### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PYGM) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PYGM" "phosphorylase, glycogen, muscle" "11" "q12-q13.2" "unknown" "NG_013018.1" "UD_132118528986" "" "http://www.LOVD.nl/PYGM" "" "1" "9726" "5837" "608455" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PYGM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-05 15:17:56" "00000" "2023-07-07 10:10:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024023" "PYGM" "transcript variant 1" "002" "NM_005609.2" "" "NP_005600.1" "" "" "" "-817" "2799" "2529" "64528187" "64513861" "00006" "2015-03-05 15:16:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01825" "GSD5" "storage disease, glycogen, type V (GSD5, McArdle disease)" "AR" "232600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-30 11:09:13" "01971" "CIPA" "pain insensitivity, congenital, with anhidrosis (CIPA)" "AR" "256800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 15:31:57" "02057" "myoglobinuria" "myoglobinuria" "AR" "268200" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PYGM" "01825" ## Individuals ## Do not remove or alter this header ## ## Count = 180 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00033808" "" "" "" "1" "" "00402" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00034217" "" "" "" "1" "" "01257" "{PMID:abstract 7603523:7603523}" "" "" "" "" "" "0" "" "" "" "" "00034218" "" "" "" "1" "" "01257" "{PMID:abstract 9506549:9506549}" "" "" "" "" "" "0" "" "" "" "" "00034219" "" "" "" "1" "" "01257" "{PMID:abstract 17172620:17172620}" "" "" "" "" "" "0" "" "" "" "" "00034220" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034221" "" "" "" "1" "" "01257" "{PMID:Wang 2013:22899091}" "" "F" "" "United States" "" "0" "" "" "" "P5" "00034222" "" "" "" "1" "" "01257" "{PMID:Bartram 1994:8054367}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00034223" "" "" "" "1" "" "01257" "{PMID:abstract 15979037:15979037}" "" "" "" "" "" "0" "" "" "" "" "00034224" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034225" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034226" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034227" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034228" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034229" "" "" "" "1" "" "01257" "{PMID:abstract 11809171:11809171}" "" "" "" "" "" "0" "" "" "" "" "00034230" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034231" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034232" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034233" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034234" "" "" "" "1" "" "01257" "{PMID:abstract 12508303:12508303}" "" "" "" "" "" "0" "" "" "" "" "00034235" "" "" "" "1" "" "01257" "{PMID:abstract 12508303:12508303}" "" "" "" "" "" "0" "" "" "" "" "00034236" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034237" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034238" "" "" "" "1" "" "01257" "{PMID:abstract 10417800:10417800}" "" "" "" "" "" "0" "" "" "" "" "00034239" "" "" "" "1" "" "01257" "{PMID:abstract 11706962:11706962}" "" "" "" "" "" "0" "" "" "" "" "00034240" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034241" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034242" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034243" "" "" "" "1" "" "01257" "{PMID:abstract 22250184:22250184}" "" "" "" "" "" "0" "" "" "" "" "00034244" "" "" "" "1" "" "01257" "{PMID:abstract 14748827:14748827}" "" "" "" "" "" "0" "" "" "" "" "00034245" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034246" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034247" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034248" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034249" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034250" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034251" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034252" "" "" "" "1" "" "01257" "{PMID:abstract 10679948:10679948}" "" "" "" "" "" "0" "" "" "" "" "00034253" "" "" "" "1" "" "01257" "{PMID:Tsujino 1993:8316268}" "" "" "" "United States" "" "0" "" "" "" "" "00034254" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034255" "" "" "" "1" "" "01257" "{PMID:abstract 22608882:22608882}" "" "" "" "" "" "0" "" "" "" "" "00034256" "" "" "" "1" "" "01257" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "" "Spain" "" "0" "" "" "" "" "00034257" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034258" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034259" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034260" "" "" "" "1" "" "01257" "{PMID:abstract 11749054:11749054}" "" "" "" "" "" "0" "" "" "" "" "00034261" "" "" "" "1" "" "01257" "{PMID:abstract 8279469:8279469}" "" "" "" "" "" "0" "" "" "" "" "00034262" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034263" "" "" "" "1" "" "01257" "{PMID:abstract 22250184:22250184}" "" "" "" "" "" "0" "" "" "" "" "00034264" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034265" "" "" "" "1" "" "01257" "{PMID:abstract 11706962:11706962}" "" "" "" "" "" "0" "" "" "" "" "00034266" "" "" "" "1" "" "01257" "{PMID:abstract 19309804:19309804}" "" "" "" "" "" "0" "" "" "" "" "00034267" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034268" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034269" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034270" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034271" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034272" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034273" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034274" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034275" "" "" "" "1" "" "01257" "{PMID:abstract 11168025:11168025}" "" "" "" "" "" "0" "" "" "" "" "00034276" "" "" "" "1" "" "01257" "{PMID:abstract 8535454:8535454}" "" "" "" "" "" "0" "" "" "" "" "00034277" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034278" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034279" "" "" "" "1" "" "01257" "{PMID:abstract 22250184:22250184}" "" "" "" "" "" "0" "" "" "" "" "00034280" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034281" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034282" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034283" "" "" "" "1" "" "01257" "{PMID:abstract 19309802:19309802}" "" "" "" "" "" "0" "" "" "" "" "00034284" "" "" "" "1" "" "01257" "{PMID:Viéitez 2009:19309783}" "" "" "" "" "" "0" "" "" "" "" "00034285" "" "" "" "1" "" "01257" "{PMID:abstract 14568816:14568816}" "" "" "" "" "" "0" "" "" "" "" "00034286" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034287" "" "" "" "1" "" "01257" "{PMID:abstract 10714589:10714589}" "" "" "" "" "" "0" "" "" "" "" "00034288" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034289" "" "" "" "1" "" "01257" "{PMID:abstract 21658951:21658951}" "" "" "" "" "" "0" "" "" "" "" "00034290" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034291" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034292" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034293" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034294" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034295" "" "" "" "1" "" "01257" "{PMID:abstract 11949935:11949935}" "" "" "" "" "" "0" "" "" "" "" "00034296" "" "" "" "1" "" "01257" "{PMID:Tsujino 1994:7951211}" "" "M" "?" "Japan" "" "0" "" "" "" "" "00034297" "" "" "" "1" "" "01257" "{PMID:abstract 23653251:23653251}" "" "" "" "" "" "0" "" "" "" "" "00034298" "" "" "" "1" "" "01257" "{PMID:abstract 11706962:11706962}" "" "" "" "" "" "0" "" "" "" "" "00034299" "" "" "" "1" "" "01257" "{PMID:abstract 10450796:10450796}" "" "" "" "" "" "0" "" "" "" "" "00034300" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034301" "" "" "" "1" "" "01257" "{PMID:Tsujino 1993:8316268}" "" "" "" "United States" "" "0" "" "" "" "" "00034302" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034303" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034304" "" "" "" "1" "" "01257" "{PMID:abstract 12929201:12929201}" "" "" "" "" "" "0" "" "" "" "" "00034305" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034306" "" "" "" "1" "" "01257" "{PMID:abstract 9506549:9506549}" "" "" "" "" "" "0" "" "" "" "" "00034307" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034308" "" "" "" "1" "" "01257" "{PMID:abstract 16154688:16154688}" "" "" "" "" "" "0" "" "" "" "" "00034309" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034310" "" "" "" "1" "" "01257" "{PMID:abstract 14748827:14748827}" "" "" "" "" "" "0" "" "" "" "" "00034311" "" "" "" "1" "" "01257" "{PMID:abstract 11706962:11706962}" "" "" "" "" "" "0" "" "" "" "" "00034312" "" "" "" "1" "" "01257" "{PMID:abstract 12398832:12398832}" "" "" "" "" "" "0" "" "" "" "" "00034313" "" "" "" "1" "" "01257" "{PMID:abstract 14638972:14638972}" "" "" "" "" "" "0" "" "" "" "" "00034314" "" "" "" "1" "" "01257" "{PMID:abstract 21880526:21880526}" "" "" "" "" "" "0" "" "" "" "" "00034315" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034316" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034317" "" "" "" "1" "" "01257" "{PMID:abstract 8535454:8535454}" "" "" "" "" "" "0" "" "" "" "" "00034318" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034319" "" "" "" "1" "" "01257" "{PMID:abstract 10899452:10899452}" "" "" "" "" "" "0" "" "" "" "" "00034320" "" "" "" "1" "" "01257" "{PMID:abstract 18386378:18386378}" "" "" "" "" "" "0" "" "" "" "" "00034321" "" "" "" "1" "" "01257" "{PMID:abstract 9506549:9506549}" "" "" "" "" "" "0" "" "" "" "" "00034322" "" "" "" "1" "" "01257" "{PMID:abstract 20108426:20108426}" "" "" "" "" "" "0" "" "" "" "" "00034323" "" "" "" "1" "" "01257" "{PMID:abstract 10382911:10382911}" "" "" "" "" "" "0" "" "" "" "" "00034324" "" "" "" "1" "" "01257" "{PMID:abstract 9506549:9506549}" "" "" "" "" "" "0" "" "" "" "" "00034325" "" "" "" "1" "" "01257" "{PMID:abstract 12031624:12031624}" "" "" "" "" "" "0" "" "" "" "" "00034326" "" "" "" "1" "" "01257" "{PMID:abstract 15262743:15262743}" "" "" "" "" "" "0" "" "" "" "" "00034327" "" "" "" "1" "" "01257" "{PMID:abstract 16924035:16924035}" "" "" "" "" "" "0" "" "" "" "" "00034328" "" "" "" "1" "" "01257" "{PMID:Martin 2001:11706962}, {PMID:Park 2017:27363342}" "" "" "" "Spain" "" "0" "" "" "" "?/Pat197" "00034329" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034330" "" "" "" "1" "" "01257" "{PMID:abstract 8279469:8279469}" "" "" "" "" "" "0" "" "" "" "" "00034331" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034332" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034333" "" "" "" "1" "" "01257" "{PMID:abstract 9633816:9633816}" "" "" "" "" "" "0" "" "" "" "" "00034334" "" "" "" "1" "" "01257" "{PMID:abstract 11706962:11706962}" "" "" "" "" "" "0" "" "" "" "" "00034335" "" "" "" "1" "" "01257" "{PMID:abstract 20957198:20957198}" "" "" "" "" "" "0" "" "" "" "" "00034336" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034337" "" "" "" "1" "" "01257" "{PMID:abstract 18667317:18667317}" "" "" "" "" "" "0" "" "" "" "" "00034338" "" "" "" "1" "" "01257" "{PMID:abstract 17221871:17221871}" "" "" "" "" "" "0" "" "" "" "" "00034339" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034340" "" "" "" "1" "" "01257" "{PMID:abstract 10679948:10679948}" "" "" "" "" "" "0" "" "" "" "" "00034341" "" "" "" "1" "" "01257" "{PMID:abstract 10590419:10590419}" "" "" "" "" "" "0" "" "" "" "" "00034342" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034343" "" "" "" "1" "" "01257" "{PMID:abstract 21802952:21802952}" "" "" "" "" "" "0" "" "" "" "" "00034344" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034345" "" "" "" "1" "" "01257" "{PMID:abstract 18808785:18808785}" "" "" "" "" "" "0" "" "" "" "" "00034346" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034347" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034348" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034349" "" "" "" "1" "" "01257" "{PMID:abstract 19433441:19433441}" "" "" "" "" "" "0" "" "" "" "" "00034350" "" "" "" "1" "" "01257" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "" "Spain" "" "0" "" "" "" "" "00034351" "" "" "" "1" "" "01257" "{PMID:abstract 16924035:16924035}" "" "" "" "" "" "0" "" "" "" "" "00034352" "" "" "" "1" "" "01257" "{PMID:abstract 17404776:17404776}" "" "" "" "" "" "0" "" "" "" "" "00034353" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034354" "" "" "" "1" "" "01257" "{PMID:abstract 22250184:22250184}" "" "" "" "" "" "0" "" "" "" "" "00034355" "" "" "" "1" "" "01257" "{PMID:abstract 19472443:19472443}" "" "" "" "" "" "0" "" "" "" "" "00034356" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034357" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034358" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034359" "" "" "" "1" "" "01257" "{PMID:abstract 8279469:8279469}" "" "" "" "" "" "0" "" "" "" "" "00034360" "" "" "" "1" "" "01257" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "" "Spain" "" "0" "" "" "" "" "00034361" "" "" "" "1" "" "01257" "{PMID:abstract 17324573:17324573}" "" "" "" "" "" "0" "" "" "" "" "00034362" "" "" "" "1" "" "01257" "{PMID:abstract 16786513:16786513}" "" "" "" "" "" "0" "" "" "" "" "00034363" "" "" "" "1" "" "01257" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "" "Spain" "" "0" "" "" "" "" "00034364" "" "" "" "2" "" "01257" "{PMID:Tsujino 1993:8316268}" "2/40 homozygous patients" "" "" "United States" "" "0" "" "" "" "" "00034365" "" "" "" "16" "" "01257" "{PMID:Tsujino 1993:8316268}" "16/40 homozygous patients" "" "" "United States" "" "0" "" "" "" "" "00034366" "" "" "" "1" "" "01257" "{PMID:Tsujino 1993:8316268}" "2-generation family, compound heterozygous mother of 3 affected children" "" "" "United States" "" "0" "" "" "" "" "00034367" "" "" "" "2" "" "01257" "{PMID:Tsujino 1993:8316268}" "2-generation family, compound heterozygous son/daugther" "" "" "United States" "" "0" "" "" "" "" "00034368" "" "" "" "1" "" "01257" "{PMID:Tsujino 1993:8316268}" "2-generation family, compound heterozygous 2nd son/daugther" "" "" "United States" "" "0" "" "" "" "" "00034369" "" "" "" "1" "" "00006" "{PMID:Tsujino 1994:7951211}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Japan" "" "0" "" "" "" "" "00056435" "" "" "" "1" "" "01502" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00056436" "" "" "" "1" "" "01502" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00056437" "" "" "" "1" "" "01502" "" "" "M" "?" "Spain" "" "0" "" "" "" "" "00079923" "" "" "" "1" "" "01743" "" "" "F" "yes" "India" "" "0" "" "" "East Indian" "" "00081887" "" "" "" "1" "" "01502" "" "" "M" "?" "" "" "0" "" "" "" "" "00265253" "" "" "" "1" "" "03426" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00265782" "" "" "" "14" "" "00006" "Echaniz-Laguna WMS2019, absO5" "4-generation family, 14 affected" "F;M" "" "France" "" "0" "" "" "" "Fam" "00265783" "" "" "" "1" "" "00006" "{PMID:Cheraud 2018:28120463}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat1" "00265784" "" "" "" "1" "" "00006" "{PMID:Cheraud 2018:28120463}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Pat2" "00290472" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290473" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290474" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295644" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00303627" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Egypt" "" "0" "" "" "" "Family_38" "00314405" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314406" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314407" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00361766" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00361894" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00374453" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-485" "00382754" "" "" "" "1" "" "00454" "" "" "M" "likely" "(Argentina)" "" "" "" "" "" "" "00413107" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P36/Myo099" "00413134" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P77/Myo153" "00414334" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP1" "00419520" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20015" "00427994" "" "" "" "2" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 