### LOVD-version 3000-21c ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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" "" "http://www.DMD.nl/myot_home.html" "" "1" "1" "12399" "9499" "604103" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "http://www.dmd.nl/nmdb2/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" "2018-12-27 17:12:40" "00006" "2019-03-08 15:14:19" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{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" "2015-12-07 07:11:25" "01449" "LGMD-1A" "dystrophy, muscular, limb-girdle, type 1A (LGMD-1A)" "159000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-06-19 22:10:51" "01562" "-" "myopathy, spheroid body" "182920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "02832" "MFM-3" "myopathy, myofibrillar, type 3 (MFM-3)" "609200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "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" "" "" ## 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 = 114 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207796" "" "" "" "1" "01164" "9" "01164" "2018-11-30 14:43:57" "00006" "2019-02-24 22:10:13" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208036" "" "" "" "1" "00006" "9" "00006" "2008-06-20 20:39:37" "00006" "2013-02-01 19:44:12" "{PMID:Bar 2007:17221859}" "" "" "" "France" "" "0" "" "" "Africa (N)" "?" "00210277" "" "" "" "7" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "{PMID:Godley 1999:10486214}" "" "" "" "Italy" "" "0" "" "" "" "" "00210278" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2012-03-09 19:08:25" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210279" "" "" "" "21" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "{PMID:Goebel 1974:00571956}" "21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117" "" "" "United States" "" "0" "" "" "" "" "00210280" "" "" "" "6" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "" "" "" "" "" "" "0" "" "" "" "" "00210281" "" "" "" "1" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "" "" "" "" "" "" "0" "" "" "" "" "00210282" "" "" "" "1" "00006" "9" "00006" "2006-02-17 19:58:08" "00006" "2013-02-01 19:44:12" "{PMID:Godley 1999:10486214}" "MDL/AML patient" "" "" "Italy" "" "0" "" "" "" "Pat38" "00210283" "" "" "" "4" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-03-04 15:57:47" "{PMID:Hauser 2002:12428213}, {OMIM604103:0002}" "4 affecteds 3-generation family" "" "" "Argentina" "" "0" "" "" "" "" "00210284" "" "" "" "2" "00006" "9" "00006" "2006-02-19 16:34:40" "00006" "2012-03-04 15:57:47" "{PMID:Selcen 2004:15111675}, {OMIM604103:0002}" "affected son and brother" "F" "" "United States" ">81y" "0" "" "" "" "Pat6" "00210285" "" "" "" "3" "00006" "9" "00006" "2006-02-26 20:56:32" "00006" "2012-03-09 19:08:25" "{PMID:Olive 2005:15947064}" "3 unrelated sporadic patients" "" "" "Spain" "" "0" "" "" "" "" "00210286" "" "" "" "8" "00006" "9" "00006" "2006-02-26 21:00:44" "00006" "2013-02-01 19:44:12" "{PMID:Olive 2005:15947064}" "8 affected 4 generation family" "" "" "Spain" "" "0" "" "" "" "Fam1" "00210287" "" "" "" "1" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "{PMID:Hauser 2000:10958653}, {OMIM604103:0001}" "large north American family (German descent)" "" "" "United States" "" "0" "" "" "white" "" "00210288" "" "" "" "1" "00006" "9" "00006" "2006-02-17 17:45:30" "00006" "2012-03-09 19:08:25" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "F" "" "United States" ">53y" "0" "" "" "" "Pat1" "00210289" "" "" "" "1" "00006" "9" "00006" "2006-02-19 16:25:42" "00006" "2012-03-09 19:08:25" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "M" "" "United States" ">61y" "0" "" "" "" "Pat2" "00210290" "" "" "" "1" "00006" "9" "00006" "2006-02-19 16:27:34" "00006" "2012-03-04 15:57:47" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "M" "" "United States" ">76y" "0" "" "" "" "Pat3" "00210291" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:01:35" "00006" "2012-03-09 19:08:25" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210292" "" "" "" "6" "00006" "9" "00006" "2006-02-26 21:04:08" "00006" "2013-02-01 19:44:12" "{PMID:Olive 2005:15947064}" "6 affecteds 5 generation family" "F;M" "" "Spain" "" "0" "" "" "" "Fam2" "00210293" "" "" "" "2" "00006" "9" "00006" "2006-02-26 21:06:33" "00006" "2012-03-04 15:57:47" "{PMID:Olive 2005:15947064}" "2 brothers" "M" "" "Spain" ">81y" "0" "" "" "" "Fam3" "00210294" "" "" "" "1" "00006" "9" "00006" "2006-02-17 17:48:41" "00006" "2012-03-09 19:08:25" "{PMID:Selcen 2004:15111675}, {OMIM604103:0004}" "" "M" "" "United States" ">80y" "0" "" "" "" "Pat4" "00210295" "" "" "" "1" "00006" "9" "00006" "2006-02-26 20:54:42" "00006" "2012-03-09 19:08:25" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210296" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:12:14" "00006" "2012-03-09 19:08:25" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210297" "" "" "" "1" "00006" "9" "00006" "2006-02-17 19:55:12" "00006" "2013-02-01 19:44:12" "{PMID:Godley 1999:10486214}" "MDL/AML patient" "" "" "Italy" "" "0" "" "" "" "Pat32" "00210298" "" "" "" "1" "00006" "9" "00006" "2006-02-17 17:50:14" "00006" "2013-02-01 19:44:12" "{PMID:Selcen 2004:15111675}, {OMIM604103:0005}" "" "M" "" "United States" ">87y" "0" "" "" "" "Pat5" "00210299" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:15:31" "00006" "2013-02-01 19:44:12" "{PMID:Olive 2005:15947064}" "found in relative of MFM patient" "" "" "Spain" "" "0" "" "" "" "" "00210300" "" "" "" "6" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "" "" "" "" "" "" "0" "" "" "" "" "00210301" "" "" "00210302" "1" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:24:04" "{PMID:Berciano 2008:17698502}" "uncle of 17698502.III2" "M" "" "Spain" ">76y" "0" "" "" "" "17698502.II3" "00210302" "" "" "" "11" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:25:02" "{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" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:25:25" "{PMID:Berciano 2008:17698502}" "5 generation family, 3 affecteds" "" "" "Spain" "" "0" "" "" "" "" "00210304" "" "" "00210302" "6" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:25:44" "{PMID:Berciano 2008:17698502}" "5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y)" "" "" "" "" "0" "" "" "" "" "00210305" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2013-02-01 19:44:12" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210306" "" "" "" "1" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "" "" "" "United States" "" "0" "" "" "" "" "00210308" "" "" "" "1" "00006" "9" "00006" "2011-09-30 19:14:59" "00006" "2013-02-01 19:44:12" "{PMID:Garvey 2006:16801328}" "" "" "" "" "" "0" "" "" "" "mouse" "00210309" "" "" "" "1" "00006" "9" "00006" "2006-02-26 21:12:14" "00006" "2013-02-01 19:44:12" "{PMID:Olive 2005:15947064}" "" "" "" "Spain" "" "0" "" "" "" "" "00210310" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "{PMID:McNeill 2009:19590214}" "daugther of 19590214-PatAf" "F" "" "(United Kingdom (Great Britain))" ">43y" "0" "" "" "" "19590214-PatA" "00210311" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "father of 19590214-PatA" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatAf" "00210312" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">57y" "0" "" "" "" "19590214-PatB" "00210313" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">59y" "0" "" "" "" "19590214-PatC" "00210314" "" "" "" "4" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:16:28" "{PMID:McNeill 2009:19590214}" "3-generation family, affected male" "M" "" "(United Kingdom (Great Britain))" ">68y" "0" "" "" "" "19590214-PatD" "00210315" "" "" "00210314" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:16:57" "{PMID:McNeill 