### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYOC) # 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}}" "MYOC" "myocilin, trabecular meshwork inducible glucocorticoid response" "1" "q23-q24" "unknown" "NG_008859.1" "UD_132084439383" "" "https://www.LOVD.nl/MYOC" "" "1" "7610" "4653" "601652" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MYOC_codingDNA.html" "1" "" "
This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2011-07-08 00:00:00" "00006" "2020-11-25 19:15:17" "00000" "2022-05-09 15:51:19" ## 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}}" "00014194" "MYOC" "myocilin, trabecular meshwork inducible glucocorticoid response" "001" "NM_000261.1" "" "NP_000252.1" "" "" "" "-22" "2023" "1515" "171621773" "171604557" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00477" "OCA2" "albinism, oculocutaneous, type II (OCA-2, brown)" "AR" "203200" "" "" "" "00006" "2014-07-24 21:48:34" "00006" "2021-12-10 21:51:32" "01345" "GLC1A" "glaucoma, open angle, type 1A (GLC-1A)" "AD" "137750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYOC" "01345" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00059950" "" "" "" "1" "" "00001" "" "" "" "" "" "" "0" "" "" "" "" "00059951" "" "" "" "1" "" "00001" "{PMID:Sheffield 1993:8513321}" "large family, 22 affecteds" "" "" "United States" "" "0" "" "" "" "" "00059952" "" "" "" "1" "" "00001" "" "2 families, 27 affecteds" "" "" "" "" "0" "" "" "" "" "00059953" "" "" "" "1" "" "00001" "" "large family, ? affecteds" "" "" "United States" "" "0" "" "" "" "" "00059954" "" "" "" "1" "" "00001" "" "large family, 15 affecteds" "" "" "United States" "" "0" "" "" "" "" "00059955" "" "" "" "1" "" "00001" "" "" "" "" "Australia" "" "0" "" "" "" "" "00059956" "" "" "" "1" "" "00001" "" "large family, ? affecteds" "" "" "United States" "" "0" "" "" "" "" "00059957" "" "" "" "1" "" "00001" "" "large family, ? affecteds" "" "" "United States" "" "0" "" "" "" "" "00059958" "" "" "" "1" "" "00001" "" "227 patients with familial glaucoma" "" "yes" "United States" "" "0" "" "" "" "" "00059959" "" "" "" "1" "" "00001" "" "103 patients with unselected glaucoma" "" "" "United States" "" "0" "" "" "" "" "00059960" "" "" "" "1" "" "00001" "" "380 individials general population" "" "" "United States" "" "0" "" "" "" "" "00059961" "" "" "" "1" "" "00001" "" "" "" "" "United States" "" "0" "" "" "" "" "00059962" "" "" "" "1" "" "00001" "" "large family, 20 affecteds, 10 healthy carriers" "" "" "France" "" "0" "" "" "" "" "00059963" "" "" "" "1" "" "00001" "" "" "" "" "France" "" "0" "" "" "" "" "00059964" "" "" "" "1" "" "00001" "" "large family, 4 affecteds" "" "" "France" "" "0" "" "" "" "" "00059965" "" "" "" "1" "" "00001" "" "large family, 10 affecteds" "" "" "France" "" "0" "" "" "" "" "00059966" "" "" "" "1" "" "00001" "" "affected father and daugther" "" "" "Japan" "" "0" "" "" "" "" "00060060" "" "" "" "1" "" "00001" "" "" "" "" "" "" "0" "" "" "" "" "00208810" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00289590" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289591" "" "" "" "87" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304161" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363792" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G485" "00363793" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G542" "00363794" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G473" "00363795" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G360" "00363796" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G127" "00363797" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G336" "00363798" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G366" "00363799" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G571" "00363800" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G346" "00363801" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G719" "00363802" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G60" "00380445" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP33" "00380454" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP49" "00382122" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "74" "00384399" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14222" "00390785" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00408212" "" "" "" "1" "" "00000" "{PMID:Fernandez-Martinez 