### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MSTN) # 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}}" "MSTN" "myostatin" "2" "q32.1" "unknown" "LRG_200" "UD_132119003981" "" "https://www.LOVD.nl/MSTN" "" "1" "4223" "2660" "601788" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
\r\nThis database has been established with the help of the Bas Smal and Jara Skokan, students of the Hogeschool Leiden." "" "g" "https://databases.lovd.nl/shared/refseq/MSTN_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2008-08-09 00:00:00" "00006" "2019-12-30 12:48:58" "00000" "2024-02-26 20:06:56" ## 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}}" "00013975" "MSTN" "myostatin" "001" "NM_005259.2" "" "NP_005250.1" "" "" "" "-133" "2686" "1128" "190927455" "190920426" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03565" "MSLHP" "hypertrophy, muscle (MSLHP)" "" "614160" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-12-27 11:20:31" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MSTN" "03565" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{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}}" "00210084" "" "" "" "6" "" "00006" "{PMID:Schuelke 2004:15215484}" "mother of 15215484.IV2, 5 unusually strong relatives 4-generation family" "F" "" "Germany" ">24y" "0" "" "" "" "15215484.III5" "00210085" "" "" "" "1" "" "00006" "{PMID:Schuelke 2004:15215484}" "son of 15215484.III3" "M" "" "Germany" ">4y6m" "0" "" "" "" "15215484.IV2" "00210086" "" "" "" "1" "" "00006" "{PMID:Schuelke 2004:15215484}" "" "" "" "Germany" "" "0" "" "" "" "" "00210087" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" ">14y" "0" "" "" "" "17428346.549" "00210088" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "17428346.712" "00210089" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "" "00210090" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "" "00210091" "" "" "" "12" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "white" "" "00210092" "" "" "" "7" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "white" "" "00210093" "" "" "" "2" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210094" "" "" "" "3" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210095" "" "" "" "19" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210096" "" "" "" "24" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210097" "" "" "" "1" "" "00006" "{PMID:Thomis 2004:15083369}" "" "" "" "Belgium" "" "0" "" "" "" "" "00210098" "" "" "" "1" "" "00006" "{PMID:Thomis 2004:15083369}" "" "" "" "Belgium" "" "0" "" "" "" "" "00210099" "" "" "" "2" "" "00006" "{PMID:Corsi 2002:12165013}" "" "" "" "Italy" "" "0" "" "" "" "" "00210100" "" "" "" "6" "" "00006" "{PMID:Corsi 2002:12165013}" "" "" "" "Italy" "" "0" "" "" "" "" "00210101" "" "" "" "1" "" "00006" "{PMID:Corsi 2002:12165013}" "" "" "" "Italy" "" "0" "" "" "" "" "00210102" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "" "00210103" "" "" "" "1" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "17428346.100" "00210104" "" "" "" "8" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210105" "" "" "" "3" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210106" "" "" "" "3" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210107" "" "" "" "1" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210108" "" "" "" "2" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210109" "" "" "" "22" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210110" "" "" "" "4" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "white" "" "00210111" "" "" "" "58" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210112" "" "" "" "29" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "white" "" "00210113" "" "" "" "1" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "white" "" "00210114" "" "" "" "2" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210115" "" "" "" "1" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "white" "" "00210116" "" "" "" "10" "" "00006" "{PMID:Saunders 2006:17186467}" "" "" "" "United States" "" "0" "" "" "African American" "" "00210117" "" "" "" "1" "" "00006" "{PMID:Clop 2006:16751773}" "Texel sheep, Belgian strain" "" "" "" "" "0" "" "" "" "" "00210118" "" "" "" "1" "" "00006" "{PMID:McPherron 1997:9139826}" "mouse KO" "" "" "" "" "0" "" "" "" "" "00210119" "" "" "" "1" "" "00006" "{PMID:Grobet 1997:9288100}" "bovine, Belgian blue (BBCB)" "" "" "" "" "0" "" "" "" "" "00210120" "" "" "" "1" "" "00006" "{PMID:Marchitelli 2003:12879361}" "bovine (Marchigiana breed, Italy)" "" "" "" "" "0" "" "" "" "" "00210121" "" "" "" "1" "" "00006" "{PMID:Mosher 2007:17530926}" "dog (whippet breed)" "" "" "" "" "0" "" "" "" "" "00210122" "" "" "" "1" "" "00006" "{PMID:Mosher 2007:17530926}" "dog (whippet breed)" "" "" "" "" "0" "" "" "" "" "00210123" "" "" "" "1" "" "00006" "{PMID:Szabo 1998:9680391}" "mouse strain