### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMP4) # 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}}" "BMP4" "bone morphogenetic protein 4" "14" "q22-q23" "unknown" "NG_009215.1" "UD_132085238600" "" "https://www.LOVD.nl/BMP4" "" "1" "1071" "652" "112262" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BMP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-12-10 13:30:06" "00006" "2025-11-23 20:06:37" ## 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}}" "00003426" "BMP4" "transcript variant 1" "002" "NM_001202.3" "" "NP_001193.2" "" "" "" "-419" "1523" "1227" "54423554" "54416454" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02305" "OFC11" "orofacial cleft, type 11 (OFC-11)" "" "600625" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02723" "MCOPS6" "microphthalmia syndromic, type 6 (MCOPS-6)" "AD" "607932" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05657" "MRKHS" "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)" "" "277000" "" "" "" "00006" "2019-09-30 13:16:32" "00006" "2021-12-10 21:51:32" "07204" "ASGD" "dysgenesis, anterior segment" "" "" "" "" "" "00006" "2025-11-23 20:01:41" "00006" "2025-11-26 23:03:04" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BMP4" "02305" "BMP4" "02723" ## Individuals ## Do not remove or alter this header ## ## Count = 45 "{{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}}" "00090442" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090443" "" "" "" "3" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090444" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090445" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090446" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090447" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090448" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090449" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090450" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090451" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090452" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090453" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090454" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00104037" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-760A" "00155750" "" "" "" "5" "" "02414" "" "" "M" "no" "United Kingdom (Great Britain)" "22y" "0" "" "" "White" "" "00165221" "" "" "00155750" "1" "" "02414" "" "" "M" "no" "United Kingdom (Great Britain)" "62y" "0" "" "" "White" "" "00165222" "" "" "00155750" "1" "" "02414" "" "" "F" "no" "United Kingdom (Great Britain)" "61y" "0" "" "" "" "" "00165224" "" "" "00155750" "1" "" "02414" "" "" "F" "no" "United Kingdom (Great Britain)" "59y" "0" "" "" "" "" "00165225" "" "" "00155750" "1" "" "02414" "" "" "M" "no" "United Kingdom (Great Britain)" "21y" "0" "" "" "White" "" "00165233" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-1" "00165234" "" "" "" "1" "" "00006" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-ca" "00165235" "" "" "" "1" "" "00006" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-co" "00165236" "" "" "" "2" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-2" "00165237" "" "" "" "2" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-3" "00165238" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-4" "00165239" "" "" "" "1" "" "00006" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-7b" "00165240" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-5" "00165241" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-6" "00165242" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-7a" "00165243" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-8" "00165244" "" "" "" "1" "" "00002" "{PMID:Lubbe 2011:20949628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20949628-9" "00205367" "" "" "" "1" "" "03100" "" "" "M" "no" "Spain" "" "0" "Yes" "" "white" "" "00218415" "" "" "" "1" "" "01677" "" "" "M" "no" "" "" "0" "" "" "European, Vietnamese" "" "00326947" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "F" "" "China" "" "0" "" "" "Han" "MRK664" "00326948" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "F" "" "China" "" "0" "" "" "Han" "MRK166" "00326962" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "F" "" "" "" "0" "" "" "Europe" "SEA13834" "00363771" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "M" "" "China" "" "0" "" "" "" "G555" "00363772" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G370" "00380391" "" "" "" "1" "" "00006" "{PMID:Stoltz 2021:34375587}" "" "M" "" "" "" "0" "" "" "" "I668T.1" "00384378" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14073" "00408885" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "1" "00444866" "" "" "" "3" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected grndfather/father/sib" "" "" "China" "" "0" "" "" "" "Fam6" "00446548" "" "" "" "4" "" "00006" "{PMID:Liu 2023:37337769}" "3-generation family, 3 affected (3M)" "M" "" "China" "" "0" "" "" "" "Fam162Pat432" "00446550" "" "" "00446548" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam162Pat434" "00469933" "" "" "" "1" "" "00006" "{PMID:Thanikachalam 