2011:21224891}" "" "?" "" "" "" "0" "" "" "" "99168" "00408220" "" "" "" "1" "" "00000" "{PMID:Fernandez-Martinez 2011:21224891}" "" "?" "" "" "" "0" "" "" "" "10033" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00059950" "00198" "00059951" "01345" "00059952" "01345" "00059953" "01345" "00059954" "01345" "00059955" "01345" "00059956" "01345" "00059957" "01345" "00059958" "04267" "00059959" "01345" "00059960" "00198" "00059961" "00198" "00059962" "01345" "00059963" "01345" "00059964" "01345" "00059965" "01345" "00059966" "01345" "00060060" "00198" "00289590" "00198" "00289591" "00198" "00304161" "00198" "00363792" "04267" "00363793" "04267" "00363794" "04267" "00363795" "04267" "00363796" "04267" "00363797" "04267" "00363798" "04267" "00363799" "04267" "00363800" "04267" "00363801" "04267" "00363802" "04267" "00380445" "00198" "00380454" "00198" "00382122" "00477" "00384399" "00198" "00390785" "04214" "00408212" "04214" "00408220" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00477, 01345, 04214, 04267 ## Count = 37 "{{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}}" "0000046440" "00198" "00059950" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046441" "01345" "00059951" "00001" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046442" "01345" "00059952" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046443" "01345" "00059953" "00001" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046444" "01345" "00059954" "00001" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046445" "01345" "00059955" "00001" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046446" "01345" "00059956" "00001" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046447" "01345" "00059957" "00001" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046448" "04267" "00059958" "00001" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046449" "01345" "00059959" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046450" "00198" "00059960" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046451" "00198" "00059961" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046452" "01345" "00059962" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046453" "01345" "00059963" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046454" "01345" "00059964" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046455" "01345" "00059965" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046456" "01345" "00059966" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046550" "00198" "00060060" "00001" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157421" "00198" "00208810" "01164" "Unknown" "" "HP:0002373 (Febrile seizures); HP:0012638 (Abnormality of nervous system physiology)" "" "" "" "" "" "" "" "" "" "" "" "0000259139" "04267" "00363792" "00000" "Familial, autosomal dominant" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259140" "04267" "00363793" "00000" "Di-genic" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259141" "04267" "00363794" "00000" "Familial, autosomal dominant" "21y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259142" "04267" "00363795" "00000" "Familial, autosomal dominant" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259143" "04267" "00363796" "00000" "Isolated (sporadic)" "14y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259144" "04267" "00363797" "00000" "Isolated (sporadic)" "23y" "see paper; ..." "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259145" "04267" "00363798" "00000" "Familial, autosomal dominant" "41y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259146" "04267" "00363799" "00000" "Isolated (sporadic)" "68y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259147" "04267" "00363800" "00000" "Isolated (sporadic)" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259148" "04267" "00363801" "00000" "Isolated (sporadic)" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259149" "04267" "00363802" "00000" "Isolated (sporadic)" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000274297" "00198" "00380445" "00000" "Familial, autosomal dominant" "7y" "Cataract 6;Primary Open Angle Glaucoma 1A" "" "" "" "" "" "" "" "" "" "" "" "0000274306" "00198" "00380454" "00000" "Familial, autosomal dominant" "22y" "" "" "" "" "" "" "" "" "" "Primary Open Angle Glaucoma 