2009:19590214}" "brother of 19590214-PatD" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDb" "00210316" "" "" "00210314" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:17:22" "{PMID:McNeill 2009:19590214}" "child of 19590214-PatD" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDc1" "00210317" "" "" "00210314" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:17:43" "{PMID:McNeill 2009:19590214}" "child of 19590214-PatD" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatDc2" "00210318" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">81y" "0" "" "" "" "19590214-PatE" "00210319" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "{PMID:McNeill 2009:19590214}" "" "M" "" "(United Kingdom (Great Britain))" ">66y" "0" "" "" "" "19590214-PatF" "00210320" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "father of 19590214-PatF" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "19590214-PatFf" "00210321" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "" "F" "" "(United Kingdom (Great Britain))" ">67y" "0" "" "" "" "19590214-PatG" "00210322" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:McNeill 2009:19590214}" "mother difficulty walking mid-60s" "M" "" "(United Kingdom (Great Britain))" ">85y" "0" "" "" "" "19590214-PatH" "00210323" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "{PMID:Shalaby 2009:19458539}" "" "F" "" "Japan" "" "0" "" "" "" "19458539-Pat1" "00210324" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:Shalaby 2009:19458539}" "father of 19458539-Pat1" "M" "" "Japan" "" "0" "" "" "" "19458539-Pat1f" "00210325" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "{PMID:Shalaby 2009:19458539}" "elder sister of 19458539-Pat1" "F" "" "Japan" "" "0" "" "" "" "19458539-Pat1s" "00210326" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "{PMID:Gamez 2009:19027924}" "" "M" "" "Spain" "" "0" "" "" "" "19027924-Pat1" "00210327" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "{PMID:Gamez 2009:19027924}" "father of 19027924-Pat1" "M" "" "Spain" "71y" "0" "" "" "" "19027924-Pat1f" "00210328" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "{PMID:Gamez 2009:19027924}" "brother of 19027924-Pat1" "M" "" "Spain" "" "0" "" "" "" "19027924-Pat1b" "00210329" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "{PMID:Gamez 2009:19027924}" "aunt of 19027924-Pat1" "F" "" "Spain" "" "0" "" "" "" "19027924-Pat1a" "00210330" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "{PMID:Claeys 2008:18653338}" "" "M" "" "" ">71y" "0" "" "" "" "18653338-Pat18" "00210331" "" "" "" "1" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "{PMID:Claeys 2008:18653338}" "" "M" "" "" ">62y" "0" "" "" "" "18653338-Pat19" "00210332" "" "" "" "6" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "see also {PMID:Penisson-Besniers 1998:09829275}" "3-generation family, 4 affecteds, 2 asymptomatic carriers" "" "" "France" "" "0" "" "" "" "16793270-Fam" "00210333" "" "" "" "1" "00464" "9" "00006" "2011-09-19 19:15:51" "00006" "2013-02-01 19:44:12" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00210334" "" "" "" "1" "00464" "9" "00006" "2011-09-19 19:18:35" "00006" "2013-02-01 19:44:12" "" "" "" "" "United States" "" "0" "" "" "" "" "00210335" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210336" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210337" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210338" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210339" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210340" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210341" "" "" "" "1" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210370" "" "" "" "1" "00006" "9" "00006" "2018-12-27 19:31:31" "" "" "{PMID:Reilich 2011:21336781}" "" "F" "" "Turkey" "" "0" "" "" "" "21336781" "00219534" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219606" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219657" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219697" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219699" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219708" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219780" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219795" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219806" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219876" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219971" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219986" "" "" "" "1" "00430" "9" "00006" 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"{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222010" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222011" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222021" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222144" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222152" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222187" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222352" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222420" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222506" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222653" "" "" "" "1" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 113 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Count = 68 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Pancreas/Insufficiency}}" "{{Phenotype/Scalp/Defects}}" "{{Phenotype/Anorectum/Anomalies}}" "{{Phenotype/Genitals/Malformations}}" "{{Phenotype/Hypothyroidism}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Malformations/Other}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Heart/Defects}}" "{{Phenotype/Teeth/Oligodontia}}" "{{Phenotype/Brain/Corpus_Callosum/Agenesis}}" "{{Phenotype/Behavior/Abnormality}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/OFC_at_birth_SDS}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Brain_MRI}}" "{{Phenotype/Choanal_stenosis}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Elbow/Dislocated}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Extremities/Epiphyses/Cone_shaped}}" "{{Phenotype/Extremities/Nails/Small}}" "{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}" "{{Phenotype/Extremities/Phalanges/Distal/Prominent}}" "{{Phenotype/Extremities/Phalanges/Hypoplasia}}" "{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}" "{{Phenotype/Facial/Ears/Abnormal}}" "{{Phenotype/Facial/Ears/Tags}}" "{{Phenotype/Facial/Mouth/Wide}}" "{{Phenotype/Facial/Nose/Bridge}}" "{{Phenotype/Facial/Nose/Anteverted}}" "{{Phenotype/Facial/Philtrum/Length}}" "{{Phenotype/Facial/Philtrum/Width}}" "{{Phenotype/Facial/Ptosis}}" "{{Phenotype/Facial/Eyebrows/Density}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Feeding/Problems/Duration}}" "{{Phenotype/Feeding/Problems/Start}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Growth}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Hair/Scalp}}" "{{Phenotype/Hearing/Other}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Hypertrichosis}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}" "{{Phenotype/Intestinal/Stenosis_Pyloric}}" "{{Phenotype/Joint/Laxity}}" "{{Phenotype/Malformations/Cardiac}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Intestine/Abnormality}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}" "{{Phenotype/Pectus_excavatum}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Seizures}}" "{{Phenotype/Seizures/Age/Onset}}" "{{Phenotype/Seizures/Frequency}}" "{{Phenotype/Seizures/Type}}" "{{Phenotype/Skin/Cutis_marmorata}}" "{{Phenotype/Skin/Eczema}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Patella/Small}}" "{{Phenotype/Vision/Astigmatism}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Development/Speech}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