2 affected (F, M)" "" "" "Australia" "" "0" "" "" "" "A085" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 181 "{{individualid}}" "{{diseaseid}}" "00033808" "04216" "00034217" "01825" "00034218" "01825" "00034219" "01825" "00034220" "01825" "00034221" "01825" "00034222" "01825" "00034223" "01825" "00034224" "01825" "00034225" "01825" "00034226" "01825" "00034227" "01825" "00034228" "01825" "00034229" "01825" "00034230" "01825" "00034231" "01825" "00034232" "01825" "00034233" "01825" "00034234" "01825" "00034235" "01825" "00034236" "01825" "00034237" "01825" "00034238" "01825" "00034239" "01825" "00034240" "01825" "00034241" "01825" "00034242" "01825" "00034243" "01825" "00034244" "01825" "00034245" "01825" "00034246" "01825" "00034247" "01825" "00034248" "01825" "00034249" "01825" "00034250" "01825" "00034251" "01825" "00034252" "01825" "00034253" "01825" "00034254" "01825" "00034255" "01825" "00034256" "01825" "00034257" "01825" "00034258" "01825" "00034259" "01825" "00034260" "01825" "00034261" "01825" "00034262" "01825" "00034263" "01825" "00034264" "01825" "00034265" "01825" "00034266" "01825" "00034267" "01825" "00034268" "01825" "00034269" "01825" "00034270" "01825" "00034271" "01825" "00034272" "01825" "00034273" "01825" "00034274" "01825" "00034275" "01825" "00034276" "01825" "00034277" "01825" "00034278" "01825" "00034279" "01825" "00034280" "01825" "00034281" "01825" "00034282" "01825" "00034283" "01825" "00034284" "01825" "00034285" "01825" "00034286" "01825" "00034287" "01825" "00034288" "01825" "00034289" "01825" "00034290" "01825" "00034291" "01825" "00034292" "01825" "00034293" "01825" "00034294" "01825" "00034295" "01825" "00034296" "01825" "00034297" "01825" "00034298" "01825" "00034299" "01825" "00034300" "01825" "00034301" "01825" "00034302" "01825" "00034303" "01825" "00034304" "01825" "00034305" "01825" "00034306" "01825" "00034307" "01825" "00034308" "01825" "00034309" "01825" "00034310" "01825" "00034311" "01825" "00034312" "01825" "00034313" "01825" "00034314" "01825" "00034315" "01825" "00034316" "01825" "00034317" "01825" "00034318" "01825" "00034319" "01825" "00034320" "01825" "00034321" "01825" "00034322" "01825" "00034323" "01825" "00034324" "01825" "00034325" "01825" "00034326" "01825" "00034327" "01825" "00034328" "01825" "00034329" "01825" "00034330" "01825" "00034331" "01825" "00034332" "01825" "00034333" "01825" "00034334" "01825" "00034335" "01825" "00034336" "01825" "00034337" "01825" "00034338" "01825" "00034339" "01825" "00034340" "01825" "00034341" "01825" "00034342" "01825" "00034343" "01825" "00034344" "01825" "00034345" "01825" "00034346" "01825" "00034347" "01825" "00034348" "01825" "00034349" "01825" "00034350" "01825" "00034351" "01825" "00034352" "01825" "00034353" "01825" "00034354" "01825" "00034355" "01825" "00034356" "01825" "00034357" "01825" "00034358" "01825" "00034359" "01825" "00034360" "01825" "00034361" "01825" "00034362" "01825" "00034363" "01825" "00034364" "01825" "00034365" "01825" "00034366" "01825" "00034367" "01825" "00034368" "01825" "00034369" "01825" "00056435" "01825" "00056436" "01825" "00056437" "01825" "00079923" "02057" "00081887" "01825" "00265253" "01825" "00265782" "04216" "00265783" "00244" "00265784" "00244" "00290472" "00198" "00290473" "00198" "00290474" "00198" "00295644" "00198" "00303627" "00198" "00314405" "05126" "00314406" "05126" "00314407" "05126" "00361766" "01971" "00361894" "01825" "00361894" "01971" "00374453" "00198" "00382754" "01825" "00413107" "00244" "00413134" "00244" "00414334" "00198" "00419520" "00198" "00427994" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01825, 01971, 02057, 04216, 05126 ## Count = 174 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027208" "04216" "00033808" "00402" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027613" "01825" "00034217" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027614" "01825" "00034218" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027615" "01825" "00034219" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027616" "01825" "00034220" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027617" "01825" "00034221" "01257" "Isolated (sporadic)" "14y" "see paper; ..., recurrent rhabdomyolysis" "" "" "" "" "" "" "" "" "" "" "" "0000027618" "01825" "00034222" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027619" "01825" "00034223" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027620" "01825" "00034224" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027621" "01825" "00034225" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027622" "01825" "00034226" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027623" "01825" "00034227" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027624" "01825" "00034228" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027625" "01825" "00034229" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027626" "01825" "00034230" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027627" "01825" "00034231" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027628" "01825" "00034232" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027629" "01825" "00034233" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027630" "01825" "00034234" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027631" "01825" "00034235" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027632" "01825" "00034236" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027633" "01825" "00034237" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027634" "01825" "00034238" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027635" "01825" "00034239" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027636" "01825" "00034240" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027637" "01825" "00034241" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027638" "01825" "00034242" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027639" "01825" "00034243" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027640" "01825" "00034244" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027641" "01825" "00034245" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027642" "01825" "00034246" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027643" "01825" "00034247" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027644" "01825" "00034248" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027645" "01825" "00034249" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027646" "01825" "00034250" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027647" "01825" "00034251" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027648" "01825" "00034252" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027649" "01825" "00034253" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027650" "01825" "00034254" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027651" "01825" "00034255" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027652" "01825" "00034256" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027653" "01825" "00034257" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027654" "01825" "00034258" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027655" "01825" "00034259" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027656" "01825" "00034260" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027657" "01825" "00034261" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027658" "01825" "00034262" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027659" "01825" "00034263" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027660" "01825" "00034264" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027661" "01825" "00034265" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027662" "01825" "00034266" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027663" "01825" "00034267" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027664" "01825" "00034268" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027665" "01825" "00034269" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027666" "01825" "00034270" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027667" "01825" "00034271" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027668" "01825" "00034272" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027669" "01825" "00034273" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027670" "01825" "00034274" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027671" "01825" "00034275" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027672" "01825" "00034276" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027673" "01825" "00034277" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027674" "01825" "00034278" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027675" "01825" "00034279" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027676" "01825" "00034280" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027677" "01825" "00034281" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027678" "01825" "00034282" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027679" "01825" "00034283" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027680" "01825" "00034284" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027681" "01825" "00034285" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027682" "01825" "00034286" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027683" "01825" "00034287" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027684" "01825" "00034288" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027685" "01825" "00034289" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027686" "01825" "00034290" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027687" "01825" "00034291" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027688" "01825" "00034292" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027689" "01825" "00034293" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027690" "01825" "00034294" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027691" "01825" "00034295" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027692" "01825" "00034296" "01257" "Isolated (sporadic)" "26y" "exercise intolerance, cramps, recurrent myoglobinuria without renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000027693" "01825" "00034297" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027694" "01825" "00034298" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027695" "01825" "00034299" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027696" "01825" "00034300" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027697" "01825" "00034301" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027698" "01825" "00034302" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027699" "01825" "00034303" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027700" "01825" "00034304" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027701" "01825" "00034305" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027702" "01825" "00034306" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027703" "01825" "00034307" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027704" "01825" "00034308" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027705" "01825" "00034309" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027706" "01825" "00034310" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027707" "01825" "00034311" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027708" "01825" "00034312" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027709" "01825" "00034313" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027710" "01825" "00034314" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027711" "01825" "00034315" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027712" "01825" "00034316" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027713" "01825" "00034317" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027714" "01825" "00034318" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027715" "01825" "00034319" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027716" "01825" "00034320" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027717" "01825" "00034321" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027718" "01825" "00034322" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027719" "01825" "00034323" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027720" "01825" "00034324" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027721" "01825" "00034325" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027722" "01825" "00034326" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027723" "01825" "00034327" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027724" "01825" "00034328" "01257" "Isolated (sporadic)" "" "cramp, Hyper-CK-emia, and mild weakness of pelvic muscles; muscle myopathic pattern with a few hypercontracted fibers; elevated CK (2498 IU/L); ECG or echo normal; no family history" "18y" "22y" "" "" "" "" "" "" "GSD5" "McArdle disease" "" "0000027725" "01825" "00034329" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027726" "01825" "00034330" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027727" "01825" "00034331" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027728" "01825" "00034332" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027729" "01825" "00034333" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027730" "01825" "00034334" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027731" "01825" "00034335" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027732" "01825" "00034336" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027733" "01825" "00034337" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027734" "01825" "00034338" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027735" "01825" "00034339" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027736" "01825" "00034340" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027737" "01825" "00034341" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027738" "01825" "00034342" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027739" "01825" "00034343" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027740" "01825" "00034344" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027741" "01825" "00034345" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027742" "01825" "00034346" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027743" "01825" "00034347" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027744" "01825" "00034348" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027745" "01825" "00034349" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027746" "01825" "00034350" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027747" "01825" "00034351" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027748" "01825" "00034352" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027749" "01825" "00034353" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027750" "01825" "00034354" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027751" "01825" "00034355" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027752" "01825" "00034356" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027753" "01825" "00034357" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027754" "01825" "00034358" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027755" "01825" "00034359" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027756" "01825" "00034360" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027757" "01825" "00034361" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027758" "01825" "00034362" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027759" "01825" "00034363" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027760" "01825" "00034364" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027761" "01825" "00034365" "01257" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027762" "01825" "00034366" "01257" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027763" "01825" "00034367" "01257" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027764" "01825" "00034368" "01257" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027765" "01825" "00034369" "00006" "Familial, autosomal