### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL6A1) # 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}}" "COL6A1" "collagen, type VI, alpha 1" "21" "q22.3" "unknown" "LRG_475" "UD_132118413447" "" "http://www.LOVD.nl/COL6A1" "" "1" "2211" "1291" "120220" "1" "1" "1" "1" "This database is one of the gene variant databases from the:The database was initiated with the help of Anne Lampe, based on the review article Lampe AK, Bushby KMD (2005). Collagen VI related muscle disorders. J. Med. Genet. 42: 673-685." "" "g" "https://databases.lovd.nl/shared/refseq/COL6A1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2005-02-28 00:00:00" "00006" "2019-03-03 13:51:31" "00006" "2025-10-10 16:21:07" ## 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}}" "00005471" "COL6A1" "collagen, type VI, alpha 1" "001" "NM_001848.2" "" "NP_001839.2" "" "" "" "-102" "4123" "3087" "47401663" "47424963" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "01448" "BTHLM1A" "myopathy, Bethlem, type 1A" "AD;AR" "158810" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-09-09 12:19:34" "01945" "UCMD" "dystrophy, muscular, congenital, Ullrich" "AD;AR;Di" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-09-09 12:22:46" "04286" "LGMD1" "dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD-1)" "" "" "" "" "" "00006" "2015-06-19 22:12:47" "00006" "2021-12-11 13:56:28" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "05100" "UCMD" "dystrophy, muscular, congenital, Ullrich (UCMD)" "" "" "" "" "" "00006" "2015-11-08 10:59:55" "00006" "2017-07-28 15:01:18" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05358" "BTHLM" "myopathy, Bethlem (BTHLM)" "" "" "" "" "" "00006" "2017-12-28 09:26:43" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07177" "UCMD1A" "dystrophy, Uhlrich, muscular, congenital, type 1A" "AD;AR;Di" "254090" "" "" "" "00006" "2025-09-09 12:24:48" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "COL6A1" "01448" "COL6A1" "01945" "COL6A1" "05358" "COL6A1" "07177" ## Individuals ## Do not remove or alter this header ## ## Count = 828 "{{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}}" "00035383" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035384" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035385" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035386" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035387" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035388" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035389" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035390" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035391" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035392" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035393" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035394" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035395" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035396" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035397" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035398" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035399" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035400" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035401" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035402" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035403" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035404" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035405" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035406" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035407" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035408" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035409" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035410" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035411" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035412" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035413" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035414" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035415" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035416" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035417" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00054696" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "" "M" "" "Australia" ">15y" "0" "" "" "" "" "00054697" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "" "F" "" "Australia" ">14y" "0" "" "" "" "Pat62" "00054701" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "Australia" ">12y" "0" "" "" "" "Pat70" "00054704" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "Australia" ">12y" "0" "" "" "" "Pat94" "00054705" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "" "M" "" "Australia" ">9y" "0" "" "" "" "Pat100" "00054707" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "" "F" "" "Australia" ">11y" "0" "" "" "" "Pat105" "00054708" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "" "F" "" "Australia" ">5y" "0" "" "" "" "Pat111" "00054709" "" "" "" "1" "" "01458" "{PMID:O\'Grady 2016:27159402}" "" "F" "" "Australia" ">9y" "0" "" "" "" "Pat118" "00108711" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat12" "00108717" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat18" "00108723" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat23" "00108726" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat26" "00108732" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat31" "00108733" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat32" "00108737" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat36" "00108739" "" "" "" "1" "" "01955" "MYO-SEQ project, UK" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat5" "00108740" "" "" "" "3" "" "01955" "MYO-SEQ project, UK" "2-generation family, affected father and 2 sons" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MYO-SEQ Pat6" "00108745" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108746" "" "" "" "12" "" "00006" "{PMID:Scacheri 2002:11865138}" "4 generation family, 12 affecteds" "" "" "United States" "" "0" "" "" "white" "?" "00108747" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108748" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P13" "00108749" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108750" "" "" "" "1" "" "00006" "{PMID:LamandÈ 1999:10419498}" "" "M" "" "" "" "0" "" "" "" "?" "00108751" "" "" "" "1" "" "00006" "{PMID:Pan 2003:12840783}" "" "M" "" "" "" "0" "" "" "" "?" "00108752" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "P10" "00108753" "" "" "" "3" "" "00006" "{PMID:Pepe 1999:10329467}" "3 generation family, affected mother and grandfather" "" "" "" "" "0" "" "" "" "?" "00108754" "" "" "" "1" "" "00449" "{PMID:Giusti 2005:16130093}" "" "" "" "Italy" "" "0" "" "" "" "P3" "00108755" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108756" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "heterozygous parents" "" "" "" "" "0" "" "" "" "?" "00108757" "" "" "" "1" "" "00449" "{PMID:Giusti 2005:16130093}" "" "" "" "Turkey" "" "0" "" "" "" "P2" "00108758" "" "" "" "3" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108759" "" "" "" "1" "" "00006" "{PMID:Scacheri 2002:11865138}" "large 4 generation family" "" "" "United States" "" "0" "" "" "white" "?" "00108760" "" "" "" "1" "" "00006" "{PMID:Vanegas 2002:11932968}" "4 generation family" "" "" "Italy" "" "0" "" "" "" "?" "00108761" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P1" "00108762" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "3 generation family" "" "" "" "" "0" "" "" "" "P6" "00108763" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P5" "00108764" "" "" "" "1" "" "00449" "{PMID:Pepe 2005:16278855}" "" "F" "no" "France" "" "0" "" "" "" "16278855-PatA" "00108765" "" "" "" "1" "" "00449" "{PMID:Pepe 2005:16278855}" "" "" "" "" "" "0" "" "" "" "B" "00108766" "" "" "" "1" "" "00006" "{PMID:Pan 2003:12840783}" "" "M" "" "" ">12y" "0" "" "" "" "?" "00108767" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P16" "00108768" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "first degree relatives, no confirmatory data" "" "" "" "" "0" "" "" "" "Pat28, Pat29" "00108769" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P12" "00108770" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "Pat45" "00108771" "" "" "" "2" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108772" "" "" "" "1" "" "00449" "{PMID:Giusti 2005:16130093}" "" "" "" "Italy" "" "0" "" "" "" "P4" "00108773" "" "" "" "1" "" "00449" "{PMID:Giusti 2005:16130093}" "" "" "yes" "Turkey" "" "0" "" "" "" "P1" "00108774" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "Pat43" "00108775" "" "" "" "1" "" "00449" "{PMID:Giusti 2005:16130093}" "" "" "" "Belgium" "" "0" "" "" "" "P5" "00108776" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P14" "00108777" "" "" "" "1" "" "00006" "{PMID:Jobsis 1996:8782832}" "3 generation family" "" "" "" "" "0" "" "" "" "?" "00108778" "" "" "" "9" "" "00006" "{PMID:LamandÈ 1998:9580662}" "large family, 9 affecteds" "" "" "" "" "0" "" "" "" "?" "00108779" "" "" "" "1" "" "00006" "{PMID:Baker 2005:15563506}" "" "" "" "" "" "0" "" "" "" "?" "00108785" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108795" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "Pat47" "00108806" "" "" "" "1" "" "00006" "{PMID:Lampe 2005:15689448}" "" "" "" "" "" "0" "" "" "" "?" "00108823" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "Australia" "" "0" "" "" "" "?" "00108824" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "United States" "" "0" "" "" "" "?" "00108825" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "United States" "" "0" "" "" "" "?" "00108826" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "F" "" "Australia" "" "0" "" "" "" "?" "00108827" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "New Zealand" "" "0" "" "" "" "?" "00108828" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "Australia" "" "0" "" "" "" "?" "00108829" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00108830" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "Australia" "" "0" "" "" "" "?" "00108831" "" "" "" "1" "" "00006" "{PMID:Kawahara:17785674}" "" "" "" "" "" "0" "" "" "" "?" "00108832" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "Belgium" "" "0" "" "" "" "?" "00108833" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "?" "00108834" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "?" "00108835" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "P7" "00108836" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "P8" "00108837" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "unrelated patients" "" "" "" "" "0" "" "" "" "P9" "00108838" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "M" "" "United States" "" "0" "" "" "" "?" "00108839" "" "" "" "1" "" "00006" "{PMID:Baker 2007:17886299}" "" "F" "" "Belgium" "" "0" "" "" "" "?" "00108844" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P2" "00108845" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P3" "00108846" "" "" "" "1" "" "00449" "{PMID:Lucioli 2005:15955946}" "" "" "" "" "" "0" "" "" "" "P4" "00108847" "" "" "" "2" "" "00006" "{PMID:Lampe 2005:15689448}" "2 affecteds" "" "" "" "" "0" "" "" "" "?" "00108849" "" "" "" "1" "" "00464" "" "" "M" "" "(United States)" "" "0" "" "" "" "?" "00108853" "" "" "" "1" "" "00464" "" "" "F" "" "(United States)" "" "0" "" "" "" "?" "00108854" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108855" "" "" "" "1" "" "00464" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00108858" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108860" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "Asian" "?" "00108861" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "Asian Indian" "?" "00108865" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "?" "00108866" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "Hispanic" "?" "00108867" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "?" "00108870" "" "" "" "1" "" "00464" "" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "?" "00108871" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "?" "00108872" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108873" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108874" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00108878" "" "" "" "1" "" "00006" "CA Valencia ASHG 2010 A1982" "" "?" "" "(United States)" "" "0" "" "" "" "?" "00108879" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00108881" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108884" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "?" "00108885" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00108888" "" "" "" "1" "" "00464" "" "" "F" "" "Israel" "" "0" "" "" "" "?" "00108889" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "Hispanic" "?" "00108893" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108898" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108899" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "?" "00108903" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108906" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" "?" "00108907" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00108909" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108910" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108911" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108912" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108913" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108914" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108915" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108916" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108917" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108918" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108919" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108920" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108921" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108922" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108923" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108924" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108925" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108926" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108927" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108928" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108929" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108930" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108931" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108932" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108933" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108934" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108935" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108936" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108937" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108938" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108939" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108940" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108941" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108942" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108943" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108944" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108945" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108946" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108947" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108948" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108949" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108950" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108951" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108952" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108953" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108954" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108955" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108956" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108957" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108958" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108959" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108960" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108961" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108962" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108963" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108964" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108965" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108966" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108967" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108968" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108969" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108970" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108971" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108972" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108973" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108974" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108975" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108976" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108977" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108978" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108979" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108980" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108981" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108982" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108983" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108984" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108985" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108986" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108987" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108988" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108989" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108990" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108991" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108992" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108993" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108994" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108995" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108996" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108997" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108998" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00108999" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109000" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109001" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109002" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109003" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109004" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109005" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109006" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109007" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109008" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109009" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109010" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109011" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109012" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" "?" "00109192" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "French Canadian" "?" "00109194" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00109195" "" "" "" "1" "" "00464" "" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "?" "00109196" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_1" "00109197" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_2" "00109198" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_3" "00109199" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_4" "00109200" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_5" "00109201" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_6" "00109202" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_7" "00109203" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_8" "00109204" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_9" "00109205" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "twin sibling is Gly_11" "M" "" "(United States)" "" "0" "" "" "" "Gly_10" "00109206" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "twin sibling is Gly_10" "M" "" "(United States)" "" "0" "" "" "" "Gly_11" "00109207" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" ">12y" "0" "" "" "" "Gly_12" "00109208" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_13" "00109209" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" ">13y" "0" "" "" "" "Gly_14" "00109210" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_15" "00109211" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_16" "00109212" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_17" "00109213" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_18" "00109214" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_19" "00109215" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_20" "00109216" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "sister is Gly_22" "M" "" "(United States)" "" "0" "" "" "" "Gly_21" "00109217" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "brother is Gly_21" "F" "" "(United States)" "" "0" "" "" "" "Gly_22" "00109218" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_23" "00109219" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_24" "00109220" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" ">18y" "0" "" "" "" "Gly_25" "00109221" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_26" "00109222" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_27" "00109223" "" "" "" "2" "" "00537" "{PMID:Butterfield:24038877}" "2-generation family, 1 affected" "M" "" "(United States)" "" "0" "" "" "" "Gly_28" "00109224" "" "" "00109223" "1" "" "00537" "{PMID:Butterfield:24038877}" "father of Gly_28" "M" "" "(United States)" "" "0" "" "" "" "Gly_29" "00109225" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_30" "00109226" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_31" "00109227" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_32" "00109228" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_33" "00109229" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_34" "00109230" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_35" "00109231" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "mother is Gly_37" "F" "" "(United States)" "" "0" "" "" "" "Gly_36" "00109232" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "daughter is Gly_36" "F" "" "(United States)" "" "0" "" "" "" "Gly_37" "00109233" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_38" "00109234" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_39" "00109235" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_40" "00109236" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_41" "00109258" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_63" "00109259" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_64" "00109260" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_65" "00109261" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_66" "00109266" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_71" "00109267" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" ">6y" "0" "" "" "" "Gly_72" "00109268" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_73" "00109269" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_74" "00109270" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "M" "" "(United States)" "" "0" "" "" "" "Gly_75" "00109271" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" ">19y" "0" "" "" "" "Gly_76" "00109273" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_78" "00109274" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "F" "" "(United States)" "" "0" "" "" "" "Gly_79" "00109277" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_82" "00109278" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_83" "00109279" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_84" "00109280" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_85" "00109281" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_86" "00109282" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_87" "00109283" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_88" "00109284" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_89" "00109285" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_90" "00109286" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_91" "00109287" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "" "" "" "(United States)" "" "0" "" "" "" "Gly_92" "00109295" "" "" "" "1" "" "00537" "{PMID:Butterfield:24038877}" "unaffacted mother patient Gly_7" "F" "" "(United States)" "" "0" "" "" "" "Gly_7m" "00109296" "" "" "" "2" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00109297" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00109299" "" "" "" "1" "" "00006" "{PMID:Foley 2011:21280092}, Medne ASHG 2010 A1669" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United States" "" "0" "" "" "" "?" "00109300" "" "" "" "2" "" "00006" "{PMID:Foley 2011:21280092}" "2-generation family, individual and unafected carrier father" "M" "no" "United States" "" "0" "" "" "" "?" "00109301" "" "" "" "1" "" "00472" "{PMID:Angelin 2007:17215366}" "" "" "" "Italy" "" "0" "" "" "" "?" "00109306" "" "" "" "2" "" "00472" "{PMID:Martoni 2013:23738969}" "2 affected brothers" "" "" "Brazil" "" "0" "" "" "" "?" "00109307" "" "" "" "1" "" "00472" "{PMID:Martoni 2009:19309692}" "" "" "" "Italy" "" "0" "" "" "" "?" "00109313" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109314" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109321" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109322" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109323" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109324" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109325" "" "" "" "1" "" "00472" "" "" "" "" "Canada" "" "0" "" "" "" "?" "00109326" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109327" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109328" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109329" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109330" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109331" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109332" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109333" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109334" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109335" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109336" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109337" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109338" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109339" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109340" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109341" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109342" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109343" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109344" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109345" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109346" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109347" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109348" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109349" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109350" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109351" "" "" "" "1" "" "00472" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00109352" "" "" "" "1" "" "00472" "" "" "" "" "Pakistan" "" "0" "" "" "" "?" "00109353" "" "" "" "1" "" "00472" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00109416" "" "" "" "1" "" "02188" "Butterfield, submitted" "" "M" "" "" "" "0" "" "" "" "F2P" "00109417" "" "" "" "1" "" "02188" "" "" "M" "" "" "" "0" "" "" "" "F3P" "00109419" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00109420" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00146420" "" "" "" "1" "" "02352" "" "" "M" "no" "United States" "46y" "0" "" "" "Italian;American-Indian" "" "00207967" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00209032" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat55" "00219496" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219517" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219537" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219550" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219556" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219577" "" "" "" "1" "" "00430" "{PMID:Nallamilli 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"00222393" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222418" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222424" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222439" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222441" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222454" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222476" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222477" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222479" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222504" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222509" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222510" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222512" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222528" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222560" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222566" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222597" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222604" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222614" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222623" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222632" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222640" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222673" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222687" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222713" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222729" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222738" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222739" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00225601" "" "" "" "2" "" "00006" "{PMID:Saha 2018:30345904}, {DOI:Saha 2018:10.1152/physiolgenomics.00036.2018}" "2-generation family, affected, brothers unaffected heterozygous carrier parents/relatives" "M" "yes" "(Saudi Arabia);(Sudan)" "" "0" "" "" "" "30345904-Fam1306" "00230584" "" "" "" "2" "" "03259" "" "2-generation family, 2 affecteds (2F), unaffected carrier parents and elder sibling" "F" "yes" "Sri Lanka" "11y" "0" "yes" "none" "Asian" "Proband_01" "00265785" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "F" "" "Mexico" "" "0" "" "" "Hispanic" "N31/US1" "00265786" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "M" "" "United States" "" "0" "" "" "white;Jewish-Ashkenazi" "N32/US2" "00265787" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "US3" "00265788" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United States" "" "0" "" "" "white" "US4" "00265789" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United States" "" "0" "" "" "white" "US5" "00265790" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United States" "" "0" "" "" "white" "US6" "00265791" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United States" "" "0" "" "" "white" "US7" "00265792" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "US8" "00265793" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "United States" "" "0" "" "" "American African" "US9" "00265794" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Guatemala;Costa Rica" "" "0" "" "" "Hispanic" "US10" "00265795" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "US11" "00265796" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "India" "" "0" "" "" "Asian" "CA1" "00265797" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Canada" "" "0" "" "" "Bengali; Asian" "CA2" "00265798" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Canada" "" "0" "" "" "white" "CA3" "00265799" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Chile" "" "0" "" "" "Hispanic" "CH1" "00265800" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Germany" "" "0" "" "" "white" "G1" "00265801" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Ireland" "" "0" "" "" "white" "IR1" "00265802" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Latvia" "" "0" "" "" "white" "L1" "00265803" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Romania" "" "0" "" "" "white" "R1" "00265804" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "N29/UK1" "00265805" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "M" "" "Ireland" "" "0" "" "" "white" "N30/UK2" "00265806" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "UK3" "00265807" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Greece" "" "0" "" "" "white" "UK4" "00265808" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Spain" "" "0" "" "" "white" "UK5" "00265809" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "France" "" "0" "" "" "white" "F1" "00265810" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "France;Algeria" "" "0" "" "" "white; African" "F2" "00265811" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Italy" "" "0" "" "" "white" "IT1" "00265812" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Italy" "" "0" "" "" "white" "IT2" "00265813" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Italy" "" "0" "" "" "white" "IT3" "00265814" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Italy" "" "0" "" "" "white" "IT4" "00265815" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Italy" "" "0" "" "" "white" "IT5" "00265816" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Australia" "" "0" "" "" "white" "A1" "00265817" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "M" "" "Spain" "" "0" "" "" "white" "S1" "00265818" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "Spain" "" "0" "" "" "white" "S2" "00265819" "" "" "" "1" "" "00006" "{PMID:Bolduc 2019:30895940}" "" "F" "" "" "" "0" "" "" "white;Middle Eastern" "IS1" "00274297" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "Europe, white;African American" "Fam1092" "00274316" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "M" "" "United States" "" "0" "" "" "" "Fam1366" "00274366" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat18" "00274367" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat96" "00274368" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat109" "00274369" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat113" "00274370" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "F" "" "Korea" "" "0" "" "" "" "Pat121" "00274371" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat150" "00274372" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat163" "00274373" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "F" "" "Korea" "" "0" "" "" "" "Pat175" "00274433" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "F" "" "Korea" "" "0" "" "" "" "Pat5" "00288197" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat7" "00288228" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat38" "00288981" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat35" "00289009" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat64" "00293030" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293031" "" "" "" "59" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293032" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295189" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296869" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00301391" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00304881" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305767" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P42" "00305786" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P66" "00305830" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P126" "00307185" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D14-0923" "00307218" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D17-0991" "00307246" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D19-1254" "00307247" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D19-1391" "00314144" "" "" "" "3" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314145" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314146" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314147" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314148" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314149" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314150" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314151" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314152" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314153" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314154" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00361985" "" "" "" "1" "" "04047" "{PMID:Saat 2021:33963534}" "" "M" "no" "Turkey" "" "0" "" "" "" "Pat8" "00363163" "" "" "" "1" "" "00454" "Luce 2021, submitted" "" "M" "" "Argentina" "" "0" "" "" "" "#749" "00374275" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3912" "00374276" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-528" "00374277" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2061" "00374278" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4466" "00374279" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2761" "00374699" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2298" "00374700" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4133" "00388667" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat31" "00388668" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat32" "00388699" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat30" "00391934" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0094/B-102" "00391948" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "" "India" "" "0" "yes" "" "" "MDCRC/0308/B-374" "00391959" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/0688/B-816" "00391967" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0948/DBI-816" "00391968" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0950/DBI-818" "00391977" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1173/DBI-989" "00391982" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1256/DBI-1048" "00397772" "" "" "" "1" "" "00006" "{PMID:Patel 2021:34925456}" "patient" "" "" "India" "" "0" "" "" "India-W" "P97" "00397780" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U20" "00397781" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U15" "00397782" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U23" "00397783" "" "" "" "1" "" "00006" "{PMID:Zhang 2014:24801232}, {PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U2" "00397784" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U30" "00397785" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U16" "00397786" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U27" "00397787" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U26" "00397788" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U14" "00397789" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U35" "00397799" "" "" "" "1" "" "00006" "{PMID:Zhang 2014:24801232}, {PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U4" "00397800" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U39" "00397801" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U38" "00397820" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B1" "00397821" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B16" "00397822" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B7" "00397823" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B14" "00397824" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B12" "00397825" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B10" "00397826" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B5" "00397827" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B18" "00397828" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B11" "00397829" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "2-generation family, 1 affected, unaffected