Cmpt" "" "" "" "" "0" "" "" "" "" "00210124" "" "" "" "2" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "" "" "00210125" "" "" "" "1" "" "00006" "{PMID:Thomis 2004:15083369}" "" "" "" "Belgium" "" "0" "" "" "" "" "00210126" "" "" "" "1" "" "00006" "{PMID:Corsi 2002:12165013}" "" "" "" "Italy" "" "0" "" "" "" "" "00210127" "" "" "" "1" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "" "" "00210128" "" "" "" "1" "" "00006" "{PMID:Thomis 2004:15083369}" "" "" "" "Belgium" "" "0" "" "" "" "" "00210129" "" "" "" "2" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "" "" "00210130" "" "" "" "1" "" "00006" "{PMID:Ferrell 1999:10610713}" "" "" "" "United States" "" "0" "" "" "" "" "00210131" "" "" "" "1" "" "00006" "{PMID:Ivy:11078093}" "" "" "" "" "" "0" "" "" "" "" "00210132" "" "" "" "4" "" "00006" "{PMID:Nishiyama 2007:17428346}" "" "M" "" "Japan" "" "0" "" "" "" "" "00210133" "" "" "" "4" "" "00006" "{PMID:Gonzalez-Freire 2009:19232494}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00292520" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292521" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292522" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00210084" "03565" "00210085" "03565" "00210086" "00000" "00210087" "05121" "00210088" "05121" "00210089" "05121" "00210090" "05121" "00210091" "00000" "00210092" "00000" "00210093" "00000" "00210094" "00000" "00210095" "00000" "00210096" "00000" "00210097" "00000" "00210098" "00000" "00210099" "00000" "00210100" "00000" "00210101" "00000" "00210102" "05121" "00210103" "05121" "00210104" "00000" "00210105" "00000" "00210106" "00000" "00210107" "00000" "00210108" "00000" "00210109" "00000" "00210110" "00000" "00210111" "00000" "00210112" "00000" "00210113" "00000" "00210114" "00000" "00210115" "00000" "00210116" "00000" "00210117" "03565" "00210118" "03565" "00210119" "03565" "00210120" "03565" "00210121" "03565" "00210122" "03565" "00210123" "03565" "00210124" "00000" "00210125" "00000" "00210126" "00000" "00210127" "00000" "00210128" "00000" "00210129" "00000" "00210130" "00000" "00210131" "00000" "00210132" "05121" "00210133" "00000" "00292520" "00198" "00292521" "00198" "00292522" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03565, 05121 ## Count = 50 "{{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}}" "0000158658" "03565" "00210084" "00006" "Familial" "" "unusual strength, normal heart" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158659" "03565" "00210085" "00006" "Familial" "" "stimulus-induced myoclonus hours after birth, extraordinarily muscular, normal heart" "0y" "" "" "MSTN absent serum" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158660" "00000" "00210086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158661" "05121" "00210087" "00006" "Unknown" "" "wheelchair bound 7y" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158662" "05121" "00210088" "00006" "Unknown" "" "wheelchair bound >8y" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158663" "05121" "00210089" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158664" "05121" "00210090" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158665" "00000" "00210091" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158666" "00000" "00210092" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158667" "00000" "00210093" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158668" "00000" "00210094" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158669" "00000" "00210095" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158670" "00000" "00210096" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158671" "00000" "00210097" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158672" "00000" "00210098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158673" "00000" "00210099" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158674" "00000" "00210100" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158675" "00000" "00210101" "00006" "Unknown" "" "no relation with response to muscle training" "" "" "" "" "" "" "" "" "" "" "" "0000158676" "05121" "00210102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158677" "05121" "00210103" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158678" "00000" "00210104" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158679" "00000" "00210105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158680" "00000" "00210106" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158681" "00000" "00210107" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158682" "00000" "00210108" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158683" "00000" "00210109" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158684" "00000" "00210110" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158685" "00000" "00210111" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158686" "00000" "00210112" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158687" "00000" "00210113" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158688" "00000" "00210114" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158689" "00000" "00210115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158690" "00000" "00210116" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158691" "03565" "00210117" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158692" "03565" "00210118" "00006" "Unknown" "" "significantly