Examined/Last}}" "{{Phenotype/Teeth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Severity_score}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hemihypertrophy/HPO_0001528}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}" "{{Phenotype/Facial/Nose}}" "{{Phenotype/Arms_short/HPO_0009824}}" "{{Phenotype/Limbs_short/HPO_0006385}}" "{{Phenotype/Craniosynostosis/HPO_1363}}" "{{Phenotype/Osteopenia/HPO_0000938}}" "{{Phenotype/Epiphyses_smal/HPO_0010585}}" "{{Phenotype/Metaphyses_irregular/HPO_0003025}}" "{{Phenotype/Macrosomia/HPO_0001520}}" "{{Phenotype/Macroglossia/HPO_0000158}}" "{{Phenotype/Abdominal_wall_defect/HPO_0010866}}" "{{Phenotype/Hypoglycemia/HPO_0001943}}" "{{Phenotype/Tumor}}" "{{Phenotype/Karyotype}}" "{{Phenotype/Organomegaly}}" "{{Phenotype/Heart/Abnormality}}" "{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}" "{{Phenotype/Fever_episodic/HPO_0001954}}" "{{Phenotype/Dehydration/HPO_0001944}}" "{{Phenotype/Cyanosis/HPO_0000961}}" "{{Phenotype/Swallowing_poor/HPO_0002015}}" "{{Phenotype/Camptodactyly/HPO_0012385}}" "{{Phenotype/Cheeks_full/HPO_0000293}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Palate_high/HPO_0000218}}" "{{Phenotype/Sweating/Cold_induced}}" "{{Phenotype/Contractures/Joints_large/HPO_0005781}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Neuropathy_peripheral/HPO_0009830}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Family/Criteria}}" "{{Phenotype/Family/History}}" "{{Phenotype/BleedingScore}}" "{{Phenotype/BleedingScore/Tool}}" "{{Phenotype/Sub_type}}" "{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}" "{{Phenotype/Hand/Small/HPO_0200055}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}" "{{Phenotype/Placentomegaly}}" "{{Phenotype/Prenatal}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hirsutism/Forehead/HPO_0011335}}" "{{Phenotype/Blepharophimosis/HPO_0000581}}" "{{Phenotype/Facial/Lips}}" "{{Phenotype/Facial/Micrognathia/HPO_0000347}}" "{{Phenotype/Neck/Webbed/HPO_0000465}}" "{{Phenotype/Laryngomalacia/HPO_0001601}}" "{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}" "{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}" "{{Phenotype/Diastasis_recti/HPO_0001540}}" "{{Phenotype/Hip/Coxa_valga/HPO_0002673}}" "{{Phenotype/Orbits/Shallow/HPO_0000586}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Kidney/Disease}}" "{{Phenotype/Cysts}}" "{{Phenotype/Aneurysm}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Hematuria/HPO_0000790}}" "{{Phenotype/Nephrolithiasis/HPO_0000787}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Kidney/Size}}" "{{Phenotype/Dilatation}}" "{{Phenotype/Sleep}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Umbilicus}}" "{{Phenotype/Eye}}" "{{Phenotype/Creatinine/Level}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{Phenotype/Severity}}" "{{Phenotype/Abnormality}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Inclusion}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Protein/Multimer_profile}}" "{{Phenotype/DTI_Tractography}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Reproduction/Abnormal/Physiology}}" "{{Phenotype/Testis/Abnormal}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Skin}}" "{{Phenotype/Finger_Toe/Abnormal}}" "{{Phenotype/Urine}}" "{{Phenotype/Hair/Pigmentation}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155579" "00198" "00207796" "01164" "9" "01164" "2018-11-30 14:43:57" "00006" "2018-12-27 17:36:16" "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" "9" "00006" "2008-06-20 20:39:37" "00006" "2013-02-01 19:44:12" "Unknown" "" "progressive cardiac and skeletal myopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-1" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158843" "00000" "00210277" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158844" "05299" "00210278" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158845" "05299" "00210279" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "Unknown" "" "phenotype called SBM (spheroid body myopathy)" "" "" "" "" "" "" "" "" "" "30y-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158846" "00000" "00210280" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158847" "00000" "00210281" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158848" "00000" "00210282" "00006" "9" "00006" "2006-02-17 19:58:08" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158849" "05126" "00210283" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-03-04 15:57:47" "Familial" "" "raised CPK level (HP:0003236) 5x-15x" "" "" "" "" "" "" "" "" "" "42y-58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158850" "05299" "00210284" "00006" "9" "00006" "2006-02-19 16:34:40" "00006" "2012-03-04 15:57:47" "Familial" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "" "" "" "" "" "" "" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158851" "05299" "00210285" "00006" "9" "00006" "2006-02-26 20:56:32" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158852" "05299" "00210286" "00006" "9" "00006" "2006-02-26 21:00:44" "00006" "2013-02-01 19:44:12" "Unknown" "" "raised CPK level (HP:0003236) 2x" "" "" "" "" "" "" "" "" "" "48y-52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158853" "05126" "00210287" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158854" "05299" "00210288" "00006" "9" "00006" "2006-02-17 17:45:30" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "raised CPK level (HP:0003236) 2x" "" "" "" "" "" "" "" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158855" "05299" "00210289" "00006" "9" "00006" "2006-02-19 16:25:42" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "raised CPK level (HP:0003236) 2x" "" "" "" "" "" "" "" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158856" "05299" "00210290" "00006" "9" "00006" "2006-02-19 16:27:34" "00006" "2012-03-04 15:57:47" "Familial" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "" "" "" "" "" "" "" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158857" "05299" "00210291" "00006" "9" "00006" "2006-02-26 21:01:35" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158858" "05299" "00210292" "00006" "9" "00006" "2006-02-26 21:04:08" "00006" "2013-02-01 19:44:12" "Unknown" "" "cardiomyopathy" "" "" "" "" "" "" "" "" "" "58y-60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158859" "05299" "00210293" "00006" "9" "00006" "2006-02-26 21:06:33" "00006" "2012-03-04 15:57:47" "Familial" "" "no raised CPK level (-HP:0003236) normal / ?" "" "" "" "" "" "" "" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158860" "05299" "00210294" "00006" "9" "00006" "2006-02-17 17:48:41" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "cardiomyopathy; no raised CPK level (-HP:0003236) normal" "" "" "" "" "" "" "" "" "" "77y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158861" "05299" "00210295" "00006" "9" "00006" "2006-02-26 20:54:42" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158862" "05299" "00210296" "00006" "9" "00006" "2006-02-26 21:12:14" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158863" "00000" "00210297" "00006" "9" "00006" "2006-02-17 19:55:12" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158864" "05299" "00210298" "00006" "9" "00006" "2006-02-17 17:50:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "raised CPK level (HP:0003236) 2x" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "0000158865" "00000" "00210299" "00006" "9" "00006" "2006-02-26 21:15:31" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158866" "00000" "00210300" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158867" "05299" "00210301" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "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" "9" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "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" "9" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "Unknown" "" "late-onset, distal