1A" "" "" "0000275964" "00477" "00382122" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 137750 or 609887" "" "" "" "" "" "" "" "" "" "MIM, 137750 or 609887" "" "0000278184" "00198" "00384399" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Morning glory syndrome" "" "0000284273" "04214" "00390785" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000300342" "04214" "00408212" "00000" "Unknown" "49y" "maximal intraocular pressure (mm Hg) right/left eye: 38/38; grade of optic disk atrophy according to Jonas ano data Papastathopoulos (normal 0, moderate cupping I, notching of the neuroretinal rim II/III, temporal neuroretinal rim loss IV, complete atrophy V): I/I; optic disk area (mm2) right/left eye:" "" "" "" "" "" "" "" "" "primary open-angle glaucoma" "" "" "0000300350" "04214" "00408220" "00000" "Unknown" "49y" "maximal intraocular pressure (mm Hg) right/left eye: no data; grade of optic disk atrophy according to Jonas ano data Papastathopoulos (normal 0, moderate cupping I, notching of the neuroretinal rim II/III, temporal neuroretinal rim loss IV, complete atrophy V): no data; optic disk area (mm2) right/left eye:" "" "" "" "" "" "" "" "" "primary open-angle glaucoma" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059937" "00059950" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059938" "00059951" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059939" "00059952" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059940" "00059953" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059941" "00059954" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059942" "00059955" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059943" "00059956" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059944" "00059957" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059945" "00059958" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059946" "00059959" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059947" "00059960" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059948" "00059961" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000059949" "00059962" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059950" "00059963" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059951" "00059964" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059952" "00059965" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000059953" "00059966" "1" "00001" "00001" "2011-08-15 23:39:18" "" "" "SEQ" "DNA" "" "" "0000060047" "00060060" "1" "00001" "00001" "2011-08-16 12:22:49" "" "" "SEQ" "DNA" "" "" "0000209859" "00208810" "1" "01164" "01164" "2018-12-17 10:13:46" "" "" "SEQ-NG" "DNA" "" "" "0000290758" "00289590" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290759" "00289591" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305290" "00304161" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000365020" "00363792" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365021" "00363793" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365022" "00363794" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ" "DNA" "" "" "0000365023" "00363795" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365024" "00363796" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ" "DNA" "" "" "0000365025" "00363797" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ" "DNA" "" "" "0000365026" "00363798" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365027" "00363799" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365028" "00363800" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ" "DNA" "" "" "0000365029" "00363801" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ" "DNA" "" "" "0000365030" "00363802" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000381658" "00380445" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000381667" "00380454" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000383338" "00382122" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000385624" "00384399" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000392026" "00390785" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000409467" "00408212" "1" "00000" "03840" "2022-04-17 20:11:19" "" "" "SEQ" "DNA" "" "" "0000409475" "00408220" "1" "00000" "03840" "2022-04-17 