### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYOT) # 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}}" "MYOT" "myotilin" "5" "q31.2" "unknown" "LRG_201" "UD_132118361592" "" "https://www.DMD.nl/myot_home.html" "" "1" "12399" "9499" "604103" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MYOT_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2000-09-15 00:00:00" "00006" "2019-12-31 16:20:14" "00006" "2022-01-15 16:42:18" ## 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}}" "00014202" "MYOT" "transcript variant 1" "001" "NM_006790.2" "" "NP_006781.1" "" "" "" "-309" "1963" "1497" "137203545" "137223540" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "2016-10-22 17:54:40" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01449" "LGMD1A" "dystrophy, muscular, limb-girdle, type 1A (LGMD-1A)" "" "159000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01562" "-" "myopathy, spheroid body" "AD" "182920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02832" "MFM3" "myopathy, myofibrillar, type 3 (MFM-3)" "AD" "609200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MYOT" "01449" "MYOT" "01562" "MYOT" "02832" ## Individuals ## Do not remove or alter this header ## ## Count = 130 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207796" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208036" "" "" "" "1" "" "00006" "{PMID:Bar 2007:17221859}" "" "" "" "France" "" "0" "" "" "Africa (N)" "?" "00210277" "" "" "" "7" "" "00006" "{PMID:Godley 1999:10486214}" "" "" "" "Italy" "" "0" "" "" "" "" "00210278" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210279" "" "" "" "21" "" "00006" "{PMID:Goebel 1974:571956}" "21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117" "" "" "United States" "" "0" "" "" "" "" "00210280" "" "" "" "6" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00210281" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00210282" "" "" "" "1" "" "00006" "{PMID:Godley 1999:10486214}" "MDL/AML patient" "" "" "Italy" "" "0" "" "" "" "Pat38" "00210283" "" "" "" "4" "" "00006" "{PMID:Hauser 2002:12428213}, {OMIM604103:0002}" "4 affecteds 3-generation family" "" "" "Argentina" "" "0" "" "" "" "" "00210284" "" "" "" "2" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0002}" "affected son and brother" "F" "" "United States" ">81y" "0" "" "" "" "Pat6" "00210285" "" "" "" "3" "" "00006" "{PMID:Olive 2005:15947064}" "3 unrelated sporadic patients" "" "" "Spain" "" "0" "" "" "" "" "00210286" "" "" "" "8" "" "00006" "{PMID:Olive 2005:15947064}" "8 affected 4 generation family" "" "" "Spain" "" "0" "" "" "" "Fam1" "00210287" "" "" "" "1" "" "00006" "{PMID:Hauser 2000:10958653}, {OMIM604103:0001}" "large north American family (German descent)" "" "" "United States" "" "0" "" "" "white" "" "00210288" "" "" "" "1" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "F" "" "United States" ">53y" "0" "" "" "" "Pat1" "00210289" "" "" "" "1" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "M" "" "United States" ">61y" "0" "" "" "" "Pat2" "00210290" "" "" "" "1" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "M" "" "United States" ">76y" "0" "" "" "" "Pat3" "00210291" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210292" "" "" "" "6" "" "00006" "{PMID:Olive 2005:15947064}" "6 affecteds 5 generation family" "F;M" "" "Spain" "" "0" "" "" "" "Fam2" "00210293" "" "" "" "2" "" "00006" "{PMID:Olive 2005:15947064}" "2 brothers" "M" "" "Spain" ">81y" "0" "" "" "" "Fam3" "00210294" "" "" "" "1" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0004}" "" "M" "" "United States" ">80y" "0" "" "" "" "Pat4" "00210295" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210296" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210297" "" "" "" "1" "" "00006" "{PMID:Godley 1999:10486214}" "MDL/AML patient" "" "" "Italy" "" "0" "" "" "" "Pat32" "00210298" "" "" "" "1" "" "00006" "{PMID:Selcen 2004:15111675}, {OMIM604103:0005}" "" "M" "" "United States" ">87y" "0" "" "" "" "Pat5" "00210299" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "found in relative of MFM patient" "" "" "Spain" "" "0" "" "" "" "" "00210300" "" "" "" "6" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00210301" "" "" "00210302" "1" "" "00006" "{PMID:Berciano 2008:17698502}" "uncle of 17698502.III2" "M" "" "Spain" ">76y" "0" "" "" "" "17698502.II3" "00210302" "" "" "" "11" "" "00006" "{PMID:Berciano 2008:17698502}" "5 generation family; 5 affected (F, 4M), 6 asymptomatic heterozygous carriers ((4F, 2M); niece of 17698502.II3" "F" "" "Spain" ">61y" "0" "" "" "" "17698502.III2" "00210303" "" "" "00210302" "3" "" "00006" "{PMID:Berciano 2008:17698502}" "5 generation family, 3 affecteds" "" "" "Spain" "" "0" "" "" "" "" "00210304" "" "" "00210302" "6" "" "00006" "{PMID:Berciano 2008:17698502}" "5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y)" "" "" "" "" "0" "" "" "" "" "00210305" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210306" "" "" "" "1" "" "00006" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "" "" "" "United States" "" "0" "" "" "" "" "00210308" "" "" "" "1" "" "00006" "{PMID:Garvey 2006:16801328}" "" "" "" "" "" "0" "" "" "" "mouse" "00210309" "" "" "" "1" "" "00006" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210310" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "daugther of 19590214-PatAf" "F" "" "(United Kingdom (Great Britain))" ">43y" "0" "" "" "" "19590214-PatA" "00210311" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "father of 19590214-PatA" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatAf" "00210312" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">57y" "0" "" "" "" "19590214-PatB" "00210313" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">59y" "0" "" "" "" "19590214-PatC" "00210314" "" "" "" "4" "" "00006" "{PMID:McNeill 2009:19590214}" "3-generation family, affected male" "M" "" "(United Kingdom (Great Britain))" ">68y" "0" "" "" "" "19590214-PatD" "00210315" "" "" "00210314" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "brother of 19590214-PatD" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDb" "00210316" "" "" "00210314" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "child of 19590214-PatD" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDc1" "00210317" "" "" "00210314" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "child of 19590214-PatD" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDc2" "00210318" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">81y" "0" "" "" "" "19590214-PatE" "00210319" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "" "M" "" "(United Kingdom (Great Britain))" ">66y" "0" "" "" "" "19590214-PatF" "00210320" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "father of 19590214-PatF" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatFf" "00210321" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">67y" "0" "" "" "" "19590214-PatG" "00210322" "" "" "" "1" "" "00006" "{PMID:McNeill 2009:19590214}" "mother difficulty walking mid-60s" "M" "" "(United Kingdom (Great Britain))" ">85y" "0" "" "" "" "19590214-PatH" "00210323" "" "" "" "1" "" "00006" "{PMID:Shalaby 2009:19458539}" "" "F" "" "Japan" "" "0" "" "" "" "19458539-Pat1" "00210324" "" "" "" "1" "" "00006" "{PMID:Shalaby 2009:19458539}" "father of 19458539-Pat1" "M" "" "Japan" "" "0" "" "" "" "19458539-Pat1f" "00210325" "" "" "" "1" "" "00006" "{PMID:Shalaby 2009:19458539}" "elder sister of 19458539-Pat1" "F" "" "Japan" "" "0" "" "" "" "19458539-Pat1s" "00210326" "" "" "" "1" "" "00006" "{PMID:Gamez 2009:19027924}" "" "M" "" "Spain" "" "0" "" "" "" "19027924-Pat1" "00210327" "" "" "" "1" "" "00006" "{PMID:Gamez 2009:19027924}" "father of 19027924-Pat1" "M" "" "Spain" "71y" "0" "" "" "" "19027924-Pat1f" "00210328" "" "" "" "1" "" "00006" "{PMID:Gamez 2009:19027924}" "brother of 19027924-Pat1" "M" "" "Spain" "" "0" "" "" "" "19027924-Pat1b" "00210329" "" "" "" "1" "" "00006" "{PMID:Gamez 2009:19027924}" "aunt of 19027924-Pat1" "F" "" "Spain" "" "0" "" "" "" "19027924-Pat1a" "00210330" "" "" "" "1" "" "00006" "{PMID:Claeys 2008:18653338}" "" "M" "" "" ">71y" "0" "" "" "" "18653338-Pat18" "00210331" "" "" "" "1" "" "00006" "{PMID:Claeys 2008:18653338}" "" "M" "" "" ">62y" "0" "" "" "" "18653338-Pat19" "00210332" "" "" "" "6" "" "00006" "see also {PMID:Penisson-Besniers 1998:9829275}" "3-generation family, 4 affecteds, 2 asymptomatic carriers" "" "" "France" "" "0" "" "" "" "16793270-Fam" "00210333" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00210334" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00210335" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210336" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210337" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210338" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210339" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210340" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210341" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210370" "" "" "" "1" "" "00006" "{PMID:Reilich 2011:21336781}" "" "F" "" "Turkey" "" "0" "" "" "" "21336781" "00219534" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219606" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219657" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219697" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219699" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219708" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219780" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219795" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219806" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219876" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219971" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219986" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220060" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220143" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220147" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220165" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220223" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220270" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220305" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220360" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220481" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220845" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220939" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220949" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221194" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221386" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221399" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221438" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221478" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221546" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221667" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221707" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221799" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221903" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221959" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221991" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222010" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222011" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222021" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222144" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222152" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222187" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222352" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222420" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222506" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222653" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00265542" "" "" "" "1" "" "03441" "{PMID:Izumi 