c.686-5C>T" "r.spl?" "p.?" "" "0000475791" "00025895" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Pro238Ser)" "" "0000475791" "00024021" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Pro238Ser)" "" "0000475792" "00025895" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Glu459Gly)" "" "0000475792" "00024021" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Glu459Gly)" "" "0000475793" "00025895" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Gln478Arg)" "" "0000475793" "00024021" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Gln478Arg)" "" "0000475794" "00025895" "10" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000475794" "00024021" "10" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000475795" "00025895" "50" "1619" "0" "1619" "0" "c.1619G>C" "r.(?)" "p.(Arg540Pro)" "" "0000475795" "00024021" "50" "1619" "0" "1619" "0" "c.1619G>C" "r.(?)" "p.(Arg540Pro)" "" "0000475796" "00025895" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Ser549Asn)" "" "0000475796" "00024021" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Ser549Asn)" "" "0000475797" "00025895" "50" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ala712Val)" "" "0000475797" "00024021" "50" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ala712Val)" "" "0000475798" "00025895" "50" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Ala728Thr)" "" "0000475798" "00024021" "50" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Ala728Thr)" "" "0000477409" "00025895" "10" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000477409" "00024021" "10" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000503782" "00025895" "50" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Gly7Asp)" "" "0000503782" "00024021" "50" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Gly7Asp)" "" "0000503783" "00025895" "30" "301" "-11" "301" "-7" "c.301-11_301-7del" "r.(=)" "p.(=)" "" "0000503783" "00024021" "30" "301" "-11" "301" "-7" "c.301-11_301-7del" "r.(=)" "p.(=)" "" "0000503784" "00025895" "50" "369" "0" "369" "0" "c.369G>C" "r.(?)" "p.(Gln123His)" "" "0000503784" "00024021" "50" "369" "0" "369" "0" "c.369G>C" "r.(?)" "p.(Gln123His)" "" "0000503785" "00025895" "10" "615" "0" "615" "0" "c.615G>A" "r.(?)" "p.(Glu205=)" "" "0000503785" "00024021" "10" "615" "0" "615" "0" "c.615G>A" "r.(?)" "p.(Glu205=)" "" "0000503786" "00025895" "30" "686" "-5" "686" "-5" "c.686-5C>T" "r.spl?" "p.?" "" "0000503786" "00024021" "30" "686" "-5" "686" "-5" "c.686-5C>T" "r.spl?" "p.?" "" "0000503787" "00025895" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Val338Ile)" "" "0000503787" "00024021" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Val338Ile)" "" "0000503788" "00025895" "50" "1306" "0" "1306" "0" "c.1306C>A" "r.(?)" "p.(Leu436Met)" "" "0000503788" "00024021" "50" "1306" "0" "1306" "0" "c.1306C>A" "r.(?)" "p.(Leu436Met)" "" "0000503789" "00025895" "30" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.(Thr438=)" "" "0000503789" "00024021" "30" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.(Thr438=)" "" "0000503790" "00025895" "30" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Leu474=)" "" "0000503790" "00024021" "30" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Leu474=)" "" "0000503791" "00025895" "30" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000503791" "00024021" "30" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000503792" "00025895" "50" "2038" "0" "2038" "0" "c.2038T>C" "r.(?)" "p.(Tyr680His)" "" "0000503792" "00024021" "50" "2038" "0" "2038" "0" "c.2038T>C" "r.(?)" "p.(Tyr680His)" "" "0000604915" "00025895" "30" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Ala337=)" "" "0000604915" "00024021" "30" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Ala337=)" "" "0000632004" "00024021" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Met)" "" "0000632005" "00024021" "50" "1451" "0" "1451" "0" "c.1451G>C" "r.(?)" "p.