recessive" "43y" "problems physical activities since childhood, no cramps or pigmenturia" "" "" "" "" "" "" "" "" "" "" "" "0000043054" "01825" "00056435" "01502" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043055" "01825" "00056436" "01502" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043056" "01825" "00056437" "01502" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059617" "02057" "00079923" "01743" "Familial, autosomal recessive" "15y" "McArdle disease phenotype" "" "15y" "" "" "" "" "" "" "" "" "" "0000061489" "01825" "00081887" "01502" "Familial, autosomal recessive" "" "" "" "45y" "" "" "" "" "" "" "" "" "" "0000203568" "04216" "00265782" "00006" "Familial, autosomal dominant" "" "adult-onset proximal muscle weakness, normal metabolic response aerobic/anaerobic exercise; muscle biopsy glycogen accumulation" "" "" "" "" "" "" "" "" "" "" "" "0000203569" "00244" "00265783" "00006" "Familial, autosomal recessive" "76y" "severe upper and lower limb atrophy and weakness; bilateral ptosis; no history exercise intolerance" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000203570" "00244" "00265784" "00006" "Familial, autosomal recessive" "79y" "severe upper and lower limb atrophy and weakness; camptocormia; no history exercise intolerance" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000223208" "00198" "00295644" "01164" "Unknown" "" "Elevated serum creatine phosphokinase (HP:0003236); Exercise-induced myalgia (HP:0003738)" "" "" "" "" "" "" "" "" "" "" "" "0000230691" "00198" "00303627" "00006" "Familial, autosomal recessive" "" "see paper; ..., nonsyndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "nonsyndromic ID/DD" "" "0000257159" "01971" "00361766" "03219" "Familial, autosomal recessive" "" "Developmental delay, increased serum creatine phosphokinase, family history of elder sibling with pain insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000257287" "01825" "00361894" "03219" "Familial, autosomal recessive" "" "Developmental delay, increased serum creatine phosphokinase" "" "" "" "" "" "" "" "" "" "" "" "0000257288" "01971" "00361894" "03219" "Familial, autosomal recessive" "" "family history of elder sibling with pain insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000269663" "00198" "00374453" "00006" "Familial, autosomal recessive" "" "Abnormal positioning of limbs, myopathy, recurrent cramps, infection triggered rhabdomyolysis with secondary renal and liver damage" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000276611" "01825" "00382754" "00454" "Familial, autosomal recessive" "" "HP:0003201, HP:0003546" "12y" "" "HP:0002913" "" "" "" "" "" "26y" "" "" "0000305088" "00244" "00413107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "McArdle’s disease" "hCK, myalgia" "" "0000305115" "00244" "00413134" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "McArdle’s disease" "limb-girdle muscular weakness, hCK" "" "0000306169" "00198" "00414334" "00000" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "Glycogen Storage Disease type V" "" "" "0000310801" "00198" "00419520" "02300" "Familial, autosomal recessive" "53y" "" "" "" "" "" "" "" "" "" "" "metabolic abnormality" "" "0000318940" "00198" "00427994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 181 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033876" "00033808" "1" "00006" "00006" "2015-03-05 15:43:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000034286" "00034217" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034287" "00034218" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034288" "00034219" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034289" "00034220" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034290" "00034221" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034291" "00034222" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034292" "00034223" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034293" "00034224" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034294" "00034225" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034295" "00034226" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034296" "00034227" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034297" "00034228" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034298" "00034229" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034299" "00034230" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034300" "00034231" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034301" "00034232" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034302" "00034233" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034303" "00034234" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034304" "00034235" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034305" "00034236" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034306" "00034237" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034307" "00034238" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034308" "00034239" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034309" "00034240" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034310" "00034241" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034311" "00034242" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034312" "00034243" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034313" "00034244" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034314" "00034245" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034315" "00034246" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034316" "00034247" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034317" "00034248" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034318" "00034249" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034319" "00034250" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034320" "00034251" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034321" "00034252" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034322" "00034253" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034323" "00034254" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034324" "00034255" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034325" "00034256" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034326" "00034257" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034327" "00034258" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034328" "00034259" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034329" "00034260" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034330" "00034261" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034331" "00034262" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034332" "00034263" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034333" "00034264" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034334" "00034265" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034335" "00034266" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034336" "00034267" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034337" "00034268" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034338" "00034269" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034339" "00034270" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034340" "00034271" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034341" "00034272" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034342" "00034273" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034343" "00034274" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034344" "00034275" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034345" "00034276" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034346" "00034277" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034347" "00034278" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034348" "00034279" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034349" "00034280" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034350" "00034281" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034351" "00034282" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034352" "00034283" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034353" "00034284" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034354" "00034285" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034355" "00034286" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034356" "00034287" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034357" "00034288" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034358" "00034289" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034359" "00034290" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034360" "00034291" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034361" "00034292" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034362" "00034293" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034363" "00034294" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034364" "00034295" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034365" "00034296" "1" "01257" "00006" "2015-03-09 11:26:08" "00006" "2015-03-14 16:02:25" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034366" "00034297" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034367" "00034298" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034368" "00034299" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034369" "00034300" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034370" "00034301" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034371" "00034302" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034372" "00034303" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034373" "00034304" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034374" "00034305" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034375" "00034306" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034376" "00034307" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034377" "00034308" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034378" "00034309" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034379" "00034310" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034380" "00034311" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034381" "00034312" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034382" "00034313" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA;RNA" "" "" "0000034383" "00034314" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034384" "00034315" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034385" "00034316" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034386" "00034317" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034387" "00034318" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034388" "00034319" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034389" "00034320" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034390" "00034321" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034391" "00034322" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034392" "00034323" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034393" "00034324" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034394" "00034325" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034395" "00034326" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034396" "00034327" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034397" "00034328" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034398" "00034329" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034399" "00034330" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034400" "00034331" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034401" "00034332" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034402" "00034333" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034403" "00034334" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034404" "00034335" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034405" "00034336" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034406" "00034337" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034407" "00034338" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034408" "00034339" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034409" "00034340" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034410" "00034341" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034411" "00034342" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034412" "00034343" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034413" "00034344" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034414" "00034345" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034415" "00034346" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034416" "00034347" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034417" "00034348" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034418" "00034349" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034419" "00034350" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034420" "00034351" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034421" "00034352" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034422" "00034353" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034423" "00034354" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034424" "00034355" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034425" "00034356" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034426" "00034357" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034427" "00034358" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034428" "00034359" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034429" "00034360" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034430" "00034361" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034431" "00034362" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034432" "00034363" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034433" "00034364" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000034434" "00034365" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034435" "00034366" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034436" "00034367" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034437" "00034368" "1" "01257" "00006" "2015-03-09 11:26:08" "" "" "SEQ" "DNA" "" "" "0000034438" "00034369" "1" "00006" "00006" "2015-03-14 16:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000056394" "00056435" "1" "01502" "01502" "2016-01-07 12:10:30" "" "" "SEQ" "DNA" "" "" "0000056395" "00056435" "1" "01502" "01502" "2016-01-07 12:23:36" "" "" "SEQ" "DNA" "" "" "0000056396" "00056436" "1" "01502" "01502" "2016-01-07 12:45:51" "" "" "SEQ" "DNA" "" "" "0000056397" "00056437" "1" "01502" "01502" "2016-01-07 13:50:47" "" "" "SEQ" "DNA" "" "" "0000080004" "00079923" "1" "01743" "01743" "2016-08-28 23:06:03" "" "" "SEQ" "RNA" "blood DNA" "" "0000082024" "00081887" "1" "01502" "01502" "2016-11-03 14:40:31" "" "" "SEQ" "DNA" "" "" "0000266372" "00265253" "1" "03426" "03426" "2019-09-18 09:40:11" "" "" "SEQ-NG-IT" "DNA" "" "" "0000266905" "00265782" "1" "00006" "00006" "2019-10-05 15:24:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000266906" "00265783" "1" "00006" "00006" "2019-10-05 15:34:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266907" "00265784" "1" "00006" "00006" "2019-10-05 15:34:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291640" "00290472" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291641" "00290473" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291642" "00290474" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296816" "00295644" "1" "01164" "01164" "2020-03-22 12:43:12" "" "" "SEQ-NG-S" "DNA" "" "" "0000304755" "00303627" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315578" "00314405" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315579" "00314406" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315580" "00314407" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362994" "00361766" "1" "03219" "03219" "2021-04-10 06:08:51" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000363122" "00361894" "1" "03219" "03219" "2021-04-12 