2015:27066573}, Izumi 2020 (submitted)" "" "M" "" "Japan" "" "0" "" "" "" "Dys149-1" "00274314" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "F" "" "United States" "" "0" "" "" "" "Fam1027" "00288999" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat53" "00289000" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat54" "00301097" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00301615" "" "" "" "1" "" "03678" "" "heterozygous patient, family history" "M" "" "Greece" "49y" "0" "" "" "" "" "00305756" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P27" "00314382" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314383" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314384" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314730" "" "" "" "1" "" "00006" "{PMID:Yis 2018:30838351}" "" "" "" "Turkey" "" "0" "" "" "" "Pat22" "00388681" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat118" "00398985" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P3" "00399043" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P100" "00399063" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P133" "00399106" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P193" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 129 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00208036" "00244" "00210277" "00000" "00210278" "05299" "00210279" "05299" "00210280" "00000" "00210281" "00000" "00210282" "00000" "00210283" "05126" "00210284" "05299" "00210285" "05299" "00210286" "05299" "00210287" "05126" "00210288" "05299" "00210289" "05299" "00210290" "05299" "00210291" "05299" "00210292" "05299" "00210293" "05299" "00210294" "05299" "00210295" "05299" "00210296" "05299" "00210297" "00000" "00210298" "05299" "00210299" "00000" "00210300" "00000" "00210301" "05299" "00210302" "05299" "00210303" "05299" "00210304" "00000" "00210305" "00000" "00210306" "00000" "00210308" "05126" "00210309" "00000" "00210310" "05299" "00210311" "05299" "00210312" "05299" "00210313" "05299" "00210314" "05299" "00210315" "05299" "00210316" "00000" "00210317" "00000" "00210318" "05299" "00210319" "05299" "00210320" "05299" "00210321" "05299" "00210322" "05299" "00210323" "05126" "00210324" "05126" "00210325" "05126" "00210326" "05299" "00210327" "05299" "00210328" "05299" "00210329" "05299" "00210330" "05299" "00210331" "05299" "00210332" "05299" "00210333" "05126" "00210334" "05126" "00210335" "00198" "00210336" "00198" "00210337" "00198" "00210338" "00198" "00210339" "00198" "00210340" "00198" "00210341" "00198" "00210370" "05126" "00219534" "05126" "00219606" "05126" "00219657" "05126" "00219697" "05126" "00219699" "05126" "00219708" "05126" "00219780" "05126" "00219795" "05126" "00219806" "05126" "00219876" "05126" "00219971" "05126" "00219986" "05126" "00220060" "05126" "00220143" "05126" "00220147" "05126" "00220165" "05126" "00220223" "05126" "00220270" "05126" "00220305" "05126" "00220360" "05126" "00220481" "05126" "00220845" "05126" "00220939" "05126" "00220949" "05126" "00221194" "05126" "00221386" "05126" "00221399" "05126" "00221438" "05126" "00221478" "05126" "00221546" "05126" "00221667" "05126" "00221707" "05126" "00221799" "05126" "00221903" "05126" "00221959" "05126" "00221991" "05126" "00222010" "05126" "00222011" "05126" "00222021" "05126" "00222144" "05126" "00222152" "05126" "00222187" "05126" "00222352" "05126" "00222420" "05126" "00222506" "05126" "00222653" "05126" "00265542" "05121" "00274314" "05126" "00288999" "00244" "00289000" "00244" "00301097" "00198" "00301615" "01449" "00305756" "05126" "00314382" "05126" "00314383" "05126" "00314384" "05126" "00314730" "05126" "00388681" "00244" "00398985" "05618" "00399043" "05618" "00399063" "05618" "00399106" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 01449, 01562, 02832, 05121, 05126, 05299, 05618 ## Count = 81 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000155579" "00198" "00207796" "01164" "Unknown" "" "HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia)" "" "" "" "" "" "" "" "" "" "" "" "0000155805" "00244" "00208036" "00006" "Unknown" "" "progressive cardiac and skeletal myopathy" "" "" "" "" "" "" "" "" "MFM-1" "myofibrillar myopathy" "" "0000158843" "00000" "00210277" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158844" "05299" "00210278" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158845" "05299" "00210279" "00006" "Unknown" "" "phenotype called SBM (spheroid body myopathy)" "30y-40y" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158846" "00000" "00210280" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158847" "00000" "00210281" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158848" "00000" "00210282" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158849" "05126" "00210283" "00006" "Familial" "" "raised CPK level (HP:0003236) 5x-15x" "42y-58y" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158850" "05299" "00210284" "00006" "Familial" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "51y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158851" "05299" "00210285" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158852" "05299" "00210286" "00006" "Unknown" "" "raised CPK level (HP:0003236) 2x" "48y-52y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158853" "05126" "00210287" "00006" "Unknown" "" "" "27y" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158854" "05299" "00210288" "00006" "Isolated (sporadic)" "" "raised CPK level (HP:0003236) 2x" "50y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158855" "05299" "00210289" "00006" "Isolated (sporadic)" "" "raised CPK level (HP:0003236) 2x" "54y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158856" "05299" "00210290" "00006" "Familial" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "67y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158857" "05299" "00210291" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158858" "05299" "00210292" "00006" "Unknown" "" "cardiomyopathy" "58y-60y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158859" "05299" "00210293" "00006" "Familial" "" "no raised CPK level (-HP:0003236) normal / ?" "65y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158860" "05299" "00210294" "00006" "Isolated (sporadic)" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "77y" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158861" "05299" "00210295" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158862" "05299" "00210296" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158863" "00000" "00210297" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158864" "05299" "00210298" "00006" "Unknown" "" "raised CPK level (HP:0003236) 2x" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "0000158865" "00000" "00210299" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158866" "00000" "00210300" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158867" "05299" "00210301" "00006" "Unknown" "" "late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling; CPK level 1.5x" "50y" "" "slowly progressive leg weakness (ankle twisting, stumbling)" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158868" "05299" "00210302" "00006" "Unknown" "" "late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern; CPK level 1.5x" "53y" "" "slowly progressive weakness" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158869" "05299" "00210303" "00006" "Unknown" "" "late-onset, distal lower-limb weakness" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158870" "00000" "00210304" "00006" "Unknown" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000158871" "00000" "00210305" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158872" "00000" "00210306" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158874" "05126" "00210308" "00006" "Unknown" "" "progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared)" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000158875" "00000" "00210309" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158876" "05299" "00210310" "00006" "Familial" "" "mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal" "40y" "" "leg aches upon exertion" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158877" "05299" "00210311" "00006" "Isolated (sporadic)" "" "distal myopathy" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158878" "05299" "00210312" "00006" "Isolated (sporadic)" "" "55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x" "55y" "" "difficulty walking" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158879" "05299" "00210313" "00006" "Isolated (sporadic)" "" "mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors; CPK level 1.5x" "54y" "" "difficulty climbing stairs" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158880" "05299" "00210314" "00006" "Familial" "" "bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x" "59y" "" "weakness finger extensors" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158881" "05299" "00210315" "00006" "Familial" "" "distal arm/leg weakness" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158882" "00000" "00210316" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158883" "00000" "00210317" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158884" "05299" "00210318" "00006" "Isolated (sporadic)" "" "81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes; no raised CPK level (-HP:0003236) normal" "66y" "" "foot drop" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158885" "05299" "00210319" "00006" "Familial" "" "distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying); raised CPK level (HP:0003236) 2x" "45y" "" "difficulty climbing stairs" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158886" "05299" "00210320" "00006" "Isolated (sporadic)" "" "late-onset muscle