(Gly484Ala)" "" "0000647398" "00025895" "10" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "" "0000647398" "00024021" "10" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "" "0000647399" "00025895" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000647399" "00024021" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000653782" "00025895" "30" "1215" "0" "1215" "0" "c.1215G>T" "r.(?)" "p.(Thr405=)" "" "0000653782" "00024021" "30" "1215" "0" "1215" "0" "c.1215G>T" "r.(?)" "p.(Thr405=)" "" "0000653783" "00025895" "30" "1435" "-18" "1435" "-18" "c.1435-18T>G" "r.(=)" "p.(=)" "" "0000653783" "00024021" "30" "1435" "-18" "1435" "-18" "c.1435-18T>G" "r.(=)" "p.(=)" "" "0000668964" "00025895" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000668964" "00024021" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000675504" "00025895" "30" "300" "3" "300" "3" "c.300+3G>A" "r.spl?" "p.?" "" "0000675504" "00024021" "30" "300" "3" "300" "3" "c.300+3G>A" "r.spl?" "p.?" "" "0000684388" "00024021" "70" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Ile101Thr)" "4" "0000684389" "00024021" "70" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81*)" "3" "0000687903" "00025895" "30" "1086" "0" "1086" "0" "c.1086A>C" "r.(?)" "p.(Ser362=)" "" "0000687903" "00024021" "30" "1086" "0" "1086" "0" "c.1086A>C" "r.(?)" "p.(Ser362=)" "" "0000713981" "00024021" "70" "844" "0" "846" "0" "c.844_846del" "r.(?)" "p.(Lys282del)" "" "0000716909" "00025895" "30" "1618" "0" "1618" "0" "c.1618C>A" "r.(?)" "p.(Arg540=)" "" "0000716909" "00024021" "30" "1618" "0" "1618" "0" "c.1618C>A" "r.(?)" "p.(Arg540=)" "" "0000730693" "00024021" "90" "782" "0" "782" "0" "c.782dup" "r.(?)" "p.(His261Glnfs*7)" "8" "0000732467" "00024021" "50" "405" "0" "405" "0" "c.405T>C" "r.(?)" "p.(Asn135=)" "" "0000784415" "00024021" "50" "1662" "0" "1662" "0" "c.1662G>C" "r.(?)" "p.(Arg554Ser)" "" "0000784496" "00024021" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Ser549Asn)" "" "0000784505" "00024021" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Leu)" "" "0000788346" "00024021" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Ser549Asn)" "14" "0000790612" "00024021" "50" "2186" "0" "2186" "0" "c.2186C>T" "r.(?)" "p.(Pro729Leu)" "" "0000793783" "00024021" "70" "844" "0" "846" "0" "c.844_846del" "r.(?)" "p.(Lys282del)" "9" "0000794137" "00024021" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Trp)" "" "0000794142" "00024021" "70" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Glu82Gly)" "" "0000796770" "00024021" "70" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Met434Thr)" "11" "0000797017" "00024021" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Gln478Arg)" "12" "0000798840" "00025895" "50" "140" "-3" "140" "-3" "c.140-3C>G" "r.spl?" "p.?" "" "0000798840" "00024021" "50" "140" "-3" "140" "-3" "c.140-3C>G" "r.spl?" "p.?" "" "0000798841" "00025895" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000798841" "00024021" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000798842" "00025895" "30" "1167" "0" "1167" "0" "c.1167G>C" "r.(?)" "p.(Leu389=)" "" "0000798842" "00024021" "30" "1167" "0" "1167" "0" "c.1167G>C" "r.(?)" "p.(Leu389=)" "" "0000798843" "00025895" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521*)" "" "0000798843" "00024021" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521*)" "" "0000798844" "00025895" "50" "1876" "0" "1876" "0" "c.1876G>T" "r.(?)" "p.(Ala626Ser)" "" "0000798844" "00024021" "50" "1876" "0" "1876" "0" "c.1876G>T" "r.(?)" "p.(Ala626Ser)" "" "0000798845" "00025895" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000798845" "00024021" "10" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000815556" "00025895" "50" "1973" "0" "1973" "0" "c.1973G>A" "r.(?)" "p.(Arg658Gln)" "" "0000815556" "00024021" "50" "1973" "0" "1973" "0" "c.1973G>A" "r.(?)" "p.(Arg658Gln)" "" "0000815567" "00025895" "50" "829" "0" "829" "0" "c.829A>G" "r.(?)" "p.(Lys277Glu)" "" "0000815567" "00024021" "50" "829" "0" "829" "0" "c.829A>G" "r.(?)" "p.