05:43:53" "" "" "SEQ-NG" "DNA" "" "" "0000375647" "00374453" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000383968" "00382754" "1" "00454" "00454" "2021-09-10 15:29:25" "" "" "SEQ-NG" "DNA" "blood" "WES, insilico gen panel" "0000414377" "00413107" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000414404" "00413134" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000415614" "00414334" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420824" "00419520" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000429407" "00427994" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "duo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 176 "{{screeningid}}" "{{geneid}}" "0000033876" "PYGM" "0000034286" "PYGM" "0000034287" "PYGM" "0000034288" "PYGM" "0000034289" "PYGM" "0000034290" "PYGM" "0000034291" "PYGM" "0000034292" "PYGM" "0000034293" "PYGM" "0000034294" "PYGM" "0000034295" "PYGM" "0000034296" "PYGM" "0000034297" "PYGM" "0000034298" "PYGM" "0000034299" "PYGM" "0000034300" "PYGM" "0000034301" "PYGM" "0000034302" "PYGM" "0000034303" "PYGM" "0000034304" "PYGM" "0000034305" "PYGM" "0000034306" "PYGM" "0000034307" "PYGM" "0000034308" "PYGM" "0000034309" "PYGM" "0000034310" "PYGM" "0000034311" "PYGM" "0000034312" "PYGM" "0000034313" "PYGM" "0000034314" "PYGM" "0000034315" "PYGM" "0000034316" "PYGM" "0000034317" "PYGM" "0000034318" "PYGM" "0000034319" "PYGM" "0000034320" "PYGM" "0000034321" "PYGM" "0000034322" "PYGM" "0000034323" "PYGM" "0000034324" "PYGM" "0000034325" "PYGM" "0000034326" "PYGM" "0000034327" "PYGM" "0000034328" "PYGM" "0000034329" "PYGM" "0000034330" "PYGM" "0000034331" "PYGM" "0000034332" "PYGM" "0000034333" "PYGM" "0000034334" "PYGM" "0000034335" "PYGM" "0000034336" "PYGM" "0000034337" "PYGM" "0000034338" "PYGM" "0000034339" "PYGM" "0000034340" "PYGM" "0000034341" "PYGM" "0000034342" "PYGM" "0000034343" "PYGM" "0000034344" "PYGM" "0000034345" "PYGM" "0000034346" "PYGM" "0000034347" "PYGM" "0000034348" "PYGM" "0000034349" "PYGM" "0000034350" "PYGM" "0000034351" "PYGM" "0000034352" "PYGM" "0000034353" "PYGM" "0000034354" "PYGM" "0000034355" "PYGM" "0000034356" "PYGM" "0000034357" "PYGM" "0000034358" "PYGM" "0000034359" "PYGM" "0000034360" "PYGM" "0000034361" "PYGM" "0000034362" "PYGM" "0000034363" "PYGM" "0000034364" "PYGM" "0000034365" "PYGM" "0000034366" "PYGM" "0000034367" "PYGM" "0000034368" "PYGM" "0000034369" "PYGM" "0000034370" "PYGM" "0000034371" "PYGM" "0000034372" "PYGM" "0000034373" "PYGM" "0000034374" "PYGM" "0000034375" "PYGM" "0000034376" "PYGM" "0000034377" "PYGM" "0000034378" "PYGM" "0000034379" "PYGM" "0000034380" "PYGM" "0000034381" "PYGM" "0000034382" "PYGM" "0000034383" "PYGM" "0000034384" "PYGM" "0000034385" "PYGM" "0000034386" "PYGM" "0000034387" "PYGM" "0000034388" "PYGM" "0000034389" "PYGM" "0000034390" "PYGM" "0000034391" "PYGM" "0000034392" "PYGM" "0000034393" "PYGM" "0000034394" "PYGM" "0000034395" "PYGM" "0000034396" "PYGM" "0000034397" "PYGM" "0000034398" "PYGM" "0000034399" "PYGM" "0000034400" "PYGM" "0000034401" "PYGM" "0000034402" "PYGM" "0000034403" "PYGM" "0000034404" "PYGM" "0000034405" "PYGM" "0000034406" "PYGM" "0000034407" "PYGM" "0000034408" "PYGM" "0000034409" "PYGM" "0000034410" "PYGM" "0000034411" "PYGM" "0000034412" "PYGM" "0000034413" "PYGM" "0000034414" "PYGM" "0000034415" "PYGM" "0000034416" "PYGM" "0000034417" "PYGM" "0000034418" "PYGM" "0000034419" "PYGM" "0000034420" "PYGM" "0000034421" "PYGM" "0000034422" "PYGM" "0000034423" "PYGM" "0000034424" "PYGM" "0000034425" "PYGM" "0000034426" "PYGM" "0000034427" "PYGM" "0000034428" "PYGM" "0000034429" "PYGM" "0000034430" "PYGM" "0000034431" "PYGM" "0000034432" "PYGM" "0000034433" "PYGM" "0000034434" "PYGM" "0000034435" "PYGM" "0000034436" "PYGM" "0000034437" "PYGM" "0000034438" "PYGM" "0000056394" "PYGM" "0000056395" "PYGM" "0000056396" "PYGM" "0000056397" "PYGM" "0000080004" "PYGM" "0000082024" "PYGM" "0000266372" "ACADVL" "0000266372" "AGL" "0000266372" "CPT2" "0000266372" "ETFDH" "0000266372" "PNPLA2" "0000266372" "PYGM" "0000266905" "PYGM" "0000266906" "PYGM" "0000266907" "PYGM" "0000304755" "PYGM" "0000315578" "PYGM" "0000315579" "PYGM" "0000315580" "PYGM" "0000375647" "PYGM" "0000383968" "PYGM" "0000415614" "PYGM" ## 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 = 254 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000060722" "1" "50" "11" "64525299" "64525299" "subst" "0.000158453" "00402" "PYGM_000001" "g.64525299G>A" "" "" "" "" "patient heterozygous for PHKB variant of unknown significance" "Unknown" "" "" "0" "" "" "g.64757827G>A" "" "VUS" "" "0000061290" "1" "70" "11" "64527370" "64527370" "subst" "0" "01257" "PYGM_000005" "g.64527370T>G" "" "{PMID:abstract 7603523:7603523}" "" "M0L; p.M1L" "" "Unknown" "" "" "0" "" "" "g.64759898T>G" "" "likely pathogenic" "" "0000061291" "1" "70" "11" "64527370" "64527370" "subst" "0.0000162648" "01257" "PYGM_000013" "g.64527370T>C" "" "{PMID:abstract 9506549:9506549}" "" "M0V; p.M1V" "" "Unknown" "" "" "0" "" "" "g.64759898T>C" "" "likely pathogenic" "" "0000061292" "1" "70" "11" "64527357" "64527358" "del" "0.00000406369" "01257" "PYGM_000070" "g.64527357_64527358del" "" "{PMID:abstract 17172620:17172620}" "" "13_14delCT" "" "Unknown" "" "" "0" "" "" "g.64759885_64759886del" "" "likely pathogenic" "" "0000061293" "1" "70" "11" "64527357" "64527357" "del" "0.0000162547" "01257" "PYGM_000119" "g.64527357del" "" "{PMID:abstract 21802952:21802952}" "" "L5RfsX20" "" "Unknown" "" "" "0" "" "" "g.64759885del" "" "likely pathogenic" "" "0000061294" "1" "70" "11" "64527346" "64527353" "dup" "0" "01257" "PYGM_000143" "g.64527346_64527353dup" "" "{PMID:Wang 2013:22899091}" "" "21_28dup8" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64759874_64759881dup" "" "likely pathogenic" "" "0000061295" "1" "90" "11" "64527325" "64527325" "delins" "0" "01257" "PYGM_000007" "g.64527325delinsAA" "" "{PMID:Bartram 1994:08054367}" "" "46delGinsTT" "" "Unknown" "" "" "0" "" "" "g.64759853delinsAA" "" "pathogenic" "" "0000061296" "1" "70" "11" "64527292" "64527293" "del" "0.00000812117" "01257" "PYGM_000046" "g.64527292_64527293del" "" "{PMID:abstract 15979037:15979037}" "" "T25fs" "" "Unknown" "" "" "0" "" "" "g.64759820_64759821del" "" "likely pathogenic" "" "0000061297" "1" "70" "11" "64527264" "64527264" "subst" "0.00000812123" "01257" "PYGM_000116" "g.64527264A>C" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64759792A>C" "" "likely pathogenic" "" "0000061298" "1" "70" "11" "64527264" "64527264" "subst" "0" "01257" "PYGM_000107" "g.64527264A>G" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64759792A>G" "" "likely pathogenic" "" "0000061299" "1" "70" "11" "64527241" "64527263" "del" "0" "01257" "PYGM_000118" "g.64527241_64527263del" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64759769_64759791del" "" "likely pathogenic" "" "0000061300" "1" "70" "11" "64527219" "64527219" "subst" "0" "01257" "PYGM_000133" "g.64527219T>C" "" "{PMID:abstract 21880526:21880526}" "" "" "" "Unknown" "" "" "0" "" "" "g.64759747T>C" "" "likely pathogenic" "" "0000061301" "1" "70" "11" "64527217" "64527219" "del" "0" "01257" "PYGM_000134" "g.64527217_64527219del" "" "{PMID:abstract 21880526:21880526}" "" "158_160delACT" "" "Unknown" "" "" "0" "" "" "g.64759745_64759747del" "" "likely pathogenic" "" "0000061302" "1" "70" "11" "64527212" "64527212" "subst" "0" "01257" "PYGM_000034" "g.64527212G>C" "" "{PMID:abstract 11809171:11809171}" "" "Y52X" "" "Unknown" "" "" "0" "" "" "g.64759740G>C" "" "likely pathogenic" "" "0000061303" "1" "70" "11" "64527205" "64527209" "del" "0" "01502" "PYGM_000120" "g.64527205_64527209del" "" "{PMID:Vieitez I et al. 2011:21802952}" "" "164_168delCTCTG" "" "Unknown" "" "" "0" "" "" "g.64759733_64759737del" "" "likely pathogenic" "" "0000061304" "1" "70" "11" "64527156" "64527162" "dup" "0" "01257" "PYGM_000074" "g.64527156_64527162dup" "" "{PMID:abstract 17221871:17221871}" "" "212_218dupCGCAGCA" "" "Unknown" "" "" "0" "" "" "g.64759684_64759690dup" "" "likely pathogenic" "" "0000061305" "1" "70" "11" "64527146" "64527146" "subst" "0.00000407193" "01257" "PYGM_000136" "g.64527146G>T" "" "{PMID:abstract 21880526:21880526}" "" "" "" "Unknown" "" "" "0" "" "" "g.64759674G>T" "" "likely pathogenic" "" "0000061306" "1" "70" "11" "64526173" "64526173" "subst" "0.00000406263" "01257" "PYGM_000076" "g.64526173T>A" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758701T>A" "" "likely pathogenic" "" "0000061307" "1" "70" "11" "64526165" "64526165" "subst" "0" "01257" "PYGM_000038" "g.64526165G>T" "" "{PMID:abstract 12508303:12508303}" "" "Y84X" "" "Unknown" "" "" "0" "" "" "g.64758693G>T" "" "likely pathogenic" "" "0000061308" "1" "70" "11" "64526140" "64526140" "subst" "0.0000365497" "01257" "PYGM_000039" "g.64526140G>A" "" "{PMID:abstract 12508303:12508303}" "" "R93W" "" "Unknown" "" "" "0" "" "" "g.64758668G>A" "" "likely pathogenic" "" "0000061309" "1" "70" "11" "64526116" "64526116" "del" "0" "01257" "PYGM_000063" "g.64526116del" "" "{PMID:abstract 16786513:16786513}" "" "p.N102DfsX4" "" "Unknown" "" "" "0" "" "" "g.64758644del" "" "likely pathogenic" "" "0000061310" "1" "70" "11" "64526079" "64526079" "del" "0" "01257" "PYGM_000137" "g.64526079del" "" "{PMID:abstract 21880526:21880526}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758607del" "" "likely pathogenic" "" "0000061311" "1" "70" "11" "64525986" "64525986" "subst" "0.000048742" "01257" "PYGM_000019" "g.64525986A>G" "" "{PMID:abstract 10417800:10417800}" "" "L115P" "" "Unknown" "" "" "0" "" "" "g.64758514A>G" "" "likely pathogenic" "" "0000061312" "1" "70" "11" "64525960" "64525960" "subst" "0" "01257" "PYGM_000032" "g.64525960C>A" "" "{PMID:abstract 11706962:11706962}" "" "E124X" "" "Unknown" "" "" "0" "" "" "g.64758488C>A" "" "likely pathogenic" "" "0000061313" "1" "70" "11" "64525931" "64525931" "del" "0" "01257" "PYGM_000077" "g.64525931del" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758459del" "" "likely pathogenic" "" "0000061314" "1" "70" "11" "64525930" "64525930" "subst" "0.0000121873" "01257" "PYGM_000111" "g.64525930C>T" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758458C>T" "" "likely pathogenic" "" "0000061315" "1" "70" "11" "64525926" "64525926" "subst" "0" "01257" "PYGM_000088" "g.64525926C>T" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758454C>T" "" "likely pathogenic" "" "0000061316" "1" "70" "11" "64525930" "64525930" "del" "0" "01257" "PYGM_000139" "g.64525930del" "" "{PMID:abstract 22250184:22250184}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758458del" "" "likely pathogenic" "" "0000061317" "1" "70" "11" "64525918" "64525918" "subst" "0.0000243833" "01257" "PYGM_000044" "g.64525918G>A" "" "{PMID:abstract 14748827:14748827}" "" "R138W" "" "Unknown" "" "" "0" "" "" "g.64758446G>A" "" "likely pathogenic" "" "0000061318" "1" "70" "11" "64525788" "64525788" "subst" "0" "01257" "PYGM_000127" "g.64525788A>G" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758316A>G" "" "likely pathogenic" "" "0000061319" "1" "70" "11" "64525788" "64525788" "subst" "0" "01257" "PYGM_000128" "g.64525788A>C" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758316A>C" "" "likely pathogenic" "" "0000061320" "1" "70" "11" "64525776" "64525776" "subst" "0" "01257" "PYGM_000098" "g.64525776C>A" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758304C>A" "" "likely pathogenic" "" "0000061321" "1" "70" "11" "64525771" "64525771" "subst" "0.0000203075" "01257" "PYGM_000064" "g.64525771C>T" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758299C>T" "" "likely pathogenic" "" "0000061322" "1" "70" "11" "64525765" "64525765" "subst" "0.00000812275" "01257" "PYGM_000099" "g.64525765G>A" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758293G>A" "" "likely pathogenic" "" "0000061323" "1" "70" "11" "64525738" "64525740" "del" "0" "01257" "PYGM_000089" "g.64525738_64525740del" "" "{PMID:abstract 17324573:17324573}" "" "509_511delAGA" "" "Unknown" "" "" "0" "" "" "g.64758266_64758268del" "" "likely pathogenic" "" "0000061324" "1" "70" "11" "64525725" "64525725" "subst" "0" "01257" "PYGM_000078" "g.64525725C>T" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758253C>T" "" "likely pathogenic" "" "0000061325" "1" "70" "11" "64525331" "64525331" "subst" "0.0000121879" "01257" "PYGM_000023" "g.64525331G>A" "" "{PMID:abstract 10679948:10679948}" "" "R193W" "" "Unknown" "" "" "0" "" "" "g.64757859G>A" "" "likely pathogenic" "" "0000061326" "1" "90" "11" "64525298" "64525298" "subst" "0.000138138" "01257" "PYGM_000003" "g.64525298C>T" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0002}" "" "G204S" "" "Unknown" "" "rs119103251" "0" "" "" "g.64757826C>T" "" "pathogenic" "" "0000061327" "1" "70" "11" "64525297" "64525297" "subst" "0.0000162516" "01257" "PYGM_000129" "g.64525297C>T" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64757825C>T" "" "likely pathogenic" "" "0000061328" "1" "70" "11" "64525279" "64525279" "del" "0" "01257" "PYGM_000142" "g.64525279del" "" "{PMID:abstract 22608882:22608882}" "" "" "" "Unknown" "" "" "0" "" "" "g.64757807del" "" "likely pathogenic" "" "0000061329" "1" "30" "11" "64525266" "64525266" "subst" "0.00451915" "01257" "PYGM_000018" "g.64525266C>T" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "RNA expression 0.05" "Unknown" "" "" "0" "" "" "g.64757794C>T" "" "likely benign" "" "0000061330" "1" "70" "11" "64523002" "64523002" "subst" "0" "01257" "PYGM_000065" "g.64523002G>C" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64755530G>C" "" "likely pathogenic" "" "0000061331" "1" "70" "11" "64522974" "64522976" "del" "0" "01257" "PYGM_000066" "g.64522974_64522976del" "" "{PMID:abstract 16786513:16786513}" "" "715_717delGTC" "" "Unknown" "" "" "0" "" "" "g.64755502_64755504del" "" "likely pathogenic" "" "0000061332" "1" "70" "11" "64522955" "64522955" "subst" "0" "01257" "PYGM_000130" "g.64522955A>G" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64755483A>G" "" "likely pathogenic" "" "0000061333" "1" "70" "11" "64522792" "64522792" "subst" "0.0000284289" "01257" "PYGM_000033" "g.64522792G>A" "" "{PMID:abstract 11749054:11749054}" "" "R269X" "" "Unknown" "" "" "0" "" "" "g.64755320G>A" "" "likely pathogenic" "" "0000061334" "1" "70" "11" "64522289" "64522289" "subst" "0.00000814319" "01257" "PYGM_000008" "g.64522289A>G" "" "{PMID:abstract 8279469:8279469}" "" "L291P" "" "Unknown" "" "" "0" "" "" "g.64754817A>G" "" "likely pathogenic" "" "0000061335" "1" "70" "11" "64522272" "64522272" "dup" "0" "01257" "PYGM_000131" "g.64522272dup" "" "{PMID:abstract 21802952:21802952}" "" "Y298LfsX35" "" "Unknown" "" "" "0" "" "" "g.64754800dup" "" "likely pathogenic" "" "0000061336" "1" "70" "11" "64522194" "64522194" "subst" "0" "01257" "PYGM_000141" "g.64522194G>C" "" "{PMID:abstract 22250184:22250184}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754722G>C" "" "likely pathogenic" "" "0000061337" "1" "70" "11" "64521807" "64521807" "subst" "0.00000407196" "01257" "PYGM_000090" "g.64521807T>C" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754335T>C" "" "likely pathogenic" "" "0000061338" "1" "70" "11" "64521772" "64521772" "subst" "0" "01257" "PYGM_000027" "g.64521772C>T" "" "{PMID:abstract 11706962:11706962}" "" "E348K" "" "Unknown" "" "" "0" "" "" "g.64754300C>T" "" "likely pathogenic" "" "0000061339" "1" "70" "11" "64521756" "64521756" "subst" "0" "01257" "PYGM_000105" "g.64521756A>G" "" "{PMID:abstract 19309804:19309804}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754284A>G" "" "likely pathogenic" "" "0000061340" "1" "70" "11" "64521731" "64521731" "subst" "0" "01257" "PYGM_000048" "g.64521731C>T" "" "{PMID:abstract 16786513:16786513}" "" "W361X" "" "Unknown" "" "" "0" "" "" "g.64754259C>T" "" "likely pathogenic" "" "0000061341" "1" "70" "11" "64521496" "64521496" "subst" "0.00069986" "01257" "PYGM_000051" "g.64521496G>A" "" "{PMID:abstract 16786513:16786513}" "" "p.A365E" "" "Unknown" "" "" "0" "" "" "g.64754024G>A" "" "likely pathogenic" "" "0000061342" "1" "70" "11" "64521492" "64521492" "subst" "0" "01257" "PYGM_000117" "g.64521492C>T" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754020C>T" "" "likely pathogenic" "" "0000061343" "1" "70" "11" "64521461" "64521461" "subst" "0" "01257" "PYGM_000108" "g.64521461T>A" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753989T>A" "" "likely