weakness, wheelchair bound 64y" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158887" "05299" "00210321" "00006" "Isolated (sporadic)" "" "67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2ñ3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; no raised CPK level (-HP:0003236) normal" "59y" "" "foot drop" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158888" "05299" "00210322" "00006" "Isolated (sporadic)" "" "85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; CPK level 1.5-2x" "76y" "" "bilateral foot drop, weak finger flexion" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158889" "05126" "00210323" "00006" "Familial" "" "progressive muscle weakness, 50y-difficulty walk long distances, not able to stand up/climb stairs without support, 57y-proximal dominant muscle weakness, esp. neck flexors, iliopsoas, hamstring, quadriceps muscles, facial muscle weakness, waddling gait, decreased deep tendon reflexes" "41y" "" "difficulty standing up/climbing stairs" "IHC immunoreactive aggregates MYOT, CRY[alpha]B, ZASP, DES, actin; WB increased MYOT monomer" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158890" "05126" "00210324" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158891" "05126" "00210325" "00006" "Familial" "" "original diagnosis sporadic inclusion body myositis; raised CPK level (HP:0003236) >2x" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158892" "05299" "00210326" "00006" "Familial" "" "generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles; no raised CPK level (-HP:0003236) normal" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158893" "05299" "00210327" "00006" "Isolated (sporadic)" "" "gait disorder similar to son" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158894" "05299" "00210328" "00006" "Familial" "" "52y-acute myocardial infarction; 55y-Herculean appearance, normal muscle strength/nerve conduction, EMG myopathicdeltoid, vastus medialis, rectus femoris, tibialis anterior muscles without complex repetitive discharges." "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158895" "05299" "00210329" "00006" "Familial" "" "EMG myopathy" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158896" "05299" "00210330" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158897" "05299" "00210331" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158898" "05299" "00210332" "00006" "Familial" "" "CPK level 1-2x" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "0000158899" "05126" "00210333" "00464" "Unknown" "" "proximal and distal weakenss (LE>UE); facial weakness; raised CPK level (HP:0003236)" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158900" "05126" "00210334" "00464" "Unknown" "" "limb girdle weakness" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000158901" "00198" "00210335" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158902" "00198" "00210336" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158903" "00198" "00210337" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158904" "00198" "00210338" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158905" "00198" "00210339" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158906" "00198" "00210340" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158907" "00198" "00210341" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000158936" "05126" "00210370" "00006" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "0000203329" "05121" "00265542" "03441" "Familial, autosomal recessive" "" "see paper; …, hyper CKemia" "18y" "22y" "hyper CKemia" "" "" "" "" "" "hyperCKemia" "dysferlinopathy" "" "0000209259" "05126" "00274314" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000222634" "00244" "00288999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "centronuclear myopathy" "" "0000222635" "00244" "00289000" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "centronuclear myopathy" "" "0000228402" "00198" "00301097" "01164" "Unknown" "" "Abnormality of the calf musculature (HP:0001430); Abnormality of the shoulder girdle musculature (HP:0001435); Abnormality of the musculature of the upper limbs (HP:0001446); Scapular winging (HP:0003691); Calf muscle pseudohypertrophy (HP:0003707)" "" "" "" "" "" "" "" "" "" "" "" "0000228721" "01449" "00301615" "03678" "Familial, autosomal dominant" "" "mother with acute ischemic stroke, son with cardiac defibrillator" "" "" "" "" "" "" "" "" "" "" "" "0000231602" "05126" "00305756" "00006" "Unknown" "5y" "moderate (MRC grade 3-4/5); upper limbs more severe than lower limbs; scapular winging; elevated serum CK (max. 213 IU/L); biopsy dystrophic; inflammation" "3y" "" "" "　　　" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000238532" "05126" "00314730" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD1A" "" "" "0000282221" "00244" "00388681" "00006" "Familial, autosomal dominant" "62y" "proximal muscle weakness; CK level ; difficulty getting up from ground, Winging of scapula; Most-affected muscles: Severe upper and lower girdle weakness; no cardiac involvement; 62y-ambulant" "59y" "" "" "" "" "" "" "" "" "" "" "0000292073" "05618" "00398985" "00006" "Unknown" "" "limb-girdle muscle weakness" ">18y" "" "" "" "" "" "" "" "" "limb-girdle muscular dytrophy" "" "0000292131" "05618" "00399043" "00006" "Unknown" "" "serum CK normal; muscle biopsy rimmed vacuoles, protein aggregates ; muscle weakness" "70y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292151" "05618" "00399063" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292194" "05618" "00399106" "00006" "Unknown" "" "distal muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 130 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000208837" "00207796" "1" "01164" "01164" "2018-11-30 14:43:57" "" "" "SEQ-NG" "DNA" "" "" "0000209083" "00208036" "1" "00006" "00006" "2008-06-20 20:39:37" "00006" "2018-12-07 13:16:54" "SEQ" "DNA" "" "" "0000211353" "00210277" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000211354" "00210278" "1" "00006" "00006" "2006-02-26 21:09:49" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211355" "00210279" "1" "00006" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211356" "00210280" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211357" "00210281" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211358" "00210282" "1" "00006" "00006" "2006-02-17 19:58:08" "00006" "2013-02-01 19:44:12" "SEQ;SSCA" "DNA" "" "" "0000211359" "00210283" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2012-03-04 15:57:47" "DHPLC" "DNA" "" "" "0000211360" "00210284" "1" "00006" "00006" "2006-02-19 16:34:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211361" "00210285" "1" "00006" "00006" "2006-02-26 20:56:32" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211362" "00210286" "1" "00006" "00006" "2006-02-26 21:00:44" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211363" "00210287" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000211364" "00210288" "1" "00006" "00006" "2006-02-17 17:45:30" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211365" "00210289" "1" "00006" "00006" "2006-02-19 16:25:42" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211366" "00210290" "1" "00006" "00006" "2006-02-19 16:27:34" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211367" "00210291" "1" "00006" "00006" "2006-02-26 21:01:35" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211368" "00210292" "1" "00006" "00006" "2006-02-26 21:04:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211369" "00210293" "1" "00006" "00006" "2006-02-26 21:06:33" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211370" "00210294" "1" "00006" "00006" "2006-02-17 17:48:41" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211371" "00210295" "1" "00006" "00006" "2006-02-26 20:54:42" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211372" "00210296" "1" "00006" "00006" "2006-02-26 21:12:14" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211373" "00210297" "1" "00006" "00006" "2006-02-17 19:55:12" "00006" "2013-02-01 19:44:12" "SEQ;SSCA" "DNA" "" "" "0000211374" "00210298" "1" "00006" "00006" "2006-02-17 17:50:14" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211375" "00210299" "1" "00006" "00006" "2006-02-26 21:15:31" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211376" "00210300" "1" "00006" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211377" "00210301" "1" "00006" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211378" "00210302" "1" "00006" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211379" "00210303" "1" "00006" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211380" "00210304" "1" "00006" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211381" "00210305" "1" "00006" "00006" "2006-02-26 21:09:49" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211382" "00210306" "1" "00006" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211384" "00210308" "1" "00006" "00006" "2011-09-30 19:14:59" "00006" "2013-02-01 19:44:12" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000211385" "00210309" "1" "00006" "00006" "2006-02-26 21:12:14" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211386" "00210310" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211387" "00210311" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211388" "00210312" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211389" "00210313" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211390" "00210314" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211391" "00210315" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211392" "00210316" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211393" "00210317" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211394" "00210318" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211395" "00210319" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211396" "00210320" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211397" "00210321" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211398" "00210322" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211399" "00210323" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211400" "00210324" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211401" "00210325" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211402" "00210326" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211403" "00210327" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000211404" "00210328" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "SEQ" "DNA" "" "" "0000211405" "00210329" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "SEQ" "DNA" "" "" "0000211406" "00210330" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211407" "00210331" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211408" "00210332" "1" "00006" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "SEQ" "DNA" "" "" "0000211409" "00210333" "1" "00464" "00006" "2011-09-19 