larger, large widespread increase skeletal muscle mass (muscle cell hyperplasia and hypertrophy)" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158693" "03565" "00210119" "00006" "Unknown" "" "double muscled, 20% increased muscle mass (skeletal muscle hyperplasia)" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158694" "03565" "00210120" "00006" "Unknown" "" "double muscled" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158695" "03565" "00210121" "00006" "Unknown" "" "double muscled" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158696" "03565" "00210122" "00006" "Unknown" "" "more muscle, significantly faster" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158697" "03565" "00210123" "00006" "Unknown" "" "high carcass protein content" "" "" "" "" "" "" "" "" "MSLHP" "muscle hypertrophy" "" "0000158698" "00000" "00210124" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158699" "00000" "00210125" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158700" "00000" "00210126" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158701" "00000" "00210127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158702" "00000" "00210128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158703" "00000" "00210129" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158704" "00000" "00210130" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158705" "00000" "00210131" "00006" "Unknown" "" "hypertrophic muscle response due to strength training" "" "" "" "" "" "" "" "" "" "" "" "0000158706" "05121" "00210132" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSLHP" "Duchenne muscular dystrophy" "" "0000158707" "00000" "00210133" "00006" "Unknown" "" "McArdle\'s disease; increased severity compared to non-carriers" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211160" "00210084" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" "" "0000211161" "00210085" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2012-03-09 19:03:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211162" "00210086" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211163" "00210087" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211164" "00210088" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211165" "00210089" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211166" "00210090" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211167" "00210091" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211168" "00210092" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211169" "00210093" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211170" "00210094" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211171" "00210095" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211172" "00210096" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211173" "00210097" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211174" "00210098" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211175" "00210099" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211176" "00210100" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211177" "00210101" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211178" "00210102" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211179" "00210103" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211180" "00210104" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211181" "00210105" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211182" "00210106" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211183" "00210107" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211184" "00210108" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211185" "00210109" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211186" "00210110" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211187" "00210111" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211188" "00210112" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211189" "00210113" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211190" "00210114" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211191" "00210115" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211192" "00210116" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211193" "00210117" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211194" "00210118" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "Southern" "DNA" "" "" "0000211195" "00210119" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