parents" "" "" "China" "" "0" "" "" "" "B6" "00397830" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B17" "00397831" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B8" "00397832" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B13" "00397833" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B15" "00397834" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B4" "00398988" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P6" "00399013" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P39" "00399016" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P44" "00399033" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P82" "00399064" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P135" "00399114" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P203" "00413125" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P68/Myo146" "00419479" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9020" "00419480" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9167" "00419599" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20179" "00428313" "" "" "" "1" "" "04448" "" "" "" "" "" "" "" "" "" "" "" "00428317" "" "" "" "1" "" "04448" "" "" "F" "yes" "China" "" "" "" "" "" "" "00428471" "" "" "" "2" "" "04448" "" "" "M" "yes" "China" "" "" "" "" "" "" "00428472" "" "" "" "1" "" "04448" "" "" "F" "yes" "China" "" "" "" "" "" "" "00430391" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "F" "" "Turkey" "" "0" "" "" "" "D2" "00430419" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "M" "" "Turkey" "" "0" "" "" "" "D30" "00430449" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "M" "" "Turkey" "" "0" "" "" "" "D60" "00430461" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "F" "" "Turkey" "" "0" "" "" "" "U5" "00430470" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U14" "00433236" "" "" "" "1" "" "03361" "Morel et al. submitted" "" "" "" "France" "" "0" "" "" "" "" "00438469" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "D2" "00438497" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "D30" "00438527" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "D60" "00438539" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "U5" "00438548" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U14" "00442613" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, no family history" "F" "" "Spain" "" "0" "" "" "" "Fam1PatA" "00442614" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, brother with Steinert disease" "M" "" "Spain" "" "0" "" "" "" "Fam2PatA" "00442615" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "Fam3PatA" "00442616" "" "" "" "3" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "family, 3 affected sibs" "M" "" "Spain" "" "0" "" "" "" "Fam4PatA" "00442617" "" "" "00442616" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "brother" "M" "" "Spain" "" "0" "" "" "" "Fam4PatB" "00442618" "" "" "00442616" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "mother" "F" "" "Spain" "" "0" "" "" "" "Fam4PatC" "00442619" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "Fam5PatA" "00442620" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "Fam6PatA" "00442628" "" "" "" "1" "" "00006" "{PMID:Panades de Oliveira 2019:30706156}" "patient, father probable Bethlem disease (deceased, contractures)" "F" "" "Spain" "" "0" "" "" "" "Fam11PatA" "00442644" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00442645" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat17" "00442706" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat78" "00442769" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat141" "00442779" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat151" "00444985" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "F" "" "France" "" "0" "" "" "" "F1" "00444986" "" "" "" "2" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "F2.1/F2.2" "00445015" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "" "France" "" "0" "" "" "" "F13" "00445016" "" "" "" "4" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "no" "France" "" "0" "" "" "" "F14" "00445017" "" "" "" "2" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "family, 2 affected" "F" "" "France" "" "0" "" "" "" "F15.1/15.2" "00445018" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "F" "" "France" "" "0" "" "" "" "F16" "00445019" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "" "France" "" "0" "" "" "" "F17" "00445020" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "" "France" "" "0" "" "" "" "F18" "00445021" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "" "France" "" "0" "" "" "" "F19" "00445023" "" "" "" "1" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "" "France" "" "0" "" "" "" "F23" "00445024" "" "" "" "2" "" "04618" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "M" "no" "France" "" "0" "" "" "" "F24" "00453058" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat14" "00453455" "" "" "" "1" "" "01164" "" "2-generation family, 2 affected (daughter/father)" "F" "no" "Germany" "" "0" "" "" "" "124422" "00454551" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "F" "" "China" "" "0" "" "not treated" "" "Pat296" "00460938" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466066" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00466514" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "" "" "0" "" "" "" "Pat12" "00466515" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat18" "00466516" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat19" "00466517" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat23" "00466518" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat25" "00466519" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat28" "00466520" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "" "" "0" "" "" "" "Pat30" "00466521" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat35" "00466522" "" "" "" "1" "" "04892" "Fortunato 2025, submitted" "" "" "" "Italy" "" "0" "" "" "" "Pat43" "00467281" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH150" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 801 "{{individualid}}" "{{diseaseid}}" "00035383" "00244" "00035384" "00244" "00035385" "00244" "00035386" "00244" "00035388" "00244" "00035389" "00244" "00054696" 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"00221074" "05126" "00221084" "05126" "00221086" "05126" "00221093" "05126" "00221101" "05126" "00221130" "05126" "00221147" "05126" "00221196" "05126" "00221200" "05126" "00221207" "05126" "00221208" "05126" "00221220" "05126" "00221238" "05126" "00221249" "05126" "00221266" "05126" "00221272" "05126" "00221275" "05126" "00221280" "05126" "00221300" "05126" "00221315" "05126" "00221318" "05126" "00221331" "05126" "00221332" "05126" "00221355" "05126" "00221376" "05126" "00221378" "05126" "00221413" "05126" "00221437" "05126" "00221439" "05126" "00221441" "05126" "00221444" "05126" "00221450" "05126" "00221459" "05126" "00221467" "05126" "00221480" "05126" "00221482" "05126" "00221489" "05126" "00221493" "05126" "00221506" "05126" "00221512" "05126" "00221532" "05126" "00221540" "05126" "00221552" "05126" "00221598" "05126" "00221609" "05126" "00221639" "05126" "00221644" "05126" "00221664" "05126" "00221670" "05126" "00221674" "05126" "00221694" "05126" "00221696" "05126" "00221700" "05126" "00221702" "05126" "00221704" "05126" "00221714" "05126" "00221722" "05126" "00221771" "05126" "00221774" "05126" "00221797" "05126" "00221800" "05126" "00221808" "05126" "00221822" "05126" "00221826" "05126" "00221833" "05126" "00221865" "05126" "00221885" "05126" "00221888" "05126" "00221917" "05126" "00221918" "05126" "00221924" "05126" "00221939" "05126" "00221946" "05126" "00221955" "05126" "00221969" "05126" "00221981" "05126" "00222029" "05126" "00222037" "05126" "00222048" "05126" "00222053" "05126" "00222057" "05126" "00222094" "05126" "00222110" "05126" "00222133" "05126" "00222134" "05126" "00222165" "05126" "00222185" "05126" "00222205" "05126" "00222212" "05126" "00222244" "05126" "00222270" "05126" "00222284" "05126" "00222286" "05126" "00222307" "05126" "00222325" "05126" "00222350" "05126" "00222360" "05126" "00222365" "05126" "00222375" "05126" "00222376" "05126" "00222381" "05126" "00222389" "05126" "00222391" "05126" "00222393" "05126" "00222418" "05126" "00222424" "05126" "00222439" "05126" "00222441" "05126" "00222454" "05126" "00222476" "05126" "00222477" "05126" "00222479" "05126" "00222504" "05126" "00222509" "05126" "00222510" "05126" "00222512" "05126" "00222528" "05126" "00222560" "05126" "00222566" "05126" "00222597" "05126" "00222604" "05126" "00222614" "05126" "00222623" "05126" "00222632" "05126" "00222640" "05126" "00222673" "05126" "00222687" "05126" "00222713" "05126" "00222729" "05126" "00222738" "05126" "00222739" "05126" "00225601" "05126" "00230584" "01945" "00265785" "05121" "00265786" "05121" "00265787" "05121" "00265788" "05121" "00265789" "05121" "00265790" "05121" "00265791" "05121" "00265792" "05121" "00265793" "05121" "00265794" "05121" "00265795" "05121" "00265796" "05121" "00265797" "05121" "00265798" "05121" "00265799" "05121" "00265800" "05121" "00265801" "05121" "00265802" "05121" "00265803" "05121" "00265804" "05121" "00265805" "05121" "00265806" "05121" "00265807" "05121" "00265808" "05121" "00265809" "05121" "00265810" "05121" "00265811" "05121" "00265812" "05121" "00265813" "05121" "00265814" "05121" "00265815" "05121" "00265816" "05121" "00265817" "05121" "00265818" "05121" "00265819" "05121" "00274297" "05126" "00274316" "05126" "00274366" "05121" "00274367" "05121" "00274368" "05121" "00274369" "05121" "00274370" "05121" "00274371" "05121" "00274372" "05121" "00274373" "05121" "00274433" "05121" "00288197" "00198" "00288228" "00198" "00288981" "00244" "00289009" "00244" "00293030" "00198" "00293031" "00198" "00293032" "00198" "00295189" "00198" "00296869" "00198" "00301391" "00198" "00304881" "00198" "00305767" "05126" "00305786" "05126" "00305830" "05126" "00307185" "00385" "00307218" "00385" "00307246" "00385" "00307247" "00385" "00314144" "05126" "00314145" "05126" "00314146" "05126" "00314147" "05126" "00314148" "05126" "00314149" "05126" "00314150" "05126" "00314151" "05126" "00314152" "05126" "00314153" "05126" "00314154" "05126" "00316025" "00198" "00361985" "00360" "00363163" "05121" "00374275" "00198" "00374276" "00198" "00374277" "00198" "00374278" "00198" "00374279" "00198" "00374699" "00198" "00374700" "00198" "00388667" "00244" "00388668" "00244" "00388699" "00244" "00391934" "05324" "00391948" "05324" "00391959" "05324" "00391967" "05324" "00391968" "05324" "00391977" "05324" "00391982" "05324" "00397772" "05121" "00397780" "05121" "00397781" "05121" "00397782" "05121" "00397783" "05121" "00397784" "05121" "00397785" "05121" "00397786" "05121" "00397787" "05121" "00397788" "05121" "00397789" "05121" "00397799" "05121" "00397800" "05121" "00397801" "05121" "00397820" "05121" "00397821" "05121" "00397822" "05121" "00397823" "05121" "00397824" "05121" "00397825" "05121" "00397826" "05121" "00397827" "05121" "00397828" "05121" "00397829" "05121" "00397830" "05121" "00397831" "05121" "00397832" "05121" "00397833" "05121" "00397834" "05121" "00398988" "05618" "00399013" "05618" "00399016" "05618" "00399033" "05618" "00399064" "05618" "00399114" "05618" "00413125" "00244" "00419479" "00198" "00419480" "00198" "00419599" "00198" "00428313" "05100" "00428317" "05100" "00428471" "05100" "00428472" "05100" "00430391" "05618" "00430419" "05618" "00430449" "05618" "00430461" "05618" "00430470" "05618" "00433236" "05100" "00438469" "05121" "00438497" "05121" "00438527" "05121" "00438539" "05121" "00438548" "05121" "00442613" "05358" "00442614" "05358" "00442615" "05358" "00442616" "05358" "00442617" "05358" "00442618" "05358" "00442619" "05358" "00442620" "05358" "00442628" "05358" "00442644" "05618" "00442645" "05618" "00442706" "05618" "00442769" "05618" "00442779" "05618" "00444985" "05358" "00444986" "05358" "00445015" "05100" "00445016" "05358" "00445017" "05358" "00445018" "05358" "00445019" "05100" "00445020" "05358" "00445021" "05358" "00445023" "05100" "00445024" "05358" "00453058" "05611" "00453455" "01448" "00454551" "05121" "00460938" "00198" "00466066" "05618" "00466514" "05121" "00466515" "05121" "00466516" "05121" "00466517" "00244" "00466518" "00244" "00466519" "00244" "00466520" "00244" "00466521" "00244" "00466522" "00244" "00467281" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 00360, 00385, 01448, 01945, 04286, 04327, 05100, 05121, 05126, 05324, 05358, 05611, 05618, 07177 ## Count = 505 "{{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}}" "0000041375" "00360" "00054696" "01458" "Isolated (sporadic)" "15y" "weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic" "18m" "" "" "" "" "" "" "" "" "" "" "0000041376" "00360" "00054697" "01458" "Familial, autosomal dominant" "14y" "proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic" "23m" "" "" "" "" "" "" "" "" "" "" "0000041380" "00360" "00054701" "01458" "Familial, autosomal recessive" "12y" "infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic" "" "" "" "" "" "" "" "" "" "" "" "0000041383" "00360" "00054704" "01458" "Familial, autosomal recessive" "12y" "gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic" "6m" "" "" "" "" "" "" "" "" "" "" "0000041384" "00360" "00054705" "01458" "Familial, autosomal dominant" "9y" "infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic" "" "" "" "" "" "" "" "" "" "" "" "0000041386" "00360" "00054707" "01458" "Familial, autosomal dominant" "11y" "infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic" "" "" "" "" "" "" "" "" "" "" "" "0000041387" "00360" "00054708" "01458" "Familial, autosomal dominant" "5y" "infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic" "" "" "" "" "" "" "" "" "" "" "" "0000041388" "00360" "00054709" "01458" "Familial, autosomal dominant" "9y" "infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415)" "" "" "" "" "" "" "" "" "" "" "" "0000086185" "01448" "00108711" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086191" "01448" "00108717" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086197" "01448" "00108723" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086200" "01448" "00108726" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086206" "01448" "00108732" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086207" "01448" "00108733" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086211" "01448" "00108737" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086213" "01448" "00108739" "01955" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086214" "01448" "00108740" "01955" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086218" "01448" "00108745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086219" "00360" "00108746" "00006" "Unknown" "" "LGMD-AD, infantile onset 6 patients" "" "" "" "" "" "" "" "" "" "" "" "0000086220" "01448" "00108747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086221" "01448" "00108748" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086222" "01448" "00108749" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086223" "01448" "00108750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086224" "01448" "00108751" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086225" "01448" "00108752" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086226" "01448" "00108753" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086227" "05100" "00108754" "00449" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086228" "01448" "00108755" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086229" "05100" "00108756" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086230" "05100" "00108757" "00449" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086231" "01448" "00108758" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086232" "04286" "00108759" "00006" "Familial" "" "LGMD-AD" "" "" "" "" "" "" "" "" "" "" "" "0000086233" "01448" "00108760" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086234" "01448" "00108761" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086235" "01448" "00108762" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086236" "01448" "00108763" "00449" "Familial" "" "prominent contractures" "" "" "" "" "" "" "" "" "" "" "" "0000086237" "05100" "00108764" "00449" "Isolated (sporadic)" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "" "" "" "0000086238" "01448" "00108765" "00449" "Unknown" "" "heterozygous, change in one individual" "" "" "" "" "" "" "" "" "" "" "" "0000086239" "05100" "00108766" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086240" "01448" "00108767" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086241" "01448" "00108768" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086242" "01448" "00108769" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086243" "05100" "00108770" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086244" "05100" "00108771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086245" "05100" "00108772" "00449" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086246" "05100" "00108773" "00449" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086247" "01448" "00108774" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086248" "05100" "00108775" "00449" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086249" "01448" "00108776" "00449" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086250" "01448" "00108777" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086251" "01448" "00108778" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086252" "05100" "00108779" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086258" "01448" "00108785" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086268" "05100" "00108795" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086279" "05100" "00108806" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086296" "01448" "00108823" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086297" "01448" "00108824" "00006" "Unknown" "" "CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000086298" "01448" "00108825" "00006" "Unknown" "" "CPK increased" "" "" "" "" "" "" "" "" "" "" "" "0000086299" "01448" "00108826" "00006" "Unknown" "" "CPK increased" "" "" "" "" "" "" "" "" "" "" "" "0000086300" "01448" "00108827" "00006" "Unknown" "" "CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000086301" "01448" "00108828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086302" "01448" "00108829" "00006" "Unknown" "" "CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000086303" "01448" "00108830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086304" "05100" "00108831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086305" "01448" "00108832" "00006" "Unknown" "" "CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000086306" "01448" "00108833" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086307" "01448" "00108834" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086308" "01448" "00108835" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086309" "01448" "00108836" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086310" "01448" "00108837" "00449" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086311" "01448" "00108838" "00006" "Unknown" "" "CPK increased" "" "" "" "" "" "" "" "" "" "" "" "0000086312" "01448" "00108839" "00006" "Unknown" "" "CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000086317" "01448" "00108844" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086318" "01448" "00108845" "00449" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086319" "01448" "00108846" "00449" "Familial" "" "prominent contractures" "" "" "" "" "" "" "" "" "" "" "" "0000086320" "01448" "00108847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086322" "05100" "00108849" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086326" "01448" "00108853" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086327" "01448" "00108854" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086328" "01448" "00108855" "00464" "Unknown" "" "CPK 520" "" "" "" "" "" "" "" "" "" "" "" "0000086331" "01448" "00108858" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086333" "05100" "00108860" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086334" "01448" "00108861" "00464" "Unknown" "" "weakness, hypotonia; CPK 83" "" "" "" "" "" "" "" "" "" "" "" "0000086338" "00360" "00108865" "00464" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086339" "01448" "00108866" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086340" "05100" "00108867" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086343" "05100" "00108870" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086344" "05100" "00108871" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086345" "01448" "00108872" "00464" "Unknown" "" "hypotonia, keratosis pilaris; muslce biopsy fiber size variation, fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000086346" "05100" "00108873" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086347" "05100" "00108874" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086351" "00198" "00108878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086352" "05100" "00108879" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086354" "01448" "00108881" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086357" "05100" "00108884" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086358" "05100" "00108885" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086361" "00198" "00108888" "00464" "Unknown" "" "type VI collagenopathy" "" "" "" "" "" "" "" "" "" "" "" "0000086362" "05100" "00108889" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086366" "05100" "00108893" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086371" "01448" "00108898" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086372" "01448" "00108899" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086376" "00198" "00108903" "00464" "Unknown" "" "collagenopathy, type VI" "" "" "" "" "" "" "" "" "" "" "" "0000086379" "00198" "00108906" "00464" "Unknown" "" "collagenopathy, type VI; lost ambulation at 5 yrs, keratosis" "" "" "" "" "" "" "" "" "" "" "" "0000086380" "00198" "00108907" "00464" "Unknown" "" "collagenopathy, type VI" "" "" "" "" "" "" "" "" "" "" "" "0000086382" "00198" "00108909" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086383" "00198" "00108910" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086384" "00198" "00108911" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086385" "00198" "00108912" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086386" "00198" "00108913" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086387" "00198" "00108914" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086388" "00198" "00108915" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086389" "00198" "00108916" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086390" "00198" "00108917" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086391" "00198" "00108918" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086392" "00198" "00108919" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086393" "00198" "00108920" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086394" "00198" "00108921" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086395" "00198" "00108922" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086396" "00198" "00108923" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086397" "00198" "00108924" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086398" "00198" "00108925" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086399" "00198" "00108926" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086400" "00198" "00108927" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086401" "00198" "00108928" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086402" "00198" "00108929" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086403" "00198" "00108930" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086404" "00198" "00108931" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086405" "00198" "00108932" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086406" "00198" "00108933" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086407" "00198" "00108934" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086408" "00198" "00108935" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086409" "00198" "00108936" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086410" "00198" "00108937" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086411" "00198" "00108938" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086412" "00198" "00108939" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086413" "00198" "00108940" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086414" "00198" "00108941" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086415" "00198" "00108942" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086416" "00198" "00108943" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086417" "00198" "00108944" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086418" "00198" "00108945" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086419" "00198" "00108946" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086420" "00198" "00108947" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086421" "00198" "00108948" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086422" "00198" "00108949" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086423" "00198" "00108950" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086424" "00198" "00108951" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086425" "00198" "00108952" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086426" "00198" "00108953" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086427" "00198" "00108954" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086428" "00198" "00108955" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086429" "00198" "00108956" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086430" "00198" "00108957" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086431" "00198" "00108958" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086432" "00198" "00108959" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086433" "00198" "00108960" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086434" "00198" "00108961" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086435" "00198" "00108962" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086436" "00198" "00108963" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086437" "00198" "00108964" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086438" "00198" "00108965" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086439" "00198" "00108966" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086440" "00198" "00108967" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086441" "00198" "00108968" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086442" "00198" "00108969" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086443" "00198" "00108970" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086444" "00198" "00108971" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086445" "00198" "00108972" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086446" "00198" "00108973" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086447" "00198" "00108974" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086448" "00198" "00108975" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086449" "00198" "00108976" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086450" "00198" "00108977" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086451" "00198" "00108978" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086452" "00198" "00108979" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086453" "00198" "00108980" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086454" "00198" "00108981" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086455" "00198" "00108982" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086456" "00198" "00108983" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086457" "00198" "00108984" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086458" "00198" "00108985" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086459" "00198" "00108986" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086460" "00198" "00108987" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086461" "00198" "00108988" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086462" "00198" "00108989" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086463" "00198" "00108990" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086464" "00198" "00108991" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086465" "00198" "00108992" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086466" "00198" "00108993" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086467" "00198" "00108994" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086468" "00198" "00108995" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086469" "00198" "00108996" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086470" "00198" "00108997" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086471" "00198" "00108998" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086472" "00198" "00108999" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086473" "00198" "00109000" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086474" "00198" "00109001" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086475" "00198" "00109002" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086476" "00198" "00109003" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086477" "00198" "00109004" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086478" "00198" "00109005" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086479" "00198" "00109006" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086480" "00198" "00109007" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086481" "00198" "00109008" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086482" "00198" "00109009" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086483" "00198" "00109010" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086484" "00198" "00109011" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086485" "00198" "00109012" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086665" "00198" "00109192" "00464" "Unknown" "" "collagenopathy, type VI" "" "" "" "" "" "" "" "" "" "" "" "0000086667" "01448" "00109194" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086668" "05100" "00109195" "00464" "Familial, autosomal recessive" "" "hypotonia, hyperextensible joints" "" "" "" "" "" "" "" "" "" "" "" "0000086669" "05100" "00109196" "00537" "Isolated (sporadic)" "" "part time wheelchair (8y); 7y-first wheelchair use; walk-24m; wheelchair-bound >8y" "" "" "" "" "" "" "" "" "" "" "" "0000086670" "00198" "00109197" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086671" "00198" "00109198" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086672" "00198" "00109199" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086673" "05100" "00109200" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (7y); wheelchair-bound >7y" "" "" "" "" "" "" "" "" "" "" "" "0000086674" "05100" "00109201" "00537" "Isolated (sporadic)" "" "intermediate; walk-14m; wheelchair-bound >10y" "" "" "" "" "" "" "" "" "" "" "" "0000086675" "01448" "00109202" "00537" "Isolated (sporadic)" "" "walk-18m; wheelchair-bound >38y" "" "" "" "" "" "" "" "" "" "" "" "0000086676" "00198" "00109203" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086677" "00198" "00109204" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086678" "05100" "00109205" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (4y); walk-24m; wheelchair-bound >4y" "" "" "" "" "" "" "" "" "" "" "" "0000086679" "05100" "00109206" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (4y); walk-24m; wheelchair-bound >4y" "" "" "" "" "" "" "" "" "" "" "" "0000086680" "05100" "00109207" "00537" "Isolated (sporadic)" "" "ambulatory with assistive devices (12y); 6y-first wheelchair use; walk-12m; wheelchair-bound 6y" "" "" "" "" "" "" "" "" "" "" "" "0000086681" "05100" "00109208" "00537" "Unknown" "" "wheelchair-bound 15y" "" "" "" "" "" "" "" "" "" "" "" "0000086682" "05100" "00109209" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (13y); 9y-first wheelchair use; walk-12m; wheelchair-bound 9y" "" "" "" "" "" "" "" "" "" "" "" "0000086683" "05100" "00109210" "00537" "Isolated (sporadic)" "" "severe, early onset; never walked; wheelchair-bound 6y" "" "" "" "" "" "" "" "" "" "" "" "0000086684" "00198" "00109211" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086685" "05100" "00109212" "00537" "Isolated (sporadic)" "" "intermediate; first wheelchair use 9.5y; walk-18m; wheelchair-bound 13y" "" "" "" "" "" "" "" "" "" "" "" "0000086686" "00198" "00109213" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086687" "00198" "00109214" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086688" "00198" "00109215" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086689" "01448" "00109216" "00537" "Familial, autosomal dominant" "" "wheelchair-bound >8y" "" "" "" "" "" "" "" "" "" "" "" "0000086690" "01448" "00109217" "00537" "Familial, autosomal dominant" "" "wheelchair-bound >8y" "" "" "" "" "" "" "" "" "" "" "" "0000086691" "05100" "00109218" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (7y); walk-17m; wheelchair-bound >7y" "" "" "" "" "" "" "" "" "" "" "" "0000086692" "05100" "00109219" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (10y); walk-17m; wheelchair-bound >10y" "" "" "" "" "" "" "" "" "" "" "" "0000086693" "05100" "00109220" "00537" "Isolated (sporadic)" "" "wheelchair-bound 10y" "" "" "" "" "" "" "" "" "" "" "" "0000086694" "00198" "00109221" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086695" "00198" "00109222" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086696" "05100" "00109223" "00537" "Isolated (sporadic)" "" "intermediate; part time wheelchair (23y); walk-20m; wheelchair-bound >23y" "" "" "" "" "" "" "" "" "" "" "" "0000086697" "00000" "00109224" "00537" "Isolated (sporadic)" "" "clinically unaffected" "" "" "" "" "" "" "" "" "" "" "" "0000086698" "00198" "00109225" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086699" "05100" "00109226" "00537" "Isolated (sporadic)" "" "intermediate; walk-14m; wheelchair-bound >7y" "" "" "" "" "" "" "" "" "" "" "" "0000086700" "00198" "00109227" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086701" "00198" "00109228" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086702" "05100" "00109229" "00537" "Isolated (sporadic)" "" "intermediate; wheelchair-bound >12y" "" "" "" "" "" "" "" "" "" "" "" "0000086703" "00198" "00109230" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086704" "05100" "00109231" "00537" "Familial, autosomal dominant" "" "intermediate; walk-13m; wheelchair-bound >10y" "" "" "" "" "" "" "" "" "" "" "" "0000086705" "01448" "00109232" "00537" "Familial, autosomal dominant" "" "walk-13m; wheelchair-bound >37y" "" "" "" "" "" "" "" "" "" "" "" "0000086706" "05100" "00109233" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (41y); walk-24m; wheelchair-bound >41y" "" "" "" "" "" "" "" "" "" "" "" "0000086707" "05100" "00109234" "00537" "Isolated (sporadic)" "" "ambulatory with assistive devices (9y); 8y-first wheelchair use; walk-16m; wheelchair-bound >9y" "" "" "" "" "" "" "" "" "" "" "" "0000086708" "00198" "00109235" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086709" "00198" "00109236" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086731" "01448" "00109258" "00537" "Isolated (sporadic)" "" "wheelchair-bound >18y" "" "" "" "" "" "" "" "" "" "" "" "0000086732" "00198" "00109259" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086733" "05100" "00109260" "00537" "Unknown" "" "intermediate; walk-18m; wheelchair-bound >7y" "" "" "" "" "" "" "" "" "" "" "" "0000086734" "05100" "00109261" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (7y); walk-11m; wheelchair-bound >7y" "" "" "" "" "" "" "" "" "" "" "" "0000086739" "05100" "00109266" "00537" "Isolated (sporadic)" "" "intermediate" "" "" "" "" "" "" "" "" "" "" "" "0000086740" "05100" "00109267" "00537" "Unknown" "" "walk-18m; wheelchair-bound 5.5y" "" "" "" "" "" "" "" "" "" "" "" "0000086741" "05100" "00109268" "00537" "Unknown" "" "intermediate; walk-18m; wheelchair-bound >6y" "" "" "" "" "" "" "" "" "" "" "" "0000086742" "00198" "00109269" "00537" "Isolated (sporadic)" "" "myopathy, collagen VI-NOS; walk-20m; wheelchair-bound >2y" "" "" "" "" "" "" "" "" "" "" "" "0000086743" "05100" "00109270" "00537" "Isolated (sporadic)" "" "intermediate; walk-13m; wheelchair-bound >4y" "" "" "" "" "" "" "" "" "" "" "" "0000086744" "05100" "00109271" "00537" "Isolated (sporadic)" "" "first wheelchair use 10y; walk-18m; wheelchair-bound 12y" "" "" "" "" "" "" "" "" "" "" "" "0000086746" "05100" "00109273" "00537" "Isolated (sporadic)" "" "intermediate; ambulatory with assistive devices (10y); wheelchair-bound >10y" "" "" "" "" "" "" "" "" "" "" "" "0000086747" "01448" "00109274" "00537" "Isolated (sporadic)" "" "walk-16m; wheelchair-bound >29y" "" "" "" "" "" "" "" "" "" "" "" "0000086750" "00198" "00109277" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086751" "00198" "00109278" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086752" "00198" "00109279" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086753" "00198" "00109280" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086754" "00198" "00109281" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086755" "00198" "00109282" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086756" "00198" "00109283" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086757" "00198" "00109284" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086758" "00198" "00109285" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086759" "00198" "00109286" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086760" "00198" "00109287" "00537" "Unknown" "" "myopathy, collagen VI-NOS" "" "" "" "" "" "" "" "" "" "" "" "0000086768" "00000" "00109295" "00537" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086769" "01448" "00109296" "00464" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086770" "01448" "00109297" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086772" "05100" "00109299" "00006" "Familial, autosomal recessive" "" "severe; 0d-hypotonia, hip dysplasia, contractures; respiratory insufficiency; delayed, no sit, no walk" "" "" "" "" "" "" "" "" "" "" "" "0000086773" "00198" "00109300" "00006" "Isolated (sporadic)" "" "developmental delays; see paper …" "" "" "" "" "" "" "" "" "" "" "" "0000086774" "05100" "00109301" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086779" "05100" "00109306" "00472" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086780" "05100" "00109307" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086786" "01448" "00109313" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086787" "00198" "00109314" "00472" "Isolated (sporadic)" "" "dystrophy, muscular, congenital, Ullrich (UCMD); myopathy, Bethlem (BM)" "" "" "" "" "" "" "" "" "" "" "" "0000086794" "05100" "00109321" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086795" "01448" "00109322" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086796" "01448" "00109323" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086797" "01448" "00109324" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086798" "05100" "00109325" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086799" "05100" "00109326" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086800" "05100" "00109327" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086801" "05100" "00109328" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086802" "05126" "00109329" "00472" "Familial, autosomal