20:11:19" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000059937" "MYOC" "0000059938" "MYOC" "0000059939" "MYOC" "0000059940" "MYOC" "0000059941" "MYOC" "0000059942" "MYOC" "0000059943" "MYOC" "0000059944" "MYOC" "0000059945" "MYOC" "0000059946" "MYOC" "0000059947" "MYOC" "0000059948" "MYOC" "0000059949" "MYOC" "0000059950" "MYOC" "0000059951" "MYOC" "0000059952" "MYOC" "0000059953" "MYOC" "0000060047" "MYOC" "0000365020" "MYOC" "0000365021" "MYOC" "0000365021" "OPTN" "0000365022" "MYOC" "0000365023" "MYOC" "0000365024" "MYOC" "0000365025" "MYOC" "0000365026" "MYOC" "0000365027" "MYOC" "0000365028" "MYOC" "0000365029" "MYOC" "0000365030" "MYOC" "0000381658" "EPHA2" "0000381667" "MYOC" "0000383338" "MYOC" "0000385624" "MYOC" "0000392026" "OPTN" "0000409467" "RPGRIP1" "0000409475" "RPGRIP1" ## 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 = 64 "{{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}}" "0000090721" "0" "50" "1" "171605271" "171605271" "subst" "0" "00001" "MYOC_000001" "g.171605271A>G" "" "" "" "" "" "Germline" "" "rs74315328" "0" "" "" "g.171636131A>G" "" "VUS" "" "0000090722" "0" "50" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "" "" "" "" "" "Germline" "" "rs74315329" "0" "" "" "g.171636338G>A" "" "VUS" "" "0000090723" "0" "50" "1" "171605471" "171605471" "subst" "0" "00001" "MYOC_000007" "g.171605471G>A" "" "" "" "" "" "Germline" "" "rs74315330" "0" "" "" "g.171636331G>A" "" "VUS" "" "0000090724" "0" "50" "1" "171605150" "171605150" "subst" "0" "00001" "MYOC_000005" "g.171605150A>C" "" "" "" "" "" "Germline" "" "rs74315331" "0" "" "" "g.171636010A>C" "" "VUS" "" "0000090725" "0" "50" "1" "171605140" "171605140" "subst" "0" "00001" "MYOC_000006" "g.171605140G>T" "" "" "" "" "" "Germline" "" "rs74315332" "0" "" "" "g.171636000G>T" "" "VUS" "" "0000090726" "0" "50" "1" "171605489" "171605489" "subst" "0" "00001" "MYOC_000002" "g.171605489C>A" "" "" "" "" "" "Germline" "" "rs121909193" "0" "" "" "g.171636349C>A" "" "VUS" "" "0000090727" "1" "90" "1" "171605271" "171605271" "subst" "0" "00001" "MYOC_000001" "g.171605271A>G" "" "{PMID:Stone 1997:09005853}, {OMIM601652:0001}" "" "Tyr430His" "not in 942 control chromosomes" "Germline" "" "" "0" "" "" "g.171636131A>G" "" "pathogenic" "" "0000090728" "1" "90" "1" "171605271" "171605271" "subst" "0" "00001" "MYOC_000001" "g.171605271A>G" "" "{PMID:Alward 1998:09535666}, {OMIM601652:0001}" "" "Tyr430His" "" "Germline" "" "" "0" "" "" "g.171636131A>G" "" "pathogenic" "" "0000090729" "1" "90" "1" "171605489" "171605489" "subst" "0" "00001" "MYOC_000002" "g.171605489C>A" "" "{PMID:Stone 1997:09005853}, {OMIM601652:0002}" "" "Gly357Val" "not in 942 control chromosomes" "Germline" "" "" "0" "" "" "g.171636349C>A" "" "pathogenic" "" "0000090730" "1" "90" "1" "171605489" "171605489" "subst" "0" "00001" "MYOC_000002" "g.171605489C>A" "" "{PMID:Stone 1997:09005853}, {OMIM601652:0002}" "" "Gly357Val" "not in 942 control chromosomes" "Germline" "" "" "0" "" "" "g.171636349C>A" "" "pathogenic" "" "0000090731" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "" "{PMID:Craig 2001:11535458}, {OMIM601652:0003}" "" "Gln361Stop" "" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090732" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "" "{PMID:Stone 1997:09005853}, {OMIM601652:0003}" "" "Gln361Stop" "" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090733" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "" "{PMID:Stone 1997:09005853}, {OMIM601652:0003}" "" "Gln361Stop" "" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090734" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "4/454" "{PMID:Stone 1997:09005853}, {OMIM601652:0003}" "" "Gln361Stop" "" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090735" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "3/206" "{PMID:Stone 1997:09005853}, {OMIM601652:0003}" "" "Gln361Stop" "" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090736" "1" "90" "1" "171605478" "171605478" "subst" "0.00112516" "00001" "MYOC_000003" "g.171605478G>A" "1/760" "{PMID:Stone 1997:09005853}, {OMIM601652:0003}" "" "Gln361Stop" "control chromosoems" "Germline" "" "" "0" "" "" "g.171636338G>A" "" "pathogenic" "" "0000090737" "0" "10" "1" "171605269" "171605269" "subst" "0" "00001" "MYOC_000004" "g.171605269G>A" "0.025-0.065" "{PMID:Stone 1997:09005853}" "" "Tyr430Tyr" "" "Germline" "" "" "0" "" "" "g.171636129G>A" "" "benign" "" "0000090738" "1" "90" "1" "171605150" "171605150" "subst" "0" "00001" "MYOC_000005" "g.171605150A>C" "" "{PMID:Adam 