(Lys277Glu)" "" "0000819748" "00025895" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Gln329*)" "" "0000819748" "00024021" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Gln329*)" "" "0000820086" "00025895" "70" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Ile)" "" "0000820086" "00024021" "70" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Ile)" "" "0000820087" "00025895" "70" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Ile)" "" "0000820087" "00024021" "70" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Ile)" "" "0000820105" "00025895" "70" "2167" "0" "2167" "0" "c.2167C>A" "r.(?)" "p.(Arg723Ser)" "" "0000820105" "00024021" "70" "2167" "0" "2167" "0" "c.2167C>A" "r.(?)" "p.(Arg723Ser)" "" "0000820208" "00025895" "70" "745" "0" "745" "0" "c.745dup" "r.(?)" "p.(Glu249Glyfs*7)" "" "0000820208" "00024021" "70" "745" "0" "745" "0" "c.745dup" "r.(?)" "p.(Glu249Glyfs*7)" "" "0000840242" "00024021" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "15" "0000857074" "00025895" "30" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Arg557Gln)" "" "0000857074" "00024021" "30" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Arg557Gln)" "" "0000882851" "00025895" "30" "300" "3" "300" "3" "c.300+3G>A" "r.spl?" "p.?" "" "0000882851" "00024021" "30" "300" "3" "300" "3" "c.300+3G>A" "r.spl?" "p.?" "" "0000958449" "00025895" "50" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Pro311Leu)" "" "0000958879" "00025895" "50" "1300" "0" "1300" "0" "c.1300A>C" "r.(?)" "p.(Met434Leu)" "" "0000959154" "00025895" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Pro102Leu)" "" "0000959267" "00025895" "50" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50His)" "" "0000959318" "00025895" "50" "2038" "0" "2038" "0" "c.2038T>C" "r.(?)" "p.(Tyr680His)" "" "0000990432" "00025895" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Val492Met)" "" "0000990432" "00024021" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Val492Met)" "" "0001031367" "00025895" "30" "811" "-6" "811" "-6" "c.811-6C>A" "r.(=)" "p.(=)" "" "0001031367" "00024021" "30" "811" "-6" "811" "-6" "c.811-6C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 76 "{{screeningid}}" "{{variantid}}" "0000033159" "0000060491" "0000033161" "0000060488" "0000033165" "0000060492" "0000033174" "0000060493" "0000033178" "0000060494" "0000033185" "0000060489" "0000033193" "0000060495" "0000033203" "0000060496" "0000033206" "0000060497" "0000033206" "0000060507" "0000033211" "0000060498" "0000033212" "0000060490" "0000033216" "0000060499" "0000033217" "0000060500" "0000033221" "0000060501" "0000033232" "0000060502" "0000033435" "0000060508" "0000033436" "0000060509" "0000033437" "0000060510" "0000033437" "0000060514" "0000033438" "0000060511" "0000033438" "0000060515" "0000033439" "0000060512" "0000033439" "0000060516" "0000033440" "0000060513" "0000033440" "0000060517" "0000033441" "0000060518" "0000033442" "0000060519" "0000033443" "0000060503" "0000033444" "0000060504" "0000033445" "0000060505" "0000033446" "0000060506" "0000233081" "0000475789" "0000233082" "0000475790" "0000233083" "0000475791" "0000233084" "0000475792" "0000233085" "0000475793" "0000233086" "0000475794" "0000233087" "0000475795" "0000233088" "0000475796" "0000233089" "0000475797" "0000233090" "0000475798" "0000234701" "0000477409" "0000277237" "0000632004" "0000277239" "0000632005" "0000290709" "0000647398" "0000290710" "0000647399" "0000305276" "0000668964" "0000309523" "0000684388" "0000309524" "0000684389" "0000329633" "0000713981" "0000333269" "0000730693" "0000334580" "0000732467" "0000373877" "0000784496" "0000373926" "0000784505" "0000373934" "0000784415" "0000376618" "0000788346" "0000377991" "0000790612" "0000380631" "0000793783" "0000380902" "0000794142" "0000380908" "0000794137" "0000382858" "0000796770" "0000383033" "0000797017" "0000387411" "0000815556" "0000387525" "0000815567" "0000390403" "0000819748" "0000390741" "0000820086" "0000390742" "0000820087" "0000390760" "0000820105" "0000390863" "0000820208" "0000404501" "0000840242" "0000448574" "0000958449" "0000448953" "0000959154" "0000449071" "0000959267" "0000449112" "0000958879" "0000449112" "0000959318"