dominant" "" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "" "" "" "" "" "" "0000086803" "01448" "00109330" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086804" "05100" "00109331" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086805" "05100" "00109332" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086806" "05100" "00109333" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086807" "01448" "00109334" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086808" "01448" "00109335" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086809" "01448" "00109336" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086810" "05100" "00109337" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086811" "05100" "00109338" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086812" "05100" "00109339" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086813" "05100" "00109340" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086814" "01448" "00109341" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086815" "05100" "00109342" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086816" "05100" "00109343" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086817" "01448" "00109344" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086818" "01448" "00109345" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086819" "01448" "00109346" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086820" "01448" "00109347" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086821" "01448" "00109348" "00472" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086822" "01448" "00109349" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086823" "01448" "00109350" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086824" "01448" "00109351" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086825" "05100" "00109352" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086826" "01448" "00109353" "00472" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086889" "01945" "00109416" "02188" "Familial, autosomal dominant" "" "progressive weakness, distal finger hyperlaxity, contractures of elbows, knees/ankles, mild scoliosis, mild keratosis pilaris; wheelchair-bound teens; FVC 0.31" "" "24y" "" "" "" "" "" "" "" "" "" "0000086890" "01945" "00109417" "02188" "Familial, autosomal dominant" "" "delayed motor mile stones, proximal weakness, distal finger hyperlaxity with coexisting and long finger flexor contractures: limited shoulder abduction; rigid spine, keratosis pilaris, keloid scarring; FVC 0.83" "" "" "" "" "" "" "" "" "" "" "" "0000086892" "01448" "00109419" "00464" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086893" "05100" "00109420" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119161" "05358" "00146420" "02352" "Familial, autosomal dominant" "" "childhood onset slowly progressive limb-girdle myopathy with joint contractures in fingers (\"prayer sign\")" "" "46y" "Bethlem myopathy" "" "" "" "" "" "" "" "" "0000155736" "00198" "00207967" "01164" "Unknown" "" "HP:0100491 (Abnormality of lower limb joint); HP:0010876 (Abnormality of circulating protein level); HP:0003236 (Elevated serum creatine phosphokinase); HP:0006466 (Ankle contracture)" "" "" "" "" "" "" "" "" "" "" "" "0000156163" "00244" "00035383" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156164" "00244" "00035384" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156165" "00244" "00035385" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156166" "00244" "00035386" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156167" "00244" "00035388" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156168" "00244" "00035389" "01164" "Unknown" "" "myopathia since the forth year of life, tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000157638" "00244" "00209032" "00006" "Familial, autosomal dominant" "" "congenital myopathy" "" "" "" "" "" "" "" "" "BTHLM-1" "myopathy" "" "0000170713" "05126" "00225601" "00006" "Familial, autosomal recessive" "" "raised CPK (3x), muscle biopsy shows end stage dystrophy; dystrophic muscle pathology; 15y-lost ambulation; 16y-no cardiac/respiratory complications" "04y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000173142" "01945" "00230584" "03259" "Familial, autosomal recessive" "11y" "Motor delay (HP:0001270); Proximal muscle weakness (HP:0003701); Joint laxity (HP:0001388); Generalised hypotonia (HP:0001290); Hyperextensibility of wrists (HP:0005072); Elevated serum creatine kinase (HP:0003236); EMG:myopathic abnormalities (HP:0003458); Talipes equinovarus (HP:0001762); no follicular hyperkeratosis (-HP:0007502); no flexion contracture (-HP:0001371)" "02y" "11y" "" "" "" "" "" "" "Ullrich congenital muscular dystrophy-1" "" "" "0000203571" "05121" "00265785" "00006" "Familial, autosomal dominant" "8y" "lost ambulation 6y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203572" "05121" "00265786" "00006" "Familial, autosomal dominant" "29y" "lost ambulation 11y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203573" "05121" "00265787" "00006" "Familial, autosomal dominant" "15y" "lost ambulation 3y6m" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203574" "05121" "00265788" "00006" "Familial, autosomal dominant" "30y" "lost ambulation 12y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203575" "05121" "00265789" "00006" "Familial, autosomal dominant" "24y" "lost ambulation 10y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203576" "05121" "00265790" "00006" "Familial, autosomal dominant" "23y" "lost ambulation 13y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203577" "05121" "00265791" "00006" "Familial, autosomal dominant" "15y" "lost ambulation 5y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203578" "05121" "00265792" "00006" "Familial, autosomal dominant" "17y" "lost ambulation 10y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203579" "05121" "00265793" "00006" "Familial, autosomal dominant" "15y" "lost ambulation 10y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203580" "05121" "00265794" "00006" "Familial, autosomal dominant" "8y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203581" "05121" "00265795" "00006" "Familial, autosomal dominant" "10y" "lost ambulation 8y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203582" "05121" "00265796" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203583" "05121" "00265797" "00006" "Familial, autosomal dominant" "13y" "lost ambulation 9y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203584" "05121" "00265798" "00006" "Familial, autosomal dominant" "28y" "lost ambulation 9y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203585" "05121" "00265799" "00006" "Familial, autosomal dominant" "24y" "lost ambulation 10y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203586" "05121" "00265800" "00006" "Familial, autosomal dominant" "19y" "lost ambulation 10y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203587" "05121" "00265801" "00006" "Familial, autosomal dominant" "10y" "lost ambulation 9y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203588" "05121" "00265802" "00006" "Familial, autosomal dominant" "11y" "lost ambulation 8y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203589" "05121" "00265803" "00006" "Familial, autosomal dominant" "5y" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203590" "05121" "00265804" "00006" "Familial, autosomal dominant" "7y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203591" "05121" "00265805" "00006" "Familial, autosomal dominant" "7y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203592" "05121" "00265806" "00006" "Familial, autosomal dominant" "38y" "lost ambulation 13y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203593" "05121" "00265807" "00006" "Familial, autosomal dominant" "16y" "lost ambulation 8y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203594" "05121" "00265808" "03384" "Familial, autosomal dominant" "5y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203595" "05121" "00265809" "03384" "Familial, autosomal dominant" "11y" "lost ambulation 6y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203596" "05121" "00265810" "03384" "Familial, autosomal dominant" "22y" "lost ambulation 14y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203597" "05121" "00265811" "03384" "Familial, autosomal dominant" "7y" "lost ambulation 6y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203598" "05121" "00265812" "03384" "Familial, autosomal dominant" "11y" "lost ambulation 4y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203599" "05121" "00265813" "03384" "Familial, autosomal dominant" "9y" "lost ambulation 5y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203600" "05121" "00265814" "03384" "Familial, autosomal dominant" "7y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203601" "05121" "00265815" "03384" "Familial, autosomal dominant" "17y" "lost ambulation 12y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203602" "05121" "00265816" "03384" "Familial, autosomal dominant" "12y" "lost ambulation 8y" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203603" "05121" "00265817" "03384" "Familial, autosomal dominant" "7y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203604" "05121" "00265818" "03384" "Familial, autosomal dominant" "8y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000203605" "05121" "00265819" "03384" "Familial, autosomal dominant" "5y" "still ambulant" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000209242" "05126" "00274297" "00006" "Isolated (sporadic)" "" "elevated CK level (300’s); muscle histology dystrophic; no cardiac/respiratory complications; non-ambulatory" "5y" "" "" "" "" "" "" "" "" "LGMD" "" "0000209261" "05126" "00274316" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000209309" "05121" "00274366" "00006" "Familial, autosomal dominant" "" "proximal muscle weakness, ankle contracture and dysarthria; normal skeletal muscle; elevated CK (310 IU/L); ECG or echo normal; familial" "7y" "11y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209310" "05121" "00274367" "00006" "Unknown" "" "Mild proximal muscle weakness, and contractures of ankle and finger joints; muscle myopathic pattern; elevated CK (868 IU/L); ECG or echo normal; no family history" "8y" "19y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209311" "05121" "00274368" "00006" "Unknown" "" "proximal muscle weakness and ankle contracture; elevated CK (301 IU/L); ECG or echo normal; no family history" "2y" "25y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209312" "05121" "00274369" "00006" "Unknown" "" "proximal muscle weakness, scoliosis and, contracture of ankle and knee joints; muscle dystrophic pattern with type I fiber predominance; CK 89 IU/L; ECG or echo normal; no family history" "6y" "34y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209313" "05121" "00274370" "00006" "Familial, autosomal dominant" "" "proximal muscle weakness, mild facial weakness, and contracture of ankle and cervical spine; muscle dystrophic pattern; elevated CK (321 IU/L); familial" "1y6m" "6y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209314" "05121" "00274371" "00006" "Unknown" "" "proximal muscle weakness, cramp, and ankle contracture; muscle myopathic pattern; elevated CK (303 IU/L); ECG or echo normal; no family history" "1y6m" "10y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209315" "05121" "00274372" "00006" "Familial, autosomal dominant" "" "proximal muscle weakness, cramp, and contractures of ankle, finger and wrist joints; elevated CK (153 IU/L); ECG or echo normal; familial" "7y" "19y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209316" "05121" "00274373" "00006" "Familial, autosomal dominant" "" "proximal muscle weakness, and contracture of ankle and hip joints; muscle myopathic pattern with type I fiber predominance; elevated CK (295 IU/L); ECG or echo normal; familial" "1y6m" "6y" "" "" "" "" "" "" "LGMD2B" "muscular dystrophy" "" "0000209376" "05121" "00274433" "00006" "Unknown" "" "proximal muscle weakness and ankle contracture; muscle myopathic pattern; elevated CK (361 IU/L); ECG or echo normal; no family history" "01y06m" "02y" "" "" "" "" "" "" "" "Bethlem myopathy" "" "0000221934" "00198" "00288197" "00006" "Isolated (sporadic)" "7y" "ankle contracture, areflexia, autistic features, developmental delay, dry skin, flexion contracture, gait disturbance, hip contracture, hyperextensibility, lordotic gait, muscle atrophy, muscle weakness, myopathy, poor eye contact, toe walking" "" "" "" "" "" "" "" "" "" "" "" "0000221965" "00198" "00288228" "00006" "Isolated (sporadic)" "8y" "Unilateral flexion elbow contracture, bilateral knee flexion contractures, bilateral equinus contractures, cryptorchidism, fatty replacement of skeletal muscle, hypotonia, loss of ability to walk in early childhood, motor delay, muscle fiber hypertrophy, atrophic myofibers, muscle weakness, myopathy, ventriculomegaly" "" "" "" "" "" "" "" "" "" "" "" "0000222616" "00244" "00288981" "00006" "Unknown" "" "centronuclear myopathy, congenital scoliosis" "" "" "" "" "" "" "" "" "" "centronuclear myopathy, congenital scoliosis" "" "0000222644" "00244" "00289009" "00006" "Unknown" "" "metabolic myopathy" "" "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000224266" "00198" "00296869" "01164" "Unknown" "" "Muscular dystrophy (HP:0003560)" "" "" "" "" "" "" "" "" "" "" "" "0000228569" "00198" "00301391" "01164" "Unknown" "" "Limb-girdle muscle weakness (HP:0003325); Myalgia (HP:0003326); Hypercoagulability (HP:0100724); Abnormality of coagulation (HP:0001928); Abnormal levels of creatine kinase in blood (HP:0040081)" "" "" "" "" "" "" "" "" "" "" "" "0000231613" "05126" "00305767" "00006" "Unknown" "15y" "moderate (MRC grade 3-4/5); upper limbs more severe than lower limbs; distal weakness; hypertrophy; contractures; scapular winging; elevated serum CK (max. 653 IU/L); biopsy dystrophic; inflammation" "2y" "" "" "　　　" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000231632" "05126" "00305786" "00006" "Unknown" "25y" "severe (MRC grade <3/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); contractures; spinal deformity; elevated serum CK (max. 216 IU/L); biopsy dystrophic; lobulated fiber; inflammation" "13y" "" "" "　　　" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000231676" "05126" "00305830" "00006" "Unknown" "47y" "severe (MRC grade <3/5); lower limbs more severe than upper limbs; neck flexor weakness (HP:0003722); elevated serum CK (max. 3000 IU/L); biopsy myopathic; non-rimmed vacuole; inflammation" "33y" "" "" "IHC DMD absent/reduced, SGC absent/reduced" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000232990" "00385" "00307185" "00534" "Isolated (sporadic)" "" "hip dislocation; peripheral neuropathy; arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233023" "00385" "00307218" "00534" "Unknown" "" "hip dislocation; bilateral congenital talipes; knee flexion contracture; elbow flexion contracture" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233051" "00385" "00307246" "00534" "Isolated (sporadic)" "" "elbow flexion contracture; knee flexion contracture; hyperextensibility at wrists; long fingers; long toe" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233052" "00385" "00307247" "00534" "Unknown" "" "distal arthrogryposis; myopathy; abnormal facial shape; short stature; bilateral congenital talipes; limb-girdle muscle weakness (proximal)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000257378" "00360" "00361985" "04047" "Isolated (sporadic)" "" "Seizure HP:0001250\r\nHypotonia HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "0000258529" "05121" "00363163" "00454" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269485" "00198" "00374275" "00006" "Familial, autosomal recessive" "" "Dysmorphic facies, kyphoscoliosis, hyperextensibility of joints and severe muscle wasting, suggestive of UCMD" "" "" "" "" "" "" "" "" "" "Ullrich muscular dystrophy" "" "0000269486" "00198" "00374276" "00006" "Familial, autosomal dominant" "" "Delay in attaining motor milestones, history of recurrent falls, and high CPK levels, suggestive of muscular dystrophy." "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000269487" "00198" "00374277" "00006" "Familial, autosomal dominant" "" "Muscle weakness, myopathy and muscular dystrophy, suggestive of UCMD or Bethlem myopathy." "" "" "" "" "" "" "" "" "" "muscular dystrophy, myopathy" "" "0000269488" "00198" "00374278" "00006" "Familial, autosomal dominant" "" "Motor delay and muscle weakness" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000269489" "00198" "00374279" "00006" "Familial, autosomal recessive" "" "Delayed motor milestones, hypotonia, proximal muscle weakness, hyperextensible joints and myopathic facies" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000269909" "00198" "00374699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269910" "00198" "00374700" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000282207" "00244" "00388667" "00006" "Familial, autosomal recessive" "37y" "proximal muscle weakness; CK level 1056 IU/L; Vastus lateralis muscle MRI showing “sandwich” sign; Difficulty getting up from ground and toe walking;Finger flexors and tendo-achilis contractures; Most-affected muscles: Hip extensors and adductors, ankle dorsiflexors" "12y" "" "" "" "" "" "" "" "" "" "" "0000282208" "00244" "00388668" "00006" "Familial, autosomal dominant" "40y" "proximal muscle weakness; CK level 212 IU/L; Vastus lateralis muscle MRI showing “sandwich” sign; Difficulty getting up from ground and toe walking;Finger flexors and tendo-achilis contractures; Most-affected muscles: Hip extensors and adductors, ankle dorsiflexors" "5y" "" "" "" "" "" "" "" "" "" "" "0000282239" "00244" "00388699" "00006" "Familial, autosomal recessive" "11y" "distal muscle weakness, proximal muscle weakness; CK level 455 IU/L; Vastus lateralis muscle MRI showing “sandwich” sign; Difficulty getting up from ground and toe walking;Finger flexors and tendo-achilis contractures; Most-affected muscles: Hip extensors and adductors, ankle dorsiflexors" "9y6m" "" "" "" "" "" "" "" "" "" "" "0000285224" "05324" "00391934" "03501" "Unknown" "7y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551)" "4y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285238" "05324" "00391948" "03501" "Unknown" "6y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285249" "05324" "00391959" "03501" "Unknown" "8y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355)" "1d" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285257" "05324" "00391967" "03501" "Unknown" "2y" "delayed fine motor development (HP:0010862), Gowers sign (HP:0003391), difficulty climbing stairs (HP:0003551), proximal muscle weakness (HP:0003701)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285258" "05324" "00391968" "03501" "Unknown" "11y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), proximal muscle weakness (HP:0003701)," "1y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285267" "05324" "00391977" "03501" "Unknown" "3y" "frequent falls (HP:0002359)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285272" "05324" "00391982" "03501" "Unknown" "8y" "Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701)" "2y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000290899" "05121" "00397772" "00006" "Familial, autosomal recessive" "21y" "CPK 653 U/L" "" "" "" "" "" "" "" "" "LGMDR22" "limb-girdle muscular dystrophy" "" "0000290907" "05121" "00397780" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290908" "05121" "00397781" "00006" "Isolated (sporadic)" "" "mild Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290909" "05121" "00397782" "00006" "Isolated (sporadic)" "" "early severe Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290910" "05121" "00397783" "00006" "Isolated (sporadic)" "" "early severe Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290911" "05121" "00397784" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290912" "05121" "00397785" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290913" "05121" "00397786" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290914" "05121" "00397787" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290915" "05121" "00397788" "00006" "Isolated (sporadic)" "" "early severe Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290916" "05121" "00397789" "00006" "Isolated (sporadic)" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290926" "05121" "00397799" "00006" "Familial, autosomal recessive" "" "early severe Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290927" "05121" "00397800" "00006" "Familial, autosomal recessive" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290928" "05121" "00397801" "00006" "Familial, autosomal recessive" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290947" "05121" "00397820" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290948" "05121" "00397821" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290949" "05121" "00397822" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290950" "05121" "00397823" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290951" "05121" "00397824" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290952" "05121" "00397825" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290953" "05121" "00397826" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290954" "05121" "00397827" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290955" "05121" "00397828" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290956" "05121" "00397829" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290957" "05121" "00397830" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290958" "05121" "00397831" "00006" "Familial, autosomal dominant" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290959" "05121" "00397832" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290960" "05121" "00397833" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000290961" "05121" "00397834" "00006" "Isolated (sporadic)" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000292076" "05618" "00398988" "00006" "Unknown" "" "distal contractures, skin biopsy compatible with bethlem myopathy" "2y" "" "" "" "" "" "" "" "" "COL6-realted myopathy" "" "0000292101" "05618" "00399013" "00006" "Unknown" "" "serum CK 749 U/L; reduced collagen vi expression in skin biopsy" "4y" "" "" "" "" "" "" "" "" "COL6-realted myopathy" "" "0000292104" "05618" "00399016" "00006" "Unknown" "" "limb-girdle muscle weakness, limb contractures" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292121" "05618" "00399033" "00006" "Unknown" "" "dry skin with hyperkeratosis, joint hyperlaxity, bilateral and symmetric atrophy, atrophy with fatty infiltration muscle groups both shoulder girdles" "1d" "" "" "" "" "" "" "" "" "COL6-realted myopathy" "" "0000292152" "05618" "00399064" "00006" "Unknown" "" "serum CK 350 U/L; hypotonia, COLVI reduction skin biopsy" "<1m" "" "" "" "" "" "" "" "" "COL6-realted myopathy" "" "0000292202" "05618" "00399114" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "COL6-realted myopathy" "" "0000305106" "00244" "00413125" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMDD5" "LGMD" "" "0000310760" "00198" "00419479" "02300" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310761" "00198" "00419480" "02300" "Isolated (sporadic)" "17y" "myopathy, hypermobility, joint contractures, scoliosis" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310880" "00198" "00419599" "02300" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000319221" "05100" "00428317" "04448" "Isolated (sporadic)" "" "" "" "02y" "" "" "" "" "" "" "UCMD" "" "" "0000319376" "05100" "00428471" "04448" "Familial, autosomal dominant" "" "" "" "12y" "" "" "" "" "" "" "UCMD" "" "" "0000319377" "05100" "00428472" "04448" "Familial, autosomal dominant" "" "" "" "07y" "" "" "" "" "" "" "UCMD" "" "" "0000321188" "05618" "00430391" "00006" "Familial, autosomal dominant" "10y" "hyperCKemia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321216" "05618" "00430419" "00006" "Familial, autosomal dominant" "28y" "muscle weakness, mild hyperCKemia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321246" "05618" "00430449" "00006" "Familial, autosomal dominant" "21y" "muscle weakness, CK normal; muscle biopsy dystrophic changes" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321258" "05618" "00430461" "00006" "Unknown" "7y" "congenital myopathy, scoliosis" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321267" "05618" "00430470" "00006" "Unknown" "9y" "muscle weakness, contractures, myopathic changes on EMG" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000328372" "05121" "00438469" "00006" "Familial, autosomal dominant" "10y" "hyperCKemia" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328400" "05121" "00438497" "00006" "Familial, autosomal dominant" "28y" "muscle weakness, mild hyperCKemia" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328430" "05121" "00438527" "00006" "Familial, autosomal dominant" "21y" "muscle weakness, ck normal muscle biopsy: dystrophic changes" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328442" "05121" "00438539" "00006" "Unknown" "7y" "congenital myopathy, scoliosis" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328451" "05121" "00438548" "00006" "Unknown" "9y" "muscle weakness, contractures, myopathic changes on emg" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000331960" "05358" "00442613" "00006" "Unknown" "" "CK <170 IU/L; MRI muscle typical; muscle biopsy lobulated fibers; onset childhood; weakness facial, cervical, proximal UL and LL; contractures wrists, interphalangeal, ankles; scoliosis; no cutaneous alterations; non invasive mechanical ventilation" "" "43y" "floppy newborn" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000331961" "05358" "00442614" "00006" "Unknown" "" "CK 450 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness proximal UL and LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency" "" "49y" "weakness" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000331962" "05358" "00442615" "00006" "Unknown" "" "CK <170 IU/L; MRI muscle typical; muscle biopsy dystrophy; onset childhood; weakness cervical, proximal UL and LL; contractures elbows, wrists, interphalangeal, ankles; no scoliosis; cigarette paper scars; non invasive mechanical ventilation" "" "72y" "clumsiness, contractures" "" "" "" "" "" "" "Bethlem myopathy" "" "0000331963" "05358" "00442616" "00006" "Unknown" "" "CK 2800 IU/L; MRI muscle unilateral medial gastrocnemius peripheral infiltration; muscle biopsy minimum non-specific changes; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency" "" "31y" "hyperckemia" "" "" "" "" "" "" "Bethlem myopathy" "" "0000331964" "05358" "00442617" "00006" "Unknown" "" "CK 570 IU/L; MRI muscle normal; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency" "" "33y" "asymptomatic" "" "" "" "" "" "" "Bethlem myopathy" "" "0000331965" "05358" "00442618" "00006" "Unknown" "" "CK <170 IU/L; MRI muscle normal; weakness cervical, fingers, proximal LL; contractures interphalangeal, ankles; scoliosis; no cutaneous alterations; no entilatory insufficiency" "" "61y" "asymptomatic" "" "" "" "" "" "" "Bethlem myopathy" "" "0000331966" "05358" "00442619" "00006" "Unknown" "" "CK 1200 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness proximal UL and LL; contractures interphalangeal, knees; no scoliosis; no cutaneous alterations; no entilatory insufficiency" "35y" "42y" "weakness" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000331967" "05358" "00442620" "00006" "Unknown" "" "CK <170 IU/L; MRI muscle typical; onset childhood; weakness proximal and distal UL, proximal LL; contractures elbows, wrists, interphalangeal; no scoliosis; hyper-keratosis; no entilatory insufficiency" "" "65y" "weakness, contractures" "" "" "" "" "" "" "Bethlem myopathy" "" "0000331975" "05358" "00442628" "00006" "Unknown" "" "CK 830 IU/L; MRI muscle typical; onset childhood; weakness distal LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency" "" "19y" "weakness, contractures" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000331991" "05618" "00442644" "00006" "Unknown" "" "Myopathy, generalised weakness, hypotonia, atrophy" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000331992" "05618" "00442645" "00006" "Isolated (sporadic)" "5y" "Congenital myopathy: delayed motor development, hypotonia and mild diffuse weakness; muscle biopsy: type 1 fiber size predominance; CK = 72 U/l" "1d" "" "" "" "" "" "" "" "" "Congenital myopathy" "" "0000332053" "05618" "00442706" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000332116" "05618" "00442769" "00006" "Unknown" "" "Rhabdomyolysis, hyperCKaemia and exercise intolerance" "" "" "" "" "" "" "" "" "" "rhabdomyolysis, hyperCKemia" "" "0000332126" "05618" "00442779" "00006" "Unknown" "" "Hypotonia, lethargy, motor delay, feeding difficulties, failure to thrive, possible centronuclear myopathy" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000334235" "05358" "00444985" "04618" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334236" "05358" "00444986" "04618" "Familial, autosomal recessive" "" "" "03y" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334237" "05358" "00444986" "04618" "Familial, autosomal recessive" "" "" "04y" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334267" "05100" "00445015" "04618" "Unknown" "" "" "00y" "02y" "" "" "" "" "" "" "UCDM1" "Ullrich congenital muscular dystrophy" "" "0000334268" "05358" "00445016" "04618" "Familial, autosomal dominant" "" "" "04y" "15y" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334269" "05358" "00445017" "04618" "Unknown" "" "" "02y" "07y" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334270" "05358" "00445017" "04618" "Familial, autosomal dominant" "02y" "" "02y" "" "" "" "" "" "" "" "UCDM1" "Bethlem myopathy" "" "0000334271" "05358" "00445018" "04618" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334272" "05100" "00445019" "04618" "Unknown" "" "" "00y" "00y" "" "" "" "" "" "" "UCDM1" "Ullrich congenital muscular dystrophy" "" "0000334273" "05358" "00445020" "04618" "Unknown" "" "Loss of walk at 10yo" "03y" "03y" "" "" "" "" "" "" "UCDM1" "Bethlem myopathy" "" "0000334274" "05358" "00445021" "04618" "Unknown" "" "" "00y" "12y" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000334276" "05100" "00445023" "04618" "Familial, autosomal recessive" "" "" "00y" "00y" "" "" "" "" "" "" "UCDM1" "Ullrich congenital muscular dystrophy" "" "0000334277" "05358" "00445024" "04618" "Di-genic" "" "" "08y" "43y" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000341703" "05611" "00453058" "00006" "Isolated (sporadic)" "21y3m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000342119" "01448" "00453455" "01164" "Familial, autosomal dominant" "49y" "Myopathy, Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration" "" "" "" "" "" "" "" "" "" "" "" "0000343206" "05121" "00454551" "00006" "Unknown" "" "Walking unsteadily; positive Gowers\' sign; no hypertrophy gastrocnemius; limb muscle force 4; 10m walk 4.74 sec; serum CK level (151 U/L); no family history" "2y" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000351452" "05618" "00466066" "03544" "Isolated (sporadic)" "" "HP:0011805, HP:0003236" "" "" "" "" "" "" "" "" "COL6A1-related" "neuromuscular disorder" "" "0000351877" "05121" "00466514" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "UCMD1A" "Uhlrich congenital muscular dystrophy" "" "0000351878" "05121" "00466515" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "UCMD1A" "Uhlrich congenital muscular dystrophy" "" "0000351879" "05121" "00466516" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "UCMD1A" "Uhlrich congenital muscular dystrophy" "" "0000351880" "00244" "00466517" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "INT" "intermediate" "" "0000351881" "00244" "00466518" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "INT/BM" "intermediate/Bethlem myopthy" "" "0000351882" "00244" "00466519" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "INT/BM" "intermediate/Bethlem myopthy" "" "0000351883" "00244" "00466520" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "INT/BM" "intermediate/Bethlem myopthy" "" "0000351884" "00244" "00466521" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "BTHLM1A" "Bethlem myopthy" "" "0000351885" "00244" "00466522" "04892" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "BTHLM1A" "Bethlem myopthy" "" "0000352488" "00198" "00467281" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bethlem myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 828 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035453" "00035383" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035454" "00035384" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035455" "00035385" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035456" "00035386" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035457" "00035387" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035458" "00035388" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035459" "00035389" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035460" "00035390" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035461" "00035391" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035462" "00035392" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035463" "00035393" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035464" "00035394" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035465" "00035395" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035466" "00035396" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035467" "00035397" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035468" "00035398" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035469" "00035399" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035470" "00035400" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035471" "00035401" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035472" "00035402" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035473" "00035403" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035474" "00035404" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035475" "00035405" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035476" "00035406" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035477" "00035407" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035478" "00035408" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035479" "00035409" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035480" "00035410" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035481" "00035411" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035482" "00035412" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035483" "00035413" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035484" "00035414" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035485" "00035415" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035486" "00035416" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035487" "00035417" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000054645" "00054696" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054646" "00054697" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054650" "00054701" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054653" "00054704" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054654" "00054705" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054656" "00054707" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054657" "00054708" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000054658" "00054709" "1" "01458" "01458" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000109176" "00108711" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109182" "00108717" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109188" "00108723" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109191" "00108726" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109197" "00108732" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109198" "00108733" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109202" "00108737" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109204" "00108739" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109205" "00108740" "1" "01955" "00006" "2017-07-26 13:46:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000109211" "00108745" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA;RNA" "" "" "0000109212" "00108746" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SSCA;SEQ" "DNA" "" "" "0000109213" "00108747" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109214" "00108748" "1" "00449" "00006" "2005-09-15 12:18:18" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109215" "00108749" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA;RNA" "" "" "0000109216" "00108750" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109217" "00108751" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-03-09 19:15:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109218" "00108752" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109219" "00108753" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "RT-PCR;HD;SEQ" "DNA;RNA" "" "" "0000109220" "00108754" "1" "00449" "00006" "2005-09-14 08:11:10" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ;DHPLC" "DNA;RNA" "" "" "0000109221" "00108755" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109222" "00108756" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA;RNA" "" "" "0000109223" "00108757" "1" "00449" "00006" "2005-09-15 10:35:56" "00006" "2012-11-02 20:40:46" "RT-PCR;SEQ;DHPLC" "DNA;RNA" "" "" "0000109224" "00108758" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109225" "00108759" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SSCA;SEQ" "DNA" "" "" "0000109226" "00108760" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "RT-PCR;HD;SEQ" "DNA;RNA" "" "" "0000109227" "00108761" "1" "00449" "00006" "2005-09-15 11:42:15" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109228" "00108762" "1" "00449" "00006" "2005-09-15 11:51:14" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109229" "00108763" "1" "00449" "00006" "2005-09-15 11:48:01" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109230" "00108764" "1" "00449" "00006" "2005-12-29 18:06:28" "00006" "2012-03-09 19:15:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109231" "00108765" "1" "00449" "00006" "2005-12-29 18:13:43" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109232" "00108766" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-03-09 19:15:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109233" "00108767" "1" "00449" "00006" "2005-09-15 13:10:00" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109234" "00108768" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109235" "00108769" "1" "00449" "00006" "2005-09-15 12:14:47" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109236" "00108770" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109237" "00108771" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109238" "00108772" "1" "00449" "00006" "2005-09-15 10:39:32" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ;DHPLC" "DNA;RNA" "" "" "0000109239" "00108773" "1" "00449" "00006" "2005-09-14 08:08:01" "00006" "2012-11-02 20:40:46" "RT-PCR;SEQ;DHPLC" "DNA;RNA" "" "" "0000109240" "00108774" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109241" "00108775" "1" "00449" "00006" "2005-09-15 10:42:19" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ;DHPLC" "DNA;RNA" "" "" "0000109242" "00108776" "1" "00449" "00006" "2005-09-15 13:17:35" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109243" "00108777" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109244" "00108778" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "PTT;RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109245" "00108779" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-03-09 19:15:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109251" "00108785" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109261" "00108795" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109272" "00108806" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109289" "00108823" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109290" "00108824" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109291" "00108825" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109292" "00108826" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109293" "00108827" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109294" "00108828" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109295" "00108829" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109296" "00108830" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:43" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109297" "00108831" "1" "00006" "00006" "2005-09-15 10:39:32" "00006" "2012-11-02 20:40:43" "SEQ" "DNA" "" "" "0000109298" "00108832" "1" "00006" "00006" "2008-10-12 12:37:16" "00006" "2012-11-02 20:40:44" "RT-PCR;PTT;SEQ" "DNA;RNA" "" "" "0000109299" "00108833" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109300" "00108834" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109301" "00108835" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109302" "00108836" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109303" "00108837" "1" "00449" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109304" "00108838" "1" "00006" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "SEQ" "DNA" "" "" "0000109305" "00108839" "1" "00006" "00006" "2005-09-15 