2020:32224865}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "white;Hispanic" "Fam6PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00090442" "00091" "00090443" "00091" "00090444" "00091" "00090445" "00091" "00090446" "00091" "00090447" "00091" "00090448" "00091" "00090449" "00091" "00090450" "00091" "00090451" "00091" "00090452" "00091" "00090453" "00091" "00090454" "00000" "00104037" "03381" "00155750" "04224" "00165221" "04224" "00165222" "04224" "00165224" "04224" "00165225" "04224" "00165233" "00091" "00165234" "00091" "00165235" "00000" "00165236" "00000" "00165237" "00000" "00165238" "00091" "00165239" "00000" "00165240" "00091" "00165241" "00091" "00165242" "00091" "00165243" "00091" "00165244" "00000" "00218415" "02723" "00326947" "05657" "00326948" "05657" "00326962" "05657" "00363771" "04267" "00363772" "04267" "00380391" "05611" "00384378" "04214" "00408885" "04214" "00444866" "00296" "00446548" "00296" "00446550" "00000" "00469933" "07204" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00296, 02305, 02723, 03381, 04214, 04224, 04267, 05611, 05657, 07204 ## Count = 25 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081971" "03381" "00104037" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130106" "04224" "00155750" "02414" "Familial, autosomal dominant" "20y" "HP:0004327 Abnormality of the vitreous humor\r\nHP:0000545 Myopia\r\nHP:0000110 Renal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130107" "04224" "00165221" "02414" "Familial, autosomal dominant" "42y" "HP:0000541 Retinal detachment\r\nHP:0000545 Myopia\r\nHP:0000407 Sensorineural hearing impairment\r\nHP:0011800 Midface retrusion\r\nHP:0000278 Retrognathia" "" "42y" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Type 2 Stickler syndrome" "" "0000130108" "04224" "00165222" "02414" "Familial, autosomal dominant" "41y" "HP:0000541 Retinal detachment\r\nHP:0000545 Myopia\r\nHP:0000407 Sensorineural hearing impairment\r\nHP:0000278 Retrognathia" "" "41y" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Type 2 Stickler syndrome" "" "0000130109" "04224" "00165224" "02414" "Familial, autosomal dominant" "39y" "HP:0000541 Retinal detachment\r\nHP:0000545 Myopia\r\nHP:0000407 Sensorineural hearing impairment\r\nHP:0011800 Midface retrusion\r\nHP:0000278 Retrognathia" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Type 2 Stickler syndrome" "" "0000130110" "04224" "00165225" "02414" "Familial, autosomal dominant" "20y" "HP:0004327 Abnormality of the vitreous humor\r\nHP:0000545 Myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130112" "00091" "00165233" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130113" "00091" "00165234" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130114" "00091" "00165238" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130115" "00091" "00165240" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130116" "00091" "00165241" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130117" "00091" "00165242" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000130118" "00091" "00165243" "00002" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal (CRC)" "" "0000166899" "02723" "00218415" "01677" "-" "" "mild delayed milestones, delayed\r\nspeech, mild hypotonia, dysmorphic features, macrocephaly, post axial\r\npolydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245412" "05657" "00326947" "00006" "Unknown" "" "see paper; ..., idiopathic scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "Mayer-Rokitansky-Küster-Hauser type II" "" "0000245413" "05657" "00326948" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "Mayer-Rokitansky-Küster-Hauser type I" "" "0000245427" "05657" "00326962" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "Mayer-Rokitansky-Küster-Hauser type I" "" "0000259118" "04267" "00363771" "00000" "Unknown" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259119" "04267" "00363772" "00000" "Unknown" "52y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000274242" "05611" "00380391" "00006" "Isolated (sporadic)" "12y" "autism spectrum disorder; N.R.; no hypotonia; no hypertonia; no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000278163" "04214" "00384378" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000301003" "04214" "00408885" "00000" "Unknown" "1y7m" "Extreme Microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000334116" "00296" "00444866" "00006" "Familial, autosomal dominant" "" "binocular, nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT10" "cataract" "" "0000335754" "00296" "00446548" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000355078" "07204" "00469933" "00006" "Isolated (sporadic)" "9y" "see paper; ..., bilateral Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "anterior segment dysgenesis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090587" "00090442" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090588" "00090443" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090589" "00090444" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090590" "00090445" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090591" "00090446" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090592" "00090447" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090593" "00090448" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090594" "00090449" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090595" "00090450" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090596" "00090451" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090597" "00090452" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090598" "00090453" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090599" "00090454" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000104508" "00104037" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000156616" "00155750" "1" "02414" "02414" "2018-03-29 13:47:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000166097" "00165222" "1" "02414" "02414" "2018-07-02 