211196" "00210120" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211197" "00210121" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211198" "00210122" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211199" "00210123" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211200" "00210124" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig;SEQ" "DNA" "" "" "0000211201" "00210125" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211202" "00210126" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211203" "00210127" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig;SEQ" "DNA" "" "" "0000211204" "00210128" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000211205" "00210129" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211206" "00210130" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211207" "00210131" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211208" "00210132" "1" "00006" "00006" "2008-12-14 17:00:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211209" "00210133" "1" "00006" "00006" "2009-03-20 12:24:00" "00006" "2013-02-01 19:44:12" "PCR;SBE" "DNA" "" "" "0000293688" "00292520" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293689" "00292521" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293690" "00292522" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{geneid}}" "0000211160" "MSTN" "0000211161" "MSTN" "0000211162" "MSTN" "0000211163" "MSTN" "0000211164" "MSTN" "0000211165" "MSTN" "0000211166" "MSTN" "0000211167" "MSTN" "0000211168" "MSTN" "0000211169" "MSTN" "0000211170" "MSTN" "0000211171" "MSTN" "0000211172" "MSTN" "0000211173" "MSTN" "0000211174" "MSTN" "0000211175" "MSTN" "0000211176" "MSTN" "0000211177" "MSTN" "0000211178" "MSTN" "0000211179" "MSTN" "0000211180" "MSTN" "0000211181" "MSTN" "0000211182" "MSTN" "0000211183" "MSTN" "0000211184" "MSTN" "0000211185" "MSTN" "0000211186" "MSTN" "0000211187" "MSTN" "0000211188" "MSTN" "0000211189" "MSTN" "0000211190" "MSTN" "0000211191" "MSTN" "0000211192" "MSTN" "0000211193" "MSTN" "0000211194" "MSTN" "0000211195" "MSTN" "0000211196" "MSTN" "0000211197" "MSTN" "0000211198" "MSTN" "0000211199" "MSTN" "0000211200" "MSTN" "0000211201" "MSTN" "0000211202" "MSTN" "0000211203" "MSTN" "0000211204" "MSTN" "0000211205" "MSTN" "0000211206" "MSTN" "0000211207" "MSTN" "0000211208" "MSTN" "0000211209" "MSTN" ## 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 = 73 "{{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}}" "0000342024" "0" "30" "2" "190925053" "190925053" "subst" "1.22135E-5" "02327" "MSTN_000020" "g.190925053C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190060327C>A" "" "likely benign" "" "0000442600" "10" "70" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{OMIM601788:0001}, {PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "" "Germline" "" "" "0" "" "" "g.190062219C>T" "" "likely pathogenic" "" "0000442601" "21" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{OMIM601788:0001}, {PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "RNA analysis after gene cloning in COS-7 cells (70%); no MSTN in EBV-lymphoblastoid cells" "Germline" "" "" "0" "" "" "g.190062219C>T" "" "pathogenic" "" "0000442602" "10" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{OMIM601788:0001}, {PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "RNA analysis after gene cloning in COS-7 cells (70%); no MSTN in EBV-lymphoblastoid cells" "Germline" "" "" "0" "" "" "g.190062219C>T" "" "pathogenic" "" "0000442603" "0" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "0/200" "{PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "control chromosomes" "Germline" "" "" "0" "" "" "g.190062219C>T" "" "pathogenic" "" "0000442604" "1" "10" "2" "190925045" "190925045" "subst" "0.0030833" "00006" "MSTN_000003" "g.190925045C>T" "" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190060319C>T" "" "benign" "" "0000442605" "1" "70" "2" "190925069" "190925069" "subst" "2.03706E-5" "00006" "MSTN_000004" "g.190925069G>T" "" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190060343G>T" "" "likely pathogenic" "" "0000442606" "0" "70" "2" "190927040" "190927040" "subst" "0" "00006" "MSTN_000008" "g.190927040C>G" "" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190062314C>G" "" "likely