11:55:42" "00006" "2012-11-02 20:40:44" "SEQ" "DNA" "" "" "0000109310" "00108844" "1" "00449" "00006" "2005-09-15 11:42:15" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109311" "00108845" "1" "00449" "00006" "2005-09-15 11:42:15" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109312" "00108846" "1" "00449" "00006" "2005-09-15 11:48:01" "00006" "2012-11-02 20:40:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109313" "00108847" "1" "00006" "00006" "2005-02-28 22:00:00" "00006" "2012-11-02 20:40:44" "SEQ" "DNA;RNA" "" "" "0000109315" "00108849" "1" "00464" "00006" "2009-03-19 19:08:11" "00006" "2012-11-02 20:40:44" "SEQ" "DNA" "" "" "0000109319" "00108853" "1" "00464" "00006" "2009-07-14 22:40:18" "00006" "2012-11-02 20:40:44" "SEQ" "DNA" "" "" "0000109320" "00108854" "1" "00464" "00006" "2009-08-03 21:28:27" "00006" "2012-03-09 19:12:07" "SEQ" "DNA" "" "" "0000109321" "00108855" "1" "00464" "00006" "2009-08-13 17:54:27" "00006" "2012-11-02 20:40:44" "SEQ" "DNA" "" "" 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16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109677" "00109211" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109678" "00109212" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109679" "00109213" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109680" "00109214" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109681" "00109215" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109682" "00109216" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109683" "00109217" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109684" "00109218" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109685" "00109219" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109686" "00109220" "1" "00537" "00006" "2013-08-01 16:51:22" "" "" "PCR;SEQ" "DNA" "" "" "0000109687" 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"" "" "SEQ" "DNA" "" "" "0000109802" "00109336" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109803" "00109337" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109804" "00109338" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109805" "00109339" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109806" "00109340" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109807" "00109341" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109808" "00109342" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109809" "00109343" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109810" "00109344" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "SEQ" "DNA" "" "" "0000109811" "00109345" "1" "00472" "00006" "2014-03-23 12:57:17" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109812" "00109346" "1" "00472" "00006" 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"00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223758" "00222687" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223784" "00222713" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223800" "00222729" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223809" "00222738" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223810" "00222739" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000226680" "00225601" "1" "00006" "00006" "2019-02-18 20:11:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000231678" "00230584" "1" "03259" "03259" "2019-04-16 13:20:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000266908" "00265785" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000266909" "00265786" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000266910" "00265787" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266911" "00265788" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266912" "00265789" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266913" "00265790" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266914" "00265791" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266915" "00265792" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266916" "00265793" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266917" "00265794" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266918" "00265795" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266919" "00265796" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266920" "00265797" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266921" "00265798" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266922" "00265799" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266923" "00265800" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266924" "00265801" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266925" "00265802" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266926" "00265803" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266927" "00265804" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000266928" "00265805" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000266929" "00265806" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266930" "00265807" "1" "00006" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266931" "00265808" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266932" "00265809" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266933" "00265810" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266934" "00265811" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266935" "00265812" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266936" "00265813" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266937" "00265814" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266938" "00265815" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266939" "00265816" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266940" "00265817" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266941" "00265818" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000266942" "00265819" "1" "03384" "00006" "2019-10-05 16:25:03" "" "" "SEQ" "DNA" "" "" "0000275453" "00274297" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275472" "00274316" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275525" "00274366" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275526" "00274367" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275527" "00274368" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275528" "00274369" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275529" "00274370" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275530" "00274371" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275531" "00274372" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275532" "00274373" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000275592" "00274433" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000289366" "00288197" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "muscle, fibroblast" "WES" "0000289397" "00288228" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "muscle" "WES" "0000290149" "00288981" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290177" "00289009" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000294198" "00293030" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294199" "00293031" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294200" "00293032" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296357" "00295189" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297979" "00296869" "1" "01164" "01164" "2020-04-14 14:31:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302512" "00301391" "1" "01164" "01164" "2020-05-15 11:18:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306010" "00304881" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306897" "00305767" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000306916" "00305786" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000306960" "00305830" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000308327" "00307185" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308360" "00307218" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308388" "00307246" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308389" "00307247" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000315317" "00314144" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315318" "00314145" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315319" "00314146" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315320" "00314147" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315321" "00314148" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315322" "00314149" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315323" "00314150" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315324" "00314151" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315325" "00314152" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315326" "00314153" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315327" "00314154" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363214" "00361985" "1" "04047" "04047" "2021-04-13 10:34:05" "" "" "SEQ-NG" "DNA" "" "" "0000364391" "00363163" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000375469" "00374275" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375470" "00374276" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375471" "00374277" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375472" "00374278" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375473" "00374279" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375893" "00374699" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375894" "00374700" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389909" "00388667" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389910" "00388668" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389941" "00388699" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000393176" "00391934" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, NEB, NEB, SGCB, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393190" "00391948" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, KBTBD13, SGCB, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393201" "00391959" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, SGCG, COL6A1, SGCB, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393209" "00391967" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, COL6A1, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393210" "00391968" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, DHTKD1, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393219" "00391977" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, PRX, PRX, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393224" "00391982" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1" "0000399014" "00397772" "1" "00006" "00006" "2021-12-29 09:36:33" "" "" "SEQ;SEQ-NG" "DNA" "" "29-gene panel" "0000399022" "00397780" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399023" "00397781" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399024" "00397782" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399025" "00397783" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399026" "00397784" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399027" "00397785" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399028" "00397786" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399029" "00397787" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399030" "00397788" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399031" "00397789" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399041" "00397799" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399042" "00397800" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399043" "00397801" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399062" "00397820" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399063" "00397821" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399064" "00397822" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399065" "00397823" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399066" "00397824" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399067" "00397825" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399068" "00397826" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399069" "00397827" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399070" "00397828" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399071" "00397829" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399072" "00397830" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399073" "00397831" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399074" "00397832" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399075" "00397833" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399076" "00397834" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000400233" "00398988" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400258" "00399013" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400261" "00399016" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400278" "00399033" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400309" "00399064" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400359" "00399114" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000414395" "00413125" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420783" "00419479" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420784" "00419480" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420903" "00419599" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429725" "00428313" "1" "04448" "04448" "2022-12-31 09:47:39" "00006" "2023-01-05 12:14:39" "SEQ-NG" "DNA" "" "" "0000429729" "00428317" "1" "04448" "04448" "2022-12-31 11:30:45" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000429883" "00428471" "1" "04448" "04448" "2023-01-04 10:15:47" "" "" "SEQ-NG" "DNA" "blood" "" "0000429884" "00428472" "1" "04448" "04448" "2023-01-04 10:28:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000431800" "00430391" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431828" "00430419" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431858" "00430449" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431870" "00430461" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431879" "00430470" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000434690" "00433236" "1" "03361" "03361" "2023-03-03 17:14:51" "03361" "2023-03-03 17:25:06" "SEQ-NG-IT" "DNA" "" "" "0000439951" "00438469" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000439979" "00438497" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440009" "00438527" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440021" "00438539" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440030" "00438548" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000444097" "00442613" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444098" "00442614" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444099" "00442615" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444100" "00442616" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444101" "00442617" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444102" "00442618" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444103" "00442619" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444104" "00442620" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444112" "00442628" "1" "00006" "00006" "2023-11-23 09:55:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000444128" "00442644" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444129" "00442645" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444190" "00442706" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444253" "00442769" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444263" "00442779" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000446554" "00444985" "1" "04618" "04618" "2023-12-29 15:26:08" "" "" "SEQ-NG" "DNA" "" "" "0000446555" "00444986" "1" "04618" "04618" "2023-12-29 15:39:50" "" "" "SEQ-NG" "DNA" "" "" "0000446585" "00445015" "1" "04618" "04618" "2023-12-29 16:35:01" "" "" "SEQ-NG" "DNA" "" "" "0000446586" "00445016" "1" "04618" "04618" "2023-12-29 16:43:29" "" "" "SEQ-NG" "DNA" "" "" "0000446587" "00445017" "1" "04618" "04618" "2023-12-29 16:49:39" "" "" "SEQ-NG" "DNA" "" "" "0000446588" "00445018" "1" "04618" "04618" "2023-12-29 16:54:19" "" "" "SEQ-NG" "DNA" "" "" "0000446589" "00445019" "1" "04618" "04618" "2023-12-29 16:58:35" "" "" "SEQ-NG" "DNA" "" "" "0000446590" "00445020" "1" "04618" "04618" "2023-12-29 17:03:40" "" "" "SEQ-NG" "DNA" "" "" "0000446591" "00445021" "1" "04618" "04618" "2023-12-29 17:10:37" "" "" "SEQ-NG" "DNA" "" "" "0000446593" "00445023" "1" "04618" "04618" "2023-12-29 17:20:41" "" "" "SEQ-NG" "DNA" "" "" "0000446594" "00445024" "1" "04618" "04618" "2023-12-29 17:24:24" "" "" "SEQ-NG" "DNA" "" "" "0000454669" "00453058" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000455069" "00453455" "1" "01164" "01164" "2024-08-30 15:41:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000456164" "00454551" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" "0000462570" "00460938" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000467721" "00466066" "1" "03544" "03544" "2025-07-24 09:49:35" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468177" "00466514" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468178" "00466515" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468179" "00466516" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468180" "00466517" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468181" "00466518" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468182" "00466519" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468183" "00466520" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468184" "00466521" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468185" "00466522" "1" "04892" "00006" "2025-09-09 13:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000468944" "00467281" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 520 "{{screeningid}}" "{{geneid}}" "0000035453" "COL6A1" "0000035454" "COL6A1" "0000035455" "COL6A1" "0000035456" "COL6A1" "0000035457" "COL6A1" "0000035458" "COL6A1" "0000035459" "COL6A1" "0000035460" "COL6A1" "0000035461" "COL6A1" "0000035462" "COL6A1" "0000035463" "COL6A1" "0000035464" "COL6A1" "0000035465" "COL6A1" "0000035466" "COL6A1" "0000035467" "COL6A1" "0000035468" "COL6A1" "0000035469" "COL6A1" "0000035470" "COL6A1" "0000035471" "COL6A1" "0000035472" "COL6A1" "0000035473" "COL6A1" "0000035474" "COL6A1" "0000035475" "COL6A1" "0000035476" "COL6A1" "0000035477" "COL6A1" "0000035478" "COL6A1" "0000035479" "COL6A1" "0000035480" "COL6A1" "0000035481" "COL6A1" "0000035482" "COL6A1" "0000035483" "COL6A1" "0000035484" "COL6A1" "0000035485" "COL6A1" "0000035486" "COL6A1" "0000035487" "COL6A1" "0000054645" "COL6A1" "0000054646" "COL6A1" "0000054650" "COL6A1" "0000054653" "COL6A1" "0000054654" "COL6A1" "0000054654" "COL6A2" "0000054656" "COL6A1" "0000054657" "COL6A1" "0000054658" "COL6A1" "0000109176" "COL6A1" "0000109176" "COL6A2" "0000109182" "COL6A1" "0000109188" "COL6A1" "0000109191" "COL6A1" "0000109197" "COL6A1" "0000109198" "COL6A1" "0000109202" "COL6A1" "0000109204" "COL6A1" "0000109205" "COL6A1" "0000109211" "COL6A1" "0000109212" "COL6A1" "0000109213" "COL6A1" "0000109214" "COL6A1" "0000109215" "COL6A1" "0000109216" "COL6A1" "0000109217" "COL6A1" "0000109218" "COL6A1" "0000109219" "COL6A1" "0000109220" "COL6A1" "0000109221" "COL6A1" "0000109221" "COL6A3" "0000109222" "COL6A1" "0000109223" "COL6A1" "0000109223" "COL6A2" "0000109223" "COL6A3" "0000109224" "COL6A1" "0000109225" "COL6A1" "0000109226" "COL6A1" "0000109227" "COL6A1" "0000109228" "COL6A1" "0000109229" "COL6A1" "0000109230" "COL6A1" "0000109231" "COL6A1" "0000109232" "COL6A1" "0000109233" "COL6A1" "0000109234" "COL6A1" "0000109234" "COL6A3" "0000109235" "COL6A1" "0000109236" "COL6A1" "0000109236" "COL6A2" "0000109237" "COL6A1" "0000109238" "COL6A1" "0000109238" "COL6A2" "0000109238" "COL6A3" "0000109239" "COL6A1" "0000109239" "COL6A2" "0000109239" "COL6A3" "0000109240" "COL6A1" "0000109240" "COL6A3" "0000109241" "COL6A1" "0000109241" "COL6A2" "0000109241" "COL6A3" "0000109242" "COL6A1" "0000109243" "COL6A1" "0000109244" "COL6A1" "0000109245" "COL6A1" "0000109251" "COL6A1" "0000109261" "COL6A1" "0000109261" "COL6A2" "0000109272" "COL6A1" "0000109289" "COL6A1" "0000109289" "COL6A2" "0000109289" "COL6A3" "0000109290" "COL6A1" "0000109290" "COL6A2" "0000109290" "COL6A3" "0000109291" "COL6A1" "0000109291" "COL6A2" "0000109291" "COL6A3" "0000109292" "COL6A1" "0000109292" "COL6A2" "0000109292" "COL6A3" "0000109293" "COL6A1" "0000109293" "COL6A2" "0000109293" "COL6A3" "0000109294" "COL6A1" "0000109294" "COL6A2" "0000109294" "COL6A3" "0000109295" "COL6A1" "0000109295" "COL6A2" "0000109295" "COL6A3" "0000109296" "COL6A1" "0000109296" "COL6A2" "0000109296" "COL6A3" "0000109297" "COL6A1" "0000109298" "COL6A1" "0000109299" "COL6A1" "0000109300" "COL6A1" "0000109301" "COL6A1" "0000109302" "COL6A1" "0000109303" "COL6A1" "0000109304" "COL6A1" "0000109305" "COL6A1" "0000109310" "COL6A1" "0000109311" "COL6A1" "0000109312" "COL6A1" "0000109313" "COL6A1" "0000109315" "COL6A1" "0000109319" "COL6A1" "0000109320" "COL6A1" "0000109321" "COL6A1" "0000109324" "COL6A1" "0000109326" "COL6A1" "0000109327" "COL6A1" "0000109331" "COL6A1" "0000109332" "COL6A1" "0000109333" "COL6A1" "0000109336" "COL6A1" "0000109337" "COL6A1" "0000109338" "COL6A1" "0000109339" "COL6A1" "0000109340" "COL6A1" "0000109344" "COL6A1" "0000109344" "COL6A2" "0000109345" "COL6A1" "0000109345" "COL6A3" "0000109347" "COL6A1" "0000109350" "COL6A1" "0000109351" "COL6A1" "0000109354" "COL6A1" "0000109355" "COL6A1" "0000109359" "COL6A1" "0000109364" "COL6A1" "0000109365" "COL6A1" "0000109369" "COL6A1" "0000109372" "COL6A1" "0000109373" "COL6A1" "0000109375" "COL6A1" "0000109376" "COL6A1" "0000109377" "COL6A1" "0000109378" "COL6A1" "0000109379" "COL6A1" "0000109380" "COL6A1" "0000109381" "COL6A1" "0000109382" "COL6A1" "0000109383" "COL6A1" "0000109384" "COL6A1" "0000109385" "COL6A1" "0000109386" "COL6A1" "0000109387" "COL6A1" "0000109388" "COL6A1" "0000109389" "COL6A1" "0000109390" "COL6A1" "0000109391" "COL6A1" "0000109392" "COL6A1" "0000109393" "COL6A1" "0000109394" "COL6A1" "0000109395" "COL6A1" "0000109396" "COL6A1" "0000109397" "COL6A1" "0000109398" "COL6A1" "0000109399" "COL6A1" "0000109400" "COL6A1" "0000109401" "COL6A1" "0000109402" "COL6A1" "0000109403" "COL6A1" "0000109404" "COL6A1" "0000109405" "COL6A1" "0000109406" "COL6A1" "0000109407" "COL6A1" "0000109408" "COL6A1" "0000109409" "COL6A1" "0000109410" "COL6A1" "0000109411" "COL6A1" "0000109412" "COL6A1" "0000109413" "COL6A1" "0000109414" "COL6A1" "0000109415" "COL6A1" "0000109416" "COL6A1" "0000109417" "COL6A1" "0000109418" "COL6A1" "0000109419" "COL6A1" "0000109420" "COL6A1" "0000109421" "COL6A1" "0000109422" "COL6A1" "0000109423" "COL6A1" "0000109424" "COL6A1" "0000109425" "COL6A1" "0000109426" "COL6A1" "0000109427" "COL6A1" "0000109428" "COL6A1" "0000109429" "COL6A1" "0000109430" "COL6A1" "0000109431" "COL6A1" "0000109432" "COL6A1" "0000109433" "COL6A1" "0000109434" "COL6A1" "0000109435" "COL6A1" "0000109436" "COL6A1" "0000109437" "COL6A1" "0000109438" "COL6A1" "0000109439" "COL6A1" "0000109440" "COL6A1" "0000109441" "COL6A1" "0000109442" "COL6A1" "0000109443" "COL6A1" "0000109444" "COL6A1" "0000109445" "COL6A1" "0000109446" "COL6A1" "0000109447" "COL6A1" "0000109448" "COL6A1" "0000109449" "COL6A1" "0000109450" "COL6A1" "0000109451" "COL6A1" "0000109452" "COL6A1" "0000109453" "COL6A1" "0000109454" "COL6A1" "0000109455" "COL6A1" "0000109456" "COL6A1" "0000109457" "COL6A1" "0000109458" "COL6A1" "0000109459" "COL6A1" "0000109460" "COL6A1" "0000109461" "COL6A1" "0000109462" "COL6A1" "0000109463" "COL6A1" "0000109464" "COL6A1" "0000109465" "COL6A1" "0000109466" "COL6A1" "0000109467" "COL6A1" "0000109468" "COL6A1" "0000109469" "COL6A1" "0000109470" "COL6A1" "0000109471" "COL6A1" "0000109472" "COL6A1" "0000109473" "COL6A1" "0000109474" "COL6A1" "0000109475" "COL6A1" "0000109476" "COL6A1" "0000109477" "COL6A1" "0000109478" "COL6A1" "0000109658" "COL6A1" "0000109660" "COL6A1" "0000109661" "COL6A1" "0000109662" "COL6A1" "0000109663" "COL6A1" "0000109664" "COL6A1" "0000109665" "COL6A1" "0000109666" "COL6A1" "0000109667" "COL6A1" "0000109668" "COL6A1" "0000109669" "COL6A1" "0000109670" "COL6A1" "0000109671" "COL6A1" "0000109672" "COL6A1" "0000109673" "COL6A1" "0000109674" "COL6A1" "0000109675" "COL6A1" "0000109675" "COL6A2" "0000109676" "COL6A1" "0000109677" "COL6A1" "0000109678" "COL6A1" "0000109679" "COL6A1" "0000109680" "COL6A1" "0000109680" "COL6A3" "0000109681" "COL6A1" "0000109682" "COL6A1" "0000109683" "COL6A1" "0000109684" "COL6A1" "0000109684" "COL6A3" "0000109685" "COL6A1" "0000109686" "COL6A1" "0000109687" "COL6A1" "0000109688" "COL6A1" "0000109689" "COL6A1" "0000109690" "COL6A1" "0000109691" "COL6A1" "0000109692" "COL6A1" "0000109693" "COL6A1" "0000109693" "COL6A3" "0000109694" "COL6A1" "0000109695" "COL6A1" "0000109695" "COL6A2" "0000109696" "COL6A1" "0000109697" "COL6A1" "0000109698" "COL6A1" "0000109699" "COL6A1" "0000109700" "COL6A1" "0000109701" "COL6A1" "0000109701" "COL6A3" "0000109702" "COL6A1" "0000109724" "COL6A1" "0000109725" "COL6A1" "0000109726" "COL6A1" "0000109727" "COL6A1" "0000109732" "COL6A1" "0000109733" "COL6A1" "0000109734" "COL6A1" "0000109734" "COL6A3" "0000109735" "COL6A1" "0000109735" "COL6A3" "0000109736" "COL6A1" "0000109737" "COL6A1" "0000109739" "COL6A1" "0000109740" "COL6A1" "0000109740" "COL6A2" "0000109743" "COL6A1" "0000109744" "COL6A1" "0000109745" "COL6A1" "0000109746" "COL6A1" "0000109747" "COL6A1" "0000109748" "COL6A1" "0000109749" "COL6A1" "0000109750" "COL6A1" "0000109751" "COL6A1" "0000109752" "COL6A1" "0000109753" "COL6A1" "0000109761" "COL6A1" "0000109762" "COL6A1" "0000109763" "COL6A1" "0000109765" "COL6A1" "0000109765" "COL6A2" "0000109766" "COL6A1" "0000109766" "COL6A2" "0000109767" "COL6A1" "0000109772" "COL6A1" "0000109773" "COL6A1" "0000109779" "COL6A1" "0000109779" "COL6A2" "0000109780" "COL6A1" "0000109780" "COL6A2" "0000109787" "COL6A1" "0000109787" "COL6A2" "0000109788" "COL6A1" "0000109788" "COL6A3" "0000109789" "COL6A1" "0000109790" "COL6A1" "0000109791" "COL6A1" "0000109792" "COL6A1" "0000109793" "COL6A1" "0000109794" "COL6A1" "0000109795" "COL6A1" "0000109796" "COL6A1" "0000109797" "COL6A1" "0000109798" "COL6A1" "0000109799" "COL6A1" "0000109800" "COL6A1" "0000109801" "COL6A1" "0000109802" "COL6A1" "0000109803" "COL6A1" "0000109804" "COL6A1" "0000109805" "COL6A1" "0000109806" "COL6A1" "0000109807" "COL6A1" "0000109808" "COL6A1" "0000109809" "COL6A1" "0000109810" "COL6A1" "0000109811" "COL6A1" "0000109812" "COL6A1" "0000109813" "COL6A1" "0000109814" "COL6A1" "0000109815" "COL6A1" "0000109816" "COL6A1" "0000109817" "COL6A1" "0000109818" "COL6A1" "0000109819" "COL6A1" "0000109882" "COL6A1" "0000109883" "COL6A1" "0000109885" "COL6A1" "0000109886" "COL6A1" "0000147276" "COL6A1" "0000210089" "COL6A1" "0000226680" "COL6A1" "0000231678" "COL16A1" "0000266908" "COL6A1" "0000266909" "COL6A1" "0000266910" "COL6A1" "0000266911" "COL6A1" "0000266912" "COL6A1" "0000266913" "COL6A1" "0000266914" "COL6A1" "0000266915" "COL6A1" "0000266916" "COL6A1" "0000266917" "COL6A1" "0000266918" "COL6A1" "0000266919" "COL6A1" "0000266920" "COL6A1" "0000266921" "COL6A1" "0000266922" "COL6A1" "0000266923" "COL6A1" "0000266924" "COL6A1" "0000266925" "COL6A1" "0000266926" "COL6A1" "0000266927" "COL6A1" "0000266928" "COL6A1" "0000266929" "COL6A1" "0000266930" "COL6A1" "0000266931" "COL6A1" "0000266932" "COL6A1" "0000266933" "COL6A1" "0000266934" "COL6A1" "0000266935" "COL6A1" "0000266936" "COL6A1" "0000266937" "COL6A1" "0000266938" "COL6A1" "0000266939" "COL6A1" "0000266940" "COL6A1" "0000266941" "COL6A1" "0000266942" "COL6A1" "0000275453" "COL6A1" "0000275472" "COL6A1" "0000275525" "COL6A1" "0000275526" "COL6A1" "0000275527" "COL6A1" "0000275528" "COL6A1" "0000275529" "COL6A1" "0000275530" "COL6A1" "0000275531" "COL6A1" "0000275532" "COL6A1" "0000275592" "COL6A1" "0000275592" "GNE" "0000289366" "COL6A1" "0000289397" "COL6A1" "0000290149" "TTN" "0000290177" "COL6A1" "0000306897" "COL6A1" "0000306916" "COL6A1" "0000306960" "COL6A1" "0000308327" "COL6A1" "0000308360" "COL6A1" "0000308388" "COL6A1" "0000308389" "COL6A1" "0000315317" "COL6A1" "0000315318" "COL6A1" "0000315319" "COL6A1" "0000315320" "COL6A1" "0000315321" "COL6A1" "0000315322" "COL6A1" "0000315323" "COL6A1" "0000315324" "COL6A1" "0000315325" "COL6A1" "0000315326" "COL6A1" "0000315327" "COL6A1" "0000317207" "SCN4A" "0000364391" "COL6A1" "0000375469" "COL6A1" "0000375470" "COL6A1" "0000375471" "COL6A1" "0000375472" "COL6A1" "0000375473" "COL6A1" "0000375893" "COL6A1" "0000375894" "COL6A1" "0000399014" "COL6A1" "0000399022" "COL6A1" "0000399023" "COL6A1" "0000399024" "COL6A1" "0000399025" "COL6A1" "0000399026" "COL6A1" "0000399027" "COL6A1" "0000399028" "COL6A1" "0000399029" "COL6A1" "0000399030" "COL6A1" "0000399031" "COL6A1" "0000399041" "COL6A2" "0000399042" "COL6A2" "0000399043" "COL6A2" "0000399062" "COL6A1" "0000399063" "COL6A1" "0000399064" "COL6A1" "0000399065" "COL6A1" "0000399066" "COL6A1" "0000399067" "COL6A1" "0000399068" "COL6A1" "0000399069" "COL6A1" "0000399070" "COL6A1" "0000399071" "COL6A1" "0000399072" "COL6A1" "0000399073" "COL6A1" "0000399074" "COL6A1" "0000399075" "COL6A1" "0000399076" "COL6A1" "0000429884" "COL6A1" "0000434690" "COL6A1" "0000455069" "COL6A1" "0000462570" "COL6A1" ## 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 = 1176 "{{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}}" "0000062572" "1" "10" "21" "47404423" "47404423" "subst" "0.0479629" "01164" "COL6A1_000059" "g.47404423G>A" "" "" "" "" "" "Germline" "" "rs71324475" "0" "" "" "g.45984509G>A" "" "benign" "" "0000062573" "1" "10" "21" "47407362" "47407362" "subst" "0" "01164" "COL6A1_000070" "g.47407362C>T" "" "" "" "" "" "Germline" "" "rs62215498" "0" "" "" "g.45987448C>T" "" "benign" "" "0000062574" "1" "10" "21" "47417303" "47417303" "subst" "0.54761" "01164" "COL6A1_000095" "g.47417303T>C" "" "" "" "" "" "Germline" "" "rs2839077" "0" "" "" "g.45997389T>C" "" "benign" "" "0000062575" "1" "10" "21" "47421136" "47421136" "subst" "0.0266196" "01164" "COL6A1_000118" "g.47421136C>T" "" "" "" "" "" "Germline" "" "rs117330552" "0" "" "" "g.46001222C>T" "" "benign" "" "0000062576" "1" "10" "21" "47423509" "47423509" "subst" "0.161847" "01164" "COL6A1_000034" "g.47423509C>T" "" "" "" "" "" "Germline" "" "rs130514" "0" "" "" "g.46003595C>T" "" "benign" "" "0000062577" "1" "50" "21" "47409667" "47409667" "subst" "0" "01164" "COL6A1_000151" "g.47409667G>A" "" "" "" "" "PolyPhen-2:probably damaging" "Germline" "" "" "0" "" "" "g.45989753G>A" "" "VUS" "" "0000062578" "1" "10" "21" "47419603" "47419603" "subst" "0.0165931" "01164" "COL6A1_000110" "g.47419603G>A" "" "" "" "" "" "Germline" "" "rs74852641" "0" "" "" "g.45999689G>A" "" "benign" "" "0000062579" "1" "10" "21" "47417695" "47417695" "subst" "0.101028" "01164" "COL6A1_000103" "g.47417695G>C" "" "" "" "" "" "Germline" "" "rs2276256" "0" "" "" "g.45997781G>C" "" "benign" "" "0000062580" "1" "10" "21" "47404302" "47404302" "subst" "0.042566" "01164" "COL6A1_000001" "g.47404302G>A" "" "" "" "" "" "Germline" "" "rs11553519" "0" "" "" "g.45984388G>A" "" "benign" "" "0000062581" "1" "10" "21" "47421315" "47421315" "subst" "0.526264" "01164" "COL6A1_000121" "g.47421315C>T" "" "" "" "" "" "Germline" "" "rs11701124" "0" "" "" "g.46001401C>T" "" "benign" "" "0000062582" "1" "10" "21" "47420912" "47420912" "subst" "0" "01164" "COL6A1_000187" "g.47420912G>A" "" "" "" "" "" "Germline" "" "rs11700421" "0" "" "" "g.46000998G>A" "" "benign" "" "0000062583" "1" "10" "21" "47420866" "47420866" "subst" "0" "01164" "COL6A1_000186" "g.47420866C>T" "" "" "" "" "" "Germline" "" "rs7276374" "0" "" "" "g.46000952C>T" "" "benign" "" "0000062584" "1" "10" "21" "47420769" "47420769" "subst" "0" "01164" "COL6A1_000117" "g.47420769A>G" "" "" "" "" "" "Germline" "" "rs7276782" "0" "" "" "g.46000855A>G" "" "benign" "" "0000062585" "1" "10" "21" "47420761" "47420761" "subst" "0" "01164" "COL6A1_000116" "g.47420761G>A" "" "" "" "" "" "Germline" "" "rs7283989" "0" "" "" "g.46000847G>A" "" "benign" "" "0000062586" "1" "10" "21" "47422639" "47422639" "subst" "0.858176" "01164" "COL6A1_000133" "g.47422639A>G" "" "" "" "" "" "Germline" "" "rs2236485" "0" "" "" "g.46002725A>G" "" "benign" "" "0000062587" "1" "10" "21" "47419520" "47419520" "subst" "0" "01164" "COL6A1_000185" "g.47419520G>A" "" "" "" "" "" "Germline" "" "rs75434097" "0" "" "" "g.45999606G>A" "" "benign" "" "0000062588" "1" "10" "21" "47422644" "47422644" "subst" "0.381575" "01164" "COL6A1_000134" "g.47422644G>A" "" "" "" "" "" "Germline" "" "rs2236486" "0" "" "" "g.46002730G>A" "" "benign" "" "0000062589" "1" "10" "21" "47417438" "47417438" "dup" "0" "01164" "COL6A1_000098" "g.47417438dup" "" "" "" "" "" "Germline" "" "rs112235964" "0" "" "" "g.45997524dup" "" "benign" "" "0000062590" "1" "10" "21" "47417415" "47417415" "subst" "0.59731" "01164" "COL6A1_000097" "g.47417415C>A" "" "" "" "" "" "Germline" "" "rs2276254" "0" "" "" "g.45997501C>A" "" "benign" "" "0000062591" "1" "10" "21" "47412751" "47412751" "subst" "0.861111" "01164" "COL6A1_000092" "g.47412751A>C" "" "" "" "" "" "Germline" "" "rs2850173" "0" "" "" "g.45992837A>C" "" "benign" "" "0000062592" "1" "10" "21" "47409503" "47409503" "subst" "0.858487" "01164" "COL6A1_000073" "g.47409503A>G" "" "" "" "" "" "Germline" "" "rs2277814" "0" "" "" "g.45989589A>G" "" "benign" "" "0000062593" "1" "10" "21" "47409113" "47409113" "subst" "0" "01164" "COL6A1_000194" "g.47409113C>T" "" "" "" "" "" "Germline" "" "rs8129814" "0" "" "" "g.45989199C>T" "" "benign" "" "0000062594" "1" "10" "21" "47406612" "47406612" "subst" "0.752108" "01164" "COL6A1_000064" "g.47406612C>A" "" "" "" "" "" "Germline" "" "rs754507" "0" "" "" "g.45986698C>A" "" "benign" "" "0000062595" "1" "10" "21" "47404397" "47404397" "subst" "0.860059" "01164" "COL6A1_000057" "g.47404397A>G" "" "" "" "" "" "Germline" "" "rs3746993" "0" "" "" "g.45984483A>G" "" "benign" "" "0000062596" "1" "10" "21" "47420726" "47420726" "subst" "0.854056" "01164" "COL6A1_000114" "g.47420726C>G" "" "" "" "" "" "Germline" "" "rs7276098" "0" "" "" "g.46000812C>G" "" "benign" "" "0000062597" "1" "10" "21" "47417975" "47417975" "subst" "0" "01164" "COL6A1_000104" "g.47417975A>G" "" "" "" "" "" "Germline" "" "rs3737437" "0" "" "" "g.45998061A>G" "" "benign" "" "0000062598" "1" "10" "21" "47422412" "47422412" "subst" "0.567747" "01164" "COL6A1_000130" "g.47422412C>T" "" "" "" "" "" "Germline" "" "rs35796750" "0" "" "" "g.46002498C>T" "" "benign" "" "0000062599" "1" "50" "21" "47418731" "47418731" "dup" "0" "01164" "COL6A1_000193" "g.47418731dup" "" "" "" "" "" "Germline" "" "rs33958094" "0" "" "" "g.45998817dup" "" "VUS" "" "0000062600" "1" "10" "21" "47410626" "47410626" "subst" "0" "01164" "COL6A1_000195" "g.47410626T>G" "" "" "" "" "" "Germline" "" "rs1980981" "0" "" "" "g.45990712T>G" "" "benign" "" "0000062601" "1" "10" "21" "47425001" "47425001" "subst" "0" "01164" "COL6A1_000192" "g.47425001G>A" "" "" "" "" "" "Germline" "" "rs112945871" "0" "" "" "g.46005087G>A" "" "benign" "" "0000062602" "1" "10" "21" "47423233" "47423233" "subst" "0" "01164" "COL6A1_000191" "g.47423233C>T" "" "" "" "" "" "Germline" "" "rs59769541" "0" "" "" "g.46003319C>T" "" "benign" "" "0000062603" "1" "10" "21" "47423133" "47423133" "subst" "0" "01164" "COL6A1_000190" "g.47423133C>G" "" "" "" "" "" "Germline" "" "rs2236489" "0" "" "" "g.46003219C>G" "" "benign" "" "0000062604" "1" "10" "21" "47422712" "47422712" "subst" "0" "01164" "COL6A1_000189" "g.47422712C>T" "" "" "" "" "" "Germline" "" "rs2236488" "0" "" "" "g.46002798C>T" "" "benign" "" "0000062605" "1" "10" "21" "47422679" "47422679" "subst" "0" "01164" "COL6A1_000135" "g.47422679G>A" "" "" "" "" "" "Germline" "" "rs2236487" "0" "" "" "g.46002765G>A" "" "benign" "" "0000062606" "1" "10" "21" "47421864" "47421864" "subst" "0.363851" "01164" "COL6A1_000122" "g.47421864C>T" "" "" "" "" "" "Germline" "" "rs8132521" "0" "" "" "g.46001950C>T" "" "benign" "" "0000084595" "1" "90" "21" "47409540" "47409540" "subst" "0" "01458" "COL6A1_000053" "g.47409540G>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000084596" "1" "90" "21" "47409550" "47409550" "subst" "0" "01458" "COL6A1_000152" "g.47409550G>T" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.45989636G>T" "" "pathogenic" "" "0000084600" "3" "90" "21" "47418859" "47418859" "del" "0" "01458" "COL6A1_000182" "g.47418859del" "" "{PMID:O\'Grady 2016:27159402}" "" "1660delG" "" "Germline" "yes" "" "0" "" "" "g.45998945del" "" "pathogenic" "" "0000084603" "3" "90" "21" "47418859" "47418859" "del" "0" "01458" "COL6A1_000182" "g.47418859del" "" "{PMID:O\'Grady 2016:27159402}" "" "1660delG" "" "Germline" "yes" "" "0" "" "" "g.45998945del" "" "pathogenic" "" "0000084604" "0" "90" "21" "47407557" "47407577" "del" "0" "01458" "COL6A1_000183" "g.47407557_47407577del" "" "{PMID:O\'Grady 2016:27159402}" "" "793_804+9del21" "" "De novo" "" "" "0" "" "" "g.45987643_45987663del" "" "likely pathogenic" "" "0000084606" "1" "90" "21" "47409035" "47409035" "subst" "0" "01458" "COL6A1_000048" "g.47409035G>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.45989121G>A" "" "pathogenic" "" "0000084607" "1" "90" "21" "47409531" "47409531" "subst" "0" "01458" "COL6A1_000018" "g.47409531G>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000084608" "1" "90" "21" "47409531" "47409531" "subst" "0" "01458" "COL6A1_000018" "g.47409531G>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175265" "1" "50" "21" "47406990" "47406990" "subst" "0" "01955" "COL6A1_000172" "g.47406990A>G" "" "MYO-SEQ project, UK" "" "" "The variant is rare- one case in Exac. Found with another essential splice site mutation which is predicted damaging." "Germline" "?" "" "0" "" "" "g.45987076A>G" "" "VUS" "" "0000175266" "0" "70" "21" "47409667" "47409667" "subst" "0" "01955" "COL6A1_000151" "g.47409667G>A" "" "MYO-SEQ project, UK" "" "" "The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is not present in EXAC or other control populations. Phenotype consistent with COLVI myopathy." "Germline" "?" "" "0" "" "" "g.45989753G>A" "" "likely pathogenic" "" "0000175267" "0" "70" "21" "47421199" "47421199" "subst" "8.18746E-6" "01955" "COL6A1_000199" "g.47421199G>T" "" "MYO-SEQ project, UK" "" "" "The variant is predicted damaging in mutation taster and FATHMM, possibly damaging in Polyphen. It is not present in EXAC." "Germline" "?" "" "0" "" "" "g.46001285G>T" "" "likely pathogenic" "" "0000175268" "0" "70" "21" "47409008" "47409008" "subst" "0" "01955" "COL6A1_000025" "g.47409008G>A" "" "MYO-SEQ project, UK" "" "" "The variant is predicted disease causing in Polyphen, mutation taster and FATTHM. Not present in EXAC or other control populations. Phenotype consistent with COLVI myopathy." "Germline" "?" "" "0" "" "" "g.45989094G>A" "" "likely pathogenic" "" "0000175269" "0" "70" "21" "47409559" "47409559" "subst" "0" "01955" "COL6A1_000198" "g.47409559G>A" "" "MYO-SEQ project, UK" "" "" "The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is not present in EXAC or other control populations. Known mutation, reported as likely pathogenic in ClinVar." "Germline" "" "" "0" "" "" "g.45989645G>A" "" "likely pathogenic" "" "0000175270" "0" "70" "21" "47409043" "47409043" "subst" "0" "01955" "COL6A1_000007" "g.47409043G>A" "" "MYO-SEQ project, UK" "" "" "The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is not present in EXAC. Known mutation, reported as pathogenic in ClinVar." "Germline" "" "" "0" "" "" "g.45989129G>A" "" "likely pathogenic" "" "0000175271" "0" "70" "21" "47410741" "47410741" "subst" "0" "01955" "COL6A1_000015" "g.47410741G>A" "" "MYO-SEQ project, UK" "" "" "Essential splice site mutation predicted damaging in mutation taster and reported pathogenic in ClinVar. Not present in EXAC or other control populations." "De novo" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic" "" "0000175272" "0" "70" "21" "47409549" "47409549" "subst" "0" "01955" "COL6A1_000200" "g.47409549G>C" "" "MYO-SEQ project, UK" "" "" "The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is not present in EXAC." "Germline" "?" "" "0" "" "" "g.45989635G>C" "" "likely pathogenic" "" "0000175273" "0" "70" "21" "47409555" "47409555" "subst" "0" "01955" "COL6A1_000197" "g.47409555C>A" "" "MYO-SEQ project, UK" "" "" "Affected father and brother also carry this variant" "Germline" "yes" "" "0" "" "" "g.45989641C>A" "" "likely pathogenic" "" "0000175274" "2" "70" "21" "47423032" "47423032" "subst" "0" "01955" "COL6A1_000196" "g.47423032A>G" "" "MYO-SEQ project, UK" "" "" "The variant is