lower-limb weakness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158870" "00000" "00210304" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2013-02-01 19:44:12" "Unknown" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158871" "00000" "00210305" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158872" "00000" "00210306" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158874" "05126" "00210308" "00006" "9" "00006" "2011-09-30 19:14:59" "00006" "2013-02-01 19:44:12" "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" "9" "00006" "2006-02-26 21:12:14" "00006" "2013-02-01 19:44:12" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158876" "05299" "00210310" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "distal myopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158878" "05299" "00210312" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "Familial" "" "distal arm/leg weakness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158882" "00000" "00210316" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158883" "00000" "00210317" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158884" "05299" "00210318" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "late-onset muscle weakness, wheelchair bound 64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158887" "05299" "00210321" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158891" "05126" "00210325" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "Familial" "" "original diagnosis sporadic inclusion body myositis; raised CPK level (HP:0003236) >2x" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158892" "05299" "00210326" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:47" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-09 19:08:25" "Isolated (sporadic)" "" "gait disorder similar to son" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158894" "05299" "00210328" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "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" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "Familial" "" "EMG myopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158896" "05299" "00210330" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158897" "05299" "00210331" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2013-02-01 19:44:12" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158898" "05299" "00210332" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-03-04 15:57:48" "Familial" "" "CPK level 1-2x" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MFM-3" "myotilinopathy" "" "" "" "" "" "" "" "" "" "" "0000158899" "05126" "00210333" "00464" "9" "00006" "2011-09-19 19:15:51" "00006" "2013-02-01 19:44:12" "Unknown" "" "proximal and distal weakenss (LE>UE); facial weakness; raised CPK level (HP:0003236)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158900" "05126" "00210334" "00464" "9" "00006" "2011-09-19 19:18:35" "00006" "2013-02-01 19:44:12" "Unknown" "" "limb girdle weakness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "0000158901" "00198" "00210335" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158902" "00198" "00210336" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158903" "00198" "00210337" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158904" "00198" "00210338" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158905" "00198" "00210339" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158906" "00198" "00210340" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158907" "00198" "00210341" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000158936" "05126" "00210370" "00006" "9" "00006" "2018-12-27 19:33:01" "" "" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "LGMD-1A" "limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 114 "{{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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{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" ## 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 = 137 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2019-04-09 08:53:20" "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" "" "" "" "" "0000246313" "0" "10" "5" "137206560" "137206560" "subst" "33" "0.985161" "02330" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT:c.220A>C (K74Q)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000248254" "0" "10" "5" "137206560" "137206560" "subst" "33" "0.985161" "02325" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT:c.220A>C (K74Q)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000251142" "0" "10" "5" "137206489" "137206489" "subst" "33" "0.0256805" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:32:53" "MYOT_000010" "g.137206489A>G" "" "" "" "MYOT:c.149A>G (Q50R)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000251343" "0" "10" "5" "137221914" "137221914" "subst" "33" "0.0000768994" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000034" "g.137221914A>G" "" "" "" "MYOT:c.1190+12A>G" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000251700" "0" "30" "5" "137206560" "137206560" "subst" "33" "0.985161" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000030" "g.137206560A>C" "" "" "" "MYOT:c.220A>C (K74Q)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000252747" "0" "50" "5" "137211688" "137211688" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:01" "MYOT_000025" "g.137211688A>G" "" "" "" "MYOT:c.527A>G (N176S)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299869" "0" "10" "5" "137219264" "137219264" "subst" "33" "0.00253729" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:33:34" "MYOT_000021" "g.137219264G>T" "" "" "" "MYOT:c.1008G>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299870" "0" "30" "5" "137206460" "137206460" "subst" "33" "0.000691988" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:28:08" "MYOT_000023" "g.137206460T>A" "" "" "" "MYOT:c.120T>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299871" "0" "30" "5" "137222978" "137222978" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000035" "g.137222978T>C" "" "" "" "MYOT:c.1401T>C (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299873" "0" "90" "5" "137206519" "137206519" "subst" "33" "0.0000768876" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "" "" "MYOT:c.179C>T (S60F)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299874" "0" "30" "5" "137206683" "137206683" "subst" "33" "0.000922651" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:33:57" "MYOT_000014" "g.137206683G>A" "" "" "" "MYOT:c.343G>A (A115T)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000299875" "0" "10" "5" "137213307" "137213307" "subst" "33" "0.0000768876" "02326" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:34" "MYOT_000032" "g.137213307G>A" "" "" "" "MYOT:c.630G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000330528" "0" "30" "5" "137217758" "137217758" "subst" "33" "0.0166077" "01804" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:01" "MYOT_000026" "g.137217758G>A" "" "" "" "MYOT:NM_001135940.1:c.228G>A, NM_006790.2:c.780G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000330529" "0" "30" "5" "137221909" "137221909" "subst" "33" "0.00330667" "01804" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:01" "MYOT_000027" "g.137221909T>C" "" "" "" "MYOT:NM_001135940.1:c.638+7T>C, NM_001258448.1:c.-3272T>C, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000330530" "0" "50" "5" "137222688" "137222688" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:01" "MYOT_000028" "g.137222688T>C" "" "" "" "MYOT:NM_001135940.1:c.772+2T>C, NM_001258448.1:c.