17:07:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000166098" "00165221" "1" "02414" "02414" "2018-07-02 17:15:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000166099" "00165224" "1" "02414" "02414" "2018-07-02 17:20:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000166101" "00165225" "1" "02414" "02414" "2018-07-02 17:26:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000166109" "00165233" "1" "00002" "00002" "2011-05-25 10:03:31" "" "" "SEQ" "DNA" "" "" "0000166110" "00165234" "1" "00006" "00006" "2011-06-25 11:46:42" "" "" "SEQ" "DNA" "" "" "0000166111" "00165235" "1" "00006" "00006" "2011-06-25 11:46:42" "" "" "SEQ" "DNA" "" "" "0000166112" "00165236" "1" "00002" "00002" "2011-05-25 10:26:49" "" "" "SEQ" "DNA" "" "" "0000166113" "00165237" "1" "00002" "00002" "2011-05-25 10:31:40" "" "" "SEQ" "DNA" "" "" "0000166114" "00165238" "1" "00002" "00002" "2011-05-25 11:08:46" "" "" "SEQ" "DNA" "" "" "0000166115" "00165239" "1" "00006" "00006" "2011-06-25 11:46:42" "" "" "SEQ" "DNA" "" "" "0000166116" "00165240" "1" "00002" "00002" "2011-05-25 11:15:09" "" "" "SEQ" "DNA" "" "" "0000166117" "00165241" "1" "00002" "00002" "2011-05-25 11:19:14" "" "" "SEQ" "DNA" "" "" "0000166118" "00165242" "1" "00002" "00002" "2011-05-25 11:26:51" "" "" "SEQ" "DNA" "" "" "0000166119" "00165243" "1" "00002" "00002" "2011-05-25 11:30:55" "" "" "SEQ" "DNA" "" "" "0000166120" "00165244" "1" "00002" "00002" "2011-05-25 11:34:13" "" "" "SEQ" "DNA" "" "" "0000206397" "00205367" "1" "03100" "03100" "2018-11-11 11:08:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000219486" "00218415" "1" "01677" "01677" "2019-01-29 17:59:01" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000328159" "00326947" "1" "00006" "00006" "2021-01-17 16:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328160" "00326948" "1" "00006" "00006" "2021-01-17 16:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328174" "00326962" "1" "00006" "00006" "2021-01-17 16:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364999" "00363771" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365000" "00363772" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000381605" "00380391" "1" "00006" "00006" "2021-08-13 20:56:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000385603" "00384378" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000410150" "00408885" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000446435" "00444866" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448121" "00446548" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448123" "00446550" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000471601" "00469933" "1" "00006" "00006" "2025-11-23 20:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000090587" "BMP4" "0000090588" "BMP4" "0000090589" "BMP4" "0000090590" "BMP4" "0000090591" "BMP4" "0000090592" "BMP4" "0000090593" "BMP4" "0000090594" "BMP4" "0000090595" "BMP4" "0000090596" "BMP4" "0000090597" "BMP4" "0000090598" "BMP4" "0000090599" "BMP4" "0000156616" "BMP4" "0000166097" "BMP4" "0000166098" "BMP4" "0000166099" "BMP4" "0000166101" "BMP4" "0000166109" "BMP4" "0000166110" "BMP4" "0000166111" "BMP4" "0000166112" "BMP4" "0000166113" "BMP4" "0000166114" "BMP4" "0000166115" "BMP4" "0000166116" "BMP4" "0000166117" "BMP4" "0000166118" "BMP4" "0000166119" "BMP4" "0000166120" "BMP4" "0000328159" "BMP4" "0000328160" "BMP4" "0000328174" "BMP4" "0000364999" "BMP4" "0000365000" "BMP4" "0000385603" "BMP4" "0000410150" "OTX2" ## 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 = 93 "{{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}}" "0000148716" "1" "50" "14" "54417079" "54417079" "subst" "3.65901E-5" "01816" "BMP4_000013" "g.54417079G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950361G>A" "" "VUS" "" "0000148717" "1" "50" "14" "54417117" "54417117" "subst" "0.000805756" "01816" "BMP4_000006" "g.54417117C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950399C>T" "" "VUS" "" "0000148718" "1" "50" "14" "54417120" "54417120" "subst" "4.06954E-6" "01816" "BMP4_000029" "g.54417120C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950402C>A" "" "VUS" "" "0000148719" "1" "50" "14" "54417171" "54417171" "subst" "0.000284981" "01816" "BMP4_000036" "g.54417171C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950453C>T" "" "VUS" "" "0000148720" "1" "50" "14" "54417226" "54417226" "subst" "0.000125931" "01816" "BMP4_000011" "g.54417226G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950508G>A" "" "VUS" "" "0000148721" "1" "50" "14" "54417301" "54417301" "subst" "0.000349304" "01816" "BMP4_000004" "g.54417301G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950583G>A" "" "VUS" "" "0000148722" "1" "50" "14" "54417411" "54417411" "subst" "4.06101E-6" "01816" "BMP4_000025" "g.54417411T>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53950693T>A" "" "VUS" "" "0000148723" "1" "50" "14" "54418579" "54418579" "subst" "0.000332452" "01816" "BMP4_000026" "g.54418579T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53951861T>C" "" "VUS" "" "0000148724" "1" "50" "14" "54418669" "54418669" "subst" "0.000198131" "01816" "BMP4_000027" "g.54418669G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53951951G>C" "" "VUS" "" "0000148725" "1" "50" "14" "54418691" "54418691" "subst" "0" "01816" "BMP4_000021" "g.54418691G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53951973G>C" "" "VUS" "" "0000148726" "1" "50" "14" "54418713" "54418713" "subst" "0.000578247" "01816" "BMP4_000022" "g.54418713A>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53951995A>T" "" "VUS" "" "0000148727" "1" "50" "14" "54418817" "54418817" "subst" "0.000284446" "01816" "BMP4_000023" "g.54418817C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53952099C>G" "" "VUS" "" "0000148728" "1" "90" "14" "54420119" "54420119" "subst" "0" "01816" "BMP4_000024" "g.54420119C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.53953401C>T" "" "pathogenic" "" "0000169249" "0" "70" "14" "54417513" "54417513" "subst" "0" "00587" "BMP4_000014" "g.54417513G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001202.3(BMP4):c.464C>T p.