1997:09328473}, {OMIM601652:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.171636010A>C" "" "pathogenic" "" "0000090739" "1" "90" "1" "171605140" "171605140" "subst" "0" "00001" "MYOC_000006" "g.171605140G>T" "" "{PMID:Adam 1997:09328473}, {OMIM601652:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.171636000G>T" "" "pathogenic" "" "0000090740" "1" "90" "1" "171605471" "171605471" "subst" "0" "00001" "MYOC_000007" "g.171605471G>A" "" "{PMID:Adam 1997:09328473}, {OMIM601652:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.171636331G>A" "" "pathogenic" "" "0000090741" "1" "90" "1" "171605471" "171605471" "subst" "0" "00001" "MYOC_000007" "g.171605471G>A" "" "{PMID:Adam 1997:09328473}, {OMIM601652:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.171636331G>A" "" "pathogenic" "" "0000090742" "1" "90" "1" "171605471" "171605471" "subst" "0" "00001" "MYOC_000007" "g.171605471G>A" "" "{PMID:Suzuki 1997:09345106}, {OMIM601652:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.171636331G>A" "" "pathogenic" "" "0000090836" "0" "10" "1" "171621726" "171621726" "subst" "0" "00001" "MYOC_000095" "g.171621726C>G" "" "copied from {MYO:4}" "" "" "" "Germline" "" "" "0" "" "" "g.171652586C>G" "" "benign" "" "0000255351" "0" "70" "1" "171605292" "171605292" "subst" "0" "01943" "MYOC_000079" "g.171605292A>G" "" "" "" "MYOC(NM_000261.1):c.1288T>C (p.F430L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171636152A>G" "" "likely pathogenic" "" "0000302778" "0" "30" "1" "171605387" "171605387" "subst" "0.00341973" "01943" "MYOC_000045" "g.171605387T>C" "" "" "" "MYOC(NM_000261.1):c.1193A>G (p.K398R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171636247T>C" "" "likely benign" "" "0000321127" "0" "50" "1" "171605526" "171605526" "subst" "0.000889672" "01804" "MYOC_000026" "g.171605526C>T" "" "" "" "MYOC(NM_000261.1):c.1054G>A (p.(Glu352Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171636386C>T" "" "VUS" "" "0000440087" "0" "70" "1" "171621280" "171621280" "subst" "0.0000609191" "01164" "MYOC_000097" "g.171621280G>A" "" "" "" "" "ACMG grading: PM2,PVS1; lt. GeneReviews evtl. digenisch mit CYP1B1 oder rezessiv, noch unklar" "Germline" "" "rs748152582" "0" "" "" "g.171652140G>A" "" "likely pathogenic" "ACMG" "0000504228" "0" "50" "1" "171605095" "171605102" "del" "0" "01804" "MYOC_000098" "g.171605095_171605102del" "" "" "" "MYOC(NM_000261.1):c.1480_1487del (p.(Met494LeufsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171635955_171635962del" "" "VUS" "" "0000504229" "0" "30" "1" "171605290" "171605290" "subst" "0.000081213" "01943" "MYOC_000099" "g.171605290G>A" "" "" "" "MYOC(NM_000261.1):c.1290C>T (p.F430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171636150G>A" "" "likely benign" "" "0000504230" "0" "90" "1" "171605478" "171605478" "subst" "0.00112516" "01943" "MYOC_000003" "g.171605478G>A" "" "" "" "MYOC(NM_000261.1):c.1102C>T (p.Q368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171636338G>A" "" "pathogenic" "" "0000504231" "0" "30" "1" "171621386" "171621386" "subst" "0.00257998" "01943" "MYOC_000100" "g.171621386G>A" "" "" "" "MYOC(NM_000261.1):c.366C>T (p.G122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171652246G>A" "" "likely benign" "" "0000504232" "0" "30" "1" "171621500" "171621500" "subst" "0.0000040789" "01943" "MYOC_000101" "g.171621500G>A" "" "" "" "MYOC(NM_000261.1):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171652360G>A" "" "likely benign" "" "0000604984" "0" "50" "1" "171621608" "171621608" "subst" "0.00100279" "01804" "MYOC_000062" "g.171621608C>A" "" "" "" "MYOC(NM_000261.1):c.144G>T (p.(Gln48His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171652468C>A" "" "VUS" "" "0000620433" "0" "90" "1" "171605539" "171605539" "subst" "0.0000040625" "01943" "MYOC_000102" "g.171605539A>C" "" "" "" "MYOC(NM_000261.1):c.1041T>G (p.Y347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171636399A>C" "" "pathogenic" "" "0000647447" "1" "90" "1" "171605384" "171605384" "subst" "0.0000121848" "03575" "MYOC_000050" "g.171605384C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28936694}" "Germline" "" "rs28936694" "0" "" "" "g.171636244C>A" "" "pathogenic" "" "0000647448" "1" "30" "1" "171605539" "171605539" "subst" "0.0225225" "03575" "MYOC_000103" "g.171605539A>G" "87/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "87 