pathogenic" "" "0000061344" "1" "70" "11" "64521454" "64521454" "subst" "0" "01257" "PYGM_000079" "g.64521454G>A" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753982G>A" "" "likely pathogenic" "" "0000061345" "1" "70" "11" "64521443" "64521443" "subst" "0.00000873713" "01257" "PYGM_000091" "g.64521443C>T" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753971C>T" "" "likely pathogenic" "" "0000061346" "1" "70" "11" "64521439" "64521439" "subst" "0" "01257" "PYGM_000052" "g.64521439G>T" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753967G>T" "" "likely pathogenic" "" "0000061347" "1" "70" "11" "64521434" "64521435" "del" "0" "01257" "PYGM_000092" "g.64521434_64521435del" "" "{PMID:abstract 17404776:17404776}" "" "1155_1156delGG" "" "Unknown" "" "" "0" "" "" "g.64753962_64753963del" "" "likely pathogenic" "" "0000061348" "1" "70" "11" "64521421" "64521428" "delins" "0" "01257" "PYGM_000026" "g.64521421_64521428delinsT" "" "{PMID:abstract 11168025:11168025}" "" "insA/del 8 bp in exon 10" "" "Unknown" "" "" "0" "" "" "g.64753949_64753956delinsT" "" "likely pathogenic" "" "0000061349" "1" "70" "11" "64521400" "64521400" "subst" "0" "01257" "PYGM_000011" "g.64521400A>G" "" "{PMID:abstract 8535454:8535454}" "" "L396P" "" "Unknown" "" "" "0" "" "" "g.64753928A>G" "" "likely pathogenic" "" "0000061350" "1" "70" "11" "64521397" "64521397" "subst" "0" "01257" "PYGM_000132" "g.64521397G>A" "" "{PMID:abstract 21880526:21880526}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753925G>A" "" "likely pathogenic" "" "0000061351" "1" "70" "11" "64521112" "64521112" "subst" "0" "01257" "PYGM_000054" "g.64521112G>A" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753640G>A" "" "likely pathogenic" "" "0000061352" "1" "70" "11" "64521069" "64521069" "subst" "0" "01257" "PYGM_000138" "g.64521069A>T" "" "{PMID:abstract 22250184:22250184}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753597A>T" "" "likely pathogenic" "" "0000061353" "1" "70" "11" "64521049" "64521049" "subst" "0" "01257" "PYGM_000080" "g.64521049C>G" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753577C>G" "" "likely pathogenic" "" "0000061354" "1" "70" "11" "64521045" "64521045" "subst" "0.0000311485" "01257" "PYGM_000093" "g.64521045G>A" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753573G>A" "" "likely pathogenic" "" "0000061355" "1" "70" "11" "64521040" "64521040" "dup" "0" "01257" "PYGM_000094" "g.64521040dup" "" "{PMID:abstract 17404776:17404776}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64753568dupG" "" "likely pathogenic" "" "0000061356" "1" "70" "11" "64521004" "64521036" "del" "0" "01257" "PYGM_000104" "g.64521004_64521036del" "" "{PMID:abstract 19309802:19309802}" "" "C.1361_1393del" "" "Unknown" "" "" "0" "" "" "g.64753532_64753564del" "" "likely pathogenic" "" "0000061357" "1" "70" "11" "64521031" "64521031" "subst" "0.00000459407" "01257" "PYGM_000147" "g.64521031C>G" "" "{PMID:Viéitez 2009:19309783}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753559C>G" "" "likely pathogenic" "" "0000061358" "1" "70" "11" "64521028" "64521028" "subst" "0.0000184944" "01257" "PYGM_000041" "g.64521028C>T" "" "{PMID:abstract 14568816:14568816}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753556C>T" "" "likely pathogenic" "" "0000061359" "1" "70" "11" "64520606" "64520606" "subst" "0" "01257" "PYGM_000095" "g.64520606C>T" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753134C>T" "" "likely pathogenic" "" "0000061360" "1" "70" "11" "64520600" "64520600" "subst" "0" "01257" "PYGM_000024" "g.64520600G>T" "" "{PMID:abstract 10714589:10714589}" "" "T487N" "" "Unknown" "" "" "0" "" "" "g.64753128G>T" "" "likely pathogenic" "" "0000061361" "1" "70" "11" "64520600" "64520600" "subst" "0" "01257" "PYGM_000081" "g.64520600G>A" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753128G>A" "" "likely pathogenic" "" "0000061362" "1" "70" "11" "64520597" "64520597" "subst" "0.00000406068" "01257" "PYGM_000115" "g.64520597G>C" "" "{PMID:abstract 21658951:21658951}" "" "Pro488Arg" "" "Unknown" "" "" "0" "" "" "g.64753125G>C" "" "likely pathogenic" "" "0000061363" "1" "70" "11" "64520595" "64520595" "subst" "0.0000081215" "01257" "PYGM_000071" "g.64520595G>A" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753123G>A" "" "likely pathogenic" "" "0000061364" "1" "70" "11" "64520594" "64520594" "subst" "0" "01257" "PYGM_000082" "g.64520594C>T" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753122C>T" "" "likely pathogenic" "" "0000061365" "1" "70" "11" "64520594" "64520594" "dup" "0" "01257" "PYGM_000072" "g.64520594dup" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753122dup" "" "likely pathogenic" "" "0000061366" "1" "70" "11" "64520592" "64520592" "subst" "0.00000812163" "01257" "PYGM_000055" "g.64520592G>A" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753120G>A" "" "likely pathogenic" "" "0000061367" "1" "70" "11" "64520588" "64520588" "subst" "0" "01257" "PYGM_000056" "g.64520588C>T" "" "{PMID:abstract 16786513:16786513}" "" "p.R492X" "" "Unknown" "" "" "0" "" "" "g.64753116C>T" "" "likely pathogenic" "" "0000061368" "1" "70" "11" "64520584" "64520584" "del" "0" "01257" "PYGM_000035" "g.64520584del" "" "{PMID:abstract 11949935:11949935}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753112del" "" "likely pathogenic" "" "0000061369" "3" "70" "11" "64519965" "64519965" "del" "0" "01257" "PYGM_000006" "g.64519965del" "" "{PMID:Tsujino 1994:07951211}" "" "p.D510fs" "" "Unknown" "" "" "0" "" "" "g.64752493del" "" "likely pathogenic" "" "0000061370" "1" "70" "11" "64519958" "64519958" "subst" "0.00301907" "01257" "PYGM_000144" "g.64519958T>C" "" "{PMID:abstract 23653251:23653251}" "" "" "" "Unknown" "" "" "0" "" "" "g.64752486T>C" "" "likely pathogenic" "" "0000061371" "1" "70" "11" "64519894" "64519894" "del" "0" "01257" "PYGM_000028" "g.64519894del" "" "{PMID:abstract 11706962:11706962}" "" "" "" "Unknown" "" "" "0" "" "" "g.64752422del" "" "likely pathogenic" "" "0000061372" "1" "70" "11" "64519543" "64519543" "subst" "0" "01257" "PYGM_000020" "g.64519543C>A" "" "{PMID:abstract 10450796:10450796}" "" "E540X" "" "Unknown" "" "" "0" "" "" "g.64752071C>A" "" "likely pathogenic" "" "0000061373" "1" "70" "11" "64519537" "64519537" "subst" "0" "01257" "PYGM_000057" "g.64519537T>A" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64752065T>A" "" "likely pathogenic" "" "0000061374" "2" "70" "11" "64519536" "64519536" "subst" "0" "01257" "PYGM_000004" "g.64519536T>G" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0003}" "" "L542T" "" "Unknown" "" "rs119103252" "0" "" "" "g.64752064T>G" "" "likely pathogenic" "" "0000061375" "1" "70" "11" "64519455" "64519455" "subst" "0.0000162427" "01257" "PYGM_000083" "g.64519455C>T" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751983C>T" "" "likely pathogenic" "" "0000061376" "1" "70" "11" "64519456" "64519456" "subst" "0.0000162423" "01257" "PYGM_000096" "g.64519456G>A" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751984G>A" "" "likely pathogenic" "" "0000061377" "1" "70" "11" "64519442" "64519442" "subst" "0" "01257" "PYGM_000040" "g.64519442A>C" "" "{PMID:abstract 12929201:12929201}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751970A>C" "" "likely pathogenic" "" "0000061378" "1" "70" "11" "64519441" "64519441" "subst" "0" "01257" "PYGM_000097" "g.64519441T>C" "" "{PMID:abstract 17404776:17404776}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751969T>C" "" "likely pathogenic" "" "0000061379" "1" "70" "11" "64519438" "64519438" "subst" "0.0000406078" "01257" "PYGM_000014" "g.64519438G>A" "" "{PMID:abstract 9506549:9506549}" "" "R575X" "" "Unknown" "" "" "0" "" "" "g.64751966G>A" "" "likely pathogenic" "" "0000061380" "1" "70" "11" "64519434" "64519434" "subst" "0" "01257" "PYGM_000073" "g.64519434T>C" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751962T>C" "" "likely pathogenic" "" "0000061381" "1" "70" "11" "64519404" "64519404" "subst" "0.0000121842" "01257" "PYGM_000047" "g.64519404A>G" "" "{PMID:abstract 16154688:16154688}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751932A>G" "" "likely pathogenic" "" "0000061382" "1" "70" "11" "64519127" "64519127" "subst" "0.0000121844" "01257" "PYGM_000084" "g.64519127C>T" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751655C>T" "" "likely pathogenic" "" "0000061383" "1" "70" "11" "64519104" "64519104" "del" "0" "01257" "PYGM_000043" "g.64519104del" "" "{PMID:abstract 14748827:14748827}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751632del" "" "likely pathogenic" "" "0000061384" "1" "70" "11" "64519092" "64519092" "subst" "0.0000162439" "01257" "PYGM_000029" "g.64519092G>A" "" "{PMID:abstract 11706962:11706962}" "" "R601W" "" "Unknown" "" "" "0" "" "" "g.64751620G>A" "" "likely pathogenic" "" "0000061385" "1" "70" "11" "64519091" "64519091" "subst" "0.000146193" "01257" "PYGM_000037" "g.64519091C>T" "" "{PMID:abstract 12398832:12398832}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751619C>T" "" "likely pathogenic" "" "0000061386" "1" "70" "11" "64519069" "64519069" "subst" "0.0000081215" "01257" "PYGM_000042" "g.64519069C>T" "" "{PMID:abstract 14638972:14638972}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751597C>T" "" "likely pathogenic" "" "0000061387" "1" "70" "11" "64518824" "64518824" "subst" "0" "01257" "PYGM_000135" "g.64518824T>A" "" "{PMID:abstract 21880526:21880526}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751352T>A" "" "likely pathogenic" "" "0000061388" "1" "70" "11" "64518818" "64518818" "subst" "0" "01257" "PYGM_000085" "g.64518818G>A" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751346G>A" "" "likely pathogenic" "" "0000061389" "1" "70" "11" "64518819" "64518819" "del" "0" "01257" "PYGM_000121" "g.64518819del" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751347del" "" "likely pathogenic" "" "0000061390" "1" "70" "11" "64518803" "64518803" "subst" "0.0000121866" "01257" "PYGM_000012" "g.64518803C>T" "" "{PMID:abstract 8535454:8535454}" "" "" "" "Unknown" "" "" "0" "" "" "g.64751331C>T" "" "likely pathogenic" "" "0000061391" "1" "70" "11" "64517849" "64518056" "del" "0" "01257" "PYGM_000058" "g.64517849_64518056del" "" "{PMID:abstract 16786513:16786513}" "" "p.G657_G726" "" "Unknown" "" "" "0" "" "" "g.64750377_64750584del" "" "likely pathogenic" "" "0000061392" "1" "70" "11" "64518046" "64518046" "subst" "0" "01257" "PYGM_000025" "g.64518046G>T" "" "{PMID:abstract 10899452:10899452}" "" "A659D" "" "Unknown" "" "" "0" "" "" "g.64750574G>T" "" "likely pathogenic" "" "0000061393" "1" "70" "11" "64518040" "64518040" "subst" "0" "01257" "PYGM_000101" "g.64518040T>G" "" "{PMID:abstract 18386378:18386378}" "" "661 Asp-Ala" "" "Unknown" "" "" "0" "" "" "g.64750568T>G" "" "likely pathogenic" "" "0000061394" "1" "70" "11" "64518029" "64518029" "subst" "0" "01257" "PYGM_000015" "g.64518029G>C" "" "{PMID:abstract 9506549:9506549}" "" "E665Q" "" "Unknown" "" "" "0" "" "" "g.64750557G>C" "" "likely pathogenic" "" "0000061395" "1" "70" "11" "64518016" "64518016" "subst" "0.00501206" "01257" "PYGM_000113" "g.64518016G>A" "" "{PMID:abstract 20108426:20108426}" "" "" "" "Unknown" "" "" "0" "" "" "g.64750544G>A" "" "likely pathogenic" "" "0000061396" "1" "70" "11" "64517972" "64517972" "subst" "0" "01257" "PYGM_000002" "g.64517972T>A" "" "{PMID:abstract 10382911:10382911}" "" "N684Y" "" "Unknown" "" "" "0" "" "" "g.64750500T>A" "" "likely pathogenic" "" "0000061397" "1" "70" "11" "64517969" "64517969" "subst" "0.0000527902" "01257" "PYGM_000016" "g.64517969C>T" "" "{PMID:abstract 9506549:9506549}" "" "G685R" "" "Unknown" "" "" "0" "" "" "g.64750497C>T" "" "likely pathogenic" "" "0000061398" "1" "70" "11" "64517966" "64517966" "subst" "0" "01257" "PYGM_000036" "g.64517966C>G" "" "{PMID:abstract 12031624:12031624}" "" "A686P" "" "Unknown" "" "" "0" "" "" "g.64750494C>G" "" "likely pathogenic" "" "0000061399" "1" "70" "11" "64517949" "64517950" "delins" "0" "01257" "PYGM_000045" "g.64517949_64517950delinsTTT" "" "{PMID:abstract 15262743:15262743}" "" "691delCC/insAAA" "" "Unknown" "" "" "0" "" "" "g.64750477_64750478delinsTTT" "" "likely pathogenic" "" "0000061400" "1" "70" "11" "64517942" "64517942" "subst" "0.0000243643" "01257" "PYGM_000068" "g.64517942C>T" "" "{PMID:abstract 16924035:16924035}" "" "" "" "Unknown" "" "" "0" "" "" "g.64750470C>T" "" "likely pathogenic" "" "0000061401" "1" "70" "11" "64517914" "64517914" "subst" "0.00000812196" "01257" "PYGM_000030" "g.64517914G>A" "" "{PMID:Martin 2001:11706962}" "" "A703V" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64750442G>A" "" "likely pathogenic (recessive)" "" "0000061402" "1" "70" "11" "64517912" "64517913" "del" "0" "01257" "PYGM_000059" "g.64517912_64517913del" "" "{PMID:abstract 16786513:16786513}" "" "2113_2114delGG" "" "Unknown" "" "" "0" "" "" "g.64750440_64750441del" "" "likely pathogenic" "" "0000061403" "1" "70" "11" "64517899" "64517901" "del" "0" "01257" "PYGM_000009" "g.64517899_64517901del" "" "{PMID:abstract 8279469:8279469}" "" "2128_2130delTTC" "" "Unknown" "" "" "0" "" "" "g.64750427_64750429del" "" "likely pathogenic" "" "0000061404" "1" "70" "11" "64517882" "64517882" "subst" "0.00000812163" "01257" "PYGM_000086" "g.64517882G>A" "" "{PMID:abstract 17324573:17324573}" "" "" "" "Unknown" "" "" "0" "" "" "g.64750410G>A" "" "likely pathogenic" "" "0000061405" "1" "70" "11" "64514809" "64514809" "subst" "0.0000121828" "01257" "PYGM_000122" "g.64514809G>C" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64747337G>C" "" "likely pathogenic" "" "0000061406" "1" "70" "11" "64514748" "64514748" "del" "0" "01257" "PYGM_000017" "g.64514748del" "" "{PMID:abstract 9633816:9633816}" "" "753 delA" "" "Unknown" "" "" "0" "" "" "g.64747276del" "" "likely pathogenic" "" "0000061407" "1" "70" "11" "64514745" "64514745" "subst" "0" "01257" "PYGM_000031" "g.64514745G>A" "" "{PMID:abstract 11706962:11706962}" "" "Q754X" "" "Unknown" "" "" "0" "" "" "g.64747273G>A" "" "likely pathogenic" "" "0000061408" "1" "70" "11" "64514697" "64514698" "dup" "0" "01257" "PYGM_000114" "g.64514697_64514698dup" "" "{PMID:abstract 20957198:20957198}" "" "2310_2311dupCC" "" "Unknown" "" "" "0" "" "" "g.64747225_64747226dup" "" "likely pathogenic" "" "0000061409" "1" "70" "11" "64514696" "64514696" "subst" "0.00000406088" "01257" "PYGM_000123" "g.64514696C>T" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64747224C>T" "" "likely pathogenic" "" "0000061410" "1" "70" "11" "64514435" "64514437" "del" "0" "01257" "PYGM_000102" "g.64514435_64514437del" "" "{PMID:abstract 18667317:18667317}" "" "2337_2339delAGA" "" "Unknown" "" "" "0" "" "" "g.64746963_64746965del" "" "likely pathogenic" "" "0000061411" "1" "70" "11" "64514420" "64514420" "subst" "0" "01257" "PYGM_000075" "g.64514420G>T" "" "{PMID:abstract 17221871:17221871}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746948G>T" "" "likely pathogenic" "" "0000061412" "1" "70" "11" "64514419" "64514419" "subst" "0" "01257" "PYGM_000124" "g.64514419G>A" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746947G>A" "" "likely pathogenic" "" "0000061413" "1" "70" "11" "64514274" "64514275" "del" "0.00000406058" "01257" "PYGM_000022" "g.64514274_64514275del" "" "{PMID:abstract 10679948:10679948}" "" "794/795 delAA" "" "Unknown" "" "" "0" "" "" "g.64746802_64746803del" "" "likely pathogenic" "" "0000061414" "1" "70" "11" "64514268" "64514268" "subst" "0.0000162422" "01257" "PYGM_000021" "g.64514268A>G" "" "{PMID:abstract 10590419:10590419}" "" "W797R" "" "Unknown" "" "" "0" "" "" "g.64746796A>G" "" "likely pathogenic" "" "0000061415" "1" "70" "11" "64514238" "64514238" "subst" "0" "01257" "PYGM_000125" "g.64514238T>G" "" "{PMID:abstract 21802952:21802952}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746766T>G" "" "likely pathogenic" "" "0000061416" "1" "70" "11" "64514235" "64514235" "dup" "0" "01257" "PYGM_000126" "g.64514235dup" "" "{PMID:abstract 21802952:21802952}" "" "S809FfsX6" "" "Unknown" "" "" "0" "" "" "g.64746763dup" "" "likely pathogenic" "" "0000061417" "1" "70" "11" "64514230" "64514230" "subst" "0" "01257" "PYGM_000109" "g.64514230G>A" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746758G>A" "" "likely