(Ser155Phe)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.53950795G>A" "" "likely pathogenic" "" "0000247234" "0" "10" "14" "54418865" "54418865" "subst" "0.00162918" "02330" "BMP4_000031" "g.54418865A>G" "" "" "" "BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952147A>G" "" "benign" "" "0000248223" "0" "10" "14" "54417522" "54417522" "subst" "0.454075" "02325" "BMP4_000010" "g.54417522A>G" "" "" "" "BMP4(NM_001202.6):c.455T>C (p.V152A), BMP4(NM_001347916.1):c.455T>C (p.V152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950804A>G" "" "benign" "" "0000248340" "0" "30" "14" "54418865" "54418865" "subst" "0.00162918" "02325" "BMP4_000031" "g.54418865A>G" "" "" "" "BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952147A>G" "" "likely benign" "" "0000250248" "0" "30" "14" "54418865" "54418865" "subst" "0.00162918" "02329" "BMP4_000031" "g.54418865A>G" "" "" "" "BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952147A>G" "" "likely benign" "" "0000250926" "0" "10" "14" "54417522" "54417522" "subst" "0.454075" "02326" "BMP4_000010" "g.54417522A>G" "" "" "" "BMP4(NM_001202.6):c.455T>C (p.V152A), BMP4(NM_001347916.1):c.455T>C (p.V152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950804A>G" "" "benign" "" "0000258674" "0" "50" "14" "54418817" "54418817" "subst" "0.000284446" "02330" "BMP4_000023" "g.54418817C>G" "" "" "" "BMP4(NM_001202.6):c.124G>C (p.A42P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952099C>G" "" "VUS" "" "0000258675" "0" "30" "14" "54417475" "54417475" "subst" "0.000138371" "02330" "BMP4_000019" "g.54417475C>G" "" "" "" "BMP4(NM_001202.6):c.502G>C (p.G168R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950757C>G" "" "likely benign" "" "0000258676" "0" "30" "14" "54417117" "54417117" "subst" "0.000805756" "02330" "BMP4_000006" "g.54417117C>T" "" "" "" "BMP4(NM_001202.5):c.860G>A (p.R287H), BMP4(NM_001202.6):c.860G>A (p.R287H, p.(Arg287His)), BMP4(NM_001347916.1):c.860G>A (p.R287H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950399C>T" "" "likely benign" "" "0000260405" "0" "50" "14" "54418925" "54418925" "subst" "0" "02329" "BMP4_000032" "g.54418925G>C" "" "" "" "BMP4(NM_001202.5):c.16C>G (p.R6G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952207G>C" "" "VUS" "" "0000261485" "0" "10" "14" "54418986" "54418986" "subst" "0.887714" "02326" "BMP4_000033" "g.54418986T>C" "" "" "" "BMP4(NM_001202.6):c.-7-39A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53952268T>C" "" "benign" "" "0000261486" "0" "30" "14" "54418543" "54418543" "subst" "0.00791988" "02326" "BMP4_000030" "g.54418543C>T" "" "" "" "BMP4(NM_001202.6):c.370+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53951825C>T" "" "likely benign" "" "0000263728" "0" "50" "14" "54417301" "54417301" "subst" "0.000349304" "01943" "BMP4_000004" "g.54417301G>A" "" "" "" "BMP4(NM_001202.5):c.676C>T (p.R226W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950583G>A" "" "VUS" "" "0000263729" "0" "50" "14" "54417138" "54417138" "subst" "1.62774E-5" "01943" "BMP4_000016" "g.54417138C>T" "" "" "" "BMP4(NM_001202.5):c.839G>A (p.R280Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950420C>T" "" "VUS" "" "0000323685" "0" "50" "14" "54417246" "54417246" "subst" "0.000223399" "01804" "BMP4_000017" "g.54417246G>A" "" "" "" "BMP4(NM_001202.3):c.731C>T (p.(Thr244Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53950528G>A" "" "VUS" "" "0000359657" "21" "90" "14" "54418811" "54418811" "subst" "0" "02414" "BMP4_000034" "g.54418811C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53952093C>A" "" "pathogenic" "" "0000370529" "10" "90" "14" "54418811" "54418811" "subst" "0" "02414" "BMP4_000034" "g.54418811C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53952093C>A" "" "pathogenic" "" "0000370530" "10" "90" "14" "54418811" "54418811" "subst" "0" "02414" "BMP4_000034" "g.54418811C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53952093C>A" "" "pathogenic" "" "0000370531" "10" "90" "14" "54418811" "54418811" "subst" "0" "02414" "BMP4_000034" "g.54418811C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53952093C>A" "" "pathogenic" "" "0000370532" "21" "90" "14" "54418811" "54418811" "subst" "0" "02414" "BMP4_000034" "g.54418811C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53952093C>A" "" "pathogenic" "" "0000370542" "0" "50" "14" "54418663" "54418663" "subst" "2.48715E-5" "00002" "BMP4_000001" "g.54418663T>C" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.6788A>G" "" "Germline" "" "" "0" "" "" "g.53951945T>C" "" "VUS" "" "0000370543" "0" "11" "14" "54417522" "54417522" "subst" "0.454075" "00006" "BMP4_000010" "g.54417522A>G" "0.44" "{PMID:Lubbe 2011:20949628}" "" "" "" "Germline" "" "" "0" "" "" "g.53950804A>G" "" "benign" "" "0000370544" "0" "11" "14" "54417522" "54417522" "subst" "0.454075" "00006" "BMP4_000010" "g.54417522A>G" "0.41" "{PMID:Lubbe 