heterozygous; {DB:CLININrs61730974}" "Germline" "" "rs61730974" "0" "" "" "g.171636399A>G" "" "likely benign" "" "0000653808" "0" "10" "1" "171605725" "171605725" "subst" "0.00391731" "01943" "MYOC_000104" "g.171605725C>A" "" "" "" "MYOC(NM_000261.1):c.855G>T (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171636585C>A" "" "benign" "" "0000653809" "0" "30" "1" "171605813" "171605813" "subst" "0.0000795299" "01943" "MYOC_000093" "g.171605813G>A" "" "" "" "MYOC(NM_000261.1):c.767C>T (p.T256M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171636673G>A" "" "likely benign" "" "0000668978" "3" "30" "1" "171605539" "171605539" "subst" "0.0225225" "03575" "MYOC_000103" "g.171605539A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61730974}" "Germline" "" "rs61730974" "0" "" "" "g.171636399A>G" "" "likely benign" "" "0000716981" "0" "50" "1" "171605270" "171605270" "subst" "0" "01943" "MYOC_000105" "g.171605270T>C" "" "" "" "MYOC(NM_000261.1):c.1310A>G (p.Y437C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716982" "0" "90" "1" "171605450" "171605450" "subst" "0.0000203107" "01943" "MYOC_000025" "g.171605450G>A" "" "" "" "MYOC(NM_000261.1):c.1130C>T (p.T377M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716983" "0" "30" "1" "171605702" "171605702" "subst" "0.000583253" "01943" "MYOC_000022" "g.171605702G>T" "" "" "" "MYOC(NM_000261.1):c.878C>A (p.T293K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716984" "0" "90" "1" "171621580" "171621580" "subst" "0" "02329" "MYOC_000096" "g.171621580C>A" "" "" "" "MYOC(NM_000261.1):c.172G>T (p.E58*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000765970" "1" "90" "1" "171621594" "171621594" "subst" "0.0000610054" "00000" "MYOC_000078" "g.171621594A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.171652454A>G" "" "pathogenic" "" "0000765971" "1" "90" "1" "171621508" "171621508" "subst" "0.0000733634" "00000" "MYOC_000015" "g.171621508G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.171652368G>A" "" "pathogenic" "" "0000765972" "1" "90" "1" "171621481" "171621481" "subst" "0.0000327571" "00000" "MYOC_000037" "g.171621481G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.171652341G>A" "" "pathogenic" "" "0000765973" "1" "90" "1" "171605471" "171605471" "subst" "0" "00000" "MYOC_000007" "g.171605471G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.171636331G>A" "" "pathogenic" "" "0000765974" "1" "90" "1" "171605559" "171605559" "subst" "0" "00000" "MYOC_000013" "g.171605559A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171636419A>G" "" "pathogenic" "" "0000765975" "1" "90" "1" "171605447" "171605447" "subst" "0" "00000" "MYOC_000108" "g.171605447T>C" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171636307T>C" "" "pathogenic" "" "0000765976" "1" "90" "1" "171605559" "171605559" "subst" "0" "00000" "MYOC_000013" "g.171605559A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.171636419A>G" "" "pathogenic" "" "0000765977" "1" "90" "1" "171605702" "171605702" "subst" "0.000583253" "00000" "MYOC_000022" "g.171605702G>T" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171636562G>T" "" "pathogenic" "" "0000765978" "1" "90" "1" "171605420" "171605420" "subst" "0.000012186" "00000" "MYOC_000107" "g.171605420C>T" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171636280C>T" "" "pathogenic" "" "0000765979" "1" "90" "1" "171605420" "171605420" "subst" "0.000012186" "00000" "MYOC_000107" "g.171605420C>T" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171636280C>T" "" "pathogenic" "" "0000765980" "1" "90" "1" "171605124" "171605124" "subst" "0" "00000" "MYOC_000106" "g.171605124G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.171635984G>A" "" "pathogenic" "" "0000795162" "0" "70" "1" "171621616" "171621616" "subst" "0.000665605" "00000" "MYOC_000034" "g.171621616G>A" "149" "{PMID:Sun 2018:30076350}" "" "MYOC(NM_000261.1):c.136C>T(p.R46*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.171652476G>A" "" "likely pathogenic" "" "0000795302" "0" "70" "1" "16464805" "16464805" "subst" "0.00135314" "00000" "MYOC_000109" "g.16464805C>T" "133" "{PMID:Sun 2018:30076350}" "" "EPHA2 (NM_004431.3):c.944G>A(p.R315Q); MYOC (NM_000261.1):c.1432G>T(p.D478Y)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16138310C>T" "" "likely pathogenic" "" "0000797399" "11" "70" "1" "171605478" "171605478" "subst" "0.00112516" "00000" "MYOC_000003" "g.171605478G>A" "" "{PMID:Patel 2019:30653986}" "" "c.1102C-->T, c.1064A-->G; p.Gln368*, p.Asn355Ser" "confirmed with Sanger sequencing; heterozygous, heterozygous" "Germline" "yes" "" "0" "" "" "g.171636338G>A" "" "likely pathogenic" "" "0000812718" "0" "70" "1" "171605522" "171605522" "subst" "0.000674353" "00000" "MYOC_000035" "g.171605522G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1058G>A, p.