pathogenic" "" "0000442607" "0" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "0/204" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442608" "0" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "0/204" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442609" "0" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "12/334" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442610" "0" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "7/190" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442611" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "2/192" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442612" "2" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "2/192" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442613" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "3/186" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442614" "2" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "3/186" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442615" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "19/192" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442616" "1" "70" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "24/186" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "likely pathogenic" "" "0000442617" "0" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "0/114" "{PMID:Thomis 2004:15083369}" "AluI" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442618" "0" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "1/114" "{PMID:Thomis 2004:15083369}" "BanII+" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442619" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "2/900" "{PMID:Corsi 2002:12165013}" "AluI" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442620" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "6/240" "{PMID:Corsi 2002:12165013}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442621" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "1/240" "{PMID:Corsi 2002:12165013}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442622" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "1/240" "{PMID:Corsi 2002:12165013}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442623" "0" "70" "2" "190924780" "190924780" "subst" "0.000481751" "00006" "MSTN_000018" "g.190924780T>C" "0/204" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190060054T>C" "" "likely pathogenic" "" "0000442624" "1" "50" "2" "190920849" "190920850" "del" "0" "00006" "MSTN_000005" "g.190920849_190920850del" "1/204" "{PMID:Nishiyama 2007:17428346}" "" "c.2264-2265delAT" "" "Germline" "" "" "0" "" "" "g.190056123_190056124del" "" "VUS" "" "0000442625" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "8/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442626" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "3/152" "{PMID:Saunders 2006:17186467}" "" "2246A>G" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442627" "1" "10" "2" "190927017" "190927017" "subst" "0.00121313" "00006" "MSTN_000009" "g.190927017G>A" "3/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190062291G>A" "" "benign" "" "0000442628" "1" "10" "2" "190925149" "190925149" "subst" "0.00107648" "00006" "MSTN_000012" "g.190925149A>C" "3/152" "{PMID:Saunders 2006:17186467}" "" "2174T>G" "" "Germline" "" "" "0" "" "" "g.190060423A>C" "" "benign" "" "0000442629" "1" "10" "2" "190927143" "190927143" "subst" "0.00305723" "00006" "MSTN_000006" "g.190927143G>A" "3/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190062417G>A" "" "benign" "" "0000442630" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "1/152" "{PMID:Saunders 2006:17186467}" "" "2246A>G" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442631" "1" "10" "2" "190927016" "190927016" "subst" "2.03552E-5" "00006" "MSTN_000010" "g.190927016C>T" "1/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190062290C>T" "" "benign" "" "0000442632" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "2/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442633" "1" "10" "2" "190927129" "190927129" "subst" "0.000402596" "00006" "MSTN_000007" "g.190927129C>T" "2/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190062403C>T" "" "benign" "" "0000442634" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "22/152" "{PMID:Saunders 2006:17186467}" "" "2246A>G" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442635" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "4/140" "{PMID:Saunders 2006:17186467}" "" "2246A>G" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442636" "1" "10" "2" "190926862" "190926862" "del" "0" "00006" "MSTN_000014" "g.190926862del" "58/152" "{PMID:Saunders 2006:17186467}" "" "c.373+90delA" "" "Germline" "" "" "0" "" "" "g.190062136del" "" "benign" "" "0000442637" "1" "10" "2" "190926862" "190926862" "del" "0" "00006" "MSTN_000014" "g.190926862del" "29/140" "{PMID:Saunders 2006:17186467}" "" "c.373+90delA" "" "Germline" "" "" "0" "" "" "g.190062136del" "" "benign" "" "0000442638" "0" "10" "2" "190922050" "190922050" "subst" "2.442E-5" "00006" "MSTN_000000" "g.190922050A>G" "1/140" "{PMID:Saunders 2006:17186467}" "" "5273T>C (354N)" "" "Germline" "" "" "0" "" "" "g.190057324A>G" "" "benign" "" "0000442639" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "1/140" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442640" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "2/152" "{PMID:Saunders 