2011:20949628}" "" "" "" "Germline" "" "" "0" "" "" "g.53950804A>G" "" "benign" "" "0000370545" "0" "50" "14" "54417516" "54417516" "subst" "8.18934E-6" "00002" "BMP4_000002" "g.54417516G>A" "2/524 controls" "{PMID:Lubbe 2011:20949628}" "" "g.7935C>T" "" "Germline" "" "" "0" "" "" "g.53950798G>A" "" "VUS" "" "0000370546" "0" "50" "14" "54417304" "54417304" "subst" "0.000109656" "00002" "BMP4_000003" "g.54417304T>C" "2/524 controls" "{PMID:Lubbe 2011:20949628}" "" "g.8147A>G" "" "Germline" "" "" "0" "" "" "g.53950586T>C" "" "VUS" "" "0000370547" "0" "50" "14" "54417301" "54417301" "subst" "0.000349304" "00002" "BMP4_000004" "g.54417301G>A" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.8150C>T" "" "Germline" "" "" "0" "" "" "g.53950583G>A" "" "VUS" "" "0000370548" "0" "50" "14" "54417301" "54417301" "subst" "0.000349304" "00006" "BMP4_000004" "g.54417301G>A" "1/524 controls" "{PMID:Lubbe 2011:20949628}" "" "g.8150C>T" "" "Germline" "" "" "0" "" "" "g.53950583G>A" "" "VUS" "" "0000370549" "0" "90" "14" "54417121" "54417121" "subst" "8.13928E-6" "00002" "BMP4_000005" "g.54417121G>A" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.8330C>T" "not in 1048 control chromosomes" "Germline" "" "" "0" "" "" "g.53950403G>A" "" "pathogenic" "" "0000370550" "0" "50" "14" "54417117" "54417117" "subst" "0.000805756" "00002" "BMP4_000006" "g.54417117C>T" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.8334G>A" "" "Germline" "" "" "0" "" "" "g.53950399C>T" "" "VUS" "" "0000370551" "0" "90" "14" "54417002" "54417002" "subst" "0" "00002" "BMP4_000007" "g.54417002C>A" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.8449G>T" "not in 1048 control chromosomes" "Germline" "" "" "0" "" "" "g.53950284C>A" "" "pathogenic" "" "0000370552" "0" "90" "14" "54416859" "54416859" "subst" "0" "00002" "BMP4_000008" "g.54416859C>G" "1/504 cases" "{PMID:Lubbe 2011:20949628}" "" "g.8592G>C" "not in 1048 control chromosomes" "Germline" "" "" "0" "" "" "g.53950141C>G" "" "pathogenic" "" "0000370553" "0" "50" "14" "54416836" "54416836" "subst" "0" "00002" "BMP4_000009" "g.54416836T>C" "1/524 controls" "{PMID:Lubbe 2011:20949628}" "" "g.8615A>G" "" "Germline" "" "" "0" "" "" "g.53950118T>C" "" "VUS" "" "0000435948" "0" "90" "14" "54417183" "54417183" "subst" "0" "03100" "BMP4_000037" "g.54417183C>T" "" "" "" "" "in press" "Germline/De novo (untested)" "?" "" "0" "" "" "g.53950465C>T" "" "pathogenic (dominant)" "" "0000454355" "0" "70" "14" "54416925" "54416925" "subst" "0" "01677" "BMP4_000038" "g.54416925G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.53950207G>C" "" "likely pathogenic" "" "0000454356" "21" "30" "14" "54417226" "54417226" "subst" "0.000125931" "01677" "BMP4_000011" "g.54417226G>A" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.53950508G>A" "" "likely benign" "" "0000552666" "0" "30" "14" "54417117" "54417117" "subst" "0.000805756" "01943" "BMP4_000006" "g.54417117C>T" "" "" "" "BMP4(NM_001202.5):c.860G>A (p.R287H), BMP4(NM_001202.6):c.860G>A (p.R287H, p.(Arg287His)), BMP4(NM_001347916.1):c.860G>A (p.R287H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53950399C>T" "" "likely benign" "" "0000552667" "0" "50" "14" "54417369" "54417369" "del" "0" "01804" "BMP4_000039" "g.54417369del" "" "" "" "BMP4(NM_001202.3):c.608delG (p.(Arg203AsnfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53950651del" "" "VUS" "" "0000552668" "0" "10" "14" "54417522" "54417522" "subst" "0.454075" "02330" "BMP4_000010" "g.54417522A>G" "" "" "" "BMP4(NM_001202.6):c.455T>C (p.V152A), BMP4(NM_001347916.1):c.455T>C (p.V152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53950804A>G" "" "benign" "" "0000552669" "0" "10" "14" "54418596" "54418596" "subst" "0.000561927" "02330" "BMP4_000040" "g.54418596G>A" "" "" "" "BMP4(NM_001202.6):c.345C>T (p.N115=), BMP4(NM_001347916.1):c.345C>T (p.N115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53951878G>A" "" "benign" "" "0000552670" "0" "30" "14" "54418865" "54418865" "subst" "0.00162918" "01943" "BMP4_000031" "g.54418865A>G" "" "" "" "BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53952147A>G" "" "likely benign" "" "0000552671" "0" "70" "14" "54418925" "54418925" "subst" "0" "02327" "BMP4_000041" "g.54418925G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53952207G>A" "" "likely pathogenic" "" "0000614976" "0" "90" "14" "54417121" "54417121" "subst" "8.13928E-6" "01943" "BMP4_000005" "g.54417121G>A" "" "" "" "BMP4(NM_001347916.1):c.856C>T (p.R286*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53950403G>A" "" "pathogenic" "" "0000614977" "0" "30" "14" "54418713" "54418713" "subst" "0.000578247" "02330" "BMP4_000022" "g.54418713A>T" "" "" "" "BMP4(NM_001347916.1):c.228T>A (p.S76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53951995A>T" "" "likely benign" "" "0000657455" "0" "10" "14" "54418593" "54418593" "subst" "4.25804E-6" "02330" "BMP4_000042" "g.54418593G>A" "" "" "" "BMP4(NM_001347916.1):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53951875G>A" "" "benign" "" "0000691674" "0" "50" "14" "54416989" "54416989" "subst" "0" "01943" "BMP4_000043" "g.54416989G>T" "" "" "" "BMP4(NM_001347916.1):c.988C>A (p.P330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691675" "0" "50" "14" "54416990" "54416990" "subst" "0" "01943" "BMP4_000044" "g.54416990T>C" "" "" "" "BMP4(NM_001347916.1):c.987A>G (p.P329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691676" "0" "30" "14" "54418593" "54418593" "subst" "4.25804E-6" "01943" "BMP4_000042" "g.54418593G>A" "" "" "" "BMP4(NM_001347916.1):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712083" "21" "90" "14" "54418574" "54418574" "subst" "0" "00006" "BMP4_000046" "g.54418574C>A" "1/442 