-2493T>C, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000344400" "0" "50" "5" "137206480" "137206480" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00006" "2018-12-27 17:27:01" "MYOT_000029" "g.137206480G>A" "" "" "" "MYOT:NM_006790.2:c.140G>A (Cys47Tyr)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000438825" "0" "70" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "01164" "9" "01164" "2018-11-30 14:43:57" "00006" "2018-12-27 17:37:21" "MYOT_000008" "g.137206519C>T" "" "" "" "" "ACMG grading: PM2,PP1,PS4,PM1" "Germline" "" "rs121908458" "0" "" "" "" "" "0000439329" "3" "50" "5" "137206560" "137206560" "subst" "0" "0" "00006" "9" "00006" "2018-12-07 13:28:55" "00006" "2018-12-27 17:34:40" "MYOT_000013" "g.137206560C>A" "" "{PMID:Bar 2007:17221859}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "0000442838" "1" "10" "5" "137223172" "137223172" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-11-02 20:42:57" "MYOT_000002" "g.137223172G>A" "7/54" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "rs4288" "0" "" "" "" "" "0000442839" "1" "90" "5" "137206446" "137206446" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2018-12-27 19:20:04" "MYOT_000012" "g.137206446A>G" "" "{PMID:Olive 2005:15947064}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442840" "1" "90" "5" "137206456" "137206456" "subst" "0" "0" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2018-12-27 19:20:04" "MYOT_000011" "g.137206456C>T" "" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "BbsI-" "" "control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442841" "1" "10" "5" "137206217" "137206217" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-11-02 20:42:57" "MYOT_000004" "g.137206217T>G" "6/50" "" "" "" "sequence comparison" "Germline" "" "" "0" "" "" "" "" "0000442842" "1" "10" "5" "137222855" "137222855" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-11-02 20:42:57" "MYOT_000006" "g.137222855T>C" "0.01" "" "" "" "" "Germline" "" "rs3764812" "0" "" "" "" "" "0000442843" "1" "10" "5" "137206489" "137206489" "subst" "0" "0.0256805" "00006" "9" "00006" "2006-02-17 19:58:08" "00006" "2012-11-02 20:42:57" "MYOT_000010" "g.137206489A>G" "" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442844" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Hauser 2002:12428213}, {OMIM604103:0002}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442845" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2006-02-19 16:34:40" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0002}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442846" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 20:56:32" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442847" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:00:44" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442848" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2018-12-27 19:20:04" "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" "" "" "" "" "0000442849" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-17 17:45:30" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "" "" "0000442850" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-19 16:25:42" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "" "" "0000442851" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-19 16:27:34" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0003}" "" "459C>G" "" "Germline" "" "" "0" "" "" "" "" "0000442852" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:01:35" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442853" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:04:08" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442854" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:06:33" "00006" "2018-12-27 19:20:04" "MYOT_000007" "g.137206519C>G" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442855" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2006-02-17 17:48:41" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0004}" "" "459C>T" "" "Germline" "" "" "0" "" "" "" "" "0000442856" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2006-02-26 20:54:42" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442857" "1" "90" "5" "137206560" "137206560" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:12:14" "00006" "2018-12-27 19:20:04" "MYOT_000013" "g.137206560C>A" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442858" "1" "10" "5" "137203603" "137203603" "subst" "0" "0" "00006" "9" "00006" "2006-02-17 19:55:12" "00006" "2012-11-02 20:42:57" "MYOT_000015" "g.137203603A>G" "" "{PMID:Godley 1999:10486214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442859" "1" "90" "5" "137206624" "137206624" "subst" "0" "0" "00006" "9" "00006" "2006-02-17 17:50:14" "00006" "2018-12-27 19:20:04" "MYOT_000009" "g.137206624G>T" "" "{PMID:Selcen 2004:15111675}, {OMIM604103:0005}" "" "564G>T" "" "Germline" "" "" "0" "" "" "" "" "0000442860" "1" "10" "5" "137206683" "137206683" "subst" "0" "0.000922651" "00006" "9" "00006" "2006-02-26 21:15:31" "00006" "2012-11-02 20:42:57" "MYOT_000014" "g.137206683G>A" "" "{PMID:Olive 2005:15947064}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442861" "1" "10" "5" "137211643" "137211643" "subst" "0" "0" "00006" "9" "00006" "2002-12-12 14:00:14" "00006" "2012-11-02 20:42:57" "MYOT_000005" "g.137211643T>G" "6/31" "" "" "" "sequence comparison" "Germline" "" "" "0" "" "" "" "" "0000442862" "11" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442863" "11" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442864" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:27:12" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442865" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2008-09-28 22:39:02" "00006" "2018-12-27 19:27:34" "MYOT_000003" "g.137206504C>T" "" "{PMID:Berciano 2008:17698502}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442866" "1" "90" "5" "137206446" "137206446" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:09:49" "00006" "2018-12-27 19:20:04" "MYOT_000012" "g.137206446A>G" "0/200" "{PMID:Olive 2005:15947064}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442867" "1" "90" "5" "137206456" "137206456" "subst" "0" "0" "00006" "9" "00006" "2006-02-19 16:48:50" "00006" "2018-12-27 19:20:04" "MYOT_000011" "g.137206456C>T" "0/270" "{PMID:Foroud 2005:16380616}, {OMIM604103:0006}" "BbsI-" "" "control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442869" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00006" "9" "00006" "2011-09-30 19:14:59" "00006" "2018-12-27 19:20:04" "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" "" "" "" "" "0000442870" "1" "90" "5" "137206560" "137206560" "subst" "0" "0" "00006" "9" "00006" "2006-02-26 21:12:14" "00006" "2018-12-27 19:20:04" "MYOT_000013" "g.137206560C>A" "0/200" "{PMID:Olive 2005:15947064}" "" "" "control chomosomes" "Germline" "" "" "0" "" "" "" "" "0000442871" "11" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442872" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442873" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442874" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442875" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442876" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442877" "11" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:19:05" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442878" "11" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:18:35" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442879" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442880" "11" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442881" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442882" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442883" "20" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:McNeill 