19:15:51" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000211410" "00210334" "1" "00464" "00006" "2011-09-19 19:18:35" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000211411" "00210335" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211412" "00210336" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211413" "00210337" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211414" "00210338" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211415" "00210339" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211416" "00210340" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211417" "00210341" "1" "00430" "00006" "2012-10-26 14:31:00" "" "" "SEQ" "DNA" "" "" "0000211446" "00210370" "1" "00006" "00006" "2018-12-27 19:33:22" "" "" "SEQ" "DNA" "" "" "0000220605" "00219534" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220677" "00219606" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220728" "00219657" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220768" "00219697" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220770" "00219699" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220779" "00219708" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220851" "00219780" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220866" "00219795" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220877" "00219806" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220947" "00219876" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221042" "00219971" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221057" "00219986" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221131" "00220060" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221214" "00220143" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221218" "00220147" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221236" "00220165" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221294" "00220223" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221341" "00220270" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221376" "00220305" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221431" "00220360" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221552" "00220481" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221916" "00220845" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222010" "00220939" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222020" "00220949" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222265" "00221194" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222457" "00221386" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222470" "00221399" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222509" "00221438" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222549" "00221478" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222617" "00221546" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222738" "00221667" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222778" "00221707" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222870" "00221799" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222974" "00221903" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223030" "00221959" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223062" "00221991" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223081" "00222010" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223082" "00222011" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223092" "00222021" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223215" "00222144" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223223" "00222152" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223258" "00222187" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223423" "00222352" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223491" "00222420" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223577" "00222506" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223724" "00222653" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000266664" "00265542" "1" "00006" "00006" "2019-08-23 12:48:12" "00006" "2019-09-26 17:25:36" "SEQ;SEQ-NG" "DNA" "" "42 gene panel" "0000275470" "00274314" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290167" "00288999" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290168" "00289000" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000302219" "00301097" "1" "01164" "01164" "2020-05-07 10:13:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302740" "00301615" "1" "03678" "03678" "2020-05-19 14:36:35" "" "" "SEQ-NG" "DNA" "" "" "0000306886" "00305756" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000315555" "00314382" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315556" "00314383" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315557" "00314384" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315903" "00314730" "1" "00006" "00006" "2020-10-15 08:25:08" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome" "0000389923" "00388681" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000400230" "00398985" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400288" "00399043" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400308" "00399063" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400351" "00399106" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{geneid}}" "0000209083" "DES" "0000209083" "MYOT" "0000211353" "MYOT" "0000211354" "MYOT" "0000211355" "MYOT" "0000211356" "MYOT" "0000211357" "MYOT" "0000211358" "MYOT" "0000211359" "MYOT" "0000211360" "MYOT" "0000211361" "MYOT" "0000211362" "MYOT" "0000211363" "MYOT" "0000211364" "MYOT" "0000211365" "MYOT" "0000211366" "MYOT" "0000211367" "MYOT" "0000211368" "MYOT" "0000211369" "MYOT" "0000211370" "MYOT" "0000211371" "MYOT" "0000211372" "MYOT" "0000211373" "MYOT" "0000211374" "MYOT" "0000211375" "MYOT" "0000211376" "MYOT" "0000211377" "MYOT" "0000211378" "MYOT" "0000211379" "MYOT" "0000211380" "MYOT" "0000211381" "MYOT" "0000211382" "MYOT" "0000211384" "MYOT" "0000211385" "MYOT" "0000211386" "MYOT" "0000211387" "MYOT" "0000211388" "MYOT" "0000211389" "MYOT" "0000211390" "MYOT" "0000211391" "MYOT" "0000211392" "MYOT" "0000211393" "MYOT" "0000211394" "MYOT" "0000211395" "MYOT" "0000211396" "MYOT" "0000211397" "MYOT" "0000211398" "MYOT" "0000211399" "MYOT" "0000211400" "MYOT" "0000211401" "MYOT" "0000211402" "MYOT" "0000211403" "MYOT" "0000211404" "MYOT" "0000211405" "MYOT" "0000211406" "MYOT" "0000211407" "MYOT" "0000211408" "MYOT" "0000211409" "MYOT" "0000211410" "MYOT" "0000211411" "MYOT" "0000211412" "MYOT" "0000211413" "MYOT" "0000211414" "MYOT" "0000211415" "MYOT" "0000211416" "MYOT" "0000211446" "MYOT" "0000266664" "CAV3" "0000266664" "DYSF" "0000266664" "MYOT" "0000275470" "MYOT" "0000290167" "MYOT" "0000290168" "MYOT" "0000302740" "MYOT" "0000306886" "MYOT" "0000315555" "MYOT" "0000315556" "MYOT" "0000315557" "MYOT" "0000315903" "MYOT" ## 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 = 184 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000246313" "0" "10" "5" "137206560" "137206560" "subst" "0.996685" "02330" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT(NM_006790.2):c.220A>C (p.K74Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870871=" "" "benign" "" "0000248254" "0" "10" "5" "137206560" "137206560" "subst" "0.996685" "02325" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT(NM_006790.2):c.220A>C (p.K74Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870871=" "" "benign" "" "0000251142" "0" "10" "5" "137206489" "137206489" "subst" "0.00593241" "02326" "MYOT_000010" "g.137206489A>G" "" "" "" "MYOT(NM_006790.2):c.149A>G (p.Q50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870800A>G" "" "benign" "" "0000251343" "0" "10" "5" "137221914" "137221914" "subst" "0.00120489" "02326" "MYOT_000034" "g.137221914A>G" "" "" "" "MYOT(NM_006790.2):c.1190+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137886225A>G" "" "benign" "" "0000251700" "0" "30" "5" "137206560" "137206560" "subst" "0.996685" "02326" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT(NM_006790.2):c.220A>C (p.K74Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870871=" "" "likely benign" "" "0000252747" "0" "50" "5" "137211688" "137211688" "subst" "0" "02326" "MYOT_000025" "g.137211688A>G" "" "" "" "MYOT(NM_006790.2):c.527A>G (p.N176S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137875999A>G" "" "VUS" "" "0000299869" "0" "10" "5" "137219264" "137219264" "subst" "0.00405306" "02326" "MYOT_000021" "g.137219264G>T" "" "" "" "MYOT(NM_006790.2):c.1008G>T (p.V336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137883575G>T" "" "benign" "" "0000299870" "0" "30" "5" "137206460" "137206460" "subst" "0.000188822" "02326" "MYOT_000023" "g.137206460T>A" "" "" "" "MYOT(NM_006790.2):c.120T>A (p.I40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870771T>A" "" "likely benign" "" "0000299871" "0" "30" "5" "137222978" "137222978" "subst" "0.000251787" "02326" "MYOT_000035" "g.137222978T>C" "" "" "" "MYOT(NM_006790.2):c.1401T>C (p.N467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137887289T>C" "" "likely benign" "" "0000299872" "0" "90" "5" "137206519" "137206519" "subst" "0" "02326" "MYOT_000036" "g.137206519C>G" "" "" "" "MYOT(NM_006790.2):c.179C>G (p.S60C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000299873" "0" "90" "5" "137206519" "137206519" "subst" "0.00003692" "02326" "MYOT_000008" "g.137206519C>T" "" "" "" "MYOT(NM_006790.2):c.179C>T (p.S60F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000299874" "0" "30" "5" "137206683" "137206683" "subst" "0.000844853" "02326" "MYOT_000014" "g.137206683G>A" "" "" "" "MYOT(NM_006790.2):c.343G>A (p.A115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870994G>A" "" "likely benign" "" "0000299875" "0" "10" "5" "137213307" "137213307" "subst" "0.0015393" "02326" "MYOT_000032" "g.137213307G>A" "" "" "" "MYOT(NM_006790.2):c.630G>A (p.S210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137877618G>A" "" "benign" "" "0000330527" "0" "50" "5" "137216491" "137216495" "del" "0" "01804" "MYOT_000041" "g.137216491_137216495del" "" "" "" "MYOT(NM_006790.2):c.634-17_634-13del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137880802_137880806del" "" "VUS" "" "0000330528" "0" "50" "5" "137217758" "137217758" "subst" "0.00356125" "01804" "MYOT_000026" "g.137217758G>A" "" "" "" "MYOT(NM_001135940.1):c.228G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137882069G>A" "" "VUS" "" "0000344400" "0" "50" "5" "137206480" "137206480" "subst" "0.00000410297" "02327" "MYOT_000029" "g.137206480G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870791G>A" "" "VUS" "" "0000349115" "0" "50" "5" "137206519" "137206519" "subst" "0.00003692" "02327" "MYOT_000037" "g.137206519C>T" "" "" "" "MYOT(NM_006790.2):c.179C>T (p.S60F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137870830C>T" "" "VUS" "" "0000438825" "0" "70" "5" "137206519" "137206519" "subst" "0.00003692" "01164" "MYOT_000008" "g.137206519C>T" "" "" "" "" "ACMG grading: PM2,PP1,PS4,PM1" "Germline" "" "rs121908458" "0" "" "" "g.137870830C>T" "" "likely pathogenic" "ACMG" "0000439329" "3" "50" "5" "137206560" "137206560" "subst" "0" "00006" "MYOT_000013" "g.137206560C>A" "" "{PMID:Bar 2007:17221859}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000442838" "1" "10" "5" "137223172" "137223172" "subst" "0" "00006" "MYOT_000002" "g.137223172G>A" "7/54" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "rs4288" "0" "" "" "g.137887483G>A" "" "benign" "" "0000442839" "1" "90" "5" "137206446" "137206446" "subst" "0.00000820829" "00006" "MYOT_000012" "g.137206446A>G" "" "{PMID:Olive 2005:15947064}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.137870757A>G" "" "pathogenic (dominant)" "" "0000442840" "1" "90" "5" "137206456" "137206456" "subst" "0" "00006" "MYOT_000011" "g.137206456C>T" "" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "BbsI-" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.137870767C>T" "" "pathogenic (dominant)" "" "0000442841" "1" "10" "5" "137206217" "137206217" "subst" "0" "00006" "MYOT_000004" "g.137206217T>G" "6/50" "" "" "" "sequence comparison" "Germline" "" "" "0" "" "" "g.137870528T>G" "" "benign" "" "0000442842" "1" "10" "5" "137222855" "137222855" "subst" "0.000105717" "00006" "MYOT_000006" "g.137222855T>C" "0.01" "" "" "" "" "Germline" "" "rs3764812" "0" "" "" "g.137887166T>C" "" "benign" "" "0000442843" "1" "10" "5" "137206489" "137206489" "subst" "0.00593241" "00006" "MYOT_000010" "g.137206489A>G" "" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870800A>G" "" "benign" "" "0000442844" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Hauser 2002:12428213}, {OMIM604103:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442845" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442846" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442847" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442848" "1" "90" "5" "137206510" "137206510" "subst" "0" "00006" "MYOT_000001" "g.137206510C>T" "" "{PMID:Hauser 2000:10958653}, {OMIM604103:0001}" "" "450C>T" "not in control chromosomes (0/396 USA, 0/200 Finland, 0/60 Japan)" "Germline" "" "rs28937597" "0" "" "" "g.137870821C>T" "" "pathogenic (dominant)" "" "0000442849" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442850" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442851" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442852" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442853" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442854" "1" "90" "5" "137206519" "137206519" "subst" "0" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic (dominant)" "" "0000442855" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0004}" "" "459C>T" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442856" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442857" "1" "90" "5" "137206560" "137206560" "subst" "0" "00006" "MYOT_000013" "g.137206560C>A" "" "{PMID:Olive 2005:15947064}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000442858" "1" "10" "5" "137203603" "137203603" "subst" "0" "00006" "MYOT_000015" "g.137203603A>G" "" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "" "0" "" "" "g.137867914A>G" "" "benign" "" "0000442859" "1" "90" "5" "137206624" "137206624" "subst" "0" "00006" "MYOT_000009" "g.137206624G>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0005}" "" "564G>T" "" "Germline" "" "" "0" "" "" "g.137870935G>T" "" "pathogenic (dominant)" "" "0000442860" "1" "10" "5" "137206683" "137206683" "subst" "0.000844853" "00006" "MYOT_000014" "g.137206683G>A" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "g.137870994G>A" "" "benign" "" "0000442861" "1" "10" "5" "137211643" "137211643" "subst" "0" "00006" "MYOT_000005" "g.137211643T>G" "6/31" "" "" "" "sequence comparison" "Germline" "" "" "0" "" "" "g.137875954T>G" "" "benign" "" "0000442862" "11" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442863" "11" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442864" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442865" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442866" "1" "90" "5" "137206446" "137206446" "subst" "0.00000820829" "00006" "MYOT_000012" "g.137206446A>G" "0/200" "{PMID:Olive 2005:15947064}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.137870757A>G" "" "pathogenic (dominant)" "" "0000442867" "1" "90" "5" "137206456" "137206456" "subst" "0" "00006" "MYOT_000011" "g.137206456C>T" "0/270" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "BbsI-" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.137870767C>T" "" "pathogenic (dominant)" "" "0000442869" "1" "90" "5" "137206510" "137206510" "subst" "0" "00006" "MYOT_000000" "g.137206510C>T" "" "{PMID:Garvey 2006:16801328}" "" "450C>T" "transgenic mouse expressing MYOT under control human skeletal actin promoter; protein properly localizes to Z-disc" "animal model" "" "rs28937597" "0" "" "" "g.137870821C>T" "" "pathogenic (dominant)" "" "0000442870" "1" "90" "5" "137206560" "137206560" "subst" "0" "00006" "MYOT_000013" "g.137206560C>A" "0/200" "{PMID:Olive 2005:15947064}" "" "" "control chomosomes\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000442871" "11" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442872" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442873" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442874" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442875" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442876" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442877" "11" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442878" "11" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442879" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442880" "11" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442881" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442882" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442883" "20" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442884" "11" "90" "5" "137222576" "137222576" "subst" "0" "00006" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137886887G>A" "" "pathogenic (dominant)" "" "0000442885" "1" "90" "5" "137222576" "137222576" "subst" "0" "00006" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137886887G>A" "" "pathogenic (dominant)" "" "0000442886" "11" "90" "5" "137222576" "137222576" "subst" "0" "00006" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137886887G>A" "" "pathogenic (dominant)" "" "0000442887" "11" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442888" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442889" "11" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442890" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442891" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:Claeys 2008:18653338}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442892" "0" "10" "5" "137206560" "137206560" "subst" "0" "00006" "MYOT_000013" "g.137206560C>A" "" "{PMID:Claeys 2008:18653338}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000442893" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:Claeys 2008:18653338}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic (dominant)" "" "0000442894" "0" "10" "5" "137206560" "137206560" "subst" "0" "00006" "MYOT_000013" "g.137206560C>A" "" "{PMID:Claeys 2008:18653338}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000442895" "1" "90" "5" "137206504" "137206504" "subst" "0" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Penisson-Besniers 2006:16793270}" "" "444C>T" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "pathogenic (dominant)" "" "0000442896" "1" "90" "5" "137206510" "137206510" "subst" "0" "00464" "MYOT_000001" "g.137206510C>T" "" "" "" "" "" "Germline" "" "rs28937597" "0" "" "" "g.137870821C>T" "" "pathogenic (dominant)" "" "0000442897" "0" "50" "5" "137222990" "137222990" "subst" "0.0000243683" "00464" "MYOT_000017" "g.137222990G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.137887301G>T" "" "VUS" "" "0000442898" "0" "90" "5" "137206456" "137206456" "subst" "0" "00430" "MYOT_000011" "g.137206456C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137870767C>T" "" "pathogenic (dominant)" "" "0000442899" "0" "10" "5" "137206560" "137206560" "subst" "0" "00430" "MYOT_000013" "g.137206560C>A" "" "from website {DBsub-Emory}" "" "220A>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000442900" "0" "50" "5" "137206663" "137206663" "subst" "0.000276252" "00430" "MYOT_000018" "g.137206663A>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137870974A>C" "" "VUS" "" "0000442901" "0" "10" "5" "137206683" "137206683" "subst" "0.000844853" "00430" "MYOT_000014" "g.137206683G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137870994G>A" "" "benign" "" "0000442902" "0" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000442903" "0" "50" "5" "137213294" "137213294" "subst" "0.000661945" "00430" "MYOT_000020" "g.137213294G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137877605G>A" "" "VUS" "" "0000442904" "0" "50" "5" "137219264" "137219264" "subst" "0.00405306" "00430" "MYOT_000021" "g.137219264G>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.137883575G>T" "" "VUS" "" "0000442905" "0" "90" "5" "137222576" "137222576" "subst" "0" "00006" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "in vitro expression coIP reduced homodimerization" "In vitro (cloned)" "" "" "0" "" "" "g.137886887G>A" "" "NA" "" "0000442906" "0" "90" "5" "137222576" "137222576" "subst" "0" "00006" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "YTH defective homodimerization, decreased interaction with alpha-actinin" "In vitro (cloned)" "" "" "0" "" "" "g.137886887G>A" "" "NA" "" "0000442935" "0" "90" "5" "137206357" "137206357" "subst" "0.0000448694" "00006" "MYOT_000036" "g.137206357G>A" "" "{PMID:Reilich 2011:21336781}" "" "n.17G>A" "not in 210 control chromosomes" "Germline/De novo (untested)" "" "" "0" "" "" "g.137870668G>A" "" "pathogenic (dominant)" "" "0000464645" "1" "50" "5" "137222990" "137222990" "subst" "0.0000243683" "00430" "MYOT_000017" "g.137222990G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in MYOT" "Germline" "" "" "0" "" "" "g.137887301G>T" "" "VUS" "" "0000464646" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464647" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464648" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464649" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis MYOT-related muscular