cases" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "" "mother mosaic" "Germline" "" "" "0" "" "" "g.53951856C>A" "" "pathogenic" "" "0000712084" "11" "90" "14" "54420119" "54420119" "subst" "0" "00006" "BMP4_000024" "g.54420119C>T" "1/442 cases" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "" "" "Germline" "" "" "0" "" "" "g.53953401C>T" "" "pathogenic" "" "0000712098" "0" "90" "14" "54417211" "54417211" "subst" "0" "00006" "BMP4_000045" "g.54417211G>A" "" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.53950493G>A" "" "pathogenic" "" "0000724794" "0" "10" "14" "54417522" "54417522" "subst" "0.454075" "02329" "BMP4_000010" "g.54417522A>G" "" "" "" "BMP4(NM_001202.6):c.455T>C (p.V152A), BMP4(NM_001347916.1):c.455T>C (p.V152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724795" "0" "30" "14" "54418596" "54418596" "subst" "0.000561927" "01943" "BMP4_000040" "g.54418596G>A" "" "" "" "BMP4(NM_001202.6):c.345C>T (p.N115=), BMP4(NM_001347916.1):c.345C>T (p.N115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765949" "0" "70" "14" "54417527" "54417527" "subst" "1.2346E-5" "00000" "BMP4_000047" "g.54417527G>C" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.53950809G>C" "" "likely pathogenic" "" "0000765950" "0" "70" "14" "54417475" "54417475" "subst" "0.000138371" "00000" "BMP4_000019" "g.54417475C>G" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.53950757C>G" "" "likely pathogenic" "" "0000795088" "0" "50" "14" "54416828" "54416828" "" "0" "00006" "BMP4_000048" "g.54416828C>D" "" "{PMID:Stoltz 2021:34375587}" "" "Met383Ile" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000806423" "0" "50" "14" "54416976" "54416976" "subst" "0" "01943" "BMP4_000050" "g.54416976G>T" "" "" "" "BMP4(NM_001202.6):c.1001C>A (p.A334D), BMP4(NM_001347916.1):c.1001C>A (p.A334D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806424" "0" "50" "14" "54417049" "54417049" "subst" "0" "01943" "BMP4_000051" "g.54417049G>A" "" "" "" "BMP4(NM_001347916.1):c.928C>T (p.R310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806425" "0" "30" "14" "54418865" "54418865" "subst" "0.00162918" "02326" "BMP4_000031" "g.54418865A>G" "" "" "" "BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812694" "0" "70" "14" "54417358" "54417358" "subst" "4.06111E-6" "00000" "BMP4_000052" "g.54417358G>C" "" "{PMID:Wang 2019:31106028}" "" "c.619G>C, p.(His207Asp)" "error in annotation: c.619G>C instead of C>G, heterozygous" "Germline" "?" "" "0" "" "" "g.53950640G>C" "" "likely pathogenic" "" "0000847412" "0" "70" "14" "53758044" "56834649" "del" "0" "00000" "ATG14_000012" "g.53758044_56834649del" "" "" "" "Whole gene deletion" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000863577" "0" "50" "14" "54416976" "54416976" "subst" "0" "02325" "BMP4_000050" "g.54416976G>T" "" "" "" "BMP4(NM_001202.6):c.1001C>A (p.A334D), BMP4(NM_001347916.1):c.1001C>A (p.A334D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863578" "0" "50" "14" "54417255" "54417255" "subst" "0" "02330" "BMP4_000053" "g.54417255A>T" "" "" "" "BMP4(NM_001347916.1):c.722T>A (p.L241H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891810" "0" "30" "14" "54418823" "54418823" "subst" "4.46936E-5" "01804" "BMP4_000054" "g.54418823C>T" "" "" "" "BMP4(NM_001202.3):c.118G>A (p.(Gly40Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891811" "0" "30" "14" "54418911" "54418911" "subst" "8.13173E-6" "02330" "BMP4_000055" "g.54418911G>C" "" "" "" "BMP4(NM_001347916.1):c.30C>G (p.V10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914198" "0" "30" "14" "54418596" "54418596" "subst" "0.000561927" "02329" "BMP4_000040" "g.54418596G>A" "" "" "" "BMP4(NM_001202.6):c.345C>T (p.N115=), BMP4(NM_001347916.1):c.345C>T (p.N115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925886" "0" "50" "14" "54417120" "54417120" "subst" "4.06954E-6" "01804" "BMP4_000056" "g.54417120C>G" "" "" "" "BMP4(NM_001202.3):c.857G>C (p.(Arg286Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954778" "21" "90" "14" "54417226" "54417226" "subst" "0.000125931" "00006" "BMP4_000011" "g.54417226G>A" "" "{PMID:Fan 2020:32883240}" "" "" "variant in unaffected mother" "Germline" "" "" "0" "" "" "g.53950508G>A" "" "pathogenic (dominant)" "" "0000957501" "21" "50" "14" "54417226" "54417226" "subst" "0.000125931" "00006" "BMP4_000011" "g.54417226G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "no" "rs200671094" "0" "" "" "g.53950508G>A" "rs200671094" "VUS" "" "0000957503" "0" "50" "14" "54417226" "54417226" "subst" "0.000125931" "00006" "BMP4_000011" "g.54417226G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "no" "rs200671094" "0" "" "" "g.53950508G>A" "rs200671094" "VUS" "" "0000967498" "0" "30" "14" "54417304" "54417304" "subst" "0.000109656" "02325" "BMP4_000003" "g.54417304T>C" "" "" "" "BMP4(NM_001202.6):c.673A>G (p.T225A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980931" "0" "50" "14" "54420101" "54420101" "subst" "0" "01804" "BMP4_000057" "g.54420101G>A" "" "" "" "BMP4(NM_001347912.1):c.80C>T (p.(Pro27Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040001" "0" "30" "14" "54417051" "54417051" "subst" "2.03155E-5" "01804" "BMP4_000058" "g.54417051C>T" "" "" "" "BMP4(NM_001202.6):c.926G>A (p.(Arg309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040002" "0" "50" "14" "54417561" "54417561" "subst" "4.19812E-5" "01804" "BMP4_000059" "g.54417561C>T" "" "" "" "BMP4(NM_001202.6):c.416G>A (p.