2009:19590214}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442884" "11" "90" "5" "137222576" "137222576" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442885" "1" "90" "5" "137222576" "137222576" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442886" "11" "90" "5" "137222576" "137222576" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442887" "11" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442888" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442889" "11" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442890" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Gamez 2009:19027924}" "" "444C>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "0000442891" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:Claeys 2008:18653338}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442892" "0" "10" "5" "137206560" "137206560" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-11-02 20:42:57" "MYOT_000013" "g.137206560C>A" "" "{PMID:Claeys 2008:18653338}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442893" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000008" "g.137206519C>T" "" "{PMID:Claeys 2008:18653338}" "" "" "unrelated patients" "Germline" "" "" "0" "" "" "" "" "0000442894" "0" "10" "5" "137206560" "137206560" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2012-11-02 20:42:57" "MYOT_000013" "g.137206560C>A" "" "{PMID:Claeys 2008:18653338}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442895" "1" "90" "5" "137206504" "137206504" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 19:20:04" "MYOT_000003" "g.137206504C>T" "" "{PMID:Penisson-Besniers 2006:16793270}" "" "444C>T" "" "Germline" "" "" "0" "" "" "" "" "0000442896" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00464" "9" "00006" "2011-09-19 19:15:51" "00006" "2018-12-27 19:20:04" "MYOT_000001" "g.137206510C>T" "" "" "" "" "" "Germline" "" "rs28937597" "0" "" "" "" "" "0000442897" "0" "50" "5" "137222990" "137222990" "subst" "0" "0.0000768876" "00464" "9" "00006" "2011-09-19 19:18:35" "00006" "2012-11-02 20:42:57" "MYOT_000017" "g.137222990G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000442898" "0" "90" "5" "137206456" "137206456" "subst" "0" "0" "00430" "9" "00006" "2012-10-26 14:31:00" "00006" "2018-12-27 19:20:04" "MYOT_000011" "g.137206456C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442899" "0" "10" "5" "137206560" "137206560" "subst" "0" "0" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000013" "g.137206560C>A" "" "from website {DBsub-Emory}" "" "220A>C" "" "Unknown" "" "" "0" "" "" "" "" "0000442900" "0" "50" "5" "137206663" "137206663" "subst" "0" "0.000230663" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000018" "g.137206663A>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442901" "0" "10" "5" "137206683" "137206683" "subst" "0" "0.000922651" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000014" "g.137206683G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442902" "0" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000019" "g.137211606G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442903" "0" "50" "5" "137213294" "137213294" "subst" "0" "0" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000020" "g.137213294G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442904" "0" "50" "5" "137219264" "137219264" "subst" "0" "0.00253729" "00430" "9" "00006" "2012-10-26 14:31:00" "" "" "MYOT_000021" "g.137219264G>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "0000442905" "0" "90" "5" "137222576" "137222576" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 17:38:08" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "in vitro expression coIP reduced homodimerization" "In vitro (cloned)" "" "" "0" "" "" "" "" "0000442906" "0" "90" "5" "137222576" "137222576" "subst" "0" "0" "00006" "9" "00006" "2009-12-31 16:05:02" "00006" "2018-12-27 17:38:08" "MYOT_000016" "g.137222576G>A" "" "{PMID:Shalaby 2009:19458539}" "" "" "YTH defective homodimerization, decreased interaction with alpha-actinin" "In vitro (cloned)" "" "" "0" "" "" "" "" "0000442935" "0" "90" "5" "137206357" "137206357" "subst" "0" "0" "00006" "9" "00006" "2018-12-27 19:34:50" "" "" "MYOT_000036" "g.137206357G>A" "" "{PMID:Reilich 2011:21336781}" "" "n.17G>A" "not in 210 control chromosomes" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "0000464645" "1" "50" "5" "137222990" "137222990" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000017" "g.137222990G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in MYOT" "Germline" "" "" "0" "" "" "" "" "0000464646" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464647" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464648" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464649" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis MYOT-related muscular dystrophy" "Germline" "" "" "0" "" "" "" "" "0000464650" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "" "" "0000464651" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464652" "1" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464653" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "" "" "0000464654" "1" "50" "5" "137222975" "137222975" "subst" "0" "0.000153775" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000048" "g.137222975T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464655" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464656" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464657" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464658" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464659" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464660" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464661" "1" "50" "5" "137221795" "137221795" "dup" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000045" "g.137221795dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1083dupA" "" "Germline" "" "" "0" "" "" "" "" "0000464662" "1" "50" "5" "137222627" "137222627" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000047" "g.137222627C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in MYOT" "Germline" "" "" "0" "" "" "" "" "0000464663" "1" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464664" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464665" "1" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464666" "1" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464667" "1" "50" "5" "137206663" "137206663" "subst" "0" "0.000230663" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000018" "g.137206663A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464668" "1" "50" "5" "137211606" "137211606" "subst" "0" "0.0018453" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000019" "g.137211606G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464669" "1" "50" "5" "137216527" "137216527" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000042" "g.137216527G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464670" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464671" "1" "50" "5" "137213248" "137213248" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000040" "g.137213248G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464672" "1" "50" "5" "137223030" "137223030" "subst" "0" "0.000153775" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000050" "g.137223030C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464673" "1" "50" "5" "137216550" "137216550" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000043" "g.137216550G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464674" "1" "50" "5" "137206597" "137206597" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000039" "g.137206597C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464675" "1" "50" "5" "137222565" "137222565" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000046" "g.137222565T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464676" "1" "50" "5" "137206462" "137206462" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000038" "g.137206462T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464677" "1" "50" "5" "137219190" "137219190" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000044" "g.137219190G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464678" "1" "50" "5" "137216491" "137216495" "del" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000041" "g.137216491_137216495del" "" "{PMID:Nallamilli 