(Thr353Ile)" "error in annotation: c.1058G>A instead of C>T, heterozygous" "Germline" "?" "" "0" "" "" "g.171636382G>A" "" "likely pathogenic" "" "0000822126" "0" "70" "1" "171621525" "171621525" "subst" "0.148452" "00000" "MYOC_000084" "g.171621525C>T" "" "{PMID:Booij-2011:20801516}" "" "c.227G>A" "" "Germline" "" "rs2234936" "0" "" "" "" "" "likely pathogenic" "" "0000846660" "0" "50" "1" "171605478" "171605478" "subst" "0.00112516" "00000" "MYOC_000003" "g.171605478G>A" "" "{PMID:Fernandez-Martinez 2011:21224891}" "" "MYOC Q368X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.171636338G>A" "" "VUS" "" "0000846662" "0" "50" "1" "171605526" "171605526" "subst" "0.000889672" "00000" "MYOC_000026" "g.171605526C>T" "" "{PMID:Fernandez-Martinez 2011:21224891}" "" "MYOC E352K" "heterozygous" "Unknown" "?" "" "0" "" "" "g.171636386C>T" "" "VUS" "" "0000848389" "0" "30" "1" "171607823" "171607823" "subst" "0.0000446708" "01943" "MYOC_000111" "g.171607823A>G" "" "" "" "MYOC(NM_000261.1):c.644T>C (p.L215P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857134" "0" "50" "1" "171605522" "171605522" "subst" "0.000674353" "01943" "MYOC_000035" "g.171605522G>A" "" "" "" "MYOC(NM_000261.1):c.1058C>T (p.T353I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857135" "0" "50" "1" "171605765" "171605765" "subst" "0" "01943" "MYOC_000110" "g.171605765C>T" "" "" "" "MYOC(NM_000261.1):c.815G>A (p.R272Q)" "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 MYOC ## Count = 64 "{{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}}" "0000090721" "00014194" "50" "1309" "0" "1309" "0" "c.1309T>C" "r.(?)" "p.(Tyr437His)" "3" "0000090722" "00014194" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090723" "00014194" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "3" "0000090724" "00014194" "50" "1430" "0" "1430" "0" "c.1430T>G" "r.(?)" "p.(Ile477Ser)" "3" "0000090725" "00014194" "50" "1440" "0" "1440" "0" "c.1440C>A" "r.(?)" "p.(Asn480Lys)" "3" "0000090726" "00014194" "50" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "3" "0000090727" "00014194" "90" "1309" "0" "1309" "0" "c.1309T>C" "r.(?)" "p.(Tyr437His)" "3" "0000090728" "00014194" "90" "1309" "0" "1309" "0" "c.1309T>C" "r.(?)" "p.(Tyr437His)" "3" "0000090729" "00014194" "90" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "3" "0000090730" "00014194" "90" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "3" "0000090731" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090732" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090733" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090734" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090735" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090736" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "3" "0000090737" "00014194" "10" "1311" "0" "1311" "0" "c.1311C>T" "r.(=)" "p.(=)" "3" "0000090738" "00014194" "90" "1430" "0" "1430" "0" "c.1430T>G" "r.(?)" "p.(Ile477Ser)" "3" "0000090739" "00014194" "90" "1440" "0" "1440" "0" "c.1440C>A" "r.(?)" "p.(Asn480Lys)" "3" "0000090740" "00014194" "90" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "3" "0000090741" "00014194" "90" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "3" "0000090742" "00014194" "90" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "3" "0000090836" "00014194" "10" "26" "0" "26" "0" "c.26G>C" "r.(?)" "p.(Cys9Ser)" "1" "0000255351" "00014194" "70" "1288" "0" "1288" "0" "c.1288T>C" "r.(?)" "p.(Phe430Leu)" "" "0000302778" "00014194" "30" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Lys398Arg)" "" "0000321127" "00014194" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Glu352Lys)" "" "0000440087" "00014194" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.Arg158*" "" "0000504228" "00014194" "50" "1480" "0" "1487" "0" "c.1480_1487del" "r.(?)" "p.