(Arg139His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040003" "0" "30" "14" "54418579" "54418579" "subst" "0.000332452" "01804" "BMP4_000026" "g.54418579T>C" "" "" "" "BMP4(NM_001202.6):c.362A>G (p.(His121Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040004" "0" "50" "14" "54423482" "54423482" "subst" "0" "01804" "BMP4_000060" "g.54423482T>A" "" "" "" "BMP4(NM_001347912.1):c.57A>T (p.(Glu19Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054838" "0" "10" "14" "54417117" "54417117" "subst" "0.000805756" "01804" "BMP4_000006" "g.54417117C>T" "" "" "" "BMP4(NM_001202.5):c.860G>A (p.R287H), BMP4(NM_001202.6):c.860G>A (p.R287H, p.(Arg287His)), BMP4(NM_001347916.1):c.860G>A (p.R287H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054839" "0" "50" "14" "54417318" "54417318" "subst" "8.1246E-6" "01804" "BMP4_000061" "g.54417318G>A" "" "" "" "BMP4(NM_001202.6):c.659C>T (p.(Ala220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054840" "0" "50" "14" "54420096" "54420096" "subst" "0" "01804" "BMP4_000062" "g.54420096G>C" "" "" "" "BMP4(NM_001347912.1):c.85C>G (p.(Arg29Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054841" "0" "50" "14" "54420119" "54420119" "subst" "0" "01804" "BMP4_000024" "g.54420119C>T" "" "" "" "BMP4(NM_001202.6):c.-132-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059818" "0" "90" "14" "54417459" "54417459" "dup" "0" "00006" "BMP4_000063" "g.54417459dup" "" "{PMID:Thanikachalam 2020:32224865}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.53950741dup" "" "pathogenic (dominant)" "ACMG" ## 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 BMP4 ## Count = 93 "{{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}}" "0000148716" "00003426" "00" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Trp)" "" "0000148717" "00003426" "00" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "" "0000148718" "00003426" "00" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Arg286Leu)" "" "0000148719" "00003426" "00" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0000148720" "00003426" "00" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(His251Tyr)" "" "0000148721" "00003426" "00" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Trp)" "" "0000148722" "00003426" "00" "566" "0" "566" "0" "c.566A>T" "r.(?)" "p.(Glu189Val)" "" "0000148723" "00003426" "00" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(His121Arg)" "" "0000148724" "00003426" "00" "272" "0" "272" "0" "c.272C>G" "r.(?)" "p.(Ser91Cys)" "" "0000148725" "00003426" "00" "250" "0" "250" "0" "c.250C>G" "r.(?)" "p.(Arg84Gly)" "" "0000148726" "00003426" "00" "228" "0" "228" "0" "c.228T>A" "r.(?)" "p.(Ser76Arg)" "" "0000148727" "00003426" "00" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Ala42Pro)" "" "0000148728" "00003426" "00" "-132" "-1" "-132" "-1" "c.-132-1G>A" "r.spl?" "p.?" "" "0000169249" "00003426" "00" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ser155Phe)" "" "0000247234" "00003426" "10" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Leu26=)" "" "0000248223" "00003426" "10" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "" "0000248340" "00003426" "30" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Leu26=)" "" "0000250248" "00003426" "30" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Leu26=)" "" "0000250926" "00003426" "10" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "" "0000258674" "00003426" "50" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Ala42Pro)" "" "0000258675" "00003426" "30" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Gly168Arg)" "" "0000258676" "00003426" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "" "0000260405" "00003426" "50" "16" "0" "16" "0" "c.16C>G" "r.(?)" "p.(Arg6Gly)" "" "0000261485" "00003426" "10" "-7" "-39" "-7" "-39" "c.-7-39A>G" "r.(=)" "p.(=)" "" "0000261486" "00003426" "30" "370" "28" "370" "28" "c.370+28G>A" "r.(=)" "p.(=)" "" "0000263728" "00003426" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Trp)" "" "0000263729" "00003426" "50" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280Gln)" "" "0000323685" "00003426" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0000359657" "00003426" "90" "130" "0" "130" "0" "c.130G>T" "r.(130g>u)" "p.(Gly44*)" "3" "0000370529" "00003426" "90" "130" "0" "130" "0" "c.130G>T" "r.(130g>u)" "p.(Gly44*)" "3" "0000370530" "00003426" "90" "130" "0" "130" "0" "c.130G>T" "r.(130g>u)" "p.(Gly44*)" "3" "0000370531" "00003426" "90" "130" "0" "130" "0" "c.130G>T" "r.(130g>u)" "p.(Gly44*)" "3" "0000370532" "00003426" "90" "130" "0" "130" "0" "c.130G>T" "r.(130g>u)" "p.(Gly44*)" "3" "0000370542" "00003426" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Glu93Gly)" "3" "0000370543" "00003426" "11" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "4" "0000370544" "00003426" "11" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "4" "0000370545" "00003426" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ser154Phe)" "4" "0000370546" "00003426" "50" "673" "0" "673" "0" "c.673A>G" "r.(?)" "p.(Thr225Ala)" "4" "0000370547" "00003426" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Trp)" "4" "0000370548" "00003426" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Trp)" "4" "0000370549" "00003426" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286*)" "4" "0000370550" "00003426" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "4" "0000370551" "00003426" "90" "975" "0" "975" "0" "c.975G>T" "r.(?)" "p.(Trp325Cys)" "4" "0000370552" "00003426" "90" "1118" "0" "1118" "0" "c.1118G>C" "r.(?)" "p.(Cys373Ser)" "4" "0000370553" "00003426" "50" "1141" "0" "1141" "0" "c.1141A>G" "r.