dystrophy" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464650" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464651" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464652" "1" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000464653" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00430" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000464654" "1" "50" "5" "137222975" "137222975" "subst" "0.0000487341" "00430" "MYOT_000048" "g.137222975T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137887286T>G" "" "VUS" "" "0000464655" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464656" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464657" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464658" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464659" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464660" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464661" "1" "50" "5" "137221795" "137221795" "dup" "0" "00430" "MYOT_000045" "g.137221795dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1083dupA" "" "Germline" "" "" "0" "" "" "g.137886106dup" "" "VUS" "" "0000464662" "1" "50" "5" "137222627" "137222627" "subst" "0.00000406134" "00430" "MYOT_000047" "g.137222627C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in MYOT" "Germline" "" "" "0" "" "" "g.137886938C>T" "" "VUS" "" "0000464663" "1" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000464664" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464665" "1" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000464666" "1" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000464667" "1" "50" "5" "137206663" "137206663" "subst" "0.000276252" "00430" "MYOT_000018" "g.137206663A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870974A>C" "" "VUS" "" "0000464668" "1" "50" "5" "137211606" "137211606" "subst" "0.00182789" "00430" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137875917G>C" "" "VUS" "" "0000464669" "1" "50" "5" "137216527" "137216527" "subst" "0.000036622" "00430" "MYOT_000042" "g.137216527G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137880838G>A" "" "VUS" "" "0000464670" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464671" "1" "50" "5" "137213248" "137213248" "subst" "0.000304561" "00430" "MYOT_000040" "g.137213248G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137877559G>C" "" "VUS" "" "0000464672" "1" "50" "5" "137223030" "137223030" "subst" "0.0000487377" "00430" "MYOT_000050" "g.137223030C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137887341C>T" "" "VUS" "" "0000464673" "1" "50" "5" "137216550" "137216550" "subst" "0" "00430" "MYOT_000043" "g.137216550G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137880861G>A" "" "VUS" "" "0000464674" "1" "50" "5" "137206597" "137206597" "subst" "0" "00430" "MYOT_000039" "g.137206597C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870908C>A" "" "VUS" "" "0000464675" "1" "50" "5" "137222565" "137222565" "subst" "0.000162685" "00430" "MYOT_000046" "g.137222565T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137886876T>A" "" "VUS" "" "0000464676" "1" "50" "5" "137206462" "137206462" "subst" "0" "00430" "MYOT_000038" "g.137206462T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870773T>C" "" "VUS" "" "0000464677" "1" "50" "5" "137219190" "137219190" "subst" "0" "00430" "MYOT_000044" "g.137219190G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137883501G>T" "" "VUS" "" "0000464678" "1" "50" "5" "137216491" "137216495" "del" "0" "00430" "MYOT_000041" "g.137216491_137216495del" "" "{PMID:Nallamilli 2018:30564623}" "" "634-14_634-10delGTTTT" "" "Germline" "" "" "0" "" "" "g.137880802_137880806del" "" "VUS" "" "0000464679" "1" "90" "5" "137206510" "137206510" "subst" "0" "00430" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870821C>T" "" "pathogenic" "" "0000464680" "1" "50" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "VUS" "" "0000464681" "1" "50" "5" "137206374" "137206374" "subst" "0" "00430" "MYOT_000037" "g.137206374C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870685C>G" "" "VUS" "" "0000464682" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464683" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464684" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464685" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00430" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000464686" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464687" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464688" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00430" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000464689" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00430" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000464690" "1" "90" "5" "137206519" "137206519" "subst" "0.00003692" "00430" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "pathogenic" "" "0000464691" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000464692" "1" "50" "5" "137222978" "137222978" "subst" "0.000142138" "00430" "MYOT_000049" "g.137222978T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.137887289T>A" "" "VUS" "" "0000464694" "1" "90" "5" "137206519" "137206519" "subst" "0" "00430" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "pathogenic" "" "0000524251" "0" "50" "5" "137206534" "137206534" "subst" "0" "02326" "MYOT_000051" "g.137206534C>T" "" "" "" "MYOT(NM_006790.2):c.194C>T (p.S65F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137870845C>T" "" "VUS" "" "0000524252" "0" "30" "5" "137206683" "137206683" "subst" "0.000103536" "02326" "MYOT_000052" "g.137206683G>T" "" "" "" "MYOT(NM_006790.2):c.343G>T (p.A115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137870994G>T" "" "likely benign" "" "0000524254" "0" "50" "5" "137211606" "137211606" "subst" "0.00182789" "02330" "MYOT_000019" "g.137211606G>C" "" "" "" "MYOT(NM_006790.2):c.445G>C (p.E149Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875917G>C" "" "VUS" "" "0000524255" "0" "30" "5" "137211606" "137211606" "subst" "0.00182789" "02326" "MYOT_000019" "g.137211606G>C" "" "" "" "MYOT(NM_006790.2):c.445G>C (p.E149Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875917G>C" "" "likely benign" "" "0000524256" "0" "30" "5" "137216527" "137216527" "subst" "0.000036622" "02326" "MYOT_000042" "g.137216527G>A" "" "" "" "MYOT(NM_006790.2):c.656G>A (p.R219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137880838G>A" "" "likely benign" "" "0000524257" "0" "50" "5" "137217786" "137217786" "subst" "0" "01804" "MYOT_000053" "g.137217786G>A" "" "" "" "MYOT(NM_001135940.1):c.256G>A (p.(Asp86Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137882097G>A" "" "VUS" "" "0000524260" "0" "50" "5" "137221871" "137221871" "subst" "0.0000609335" "01804" "MYOT_000054" "g.137221871G>A" "" "" "" "MYOT(NM_006790.2):c.1159G>A (p.(Glu387Lys), p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137886182G>A" "" "VUS" "" "0000597487" "1" "90" "5" "137222576" "137222576" "subst" "0" "03441" "MYOT_000016" "g.137222576G>A" "" "{PMID:Izumi 2015:27066573}, Izumi 2020 (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.137886887G>A" "" "pathogenic" "" "0000609488" "0" "50" "5" "137203640" "137203640" "subst" "0" "02327" "MYOT_000055" "g.137203640C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137867951C>T" "" "VUS" "" "0000609489" "0" "70" "5" "137206548" "137206549" "ins" "0" "02327" "MYOT_000056" "g.137206548_137206549insG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137870859_137870860insG" "" "likely pathogenic" "" "0000609490" "0" "30" "5" "137206601" "137206601" "subst" "0.00000410816" "02327" "MYOT_000057" "g.137206601C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137870912C>A" "" "likely benign" "" "0000609491" "0" "30" "5" "137213242" "137213242" "subst" "0" "02327" "MYOT_000058" "g.137213242T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137877553T>C" "" "likely benign" "" "0000609492" "0" "30" "5" "137213271" "137213271" "subst" "0.0000446701" "02327" "MYOT_000059" "g.137213271G>A" "" "" "" "MYOT(NM_006790.2):c.594G>A (p.V198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137877582G>A" "" "likely benign" "" "0000609493" "0" "50" "5" "137217663" "137217668" "del" "0" "02327" "MYOT_000060" "g.137217663_137217668del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881974_137881979del" "" "VUS" "" "0000609494" "0" "50" "5" "137219114" "137219114" "subst" "0" "02327" "MYOT_000061" "g.137219114T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883425T>G" "" "VUS" "" "0000609495" "0" "50" "5" "137219115" "137219115" "subst" "0.0000081242" "02327" "MYOT_000062" "g.137219115G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883426G>A" "" "VUS" "" "0000609496" "0" "30" "5" "137219191" "137219191" "subst" "0.00000812209" "02327" "MYOT_000063" "g.137219191T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883502T>C" "" "likely benign" "" "0000609497" "0" "30" "5" "137219193" "137219193" "subst" "0" "02327" "MYOT_000064" "g.137219193G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883504G>A" "" "likely benign" "" "0000609498" "0" "30" "5" "137219237" "137219237" "subst" "0.000946262" "02326" "MYOT_000065" "g.137219237T>C" "" "" "" "MYOT(NM_006790.2):c.981T>C (p.N327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883548T>C" "" "likely benign" "" "0000609500" "0" "30" "5" "137226177" "137226177" "subst" "0" "01943" "MYOT_000066" "g.137226177G>A" "" "" "" "PKD2L2(NM_001258449.1):c.39G>A (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137890488G>A" "" "likely benign" "" "0000621475" "0" "30" "5" "137213248" "137213248" "subst" "0.000304561" "02326" "MYOT_000040" "g.137213248G>C" "" "" "" "MYOT(NM_006790.2):c.571G>C (p.G191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137877559G>C" "" "likely benign" "" "0000621476" "0" "30" "5" "137219264" "137219264" "subst" "0.00405306" "01943" "MYOT_000021" "g.137219264G>T" "" "" "" "MYOT(NM_006790.2):c.1008G>T (p.V336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137883575G>T" "" "likely benign" "" "0000621477" "0" "30" "5" "137222978" "137222978" "subst" "0.000251787" "01943" "MYOT_000035" "g.137222978T>C" "" "" "" "MYOT(NM_006790.2):c.1401T>C (p.N467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137887289T>C" "" "likely benign" "" "0000629486" "1" "70" "5" "137222923" "137222923" "del" "0" "00006" "MYOT_000067" "g.137222923del" "" "{PMID:Reddy 2017:27708273}" "" "1345delC" "" "Germline" "" "" "0" "" "" "g.137887234del" "" "likely pathogenic (dominant)" "" "0000646791" "1" "50" "5" "137206654" "137206654" "subst" "0" "00006" "MYOT_000068" "g.137206654C>T" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137870965C>T" "" "VUS" "" "0000646792" "1" "50" "5" "137206654" "137206654" "subst" "0" "00006" "MYOT_000068" "g.137206654C>T" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137870965C>T" "" "VUS" "" "0000655283" "0" "50" "5" "137211651" "137211651" "subst" "0.00000406204" "02326" "MYOT_000069" "g.137211651A>C" "" "" "" "MYOT(NM_006790.2):c.490A>C (p.K164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875962A>C" "" "VUS" "" "0000665334" "0" "70" "5" "137206519" "137206519" "subst" "0.00003692" "01164" "MYOT_000008" "g.137206519C>T" "" "" "" "" "ACMG grading: PS4,PM2,PP3; Orlacchio et al. 2011. J Neurol 258: 1361; Magariello et al. 2012. Nuscle 45: 919" "Germline" "" "rs121908458" "0" "" "" "g.137870830C>T" "" "likely pathogenic" "ACMG" "0000666089" "0" "70" "5" "137206510" "137206510" "del" "0" "03678" "MYOT_000070" "g.137206510del" "" "" "" "" "In silico tools support pathogenicity (CADD = 33.0)" "Germline/De novo (untested)" "" "" "0" "" "" "g.137870821del" "" "VUS" "" "0000670703" "1" "50" "5" "137222680" "137222680" "subst" "0.00000812249" "00006" "MYOT_000071" "g.137222680G>A" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.137886991G>A" "" "VUS" "" "0000677400" "0" "50" "5" "137221896" "137221896" "subst" "0" "02326" "MYOT_000072" "g.137221896G>A" "" "" "" "MYOT(NM_006790.2):c.1184G>A (p.R395Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677401" "0" "30" "5" "137222898" "137222898" "subst" "0.0000649894" "02326" "MYOT_000073" "g.137222898T>A" "" "" "" "MYOT(NM_006790.2):c.1325-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689433" "0" "30" "5" "137213294" "137213294" "subst" "0.000661945" "02326" "MYOT_000020" "g.137213294G>A" "" "" "" "MYOT(NM_006790.2):c.617G>A (p.G206D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697644" "0" "70" "5" "137206519" "137206519" "subst" "0.00003692" "00006" "MYOT_000008" "g.137206519C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "likely pathogenic" "" "0000697645" "0" "70" "5" "137211533" "137211533" "del" "0.00000406184" "00006" "MYOT_000075" "g.137211533del" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.137875844del" "" "likely pathogenic" "" "0000697646" "0" "70" "5" "137222995" "137222995" "subst" "0.00000406124" "00006" "MYOT_000076" "g.137222995T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.137887306T>C" "" "likely pathogenic" "" "0000698008" "1" "90" "5" "137206503" "137206503" "subst" "0" "00006" "MYOT_000074" "g.137206503T>C" "" "{PMID:Yis 2018:30838351}" "" "" "56kb region of homozygosity" "Germline" "" "" "0" "" "" "g.137870814T>C" "" "pathogenic (dominant)" "" "0000720187" "0" "50" "5" "137221871" "137221871" "subst" "0.0000609335" "02329" "MYOT_000054" "g.137221871G>A" "" "" "" "MYOT(NM_006790.2):c.1159G>A (p.(Glu387Lys), p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720188" "0" "30" "5" "137221909" "137221909" "subst" "0.000752651" "02326" "MYOT_000027" "g.137221909T>C" "" "" "" "MYOT(NM_006790.2):c.1190+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720189" "0" "50" "5" "137222990" "137222990" "subst" "0.0000243683" "02329" "MYOT_000017" "g.137222990G>T" "" "" "" "MYOT(NM_006790.2):c.1413G>T (p.L471F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801904" "0" "30" "5" "137213271" "137213271" "subst" "0.0000446701" "02326" "MYOT_000059" "g.137213271G>A" "" "" "" "MYOT(NM_006790.2):c.594G>A (p.V198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819194" "0" "70" "5" "137223000" "137223000" "subst" "0.00000812249" "00006" "MYOT_000077" "g.137223000C>T" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.137887311C>T" "" "likely pathogenic (dominant)" "ACMG" "0000833037" "1" "70" "5" "137206519" "137206519" "subst" "" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "likely pathogenic" "" "0000833095" "1" "70" "5" "137206504" "137206504" "subst" "" "00006" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.137870815C>T" "" "likely pathogenic" "" "0000833115" "1" "70" "5" "137206519" "137206519" "subst" "" "00006" "MYOT_000007" "g.137206519C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>G" "" "likely pathogenic" "" "0000833158" "1" "70" "5" "137206519" "137206519" "subst" "" "00006" "MYOT_000008" "g.137206519C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.137870830C>T" "" "likely pathogenic" "" ## 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 MYOT ## Count = 184 "{{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}}" "0000079500" "00014202" "00" "-8388608" "0" "8388607" "0" "c.-13375330_*8494211dup" "" "" "" "0000246313" "00014202" "10" "220" "0" "220" "0" "c.220=" "r.(=)" "p.(Gln74=)" "" "0000248254" "00014202" "10" "220" "0" "220" "0" "c.220=" "r.(=)" "p.(Gln74=)" "" "0000251142" "00014202" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "" "0000251343" "00014202" "10" "1190" "12" "1190" "12" "c.1190+12A>G" "r.(=)" "p.(=)" "" "0000251700" "00014202" "30" "220" "0" "220" "0" "c.220=" "r.(=)" "p.(Gln74=)" "" "0000252747" "00014202" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" "" "0000299869" "00014202" "10" "1008" "0" "1008" "0" "c.1008G>T" "r.(?)" "p.(Val336=)" "" "0000299870" "00014202" "30" "120" "0" "120" "0" "c.120T>A" "r.(?)" "p.(Ile40=)" "" "0000299871" "00014202" "30" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Asn467=)" "" "0000299872" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "" "0000299873" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "0000299874" "00014202" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "" "0000299875" "00014202" "10" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Ser210=)" "" "0000330527" "00014202" "50" "634" "-14" "634" "-10" "c.634-14_634-10del" "r.(=)" "p.(=)" "" "0000330528" "00014202" "50" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(Ser260=)" "" "0000344400" "00014202" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Cys47Tyr)" "" "0000349115" "00014202" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "0000438825" "00014202" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "0000439329" "00014202" "50" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442838" "00014202" "10" "1595" "0" "1595" "0" "c.*98G>A" "r.*98g>a" "p.(=)" "10" "0000442839" "00014202" "90" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Lys36Glu)" "2" "0000442840" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "0000442841" "00014202" "10" "-124" "0" "-124" "0" "c.-124T>G" "r.(?)" "p.(=)" "1" "0000442842" "00014202" "10" "1325" "-47" "1325" "-47" "c.1325-47T>C" "r.(=)" "p.(=)" "9i" "0000442843" "00014202" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "2" "0000442844" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442845" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442846" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442847" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442848" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.170c>u" "p.Thr57Ile" "2" "0000442849" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442850" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442851" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442852" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442853" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442854" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000442855" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442856" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442857" "00014202" "90" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442858" "00014202" "10" "-251" "0" "-251" "0" "c.-251A>G" "r.(?)" "p.(=)" "1" "0000442859" "00014202" "90" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Ser95Ile)" "2" "0000442860" "00014202" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "2" "0000442861" "00014202" "10" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Leu161Trp)" "3" "0000442862" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442863" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442864" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442865" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442866" "00014202" "90" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Lys36Glu)" "2" "0000442867" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "0000442869" "00014202" "90" "170" "0" "170" "0" "c.(170C>T)" "r.170c>u" "p.Thr57Ile" "2" "0000442870" "00014202" "90" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442871" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442872" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442873" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442874" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442875" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442876" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442877" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442878" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442879" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442880" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442881" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442882" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442883" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442884" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "0000442885" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "0000442886" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "0000442887" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442888" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442889" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442890" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442891" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442892" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442893" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000442894" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442895" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "0000442896" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000442897" "00014202" "50" "1413" "0" "1413" "0" "c.1413G>T" "r.(?)" "p.(Leu471Phe)" "10" "0000442898" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "0000442899" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "0000442900" "00014202" "50" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Asn108Thr)" "2" "0000442901" "00014202" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "2" "0000442902" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000442903" "00014202" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Gly206Asp)" "4" "0000442904" "00014202" "50" "1008" "0" "1008" "0" "c.1008G>T" "r.(?)" "p.(=)" "7" "0000442905" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.Arg405Lys" "9" "0000442906" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.Arg405Lys" "9" "0000442935" "00014202" "90" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6His)" "" "0000464645" "00014202" "50" "1413" "0" "1413" "0" "c.1413G>T" "r.(?)" "p.