2018:30564623}" "" "634-14_634-10delGTTTT" "" "Germline" "" "" "0" "" "" "" "" "0000464679" "1" "90" "5" "137206510" "137206510" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000001" "g.137206510C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464680" "1" "50" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464681" "1" "50" "5" "137206374" "137206374" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000037" "g.137206374C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464682" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464683" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464684" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464685" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464686" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464687" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464688" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464689" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464690" "1" "90" "5" "137206519" "137206519" "subst" "0" "0.0000768876" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000008" "g.137206519C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000464691" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464692" "1" "50" "5" "137222978" "137222978" "subst" "0" "0.00030755" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000049" "g.137222978T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "" "" "0000464694" "1" "90" "5" "137206519" "137206519" "subst" "0" "0" "00430" "9" "00006" "2019-02-06 14:15:12" "" "" "MYOT_000007" "g.137206519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "" "" ## 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. ## Count = 137 "{{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}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "{{VariantOnTranscript/Classification}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Protein/CodonNr}}" "{{VariantOnTranscript/Exon_old}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Screen/Method}}" "{{VariantOnTranscript/DNA/Legacy}}" "{{VariantOnTranscript/Protein/Legacy}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Grantham}}" "{{VariantOnTranscript/Predict/AGVGD}}" "{{VariantOnTranscript/Codon_change}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "{{VariantOnTranscript/Conservation}}" "{{VariantOnTranscript/Predict/Splice}}" "{{VariantOnTranscript/Protein/Stain}}" "{{VariantOnTranscript/Predict/CADD}}" "0000079500" "00014202" "00" "-8388608" "0" "8388607" "0" "c.-13375330_*8494211dup" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000246313" "00014202" "10" "220" "0" "220" "0" "c.220A>C" "r.(?)" "p.(Lys74Gln)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000248254" "00014202" "10" "220" "0" "220" "0" "c.220A>C" "r.(?)" "p.(Lys74Gln)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000251142" "00014202" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000251343" "00014202" "10" "1190" "12" "1190" "12" "c.1190+12A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000251700" "00014202" "30" "220" "0" "220" "0" "c.220A>C" "r.(?)" "p.(Lys74Gln)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000252747" "00014202" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299869" "00014202" "10" "1008" "0" "1008" "0" "c.1008G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299870" "00014202" "30" "120" "0" "120" "0" "c.120T>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299871" "00014202" "30" "1401" "0" "1401" "0" "c.1401T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299873" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299874" "00014202" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299875" "00014202" "10" "630" "0" "630" "0" "c.630G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330528" "00014202" "30" "780" "0" "780" "0" "c.780G>A" "" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330529" "00014202" "30" "1190" "7" "1190" "7" "c.1190+7T>C" "" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330530" "00014202" "50" "1324" "2" "1324" "2" "c.1324+2T>C" "" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344400" "00014202" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Cys47Tyr)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000438825" "00014202" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "" "" "" "" "" "" "ACMG: 4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000439329" "00014202" "50" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442838" "00014202" "10" "1595" "0" "1595" "0" "c.*98G>A" "r.*98g>a" "p.(=)" "10" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442839" "00014202" "90" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Lys36Glu)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442840" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442841" "00014202" "10" "-124" "0" "-124" "0" "c.-124T>G" "r.(?)" "p.(=)" "1" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442842" "00014202" "10" "1325" "-47" "1325" "-47" "c.1325-47T>C" "r.(=)" "p.(=)" "9i" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442843" "00014202" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442844" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442845" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442846" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442847" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442848" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.170c>u" "p.Thr57Ile" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442849" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442850" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442851" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442852" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442853" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442854" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442855" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442856" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442857" "00014202" "90" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442858" "00014202" "10" "-251" "0" "-251" "0" "c.-251A>G" "r.(?)" "p.(=)" "1" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442859" "00014202" "90" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Ser95Ile)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442860" "00014202" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442861" "00014202" "10" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Leu161Trp)" "3" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442862" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442863" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442864" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442865" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442866" "00014202" "90" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Lys36Glu)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442867" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442869" "00014202" "90" "170" "0" "170" "0" "c.