(?)" "p.(Ile381Val)" "4" "0000435948" "00003426" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Trp265*)" "4" "0000454355" "00003426" "70" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Ser351*)" "4" "0000454356" "00003426" "30" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(His251Tyr)" "4" "0000552666" "00003426" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "" "0000552667" "00003426" "50" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Arg203AsnfsTer7)" "" "0000552668" "00003426" "10" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "" "0000552669" "00003426" "10" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Asn115=)" "" "0000552670" "00003426" "30" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Leu26=)" "" "0000552671" "00003426" "70" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Ter)" "" "0000614976" "00003426" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Ter)" "" "0000614977" "00003426" "30" "228" "0" "228" "0" "c.228T>A" "r.(?)" "p.(Ser76Arg)" "" "0000657455" "00003426" "10" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Thr116=)" "" "0000691674" "00003426" "50" "988" "0" "988" "0" "c.988C>A" "r.(?)" "p.(Pro330Thr)" "" "0000691675" "00003426" "50" "987" "0" "987" "0" "c.987A>G" "r.(?)" "p.(Pro329=)" "" "0000691676" "00003426" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Thr116=)" "" "0000712083" "00003426" "90" "367" "0" "367" "0" "c.367G>T" "r.(?)" "p.(Glu123*)" "" "0000712084" "00003426" "90" "-132" "-1" "-132" "-1" "c.-132-1G>A" "r.spl" "p.?" "" "0000712098" "00003426" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256*)" "" "0000724794" "00003426" "10" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Val152Ala)" "" "0000724795" "00003426" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Asn115=)" "" "0000765949" "00003426" "70" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Asn150Lys)" "" "0000765950" "00003426" "70" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Gly168Arg)" "" "0000795088" "00003426" "50" "1149" "0" "1149" "0" "c.1149G>H" "r.(?)" "p.(Met383Ile)" "" "0000806423" "00003426" "50" "1001" "0" "1001" "0" "c.1001C>A" "r.(?)" "p.(Ala334Asp)" "" "0000806424" "00003426" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000806425" "00003426" "30" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Leu26=)" "" "0000812694" "00003426" "70" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(His207Asp)" "" "0000847412" "00003426" "70" "-419" "-2411095" "1523" "658410" "c.-2411514_*658706del" "r.0?" "p.0?" "" "0000863577" "00003426" "50" "1001" "0" "1001" "0" "c.1001C>A" "r.(?)" "p.(Ala334Asp)" "" "0000863578" "00003426" "50" "722" "0" "722" "0" "c.722T>A" "r.(?)" "p.(Leu241His)" "" "0000891810" "00003426" "30" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000891811" "00003426" "30" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Val10=)" "" "0000914198" "00003426" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Asn115=)" "" "0000925886" "00003426" "50" "857" "0" "857" "0" "c.857G>C" "r.(?)" "p.(Arg286Pro)" "" "0000954778" "00003426" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(His251Tyr)" "" "0000957501" "00003426" "50" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(His251Tyr)" "4" "0000957503" "00003426" "50" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(His251Tyr)" "4" "0000967498" "00003426" "30" "673" "0" "673" "0" "c.673A>G" "r.(?)" "p.(Thr225Ala)" "" "0000980931" "00003426" "50" "-115" "0" "-115" "0" "c.-115C>T" "r.(?)" "p.(=)" "" "0001040001" "00003426" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309Gln)" "" "0001040002" "00003426" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0001040003" "00003426" "30" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(His121Arg)" "" "0001040004" "00003426" "50" "-347" "0" "-347" "0" "c.-347A>T" "r.(?)" "p.(=)" "" "0001054838" "00003426" "10" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "" "0001054839" "00003426" "50" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ala220Val)" "" "0001054840" "00003426" "50" "-110" "0" "-110" "0" "c.-110C>G" "r.(?)" "p.(=)" "" "0001054841" "00003426" "50" "-132" "-1" "-132" "-1" "c.-132-1G>A" "r.spl?" "p.?" "" "0001059818" "00003426" "90" "521" "0" "521" "0" "c.521dupG" "r.(?)" "p.(Phe175LeufsTer8)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000090587" "0000148716" "0000090588" "0000148717" "0000090589" "0000148718" "0000090590" "0000148719" "0000090591" "0000148720" "0000090592" "0000148721" "0000090593" "0000148722" "0000090594" "0000148723" "0000090595" "0000148724" "0000090596" "0000148725" "0000090597" "0000148726" "0000090598" "0000148727" "0000090599" "0000148728" "0000104508" "0000169249" "0000156616" "0000359657" "0000166097" "0000370529" "0000166098" "0000370530" "0000166099" "0000370531" "0000166101" "0000370532" "0000166109" "0000370542" "0000166110" "0000370543" "0000166111" "0000370544" "0000166112" "0000370545" "0000166113" "0000370546" "0000166114" "0000370547" "0000166115" "0000370548" "0000166116" "0000370549" "0000166117" "0000370550" "0000166118" "0000370551" "0000166119" "0000370552" "0000166120" "0000370553" "0000206397" "0000435948" "0000219486" "0000454355" "0000219486" "0000454356" "0000328159" "0000712083" "0000328160" "0000712084" "0000328174" "0000712098" "0000364999" "0000765949" "0000365000" "0000765950" "0000381605" "0000795088" "0000385603" "0000812694" "0000410150" "0000847412" "0000446435" "0000954778" "0000448121" "0000957501" "0000448123" "0000957503" "0000471601" "0001059818"