(Leu471Phe)" "10" "0000464646" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464647" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464648" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464649" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464650" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464651" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464652" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000464653" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000464654" "00014202" "50" "1398" "0" "1398" "0" "c.1398T>G" "r.(?)" "p.(=)" "10" "0000464655" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464656" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464657" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464658" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464659" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464660" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464661" "00014202" "50" "1083" "0" "1083" "0" "c.1083dup" "r.(?)" "p.(Glu362Argfs*25)" "8" "0000464662" "00014202" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Thr422Ile)" "9" "0000464663" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000464664" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464665" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000464666" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000464667" "00014202" "50" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Asn108Thr)" "2" "0000464668" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "0000464669" "00014202" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "5" "0000464670" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464671" "00014202" "50" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Gly191Arg)" "4" "0000464672" "00014202" "50" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485Cys)" "10" "0000464673" "00014202" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Val227Ile)" "5" "0000464674" "00014202" "50" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Thr86Lys)" "2" "0000464675" "00014202" "50" "1203" "0" "1203" "0" "c.1203T>A" "r.(?)" "p.(Asp401Glu)" "9" "0000464676" "00014202" "50" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000464677" "00014202" "50" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Val312Leu)" "7" "0000464678" "00014202" "50" "634" "-14" "634" "-10" "c.634-14_634-10del" "r.spl?" "p.(?)" "4i" "0000464679" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "0000464680" "00014202" "50" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464681" "00014202" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(Gln12Glu)" "2" "0000464682" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464683" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464684" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464685" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000464686" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464687" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464688" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000464689" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000464690" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "0000464691" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000464692" "00014202" "50" "1401" "0" "1401" "0" "c.1401T>A" "r.(?)" "p.(Asn467Lys)" "10" "0000464694" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "0000524251" "00014202" "50" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ser65Phe)" "" "0000524252" "00014202" "30" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Ala115Ser)" "" "0000524254" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "" "0000524255" "00014202" "30" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "" "0000524256" "00014202" "30" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000524257" "00014202" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Asp270Asn)" "" "0000524260" "00014202" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000597487" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "" "0000609488" "00014202" "50" "-214" "0" "-214" "0" "c.-214C>T" "r.(?)" "p.(=)" "" "0000609489" "00014202" "70" "208" "0" "209" "0" "c.208_209insG" "r.(?)" "p.(Pro70ArgfsTer21)" "" "0000609490" "00014202" "30" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Thr87=)" "" "0000609491" "00014202" "30" "565" "0" "565" "0" "c.565T>C" "r.(?)" "p.(Leu189=)" "" "0000609492" "00014202" "30" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Val198=)" "" "0000609493" "00014202" "50" "685" "0" "690" "0" "c.685_690del" "r.(?)" "p.(Arg230_Ser231del)" "" "0000609494" "00014202" "50" "858" "0" "858" "0" "c.858T>G" "r.(?)" "p.(Asn286Lys)" "" "0000609495" "00014202" "50" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "" "0000609496" "00014202" "30" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Val312Ala)" "" "0000609497" "00014202" "30" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Val313Ile)" "" "0000609498" "00014202" "30" "981" "0" "981" "0" "c.981T>C" "r.(?)" "p.(Asn327=)" "" "0000609500" "00014202" "30" "4600" "0" "4600" "0" "c.*3103G>A" "r.(=)" "p.(=)" "" "0000621475" "00014202" "30" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Gly191Arg)" "" "0000621476" "00014202" "30" "1008" "0" "1008" "0" "c.1008G>T" "r.(?)" "p.(Val336=)" "" "0000621477" "00014202" "30" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Asn467=)" "" "0000629486" "00014202" "70" "1346" "0" "1346" "0" "c.1346del" "r.(?)" "p.(Pro449Glnfs*16)" "" "0000646791" "00014202" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "" "0000646792" "00014202" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "" "0000655283" "00014202" "50" "490" "0" "490" "0" "c.490A>C" "r.(?)" "p.(Lys164Gln)" "" "0000665334" "00014202" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "0000666089" "00014202" "70" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Thr57Asnfs*2)" "" "0000670703" "00014202" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Ile)" "" "0000677400" "00014202" "50" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395Gln)" "" "0000677401" "00014202" "30" "1325" "-4" "1325" "-4" "c.1325-4T>A" "r.spl?" "p.?" "" "0000689433" "00014202" "30" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Gly206Asp)" "" "0000697644" "00014202" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "0000697645" "00014202" "70" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Ala125Leufs*5)" "" "0000697646" "00014202" "70" "1418" "0" "1418" "0" "c.1418T>C" "r.(?)" "p.(Val473Ala)" "" "0000698008" "00014202" "90" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Ser55Pro)" "" "0000720187" "00014202" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000720188" "00014202" "30" "1190" "7" "1190" "7" "c.1190+7T>C" "r.(=)" "p.(=)" "" "0000720189" "00014202" "50" "1413" "0" "1413" "0" "c.1413G>T" "r.(?)" "p.(Leu471Phe)" "" "0000801904" "00014202" "30" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Val198=)" "" "0000819194" "00014202" "70" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475Ter)" "" "0000833037" "00014202" "70" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "" "0000833095" "00014202" "70" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "" "0000833115" "00014202" "70" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "" "0000833158" "00014202" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 135 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000208837" "0000438825" "0000209083" "0000439329" "0000211353" "0000442838" "0000211354" "0000442839" "0000211355" "0000442840" "0000211356" "0000442841" "0000211357" "0000442842" "0000211358" "0000442843" "0000211359" "0000442844" "0000211360" "0000442845" "0000211361" "0000442846" "0000211362" "0000442847" "0000211363" "0000442848" "0000211364" "0000442849" "0000211365" "0000442850" "0000211366" "0000442851" "0000211367" "0000442852" "0000211368" "0000442853" "0000211369" "0000442854" "0000211370" "0000442855" "0000211371" "0000442856" "0000211372" "0000442857" "0000211373" "0000442858" "0000211374" "0000442859" "0000211375" "0000442860" "0000211376" "0000442861" "0000211377" "0000442862" "0000211378" "0000442863" "0000211379" "0000442864" "0000211380" "0000442865" "0000211381" "0000442866" "0000211382" "0000442867" "0000211384" "0000442869" "0000211385" "0000442870" "0000211386" "0000442871" "0000211387" "0000442872" "0000211388" "0000442873" "0000211389" "0000442874" "0000211390" "0000442875" "0000211391" "0000442876" "0000211392" "0000442877" "0000211393" "0000442878" "0000211394" "0000442879" "0000211395" "0000442880" "0000211396" "0000442881" "0000211397" "0000442882" "0000211398" "0000442883" "0000211399" "0000442884" "0000211400" "0000442885" "0000211401" "0000442886" "0000211402" "0000442887" "0000211403" "0000442888" "0000211404" "0000442889" "0000211405" "0000442890" "0000211406" "0000442891" "0000211406" "0000442892" "0000211407" "0000442893" "0000211407" "0000442894" "0000211408" "0000442895" "0000211409" "0000442896" "0000211410" "0000442897" "0000211411" "0000442898" "0000211412" "0000442899" "0000211413" "0000442900" "0000211414" "0000442901" "0000211415" "0000442902" "0000211416" "0000442903" "0000211417" "0000442904" "0000211446" "0000442935" "0000220605" "0000464645" "0000220677" "0000464646" "0000220728" "0000464647" "0000220728" "0000464648" "0000220768" "0000464649" "0000220770" "0000464650" "0000220779" "0000464651" "0000220851" "0000464652" "0000220866" "0000464653" "0000220877" "0000464654" "0000220947" "0000464655" "0000221042" "0000464656" "0000221057" "0000464657" "0000221131" "0000464658" "0000221131" "0000464659" "0000221214" "0000464660" "0000221218" "0000464661" "0000221236" "0000464662" "0000221294" "0000464663" "0000221341" "0000464664" "0000221376" "0000464665" "0000221431" "0000464666" "0000221552" "0000464667" "0000221552" "0000464668" "0000221916" "0000464669" "0000222010" "0000464670" "0000222020" "0000464671" "0000222265" "0000464672" "0000222457" "0000464673" "0000222470" "0000464674" "0000222509" "0000464675" "0000222549" "0000464676" "0000222617" "0000464677" "0000222738" "0000464678" "0000222778" "0000464679" "0000222870" "0000464680" "0000222974" "0000464681" "0000223030" "0000464682" "0000223062" "0000464683" "0000223081" "0000464684" "0000223082" "0000464685" "0000223092" "0000464686" "0000223215" "0000464687" "0000223223" "0000464688" "0000223258" "0000464689" "0000223423" "0000464690" "0000223491" "0000464691" "0000223577" "0000464692" "0000223724" "0000464694" "0000266664" "0000597487" "0000275470" "0000629486" "0000290167" "0000646791" "0000290168" "0000646792" "0000302219" "0000665334" "0000302740" "0000666089" "0000306886" "0000670703" "0000315555" "0000697644" "0000315556" "0000697645" "0000315557" "0000697646" "0000315903" "0000698008" "0000389923" "0000819194" "0000400230" "0000833037" "0000400288" "0000833095" "0000400308" "0000833115" "0000400351" "0000833158"