predicted disease causing in mutation taster. Not present in exac or other control populations." "Germline" "?" "" "0" "" "" "g.46003118A>G" "" "likely pathogenic" "" "0000175315" "1" "90" "21" "47410684" "47410684" "subst" "0" "00006" "COL6A1_000012" "g.47410684C>A" "1/78" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990770C>A" "" "pathogenic" "" "0000175316" "1" "90" "21" "47410706" "47410706" "subst" "0" "00006" "COL6A1_000013" "g.47410706G>A" "" "{PMID:Scacheri 2002:11865138}, {OMIM120220:0004}" "BglI" "1070G>A" "0/190 control chromosomes; protein domain TH" "Germline" "" "" "0" "" "" "g.45990792G>A" "" "pathogenic" "" "0000175317" "1" "90" "21" "47410706" "47410706" "subst" "0" "00006" "COL6A1_000014" "g.47410706G>T" "1/78" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175318" "1" "90" "21" "47410706" "47410706" "subst" "0" "00449" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175319" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175320" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:LamandÈ 1999:10419498}, {OMIM120220:0006}" "" "IVS14+1G>A" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175321" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Pan 2003:12840783}, {OMIM120220:0006}" "" "" "protein domain TH; de novo, in patient" "De novo" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175322" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175323" "1" "90" "21" "47410742" "47410742" "subst" "0" "00006" "COL6A1_000016" "g.47410742T>C" "" "{PMID:Pepe 1999:10329467}, {OMIM120220:0003}" "HgaI" "IVS14+2T>C" "0/100 control chromosomes; protein domain TH; COL6A1 synthesized, not secreted" "Germline" "" "" "0" "" "" "g.45990828T>C" "" "pathogenic" "" "0000175324" "11" "90" "21" "47417617" "47417617" "del" "0" "00449" "COL6A1_000020" "g.47417617del" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0010}" "" "1456delG" "protein domain TH" "Germline" "" "" "0" "" "" "g.45997703del" "" "pathogenic" "" "0000175325" "1" "50" "21" "47419104" "47419104" "subst" "0.000110235" "00006" "COL6A1_000017" "g.47419104A>C" "1/78" "{PMID:Lampe 2005:15689448}" "" "" "no confirmatory data; protein domain TH" "Germline" "" "" "0" "" "" "g.45999190A>C" "" "VUS" "" "0000175326" "1" "90" "21" "47419607" "47419607" "subst" "0" "00006" "COL6A1_000018" "g.47419607G>A" "1/76" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45999693G>A" "" "pathogenic" "" "0000175328" "1" "70" "21" "47404302" "47404302" "subst" "0.042566" "00006" "COL6A1_000001" "g.47404302G>A" "3/54 cases" "{PMID:Lampe 2005:15689448}" "" "" "no confirmatory data; protein domain N1" "Germline" "" "" "0" "" "" "g.45984388G>A" "" "likely pathogenic" "" "0000175329" "1" "90" "21" "47404317" "47404317" "subst" "0" "00006" "COL6A1_000002" "g.47404317A>G" "" "{PMID:Scacheri 2002:11865138}, {OMIM120220:0005}" "" "" "0/190 control chromosomes; protein domain N1" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000175330" "1" "90" "21" "47404384" "47404384" "subst" "0" "00006" "COL6A1_000003" "g.47404384G>A" "" "{PMID:Vanegas 2002:11932968}, {OMIM120220:0008}" "HphI" "IVS3+1G>A" "0/100 control chromosomes; protein domain N1" "Germline" "" "" "0" "" "" "g.45984470G>A" "" "pathogenic" "" "0000175331" "1" "90" "21" "47404384" "47404384" "subst" "0" "00449" "COL6A1_000003" "g.47404384G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain N1" "Germline" "" "" "0" "" "" "g.45984470G>A" "" "pathogenic" "" "0000175332" "1" "90" "21" "47407412" "47407412" "subst" "0" "00449" "COL6A1_000023" "g.47407412G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "0/200 control chromosomes; protein domain N1/TH" "Germline" "" "" "0" "" "" "g.45987498G>A" "" "pathogenic" "" "0000175333" "1" "90" "21" "47407411" "47407411" "subst" "0" "00449" "COL6A1_000022" "g.47407411A>G" "" "{PMID:Lucioli 2005:15955946}" "Dsa I" "" "protein domain N1/TH" "Germline" "" "" "0" "" "" "g.45987497A>G" "" "pathogenic" "" "0000175334" "1" "90" "21" "47407817" "47410307" "delins" "0" "00449" "COL6A1_000026" "g.47407817_47410307delinsCAGGCT" "" "{PMID:Pepe 2005:16278855}" "" "" "2490 bp deletion exons 9-13; protein domain TH; de novo, in patient" "De novo" "" "" "0" "" "" "g.45987903_45990393delinsCAGGCT" "" "pathogenic" "" "0000175335" "1" "90" "21" "47408359" "47410671" "del" "0" "00449" "COL6A1_000027" "g.47408359_47410671del" "" "{PMID:Pepe 2005:16278855}" "" "804+791_1003-16del" "2313 bp deletion exons 9-14; protein domain TH" "Germline" "" "" "0" "" "" "g.45988445_45990757del" "" "pathogenic" "" "0000175336" "1" "90" "21" "47408426" "47409573" "del" "0" "00006" "COL6A1_000004" "g.47408426_47409573del" "" "{PMID:Pan 2003:12840783}, {OMIM120220:0007}" "" "804+857_903+6del" "1.1 Kb deletion, protein domain TH; de novo, in patient" "De novo" "" "" "0" "" "" "g.45988512_45989659del" "" "pathogenic" "" "0000175337" "1" "90" "21" "47409008" "47409008" "subst" "0" "00449" "COL6A1_000025" "g.47409008G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989094G>A" "" "pathogenic" "" "0000175338" "1" "50" "21" "47409014" "47409014" "subst" "2.45118E-5" "00006" "COL6A1_000005" "g.47409014C>T" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989100C>T" "" "VUS" "" "0000175339" "1" "90" "21" "47409016" "47409016" "subst" "0" "00449" "COL6A1_000024" "g.47409016G>A" "" "{PMID:Lucioli 2005:15955946}" "Msp I" "" "0/200 control chromosomes; protein domain TH" "Germline" "" "" "0" "" "" "g.45989102G>A" "" "pathogenic" "" "0000175340" "1" "50" "21" "47409034" "47409034" "subst" "0" "00006" "COL6A1_000006" "g.47409034G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989120G>A" "" "VUS" "" "0000175341" "1" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "2/77" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175342" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "00449" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Giusti 2005:16130093}" "" "G2667A" "" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000175344" "1" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175345" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "00449" "COL6A1_000001" "g.47404302G>A" "" "{PMID:Giusti 2005:16130093}" "" "G347A" "" "Germline" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000175346" "1" "90" "21" "47409531" "47409531" "subst" "0" "00449" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175347" "1" "90" "21" "47409676" "47409676" "subst" "0" "00006" "COL6A1_000009" "g.47409676G>T" "" "{PMID:Jobsis 1996:08782832}, {OMIM120220:0001}" "NlaIV" "962G>T" "0/100 control chromosomes; protein domain TH" "Germline" "" "" "0" "" "" "g.45989762G>T" "" "pathogenic" "" "0000175348" "1" "90" "21" "47410171" "47410171" "subst" "0" "00006" "COL6A1_000010" "g.47410171G>A" "" "{PMID:LamandÈ 1998:09580662}, {OMIM120220:0002}" "" "IVS11-1G>A" "mRNA 50% reduced; RNA cycloheximide; protein domain TH" "Germline" "" "" "0" "" "" "g.45990257G>A" "" "pathogenic" "" "0000175349" "1" "90" "21" "47410199" "47410199" "subst" "0" "00006" "COL6A1_000011" "g.47410199G>A" "" "{PMID:Baker 2005:15563506}" "" "" "protein domain TH; de novo, in patient" "De novo" "" "" "0" "" "" "g.45990285G>A" "" "pathogenic" "" "0000175355" "1" "50" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "VUS" "" "0000175365" "1" "50" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "VUS" "" "0000175376" "1" "50" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "VUS" "" "0000175393" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000175394" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000175395" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000175396" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000175397" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000175398" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00006" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000175399" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000175400" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000175401" "1" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Kawahara:17785674}, {OMIM120220:0012}" "Msp I" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175402" "1" "90" "21" "47409690" "47409692" "del" "0" "00006" "COL6A1_000029" "g.47409690_47409692del" "" "{PMID:Baker 2007:17886299}" "" "" "" "Germline" "" "" "0" "" "" "g.45989776_45989778del" "" "pathogenic" "" "0000175403" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175404" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175405" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175406" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175407" "1" "90" "21" "47410741" "47410741" "subst" "0" "00449" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lucioli 2005:15955946}, {OMIM120220:0006}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175408" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Baker 2007:17886299}, {OMIM120220:0006}" "" "IVS14+1G-A" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175409" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Baker 2007:17886299}, {OMIM120220:0006}" "" "IVS14+1G-A" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175414" "1" "90" "21" "47404384" "47404384" "subst" "0" "00449" "COL6A1_000003" "g.47404384G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain N1" "Germline" "" "" "0" "" "" "g.45984470G>A" "" "pathogenic" "" "0000175415" "1" "90" "21" "47404384" "47404384" "subst" "0" "00449" "COL6A1_000003" "g.47404384G>A" "" "{PMID:Lucioli 2005:15955946}" "" "" "protein domain N1" "Germline" "" "" "0" "" "" "g.45984470G>A" "" "pathogenic" "" "0000175416" "1" "90" "21" "47407411" "47407411" "subst" "0" "00449" "COL6A1_000022" "g.47407411A>G" "" "{PMID:Lucioli 2005:15955946}" "Dsa I" "" "protein domain N1/TH" "Germline" "" "" "0" "" "" "g.45987497A>G" "" "pathogenic" "" "0000175417" "1" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Lampe 2005:15689448}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175419" "0" "90" "21" "47409034" "47409034" "subst" "0" "00464" "COL6A1_000006" "g.47409034G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175423" "0" "70" "21" "47410741" "47410741" "del" "0" "00464" "COL6A1_000035" "g.47410741del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827del" "" "likely pathogenic" "" "0000175424" "0" "70" "21" "47409694" "47409694" "subst" "0" "00464" "COL6A1_000037" "g.47409694T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45989780T>G" "" "likely pathogenic" "" "0000175425" "0" "70" "21" "47410741" "47410741" "del" "0" "00464" "COL6A1_000035" "g.47410741del" "" "" "" "" "mildly reduced staining of type VI collagen" "Germline" "" "" "0" "" "" "g.45990827del" "" "likely pathogenic" "" "0000175428" "0" "70" "21" "47412079" "47412079" "subst" "0" "00464" "COL6A1_000038" "g.47412079G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45992165G>T" "" "likely pathogenic" "" "0000175430" "0" "90" "21" "47409043" "47409043" "subst" "0" "00464" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "muscle biopsy: myophagocytosis, incr. endomysial connective tissue" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175431" "0" "70" "21" "47409532" "47409532" "subst" "0" "00464" "COL6A1_000039" "g.47409532G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989618G>A" "" "likely pathogenic" "" "0000175435" "11" "30" "21" "47421159" "47421159" "subst" "0.0101137" "00464" "COL6A1_000040" "g.47421159G>A" "" "" "" "" "found in healthy parent" "Germline" "" "" "0" "" "" "g.46001245G>A" "" "likely benign" "" "0000175436" "0" "90" "21" "47410741" "47410741" "subst" "0" "00464" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175437" "0" "90" "21" "47409043" "47409043" "subst" "0" "00464" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175440" "1" "70" "21" "47409523" "47409523" "subst" "0" "00464" "COL6A1_000041" "g.47409523G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989609G>A" "" "likely pathogenic" "" "0000175441" "0" "90" "21" "47410199" "47410199" "subst" "0" "00464" "COL6A1_000011" "g.47410199G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990285G>A" "" "pathogenic" "" "0000175442" "0" "90" "21" "47410741" "47410741" "subst" "0" "00464" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175443" "0" "70" "21" "47409520" "47409520" "subst" "0" "00464" "COL6A1_000042" "g.47409520A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989606A>C" "" "likely pathogenic" "" "0000175444" "0" "90" "21" "47409531" "47409531" "subst" "0" "00464" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175448" "1" "50" "21" "47422614" "47422614" "subst" "0.0185197" "00006" "COL6A1_000044" "g.47422614G>T" "" "CA Valencia ASHG 2010 A1982" "" "" "" "Germline" "" "" "0" "" "" "g.46002700G>T" "" "VUS" "" "0000175449" "0" "50" "21" "47414064" "47414064" "subst" "0.00113676" "00464" "COL6A1_000045" "g.47414064G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45994150G>A" "" "VUS" "" "0000175451" "0" "70" "21" "47409521" "47409521" "subst" "0" "00464" "COL6A1_000046" "g.47409521G>C" "" "" "" "" "mild/moderate reduction in muscle fiber basement membrane collagen VI" "Germline" "" "" "0" "" "" "g.45989607G>C" "" "likely pathogenic" "" "0000175454" "0" "70" "21" "47408998" "47408998" "subst" "0" "00464" "COL6A1_000047" "g.47408998G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989084G>A" "" "likely pathogenic" "" "0000175455" "0" "90" "21" "47409035" "47409035" "subst" "0" "00464" "COL6A1_000048" "g.47409035G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989121G>A" "" "pathogenic" "" "0000175458" "0" "70" "21" "47408996" "47408996" "subst" "0" "00464" "COL6A1_000050" "g.47408996A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989082A>G" "" "likely pathogenic" "" "0000175459" "0" "90" "21" "47409531" "47409531" "subst" "0" "00464" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175463" "0" "90" "21" "47410741" "47410741" "subst" "0" "00464" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175468" "0" "90" "21" "47409043" "47409043" "subst" "0" "00464" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175469" "0" "70" "21" "47418339" "47418339" "subst" "4.06755E-6" "00464" "COL6A1_000051" "g.47418339G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45998425G>A" "" "likely pathogenic" "" "0000175473" "0" "70" "21" "47407552" "47407552" "subst" "0" "00464" "COL6A1_000052" "g.47407552G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45987638G>A" "" "likely pathogenic" "" "0000175476" "0" "70" "21" "47409540" "47409540" "subst" "0" "00464" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "fibrosis seen in muscle biopsy" "Germline" "" "" "0" "" "" "g.45989626G>A" "" "likely pathogenic" "" "0000175477" "0" "90" "21" "47409034" "47409034" "subst" "0" "00464" "COL6A1_000006" "g.47409034G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175479" "0" "10" "21" "47401760" "47401760" "subst" "0.554805" "00430" "COL6A1_000054" "g.47401760C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45981846C>G" "" "benign" "" "0000175480" "0" "50" "21" "47402555" "47402555" "subst" "0.00123775" "00430" "COL6A1_000055" "g.47402555C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45982641C>G" "" "VUS" "" "0000175481" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "00430" "COL6A1_000001" "g.47404302G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000175482" "0" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000175483" "0" "90" "21" "47404317" "47404317" "subst" "0" "00430" "COL6A1_000002" "g.47404317A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000175484" "0" "10" "21" "47404397" "47404397" "subst" "0.860059" "00430" "COL6A1_000057" "g.47404397A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984483A>G" "" "benign" "" "0000175485" "0" "10" "21" "47404422" "47404422" "subst" "0.0105069" "00430" "COL6A1_000058" "g.47404422C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984508C>G" "" "benign" "" "0000175486" "0" "10" "21" "47404423" "47404423" "subst" "0.0479629" "00430" "COL6A1_000059" "g.47404423G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45984509G>A" "" "benign" "" "0000175487" "0" "10" "21" "47406421" "47406421" "subst" "0.182037" "00430" "COL6A1_000060" "g.47406421G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986507G>A" "" "benign" "" "0000175488" "0" "50" "21" "47406560" "47406560" "subst" "0" "00430" "COL6A1_000061" "g.47406560C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986646C>T" "" "VUS" "" "0000175489" "0" "50" "21" "47406607" "47406607" "subst" "0.000216197" "00430" "COL6A1_000062" "g.47406607C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986693C>G" "" "VUS" "" "0000175490" "0" "50" "21" "47406611" "47406612" "ins" "0" "00430" "COL6A1_000063" "g.47406611_47406612insA" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986697_45986698insA" "" "VUS" "" "0000175491" "0" "10" "21" "47406612" "47406612" "subst" "0.752108" "00430" "COL6A1_000064" "g.47406612C>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986698C>A" "" "benign" "" "0000175492" "0" "10" "21" "47406618" "47406618" "dup" "0" "00430" "COL6A1_000065" "g.47406618dup" "" "" "" "588+19dupC" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986704dup" "" "benign" "" "0000175493" "0" "10" "21" "47406636" "47406636" "subst" "0.0277131" "00430" "COL6A1_000066" "g.47406636A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45986722A>G" "" "benign" "" "0000175494" "0" "10" "21" "47406914" "47406914" "subst" "0.00239536" "00430" "COL6A1_000067" "g.47406914G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45987000G>A" "" "benign" "" "0000175495" "0" "10" "21" "47407018" "47407018" "subst" "0.00252142" "00430" "COL6A1_000068" "g.47407018C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45987104C>T" "" "benign" "" "0000175496" "0" "50" "21" "47407103" "47407103" "subst" "0.000299135" "00430" "COL6A1_000069" "g.47407103C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45987189C>T" "" "VUS" "" "0000175497" "0" "10" "21" "47407362" "47407362" "subst" "0" "00430" "COL6A1_000070" "g.47407362C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45987448C>T" "" "benign" "" "0000175498" "0" "90" "21" "47408996" "47408996" "subst" "0" "00430" "COL6A1_000050" "g.47408996A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989082A>G" "" "pathogenic" "" "0000175499" "0" "70" "21" "47409035" "47409035" "subst" "0" "00430" "COL6A1_000048" "g.47409035G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989121G>A" "" "likely pathogenic" "" "0000175500" "0" "90" "21" "47409043" "47409043" "subst" "0" "00430" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175501" "0" "50" "21" "47409500" "47409500" "subst" "0" "00430" "COL6A1_000071" "g.47409500A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989586A>G" "" "VUS" "" "0000175502" "0" "10" "21" "47409502" "47409502" "subst" "0.002847" "00430" "COL6A1_000072" "g.47409502C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989588C>T" "" "benign" "" "0000175503" "0" "10" "21" "47409503" "47409503" "subst" "0.858487" "00430" "COL6A1_000073" "g.47409503A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989589A>G" "" "benign" "" "0000175504" "0" "50" "21" "47409504" "47409504" "subst" "0" "00430" "COL6A1_000074" "g.47409504T>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989590T>A" "" "VUS" "" "0000175505" "0" "90" "21" "47409531" "47409531" "subst" "0" "00430" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175506" "0" "10" "21" "47409580" "47409580" "subst" "0.183484" "00430" "COL6A1_000075" "g.47409580C>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45989666C>A" "" "benign" "" "0000175507" "0" "10" "21" "47410275" "47410275" "subst" "0.00279671" "00430" "COL6A1_000076" "g.47410275G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990361G>A" "" "benign" "" "0000175508" "0" "10" "21" "47410373" "47410373" "subst" "0.00983395" "00430" "COL6A1_000077" "g.47410373A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990459A>G" "" "benign" "" "0000175509" "0" "10" "21" "47410378" "47410379" "" "0" "00430" "COL6A1_000078" "g.47410378_47410379insN[45]" "" "" "" "1002+42_1002+43ins45" "from website {DBsub-Emory}, description variant incomplete\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 34: Syntax error). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000175510" "0" "10" "21" "47410379" "47410379" "subst" "0" "00430" "COL6A1_000079" "g.47410379A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990465A>G" "" "benign" "" "0000175511" "0" "10" "21" "47410379" "47410388" "del" "0.243898" "00430" "COL6A1_000080" "g.47410379_47410388del" "" "" "" "1002+43_1002+52delAATGGGGCGA" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990465_45990474del" "" "benign" "" "0000175512" "0" "10" "21" "47410380" "47410418" "del" "0" "00430" "COL6A1_000081" "g.47410380_47410418del" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990466_45990504del" "" "benign" "" "0000175513" "0" "10" "21" "47410381" "47410381" "subst" "0" "00430" "COL6A1_000082" "g.47410381T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990467T>C" "" "benign" "" "0000175514" "0" "10" "21" "47410386" "47410386" "subst" "0.0197399" "00430" "COL6A1_000083" "g.47410386C>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990472C>A" "" "benign" "" "0000175515" "0" "10" "21" "47410386" "47410386" "subst" "0.00321364" "00430" "COL6A1_000084" "g.47410386C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990472C>T" "" "benign" "" "0000175516" "0" "50" "21" "47410708" "47410716" "del" "0" "00430" "COL6A1_000085" "g.47410708_47410716del" "" "" "" "1024_1032delCTGCCAGGC" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990794_45990802del" "" "VUS" "" "0000175517" "0" "10" "21" "47410740" "47410740" "subst" "0.00121926" "00430" "COL6A1_000086" "g.47410740C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45990826C>T" "" "benign" "" "0000175518" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "00430" "COL6A1_000030" "g.47410931T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000175519" "0" "10" "21" "47410994" "47410994" "subst" "0.0180391" "00430" "COL6A1_000087" "g.47410994C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45991080C>T" "" "benign" "" "0000175520" "0" "10" "21" "47411912" "47411912" "subst" "0.0036649" "00430" "COL6A1_000088" "g.47411912G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45991998G>A" "" "benign" "" "0000175521" "0" "10" "21" "47412654" "47412654" "subst" "0.00579738" "00430" "COL6A1_000089" "g.47412654C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45992740C>T" "" "benign" "" "0000175522" "0" "10" "21" "47412703" "47412703" "subst" "0.00513899" "00430" "COL6A1_000090" "g.47412703G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45992789G>A" "" "benign" "" "0000175523" "0" "10" "21" "47412705" "47412705" "subst" "0.0016242" "00430" "COL6A1_000091" "g.47412705G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45992791G>A" "" "benign" "" "0000175524" "0" "10" "21" "47412751" "47412751" "subst" "0.861111" "00430" "COL6A1_000092" "g.47412751A>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45992837A>C" "" "benign" "" "0000175525" "0" "50" "21" "47414095" "47414095" "subst" "0.000414773" "00430" "COL6A1_000093" "g.47414095G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45994181G>A" "" "VUS" "" "0000175526" "0" "50" "21" "47414153" "47414153" "subst" "0.000116933" "00430" "COL6A1_000094" "g.47414153G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45994239G>A" "" "VUS" "" "0000175527" "0" "10" "21" "47417303" "47417303" "subst" "0.54761" "00430" "COL6A1_000095" "g.47417303T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997389T>C" "" "benign" "" "0000175528" "0" "10" "21" "47417379" "47417379" "subst" "0.00323863" "00430" "COL6A1_000096" "g.47417379G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997465G>A" "" "benign" "" "0000175529" "0" "10" "21" "47417415" "47417415" "subst" "0.59731" "00430" "COL6A1_000097" "g.47417415C>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997501C>A" "" "benign" "" "0000175530" "0" "10" "21" "47417438" "47417438" "dup" "0" "00430" "COL6A1_000098" "g.47417438dup" "" "" "" "1461+41dupG" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997524dup" "" "benign" "" "0000175531" "0" "10" "21" "47417578" "47417578" "subst" "0.287287" "00430" "COL6A1_000099" "g.47417578A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997664A>G" "" "benign" "" "0000175532" "0" "50" "21" "47417657" "47417657" "subst" "1.88635E-5" "00430" "COL6A1_000100" "g.47417657C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997743C>T" "" "VUS" "" "0000175533" "0" "10" "21" "47417670" "47417670" "subst" "0.000740207" "00430" "COL6A1_000101" "g.47417670T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997756T>C" "" "benign" "" "0000175534" "0" "10" "21" "47417691" "47417691" "subst" "0.00497188" "00430" "COL6A1_000102" "g.47417691G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997777G>A" "" "benign" "" "0000175535" "0" "10" "21" "47417695" "47417695" "subst" "0.101028" "00430" "COL6A1_000103" "g.47417695G>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45997781G>C" "" "benign" "" "0000175536" "0" "10" "21" "47417975" "47417975" "subst" "0" "00430" "COL6A1_000104" "g.47417975A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45998061A>G" "" "benign" "" "0000175537" "0" "10" "21" "47418801" "47418801" "subst" "0.00154473" "00430" "COL6A1_000105" "g.47418801G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45998887G>A" "" "benign" "" "0000175538" "0" "10" "21" "47418805" "47418805" "subst" "0.000580349" "00430" "COL6A1_000106" "g.47418805C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45998891C>T" "" "benign" "" "0000175539" "0" "50" "21" "47418864" "47418864" "subst" "7.8767E-5" "00430" "COL6A1_000107" "g.47418864C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45998950C>T" "" "VUS" "" "0000175540" "0" "10" "21" "47419012" "47419012" "subst" "0" "00430" "COL6A1_000108" "g.47419012C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45999098C>T" "" "benign" "" "0000175541" "0" "10" "21" "47419182" "47419182" "subst" "0.0198185" "00430" "COL6A1_000109" "g.47419182C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45999268C>T" "" "benign" "" "0000175542" "0" "10" "21" "47419603" "47419603" "subst" "0.0165931" "00430" "COL6A1_000110" "g.47419603G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.45999689G>A" "" "benign" "" "0000175543" "0" "10" "21" "47420306" "47420306" "subst" "0.0111029" "00430" "COL6A1_000111" "g.47420306T>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000392T>G" "" "benign" "" "0000175544" "0" "10" "21" "47420667" "47420667" "subst" "0.0101568" "00430" "COL6A1_000112" "g.47420667C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000753C>G" "" "benign" "" "0000175545" "0" "10" "21" "47420723" "47420723" "subst" "0.281217" "00430" "COL6A1_000113" "g.47420723G>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000809G>C" "" "benign" "" "0000175546" "0" "10" "21" "47420726" "47420726" "subst" "0.854056" "00430" "COL6A1_000114" "g.47420726C>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000812C>G" "" "benign" "" "0000175547" "0" "50" "21" "47420726" "47420726" "subst" "0.00906229" "00430" "COL6A1_000115" "g.47420726C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000812C>T" "" "VUS" "" "0000175548" "0" "10" "21" "47420761" "47420761" "subst" "0" "00430" "COL6A1_000116" "g.47420761G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000847G>A" "" "benign" "" "0000175549" "0" "10" "21" "47420769" "47420769" "subst" "0" "00430" "COL6A1_000117" "g.47420769A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46000855A>G" "" "benign" "" "0000175550" "0" "10" "21" "47421136" "47421136" "subst" "0.0266196" "00430" "COL6A1_000118" "g.47421136C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001222C>T" "" "benign" "" "0000175551" "0" "50" "21" "47421159" "47421159" "subst" "0.0101137" "00430" "COL6A1_000040" "g.47421159G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001245G>A" "" "VUS" "" "0000175552" "0" "10" "21" "47421177" "47421177" "subst" "0.000392815" "00430" "COL6A1_000119" "g.47421177C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001263C>T" "" "benign" "" "0000175553" "0" "50" "21" "47421275" "47421275" "subst" "4.90946E-5" "00430" "COL6A1_000120" "g.47421275G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001361G>A" "" "VUS" "" "0000175554" "0" "10" "21" "47421315" "47421315" "subst" "0.526264" "00430" "COL6A1_000121" "g.47421315C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001401C>T" "" "benign" "" "0000175555" "0" "10" "21" "47421864" "47421864" "subst" "0.363851" "00430" "COL6A1_000122" "g.47421864C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001950C>T" "" "benign" "" "0000175556" "0" "10" "21" "47421870" "47421870" "subst" "0.0172374" "00430" "COL6A1_000123" "g.47421870C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46001956C>T" "" "benign" "" "0000175557" "0" "10" "21" "47421960" "47421960" "subst" "0.00368651" "00430" "COL6A1_000124" "g.47421960T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002046T>C" "" "benign" "" "0000175558" "0" "10" "21" "47421979" "47421979" "subst" "0.00294481" "00430" "COL6A1_000125" "g.47421979C>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002065C>A" "" "benign" "" "0000175559" "0" "10" "21" "47422122" "47422122" "subst" "0.00250707" "00430" "COL6A1_000126" "g.47422122T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002208T>C" "" "benign" "" "0000175560" "0" "50" "21" "47422156" "47422156" "subst" "6.50745E-5" "00430" "COL6A1_000127" "g.47422156G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002242G>A" "" "VUS" "" "0000175561" "0" "10" "21" "47422195" "47422195" "subst" "0.00411076" "00430" "COL6A1_000128" "g.47422195G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002281G>A" "" "benign" "" "0000175562" "0" "50" "21" "47422256" "47422256" "subst" "3.4971E-5" "00430" "COL6A1_000129" "g.47422256C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002342C>T" "" "VUS" "" "0000175563" "0" "10" "21" "47422412" "47422412" "subst" "0.567747" "00430" "COL6A1_000130" "g.47422412C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002498C>T" "" "benign" "" "0000175564" "0" "50" "21" "47422538" "47422538" "subst" "0.000585252" "00430" "COL6A1_000131" "g.47422538G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002624G>A" "" "VUS" "" "0000175565" "0" "50" "21" "47422614" "47422614" "subst" "0.0185197" "00430" "COL6A1_000044" "g.47422614G>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002700G>T" "" "VUS" "" "0000175566" "0" "50" "21" "47422638" "47422639" "" "0" "00430" "COL6A1_000132" "g.47422638_47422639insGCCCGAins47422645_47422678" "" "" "" "c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC" "from website {DBsub-Emory}\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 41: expected EOF). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000175567" "0" "10" "21" "47422639" "47422639" "subst" "0.858176" "00430" "COL6A1_000133" "g.47422639A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002725A>G" "" "benign" "" "0000175568" "0" "10" "21" "47422644" "47422644" "subst" "0.381575" "00430" "COL6A1_000134" "g.47422644G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002730G>A" "" "benign" "" "0000175569" "0" "10" "21" "47422679" "47422679" "subst" "0" "00430" "COL6A1_000135" "g.47422679G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46002765G>A" "" "benign" "" "0000175570" "0" "50" "21" "47422998" "47422998" "subst" "0.000820745" "00430" "COL6A1_000136" "g.47422998A>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003084A>C" "" "VUS" "" "0000175571" "0" "10" "21" "47423015" "47423015" "subst" "0.00785274" "00430" "COL6A1_000137" "g.47423015C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003101C>T" "" "benign" "" "0000175572" "0" "10" "21" "47423040" "47423040" "subst" "0.0287437" "00430" "COL6A1_000138" "g.47423040A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003126A>G" "" "benign" "" "0000175573" "0" "10" "21" "47423357" "47423357" "subst" "0.000446739" "00430" "COL6A1_000139" "g.47423357C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003443C>T" "" "benign" "" "0000175574" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "00430" "COL6A1_000031" "g.47423389G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000175575" "0" "50" "21" "47423454" "47423454" "subst" "8.72579E-5" "00430" "COL6A1_000140" "g.47423454C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003540C>T" "" "VUS" "" "0000175576" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "00430" "COL6A1_000033" "g.47423507G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000175577" "0" "10" "21" "47423509" "47423509" "subst" "0.161847" "00430" "COL6A1_000034" "g.47423509C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003595C>T" "" "benign" "" "0000175578" "0" "10" "21" "47423576" "47423576" "subst" "0.0201611" "00430" "COL6A1_000141" "g.47423576C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003662C>T" "" "benign" "" "0000175579" "0" "10" "21" "47423621" "47423621" "subst" "0.0075054" "00430" "COL6A1_000142" "g.47423621C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003707C>T" "" "benign" "" "0000175580" "0" "10" "21" "47423623" "47423623" "subst" "0.00198801" "00430" "COL6A1_000143" "g.47423623G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003709G>A" "" "benign" "" "0000175581" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00430" "COL6A1_000032" "g.47423636C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000175582" "0" "50" "21" "47423705" "47423705" "subst" "0.00136367" "00430" "COL6A1_000144" "g.47423705C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.46003791C>T" "" "VUS" "" "0000175762" "0" "90" "21" "47409017" "47409017" "subst" "0" "00464" "COL6A1_000145" "g.47409017G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989103G>A" "" "pathogenic" "" "0000175764" "0" "90" "21" "47410741" "47410741" "subst" "0" "00464" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175765" "10" "70" "21" "47418078" "47418086" "del" "0" "00464" "COL6A1_000146" "g.47418078_47418086del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45998164_45998172del" "" "likely pathogenic" "" "0000175766" "1" "90" "21" "47407551" "47407551" "subst" "0" "00537" "COL6A1_000158" "g.47407551G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45987637G>T" "" "pathogenic" "" "0000175767" "1" "90" "21" "47409008" "47409008" "subst" "0" "00537" "COL6A1_000025" "g.47409008G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989094G>A" "" "pathogenic" "" "0000175768" "1" "90" "21" "47409016" "47409016" "subst" "0" "00537" "COL6A1_000024" "g.47409016G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989102G>A" "" "pathogenic" "" "0000175769" "1" "90" "21" "47409016" "47409016" "subst" "0" "00537" "COL6A1_000024" "g.47409016G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989102G>A" "" "pathogenic" "" "0000175770" "1" "90" "21" "47409035" "47409035" "subst" "0" "00537" "COL6A1_000048" "g.47409035G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989121G>A" "" "pathogenic" "" "0000175771" "1" "90" "21" "47409035" "47409035" "subst" "0" "00537" "COL6A1_000157" "g.47409035G>C" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989121G>C" "" "pathogenic" "" "0000175772" "1" "90" "21" "47409034" "47409034" "subst" "0" "00537" "COL6A1_000006" "g.47409034G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175773" "1" "90" "21" "47409034" "47409034" "subst" "0" "00537" "COL6A1_000006" "g.47409034G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175774" "1" "90" "21" "47409034" "47409034" "subst" "0" "00537" "COL6A1_000006" "g.47409034G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175775" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000156" "g.47409043G>C" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>C" "" "pathogenic" "" "0000175776" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000156" "g.47409043G>C" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>C" "" "pathogenic" "" "0000175777" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175778" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175780" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175781" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175782" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175783" "0" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00537" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000175784" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175785" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175786" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175787" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175788" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "De novo" "no" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175789" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175790" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175791" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175792" "1" "90" "21" "47409523" "47409523" "subst" "0" "00537" "COL6A1_000041" "g.47409523G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989609G>A" "" "pathogenic" "" "0000175793" "11" "90" "21" "47409522" "47409522" "subst" "0" "00537" "COL6A1_000154" "g.47409522G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989608G>A" "" "pathogenic" "" "0000175794" "1" "90" "21" "47409522" "47409522" "subst" "0" "00537" "COL6A1_000154" "g.47409522G>A" "" "{PMID:Butterfield:24038877}" "" "" "trace data suggest this variant is mosiac" "Somatic" "" "" "0" "" "" "g.45989608G>A" "" "pathogenic" "" "0000175795" "1" "90" "21" "47409522" "47409522" "subst" "0" "00537" "COL6A1_000154" "g.47409522G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989608G>A" "" "pathogenic" "" "0000175796" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175797" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175798" "1" "90" "21" "47409541" "47409541" "subst" "0" "00537" "COL6A1_000153" "g.47409541G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989627G>A" "" "pathogenic" "" "0000175800" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175801" "21" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175802" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175803" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175804" "1" "90" "21" "47409550" "47409550" "subst" "0" "00537" "COL6A1_000152" "g.47409550G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989636G>T" "" "pathogenic" "" "0000175806" "1" "90" "21" "47409666" "47409666" "subst" "0" "00537" "COL6A1_000150" "g.47409666G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989752G>A" "" "pathogenic" "" "0000175828" "1" "90" "21" "47412079" "47412079" "subst" "0" "00537" "COL6A1_000038" "g.47412079G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45992165G>T" "" "pathogenic" "" "0000175829" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175830" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175831" "1" "90" "21" "47408998" "47408998" "subst" "0" "00537" "COL6A1_000149" "g.47408998G>C" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989084G>C" "" "pathogenic" "" "0000175836" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175837" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175840" "0" "50" "21" "47419593" "47419593" "subst" "4.08047E-5" "00537" "COL6A1_000148" "g.47419593C>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45999679C>T" "" "VUS" "" "0000175841" "1" "90" "21" "47409035" "47409035" "subst" "0" "00537" "COL6A1_000048" "g.47409035G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989121G>A" "" "pathogenic" "" "0000175843" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175844" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175847" "1" "90" "21" "47410706" "47410706" "subst" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175848" "1" "90" "21" "47410706" "47410706" "subst" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175849" "1" "90" "21" "47410706" "47410706" "subst" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175850" "1" "90" "21" "47410706" "47410706" "subst" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175851" "1" "90" "21" "47410706" "47410706" "subst" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000175852" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175853" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175854" "1" "90" "21" "47409523" "47409523" "subst" "0" "00537" "COL6A1_000041" "g.47409523G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989609G>A" "" "pathogenic" "" "0000175855" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175856" "1" "90" "21" "47409532" "47409532" "subst" "0" "00537" "COL6A1_000039" "g.47409532G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989618G>A" "" "pathogenic" "" "0000175857" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175865" "1" "50" "21" "47404304" "47404304" "subst" "0.00128477" "00537" "COL6A1_000147" "g.47404304G>A" "" "{PMID:Butterfield:24038877}" "" "7" "" "De novo" "yes" "" "0" "" "" "g.45984390G>A" "" "VUS" "" "0000175866" "21" "90" "21" "47410705" "47410705" "subst" "0" "00464" "COL6A1_000159" "g.47410705G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45990791G>T" "" "pathogenic" "" "0000175867" "0" "90" "21" "47409558" "47409558" "subst" "0" "00464" "COL6A1_000160" "g.47409558G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45989644G>A" "" "pathogenic" "" "0000175869" "21" "90" "21" "0" "0" "" "0" "00006" "COL6A1_000162" "g.