pathogenic" "" "0000061418" "1" "70" "11" "64514219" "64514219" "subst" "0" "01257" "PYGM_000103" "g.64514219C>T" "" "{PMID:abstract 18808785:18808785}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746747C>T" "" "likely pathogenic" "" "0000061419" "1" "70" "11" "64514216" "64514216" "subst" "0" "01257" "PYGM_000061" "g.64514216T>G" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746744T>G" "" "likely pathogenic" "" "0000061420" "1" "70" "11" "64514195" "64514195" "subst" "0" "01257" "PYGM_000110" "g.64514195G>T" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746723G>T" "" "likely pathogenic" "" "0000061421" "1" "70" "11" "64514183" "64514183" "subst" "0" "01257" "PYGM_000062" "g.64514183C>G" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64746711C>G" "" "likely pathogenic" "" "0000061422" "1" "70" "11" "64525847" "64525847" "subst" "0.0000529019" "01257" "PYGM_000106" "g.64525847T>C" "" "{PMID:abstract 19433441:19433441}" "" "" "" "Unknown" "" "" "0" "" "" "g.64758375T>C" "" "likely pathogenic" "" "0000061423" "1" "90" "11" "64525726" "64525726" "subst" "0" "01257" "PYGM_000146" "g.64525726C>T" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "RNA expression 1.54\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64758254C>T" "" "pathogenic" "" "0000061424" "1" "70" "11" "64522909" "64522909" "subst" "0" "01257" "PYGM_000069" "g.64522909C>T" "" "{PMID:abstract 16924035:16924035}" "" "IVS5-601G>A" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64755437C>T" "" "likely pathogenic" "" "0000061425" "1" "70" "11" "64522921" "64522921" "subst" "0" "01257" "PYGM_000100" "g.64522921T>A" "" "{PMID:abstract 17404776:17404776}" "" "IVS6-2A>T" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64755449T>A" "" "likely pathogenic" "" "0000061426" "1" "70" "11" "64522744" "64522744" "subst" "0" "01257" "PYGM_000067" "g.64522744C>G" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64755272C>G" "" "likely pathogenic" "" "0000061427" "1" "70" "11" "64522740" "64522740" "subst" "0.0000121882" "01257" "PYGM_000140" "g.64522740C>T" "" "{PMID:abstract 22250184:22250184}" "" "" "" "Unknown" "" "" "0" "" "" "g.64755268C>T" "" "likely pathogenic" "" "0000061428" "1" "70" "11" "64522145" "64522145" "subst" "0.0011047" "01257" "PYGM_000112" "g.64522145G>A" "" "{PMID:abstract 19472443:19472443}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754673G>A" "" "likely pathogenic" "" "0000061429" "1" "70" "11" "64521724" "64521724" "subst" "0.0000121919" "01257" "PYGM_000050" "g.64521724C>T" "" "{PMID:abstract 16786513:16786513}" "" "" "" "Unknown" "" "" "0" "" "" "g.64754252C>T" "" "likely pathogenic" "" "0000061430" "1" "70" "11" "64521726" "64521726" "subst" "0" "01257" "PYGM_000049" "g.64521726C>A" "" "{PMID:abstract 16786513:16786513}" "" "c.1093-1G>T" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64754254C>A" "" "likely pathogenic" "" "0000061431" "1" "70" "11" "64521350" "64521350" "subst" "0" "01257" "PYGM_000053" "g.64521350C>T" "" "{PMID:abstract 16786513:16786513}" "" "IVS10 + 1G > A" "" "Unknown" "" "" "0" "" "" "g.64753878C>T" "" "likely pathogenic" "" "0000061432" "1" "70" "11" "64519395" "64519395" "subst" "0.0000243696" "01257" "PYGM_000010" "g.64519395C>T" "" "{PMID:abstract 8279469:8279469}" "" "(1844+1GA); IVS14+1G>A; p.V568AfsX16" "" "Unknown" "" "" "0" "" "" "g.64751923C>T" "" "likely pathogenic" "" "0000061433" "1" "90" "11" "64517479" "64518583" "del" "0" "01257" "PYGM_000145" "g.64517479_64518583del" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "" "RNA expression 0.03; no muscle myophosphorylase activity" "Unknown" "" "" "0" "" "" "g.64750007_64751111del" "" "pathogenic" "" "0000061434" "1" "70" "11" "64514693" "64514693" "subst" "0" "01257" "PYGM_000087" "g.64514693C>G" "" "{PMID:abstract 17324573:17324573}" "" "IVS18+3G > C" "" "Unknown" "" "" "0" "" "" "g.64747221C>G" "" "likely pathogenic" "" "0000061435" "1" "70" "11" "64514394" "64514394" "subst" "0" "01257" "PYGM_000060" "g.64514394C>T" "" "{PMID:abstract 16786513:16786513}" "" "c.2380-1G>A" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64746922C>T" "" "likely pathogenic" "" "0000061436" "1" "70" "11" "64514268" "64514268" "subst" "0" "01257" "PYGM_000000" "g.64514268A>K" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "W798R" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.64746796A>K" "" "likely pathogenic" "" "0000061437" "3" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0001}" "" "R49X" "" "Unknown" "" "rs116987552" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061438" "3" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0001}" "" "R49X" "" "Unknown" "" "rs116987552" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061439" "1" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0001}" "" "R49X" "" "Unknown" "" "rs116987552" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061440" "21" "90" "11" "64525298" "64525298" "subst" "0.000138138" "01257" "PYGM_000003" "g.64525298C>T" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0002}" "" "G204S" "" "Unknown" "" "rs119103251" "0" "" "" "g.64757826C>T" "" "pathogenic" "" "0000061441" "11" "70" "11" "64519536" "64519536" "subst" "0" "01257" "PYGM_000004" "g.64519536T>G" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0003}" "" "L542T" "" "Unknown" "" "rs119103252" "0" "" "" "g.64752064T>G" "" "likely pathogenic" "" "0000061442" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "R50X" "" "Unknown" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061443" "21" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0001}" "" "R49X" "" "Germline" "" "rs116987552" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061444" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01257" "PYGM_000002" "g.64527223G>A" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "R50X" "no RNA detected" "Unknown" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000061445" "2" "70" "11" "64525298" "64525298" "subst" "0.000138138" "01257" "PYGM_000003" "g.64525298C>T" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "G205S" "" "Unknown" "" "" "0" "" "" "g.64757826C>T" "" "likely pathogenic" "" "0000061446" "2" "90" "11" "64525298" "64525298" "subst" "0.000138138" "01257" "PYGM_000003" "g.64525298C>T" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0002}" "" "G204S" "" "Germline" "" "rs119103251" "0" "" "" "g.64757826C>T" "" "pathogenic" "" "0000061447" "2" "30" "11" "64525266" "64525266" "subst" "0.00451915" "01257" "PYGM_000018" "g.64525266C>T" "" "{PMID:Garcia-Consuegra 2009:19251976}" "" "K215K" "" "Unknown" "" "" "0" "" "" "g.64757794C>T" "" "likely benign" "" "0000061448" "11" "70" "11" "64519536" "64519536" "subst" "0" "01257" "PYGM_000004" "g.64519536T>G" "" "{PMID:Tsujino 1993:8316268}, {OMIM608455:0003}" "" "L542T" "" "Germline" "" "rs119103252" "0" "" "" "g.64752064T>G" "" "likely pathogenic" "" "0000061449" "3" "10" "11" "64521067" "64521067" "subst" "0" "00006" "PYGM_000148" "g.64521067C>A" "" "{PMID:Tsujino 1994:07951211}" "" "" "" "Unknown" "" "" "0" "" "" "g.64753595C>A" "" "benign" "" "0000061450" "3" "90" "11" "64517899" "64517901" "del" "0" "00006" "PYGM_000009" "g.64517899_64517901del" "" "{PMID:Tsujino 1994:07951211}" "" "F708/709del" "" "Germline" "yes" "" "0" "" "" "g.64750427_64750429del" "" "pathogenic" "" "0000061451" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "00006" "PYGM_000002" "g.64527223G>A" "" "{PMID:Bartram 1994:08054367}" "" "R49X" "" "Unknown" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000086634" "1" "70" "11" "64525943" "64525943" "del" "0" "01502" "PYGM_000149" "g.64525943del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64758471del" "" "likely pathogenic" "" "0000086635" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01502" "PYGM_000002" "g.64527223G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000086636" "0" "70" "11" "64526139" "64526139" "subst" "0" "01502" "PYGM_000150" "g.64526139C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64758667C>T" "" "likely pathogenic" "" "0000086637" "0" "90" "11" "64525298" "64525298" "subst" "0.000138138" "01502" "PYGM_000003" "g.64525298C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64757826C>T" "" "pathogenic" "" "0000086638" "1" "70" "11" "64527267" "64527267" "subst" "0" "01502" "PYGM_000151" "g.64527267T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64759795T>C" "" "likely pathogenic" "" "0000086639" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01502" "PYGM_000002" "g.64527223G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000116901" "3" "97" "11" "64521439" "64521439" "subst" "0" "01502" "PYGM_000152" "g.64521439G>A" "" "{PMID:Petrou P et al. 2015:26032558}" "" "" "" "Germline" "" "" "0" "" "" "g.64753967G>A" "" "pathogenic" "" "0000128882" "3" "70" "11" "64758667" "64758667" "subst" "0" "01743" "PYGM_000153" "g.64758667C>G" "" "Nabavi Nouri M, Lamhonwah AM, Tein I; to be submitted for publication" "" "" "" "Germline" "" "" "0" "" "" "g.64991195C>G" "" "likely pathogenic" "" "0000134793" "1" "70" "11" "64519437" "64519437" "subst" "0.00000406078" "01502" "PYGM_000154" "g.64519437C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.64751965C>T" "" "likely pathogenic" "" "0000134794" "2" "99" "11" "64527223" "64527223" "subst" "0.00140518" "01502" "PYGM_000002" "g.64527223G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000301327" "0" "90" "11" "64527370" "64527370" "subst" "0.0000162648" "02326" "PYGM_000013" "g.64527370T>C" "" "" "" "PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64759898T>C" "" "pathogenic" "" "0000322291" "0" "50" "11" "64521446" "64521446" "subst" "0" "01804" "PYGM_000155" "g.64521446G>C" "" "" "" "PYGM(NM_001164716.1):c.880C>G (p.(Pro294Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64753974G>C" "" "VUS" "" "0000340871" "0" "50" "11" "64525266" "64525266" "subst" "0.00451915" "02327" "PYGM_000018" "g.64525266C>T" "" "" "" "PYGM(NM_001164716.1):c.381G>A (p.K127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64757794C>T" "" "VUS" "" "0000340907" "0" "50" "11" "64522754" "64522754" "subst" "0" "02327" "PYGM_000160" "g.64522754G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64755282G>A" "" "VUS" "" "0000342492" "0" "90" "11" "64522792" "64522792" "subst" "0.0000284289" "02327" "PYGM_000033" "g.64522792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64755320G>A" "" "pathogenic" "" "0000343022" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "02327" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "" "0000343688" "0" "50" "11" "64522752" "64522752" "subst" "0.00135659" "02327" "PYGM_000159" "g.64522752T>C" "" "" "" "PYGM(NM_001164716.1):c.584A>G (p.(Asn195Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64755280T>C" "" "VUS" "" "0000348344" "0" "50" "11" "64522755" "64522755" "subst" "0" "02327" "PYGM_000162" "g.64522755G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64755283G>A" "" "VUS" "" "0000351316" "0" "10" "11" "64519062" "64519062" "subst" "0.143933" "02327" "PYGM_000157" "g.64519062T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64751590T>C" "" "benign" "" "0000544910" "0" "70" "11" "64517847" "64517847" "subst" "0.000016243" "02327" "RASGRP2_000010" "g.64517847C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64750375C>T" "" "likely pathogenic" "" "0000544911" "0" "10" "11" "64519926" "64519926" "subst" "0.0100532" "02327" "PYGM_000163" "g.64519926G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64752454G>C" "" "benign" "" "0000544912" "0" "70" "11" "64521045" "64521045" "subst" "0.0000311485" "02327" "PYGM_000093" "g.64521045G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64753573G>A" "" "likely pathogenic" "" "0000544913" "0" "50" "11" "64521463" "64521463" "subst" "0" "01804" "PYGM_000164" "g.64521463G>C" "" "" "" "PYGM(NM_001164716.1):c.863C>G (p.(Thr288Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64753991G>C" "" "VUS" "" "0000544914" "0" "30" "11" "64522752" "64522752" "subst" "0.00135659" "01804" "PYGM_000159" "g.64522752T>C" "" "" "" "PYGM(NM_001164716.1):c.584A>G (p.(Asn195Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64755280T>C" "" "likely benign" "" "0000544915" "0" "10" "11" "64525843" "64525843" "subst" "0.0371991" "02327" "PYGM_000165" "g.64525843G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64758371G>A" "" "benign" "" "0000597032" "3" "90" "11" "64517995" "64517995" "subst" "0" "03426" "PYGM_000166" "g.64517995G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64750523G>A" "" "likely pathogenic" "ACMG" "0000597745" "1" "90" "11" "64518851" "64518851" "subst" "0" "00006" "PYGM_000167" "g.64518851C>G" "" "Echaniz-Laguna WMS2019, absO5" "" "" "" "Germline" "" "" "0" "" "" "g.64751379C>G" "" "pathogenic (dominant)" "" "0000597746" "3" "90" "11" "64527247" "64527248" "ins" "0" "00006" "PYGM_000168" "g.64527247_64527248insGG" "" "{PMID:Cheraud 2018:28120463}" "" "" "" "Germline" "" "" "0" "" "" "g.64759775_64759776insGG" "" "pathogenic (recessive)" "" "0000597747" "3" "90" "11" "64527247" "64527248" "ins" "0" "00006" "PYGM_000168" "g.64527247_64527248insGG" "" "{PMID:Cheraud 2018:28120463}" "" "" "" "Germline" "" "" "0" "" "" "g.64759775_64759776insGG" "" "pathogenic (recessive)" "" "0000613532" "0" "30" "11" "64510322" "64510322" "subst" "0.000277842" "01804" "RASGRP2_000015" "g.64510322T>C" "" "" "" "RASGRP2(NM_001098670.1):c.17A>G (p.(Asp6Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64742850T>C" "" "likely benign" "" "0000613533" "0" "70" "11" "64519874" "64519874" "subst" "0.00000406223" "02327" "PYGM_000169" "g.64519874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64752402C>T" "" "likely pathogenic" "" "0000613534" "0" "50" "11" "64521406" "64521406" "subst" "0.00465605" "02327" "PYGM_000170" "g.64521406G>A" "" "" "" "PYGM(NM_001164716.1):c.920C>T (p.(Thr307Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64753934G>A" "" "VUS" "" "0000629676" "2" "90" "11" "64527223" "64527223" "subst" "0.00140518" "00006" "PYGM_000002" "g.64527223G>A" "" "{PMID:Martin 2001:11706962}" "" "R49X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic (recessive)" "" "0000629677" "0" "50" "11" "64522996" "64522996" "subst" "0" "00006" "PYGM_000172" "g.64522996G>T" "" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.64755524G>T" "" "VUS" "" "0000648329" "1" "30" "11" "64518016" "64518016" "subst" "0.00501206" "03575" "PYGM_000113" "g.64518016G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs113806080}" "Germline" "" "rs113806080" "0" "" "" "g.64750544G>A" "" "likely benign" "" "0000648330" "1" "50" "11" "64525266" "64525266" "subst" "0.00451915" "03575" "PYGM_000018" "g.64525266C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs116315896}" "Germline" "" "rs116315896" "0" "" "" "g.64757794C>T" "" "VUS" "" "0000648331" "1" "90" "11" "64525298" "64525298" "subst" "0.000138138" "03575" "PYGM_000003" "g.64525298C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs119103251}" "Germline" "" "rs119103251" "0" "" "" "g.64757826C>T" "" "pathogenic" "" "0000653529" "0" "50" "11" "64517947" "64517947" "subst" "0.0000812143" "01164" "PYGM_000173" "g.64517947A>G" "" "" "" "" "ACMG: PM2; no second variant detected in PYGM" "Germline" "" "rs200688234" "0" "" "" "g.64750475A>G" "" "VUS" "ACMG" "0000656836" "0" "70" "11" "64526140" "64526140" "subst" "0.0000365497" "02327" "PYGM_000039" "g.64526140G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64758668G>A" "" "likely pathogenic" "" "0000656837" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "02325" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64759751G>A" "" "pathogenic" "" "0000668259" "3" "90" "11" "64514213" "64514213" "subst" "0.000146185" "00006" "PYGM_000174" "g.64514213C>T" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "variants only partially accounts for phenotype" "Germline" "" "" "0" "" "" "g.64746741C>T" "" "pathogenic (recessive)" "" "0000679255" "0" "30" "11" "64522240" "64522240" "subst" "0.00145883" "01943" "PYGM_000175" "g.64522240G>A" "" "" "" "PYGM(NM_001164716.1):c.660C>T (p.I220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679256" "0" "50" "11" "64525251" "64525251" "subst" "0.00208504" "01804" "PYGM_000176" "g.64525251C>T" "" "" "" "PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691116" "0" "30" "11" "64508955" "64508955" "subst" "0.00015909" "01943" "RASGRP2_000021" "g.64508955C>T" "" "" "" "RASGRP2(NM_153819.1):c.195G>A (p.K65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691117" "0" "30" "11" "64518809" "64518809" "subst" "0.000893604" "01943" "PYGM_000177" "g.64518809G>C" "" "" "" "PYGM(NM_001164716.1):c.1693C>G (p.L565V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691118" "0" "50" "11" "64525251" "64525251" "subst" "0.00208504" "01943" "PYGM_000176" "g.64525251C>T" "" "" "" "PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691119" "0" "30" "11" "64525266" "64525266" "subst" "0.00451915" "02326" "PYGM_000018" "g.64525266C>T" "" "" "" "PYGM(NM_001164716.1):c.381G>A (p.K127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691120" "0" "30" "11" "64532875" "64532875" "subst" "0" "01943" "SF1_000007" "g.64532875C>T" "" "" "" "SF1(NM_201995.2):c.1903G>A (p.G635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697667" "0" "70" "11" "64527223" "64527223" "subst" "0.00140518" "00006" "PYGM_000002" "g.64527223G>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.64759751G>A" "" "likely pathogenic" "" "0000697668" "0" "70" "11" "64527264" "64527264" "subst" "0.00000812123" "00006" "PYGM_000116" "g.64527264A>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.64759792A>C" "" "likely pathogenic" "" "0000697669" "0" "70" "11" "64527292" "64527293" "del" "0.00000812117" "00006" "PYGM_000046" "g.64527292_64527293del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.64759820_64759821del" "" "likely pathogenic" "" "0000723558" "0" "30" "11" "64508936" "64508936" "subst" "0" "01943" "RASGRP2_000026" "g.64508936G>T" "" "" "" "RASGRP2(NM_153819.1):c.214C>A (p.Q72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723559" "0" "70" "11" "64514748" "64514748" "del" "0" "01943" "PYGM_000017" "g.64514748del" "" "" "" "PYGM(NM_001164716.1):c.1998delA (p.K666Nfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723560" "0" "90" "11" "64514748" "64514748" "del" "0" "02329" "PYGM_000017" "g.64514748del" "" "" "" "PYGM(NM_001164716.1):c.1998delA (p.K666Nfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723561" "0" "30" "11" "64519958" "64519958" "subst" "0.00301907" "01943" "PYGM_000144" "g.64519958T>C" "" "" "" "PYGM(NM_001164716.1):c.1273A>G (p.I425V), PYGM(NM_005609.4):c.1537A>G (p.I513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723562" "0" "70" "11" "64521400" "64521400" "subst" "0" "02329" "PYGM_000011" "g.64521400A>G" "" "" "" "PYGM(NM_001164716.1):c.926T>C (p.L309P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723563" "0" "30" "11" "64522155" "64522155" "subst" "0.0000408804" "01943" "PYGM_000178" "g.64522155C>T" "" "" "" "PYGM(NM_001164716.1):c.735+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723564" "0" "30" "11" "64522183" "64522183" "subst" "0.0000407465" "01943" "PYGM_000179" "g.64522183G>A" "" "" "" "PYGM(NM_001164716.1):c.717C>T (p.F239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723565" "0" "50" "11" "64522303" "64522303" "subst" "0.0000122289" "02329" "PYGM_000171" "g.64522303G>A" "" "" "" "PYGM(NM_001164716.1):c.597C>T (p.F199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723566" "0" "70" "11" "64522310" "64522310" "subst" "0" "02327" "PYGM_000180" "g.64522310T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723567" "0" "30" "11" "64522962" "64522962" "subst" "0.000162466" "02326" "PYGM_000156" "g.64522962G>A" "" "" "" "PYGM(NM_001164716.1):c.465C>T (p.R155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723568" "0" "50" "11" "64525251" "64525251" "subst" "0.00208504" "02329" "PYGM_000176" "g.64525251C>T" "" "" "" "PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723569" "0" "70" "11" "64525739" "64525739" "subst" "0" "02329" "PYGM_000181" "g.64525739C>A" "" "" "" "PYGM(NM_005609.4):c.507G>T (p.Q169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723570" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01943" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723571" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "02329" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723572" "0" "90" "11" "64527370" "64527370" "subst" "0.0000162648" "02329" "PYGM_000013" "g.64527370T>C" "" "" "" "PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763387" "0" "90" "11" "64519395" "64519395" "subst" "0.0000243696" "03219" "PYGM_000010" "g.64519395C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64751923C>T" "" "pathogenic" "ACMG" "0000763549" "3" "90" "11" "64519395" "64519395" "subst" "0.0000243696" "03219" "PYGM_000010" "g.64519395C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000763597" "0" "90" "11" "64519395" "64519395" "subst" "0.0000243696" "01502" "PYGM_000010" "g.64519395C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64751923C>T" "" "likely pathogenic" "ACMG" "0000786998" "0" "90" "11" "64521492" "64521492" "subst" "0" "00006" "PYGM_000117" "g.64521492C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.64754020C>T" "" "pathogenic" "" "0000798380" "3" "90" "11" "64520595" "64520595" "subst" "0.0000081215" "00454" "PYGM_000071" "g.64520595G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000805254" "0" "50" "11" "64514696" "64514696" "subst" "0.00000406088" "01943" "PYGM_000123" "g.64514696C>T" "" "" "" "PYGM(NM_001164716.1):c.2048G>A (p.R683Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853075" "0" "30" "11" "64514278" "64514278" "subst" "0.000609083" "02326" "RASGRP2_000034" "g.64514278G>A" "" "" "" "PYGM(NM_005609.4):c.2382C>T (p.N794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862622" "0" "30" "11" "64521406" "64521406" "subst" "0.00465605" "01804" "PYGM_000170" "g.64521406G>A" "" "" "" "PYGM(NM_001164716.1):c.920C>T (p.(Thr307Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862623" "0" "70" "11" "64521496" "64521496" "subst" "0.00069986" "01804" "PYGM_000051" "g.64521496G>A" "" "" "" "PYGM(NM_005609.2):c.1094C>T (p.(Ala365Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862624" "0" "70" "11" "64521772" "64521772" "subst" "0" "01804" "PYGM_000027" "g.64521772C>T" "" "" "" "PYGM(NM_005609.2):c.1045G>A (p.(Glu349Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862625" "0" "30" "11" "64522962" "64522962" "subst" "0.000162466" "02327" "PYGM_000156" "g.64522962G>A" "" "" "" "PYGM(NM_001164716.1):c.465C>T (p.R155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872028" "1" "90" "11" "64527223" "64527223" "subst" "0.00140518" "00006" "PYGM_000002" "g.64527223G>A" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PVS1, PS3, PM3, PP1" "Germline" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "ACMG" "0000872055" "3" "90" "11" "64527223" "64527223" "subst" "0.00140518" "00006" "PYGM_000002" "g.64527223G>A" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PVS1, PS3, PM3_Strong, PP4, BS1" "Germline" "" "" "0" "" "" "g.64759751G>A" "" "pathogenic" "ACMG" "0000872066" "2" "70" "11" "64518796" "64519128" "del" "0" "00006" "PYGM_000182" "g.(64518056_64518796)_(64519128_64519395)del" "" "{PMID:Cerino 2022:35741838}" "" "del ex15-16" "ACMG PVS1_Strong, PP4_mod" "Germline" "" "" "0" "" "" "g.(64750584_64751324)_(64751656_64751923)del" "" "likely pathogenic" "ACMG" "0000873440" "3" "70" "11" "64518818" "64518818" "subst" "0" "00000" "PYGM_000085" "g.64518818G>A" "101" "{PMID:Sun 2018:30076350}" "" "PYGM(NM_005609.2):c.1948C>T(p.R650*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.64751346G>A" "" "likely pathogenic" "" "0000881183" "3" "90" "11" "64517912" "64517913" "del" "0" "02300" "PYGM_000059" "g.64517912_64517913del" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.64750440_64750441del" "" "pathogenic (recessive)" "ACMG" "0000890047" "0" "30" "11" "64509596" "64509596" "subst" "0.00000579408" "02326" "RASGRP2_000036" "g.64509596G>A" "" "" "" "RASGRP2(NM_153819.1):c.74-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890048" "0" "30" "11" "64519146" "64519146" "subst" "0.0000772307" "02326" "PYGM_000183" "g.64519146G>T" "" "" "" "PYGM(NM_005609.4):c.1769-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890049" "0" "30" "11" "64519958" "64519958" "subst" "0.00301907" "02326" "PYGM_000144" "g.64519958T>C" "" "" "" "PYGM(NM_001164716.1):c.1273A>G (p.I425V), PYGM(NM_005609.4):c.1537A>G (p.I513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908935" "0" "70" "11" "64525251" "64525251" "subst" "0.00208504" "00006" "PYGM_000176" "g.64525251C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64757779C>T" "" "pathogenic (recessive)" "" "0000913649" "0" "70" "11" "64520990" "64520990" "subst" "0" "02327" "PYGM_000184" "g.64520990C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913650" "0" "70" "11" "64525918" "64525918" "subst" "0.0000243833" "02329" "PYGM_000044" "g.64525918G>A" "" "" "" "PYGM(NM_005609.4):c.415C>T (p.R139W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925467" "0" "70" "11" "64526165" "64526165" "subst" "0" "02327" "PYGM_000038" "g.64526165G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929941" "0" "50" "11" "64519958" "64519958" "subst" "0.00301907" "02327" "PYGM_000144" "g.64519958T>C" "" "" "" "PYGM(NM_001164716.1):c.1273A>G (p.I425V), PYGM(NM_005609.4):c.1537A>G (p.I513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929942" "0" "50" "11" "64523009" "64523009" "del" "0" "02327" "PYGM_000185" "g.64523009del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PYGM ## Count = 254 "{{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}}" "0000060722" "00024023" "50" "612" "0" "612" "0" "c.612C>T" "r.spl?" "p.(Tyr204=)" "5" "0000061290" "00024023" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p0?" "1" "0000061291" "00024023" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p0?" "1" "0000061292" "00024023" "70" "13" "0" "14" "0" "c.13_14del" "r.(?)" "p.(Leu5Valfs*22)" "1" "0000061293" "00024023" "70" "14" "0" "14" "0" "c.14del" "r.(?)" "p.(Leu5Argfs*21)" "1" "0000061294" "00024023" "70" "21" "0" "28" "0" "c.21_28dup" "r.(?)" "p.(Lys10Thrfs*19)" "1" "0000061295" "00024023" "90" "46" "0" "46" "0" "c.46delinsTT" "r.(?)" "p.(Val16Phefs*12)" "1" "0000061296" "00024023" "70" "78" "0" "79" "0" "c.78_79del" "r.(?)" "p.(Glu27Alafs*50)" "1" "0000061297" "00024023" "70" "107" "0" "107" "0" "c.107T>G" "r.(?)" "p.(Leu36Arg)" "1" "0000061298" "00024023" "70" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "1" "0000061299" "00024023" "70" "111" "0" "133" "0" "c.111_133del" "r.(?)" "p.(His37Glnfs*33)" "1" "0000061300" "00024023" "70" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Asp51Gly)" "1" "0000061301" "00024023" "70" "158" "0" "160" "0" "c.158_160del" "r.(?)" "p.(Tyr53del)" "1" "0000061302" "00024023" "70" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Tyr53*)" "1" "0000061303" "00024023" "70" "164" "0" "168" "0" "c.164_168del" "r.(?)" "p.(Ala55Glyfs*21)" "1" "0000061304" "00024023" "70" "212" "0" "218" "0" "c.212_218dup" "r.(?)" "p.(Gln73Hisfs*7)" "1" "0000061305" "00024023" "70" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(Tyr75*)" "1" "0000061306" "00024023" "70" "247" "0" "247" "0" "c.247A>T" "r.(?)" "p.(Ile83Phe)" "2" "0000061307" "00024023" "70" "255" "0" "255" "0" "c.255C>A" "r.(?)" "p.(Tyr85*)" "2" "0000061308" "00024023" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "2" "0000061309" "00024023" "70" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Asn102Thrfs*4)" "2" "0000061310" "00024023" "70" "341" "0" "341" "0" "c.341del" "r.(?)" "p.(Tyr114Serfs*181)" "2" "0000061311" "00024023" "70" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Leu116Pro)" "3" "0000061312" "00024023" "70" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" "3" "0000061313" "00024023" "70" "402" "0" "402" "0" "c.402del" "r.(?)" "p.(Asn134Lysfs*161)" "3" "0000061314" "00024023" "70" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Arg)" "3" "0000061315" "00024023" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Gly136Asp)" "3" "0000061316" "00024023" "70" "407" "0" "407" "0" "c.407del" "r.(?)" "p.(Gly136Alafs*159)" "3" "0000061317" "00024023" "70" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139Trp)" "3" "0000061318" "00024023" "70" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Leu153Pro)" "4" "0000061319" "00024023" "70" "458" "0" "458" "0" "c.458T>G" "r.(?)" "p.(Leu153Arg)" "4" "0000061320" "00024023" "70" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Gly157Val)" "4" "0000061321" "00024023" "70" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Arg)" "4" "0000061322" "00024023" "70" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Cys)" "4" "0000061323" "00024023" "70" "509" "0" "511" "0" "c.509_511del" "r.(?)" "p.(Lys170del)" "4" "0000061324" "00024023" "70" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Gly174Asp)" "4" "0000061325" "00024023" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "5" "0000061326" "00024023" "90" "613" "0" "613" "0" "c.613G>A" "c.613g>a" "p.(Gly205Ser)" "5" "0000061327" "00024023" "70" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Gly205Asp)" "5" "0000061328" "00024023" "70" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Ser211Thrfs*84)" "5" "0000061329" "00024023" "30" "645" "0" "645" "0" "c.645G>A" "r.645g>a" "p.Lys215=" "5" "0000061330" "00024023" "70" "689" "0" "689" "0" "c.689C>G" "r.(?)" "p.(Pro230Arg)" "6" "0000061331" "00024023" "70" "715" "0" "717" "0" "c.715_717del" "r.(?)" "p.(Val239del)" "6" "0000061332" "00024023" "70" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Ser246Pro)" "6" "0000061333" "00024023" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "7" "0000061334" "00024023" "70" "875" "0" "875" "0" "c.875T>C" "r.(?)" "p.(Leu292Pro)" "8" "0000061335" "00024023" "70" "892" "0" "892" "0" "c.892dup" "r.(?)" "p.(Tyr298Leufs*24)" "8" "0000061336" "00024023" "70" "970" "0" "970" "0" "c.970C>G" "r.(?)" "p.(Arg324Gly)" "8" "0000061337" "00024023" "70" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Gln337Arg)" "9" "0000061338" "00024023" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Glu349Lys)" "9" "0000061339" "00024023" "70" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Leu354Pro)" "9" "0000061340" "00024023" "70" "1086" "0" "1086" "0" "c.1086G>A" "r.(?)" "p.(Trp362*)" "9" "0000061341" "00024023" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ala365Val)" "10" "0000061342" "00024023" "70" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Trp366*)" "10" "0000061343" "00024023" "70" "1129" "0" "1129" "0" "c.1129A>T" "r.(?)" "p.(Asn377Tyr)" "10" "0000061344" "00024023" "70" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Thr379Met)" "10" "0000061345" "00024023" "70" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Glu383Lys)" "10" "0000061346" "00024023" "70" "1151" "0" "1151" "0" "c.1151C>A" "r.(?)" "p.(Ala384Asp)" "10" "0000061347" "00024023" "70" "1155" "0" "1156" "0" "c.1155_1156del" "r.(?)" "p.(Glu386Alafs*88)" "10" "0000061348" "00024023" "70" "1162" "0" "1169" "0" "c.1162_1169delinsA" "r.(?)" "p.(Trp388Serfs*34)" "10" "0000061349" "00024023" "70" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" 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"p.(Gly486Asp)" "12" "0000061360" "00024023" "70" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Asn)" "12" "0000061361" "00024023" "70" "1463" "0" "1463" "0" "c.1463C>T" "r.(?)" "p.(Thr488Ile)" "12" "0000061362" "00024023" "70" "1466" "0" "1466" "0" "c.1466C>G" "r.(?)" "p.(Pro489Arg)" "12" "0000061363" "00024023" "70" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "12" "0000061364" "00024023" "70" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490Gln)" "12" "0000061365" "00024023" "70" "1470" "0" "1470" "0" "c.1470dup" "r.(?)" "p.(Arg491Alafs*7)" "12" "0000061366" "00024023" "70" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Cys)" "12" "0000061367" "00024023" "70" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Trp492*)" "12" "0000061368" "00024023" "70" "1480" "0" "1480" "0" "c.1480del" "r.(?)" "p.(Val494Phefs*45)" "12" "0000061369" "00024023" "90" "1531" "0" "1531" "0" "c.1531del" "r.1531del" "p.Asp511Thrfs*28" "13" "0000061370" "00024023" "70" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Ile513Val)" "13" "0000061371" "00024023" "70" "1601" "0" "1601" "0" "c.1601del" "r.