### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMP15) # 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}}" "BMP15" "bone morphogenetic protein 15" "X" "p11.2" "unknown" "NG_012894.1" "UD_132085323148" "" "https://www.LOVD.nl/BMP15" "" "1" "1068" "9210" "300247" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/BMP15_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-05-15 16:52:10" "00000" "2021-02-08 18:36:18" ## 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}}" "00001255" "BMP15" "bone morphogenetic protein 15" "001" "NM_005448.2" "" "NP_005439.2" "" "" "" "-49" "1213" "1179" "50653735" "50659641" "00000" "2012-09-13 13:21:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "02163" "ODG-2" "dysgenesis, ovarian, type 2 (ODG-2, ovarian failure, premature type 4 (POF-4))" "" "300510" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BMP15" "02163" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00104566" "" "" "" "1" "" "01836" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "28585349-FamPat1" "00172619" "" "" "" "1" "" "02036" "" "" "F" "" "Russian Federation" "" "0" "" "" "" "" "00172620" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172621" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172622" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172623" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172624" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172625" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00177015" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "47651" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00104566" "00139" "00172619" "00198" "00172620" "00187" "00172621" "00187" "00172622" "00187" "00172623" "00187" "00172624" "00187" "00172625" "00187" "00177015" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344, 01157, 02163 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000082483" "00139" "00104566" "01836" "Isolated (sporadic)" "" "born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000137483" "00198" "00172619" "02036" "Unknown" "" "patients with a normal ovarian response to stimulation" "" "" "" "" "" "" "" "" "" "" "poor ovarian response" "" "0000137484" "00187" "00172620" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137485" "00187" "00172621" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137486" "00187" "00172622" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137487" "00187" "00172623" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137488" "00187" "00172624" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137489" "00187" "00172625" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000141832" "00344" "00177015" "02552" "Familial, autosomal recessive" "" "HP:0000666\r\nHP:0002451\r\nHP:0001285" "00y08m" "" "" "" "" "" "" "" "" "Epilepsy, hearing loss, and mental retardation syndrome (MIM 616577)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000105038" "00104566" "1" "01836" "01836" "2017-05-15 12:24:57" "00006" "2019-03-01 10:54:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000173502" "00172619" "1" "02036" "02036" "2015-08-01 09:14:59" "" "" "SEQ" "DNA" "" "" "0000173503" "00172620" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173504" "00172621" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173505" "00172622" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173506" "00172623" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173507" "00172624" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173508" "00172625" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000177907" "00177015" "1" "02552" "02552" "2018-08-16 12:02:03" "" "" "SEQ-NG-I" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000105038" "BMP15" "0000105038" "CSNK2B" "0000105038" "GPR144" "0000105038" "HEPH" "0000105038" "PLXNA3" "0000173503" "BMP15" "0000173504" "BMP15" "0000173505" "BMP15" "0000173506" "MAGEC1" "0000173507" "MAGEC1" "0000173508" "MAGEC1" ## 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 = 27 "{{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}}" "0000006882" "20" "50" "X" "50653775" "50653775" "subst" "0.162003" "00037" "BMP15_000007" "g.50653775C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50910775C>G" "" "VUS" "" "0000008951" "20" "50" "X" "50653775" "50653775" "subst" "0.162003" "00037" "BMP15_000007" "g.50653775C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50910775C>G" "" "VUS" "" "0000170288" "21" "50" "X" "50653985" "50653985" "subst" "0.000709276" "01836" "BMP15_000001" "g.50653985C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.50910985C>T" "" "VUS" "" "0000263727" "0" "70" "X" "50659038" "50659038" "subst" "0" "01943" "BMP15_000010" "g.50659038C>T" "" "" "" "BMP15(NM_005448.2):c.610C>T (p.R204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50916038C>T" "" "likely pathogenic" "" "0000334176" "0" "50" "X" "50653913" "50653913" "subst" "0" "01804" "BMP15_000008" "g.50653913C>G" "" "" "" "BMP15(NM_005448.2):c.130C>G (p.(Leu44Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50910913C>G" "" "VUS" "" "0000334177" "0" "50" "X" "50653985" "50653985" "subst" "0.000709276" "01804" "BMP15_000001" "g.50653985C>T" "" "" "" "BMP15(NM_005448.2):c.202C>T (p.R68W, p.(Arg68Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50910985C>T" "" "VUS" "" "0000334178" "0" "30" "X" "50658871" "50658871" "subst" "0.00307312" "01804" "BMP15_000009" "g.50658871T>C" "" "" "" "BMP15(NM_005448.2):c.443T>C (p.