(46400000_46480000)_(48085000_qter)del" "" "{PMID:Foley 2011:21280092}" "" "" "1.6 Mb deletion ADARB1_PRMT2 (incl. COL6A1, COL6A2)" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000175870" "11" "90" "21" "0" "0" "" "0" "00006" "COL6A1_000161" "g.(46950000_47250000)_(48085000_qter)del" "" "{PMID:Foley 2011:21280092}" "" "" "1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2)" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000175871" "1" "90" "21" "47409012" "47409026" "del" "0" "00472" "COL6A1_000163" "g.47409012_47409026del" "" "{PMID:Angelin 2007:17215366}" "" "921-935del" "" "De novo" "yes" "" "0" "" "" "g.45989098_45989112del" "" "pathogenic" "" "0000175876" "11" "90" "21" "47422518" "47422521" "dup" "0" "00472" "COL6A1_000165" "g.47422518_47422521dup" "" "{PMID:Martoni 2013:23738969}" "" "2331insGCCT" "" "Germline" "yes" "" "0" "" "" "g.46002604_46002607dup" "" "pathogenic" "" "0000175877" "1" "90" "21" "47407562" "47407576" "subst" "0" "00472" "COL6A1_000166" "g.47407562_47407576del" "" "{PMID:Martoni 2009:19309692}" "" "" "RNA expression both allels near equal" "De novo" "yes" "" "0" "" "" "g.45987648_45987662del" "" "pathogenic" "" "0000175884" "1" "90" "2" "47409043" "47409043" "subst" "0" "00472" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "Variant Error [EREF/0]: 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." "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000175891" "1" "90" "21" "47409043" "47409043" "subst" "0" "00472" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175892" "1" "90" "21" "47406865" "47406865" "subst" "0" "00472" "COL6A1_000168" "g.47406865G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45986951G>A" "" "pathogenic" "" "0000175893" "21" "90" "21" "47409540" "47409540" "subst" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175894" "0" "90" "21" "47410727" "47410727" "subst" "0.000605529" "00472" "COL6A1_000169" "g.47410727C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990813C>T" "" "pathogenic" "" "0000175895" "0" "90" "21" "47412287" "47412287" "subst" "0" "00472" "COL6A1_000171" "g.47412287G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45992373G>T" "" "pathogenic" "" "0000175896" "0" "90" "21" "47409004" "47409004" "subst" "4.08667E-6" "00472" "COL6A1_000173" "g.47409004C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989090C>T" "" "pathogenic" "" "0000175897" "1" "90" "21" "47406990" "47406990" "subst" "0" "00472" "COL6A1_000172" "g.47406990A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45987076A>G" "" "pathogenic" "" "0000175898" "11" "90" "21" "47404305" "47404305" "subst" "0.000978673" "00472" "COL6A1_000056" "g.47404305T>C" "" "" "" "" "0/200 control chromosomes; no skipping exon3" "Germline" "yes" "" "0" "" "" "g.45984391T>C" "" "pathogenic" "" "0000175899" "1" "90" "21" "47404317" "47404317" "subst" "0" "00472" "COL6A1_000002" "g.47404317A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000175900" "1" "90" "21" "47406865" "47406865" "subst" "0" "00472" "COL6A1_000168" "g.47406865G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45986951G>A" "" "pathogenic" "" "0000175901" "21" "90" "21" "47406913" "47406913" "subst" "0" "00472" "COL6A1_000174" "g.47406913C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45986999C>T" "" "pathogenic" "" "0000175902" "1" "90" "21" "47409034" "47409034" "subst" "0" "00472" "COL6A1_000006" "g.47409034G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989120G>A" "" "pathogenic" "" "0000175903" "1" "90" "21" "47409043" "47409043" "subst" "0" "00472" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175904" "1" "90" "21" "47409043" "47409043" "subst" "0" "00472" "COL6A1_000007" "g.47409043G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000175905" "1" "90" "21" "47409531" "47409531" "subst" "0" "00472" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175906" "1" "90" "21" "47409531" "47409531" "subst" "0" "00472" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175907" "1" "90" "21" "47409531" "47409531" "subst" "0" "00472" "COL6A1_000018" "g.47409531G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000175908" "1" "90" "21" "47409540" "47409540" "subst" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175909" "1" "90" "21" "47409540" "47409540" "subst" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175910" "1" "90" "21" "47409540" "47409540" "subst" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175911" "21" "90" "21" "47409540" "47409540" "del" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000175912" "1" "90" "21" "47409556" "47409561" "subst" "0" "00472" "COL6A1_000175" "g.47409556_47409561del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989642_45989647del" "" "pathogenic" "" "0000175913" "1" "90" "21" "47409656" "47409656" "subst" "0" "00472" "COL6A1_000176" "g.47409656G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45989742G>A" "" "pathogenic" "" "0000175914" "1" "90" "21" "47409693" "47409693" "subst" "0" "00472" "COL6A1_000177" "g.47409693G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000175915" "21" "90" "21" "47410169" "47410169" "subst" "0" "00472" "COL6A1_000178" "g.47410169C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45990255C>G" "" "pathogenic" "" "0000175916" "1" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175917" "1" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175918" "11" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175919" "21" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175920" "1" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175921" "1" "90" "21" "47410741" "47410741" "subst" "0" "00472" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000175922" "1" "90" "21" "47410745" "47410745" "subst" "0" "00472" "COL6A1_000179" "g.47410745G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45990831G>A" "" "pathogenic" "" "0000175923" "1" "90" "21" "47404384" "47404384" "subst" "0" "00472" "COL6A1_000003" "g.47404384G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45984470G>A" "" "pathogenic" "" "0000175986" "0" "50" "21" "47409522" "47409522" "subst" "0" "02188" "COL6A1_000154" "g.47409522G>A" "" "Butterfield, submitted" "" "" "father appears mosaic" "Germline" "yes" "" "0" "" "" "g.45989608G>A" "" "VUS" "" "0000175987" "0" "50" "21" "47409694" "47409694" "subst" "0" "02188" "COL6A1_000037" "g.47409694T>G" "" "" "" "" "father appears to be mosaic" "Germline" "yes" "" "0" "" "" "g.45989780T>G" "" "VUS" "" "0000175989" "21" "90" "21" "47410705" "47410705" "subst" "0" "00464" "COL6A1_000159" "g.47410705G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45990791G>T" "" "pathogenic" "" "0000175990" "11" "90" "21" "47419085" "47419085" "subst" "0" "00464" "COL6A1_000180" "g.47419085C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45999171C>T" "" "pathogenic" "" "0000175992" "21" "90" "21" "47417617" "47417617" "del" "0" "00449" "COL6A1_000020" "g.47417617del" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0010}" "" "1456delG" "protein domain TH" "Germline" "" "" "0" "" "" "g.45997703del" "" "pathogenic" "" "0000175994" "3" "90" "21" "47421895" "47421895" "subst" "0" "00449" "COL6A1_000021" "g.47421895C>G" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0011}" "" "" "protein domain C1" "Germline" "" "" "0" "" "" "g.46001981C>G" "" "pathogenic" "" "0000176004" "0" "90" "21" "47409043" "47409043" "subst" "0" "00449" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0012}" "Msp I" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000176005" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00449" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Giusti 2005:16130093}" "" "C2796T" "" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000176020" "3" "90" "21" "47409050" "47409050" "del" "0" "00449" "COL6A1_000019" "g.47409050del" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0009}" "Msp I" "856delC" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989136del" "" "pathogenic" "" "0000176021" "3" "10" "21" "47410931" "47410931" "subst" "0.522495" "00449" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Giusti 2005:16130093}" "" "C1095T" "" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000176022" "3" "10" "21" "47423509" "47423509" "subst" "0.161847" "00449" "COL6A1_000034" "g.47423509C>T" "" "{PMID:Giusti 2005:16130093}" "" "C2669T" "" "Germline" "" "" "0" "" "" "g.46003595C>T" "" "benign" "" "0000176028" "0" "90" "21" "47409531" "47409531" "subst" "0" "00449" "COL6A1_000028" "g.47409531G>C" "" "{PMID:Giusti 2005:16130093}, {OMIM120220:0013}" "" "" "protein domain TH" "Germline" "" "" "0" "" "" "g.45989617G>C" "" "pathogenic" "" "0000176055" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00006" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000176082" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000176083" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "00006" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000176152" "1" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000176153" "2" "10" "21" "47410931" "47410931" "subst" "0.522495" "00006" "COL6A1_000030" "g.47410931T>C" "" "{PMID:Baker 2007:17886299}" "" "" "helix" "Germline" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000176154" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00006" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000176155" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "00006" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000176208" "1" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000176209" "2" "10" "21" "47423389" "47423389" "subst" "0.283084" "00006" "COL6A1_000031" "g.47423389G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000176210" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00006" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000176211" "1" "10" "21" "47423507" "47423507" "subst" "0.28179" "00006" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000176212" "2" "10" "21" "47423507" "47423507" "subst" "0.28179" "00006" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000176237" "0" "10" "21" "47423510" "47423510" "subst" "4.11594E-5" "00006" "COL6A1_000033" "g.47423510G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003596G>A" "" "benign" "" "0000176262" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "00006" "COL6A1_000032" "g.47423636C>T" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000176263" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "00006" "COL6A1_000033" "g.47423507G>A" "" "{PMID:Baker 2007:17886299}" "" "" "C2" "Germline" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000176293" "11" "10" "21" "47404190" "47404190" "subst" "0" "00464" "COL6A1_000036" "g.47404190C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45984276C>T" "" "benign" "" "0000176297" "0" "50" "21" "47423352" "47423352" "subst" "5.58506E-5" "00464" "COL6A1_000043" "g.47423352G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46003438G>A" "" "VUS" "" "0000176304" "0" "30" "21" "47421963" "47421963" "subst" "0.000235815" "00464" "COL6A1_000049" "g.47421963G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46002049G>A" "" "likely benign" "" "0000176315" "20" "70" "21" "47418078" "47418086" "del" "0" "00464" "COL6A1_000146" "g.47418078_47418086del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45998164_45998172del" "" "likely pathogenic" "" "0000176316" "21" "50" "21" "47404304" "47404304" "subst" "0.00128477" "00537" "COL6A1_000147" "g.47404304G>A" "" "{PMID:Butterfield:24038877}" "" "" "unaffected mother carries this allele" "De novo" "yes" "" "0" "" "" "g.45984390G>A" "" "VUS" "" "0000176317" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000176318" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000176322" "1" "90" "21" "47409540" "47409540" "subst" "0" "00537" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000176323" "1" "90" "21" "47409667" "47409667" "subst" "0" "00537" "COL6A1_000151" "g.47409667G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989753G>A" "" "pathogenic" "" "0000176328" "1" "90" "21" "47409043" "47409043" "subst" "0" "00537" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000176329" "1" "90" "21" "47409531" "47409531" "subst" "0" "00537" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Butterfield:24038877}" "" "" "" "Germline" "?" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000176330" "1" "90" "2" "47410706" "47410706" "del" "0" "00537" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Butterfield:24038877}" "" "" "Variant Error [EREF/0]: 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." "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000176344" "21" "90" "21" "47422316" "47422316" "subst" "0" "00472" "COL6A1_000164" "g.47422316G>C" "" "{PMID23738969:Martoni 2013}" "" "2148+1G>C" "" "Germline" "yes" "" "0" "" "" "g.46002402G>C" "" "pathogenic" "" "0000176349" "21" "90" "21" "47404379" "47404379" "subst" "0" "00472" "COL6A1_000167" "g.47404379G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45984465G>A" "" "pathogenic" "" "0000176360" "21" "90" "21" "47422614" "47422614" "subst" "0.0185197" "00472" "COL6A1_000044" "g.47422614G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46002700G>T" "" "pathogenic" "" "0000176361" "1" "90" "21" "47409540" "47409540" "subst" "0" "00472" "COL6A1_000053" "g.47409540G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000176362" "1" "90" "21" "47412313" "47412313" "subst" "0" "00472" "COL6A1_000170" "g.47412313G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45992399G>C" "" "pathogenic" "" "0000176363" "1" "90" "21" "47406990" "47406990" "subst" "0" "00472" "COL6A1_000172" "g.47406990A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45987076A>G" "" "pathogenic" "" "0000176364" "2" "90" "21" "47406990" "47406990" "subst" "0" "00472" "COL6A1_000172" "g.47406990A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45987076A>G" "" "pathogenic" "" "0000176382" "21" "90" "21" "47406496" "47406496" "del" "1.77949E-5" "00464" "COL6A1_000181" "g.47406496del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45986582del" "" "pathogenic" "" "0000239954" "10" "90" "21" "47404317" "47404317" "subst" "0" "02352" "COL6A1_000002" "g.47404317A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000247675" "0" "10" "21" "47423040" "47423040" "subst" "0.0287437" "02330" "COL6A1_000138" "g.47423040A>G" "" "" "" "COL6A1(NM_001848.2):c.2441A>G (p.(Lys814Arg), p.K814R), COL6A1(NM_001848.3):c.2441A>G (p.K814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003126A>G" "" "benign" "" "0000247678" "0" "10" "21" "47404397" "47404397" "subst" "0.860059" "02330" "COL6A1_000057" "g.47404397A>G" "" "" "" "COL6A1(NM_001848.3):c.428+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984483A>G" "" "benign" "" "0000247679" "0" "10" "21" "47409503" "47409503" "subst" "0.858487" "02330" "COL6A1_000073" "g.47409503A>G" "" "" "" "COL6A1(NM_001848.3):c.859-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989589A>G" "" "benign" "" "0000247680" "0" "10" "21" "47422639" "47422639" "subst" "0.858176" "02330" "COL6A1_000133" "g.47422639A>G" "" "" "" "COL6A1(NM_001848.2):c.2434+15delinsG (p.(=)), COL6A1(NM_001848.3):c.2434+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002725A>G" "" "benign" "" "0000247684" "0" "10" "21" "47412751" "47412751" "subst" "0.861111" "02330" "COL6A1_000092" "g.47412751A>C" "" "" "" "COL6A1(NM_001848.2):c.1335+27A>C, COL6A1(NM_001848.3):c.1335+27A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992837A>C" "" "benign" "" "0000247685" "0" "10" "21" "47424187" "47424187" "subst" "0" "02330" "COL6A1_000227" "g.47424187A>G" "" "" "" "COL6A1(NM_001848.2):c.*260A>G, COL6A1(NM_001848.3):c.*260A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46004273A>G" "" "benign" "" "0000247686" "0" "30" "21" "47422621" "47422621" "subst" "4.11347E-6" "02330" "COL6A1_000224" "g.47422621A>G" "" "" "" "COL6A1(NM_001848.3):c.2431A>G (p.I811V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002707A>G" "" "likely benign" "" "0000247687" "0" "90" "21" "47404317" "47404317" "subst" "0" "02330" "COL6A1_000002" "g.47404317A>G" "" "" "" "COL6A1(NM_001848.3):c.362A>G (p.K121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000247689" "0" "90" "21" "47408996" "47408996" "subst" "0" "02330" "COL6A1_000050" "g.47408996A>G" "" "" "" "COL6A1(NM_001848.3):c.805-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989082A>G" "" "pathogenic" "" "0000248457" "0" "10" "21" "47404397" "47404397" "subst" "0.860059" "02325" "COL6A1_000057" "g.47404397A>G" "" "" "" "COL6A1(NM_001848.3):c.428+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984483A>G" "" "benign" "" "0000248458" "0" "10" "21" "47409503" "47409503" "subst" "0.858487" "02325" "COL6A1_000073" "g.47409503A>G" "" "" "" "COL6A1(NM_001848.3):c.859-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989589A>G" "" "benign" "" "0000248459" "0" "10" "21" "47422639" "47422639" "subst" "0.858176" "02325" "COL6A1_000133" "g.47422639A>G" "" "" "" "COL6A1(NM_001848.2):c.2434+15delinsG (p.(=)), COL6A1(NM_001848.3):c.2434+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002725A>G" "" "benign" "" "0000251734" "0" "30" "21" "47423040" "47423040" "subst" "0.0287437" "02326" "COL6A1_000138" "g.47423040A>G" "" "" "" "COL6A1(NM_001848.2):c.2441A>G (p.(Lys814Arg), p.K814R), COL6A1(NM_001848.3):c.2441A>G (p.K814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003126A>G" "" "likely benign" "" "0000264788" "0" "10" "21" "47401760" "47401760" "subst" "0.554805" "02330" "COL6A1_000054" "g.47401760C>G" "" "" "" "COL6A1(NM_001848.3):c.-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45981846C>G" "" "benign" "" "0000264789" "0" "10" "21" "47424284" "47424296" "del" "0" "02330" "COL6A1_000228" "g.47424284_47424296del" "" "" "" "COL6A1(NM_001848.3):c.*357_*369delTGCCCTCCTGCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46004370_46004382del" "" "benign" "" "0000264790" "0" "30" "21" "47410342" "47410360" "del" "0" "02330" "COL6A1_000210" "g.47410342_47410360del" "" "" "" "COL6A1(NM_001848.3):c.1002+6_1002+24delTGGGGGGAGATAGGATGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990428_45990446del" "" "likely benign" "" "0000264791" "0" "90" "21" "47410741" "47410741" "subst" "0" "02330" "COL6A1_000015" "g.47410741G>A" "" "" "" "COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000264792" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "02330" "COL6A1_000030" "g.47410931T>C" "" "" "" "COL6A1(NM_001848.3):c.1095T>C (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000264793" "0" "10" "21" "47411912" "47411912" "subst" "0.0036649" "02330" "COL6A1_000088" "g.47411912G>A" "" "" "" "COL6A1(NM_001848.2):c.1120-12G>A (p.(=)), COL6A1(NM_001848.3):c.1120-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991998G>A" "" "benign" "" "0000264794" "0" "10" "21" "47411989" "47411989" "subst" "0.00241239" "02330" "COL6A1_000213" "g.47411989G>A" "" "" "" "COL6A1(NM_001848.2):c.1182+3G>A (p.?), COL6A1(NM_001848.3):c.1182+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992075G>A" "" "benign" "" "0000264795" "0" "10" "21" "47417415" "47417415" "subst" "0.59731" "02330" "COL6A1_000097" "g.47417415C>A" "" "" "" "COL6A1(NM_001848.3):c.1461+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45997501C>A" "" "benign" "" "0000264796" "0" "10" "21" "47417695" "47417695" "subst" "0.101028" "02330" "COL6A1_000103" "g.47417695G>C" "" "" "" "COL6A1(NM_001848.3):c.1524+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45997781G>C" "" "benign" "" "0000264797" "0" "10" "21" "47421870" "47421870" "subst" "0.0172374" "02330" "COL6A1_000123" "g.47421870C>T" "" "" "" "COL6A1(NM_001848.2):c.1957-5C>T (p.?), COL6A1(NM_001848.3):c.1957-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001956C>T" "" "benign" "" "0000264798" "0" "10" "21" "47422644" "47422644" "subst" "0.381575" "02330" "COL6A1_000134" "g.47422644G>A" "" "" "" "COL6A1(NM_001848.3):c.2434+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002730G>A" "" "benign" "" "0000264799" "0" "10" "21" "47423015" "47423015" "subst" "0.00785274" "02330" "COL6A1_000137" "g.47423015C>T" "" "" "" "COL6A1(NM_001848.2):c.2435-19C>T (p.(=)), COL6A1(NM_001848.3):c.2435-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003101C>T" "" "benign" "" "0000264800" "0" "50" "21" "47423321" "47423321" "subst" "3.43991E-5" "02330" "COL6A1_000226" "g.47423321G>A" "" "" "" "COL6A1(NM_001848.3):c.2481G>A (p.P827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003407G>A" "" "VUS" "" "0000264801" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "02330" "COL6A1_000031" "g.47423389G>A" "" "" "" "COL6A1(NM_001848.3):c.2549G>A (p.R850H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000264802" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "02330" "COL6A1_000033" "g.47423507G>A" "" "" "" "COL6A1(NM_001848.3):c.2667G>A (p.A889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000264803" "0" "10" "21" "47423576" "47423576" "subst" "0.0201611" "02330" "COL6A1_000141" "g.47423576C>T" "" "" "" "COL6A1(NM_001848.2):c.2736C>T (p.(Asp912=)), COL6A1(NM_001848.3):c.2736C>T (p.D912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003662C>T" "" "benign" "" "0000264804" "0" "10" "21" "47423621" "47423621" "subst" "0.0075054" "02330" "COL6A1_000142" "g.47423621C>T" "" "" "" "COL6A1(NM_001848.2):c.2781C>T (p.(Tyr927=)), COL6A1(NM_001848.3):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003707C>T" "" "benign" "" "0000264805" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "02330" "COL6A1_000032" "g.47423636C>T" "" "" "" "COL6A1(NM_001848.3):c.2796C>T (p.S932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000264806" "0" "50" "21" "47404299" "47404299" "subst" "1.22341E-5" "02330" "COL6A1_000202" "g.47404299G>C" "" "" "" "COL6A1(NM_001848.3):c.344G>C (p.S115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984385G>C" "" "VUS" "" "0000264807" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "02330" "COL6A1_000001" "g.47404302G>A" "" "" "" "COL6A1(NM_001848.2):c.347G>A (p.(Ser116Asn), p.S116N), COL6A1(NM_001848.3):c.347G>A (p.S116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000264809" "0" "10" "21" "47406421" "47406421" "subst" "0.182037" "02330" "COL6A1_000060" "g.47406421G>A" "" "" "" "COL6A1(NM_001848.3):c.429-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986507G>A" "" "benign" "" "0000264811" "0" "10" "21" "47406612" "47406612" "subst" "0.752108" "02330" "COL6A1_000064" "g.47406612C>A" "" "" "" "COL6A1(NM_001848.3):c.588+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986698C>A" "" "benign" "" "0000264812" "0" "10" "21" "47407362" "47407362" "subst" "0" "02330" "COL6A1_000070" "g.47407362C>T" "" "" "" "COL6A1(NM_001848.2):c.739-51C>T, COL6A1(NM_001848.3):c.739-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45987448C>T" "" "benign" "" "0000264813" "0" "50" "21" "47407552" "47407552" "subst" "0" "02330" "COL6A1_000052" "g.47407552G>A" "" "" "" "COL6A1(NM_001848.2):c.788G>A (p.(Gly263Asp)), COL6A1(NM_001848.3):c.788G>A (p.G263D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45987638G>A" "" "VUS" "" "0000264814" "0" "70" "21" "47409035" "47409035" "subst" "0" "02330" "COL6A1_000048" "g.47409035G>A" "" "" "" "COL6A1(NM_001848.3):c.842G>A (p.G281E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989121G>A" "" "likely pathogenic" "" "0000264815" "0" "90" "21" "47409043" "47409043" "subst" "0" "02330" "COL6A1_000007" "g.47409043G>A" "" "" "" "COL6A1(NM_001848.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000264816" "0" "10" "21" "47409502" "47409502" "subst" "0.002847" "02330" "COL6A1_000072" "g.47409502C>T" "" "" "" "COL6A1(NM_001848.2):c.859-20C>T (p.(=)), COL6A1(NM_001848.3):c.859-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989588C>T" "" "benign" "" "0000264817" "0" "50" "21" "47409525" "47409527" "del" "0" "02330" "COL6A1_000204" "g.47409525_47409527del" "" "" "" "COL6A1(NM_001848.3):c.862_864delAGA (p.R288del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989611_45989613del" "" "VUS" "" "0000264818" "0" "90" "21" "47409531" "47409531" "subst" "0" "02330" "COL6A1_000018" "g.47409531G>A" "" "" "" "COL6A1(NM_001848.3):c.868G>A (p.G290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000264819" "0" "70" "21" "47409559" "47409559" "subst" "0" "02330" "COL6A1_000198" "g.47409559G>A" "" "" "" "COL6A1(NM_001848.3):c.896G>A (p.G299E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989645G>A" "" "likely pathogenic" "" "0000264820" "0" "10" "21" "47409580" "47409580" "subst" "0.183484" "02330" "COL6A1_000075" "g.47409580C>A" "" "" "" "COL6A1(NM_001848.2):c.903+14C>A, COL6A1(NM_001848.3):c.903+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989666C>A" "" "benign" "" "0000264821" "0" "90" "21" "47410200" "47410200" "subst" "0" "02330" "COL6A1_000206" "g.47410200T>C" "" "" "" "COL6A1(NM_001848.3):c.957+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990286T>C" "" "pathogenic" "" "0000264822" "0" "10" "21" "47410275" "47410275" "subst" "0.00279671" "02330" "COL6A1_000076" "g.47410275G>A" "" "" "" "COL6A1(NM_001848.2):c.958-17G>A (p.(=)), COL6A1(NM_001848.3):c.958-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990361G>A" "" "benign" "" "0000264823" "0" "50" "21" "47410328" "47410328" "subst" "0" "02330" "COL6A1_000209" "g.47410328G>A" "" "" "" "COL6A1(NM_001848.3):c.994G>A (p.G332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990414G>A" "" "VUS" "" "0000266994" "0" "10" "21" "47401760" "47401760" "subst" "0.554805" "02325" "COL6A1_000054" "g.47401760C>G" "" "" "" "COL6A1(NM_001848.3):c.-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45981846C>G" "" "benign" "" "0000266995" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "02325" "COL6A1_000030" "g.47410931T>C" "" "" "" "COL6A1(NM_001848.3):c.1095T>C (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000266996" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "02325" "COL6A1_000031" "g.47423389G>A" "" "" "" "COL6A1(NM_001848.3):c.2549G>A (p.R850H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000266997" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "02325" "COL6A1_000033" "g.47423507G>A" "" "" "" "COL6A1(NM_001848.3):c.2667G>A (p.A889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000266998" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "02325" "COL6A1_000032" "g.47423636C>T" "" "" "" "COL6A1(NM_001848.3):c.2796C>T (p.S932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000266999" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "02325" "COL6A1_000001" "g.47404302G>A" "" "" "" "COL6A1(NM_001848.2):c.347G>A (p.(Ser116Asn), p.S116N), COL6A1(NM_001848.3):c.347G>A (p.S116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000267000" "0" "10" "21" "47406612" "47406612" "subst" "0.752108" "02325" "COL6A1_000064" "g.47406612C>A" "" "" "" "COL6A1(NM_001848.3):c.588+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986698C>A" "" "benign" "" "0000270495" "0" "30" "21" "47411989" "47411989" "subst" "0.00241239" "02326" "COL6A1_000213" "g.47411989G>A" "" "" "" "COL6A1(NM_001848.2):c.1182+3G>A (p.?), COL6A1(NM_001848.3):c.1182+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992075G>A" "" "likely benign" "" "0000270496" "0" "10" "21" "47420667" "47420667" "subst" "0.0101568" "02326" "COL6A1_000112" "g.47420667C>G" "" "" "" "COL6A1(NM_001848.2):c.1814-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46000753C>G" "" "benign" "" "0000270497" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "02326" "COL6A1_000001" "g.47404302G>A" "" "" "" "COL6A1(NM_001848.2):c.347G>A (p.(Ser116Asn), p.S116N), COL6A1(NM_001848.3):c.347G>A (p.S116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000274274" "0" "50" "21" "47412129" "47412129" "subst" "5.71513E-5" "01943" "COL6A1_000215" "g.47412129G>A" "" "" "" "COL6A1(NM_001848.2):c.1234G>A (p.E412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992215G>A" "" "VUS" "" "0000274275" "0" "30" "21" "47422162" "47422162" "subst" "0.00011698" "01943" "COL6A1_000223" "g.47422162C>T" "" "" "" "COL6A1(NM_001848.2):c.2097C>T (p.G699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002248C>T" "" "likely benign" "" "0000328712" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "01804" "COL6A1_000001" "g.47404302G>A" "" "" "" "COL6A1(NM_001848.2):c.347G>A (p.(Ser116Asn), p.S116N), COL6A1(NM_001848.3):c.347G>A (p.S116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000328713" "0" "30" "21" "47406618" "47406618" "dup" "0" "01804" "COL6A1_000065" "g.47406618dup" "" "" "" "COL6A1(NM_001848.2):c.588+12dup (p.(=)), COL6A1(NM_001848.3):c.588+19dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986704dup" "" "likely benign" "" "0000328715" "0" "50" "21" "47410307" "47410307" "subst" "2.08876E-5" "01804" "COL6A1_000207" "g.47410307C>T" "" "" "" "COL6A1(NM_001848.2):c.973C>T (p.(Arg325Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990393C>T" "" "VUS" "" "0000328717" "0" "30" "21" "47411983" "47411983" "subst" "0.000242928" "01804" "COL6A1_000212" "g.47411983C>T" "" "" "" "COL6A1(NM_001848.2):c.1179C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992069C>T" "" "likely benign" "" "0000328719" "0" "30" "21" "47412654" "47412654" "subst" "0.00579738" "01804" "COL6A1_000089" "g.47412654C>T" "" "" "" "COL6A1(NM_001848.2):c.1273-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992740C>T" "" "likely benign" "" "0000328720" "0" "30" "21" "47412703" "47412703" "subst" "0.00513899" "01804" "COL6A1_000090" "g.47412703G>A" "" "" "" "COL6A1(NM_001848.2):c.1314G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992789G>A" "" "likely benign" "" "0000328721" "0" "50" "21" "47414064" "47414064" "subst" "0.00113676" "01804" "COL6A1_000045" "g.47414064G>A" "" "" "" "COL6A1(NM_001848.2):c.1336-17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45994150G>A" "" "VUS" "" "0000328722" "0" "30" "21" "47414097" "47414097" "subst" "3.06848E-5" "01804" "COL6A1_000216" "g.47414097A>G" "" "" "" "COL6A1(NM_001848.2):c.1352A>G (p.(Gln451Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45994183A>G" "" "likely benign" "" "0000328723" "0" "30" "21" "47417691" "47417691" "subst" "0.00497188" "01804" "COL6A1_000102" "g.47417691G>A" "" "" "" "COL6A1(NM_001848.2):c.1524+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45997777G>A" "" "likely benign" "" "0000328725" "0" "30" "21" "47419051" "47419051" "subst" "0.00014285" "01804" "COL6A1_000218" "g.47419051C>T" "" "" "" "COL6A1(NM_001848.2):c.1675-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45999137C>T" "" "likely benign" "" "0000328727" "0" "30" "21" "47421159" "47421159" "subst" "0.0101137" "01804" "COL6A1_000040" "g.47421159G>A" "" "" "" "COL6A1(NM_001848.2):c.1823-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001245G>A" "" "likely benign" "" "0000328728" "0" "30" "21" "47421855" "47421855" "subst" "0" "01804" "COL6A1_000220" "g.47421855C>T" "" "" "" "COL6A1(NM_001848.2):c.1957-20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001941C>T" "" "likely benign" "" "0000328729" "0" "30" "21" "47421870" "47421870" "subst" "0.0172374" "01804" "COL6A1_000123" "g.47421870C>T" "" "" "" "COL6A1(NM_001848.2):c.1957-5C>T (p.?), COL6A1(NM_001848.3):c.1957-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001956C>T" "" "likely benign" "" "0000328733" "0" "30" "21" "47422638" "47422639" "ins" "0.00014495" "01804" "COL6A1_000225" "g.47422638_47422639insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC" "" "" "" "COL6A1(NM_001848.2):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002724_46002725insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC" "" "likely benign" "" "0000328734" "0" "30" "21" "47423576" "47423576" "subst" "0.0201611" "01804" "COL6A1_000141" "g.47423576C>T" "" "" "" "COL6A1(NM_001848.2):c.2736C>T (p.(Asp912=)), COL6A1(NM_001848.3):c.2736C>T (p.D912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003662C>T" "" "likely benign" "" "0000338157" "0" "10" "21" "47401760" "47401760" "subst" "0.554805" "02327" "COL6A1_000054" "g.47401760C>G" "" "" "" "COL6A1(NM_001848.3):c.-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45981846C>G" "" "benign" "" "0000338158" "0" "90" "21" "47402546" "47402546" "subst" "0" "02327" "COL6A1_000229" "g.47402546A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45982632A>G" "" "pathogenic" "" "0000338159" "0" "10" "21" "47404397" "47404397" "subst" "0.860059" "02327" "COL6A1_000057" "g.47404397A>G" "" "" "" "COL6A1(NM_001848.3):c.428+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984483A>G" "" "benign" "" "0000338160" "0" "10" "21" "47406421" "47406421" "subst" "0.182037" "02327" "COL6A1_000060" "g.47406421G>A" "" "" "" "COL6A1(NM_001848.3):c.429-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986507G>A" "" "benign" "" "0000338161" "0" "30" "21" "47406611" "47406612" "ins" "0" "02327" "COL6A1_000063" "g.47406611_47406612insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986697_45986698insA" "" "likely benign" "" "0000338162" "0" "10" "21" "47406612" "47406612" "subst" "0.752108" "02327" "COL6A1_000064" "g.47406612C>A" "" "" "" "COL6A1(NM_001848.3):c.588+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986698C>A" "" "benign" "" "0000338163" "0" "10" "21" "47409503" "47409503" "subst" "0.858487" "02327" "COL6A1_000073" "g.47409503A>G" "" "" "" "COL6A1(NM_001848.3):c.859-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989589A>G" "" "benign" "" "0000338164" "0" "10" "21" "47409580" "47409580" "subst" "0.183484" "02327" "COL6A1_000075" "g.47409580C>A" "" "" "" "COL6A1(NM_001848.2):c.903+14C>A, COL6A1(NM_001848.3):c.903+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989666C>A" "" "benign" "" "0000338165" "0" "90" "21" "47409694" "47409694" "subst" "0" "02327" "COL6A1_000234" "g.47409694T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989780T>A" "" "pathogenic" "" "0000338166" "0" "70" "21" "47409881" "47409881" "subst" "0" "02327" "COL6A1_000235" "g.47409881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989967C>T" "" "likely pathogenic" "" "0000338167" "0" "90" "21" "47410741" "47410741" "subst" "0" "02327" "COL6A1_000015" "g.47410741G>A" "" "" "" "COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000338169" "0" "10" "21" "47417415" "47417415" "subst" "0.59731" "02327" "COL6A1_000097" "g.47417415C>A" "" "" "" "COL6A1(NM_001848.3):c.1461+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45997501C>A" "" "benign" "" "0000338171" "0" "10" "21" "47417695" "47417695" "subst" "0.101028" "02327" "COL6A1_000103" "g.47417695G>C" "" "" "" "COL6A1(NM_001848.3):c.1524+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45997781G>C" "" "benign" "" "0000338172" "0" "50" "21" "47421154" "47421154" "subst" "0.00136337" "02327" "COL6A1_000242" "g.47421154C>T" "" "" "" "COL6A1(NM_001848.2):c.1823-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001240C>T" "" "VUS" "" "0000338173" "0" "30" "21" "47421159" "47421159" "subst" "0.0101137" "02327" "COL6A1_000040" "g.47421159G>A" "" "" "" "COL6A1(NM_001848.2):c.1823-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001245G>A" "" "likely benign" "" "0000338174" "0" "10" "21" "47421315" "47421315" "subst" "0.526264" "02327" "COL6A1_000121" "g.47421315C>T" "" "" "" "COL6A1(NM_001848.3):c.1956+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001401C>T" "" "benign" "" "0000338175" "0" "30" "21" "47421318" "47421318" "subst" "0" "02327" "COL6A1_000244" "g.47421318C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001404C>G" "" "likely benign" "" "0000338176" "0" "10" "21" "47421864" "47421864" "subst" "0.363851" "02327" "COL6A1_000122" "g.47421864C>T" "" "" "" "COL6A1(NM_001848.3):c.1957-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001950C>T" "" "benign" "" "0000338177" "0" "10" "21" "47421870" "47421870" "subst" "0.0172374" "02327" "COL6A1_000123" "g.47421870C>T" "" "" "" "COL6A1(NM_001848.2):c.1957-5C>T (p.?), COL6A1(NM_001848.3):c.1957-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001956C>T" "" "benign" "" "0000338178" "0" "10" "21" "47422638" "47422639" "ins" "0" "02327" "COL6A1_000246" "g.47422638_47422639insGCCCGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002724_46002725insGCCCGA" "" "benign" "" "0000338179" "0" "50" "21" "47422638" "47422639" "ins" "0" "02327" "COL6A1_000247" "g.47422638_47422639insGCCCGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002724_46002725insGCCCGG" "" "VUS" "" "0000338180" "0" "10" "21" "47422639" "47422639" "subst" "0.858176" "02327" "COL6A1_000133" "g.47422639A>G" "" "" "" "COL6A1(NM_001848.2):c.2434+15delinsG (p.(=)), COL6A1(NM_001848.3):c.2434+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002725A>G" "" "benign" "" "0000338181" "0" "30" "21" "47422643" "47422644" "ins" "0" "02327" "COL6A1_000248" "g.47422643_47422644insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002729_46002730insA" "" "likely benign" "" "0000338182" "0" "10" "21" "47423015" "47423015" "subst" "0.00785274" "02327" "COL6A1_000137" "g.47423015C>T" "" "" "" "COL6A1(NM_001848.2):c.2435-19C>T (p.(=)), COL6A1(NM_001848.3):c.2435-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003101C>T" "" "benign" "" "0000338183" "0" "30" "21" "47423360" "47423360" "subst" "0" "02327" "COL6A1_000250" "g.47423360G>A" "" "" "" "COL6A1(NM_001848.2):c.2520G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003446G>A" "" "likely benign" "" "0000338970" "0" "90" "21" "47410199" "47410199" "subst" "0" "02327" "COL6A1_000011" "g.47410199G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990285G>A" "" "pathogenic" "" "0000340137" "0" "10" "21" "47410931" "47410931" "subst" "0.522495" "02327" "COL6A1_000030" "g.47410931T>C" "" "" "" "COL6A1(NM_001848.3):c.1095T>C (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991017T>C" "" "benign" "" "0000340138" "0" "30" "21" "47419081" "47419081" "subst" "0" "02327" "COL6A1_000241" "g.47419081A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45999167A>C" "" "likely benign" "" "0000340139" "0" "10" "21" "47423507" "47423507" "subst" "0.28179" "02327" "COL6A1_000033" "g.47423507G>A" "" "" "" "COL6A1(NM_001848.3):c.2667G>A (p.A889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003593G>A" "" "benign" "" "0000340140" "0" "10" "21" "47423636" "47423636" "subst" "0.267205" "02327" "COL6A1_000032" "g.47423636C>T" "" "" "" "COL6A1(NM_001848.3):c.2796C>T (p.S932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003722C>T" "" "benign" "" "0000340734" "0" "10" "21" "47423576" "47423576" "subst" "0.0201611" "02327" "COL6A1_000141" "g.47423576C>T" "" "" "" "COL6A1(NM_001848.2):c.2736C>T (p.(Asp912=)), COL6A1(NM_001848.3):c.2736C>T (p.D912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003662C>T" "" "benign" "" "0000340829" "0" "30" "21" "47423705" "47423705" "subst" "0.00136367" "02327" "COL6A1_000144" "g.47423705C>T" "" "" "" "COL6A1(NM_001848.2):c.2865C>T (p.I955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003791C>T" "" "likely benign" "" "0000340927" "0" "10" "21" "47419603" "47419603" "subst" "0.0165931" "02327" "COL6A1_000110" "g.47419603G>A" "" "" "" "COL6A1(NM_001848.2):c.1773G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45999689G>A" "" "benign" "" "0000340979" "0" "30" "21" "47423477" "47423477" "subst" "0.000223495" "02327" "COL6A1_000251" "g.47423477C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003563C>T" "" "likely benign" "" "0000341023" "0" "10" "21" "47422195" "47422195" "subst" "0.00411076" "02327" "COL6A1_000128" "g.47422195G>A" "" "" "" "COL6A1(NM_001848.2):c.2130G>A (p.(Thr710=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002281G>A" "" "benign" "" "0000341027" "0" "30" "21" "47423309" "47423309" "subst" "0.000936281" "02327" "COL6A1_000249" "g.47423309G>A" "" "" "" "COL6A1(NM_001848.2):c.2469G>A (p.T823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003395G>A" "" "likely benign" "" "0000341046" "0" "10" "21" "47423621" "47423621" "subst" "0.0075054" "02327" "COL6A1_000142" "g.47423621C>T" "" "" "" "COL6A1(NM_001848.2):c.2781C>T (p.