(170C>T)" "r.170c>u" "p.Thr57Ile" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442870" "00014202" "90" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442871" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442872" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442873" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442874" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442875" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442876" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442877" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442878" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442879" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442880" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442881" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442882" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442883" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442884" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442885" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442886" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "9" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442887" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442888" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442889" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442890" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442891" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442892" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442893" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442894" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442895" "00014202" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442896" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442897" "00014202" "50" "1413" "0" "1413" "0" "c.1413G>T" "r.(?)" "p.(Leu471Phe)" "10" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442898" "00014202" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "2" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442899" "00014202" "10" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Gln74Lys)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442900" "00014202" "50" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Asn108Thr)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442901" "00014202" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "2" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442902" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442903" "00014202" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Gly206Asp)" "4" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442904" "00014202" "50" "1008" "0" "1008" "0" "c.1008G>T" "r.(?)" "p.(=)" "7" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442905" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "-" "p.Arg405Lys" "9" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442906" "00014202" "90" "1214" "0" "1214" "0" "c.1214G>A" "-" "p.Arg405Lys" "9" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000442935" "00014202" "90" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6His)" "" "" "" "" "" "" "pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464645" "00014202" "50" "1413" "0" "1413" "0" "c.1413G>T" "r.(?)" "p.(Leu471Phe)" "10" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464646" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464647" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464648" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464649" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464650" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464651" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464652" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464653" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464654" "00014202" "50" "1398" "0" "1398" "0" "c.1398T>G" "r.(?)" "p.(=)" "10" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464655" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464656" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464657" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464658" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464659" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464660" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464661" "00014202" "50" "1083" "0" "1083" "0" "c.1083dup" "r.(?)" "p.(Glu362Argfs*25)" "8" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464662" "00014202" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Thr422Ile)" "9" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464663" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464664" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464665" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464666" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464667" "00014202" "50" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Asn108Thr)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464668" "00014202" "50" "445" "0" "445" "0" "c.445G>C" "r.(?)" "p.(Glu149Gln)" "3" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464669" "00014202" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "5" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464670" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464671" "00014202" "50" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Gly191Arg)" "4" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464672" "00014202" "50" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485Cys)" "10" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464673" "00014202" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Val227Ile)" "5" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464674" "00014202" "50" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Thr86Lys)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464675" "00014202" "50" "1203" "0" "1203" "0" "c.1203T>A" "r.(?)" "p.(Asp401Glu)" "9" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464676" "00014202" "50" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464677" "00014202" "50" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Val312Leu)" "7" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464678" "00014202" "50" "634" "-14" "634" "-10" "c.634-14_634-10del" "r.spl?" "p.(?)" "4i" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464679" "00014202" "90" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464680" "00014202" "50" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464681" "00014202" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(Gln12Glu)" "2" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464682" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464683" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464684" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464685" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464686" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464687" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464688" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464689" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464690" "00014202" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ser60Phe)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464691" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464692" "00014202" "50" "1401" "0" "1401" "0" "c.1401T>A" "r.(?)" "p.(Asn467Lys)" "10" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000464694" "00014202" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ser60Cys)" "2" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 119 "{{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"