(Leu148Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50915871T>C" "" "likely benign" "" "0000393359" "0" "30" "X" "50659035" "50659035" "subst" "0.0000167911" "02036" "BMP15_000011" "g.50659035C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50916035C>T" "" "likely benign" "" "0000393360" "1" "50" "X" "50659214" "50659216" "dup" "0" "00124" "BMP15_000015" "g.50659214_50659216insTCT" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "c.788_789insTCT" "found once, nonrecurrent change\r\nVariant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000393361" "1" "50" "X" "50653985" "50653985" "subst" "0.000709276" "00124" "BMP15_000001" "g.50653985C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50910985C>T" "" "VUS" "" "0000393362" "1" "50" "X" "50658841" "50658841" "subst" "0.0000393011" "00124" "BMP15_000013" "g.50658841G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50915841G>A" "" "VUS" "" "0000393363" "1" "50" "X" "50658948" "50658948" "subst" "0.0000840581" "00124" "BMP15_000014" "g.50658948C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50915948C>T" "" "VUS" "" "0000393364" "1" "50" "X" "50658966" "50658966" "subst" "0.0102207" "00124" "BMP15_000012" "g.50658966G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50915966G>A" "" "VUS" "" "0000393365" "1" "50" "X" "50659280" "50659280" "subst" "0.0565989" "00124" "BMP15_000016" "g.50659280C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S284S" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.50916280C>T" "" "VUS" "" "0000406001" "21" "10" "X" "50658966" "50658966" "subst" "0.0102207" "02552" "BMP15_000012" "g.50658966G>A" "" "Papuc et al., submitted" "" "" "" "Germline" "" "rs104894767" "0" "" "" "g.50915966G>A" "" "benign" "" "0000576500" "0" "30" "X" "50653817" "50653817" "subst" "0" "01943" "BMP15_000017" "g.50653817C>T" "" "" "" "BMP15(NM_005448.2):c.34C>T (p.L12F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50910817C>T" "" "likely benign" "" "0000576501" "0" "30" "X" "50653945" "50653945" "subst" "0.000140109" "01943" "BMP15_000018" "g.50653945C>T" "" "" "" "BMP15(NM_005448.2):c.162C>T (p.G54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50910945C>T" "" "likely benign" "" "0000576502" "0" "30" "X" "50653985" "50653985" "subst" "0.000709276" "01943" "BMP15_000001" "g.50653985C>T" "" "" "" "BMP15(NM_005448.2):c.202C>T (p.R68W, p.(Arg68Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50910985C>T" "" "likely benign" "" "0000576504" "0" "10" "X" "50658966" "50658966" "subst" "0.0102207" "02325" "BMP15_000012" "g.50658966G>A" "" "" "" "BMP15(NM_005448.2):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50915966G>A" "" "benign" "" "0000576506" "0" "30" "X" "50659009" "50659009" "subst" "0.00209925" "02326" "BMP15_000019" "g.50659009T>C" "" "" "" "BMP15(NM_005448.2):c.581T>C (p.F194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50916009T>C" "" "likely benign" "" "0000576507" "0" "30" "X" "50659045" "50659045" "subst" "0.0000615646" "01943" "BMP15_000020" "g.50659045G>A" "" "" "" "BMP15(NM_005448.2):c.617G>A (p.R206H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50916045G>A" "" "likely benign" "" "0000619679" "0" "30" "X" "50659009" "50659009" "subst" "0.00209925" "01943" "BMP15_000019" "g.50659009T>C" "" "" "" "BMP15(NM_005448.2):c.581T>C (p.F194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50916009T>C" "" "likely benign" "" "0000624655" "0" "30" "X" "50659415" "50659415" "subst" "0.0000395699" "01943" "BMP15_000021" "g.50659415C>T" "" "" "" "BMP15(NM_005448.2):c.987C>T (p.R329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50916415C>T" "" "likely benign" "" "0000682498" "0" "30" "X" "50659219" "50659219" "subst" "0.0000113312" "01943" "BMP15_000022" "g.50659219G>A" "" "" "" "BMP15(NM_005448.2):c.791G>A (p.R264Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729011" "0" "50" "X" "50658966" "50658966" "subst" "0.000235344" "01943" "BMP15_000023" "g.50658966G>T" "" "" "" "BMP15(NM_005448.2):c.538G>T (p.A180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729012" "0" "50" "X" "50658967" "50658967" "subst" "0.000235282" "01943" "BMP15_000024" "g.50658967C>T" "" "" "" "BMP15(NM_005448.2):c.539C>T (p.A180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729013" "0" "30" "X" "50659430" "50659430" "subst" "0" "01943" "BMP15_000025" "g.50659430C>A" "" "" "" "BMP15(NM_005448.2):c.1002C>A (p.S334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BMP15 ## Count = 27 "{{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}}" "0000006882" "00001255" "50" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "" "0000008951" "00001255" "50" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "" "0000170288" "00001255" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000263727" "00001255" "70" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Ter)" "" "0000334176" "00001255" "50" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Leu44Val)" "" "0000334177" "00001255" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000334178" "00001255" "30" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Leu148Pro)" "" "0000393359" "00001255" "30" "607" "0" "607" "0" "c.607C>T" "r.(=)" "p.(=)" "" "0000393360" "00001255" "50" "786" "0" "788" "0" "c.786_788insTCT" "" "" "" "0000393361" "00001255" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000393362" "00001255" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "" "0000393363" "00001255" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Pro174Ser)" "" "0000393364" "00001255" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000393365" "00001255" "50" "852" "0" "852" "0" "c.852C>T" "r.(=)" "p.(=)" "" "0000406001" "00001255" "10" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000576500" "00001255" "30" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Leu12Phe)" "" "0000576501" "00001255" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Gly54=)" "" "0000576502" "00001255" "30" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000576504" "00001255" "10" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000576506" "00001255" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Phe194Ser)" "" "0000576507" "00001255" "30" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000619679" "00001255" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Phe194Ser)" "" "0000624655" "00001255" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Arg329=)" "" "0000682498" "00001255" "30" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264Gln)" "" "0000729011" "00001255" "50" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Ala180Ser)" "" "0000729012" "00001255" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Ala180Val)" "" "0000729013" "00001255" "30" "1002" "0" "1002" "0" "c.1002C>A" "r.(?)" "p.(Ser334=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006882" "0000000210" "0000008951" "0000105038" "0000170288" "0000173502" "0000393359" "0000173503" "0000393360" "0000173504" "0000393361" "0000173505" "0000393362" "0000173506" "0000393363" "0000173507" "0000393364" "0000173508" "0000393365" "0000177907" "0000406001"