(Tyr927=)), COL6A1(NM_001848.3):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003707C>T" "" "benign" "" "0000341541" "0" "30" "21" "47421896" "47421896" "subst" "2.08981E-5" "02327" "COL6A1_000245" "g.47421896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001982G>A" "" "likely benign" "" "0000342892" "0" "30" "21" "47412687" "47412687" "subst" "0.00245665" "02327" "COL6A1_000237" "g.47412687G>A" "" "" "" "COL6A1(NM_001848.2):c.1298G>A (p.R433Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45992773G>A" "" "likely benign" "" "0000343423" "0" "10" "21" "47423389" "47423389" "subst" "0.283084" "02327" "COL6A1_000031" "g.47423389G>A" "" "" "" "COL6A1(NM_001848.3):c.2549G>A (p.R850H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003475G>A" "" "benign" "" "0000345000" "0" "70" "21" "47423523" "47423523" "subst" "0" "02327" "COL6A1_000252" "g.47423523C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003609C>T" "" "likely pathogenic" "" "0000345940" "0" "70" "21" "47409017" "47409017" "subst" "0" "02327" "COL6A1_000145" "g.47409017G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989103G>A" "" "likely pathogenic" "" "0000345950" "0" "90" "21" "47409043" "47409043" "subst" "0" "02327" "COL6A1_000007" "g.47409043G>A" "" "" "" "COL6A1(NM_001848.3):c.850G>A (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000345959" "0" "90" "21" "47409531" "47409531" "subst" "0" "02327" "COL6A1_000018" "g.47409531G>A" "" "" "" "COL6A1(NM_001848.3):c.868G>A (p.G290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000345962" "0" "90" "21" "47409540" "47409540" "subst" "0" "02327" "COL6A1_000053" "g.47409540G>A" "" "" "" "COL6A1(NM_001848.3):c.877G>A (p.G293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45989626G>A" "" "pathogenic" "" "0000345996" "0" "50" "21" "47410319" "47410319" "subst" "0.000200309" "02327" "COL6A1_000236" "g.47410319G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990405G>A" "" "VUS" "" "0000346139" "0" "50" "21" "47418078" "47418078" "subst" "0" "02327" "COL6A1_000240" "g.47418078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45998164G>A" "" "VUS" "" "0000346212" "0" "50" "21" "47421900" "47421900" "subst" "2.08807E-5" "02327" "COL6A1_000221" "g.47421900G>A" "" "" "" "COL6A1(NM_001848.3):c.1982G>A (p.G661D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46001986G>A" "" "VUS" "" "0000346621" "0" "50" "21" "47406582" "47406582" "subst" "0" "02327" "COL6A1_000232" "g.47406582A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986668A>T" "" "VUS" "" "0000346787" "0" "10" "21" "47421960" "47421960" "subst" "0.00368651" "02327" "COL6A1_000124" "g.47421960T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002046T>C" "" "benign" "" "0000347654" "0" "30" "21" "47423040" "47423040" "subst" "0.0287437" "02327" "COL6A1_000138" "g.47423040A>G" "" "" "" "COL6A1(NM_001848.2):c.2441A>G (p.(Lys814Arg), p.K814R), COL6A1(NM_001848.3):c.2441A>G (p.K814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003126A>G" "" "likely benign" "" "0000347674" "0" "50" "21" "47423649" "47423649" "subst" "0.000689655" "02327" "COL6A1_000253" "g.47423649A>G" "" "" "" "COL6A1(NM_001848.2):c.2809A>G (p.(Lys937Glu)), COL6A1(NM_001848.3):c.2809A>G (p.K937E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000348669" "0" "10" "21" "47404302" "47404302" "subst" "0.042566" "02327" "COL6A1_000001" "g.47404302G>A" "" "" "" "COL6A1(NM_001848.2):c.347G>A (p.(Ser116Asn), p.S116N), COL6A1(NM_001848.3):c.347G>A (p.S116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984388G>A" "" "benign" "" "0000349200" "0" "10" "21" "47423509" "47423509" "subst" "0.161847" "02327" "COL6A1_000034" "g.47423509C>T" "" "" "" "COL6A1(NM_001848.3):c.2669C>T (p.S890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46003595C>T" "" "benign" "" "0000350367" "0" "50" "21" "47406567" "47406567" "subst" "1.3354E-5" "02327" "COL6A1_000231" "g.47406567G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45986653G>C" "" "VUS" "" "0000351214" "0" "90" "21" "47404385" "47404385" "subst" "0" "02327" "COL6A1_000230" "g.47404385T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45984471T>G" "" "pathogenic" "" "0000351215" "0" "30" "21" "47406974" "47406974" "subst" "0.000193613" "02327" "COL6A1_000233" "g.47406974C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45987060C>T" "" "likely benign" "" "0000351216" "0" "30" "21" "47422122" "47422122" "subst" "0.00250707" "02327" "COL6A1_000126" "g.47422122T>C" "" "" "" "COL6A1(NM_001848.2):c.2067-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46002208T>C" "" "likely benign" "" "0000439093" "0" "90" "21" "47410338" "47410338" "subst" "0" "01164" "COL6A1_000254" "g.47410338T>C" "" "" "" "" "ACMG grading: PP5,PVS1,PM2; probably skipping of Exon 13 which contains the tiple helix Domain; reported in Deconinck 2015. J Neurosunrg Psychiatry 86: 1337-46" "Germline" "" "" "0" "" "" "g.45990424T>C" "" "pathogenic" "ACMG" "0000441259" "0" "90" "21" "47410685" "47410685" "subst" "0" "00006" "COL6A1_000255" "g.47410685A>G" "" "{PMID:Lionel 2018:28771251}" "" "" "" "De novo" "" "" "0" "" "" "g.45990771A>G" "" "pathogenic (dominant)" "" "0000459020" "3" "90" "21" "47402578" "47402578" "subst" "0" "00006" "COL6A1_000256" "g.47402578A>C" "" "{PMID:Saha 2018:30345904}, {DOI:Saha 2018:10.1152/physiolgenomics.00036.2018}" "" "" "" "Germline" "yes" "rs786205555" "0" "" "" "g.45982664A>C" "" "pathogenic (recessive)" "" "0000461387" "1" "50" "21" "47421252" "47421252" "subst" "8.15508E-6" "00430" "COL6A1_000333" "g.47421252C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.46001338C>G" "" "VUS" "" "0000461388" "1" "50" "21" "47423409" "47423409" "subst" "5.00138E-5" "00430" "COL6A1_000354" "g.47423409G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.46003495G>A" "" "VUS" "" "0000461389" "1" "50" "21" "47421963" "47421963" "subst" "0.000235815" "00430" "COL6A1_000049" "g.47421963G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.46002049G>A" "" "VUS" "" "0000461390" "1" "50" "21" "47406559" "47406559" "subst" "0.000345079" "00430" "COL6A1_000275" "g.47406559G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45986645G>A" "" "VUS" "" "0000461391" "1" "50" "21" "47422608" "47422608" "subst" "0.000102454" "00430" "COL6A1_000350" "g.47422608C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002694C>T" "" "VUS" "" "0000461392" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461393" "1" "70" "21" "47418339" "47418339" "subst" "4.06755E-6" "00430" "COL6A1_000051" "g.47418339G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45998425G>A" "" "likely pathogenic" "" "0000461394" "1" "50" "21" "47410205" "47410205" "subst" "8.14684E-6" "00430" "COL6A1_000301" "g.47410205G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990291G>A" "" "VUS" "" "0000461395" "1" "90" "21" "47410171" "47410171" "subst" "0" "00430" "COL6A1_000010" "g.47410171G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990257G>A" "" "pathogenic" "" "0000461396" "3" "90" "21" "47417361" "47417361" "del" "0" "00430" "COL6A1_000315" "g.47417361del" "" "{PMID:Nallamilli 2018:30564623}" "" "1425delA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.45997447del" "" "pathogenic" "" "0000461397" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461398" "1" "50" "21" "47423935" "47423935" "subst" "4.09967E-6" "00430" "COL6A1_000381" "g.47423935T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46004021T>G" "" "VUS" "" "0000461399" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461400" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461401" "1" "70" "21" "47409676" "47409676" "subst" "0" "00430" "COL6A1_000294" "g.47409676G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "may be consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "g.45989762G>A" "" "likely pathogenic" "" "0000461402" "1" "50" "21" "47423826" "47423826" "subst" "8.28247E-6" "00430" "COL6A1_000379" "g.47423826G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003912G>A" "" "VUS" "" "0000461403" "1" "50" "21" "47407527" "47407527" "subst" "2.4524E-5" "00430" "COL6A1_000286" "g.47407527G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987613G>A" "" "VUS" "" "0000461404" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461405" "3" "50" "21" "47423394" "47423394" "subst" "0" "00430" "COL6A1_000352" "g.47423394G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.46003480G>C" "" "VUS" "" "0000461406" "1" "50" "21" "47417332" "47417332" "subst" "0.000268439" "00430" "COL6A1_000314" "g.47417332C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45997418C>T" "" "VUS" "" "0000461407" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461408" "1" "70" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "likely pathogenic" "" "0000461409" "1" "50" "21" "47404280" "47404280" "subst" "1.22518E-5" "00430" "COL6A1_000268" "g.47404280G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984366G>A" "" "VUS" "" "0000461410" "1" "90" "21" "47410706" "47410706" "subst" "0" "00430" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000461411" "1" "50" "21" "47407425" "47407425" "subst" "0.000227731" "00430" "COL6A1_000285" "g.47407425G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987511G>A" "" "VUS" "" "0000461412" "1" "50" "21" "47422475" "47422475" "subst" "4.06266E-6" "00430" "COL6A1_000344" "g.47422475T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002561T>C" "" "VUS" "" "0000461413" "1" "90" "21" "47410741" "47410741" "subst" "0" "00430" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000461414" "1" "50" "21" "47423640" "47423640" "subst" "3.69507E-5" "00430" "COL6A1_000364" "g.47423640G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003726G>A" "" "VUS" "" "0000461415" "1" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00430" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000461416" "1" "50" "21" "47404379" "47404379" "subst" "0.000249892" "00430" "COL6A1_000273" "g.47404379G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984465G>C" "" "VUS" "" "0000461417" "1" "50" "21" "47423696" "47423696" "subst" "0.000251271" "00430" "COL6A1_000367" "g.47423696C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003782C>T" "" "VUS" "" "0000461418" "1" "50" "21" "47404364" "47404364" "subst" "0.000251114" "00430" "COL6A1_000272" "g.47404364C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984450C>G" "" "VUS" "" "0000461419" "1" "70" "21" "47408998" "47408998" "subst" "0" "00430" "COL6A1_000047" "g.47408998G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989084G>A" "" "likely pathogenic" "" "0000461420" "1" "50" "21" "47402588" "47402588" "subst" "0" "00430" "COL6A1_000261" "g.47402588G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982674G>C" "" "VUS" "" "0000461421" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461422" "1" "90" "21" "47402546" "47402553" "del" "0" "00430" "COL6A1_000260" "g.47402546_47402553del" "" "{PMID:Nallamilli 2018:30564623}" "" "98-2_103delAGACTGC" "" "Germline" "" "" "0" "" "" "g.45982632_45982639del" "" "pathogenic" "" "0000461423" "1" "50" "21" "47421968" "47421968" "subst" "5.89956E-5" "00430" "COL6A1_000337" "g.47421968G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002054G>T" "" "VUS" "" "0000461424" "1" "50" "21" "47423309" "47423309" "subst" "0.000936281" "00430" "COL6A1_000249" "g.47423309G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003395G>A" "" "VUS" "" "0000461425" "1" "50" "21" "47404279" "47404279" "subst" "0.00188339" "00430" "COL6A1_000267" "g.47404279C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984365C>T" "" "VUS" "" "0000461426" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461427" "1" "90" "21" "47410723" "47410736" "del" "0" "00430" "COL6A1_000308" "g.47410723_47410736del" "" "{PMID:Nallamilli 2018:30564623}" "" "1039_1052del14" "" "Germline" "" "" "0" "" "" "g.45990809_45990822del" "" "pathogenic" "" "0000461428" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461429" "1" "50" "21" "47422538" "47422538" "subst" "0.000585252" "00430" "COL6A1_000131" "g.47422538G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002624G>A" "" "VUS" "" "0000461430" "1" "90" "21" "47410706" "47410706" "subst" "0" "00430" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000461431" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461432" "1" "90" "21" "47407546" "47407553" "del" "0" "00430" "COL6A1_000288" "g.47407546_47407553del" "" "{PMID:Nallamilli 2018:30564623}" "" "782_789delTCCGGGGC" "" "Germline" "" "" "0" "" "" "g.45987632_45987639del" "" "pathogenic" "" "0000461433" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461434" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461435" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461436" "1" "90" "21" "47409666" "47409666" "subst" "0" "00430" "COL6A1_000150" "g.47409666G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989752G>A" "" "pathogenic" "" "0000461437" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461438" "1" "50" "21" "47410744" "47410744" "subst" "0" "00430" "COL6A1_000310" "g.47410744A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990830A>G" "" "VUS" "" "0000461439" "1" "90" "21" "47410675" "47410690" "delins" "0" "00430" "COL6A1_000304" "g.47410675_47410690delinsGGA" "" "{PMID:Nallamilli 2018:30564623}" "" "1003-12_1006del16insGGA" "" "Germline" "" "" "0" "" "" "g.45990761_45990776delinsGGA" "" "pathogenic" "" "0000461440" "1" "90" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "pathogenic" "" "0000461441" "1" "50" "21" "47422453" "47422453" "subst" "1.21946E-5" "00430" "COL6A1_000343" "g.47422453G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002539G>A" "" "VUS" "" "0000461442" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461443" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461444" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461445" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461446" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461447" "1" "50" "21" "47404334" "47404334" "subst" "0" "00430" "COL6A1_000271" "g.47404334A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984420A>G" "" "VUS" "" "0000461448" "1" "50" "21" "47406943" "47406943" "subst" "0" "00430" "COL6A1_000282" "g.47406943A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987029A>T" "" "VUS" "" "0000461449" "1" "50" "21" "47404279" "47404279" "subst" "0.00188339" "00430" "COL6A1_000267" "g.47404279C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984365C>T" "" "VUS" "" "0000461450" "1" "50" "21" "47423308" "47423308" "subst" "0" "00430" "COL6A1_000351" "g.47423308C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003394C>T" "" "VUS" "" "0000461451" "1" "50" "21" "47423713" "47423713" "subst" "9.06394E-5" "00430" "COL6A1_000370" "g.47423713C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003799C>A" "" "VUS" "" "0000461452" "1" "50" "21" "47414097" "47414097" "subst" "3.06848E-5" "00430" "COL6A1_000216" "g.47414097A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45994183A>G" "" "VUS" "" "0000461453" "1" "90" "21" "47409043" "47409043" "subst" "0" "00430" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000461454" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461455" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461456" "1" "90" "21" "47410173" "47410173" "subst" "0" "00430" "COL6A1_000297" "g.47410173G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990259G>A" "" "pathogenic" "" "0000461457" "1" "50" "21" "47410951" "47410951" "subst" "0.000296931" "00430" "COL6A1_000211" "g.47410951A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991037A>G" "" "VUS" "" "0000461458" "1" "50" "21" "47423451" "47423451" "subst" "1.66132E-5" "00430" "COL6A1_000356" "g.47423451G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003537G>A" "" "VUS" "" "0000461459" "1" "50" "21" "47420676" "47420676" "subst" "8.12249E-6" "00430" "COL6A1_000329" "g.47420676G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46000762G>T" "" "VUS" "" "0000461460" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461461" "1" "90" "21" "47410741" "47410741" "subst" "0" "00430" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000461462" "1" "50" "21" "47423731" "47423731" "subst" "4.12916E-6" "00430" "COL6A1_000373" "g.47423731G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.46003817G>A" "" "VUS" "" "0000461463" "1" "50" "21" "47419076" "47419076" "subst" "1.33679E-5" "00430" "COL6A1_000324" "g.47419076A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.45999162A>G" "" "VUS" "" "0000461464" "1" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00430" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in COL6A1" "Germline" "" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000461465" "1" "90" "21" "47404317" "47404317" "subst" "0" "00430" "COL6A1_000002" "g.47404317A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000461466" "1" "50" "21" "47406934" "47406934" "subst" "0" "00430" "COL6A1_000280" "g.47406934G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987020G>A" "" "VUS" "" "0000461467" "1" "50" "21" "47418065" "47418065" "subst" "6.20378E-5" "00430" "COL6A1_000320" "g.47418065G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998151G>A" "" "VUS" "" "0000461468" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461469" "1" "50" "21" "47421968" "47421968" "subst" "5.89956E-5" "00430" "COL6A1_000337" "g.47421968G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002054G>T" "" "VUS" "" "0000461470" "1" "70" "21" "47419116" "47419116" "subst" "0" "00430" "COL6A1_000326" "g.47419116G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45999202G>A" "" "likely pathogenic" "" "0000461471" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461472" "1" "70" "21" "47407408" "47407415" "del" "0" "00430" "COL6A1_000283" "g.47407408_47407415del" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987494_45987501del" "" "likely pathogenic" "" "0000461473" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461474" "1" "50" "21" "47406567" "47406567" "subst" "1.3354E-5" "00430" "COL6A1_000231" "g.47406567G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986653G>C" "" "VUS" "" "0000461475" "1" "50" "21" "47410951" "47410951" "subst" "0.000296931" "00430" "COL6A1_000211" "g.47410951A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45991037A>G" "" "VUS" "" "0000461476" "1" "90" "21" "47410706" "47410706" "subst" "0" "00430" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000461477" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461478" "1" "50" "21" "47421173" "47421173" "subst" "4.13842E-5" "00430" "COL6A1_000330" "g.47421173A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46001259A>C" "" "VUS" "" "0000461479" "1" "50" "21" "47421963" "47421963" "subst" "0.000235815" "00430" "COL6A1_000049" "g.47421963G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002049G>A" "" "VUS" "" "0000461480" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461481" "1" "50" "21" "47410932" "47410932" "subst" "0.000223639" "00430" "COL6A1_000313" "g.47410932G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991018G>A" "" "VUS" "" "0000461482" "1" "70" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "likely pathogenic" "" "0000461483" "1" "50" "21" "47404240" "47404240" "subst" "2.46336E-5" "00430" "COL6A1_000265" "g.47404240C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984326C>G" "" "VUS" "" "0000461484" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461485" "1" "50" "21" "47422499" "47422499" "subst" "0" "00430" "COL6A1_000346" "g.47422499A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002585A>G" "" "VUS" "" "0000461486" "1" "50" "21" "47410197" "47410197" "subst" "0" "00430" "COL6A1_000299" "g.47410197A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990283A>G" "" "VUS" "" "0000461487" "1" "50" "21" "47410169" "47410169" "subst" "0" "00430" "COL6A1_000295" "g.47410169C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990255C>A" "" "VUS" "" "0000461488" "1" "50" "21" "47422475" "47422475" "subst" "4.06266E-6" "00430" "COL6A1_000344" "g.47422475T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002561T>C" "" "VUS" "" "0000461489" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461490" "1" "50" "21" "47422197" "47422197" "subst" "0" "00430" "COL6A1_000338" "g.47422197G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002283G>A" "" "VUS" "" "0000461491" "1" "90" "21" "47409690" "47409692" "del" "0" "00430" "COL6A1_000029" "g.47409690_47409692del" "" "{PMID:Nallamilli 2018:30564623}" "" "928_930delAAG" "" "Germline" "" "" "0" "" "" "g.45989776_45989778del" "" "pathogenic" "" "0000461492" "1" "50" "21" "47423598" "47423598" "subst" "0.000253508" "00430" "COL6A1_000361" "g.47423598C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003684C>T" "" "VUS" "" "0000461493" "1" "50" "21" "47421967" "47421967" "subst" "0.000282319" "00430" "COL6A1_000336" "g.47421967C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002053C>T" "" "VUS" "" "0000461494" "1" "50" "21" "47418843" "47418843" "subst" "0.000308087" "00430" "COL6A1_000217" "g.47418843C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998929C>T" "" "VUS" "" "0000461495" "1" "50" "21" "47406936" "47406936" "subst" "8.06853E-5" "00430" "COL6A1_000281" "g.47406936G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987022G>A" "" "VUS" "" "0000461496" "1" "50" "21" "47404266" "47404266" "subst" "1.22639E-5" "00430" "COL6A1_000266" "g.47404266C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984352C>T" "" "VUS" "" "0000461497" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461498" "1" "50" "21" "47419100" "47419100" "subst" "0.00015451" "00430" "COL6A1_000325" "g.47419100G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45999186G>A" "" "VUS" "" "0000461499" "1" "50" "21" "47423605" "47423605" "subst" "1.63583E-5" "00430" "COL6A1_000362" "g.47423605A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003691A>G" "" "VUS" "" "0000461500" "1" "70" "21" "47409026" "47409026" "subst" "0" "00430" "COL6A1_000291" "g.47409026G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989112G>A" "" "likely pathogenic" "" "0000461501" "1" "50" "21" "47410928" "47410928" "subst" "4.47245E-5" "00430" "COL6A1_000312" "g.47410928C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45991014C>T" "" "VUS" "" "0000461502" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461503" "1" "50" "21" "47422212" "47422212" "subst" "1.49964E-5" "00430" "COL6A1_000339" "g.47422212C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002298C>T" "" "VUS" "" "0000461504" "1" "50" "21" "47407425" "47407425" "subst" "0.000227731" "00430" "COL6A1_000285" "g.47407425G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987511G>A" "" "VUS" "" "0000461505" "1" "90" "21" "47410705" "47410705" "subst" "0" "00430" "COL6A1_000159" "g.47410705G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990791G>T" "" "pathogenic" "" "0000461506" "1" "70" "21" "47407552" "47407552" "subst" "0" "00430" "COL6A1_000052" "g.47407552G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987638G>A" "" "likely pathogenic" "" "0000461507" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461508" "1" "90" "21" "47410705" "47410705" "subst" "0" "00430" "COL6A1_000159" "g.47410705G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990791G>T" "" "pathogenic" "" "0000461509" "1" "90" "21" "47410705" "47410705" "subst" "0" "00430" "COL6A1_000159" "g.47410705G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990791G>T" "" "pathogenic" "" "0000461510" "1" "50" "21" "47422603" "47422603" "subst" "0" "00430" "COL6A1_000349" "g.47422603G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002689G>A" "" "VUS" "" "0000461511" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461512" "1" "70" "21" "47418865" "47418865" "subst" "0" "00430" "COL6A1_000322" "g.47418865G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998951G>A" "" "likely pathogenic" "" "0000461513" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461514" "1" "30" "21" "47423869" "47423869" "subst" "0.000389424" "00430" "COL6A1_000380" "g.47423869A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003955A>G" "" "likely benign" "" "0000461515" "1" "50" "21" "47418068" "47418068" "subst" "0" "00430" "COL6A1_000321" "g.47418068G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998154G>A" "" "VUS" "" "0000461516" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461517" "1" "50" "21" "47418870" "47418870" "subst" "2.63894E-5" "00430" "COL6A1_000323" "g.47418870C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998956C>T" "" "VUS" "" "0000461518" "1" "50" "21" "47417629" "47417629" "subst" "0" "00430" "COL6A1_000316" "g.47417629C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45997715C>A" "" "VUS" "" "0000461519" "1" "50" "21" "47423697" "47423697" "subst" "0.000172998" "00430" "COL6A1_000368" "g.47423697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003783G>A" "" "VUS" "" "0000461520" "1" "50" "21" "47423716" "47423716" "subst" "0.000181225" "00430" "COL6A1_000372" "g.47423716T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003802T>C" "" "VUS" "" "0000461521" "1" "50" "21" "47410745" "47410745" "subst" "0" "00430" "COL6A1_000311" "g.47410745G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990831G>T" "" "VUS" "" "0000461522" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461523" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461524" "1" "50" "21" "47406552" "47406552" "subst" "0" "00430" "COL6A1_000274" "g.47406552C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45986638C>T" "" "VUS" "" "0000461525" "1" "50" "21" "47402545" "47402545" "subst" "0" "00430" "COL6A1_000259" "g.47402545C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982631C>G" "" "VUS" "" "0000461526" "1" "50" "21" "47422260" "47422260" "subst" "0" "00430" "COL6A1_000342" "g.47422260C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002346C>T" "" "VUS" "" "0000461527" "1" "50" "21" "47423696" "47423696" "subst" "0.000251271" "00430" "COL6A1_000367" "g.47423696C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003782C>T" "" "VUS" "" "0000461528" "1" "50" "21" "47419076" "47419076" "subst" "1.33679E-5" "00430" "COL6A1_000324" "g.47419076A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45999162A>G" "" "VUS" "" "0000461529" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461530" "1" "90" "21" "47410706" "47410706" "subst" "0" "00430" "COL6A1_000014" "g.47410706G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990792G>T" "" "pathogenic" "" "0000461531" "1" "50" "21" "47422197" "47422197" "subst" "0" "00430" "COL6A1_000338" "g.47422197G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002283G>A" "" "VUS" "" "0000461532" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461533" "1" "50" "21" "47406876" "47406876" "subst" "0" "00430" "COL6A1_000277" "g.47406876A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986962A>G" "" "VUS" "" "0000461534" "1" "50" "21" "47407425" "47407425" "subst" "0.000227731" "00430" "COL6A1_000285" "g.47407425G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987511G>A" "" "VUS" "" "0000461535" "1" "50" "21" "47410745" "47410745" "subst" "0" "00430" "COL6A1_000311" "g.47410745G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990831G>T" "" "VUS" "" "0000461536" "1" "50" "21" "47410745" "47410745" "subst" "0" "00430" "COL6A1_000311" "g.47410745G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990831G>T" "" "VUS" "" "0000461537" "1" "90" "21" "47409531" "47409531" "subst" "0" "00430" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000461538" "1" "50" "21" "47423309" "47423309" "subst" "0.000936281" "00430" "COL6A1_000249" "g.47423309G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003395G>A" "" "VUS" "" "0000461539" "1" "50" "21" "47418063" "47418063" "subst" "0.000111769" "00430" "COL6A1_000319" "g.47418063C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45998149C>A" "" "VUS" "" "0000461540" "1" "50" "21" "47406934" "47406934" "subst" "0" "00430" "COL6A1_000280" "g.47406934G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987020G>A" "" "VUS" "" "0000461541" "1" "50" "21" "47404331" "47404331" "subst" "0" "00430" "COL6A1_000270" "g.47404331G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984417G>A" "" "VUS" "" "0000461542" "1" "50" "21" "47423466" "47423466" "subst" "1.65708E-5" "00430" "COL6A1_000357" "g.47423466G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003552G>A" "" "VUS" "" "0000461543" "1" "50" "21" "47423466" "47423466" "subst" "1.65708E-5" "00430" "COL6A1_000357" "g.47423466G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003552G>A" "" "VUS" "" "0000461544" "1" "50" "21" "47421252" "47421252" "subst" "8.15508E-6" "00430" "COL6A1_000333" "g.47421252C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46001338C>G" "" "VUS" "" "0000461545" "1" "50" "21" "47412129" "47412129" "subst" "5.71513E-5" "00430" "COL6A1_000215" "g.47412129G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45992215G>A" "" "VUS" "" "0000461546" "1" "50" "21" "47422538" "47422538" "subst" "0.000585252" "00430" "COL6A1_000131" "g.47422538G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002624G>A" "" "VUS" "" "0000461547" "1" "50" "21" "47414095" "47414095" "subst" "0.000414773" "00430" "COL6A1_000093" "g.47414095G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45994181G>A" "" "VUS" "" "0000461548" "1" "50" "21" "47414095" "47414095" "subst" "0.000414773" "00430" "COL6A1_000093" "g.47414095G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45994181G>A" "" "VUS" "" "0000461549" "1" "50" "21" "47423502" "47423502" "subst" "7.83118E-5" "00430" "COL6A1_000359" "g.47423502C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003588C>T" "" "VUS" "" "0000461550" "1" "50" "21" "47420251" "47420251" "subst" "1.21851E-5" "00430" "COL6A1_000328" "g.47420251G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46000337G>A" "" "VUS" "" "0000461551" "1" "90" "21" "47410199" "47410199" "subst" "0" "00430" "COL6A1_000011" "g.47410199G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990285G>A" "" "pathogenic" "" "0000461552" "1" "50" "21" "47422494" "47422494" "subst" "0.000195005" "00430" "COL6A1_000345" "g.47422494G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002580G>C" "" "VUS" "" "0000461553" "1" "50" "21" "47409015" "47409015" "subst" "2.45367E-5" "00430" "COL6A1_000290" "g.47409015G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989101G>A" "" "VUS" "" "0000461554" "1" "90" "21" "47410171" "47410171" "subst" "0" "00430" "COL6A1_000296" "g.47410171G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990257G>C" "" "pathogenic" "" "0000461555" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461556" "1" "50" "21" "47418050" "47418050" "subst" "8.71615E-5" "00430" "COL6A1_000318" "g.47418050G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45998136G>A" "" "VUS" "" "0000461557" "1" "90" "21" "47409521" "47409521" "subst" "0" "00430" "COL6A1_000046" "g.47409521G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989607G>C" "" "pathogenic" "" "0000461558" "1" "90" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "pathogenic" "" "0000461559" "1" "90" "21" "47409531" "47409531" "subst" "0" "00430" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000461560" "3" "50" "21" "47406990" "47406990" "subst" "0" "00430" "COL6A1_000172" "g.47406990A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.45987076A>G" "" "VUS" "" "0000461561" "1" "90" "21" "47410741" "47410741" "subst" "0" "00430" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000461562" "1" "50" "21" "47421953" "47421953" "subst" "1.25313E-5" "00430" "COL6A1_000335" "g.47421953C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002039C>T" "" "VUS" "" "0000461563" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461564" "1" "90" "21" "47409004" "47409004" "subst" "4.08667E-6" "00430" "COL6A1_000173" "g.47409004C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989090C>T" "" "pathogenic" "" "0000461565" "1" "50" "21" "47404202" "47404202" "subst" "0" "00430" "COL6A1_000264" "g.47404202A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984288A>G" "" "VUS" "" "0000461566" "1" "50" "21" "47421963" "47421963" "subst" "0.000235815" "00430" "COL6A1_000049" "g.47421963G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002049G>A" "" "VUS" "" "0000461567" "1" "50" "21" "47419104" "47419104" "subst" "0.000110235" "00430" "COL6A1_000017" "g.47419104A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45999190A>C" "" "VUS" "" "0000461568" "1" "50" "21" "0" "0" "" "0" "00430" "COL6A1_000000" "g.?" "" "{PMID:Nallamilli 2018:30564623}" "" "139G>A (V47M)" "no second variant" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000461569" "1" "50" "21" "47409039" "47409047" "del" "0" "00430" "COL6A1_000292" "g.47409039_47409047del" "" "{PMID:Nallamilli 2018:30564623}" "" "846_854del9" "no second variant" "Germline" "" "" "0" "" "" "g.45989125_45989133del" "" "VUS" "" "0000461570" "1" "50" "21" "47423401" "47423401" "subst" "7.10869E-5" "00430" "COL6A1_000353" "g.47423401G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003487G>A" "" "VUS" "" "0000461571" "1" "50" "21" "47421181" "47421181" "subst" "3.70868E-5" "00430" "COL6A1_000332" "g.47421181C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46001267C>A" "" "VUS" "" "0000461572" "1" "50" "21" "47410932" "47410932" "subst" "0.000223639" "00430" "COL6A1_000313" "g.47410932G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991018G>A" "" "VUS" "" "0000461573" "1" "50" "21" "47423869" "47423869" "subst" "0.000389424" "00430" "COL6A1_000380" "g.47423869A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003955A>G" "" "VUS" "" "0000461574" "1" "50" "21" "47423713" "47423713" "subst" "9.06394E-5" "00430" "COL6A1_000370" "g.47423713C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003799C>A" "" "VUS" "" "0000461575" "1" "50" "21" "47406915" "47406915" "subst" "0" "00430" "COL6A1_000279" "g.47406915G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987001G>T" "" "VUS" "" "0000461576" "1" "50" "21" "47423754" "47423754" "subst" "0" "00430" "COL6A1_000375" "g.47423754G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003840G>A" "" "VUS" "" "0000461577" "1" "50" "21" "47410198" "47410198" "subst" "0" "00430" "COL6A1_000300" "g.47410198G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990284G>A" "" "VUS" "" "0000461578" "1" "70" "21" "47410182" "47410182" "subst" "0" "00430" "COL6A1_000298" "g.47410182G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990268G>A" "" "likely pathogenic" "" "0000461579" "1" "90" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "pathogenic" "" "0000461580" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461581" "1" "50" "21" "47422550" "47422550" "subst" "4.06633E-6" "00430" "COL6A1_000348" "g.47422550C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002636C>T" "" "VUS" "" "0000461582" "1" "50" "21" "47410951" "47410951" "subst" "0.000296931" "00430" "COL6A1_000211" "g.47410951A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991037A>G" "" "VUS" "" "0000461583" "1" "50" "21" "47423715" "47423715" "subst" "7.41479E-5" "00430" "COL6A1_000371" "g.47423715G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003801G>A" "" "VUS" "" "0000461584" "1" "50" "21" "47421968" "47421968" "subst" "5.89956E-5" "00430" "COL6A1_000337" "g.47421968G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002054G>T" "" "VUS" "" "0000461585" "1" "90" "21" "47410741" "47410741" "subst" "0" "00430" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "" "0000461586" "1" "90" "21" "47410741" "47410741" "del" "0" "00430" "COL6A1_000035" "g.47410741del" "" "{PMID:Nallamilli 2018:30564623}" "" "1056+1delG" "no second variant" "Germline" "" "" "0" "" "" "g.45990827del" "" "pathogenic" "" "0000461587" "1" "50" "21" "47423713" "47423713" "subst" "9.06394E-5" "00430" "COL6A1_000370" "g.47423713C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003799C>A" "" "VUS" "" "0000461588" "1" "50" "21" "47423739" "47423739" "subst" "1.23928E-5" "00430" "COL6A1_000374" "g.47423739A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003825A>G" "" "VUS" "" "0000461589" "1" "50" "21" "47406936" "47406936" "subst" "8.06853E-5" "00430" "COL6A1_000281" "g.47406936G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987022G>A" "" "VUS" "" "0000461590" "1" "90" "21" "47410686" "47410686" "subst" "0" "00430" "COL6A1_000306" "g.47410686G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45990772G>A" "" "pathogenic" "" "0000461591" "1" "50" "21" "47402676" "47402676" "subst" "0" "00430" "COL6A1_000263" "g.47402676A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982762A>C" "" "VUS" "" "0000461592" "1" "50" "21" "47410330" "47410330" "subst" "0.00037983" "00430" "COL6A1_000303" "g.47410330C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990416C>T" "" "VUS" "" "0000461593" "1" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00430" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000461594" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461595" "1" "50" "21" "47423793" "47423793" "subst" "1.67326E-5" "00430" "COL6A1_000376" "g.47423793G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003879G>A" "" "VUS" "" "0000461596" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461597" "1" "50" "21" "47423598" "47423598" "subst" "0.000253508" "00430" "COL6A1_000361" "g.47423598C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003684C>T" "" "VUS" "" "0000461598" "1" "50" "21" "47418065" "47418065" "subst" "6.20378E-5" "00430" "COL6A1_000320" "g.47418065G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45998151G>A" "" "VUS" "" "0000461599" "1" "50" "21" "47401838" "47401838" "subst" "1.7306E-5" "00430" "COL6A1_000258" "g.47401838C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45981924C>A" "" "VUS" "" "0000461600" "1" "90" "21" "47409531" "47409531" "subst" "0" "00430" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000461601" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461602" "1" "50" "21" "47422230" "47422230" "subst" "0" "00430" "COL6A1_000341" "g.47422230G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002316G>A" "" "VUS" "" "0000461603" "1" "50" "21" "47423823" "47423823" "subst" "3.31406E-5" "00430" "COL6A1_000378" "g.47423823G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003909G>A" "" "VUS" "" "0000461604" "1" "50" "21" "47404312" "47404312" "subst" "6.93408E-5" "00430" "COL6A1_000269" "g.47404312G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45984398G>A" "" "VUS" "" "0000461605" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461606" "1" "50" "21" "47409569" "47409573" "delins" "0" "00430" "COL6A1_000293" "g.47409569_47409573delinsCCTTC" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45989655_45989659delinsCCTTC" "" "VUS" "" "0000461607" "1" "50" "21" "47417332" "47417332" "subst" "0.000268439" "00430" "COL6A1_000314" "g.47417332C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45997418C>T" "" "VUS" "" "0000461608" "1" "50" "21" "0" "0" "" "0" "00430" "COL6A1_000000" "g.?" "" "{PMID:Nallamilli 