2006:17186467}" "" "2246A>G" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442641" "1" "10" "2" "190927657" "190927657" "subst" "0" "00006" "MSTN_000011" "g.190927657C>T" "2/152" "{PMID:Saunders 2006:17186467}" "" "-335G>A" "" "Germline" "" "" "0" "" "" "g.190062931C>T" "" "benign" "" "0000442642" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "1/140" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442643" "1" "10" "2" "190928084" "190928084" "subst" "0" "00006" "MSTN_000019" "g.190928084T>C" "1/140" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190063358T>C" "" "benign" "" "0000442644" "1" "10" "2" "190927160" "190927160" "subst" "0.00940689" "00006" "MSTN_000001" "g.190927160C>T" "10/153" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "rs1805085" "0" "" "" "g.190062434C>T" "" "benign" "" "0000442645" "1" "10" "2" "190928084" "190928084" "subst" "0" "00006" "MSTN_000019" "g.190928084T>C" "10/152" "{PMID:Saunders 2006:17186467}" "" "" "" "Germline" "" "" "0" "" "" "g.190063358T>C" "" "benign" "" "0000442646" "3" "90" "2" "190920710" "190920710" "subst" "0" "00006" "MSTN_000000" "g.190920710C>T" "" "{PMID:Clop 2006:16751773}" "" "2402G>A" "found in sheep: creates mir1/mir206 octamer target, reduced translation" "animal model" "" "" "0" "" "" "g.190055984C>T" "" "pathogenic" "" "0000442647" "3" "90" "2" "190921983" "190922365" "del" "0" "00006" "MSTN_000000" "g.(?_190921983)_(190922365_190924787)delins[?]" "" "{PMID:McPherron 1997:09139826}" "" "" "mouse KO by NEO insertion" "animal model" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000442648" "3" "90" "2" "190922284" "190922294" "del" "0" "00006" "MSTN_000000" "g.190922284_190922294del" "" "{PMID:Grobet 1997:09288100}" "" "" "bovine variant\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "animal model" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000442649" "3" "90" "2" "190922241" "190922241" "subst" "0" "00006" "MSTN_000000" "g.190922241C>A" "" "{PMID:Marchitelli 2003:12879361}" "MseI+" "" "bovine variant" "animal model" "" "" "0" "" "" "g.190057515C>A" "" "pathogenic" "" "0000442650" "3" "90" "2" "190922175" "190922176" "del" "0" "00006" "MSTN_000000" "g.190922175_190922176del" "" "{PMID:Mosher 2007:17530926}" "" "" "found in dog" "animal model" "" "" "0" "" "" "g.190057449_190057450del" "" "pathogenic" "" "0000442651" "1" "90" "2" "190922175" "190922176" "del" "0" "00006" "MSTN_000000" "g.190922175_190922176del" "" "{PMID:Mosher 2007:17530926}" "" "" "found in dog" "animal model" "" "" "0" "" "" "g.190057449_190057450del" "" "pathogenic" "" "0000442652" "3" "90" "2" "190924855" "190924866" "del" "0" "00006" "MSTN_000000" "g.190924855_190924866del" "" "{PMID:Szabo 1998:09680391}" "" "" "mouse KO by NEO insertion\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "animal model" "" "" "0" "" "" "" "" "pathogenic" "" "0000442653" "1" "10" "2" "190925045" "190925045" "subst" "0.0030833" "00006" "MSTN_000003" "g.190925045C>T" "2/?" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060319C>T" "" "benign" "" "0000442654" "1" "10" "2" "190925045" "190925045" "subst" "0.0030833" "00006" "MSTN_000003" "g.190925045C>T" "0/114" "{PMID:Thomis 2004:15083369}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.190060319C>T" "" "benign" "" "0000442655" "0" "50" "2" "190924981" "190924981" "subst" "0" "00006" "MSTN_000015" "g.190924981C>G" "1/80" "{PMID:Corsi 2002:12165013}" "" "" "" "Germline" "" "" "0" "" "" "g.190060255C>G" "" "VUS" "" "0000442656" "0" "10" "2" "190924943" "190924943" "subst" "8.13544E-6" "00006" "MSTN_000016" "g.190924943G>C" "1/80" "{PMID:Ferrell 1999:10610713}" "BstNI" "" "" "Germline" "" "" "0" "" "" "g.190060217G>C" "" "benign" "" "0000442657" "0" "10" "2" "190924943" "190924943" "subst" "8.13544E-6" "00006" "MSTN_000016" "g.190924943G>C" "0/114" "{PMID:Thomis 2004:15083369}" "BstNI" "" "" "Germline" "" "" "0" "" "" "g.190060217G>C" "" "benign" "" "0000442658" "0" "10" "2" "190924861" "190924861" "subst" "0.00263016" "00006" "MSTN_000017" "g.190924861A>G" "2/?" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060135A>G" "" "benign" "" "0000442659" "0" "10" "2" "190924780" "190924780" "subst" "0.000481751" "00006" "MSTN_000018" "g.190924780T>C" "1/80" "{PMID:Ferrell 1999:10610713}" "" "" "" "Germline" "" "" "0" "" "" "g.190060054T>C" "" "benign" "" "0000442660" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "" "{PMID:Ivy:11078093}" "" "" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "benign" "" "0000442661" "0" "50" "2" "190925045" "190925045" "subst" "0.0030833" "00006" "MSTN_000003" "g.190925045C>T" "4/204" "{PMID:Nishiyama 2007:17428346}" "" "" "" "Germline" "" "" "0" "" "" "g.190060319C>T" "" "VUS" "" "0000442662" "1" "70" "2" "190925077" "190925077" "subst" "0.0273224" "00006" "MSTN_000002" "g.190925077T>C" "" "{PMID:Gonzalez-Freire 2009:19232494}" "" "K153R" "" "Germline" "" "" "0" "" "" "g.190060351T>C" "" "likely pathogenic" "" "0000442663" "0" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "gene