(?)" "p.(Asp534Valfs*5)" "13" "0000061372" "00024023" "70" "1621" "0" "1621" "0" "c.1621G>T" "r.(?)" "p.(Glu541*)" "14" "0000061373" "00024023" "70" "1627" "0" "1627" "0" "c.1627A>T" "r.(?)" "p.(Lys543*)" "14" "0000061374" "00024023" "70" "1628" "0" "1628" "0" "c.1628A>C" "c.1628a>c" "p.(Lys543Thr)" "14" "0000061375" "00024023" "70" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570Gln)" "14" "0000061376" "00024023" "70" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "14" "0000061377" "00024023" "70" "1722" "0" "1722" "0" "c.1722T>G" "r.(?)" "p.(Tyr574*)" "14" "0000061378" "00024023" "70" "1723" "0" "1723" "0" "c.1723A>G" "r.(?)" "p.(Lys575Glu)" "14" "0000061379" "00024023" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "14" "0000061380" "00024023" "70" "1730" "0" "1730" "0" "c.1730A>G" "r.(?)" "p.(Gln577Arg)" "14" "0000061381" "00024023" "70" "1760" "0" "1760" "0" "c.1760T>C" "r.(?)" "p.(Leu587Pro)" "14" "0000061382" "00024023" "70" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590His)" "15" "0000061383" "00024023" "70" "1797" "0" "1797" "0" "c.1797del" "r.(?)" "p.(Phe599Leufs*6)" "15" "0000061384" "00024023" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "15" "0000061385" "00024023" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "15" "0000061386" "00024023" "70" "1827" "0" "1827" "0" "c.1827G>A" "r.(?)" "p.(Lys609=)" "15" "0000061387" "00024023" "70" "1942" "0" "1942" "0" "c.1942A>T" "r.(?)" "p.(Asn648Tyr)" "16" "0000061388" "00024023" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650*)" "16" "0000061389" "00024023" "70" "1948" "0" "1948" "0" "c.1948del" "r.(?)" "p.(Arg650Glufs*8)" "16" "0000061390" "00024023" "70" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Glu655Lys)" "16" "0000061391" "00024023" "70" "1970" "0" "2177" "0" "c.1970_2177del" "r.(?)" "p.(Val657Glyfs*21)" "17" "0000061392" "00024023" "70" "1979" "0" "1979" "0" "c.1979C>A" "r.(?)" "p.(Ala660Asp)" "17" "0000061393" "00024023" "70" "1985" "0" "1985" "0" "c.1985A>C" "r.(?)" "p.(Asp662Ala)" "17" "0000061394" "00024023" "70" "1996" "0" "1996" "0" "c.1996C>G" "r.(?)" "p.(Gln666Glu)" "17" "0000061395" "00024023" "70" "2009" "0" "2009" "0" "c.2009C>T" "r.(?)" "p.(Ala670Val)" "17" "0000061396" "00024023" "70" "2053" "0" "2053" "0" "c.2053A>T" "r.(?)" "p.(Asn685Tyr)" "17" "0000061397" "00024023" "70" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Gly686Arg)" "17" "0000061398" "00024023" "70" "2059" "0" "2059" "0" "c.2059G>C" "r.(?)" "p.(Ala687Pro)" "17" "0000061399" "00024023" "70" "2075" "0" "2076" "0" "c.2075_2076delinsAAA" "r.(?)" "p.(Thr692Lysfs*30)" "17" "0000061400" "00024023" "70" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Gly695Arg)" "17" "0000061401" "00024023" "70" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Ala704Val)" "17" "0000061402" "00024023" "70" "2113" "0" "2114" "0" "c.2113_2114del" "r.(?)" "p.(Gly705Argfs*16)" "17" "0000061403" "00024023" "70" "2128" "0" "2130" "0" "c.2128_2130del" "r.(?)" "p.(Phe710del)" "17" "0000061404" "00024023" "70" "2143" "0" "2143" "0" "c.2143C>T" "r.spl" "p.(Arg715Trp)" "17" "0000061405" "00024023" "70" "2199" "0" "2199" "0" "c.2199C>G" "r.(?)" "p.(Tyr733*)" "18" "0000061406" "00024023" "70" "2262" "0" "2262" "0" "c.2262del" "r.(?)" "p.(Lys754Asnfs*49)" "18" "0000061407" "00024023" "70" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Gln755*)" "18" "0000061408" "00024023" "70" "2310" "0" "2311" "0" "c.2310_2311dup" "r.(?)" "p.(Arg771Profs*33)" "18" "0000061409" "00024023" "70" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "18" "0000061410" "00024023" "70" "2337" "0" "2339" "0" "c.2337_2339del" "r.(?)" "p.(Glu779del)" "19" "0000061411" "00024023" "70" "2352" "0" "2352" "0" "c.2352C>A" "r.(?)" "p.(Cys784*)" "19" "0000061412" "00024023" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Gln785*)" "19" "0000061413" "00024023" "70" "2385" "0" "2386" "0" "c.2385_2386del" "r.(?)" "p.(Glu797Valfs*18)" "20" "0000061414" "00024023" "70" "2392" "0" "2392" "0" "c.2392T>C" "r.(?)" "p.(Trp798Arg)" "20" "0000061415" "00024023" "70" "2422" "0" "2422" "0" "c.2422A>C" "r.(?)" "p.(Thr808Pro)" "20" "0000061416" "00024023" "70" "2425" "0" "2425" "0" "c.2425dup" "r.(?)" "p.(Ser809Phefs*7)" "20" "0000061417" "00024023" "70" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(Gly810=)" "20" "0000061418" "00024023" "70" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Ser814Asn)" "20" "0000061419" "00024023" "70" "2444" "0" "2444" "0" "c.2444A>C" "r.(?)" "p.(Asp815Ala)" "20" "0000061420" "00024023" "70" "2465" "0" "2465" "0" "c.2465C>A" "r.(?)" "p.(Ala822Asp)" "20" "0000061421" "00024023" "70" "2477" "0" "2477" "0" "c.2477G>C" "r.(?)" "p.(Trp826Ser)" "20" "0000061422" "00024023" "70" "425" "-26" "425" "-26" "c.425-26A>G" "r.spl" "p.(=)" "3i" "0000061423" "00024023" "90" "528" "-8" "528" "-8" "c.528-8G>A" "r.527_528ins528-6_528-1" "p.Gln176_Met177insValGln" "4i" "0000061424" "00024023" "70" "856" "-601" "856" "-601" "c.856-601G>A" "r.spl" "p.?" "5i" "0000061425" "00024023" "70" "772" "-2" "772" "-2" "c.772-2A>T" "r.spl" "p.?" "6i" "0000061426" "00024023" "70" "855" "1" "855" "1" "c.855+1G>C" "r.spl" "p.?" "7i" "0000061427" "00024023" "70" "855" "5" "855" "5" "c.855+5G>A" "r.spl?" "p.?" "7i" "0000061428" "00024023" "70" "999" "20" "999" "20" "c.999+20C>T" "r.spl" "p.(=)" "8i" "0000061429" "00024023" "70" "1092" "1" "1092" "1" "c.1092+1G>A" "r.spl" "p.?" "9i" "0000061430" "00024023" "70" "1092" "-1" "1092" "-1" "c.1092-1G>T" "r.spl" "p.?" "9i" "0000061431" "00024023" "70" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" "10i" "0000061432" "00024023" "70" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000061433" "00024023" "90" "1969" "214" "2177" "369" "c.1969+214_2177+369del" "r.1970_2177del" "p.0" "16i_17i" "0000061434" "00024023" "70" "2312" "3" "2312" "3" "c.2312+3G>C" "r.(?)" "p.?" "18i" "0000061435" "00024023" "70" "2379" "-1" "2379" "-1" "c.2379-1G>A" "r.spl" "p.?" "19i" "0000061436" "00024023" "70" "2392" "0" "2392" "0" "c.2392T>M" "r.(?)" "p.(Trp798Arg)" "20" "0000061437" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.148c>u" "p.Arg50*" "1" "0000061438" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000061439" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.148c>u" "p.Arg50*" "1" "0000061440" "00024023" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "5" "0000061441" "00024023" "70" "1628" "0" "1628" "0" "c.1628A>C" "r.(?)" "p.(Lys543Thr)" "14" "0000061442" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.0" "p.0" "1" "0000061443" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000061444" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.0" "p.0" "1" "0000061445" "00024023" "70" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "5" "0000061446" "00024023" "90" "613" "0" "613" "0" "c.613G>A" "r.613g>a" "p.Gly205Ser" "5" "0000061447" "00024023" "30" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Lys215=)" "5" "0000061448" "00024023" "70" "1628" "0" "1628" "0" "c.1628A>C" "r.(?)" "p.(Lys543Thr)" "14" "0000061449" "00024023" "10" "1327" "0" "1327" "0" "c.1327G>T" "r.1327g>u" "p.Ala443Ser" "13" "0000061450" "00024023" "90" "2128" "0" "2130" "0" "c.2128_2130del" "r.2128_2130del" "p.Phe710del" "17" "0000061451" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000086634" "00024023" "70" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Leu132Trpfs*163)" "3" "0000086635" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000086636" "00024023" "70" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "2" "0000086637" "00024023" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "5" "0000086638" "00024023" "70" "104" "0" "104" "0" "c.104A>G" "r.(?)" "p.(His35Arg)" "1" "0000086639" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000116901" "00024023" "97" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "10" "0000128882" "00024023" "70" "281" "0" "281" "0" "c.281G>C" "NM_005609.2:c.281G>C" "p.Arg94Pro" "2" "0000134793" "00024023" "70" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "14" "0000134794" "00024023" "99" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000301327" "00024023" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000322291" "00024023" "50" "1144" "0" "1144" "0" "c.1144C>G" "r.(?)" "p.(Pro382Ala)" "" "0000340871" "00024023" "50" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Lys215=)" "" "0000340907" "00024023" "50" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Pro282=)" "" "0000342492" "00024023" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "" "0000343022" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "" "0000343688" "00024023" "50" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(Asn283Ser)" "" "0000348344" "00024023" "50" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Pro282Leu)" "" "0000351316" "00024023" "10" "1827" "7" "1827" "7" "c.1827+7A>G" "r.(=)" "p.(=)" "" "0000544910" "00024023" "70" "2177" "1" "2177" "1" "c.2177+1G>A" "r.spl?" "p.?" "" "0000544911" "00024023" "10" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Leu523=)" "" "0000544912" "00024023" "70" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Ser450Leu)" "" "0000544913" "00024023" "50" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Thr376Ser)" "" "0000544914" "00024023" "30" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(Asn283Ser)" "" "0000544915" "00024023" "10" "425" "-22" "425" "-22" "c.425-22C>T" "r.(=)" "p.(=)" "" "0000597032" "00024023" "90" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Thr677Ile)" "" "0000597745" "00024023" "90" "1915" "0" "1915" "0" "c.1915G>C" "r.(?)" "p.(Asp639His)" "" "0000597746" "00024023" "90" "123" "0" "124" "0" "c.123_124insCC" "r.(?)" "p.(Lys42Profs*48)" "" "0000597747" "00024023" "90" "123" "0" "124" "0" "c.123_124insCC" "r.(?)" "p.(Lys42Profs*48)" "" "0000613532" "00024023" "30" "6338" "0" "6338" "0" "c.*3809A>G" "r.(=)" "p.(=)" "" "0000613533" "00024023" "70" "1620" "1" "1620" "1" "c.1620+1G>A" "r.spl?" "p.?" "" "0000613534" "00024023" "50" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "" "0000629676" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "1" "0000629677" "00024023" "50" "695" "0" "695" "0" "c.695C>A" "r.(?)" "p.(Pro232His)" "" "0000648329" "00024023" "30" "2009" "0" "2009" "0" "c.2009C>T" "r.(?)" "p.(Ala670Val)" "" "0000648330" "00024023" "50" "645" "0" "645" "0" "c.645G>A" "r.(=)" "p.(=)" "" "0000648331" "00024023" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "" "0000653529" "00024023" "50" "2078" "0" "2078" "0" "c.2078T>C" "r.(?)" "p.(Met693Thr)" "" "0000656836" "00024023" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "" "0000656837" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "" "0000668259" "00024023" "90" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Arg816His)" "" "0000679255" "00024023" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Ile308=)" "" "0000679256" "00024023" "50" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Gln220=)" "" "0000691116" "00024023" "30" "7705" "0" "7705" "0" "c.*5176G>A" "r.(=)" "p.(=)" "" "0000691117" "00024023" "30" "1957" "0" "1957" "0" "c.1957C>G" "r.(?)" "p.(Leu653Val)" "" "0000691118" "00024023" "50" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Gln220=)" "" "0000691119" "00024023" "30" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Lys215=)" "" "0000691120" "00024023" "30" "-5505" "0" "-5505" "0" "c.-5505G>A" "r.(?)" "p.(=)" "" "0000697667" "00024023" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "" "0000697668" "00024023" "70" "107" "0" "107" "0" "c.107T>G" "r.(?)" "p.(Leu36Arg)" "" "0000697669" "00024023" "70" "78" "0" "79" "0" "c.78_79del" "r.(?)" "p.(Glu27Alafs*50)" "" "0000723558" "00024023" "30" "7724" "0" "7724" "0" "c.*5195C>A" "r.(=)" "p.(=)" "" "0000723559" "00024023" "70" "2262" "0" "2262" "0" "c.2262del" "r.(?)" "p.(Lys754Asnfs*49)" "" "0000723560" "00024023" "90" "2262" "0" "2262" "0" "c.2262del" "r.(?)" "p.(Lys754Asnfs*49)" "" "0000723561" "00024023" "30" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Ile513Val)" "" "0000723562" "00024023" "70" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" "p.(Leu397Pro)" "" "0000723563" "00024023" "30" "999" "10" "999" "10" "c.999+10G>A" "r.(=)" "p.(=)" "" "0000723564" "00024023" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Phe327=)" "" "0000723565" "00024023" "50" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Phe287=)" "" "0000723566" "00024023" "70" "856" "-2" "856" "-2" "c.856-2A>C" "r.spl?" "p.?" "" "0000723567" "00024023" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Arg243=)" "" "0000723568" "00024023" "50" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Gln220=)" "" "0000723569" "00024023" "70" "507" "0" "507" "0" "c.507G>T" "r.(?)" "p.(Gln169His)" "" "0000723570" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "" "0000723571" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "" "0000723572" "00024023" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000763387" "00024023" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "" "0000763549" "00024023" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "" "0000763597" "00024023" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "" "0000786998" "00024023" "90" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Trp366Ter)" "10" "0000798380" "00024023" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "12" "0000805254" "00024023" "50" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "" "0000853075" "00024023" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Asn794=)" "" "0000862622" "00024023" "30" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "" "0000862623" "00024023" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ala365Val)" "" "0000862624" "00024023" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Glu349Lys)" "" "0000862625" "00024023" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Arg243=)" "" "0000872028" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "1" "0000872055" "00024023" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Ter)" "1" "0000872066" "00024023" "70" "1769" "-1" "1969" "1" "c.(1768+1_1769-1)_(1969+1_1970-1)del" "r.?" "p.(Arg590_Val657del)" "14i_16i" "0000873440" "00024023" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650*)" "" "0000881183" "00024023" "90" "2113" "0" "2114" "0" "c.2113_2114del" "r.(?)" "p.(Gly705ArgfsTer16)" "" "0000890047" "00024023" "30" "7064" "0" "7064" "0" "c.*4535C>T" "r.(=)" "p.(=)" "" "0000890048" "00024023" "30" "1769" "-19" "1769" "-19" "c.1769-19C>A" "r.(=)" "p.(=)" "" "0000890049" "00024023" "30" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Ile513Val)" "" "0000908935" "00024023" "70" "660" "0" "660" "0" "c.660G>A" "r.[529_660del,425_660del]" "p.[Met177_Gln220del,Ala142Glyfs*32]" "" "0000913649" "00024023" "70" "1403" "1" "1403" "1" "c.1403+1G>A" "r.spl?" "p.?" "" "0000913650" "00024023" "70" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139Trp)" "" "0000925467" "00024023" "70" "255" "0" "255" "0" "c.255C>A" "r.(?)" "p.(Tyr85*)" "" "0000929941" "00024023" "50" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Ile513Val)" "" "0000929942" "00024023" "50" "682" "0" "682" "0" "c.682del" "r.(?)" "p.(Asp228Ilefs*67)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 196 "{{screeningid}}" "{{variantid}}" "0000033876" "0000060722" "0000034286" "0000061290" "0000034287" "0000061291" "0000034288" "0000061292" "0000034289" "0000061293" "0000034290" "0000061294" "0000034291" "0000061295" "0000034291" "0000061451" "0000034292" "0000061296" "0000034293" "0000061297" "0000034294" "0000061298" "0000034295" "0000061299" "0000034296" "0000061300" "0000034297" "0000061301" "0000034298" "0000061302" "0000034299" "0000061303" "0000034300" "0000061304" "0000034301" "0000061305" "0000034302" "0000061306" "0000034303" "0000061307" "0000034304" "0000061308" "0000034305" "0000061309" "0000034306" "0000061310" "0000034307" "0000061311" "0000034308" "0000061312" "0000034309" "0000061313" "0000034310" "0000061314" "0000034311" "0000061315" "0000034312" "0000061316" "0000034313" "0000061317" "0000034314" "0000061318" "0000034315" "0000061319" "0000034316" "0000061320" 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