(Met494LeufsTer2)" "" "0000504229" "00014194" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Phe430=)" "" "0000504230" "00014194" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368Ter)" "" "0000504231" "00014194" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Gly122=)" "" "0000504232" "00014194" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Asp84=)" "" "0000604984" "00014194" "50" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Gln48His)" "" "0000620433" "00014194" "90" "1041" "0" "1041" "0" "c.1041T>G" "r.(?)" "p.(Tyr347Ter)" "" "0000647447" "00014194" "90" "1196" "0" "1196" "0" "c.1196G>T" "r.(?)" "p.(Gly399Val)" "" "0000647448" "00014194" "30" "1041" "0" "1041" "0" "c.1041T>C" "r.(=)" "p.(=)" "" "0000653808" "00014194" "10" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Thr285=)" "" "0000653809" "00014194" "30" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Thr256Met)" "" "0000668978" "00014194" "30" "1041" "0" "1041" "0" "c.1041T>C" "r.(=)" "p.(=)" "" "0000716981" "00014194" "50" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(Tyr437Cys)" "" "0000716982" "00014194" "90" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Thr377Met)" "" "0000716983" "00014194" "30" "878" "0" "878" "0" "c.878C>A" "r.(?)" "p.(Thr293Lys)" "" "0000716984" "00014194" "90" "172" "0" "172" "0" "c.172G>T" "r.(?)" "p.(Glu58Ter)" "" "0000765970" "00014194" "90" "158" "0" "158" "0" "c.158T>C" "r.(?)" "p.(Val53Ala)" "" "0000765971" "00014194" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Cys)" "" "0000765972" "00014194" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0000765973" "00014194" "90" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "" "0000765974" "00014194" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" "0000765975" "00014194" "90" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Asp378Gly)" "" "0000765976" "00014194" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" "0000765977" "00014194" "90" "878" "0" "878" "0" "c.878C>A" "r.(?)" "p.(Thr293Lys)" "" "0000765978" "00014194" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Gly387Asp)" "" "0000765979" "00014194" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Gly387Asp)" "" "0000765980" "00014194" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Leu486Phe)" "" "0000795162" "00014194" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000795302" "00014194" "70" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Asp478Tyr)" "" "0000797399" "00014194" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "" "0000812718" "00014194" "70" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Thr353Ile)" "" "0000822126" "00014194" "70" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76Lys)" "1" "0000846660" "00014194" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368Ter)" "" "0000846662" "00014194" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Glu352Lys)" "" "0000848389" "00014194" "30" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Leu215Pro)" "" "0000857134" "00014194" "50" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Thr353Ile)" "" "0000857135" "00014194" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000059937" "0000090721" "0000059937" "0000090722" "0000059937" "0000090723" "0000059937" "0000090724" "0000059937" "0000090725" "0000059937" "0000090726" "0000059938" "0000090727" "0000059939" "0000090728" "0000059940" "0000090729" "0000059941" "0000090730" "0000059942" "0000090731" "0000059943" "0000090732" "0000059944" "0000090733" "0000059945" "0000090734" "0000059946" "0000090735" "0000059947" "0000090736" "0000059948" "0000090737" "0000059949" "0000090738" "0000059950" "0000090739" "0000059951" "0000090740" "0000059952" "0000090741" "0000059953" "0000090742" "0000060047" "0000090836" "0000209859" "0000440087" "0000290758" "0000647447" "0000290759" "0000647448" "0000305290" "0000668978" "0000365020" "0000765970" "0000365021" "0000765971" "0000365022" "0000765972" "0000365023" "0000765973" "0000365024" "0000765974" "0000365025" "0000765975" "0000365026" "0000765976" "0000365027" "0000765977" "0000365028" "0000765978" "0000365029" "0000765979" "0000365030" "0000765980" "0000381658" "0000795302" "0000381667" "0000795162" "0000383338" "0000797399" "0000385624" "0000812718" "0000392026" "0000822126" "0000409467" "0000846660" "0000409475" "0000846662"