cloned and expressed in COS-7 cells, MSTN virtually absent from medium" "In vitro (cloned)" "" "" "0" "" "" "g.190062219C>T" "" "NA" "" "0000442664" "0" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "gene cloned and expressed in CHO cells, MSTN virtually absent from medium" "In vitro (cloned)" "" "" "0" "" "" "g.190062219C>T" "" "NA" "" "0000442665" "0" "90" "2" "190926945" "190926945" "subst" "4.07083E-6" "00006" "MSTN_000013" "g.190926945C>T" "" "{PMID:Schuelke 2004:15215484}" "AccI-" "IVS1+5G>A" "gene cloned and expressed in A204 rhabdomyosarcoma cells, MSTN virtually absent from medium" "In vitro (cloned)" "" "" "0" "" "" "g.190062219C>T" "" "NA" "" "0000513757" "0" "30" "2" "191064716" "191064716" "subst" "0" "01804" "C2orf88_000001" "g.191064716G>T" "" "" "" "C2orf88(NM_001042519.1):c.130G>T (p.(Val44Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190199990G>T" "" "likely benign" "" "0000607351" "0" "30" "2" "190924861" "190924861" "subst" "0.00263016" "01804" "MSTN_000017" "g.190924861A>G" "" "" "" "MSTN(NM_005259.2):c.674T>C (p.(Ile225Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190060135A>G" "" "likely benign" "" "0000650377" "1" "30" "2" "190924861" "190924861" "subst" "0.00263016" "03575" "MSTN_000017" "g.190924861A>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs143242500}" "Germline" "" "rs143242500" "0" "" "" "g.190060135A>G" "" "likely benign" "" "0000650378" "1" "30" "2" "190925069" "190925069" "subst" "2.03706E-5" "03575" "MSTN_000004" "g.190925069G>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35493945}" "Germline" "" "rs35493945" "0" "" "" "g.190060343G>T" "" "likely benign" "" "0000650379" "1" "10" "2" "190925077" "190925077" "subst" "0.0273224" "03575" "MSTN_000002" "g.190925077T>C" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs1805086}" "Germline" "" "rs1805086" "0" "" "" "g.190060351T>C" "" "benign" "" "0000884650" "0" "10" "2" "190925077" "190925077" "subst" "0.0273224" "02326" "MSTN_000002" "g.190925077T>C" "" "" "" "MSTN(NM_005259.2):c.458A>G (p.K153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 MSTN ## Count = 73 "{{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}}" "0000342024" "00013975" "30" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Arg161Ile)" "" "0000442600" "00013975" "70" "373" "5" "373" "5" "c.373+5G>A" "r.(?)" "p.Ser125Cysfs*3" "1i" "0000442601" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.[373_374ins373+1_373+108; 373+5g>a]" "p.Ser125Cysfs*3" "1i" "0000442602" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.[373_374ins373+1_373+108; 373+5g>a]" "p.Ser125Cysfs*3" "1i" "0000442603" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.(?)" "p.Ser125Cysfs*3" "1i" "0000442604" "00013975" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "2" "0000442605" "00013975" "70" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Leu156Ile)" "2" "0000442606" "00013975" "70" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Asp95His)" "1" "0000442607" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442608" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442609" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442610" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442611" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442612" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442613" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442614" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442615" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442616" "00013975" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442617" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442618" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442619" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442620" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442621" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442622" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442623" "00013975" "70" "747" "8" "747" "8" "c.747+8A>G" "r.(?)" "p.(=)" "2i" "0000442624" "00013975" "50" "2264" "0" "2265" "0" "c.*1136_*1137del" "r.(?)" "p.(=)" "3" "0000442625" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442626" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442627" "00013975" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(=)" "1" "0000442628" "00013975" "10" "386" "0" "386" "0" "c.386T>G" "r.(?)" "p.(Met129Arg)" "2" "0000442629" "00013975" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(=)" "1" "0000442630" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442631" "00013975" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Asp103Asn)" "1" "0000442632" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442633" "00013975" "10" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Arg65His)" "1" "0000442634" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442635" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442636" "00013975" "10" "373" "90" "373" "90" "c.373+90del" "r.(=)" "p.(=)" "1i" "0000442637" "00013975" "10" "373" "90" "373" "90" "c.373+90del" "r.(=)" "p.(=)" "1i" "0000442638" "00013975" "10" "1062" "0" "1062" "0" "c.1062T>C" "r.(?)" "p.(=)" "3" "0000442639" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442640" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442641" "00013975" "10" "-335" "0" "-335" "0" "c.-335G>A" "r.(?)" "p.(=)" "1" "0000442642" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442643" "00013975" "10" "-762" "0" "-762" "0" "c.-762A>G" "r.(?)" "p.(=)" "1" "0000442644" "00013975" "10" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" "1" "0000442645" "00013975" "10" "-762" "0" "-762" "0" "c.-762A>G" "r.(?)" "p.(=)" "1" "0000442646" "00013975" "90" "2402" "0" "2402" "0" "c.(*1274G>A)" "r.(*1274g>a)" "p.(0)" "3" "0000442647" "00013975" "90" "748" "-1" "1129" "0" "c.(747+1_748-1)_(*1_?)delins(?)" "r.?" "p.?" "2i" "0000442648" "00013975" "90" "818" "0" "828" "0" "c.(818_828del)" "r.(?)" "p.(Glu274Argfs*14)" "3" "0000442649" "00013975" "90" "871" "0" "871" "0" "c.(871G>T)" "r.(?)" "p.(Glu291*)" "3" "0000442650" "00013975" "90" "939" "0" "940" "0" "c.(939_940del)" "r.(?)" "p.(Cys313*)" "3" "0000442651" "00013975" "90" "939" "0" "940" "0" "c.(939_940del)" "r.(?)" "p.(Cys313*)" "3" "0000442652" "00013975" "90" "669" "0" "680" "0" "c.(669_680del)" "r.669_680del" "p.(Gly224_Ile227del)" "2" "0000442653" "00013975" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "2" "0000442654" "00013975" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "2" "0000442655" "00013975" "50" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Arg185Thr)" "2" "0000442656" "00013975" "10" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Pro198Ala)" "2" "0000442657" "00013975" "10" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Pro198Ala)" "2" "0000442658" "00013975" "10" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Ile225Thr)" "2" "0000442659" "00013975" "10" "747" "8" "747" "8" "c.747+8A>G" "r.(?)" "p.(=)" "2i" "0000442660" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442661" "00013975" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "2" "0000442662" "00013975" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000442663" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.[373_374ins373+1_373+108; 373+5g>a]" "p.Ser125Cysfs*3" "1i" "0000442664" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.[373_374ins373+1_373+108; 373+5g>a]" "p.Ser125Cysfs*3" "1i" "0000442665" "00013975" "90" "373" "5" "373" "5" "c.373+5G>A" "r.[373_374ins373+1_373+108; 373+5g>a]" "p.Ser125Cysfs*3" "1i" "0000513757" "00013975" "30" "-137394" "0" "-137394" "0" "c.-137394C>A" "r.(?)" "p.(=)" "" "0000607351" "00013975" "30" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Ile225Thr)" "" "0000650377" "00013975" "30" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Ile225Thr)" "" "0000650378" "00013975" "30" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Leu156Ile)" "" "0000650379" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000884650" "00013975" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000211160" "0000442600" "0000211161" "0000442601" "0000211161" "0000442602" "0000211162" "0000442603" "0000211163" "0000442604" "0000211163" "0000442605" "0000211164" "0000442606" "0000211165" "0000442607" "0000211166" "0000442608" "0000211167" "0000442609" "0000211168" "0000442610" "0000211169" "0000442611" "0000211169" "0000442612" "0000211170" "0000442613" "0000211170" "0000442614" "0000211171" "0000442615" "0000211172" "0000442616" "0000211173" "0000442617" "0000211174" "0000442618" "0000211175" "0000442619" "0000211176" "0000442620" "0000211177" "0000442621" "0000211177" "0000442622" "0000211178" "0000442623" "0000211179" "0000442624" "0000211180" "0000442625" "0000211181" "0000442626" "0000211181" "0000442627" "0000211181" "0000442628" "0000211182" "0000442629" "0000211183" "0000442630" "0000211183" "0000442631" "0000211184" "0000442632" "0000211184" "0000442633" "0000211185" "0000442634" "0000211186" "0000442635" "0000211187" "0000442636" "0000211188" "0000442637" "0000211189" "0000442638" "0000211189" "0000442639" "0000211190" "0000442640" "0000211190" "0000442641" "0000211191" "0000442642" "0000211191" "0000442643" "0000211192" "0000442644" "0000211192" "0000442645" "0000211193" "0000442646" "0000211194" "0000442647" "0000211195" "0000442648" "0000211196" "0000442649" "0000211197" "0000442650" "0000211198" "0000442651" "0000211199" "0000442652" "0000211200" "0000442653" "0000211201" "0000442654" "0000211202" "0000442655" "0000211203" "0000442656" "0000211204" "0000442657" "0000211205" "0000442658" "0000211206" "0000442659" "0000211207" "0000442660" "0000211208" "0000442661" "0000211209" "0000442662" "0000293688" "0000650377" "0000293689" "0000650378" "0000293690" "0000650379"