2018:30564623}" "" "c.717+4A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000461609" "1" "50" "21" "47422545" "47422545" "subst" "0.000174787" "00430" "COL6A1_000347" "g.47422545C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46002631C>A" "" "VUS" "" "0000461610" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461611" "1" "90" "21" "47409531" "47409531" "subst" "0" "00430" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000461612" "1" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00430" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000461613" "1" "50" "21" "47404305" "47404305" "subst" "0.000978673" "00430" "COL6A1_000056" "g.47404305T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984391T>C" "" "VUS" "" "0000461614" "1" "50" "21" "47418042" "47418042" "subst" "0" "00430" "COL6A1_000317" "g.47418042A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45998128A>G" "" "VUS" "" "0000461615" "1" "50" "21" "47421967" "47421967" "subst" "0.000282319" "00430" "COL6A1_000336" "g.47421967C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002053C>T" "" "VUS" "" "0000461616" "1" "50" "21" "47407540" "47407540" "subst" "4.10253E-5" "00430" "COL6A1_000287" "g.47407540C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987626C>T" "" "VUS" "" "0000461617" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461618" "1" "90" "21" "47404317" "47404317" "subst" "0" "00430" "COL6A1_000002" "g.47404317A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "pathogenic" "" "0000461619" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461620" "1" "50" "21" "47410951" "47410951" "subst" "0.000296931" "00430" "COL6A1_000211" "g.47410951A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991037A>G" "" "VUS" "" "0000461621" "1" "50" "21" "47410745" "47410745" "subst" "0" "00430" "COL6A1_000311" "g.47410745G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990831G>T" "" "VUS" "" "0000461622" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461623" "1" "50" "21" "47407424" "47407424" "subst" "4.06577E-6" "00430" "COL6A1_000284" "g.47407424C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987510C>A" "" "VUS" "" "0000461624" "1" "50" "21" "47423625" "47423625" "subst" "2.04841E-5" "00430" "COL6A1_000363" "g.47423625G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003711G>A" "" "VUS" "" "0000461625" "1" "50" "21" "47423482" "47423482" "subst" "0.000681953" "00430" "COL6A1_000358" "g.47423482C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003568C>T" "" "VUS" "" "0000461626" "1" "50" "21" "47410932" "47410932" "subst" "0.000223639" "00430" "COL6A1_000313" "g.47410932G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991018G>A" "" "VUS" "" "0000461627" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461628" "1" "50" "21" "47423697" "47423697" "subst" "0.000172998" "00430" "COL6A1_000368" "g.47423697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003783G>A" "" "VUS" "" "0000461629" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461630" "1" "50" "21" "47423401" "47423401" "subst" "7.10869E-5" "00430" "COL6A1_000353" "g.47423401G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003487G>A" "" "VUS" "" "0000461631" "1" "50" "21" "47417332" "47417332" "subst" "0.000268439" "00430" "COL6A1_000314" "g.47417332C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45997418C>T" "" "VUS" "" "0000461632" "1" "50" "21" "47421891" "47421891" "subst" "0" "00430" "COL6A1_000334" "g.47421891C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46001977C>T" "" "VUS" "" "0000461633" "1" "50" "21" "47410932" "47410932" "subst" "0.000223639" "00430" "COL6A1_000313" "g.47410932G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45991018G>A" "" "VUS" "" "0000461634" "1" "50" "21" "47401764" "47401764" "subst" "1.57608E-5" "00430" "COL6A1_000257" "g.47401764C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45981850C>T" "" "VUS" "" "0000461635" "1" "50" "21" "47423688" "47423688" "subst" "2.058E-5" "00430" "COL6A1_000366" "g.47423688G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003774G>A" "" "VUS" "" "0000461636" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461637" "1" "50" "21" "47410197" "47410197" "subst" "0" "00430" "COL6A1_000299" "g.47410197A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990283A>G" "" "VUS" "" "0000461638" "1" "50" "21" "47423435" "47423435" "subst" "0.000141443" "00430" "COL6A1_000355" "g.47423435G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003521G>A" "" "VUS" "" "0000461639" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461640" "1" "50" "21" "47406897" "47406897" "subst" "0" "00430" "COL6A1_000278" "g.47406897C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986983C>T" "" "VUS" "" "0000461641" "1" "50" "21" "47419565" "47419565" "subst" "0.000106073" "00430" "COL6A1_000327" "g.47419565G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45999651G>A" "" "VUS" "" "0000461642" "1" "50" "21" "47406990" "47406990" "subst" "0" "00430" "COL6A1_000172" "g.47406990A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987076A>G" "" "VUS" "" "0000461643" "1" "50" "21" "47423703" "47423703" "subst" "1.23463E-5" "00430" "COL6A1_000369" "g.47423703A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003789A>G" "" "VUS" "" "0000461644" "1" "90" "21" "47422225" "47422225" "dup" "0" "00430" "COL6A1_000340" "g.47422225dup" "" "{PMID:Nallamilli 2018:30564623}" "" "2160dupC" "no second variant" "Germline" "" "" "0" "" "" "g.46002311dup" "" "pathogenic" "" "0000461645" "1" "50" "21" "47406862" "47406862" "subst" "6.71601E-5" "00430" "COL6A1_000276" "g.47406862C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986948C>T" "" "VUS" "" "0000461646" "1" "50" "21" "47423697" "47423697" "subst" "0.000172998" "00430" "COL6A1_000368" "g.47423697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003783G>A" "" "VUS" "" "0000461647" "1" "50" "21" "0" "0" "" "0" "00430" "COL6A1_000000" "g.?" "" "{PMID:Nallamilli 2018:30564623}" "" "7342G>T (V2448F)" "no second variant" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000461648" "1" "50" "21" "47423808" "47423808" "subst" "0.000141781" "00430" "COL6A1_000377" "g.47423808A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003894A>C" "" "VUS" "" "0000461649" "1" "50" "21" "47421963" "47421963" "subst" "0.000235815" "00430" "COL6A1_000049" "g.47421963G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002049G>A" "" "VUS" "" "0000461650" "1" "50" "21" "47402620" "47402620" "subst" "0.000809799" "00430" "COL6A1_000262" "g.47402620C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982706C>A" "" "VUS" "" "0000461651" "1" "90" "21" "47409521" "47409521" "subst" "0" "00430" "COL6A1_000046" "g.47409521G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989607G>C" "" "pathogenic" "" "0000461652" "1" "90" "21" "47410685" "47410685" "del" "0" "00430" "COL6A1_000305" "g.47410685del" "" "{PMID:Nallamilli 2018:30564623}" "" "1003-2delA" "no second variant" "Germline" "" "" "0" "" "" "g.45990771del" "" "pathogenic" "" "0000461653" "1" "50" "21" "47410308" "47410308" "subst" "4.0869E-6" "00430" "COL6A1_000302" "g.47410308G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990394G>A" "" "VUS" "" "0000461654" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461655" "1" "50" "21" "47402652" "47402652" "subst" "0.000549585" "00430" "COL6A1_000155" "g.47402652C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45982738C>T" "" "VUS" "" "0000461656" "1" "50" "21" "47423451" "47423451" "subst" "1.66132E-5" "00430" "COL6A1_000356" "g.47423451G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003537G>A" "" "VUS" "" "0000461657" "1" "50" "21" "47404280" "47404280" "subst" "1.22518E-5" "00430" "COL6A1_000268" "g.47404280G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45984366G>A" "" "VUS" "" "0000461658" "1" "90" "21" "47410697" "47410697" "subst" "0" "00430" "COL6A1_000307" "g.47410697G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990783G>A" "" "pathogenic" "" "0000461659" "1" "50" "21" "47422475" "47422475" "subst" "4.06266E-6" "00430" "COL6A1_000344" "g.47422475T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002561T>C" "" "VUS" "" "0000461660" "1" "50" "21" "47407558" "47407558" "subst" "0.000107186" "00430" "COL6A1_000289" "g.47407558C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987644C>T" "" "VUS" "" "0000461661" "1" "50" "21" "47406934" "47406934" "subst" "0" "00430" "COL6A1_000280" "g.47406934G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987020G>A" "" "VUS" "" "0000461662" "1" "50" "21" "47423451" "47423451" "subst" "1.66132E-5" "00430" "COL6A1_000356" "g.47423451G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003537G>A" "" "VUS" "" "0000461663" "1" "50" "21" "47406862" "47406862" "subst" "6.71601E-5" "00430" "COL6A1_000276" "g.47406862C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986948C>T" "" "VUS" "" "0000461664" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461665" "1" "50" "21" "47423592" "47423592" "subst" "9.40564E-5" "00430" "COL6A1_000360" "g.47423592G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003678G>A" "" "VUS" "" "0000461666" "1" "90" "21" "47423032" "47423032" "subst" "0" "00430" "COL6A1_000196" "g.47423032A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.46003118A>G" "" "pathogenic" "" "0000461667" "1" "50" "21" "47406990" "47406990" "subst" "0" "00430" "COL6A1_000172" "g.47406990A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.45987076A>G" "" "VUS" "" "0000461668" "1" "50" "21" "47423649" "47423649" "subst" "0.000689655" "00430" "COL6A1_000253" "g.47423649A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003735A>G" "" "VUS" "" "0000461669" "1" "90" "21" "47409693" "47409693" "subst" "0" "00430" "COL6A1_000177" "g.47409693G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45989779G>A" "" "pathogenic" "" "0000461670" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461671" "1" "50" "21" "47401764" "47401764" "subst" "1.57608E-5" "00430" "COL6A1_000257" "g.47401764C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45981850C>T" "" "VUS" "" "0000461672" "1" "50" "21" "47406862" "47406862" "subst" "6.71601E-5" "00430" "COL6A1_000276" "g.47406862C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45986948C>T" "" "VUS" "" "0000461673" "1" "50" "21" "47410727" "47410727" "subst" "0.000605529" "00430" "COL6A1_000169" "g.47410727C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45990813C>T" "" "VUS" "" "0000461674" "1" "50" "21" "47423739" "47423739" "subst" "1.23928E-5" "00430" "COL6A1_000374" "g.47423739A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003825A>G" "" "VUS" "" "0000461675" "1" "50" "21" "47423661" "47423661" "subst" "0.000135648" "00430" "COL6A1_000365" "g.47423661C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003747C>T" "" "VUS" "" "0000461676" "1" "50" "21" "47421174" "47421174" "subst" "0" "00430" "COL6A1_000331" "g.47421174G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46001260G>T" "" "VUS" "" "0000461677" "1" "50" "21" "47423451" "47423451" "subst" "1.66132E-5" "00430" "COL6A1_000356" "g.47423451G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46003537G>A" "" "VUS" "" "0000461678" "1" "50" "21" "47422212" "47422212" "subst" "1.49964E-5" "00430" "COL6A1_000339" "g.47422212C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.46002298C>T" "" "VUS" "" "0000461679" "1" "50" "21" "47406934" "47406934" "subst" "0" "00430" "COL6A1_000280" "g.47406934G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987020G>A" "" "VUS" "" "0000461680" "1" "50" "21" "47407425" "47407425" "subst" "0.000227731" "00430" "COL6A1_000285" "g.47407425G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.45987511G>A" "" "VUS" "" "0000473836" "3" "90" "21" "47418866" "47418866" "subst" "0" "03259" "COL6A1_000382" "g.47418866G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45998952G>T" "" "likely pathogenic (recessive)" "" "0000570969" "0" "30" "21" "47402555" "47402555" "subst" "0.00123775" "01943" "COL6A1_000055" "g.47402555C>G" "" "" "" "COL6A1(NM_001848.2):c.105C>G (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45982641C>G" "" "likely benign" "" "0000570970" "0" "10" "21" "47404336" "47404336" "subst" "0.000187907" "02330" "COL6A1_000383" "g.47404336C>T" "" "" "" "COL6A1(NM_001848.3):c.381C>T (p.T127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45984422C>T" "" "benign" "" "0000570971" "0" "10" "21" "47406618" "47406618" "dup" "0" "02330" "COL6A1_000065" "g.47406618dup" "" "" "" "COL6A1(NM_001848.2):c.588+12dup (p.(=)), COL6A1(NM_001848.3):c.588+19dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45986704dup" "" "benign" "" "0000570972" "0" "30" "21" "47406851" "47406851" "subst" "0" "01804" "COL6A1_000384" "g.47406851C>G" "" "" "" "COL6A1(NM_001848.2):c.589-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45986937C>G" "" "likely benign" "" "0000570973" "0" "30" "21" "47406935" "47406935" "subst" "0.000201824" "01943" "COL6A1_000385" "g.47406935C>T" "" "" "" "COL6A1(NM_001848.2):c.666C>T (p.R222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45987021C>T" "" "likely benign" "" "0000570975" "0" "50" "21" "47407573" "47407573" "subst" "0" "02327" "COL6A1_000386" "g.47407573G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45987659G>A" "" "VUS" "" "0000570976" "0" "70" "21" "47408999" "47408999" "subst" "0" "02327" "COL6A1_000387" "g.47408999G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989085G>A" "" "likely pathogenic" "" "0000570977" "0" "90" "21" "47409550" "47409550" "subst" "0" "02327" "COL6A1_000388" "g.47409550G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989636G>A" "" "pathogenic" "" "0000570978" "0" "70" "21" "47409656" "47409656" "subst" "0" "02327" "COL6A1_000176" "g.47409656G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989742G>A" "" "likely pathogenic" "" "0000570979" "0" "70" "21" "47410173" "47410173" "subst" "0" "02327" "COL6A1_000389" "g.47410173G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45990259G>T" "" "likely pathogenic" "" "0000570980" "0" "90" "21" "47410290" "47410290" "subst" "0" "02327" "COL6A1_000390" "g.47410290A>G" "" "" "" "COL6A1(NM_001848.2):c.958-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45990376A>G" "" "pathogenic" "" "0000570981" "0" "30" "21" "47410342" "47410424" "del" "0" "02326" "COL6A1_000391" "g.47410342_47410424del" "" "" "" "COL6A1(NM_001848.2):c.988_1002+68del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45990428_45990510del" "" "likely benign" "" "0000570982" "0" "30" "21" "47410740" "47410740" "subst" "0.00121926" "01804" "COL6A1_000086" "g.47410740C>T" "" "" "" "COL6A1(NM_001848.2):c.1056C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45990826C>T" "" "likely benign" "" "0000570983" "0" "50" "21" "47410932" "47410932" "subst" "0.000223639" "01943" "COL6A1_000313" "g.47410932G>A" "" "" "" "COL6A1(NM_001848.2):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45991018G>A" "" "VUS" "" "0000570984" "0" "30" "21" "47410943" "47410943" "subst" "8.13359E-6" "01943" "COL6A1_000392" "g.47410943G>A" "" "" "" "COL6A1(NM_001848.2):c.1107G>A (p.L369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45991029G>A" "" "likely benign" "" "0000570986" "0" "30" "21" "47414095" "47414095" "subst" "0.000414773" "01804" "COL6A1_000093" "g.47414095G>A" "" "" "" "COL6A1(NM_001848.2):c.1350G>A (p.(Pro450=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45994181G>A" "" "likely benign" "" "0000570987" "0" "50" "21" "47414120" "47414120" "subst" "0" "02327" "COL6A1_000394" "g.47414120C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45994206C>T" "" "VUS" "" "0000570988" "0" "30" "21" "47417332" "47417332" "subst" "0.000268439" "01943" "COL6A1_000314" "g.47417332C>T" "" "" "" "COL6A1(NM_001848.2):c.1399-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45997418C>T" "" "likely benign" "" "0000570989" "0" "30" "21" "47420667" "47420667" "subst" "0.0101568" "01804" "COL6A1_000112" "g.47420667C>G" "" "" "" "COL6A1(NM_001848.2):c.1814-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46000753C>G" "" "likely benign" "" "0000570992" "0" "10" "21" "47421315" "47421315" "subst" "0.526264" "02330" "COL6A1_000121" "g.47421315C>T" "" "" "" "COL6A1(NM_001848.3):c.1956+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46001401C>T" "" "benign" "" "0000570993" "0" "10" "21" "47421864" "47421864" "subst" "0.363851" "02330" "COL6A1_000122" "g.47421864C>T" "" "" "" "COL6A1(NM_001848.3):c.1957-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46001950C>T" "" "benign" "" "0000570995" "0" "30" "21" "47422195" "47422195" "subst" "0.00411076" "01804" "COL6A1_000128" "g.47422195G>A" "" "" "" "COL6A1(NM_001848.2):c.2130G>A (p.(Thr710=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46002281G>A" "" "likely benign" "" "0000570997" "0" "50" "21" "47422538" "47422538" "subst" "0.000585252" "01804" "COL6A1_000131" "g.47422538G>A" "" "" "" "COL6A1(NM_001848.2):c.2348G>A (p.(Arg783Gln), p.R783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46002624G>A" "" "VUS" "" "0000570999" "0" "30" "21" "47422614" "47422614" "subst" "0.0185197" "01804" "COL6A1_000044" "g.47422614G>T" "" "" "" "COL6A1(NM_001848.2):c.2424G>T (p.(Gln808His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46002700G>T" "" "likely benign" "" "0000571001" "0" "30" "21" "47422639" "47422678" "del" "0.000757883" "01804" "COL6A1_000400" "g.47422639_47422678del" "" "" "" "COL6A1(NM_001848.2):c.2434+15_2434+54del, COL6A1(NM_001848.2):c.2434+15_2434+54del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46002725_46002764del" "" "likely benign" "" "0000571002" "0" "30" "21" "47423360" "47423360" "subst" "0" "01804" "COL6A1_000250" "g.47423360G>A" "" "" "" "COL6A1(NM_001848.2):c.2520G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003446G>A" "" "likely benign" "" "0000571003" "0" "30" "21" "47423475" "47423475" "subst" "0.00185286" "01804" "COL6A1_000401" "g.47423475A>G" "" "" "" "COL6A1(NM_001848.2):c.2635A>G (p.S879G, p.(Ser879Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003561A>G" "" "likely benign" "" "0000571005" "0" "10" "21" "47423509" "47423509" "subst" "0.161847" "02330" "COL6A1_000034" "g.47423509C>T" "" "" "" "COL6A1(NM_001848.3):c.2669C>T (p.S890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003595C>T" "" "benign" "" "0000571007" "0" "30" "21" "47423623" "47423623" "subst" "0.00198801" "01804" "COL6A1_000143" "g.47423623G>A" "" "" "" "COL6A1(NM_001848.2):c.2783G>A (p.(Arg928His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003709G>A" "" "likely benign" "" "0000571008" "0" "30" "21" "47423637" "47423637" "subst" "0.000172393" "01943" "COL6A1_000402" "g.47423637G>A" "" "" "" "COL6A1(NM_001848.2):c.2797G>A (p.G933S, p.(Gly933Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003723G>A" "" "likely benign" "" "0000571011" "0" "30" "21" "47423696" "47423696" "subst" "0.000251271" "01943" "COL6A1_000367" "g.47423696C>T" "" "" "" "COL6A1(NM_001848.2):c.2856C>T (p.P952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003782C>T" "" "likely benign" "" "0000571014" "0" "30" "21" "47423713" "47423713" "subst" "9.06394E-5" "01804" "COL6A1_000370" "g.47423713C>A" "" "" "" "COL6A1(NM_001848.2):c.2873C>A (p.A958D, p.(Ala958Asp)), COL6A1(NM_001848.3):c.2873C>A (p.A958D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003799C>A" "" "likely benign" "" "0000571015" "0" "10" "21" "47424346" "47424346" "subst" "0" "02330" "COL6A1_000404" "g.47424346A>G" "" "" "" "COL6A1(NM_001848.2):c.*419A>G, COL6A1(NM_001848.3):c.*419A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46004432A>G" "" "benign" "" "0000597748" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597749" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597750" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597751" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597752" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597753" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597754" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597755" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597756" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597757" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597758" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597759" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597760" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597761" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597762" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597763" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597764" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597765" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597766" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597767" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597768" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Cummings 2017:28424332}, {PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597769" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597770" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597771" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597772" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597773" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597774" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597775" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597776" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597777" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597778" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597779" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597780" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597781" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000597782" "1" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Bolduc 2019:30895940}" "" "" "" "Germline" "" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "" "0000618416" "0" "50" "21" "47421256" "47421256" "subst" "8.16087E-6" "02326" "COL6A1_000405" "g.47421256G>A" "" "" "" "COL6A1(NM_001848.2):c.1912G>A (p.(Val638Ile), p.V638I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46001342G>A" "" "VUS" "" "0000618417" "0" "30" "21" "47423040" "47423040" "subst" "0.0287437" "01804" "COL6A1_000138" "g.47423040A>G" "" "" "" "COL6A1(NM_001848.2):c.2441A>G (p.(Lys814Arg), p.K814R), COL6A1(NM_001848.3):c.2441A>G (p.K814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46003126A>G" "" "likely benign" "" "0000629460" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Reddy 2017:27708273}" "" "" "" "De novo" "" "rs121912939" "0" "" "" "g.45989617G>A" "" "pathogenic (dominant)" "" "0000629489" "1" "70" "21" "47406477" "47406477" "subst" "0" "00006" "COL6A1_000406" "g.47406477G>T" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "" "0" "" "" "g.45986563G>T" "" "likely pathogenic (dominant)" "" "0000629562" "1" "70" "21" "47404384" "47404384" "subst" "0" "00006" "COL6A1_000408" "g.47404384G>T" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.45984470G>T" "" "likely pathogenic (dominant)" "" "0000629563" "1" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000409" "g.47410741G>T" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990827G>T" "" "likely pathogenic (dominant)" "" "0000629564" "1" "70" "21" "47409017" "47409017" "subst" "0" "00006" "COL6A1_000145" "g.47409017G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989103G>A" "" "likely pathogenic (dominant)" "" "0000629565" "1" "70" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989626G>A" "" "likely pathogenic (dominant)" "" "0000629566" "1" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic (dominant)" "" "0000629567" "1" "70" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989617G>A" "" "likely pathogenic (dominant)" "" "0000629568" "1" "70" "21" "47410742" "47410742" "dup" "0" "00006" "COL6A1_000407" "g.47410742dup" "1/209 cases" "{PMID:Park 2017:27363342}" "" "1056+2->T" "description variant corrected after contact with authors" "Germline" "" "" "0" "" "" "g.45990828dup" "" "likely pathogenic (dominant)" "" "0000629569" "1" "70" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000028" "g.47409531G>C" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>C" "" "likely pathogenic (dominant)" "" "0000629654" "1" "70" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "two genetic etiologies" "Germline" "" "" "0" "" "" "g.45989626G>A" "" "likely pathogenic" "" "0000645295" "0" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Lee 2019:31607746}" "" "" "pseudo exon creation" "De novo" "" "" "0" "" "" "g.45989967C>T" "{CV:000837714.1}" "pathogenic (dominant)" "" "0000645326" "0" "90" "21" "47409881" "47409881" "subst" "0" "00006" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Lee 2019:31607746}" "" "" "pseudo exon creation" "De novo" "" "" "0" "" "" "g.45989967C>T" "{CV:000837714.1}" "pathogenic (dominant)" "" "0000646801" "1" "50" "21" "47417361" "47417361" "del" "0" "00006" "COL6A1_000315" "g.47417361del" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45997447del" "" "VUS" "" "0000646816" "0" "50" "21" "47419108" "47419108" "del" "0" "00006" "COL6A1_000410" "g.47419108del" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45999194del" "" "VUS" "" "0000650887" "1" "50" "21" "47419100" "47419100" "subst" "0.00015451" "03575" "COL6A1_000325" "g.47419100G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs144358858}" "Germline" "" "rs144358858" "0" "" "" "g.45999186G>A" "" "VUS" "" "0000650888" "1" "10" "21" "47421136" "47421136" "subst" "0.0266196" "03575" "COL6A1_000118" "g.47421136C>T" "59/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "59 heterozygous; {DB:CLININrs117330552}" "Germline" "" "rs117330552" "0" "" "" "g.46001222C>T" "" "benign" "" "0000650889" "1" "30" "21" "47421870" "47421870" "subst" "0.0172374" "03575" "COL6A1_000123" "g.47421870C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs78224483}" "Germline" "" "rs78224483" "0" "" "" "g.46001956C>T" "" "likely benign" "" "0000653046" "1" "10" "21" "47423623" "47423623" "subst" "0.00198801" "03575" "COL6A1_000143" "g.47423623G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144671871}" "Germline" "" "rs144671871" "0" "" "" "g.46003709G>A" "" "benign" "" "0000660688" "0" "50" "21" "47421169" "47421169" "subst" "1.66027E-5" "01164" "COL6A1_000411" "g.47421169T>C" "" "" "" "" "" "Germline" "" "rs763495943" "0" "" "" "g.46001255T>C" "" "VUS" "" "0000665801" "0" "70" "21" "47409694" "47409694" "subst" "0" "01164" "COL6A1_000412" "g.47409694T>C" "" "" "" "" "Donkervoort et al. 2015. Hum Mutat 36: 48" "Germline" "" "" "0" "" "" "g.45989780T>C" "" "likely pathogenic" "" "0000669698" "3" "10" "21" "47421136" "47421136" "subst" "0.0266196" "03575" "COL6A1_000118" "g.47421136C>T" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs117330552}" "Germline" "" "rs117330552" "0" "" "" "g.46001222C>T" "" "benign" "" "0000670714" "1" "50" "21" "47423577" "47423577" "subst" "8.18585E-6" "00006" "COL6A1_000414" "g.47423577G>A" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.46003663G>A" "" "VUS" "" "0000670733" "1" "50" "21" "47409035" "47409035" "subst" "0" "00006" "COL6A1_000048" "g.47409035G>A" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.45989121G>A" "" "VUS" "" "0000670777" "0" "90" "21" "47418311" "47418311" "subst" "0" "00006" "COL6A1_000413" "g.47418311G>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "De novo" "" "" "0" "" "" "g.45998397G>T" "" "pathogenic (dominant)" "" "0000675285" "0" "90" "21" "47409043" "47409043" "subst" "0" "00534" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "ACMG" "0000675318" "0" "70" "21" "47409668" "47409682" "dup" "0" "00534" "COL6A1_000415" "g.47409668_47409682dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.45989754_45989768dup" "" "likely pathogenic" "ACMG" "0000675346" "0" "70" "21" "47409668" "47409682" "dup" "0" "00534" "COL6A1_000415" "g.47409668_47409682dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.45989754_45989768dup" "" "likely pathogenic (dominant)" "ACMG" "0000675347" "0" "70" "21" "47410321" "47410329" "del" "0" "00534" "COL6A1_000416" "g.47410321_47410329del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.45990407_45990415del" "" "likely pathogenic" "ACMG" "0000681751" "0" "90" "21" "47410741" "47410741" "subst" "0" "02326" "COL6A1_000015" "g.47410741G>A" "" "" "" "COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681752" "0" "50" "21" "47422550" "47422550" "subst" "4.06633E-6" "01804" "COL6A1_000348" "g.47422550C>T" "" "" "" "COL6A1(NM_001848.2):c.2360C>T (p.(Ser787Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693075" "0" "30" "21" "47412744" "47412744" "subst" "0.000850122" "02326" "COL6A1_000417" "g.47412744G>C" "" "" "" "COL6A1(NM_001848.2):c.1335+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693076" "0" "30" "21" "47418805" "47418805" "subst" "0.000580349" "02326" "COL6A1_000106" "g.47418805C>T" "" "" "" "COL6A1(NM_001848.2):c.1612-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693077" "0" "30" "21" "47423637" "47423637" "subst" "0.000172393" "01804" "COL6A1_000402" "g.47423637G>A" "" "" "" "COL6A1(NM_001848.2):c.2797G>A (p.G933S, p.(Gly933Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697406" "0" "70" "21" "47406990" "47406990" "subst" "0" "00006" "COL6A1_000172" "g.47406990A>G" "3/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45987076A>G" "" "likely pathogenic" "" "0000697407" "0" "70" "21" "47409008" "47409008" "subst" "0" "00006" "COL6A1_000025" "g.47409008G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989094G>A" "" "likely pathogenic" "" "0000697408" "0" "70" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "likely pathogenic" "" "0000697409" "0" "70" "21" "47409549" "47409549" "subst" "0" "00006" "COL6A1_000200" "g.47409549G>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989635G>C" "" "likely pathogenic" "" "0000697410" "0" "70" "21" "47409555" "47409555" "subst" "0" "00006" "COL6A1_000197" "g.47409555C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989641C>A" "" "likely pathogenic" "" "0000697411" "0" "70" "21" "47409559" "47409559" "subst" "0" "00006" "COL6A1_000198" "g.47409559G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989645G>A" "" "likely pathogenic" "" "0000697412" "0" "70" "21" "47409667" "47409667" "subst" "0" "00006" "COL6A1_000151" "g.47409667G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45989753G>A" "" "likely pathogenic" "" "0000697413" "0" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic" "" "0000697414" "0" "70" "21" "47421199" "47421199" "subst" "8.18746E-6" "00006" "COL6A1_000199" "g.47421199G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.46001285G>T" "" "likely pathogenic" "" "0000697415" "0" "70" "21" "47423032" "47423032" "subst" "0" "00006" "COL6A1_000196" "g.47423032A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.46003118A>G" "" "likely pathogenic" "" "0000697416" "0" "70" "21" "47423661" "47423661" "subst" "0" "00006" "COL6A1_000418" "g.47423661C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.46003747C>A" "" "likely pathogenic" "" "0000698275" "0" "70" "21" "47423838" "47423838" "subst" "0" "03779" "COL6A1_000419" "g.47423838G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs201456885" "0" "" "" "" "" "likely pathogenic" "" "0000699704" "0" "30" "21" "47412687" "47412687" "subst" "0.00245665" "00006" "COL6A1_000237" "g.47412687G>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000727958" "0" "50" "21" "47402545" "47402545" "subst" "0" "02329" "COL6A1_000259" "g.47402545C>G" "" "" "" "COL6A1(NM_001848.3):c.98-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727959" "0" "30" "21" "47402555" "47402555" "subst" "0.00123775" "02326" "COL6A1_000055" "g.47402555C>G" "" "" "" "COL6A1(NM_001848.2):c.105C>G (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727960" "0" "50" "21" "47402620" "47402620" "subst" "0.000809799" "02329" "COL6A1_000262" "g.47402620C>A" "" "" "" "COL6A1(NM_001848.2):c.170C>A (p.(Ala57Asp)), COL6A1(NM_001848.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727961" "0" "90" "21" "47404384" "47404384" "subst" "0" "02329" "COL6A1_000003" "g.47404384G>A" "" "" "" "COL6A1(NM_001848.3):c.428+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727962" "0" "50" "21" "47406936" "47406936" "subst" "8.06853E-5" "02329" "COL6A1_000281" "g.47406936G>A" "" "" "" "COL6A1(NM_001848.3):c.667G>A (p.D223N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727963" "0" "70" "21" "47407412" "47407412" "subst" "0" "02327" "COL6A1_000023" "g.47407412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727964" "0" "70" "21" "47409540" "47409540" "subst" "0" "02330" "COL6A1_000053" "g.47409540G>A" "" "" "" "COL6A1(NM_001848.3):c.877G>A (p.G293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727965" "0" "90" "21" "47409540" "47409540" "subst" "0" "02329" "COL6A1_000053" "g.47409540G>A" "" "" "" "COL6A1(NM_001848.3):c.877G>A (p.G293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727967" "0" "50" "21" "47410330" "47410330" "subst" "0.00037983" "02329" "COL6A1_000303" "g.47410330C>T" "" "" "" "COL6A1(NM_001848.3):c.996C>T (p.G332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727968" "0" "50" "21" "47410727" "47410727" "subst" "0.000605529" "02329" "COL6A1_000169" "g.47410727C>T" "" "" "" "COL6A1(NM_001848.3):c.1043C>T (p.S348L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727969" "0" "90" "21" "47410741" "47410741" "subst" "0" "02329" "COL6A1_000015" "g.47410741G>A" "" "" "" "COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727970" "0" "50" "21" "47410951" "47410951" "subst" "0.000296931" "02329" "COL6A1_000211" "g.47410951A>G" "" "" "" "COL6A1(NM_001848.3):c.1115A>G (p.E372G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727971" "0" "50" "21" "47411927" "47411927" "subst" "0" "02329" "COL6A1_000393" "g.47411927G>A" "" "" "" "COL6A1(NM_001848.3):c.1123G>A (p.E375K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727972" "0" "30" "21" "47421154" "47421154" "subst" "0.00136337" "02326" "COL6A1_000242" "g.47421154C>T" "" "" "" "COL6A1(NM_001848.2):c.1823-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727973" "0" "50" "21" "47421900" "47421900" "subst" "2.08807E-5" "02329" "COL6A1_000221" "g.47421900G>A" "" "" "" "COL6A1(NM_001848.3):c.1982G>A (p.G661D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727974" "0" "50" "21" "47422265" "47422265" "subst" "0.000103223" "02327" "COL6A1_000420" "g.47422265A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727975" "0" "50" "21" "47422601" "47422601" "subst" "0" "02329" "COL6A1_000398" "g.47422601A>C" "" "" "" "COL6A1(NM_001848.3):c.2411A>C (p.N804T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727976" "0" "50" "21" "47423445" "47423445" "subst" "0" "01804" "COL6A1_000421" "g.47423445C>T" "" "" "" "COL6A1(NM_001848.2):c.2605C>T (p.(His869Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727977" "0" "30" "21" "47423475" "47423475" "subst" "0.00185286" "01943" "COL6A1_000401" "g.47423475A>G" "" "" "" "COL6A1(NM_001848.2):c.2635A>G (p.S879G, p.(Ser879Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727978" "0" "50" "21" "47423482" "47423482" "subst" "0.000681953" "02329" "COL6A1_000358" "g.47423482C>T" "" "" "" "COL6A1(NM_001848.2):c.2642C>T (p.(Thr881Met)), COL6A1(NM_001848.3):c.2642C>T (p.T881M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727979" "0" "50" "21" "47423649" "47423649" "subst" "0.000689655" "02329" "COL6A1_000253" "g.47423649A>G" "" "" "" "COL6A1(NM_001848.2):c.2809A>G (p.(Lys937Glu)), COL6A1(NM_001848.3):c.2809A>G (p.K937E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727980" "0" "50" "21" "47423713" "47423713" "subst" "9.06394E-5" "01943" "COL6A1_000370" "g.47423713C>A" "" "" "" "COL6A1(NM_001848.2):c.2873C>A (p.A958D, p.(Ala958Asp)), COL6A1(NM_001848.3):c.2873C>A (p.A958D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727981" "0" "50" "21" "47423713" "47423713" "subst" "9.06394E-5" "02329" "COL6A1_000370" "g.47423713C>A" "" "" "" "COL6A1(NM_001848.2):c.2873C>A (p.A958D, p.(Ala958Asp)), COL6A1(NM_001848.3):c.2873C>A (p.A958D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763682" "0" "90" "21" "47417648" "47417648" "dup" "0" "04047" "COL6A1_000422" "g.47417648dup" "" "{PMID:Saat 2021:33963534}" "" "g.15993_15994insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45997734dup" "" "pathogenic (dominant)" "" "0000765171" "0" "70" "21" "47410687" "47410687" "subst" "0" "00454" "COL6A1_000423" "g.47410687G>T" "" "Luce 2021, submitted" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000786820" "3" "70" "21" "47404252" "47404252" "del" "0" "00006" "COL6A1_000426" "g.47404252del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45984338del" "" "likely pathogenic" "" "0000786821" "0" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic" "" "0000786822" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000786823" "0" "70" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45989626G>A" "" "likely pathogenic" "" "0000786824" "3" "70" "21" "47419066" "47419066" "subst" "0" "00006" "COL6A1_000427" "g.47419066G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs112965881" "0" "" "" "g.45999152G>C" "" "likely pathogenic" "" "0000787244" "0" "50" "21" "47402675" "47402675" "subst" "0" "00006" "COL6A1_000424" "g.47402675C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45982761C>T" "" "VUS" "" "0000787245" "0" "50" "21" "47404217" "47404217" "subst" "8.72028E-5" "00006" "COL6A1_000425" "g.47404217G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs540429266" "0" "" "" "g.45984303G>A" "" "VUS" "" "0000791279" "0" "70" "21" "47418078" "47418078" "subst" "0" "03779" "COL6A1_000240" "g.47418078G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000809438" "0" "50" "21" "47414140" "47414140" "subst" "0" "02329" "COL6A1_000428" "g.47414140C>A" "" "" "" "COL6A1(NM_001848.2):c.1395C>A (p.(Asp465Glu)), COL6A1(NM_001848.3):c.1395C>A (p.D465E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809439" "0" "70" "21" "47418086" "47418086" "subst" "0" "01943" "COL6A1_000429" "g.47418086G>A" "" "" "" "COL6A1(NM_001848.2):c.1575+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000819180" "3" "70" "21" "47423661" "47423673" "del" "0" "00006" "COL6A1_000431" "g.47423661_47423673del" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.46003747_46003759del" "" "likely pathogenic (recessive)" "ACMG" "0000819181" "0" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic (dominant)" "ACMG" "0000819211" "3" "50" "21" "47421192" "47421194" "del" "0" "00006" "COL6A1_000430" "g.47421192_47421194del" "" "{PMID:Chakravorty 2020:33250842}" "" "c.1848_1850delCCT" "" "Germline" "" "" "0" "" "" "g.46001278_46001280del" "" "VUS" "ACMG" "0000823839" "0" "50" "21" "47417336" "47417336" "subst" "0" "03501" "COL6A1_000433" "g.47417336G>C" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "Novel variant (2021)" "Germline/De novo (untested)" "" "" "0" "" "" "g.45997422G>C" "" "VUS" "" "0000823853" "0" "50" "21" "47423035" "47423035" "subst" "0" "03501" "COL6A1_000434" "g.47423035C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "Novel variant (2021)" "Germline/De novo (untested)" "" "" "0" "" "" "g.46003121C>T" "" "VUS" "" "0000823872" "0" "70" "21" "47410706" "47410706" "subst" "0" "03501" "COL6A1_000013" "g.47410706G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990792G>A" "" "likely pathogenic" "" "0000823873" "0" "50" "21" "47422538" "47422538" "subst" "0.000585252" "03501" "COL6A1_000131" "g.47422538G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46002624G>A" "" "VUS" "" "0000823882" "0" "50" "21" "47410313" "47410313" "subst" "2.9099E-5" "03501" "COL6A1_000432" "g.47410313A>G" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "Novel variant (2021)" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990399A>G" "" "VUS" "" "0000823887" "0" "70" "21" "47409690" "47409692" "del" "0" "03501" "COL6A1_000029" "g.47409690_47409692del" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989776_45989778del" "" "likely pathogenic" "" "0000823953" "0" "70" "21" "47419593" "47419593" "subst" "4.08047E-5" "03501" "COL6A1_000148" "g.47419593C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45999679C>T" "" "likely pathogenic" "" "0000823955" "0" "70" "21" "47419593" "47419593" "subst" "4.08047E-5" "03501" "COL6A1_000148" "g.47419593C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45999679C>T" "" "likely pathogenic" "" "0000831320" "3" "50" "21" "47419593" "47419593" "subst" "4.08047E-5" "00006" "COL6A1_000148" "g.47419593C>T" "" "{PMID:Patel 2021:34925456}" "" "" "" "Germline" "" "rs759442615" "0" "" "" "g.45999679C>T" "" "VUS" "" "0000831327" "0" "90" "21" "47409008" "47409008" "subst" "0" "00006" "COL6A1_000025" "g.47409008G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989094G>A" "" "pathogenic (dominant)" "" "0000831328" "0" "70" "21" "47409026" "47409026" "subst" "0" "00006" "COL6A1_000291" "g.47409026G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989112G>A" "" "likely pathogenic (dominant)" "" "0000831329" "0" "70" "21" "47409026" "47409026" "subst" "0" "00006" "COL6A1_000439" "g.47409026G>T" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989112G>T" "" "likely pathogenic (dominant)" "" "0000831330" "0" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Zhang 2014:24801232}, {PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "" "0000831331" "0" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "" "0000831332" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic (dominant)" "" "0000831333" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic (dominant)" "" "0000831334" "0" "70" "21" "47409549" "47409549" "subst" "0" "00006" "COL6A1_000440" "g.47409549G>T" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989635G>T" "" "likely pathogenic (dominant)" "" "0000831335" "0" "90" "21" "47409550" "47409550" "subst" "0" "00006" "COL6A1_000152" "g.47409550G>T" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989636G>T" "" "pathogenic (dominant)" "" "0000831336" "0" "90" "21" "47410199" "47410199" "subst" "0" "00006" "COL6A1_000011" "g.47410199G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45990285G>A" "" "pathogenic (dominant)" "" "0000831367" "21" "70" "21" "47402562" "47402579" "del" "0" "00006" "COL6A1_000436" "g.47402562_47402579del" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45982648_45982665del" "" "likely pathogenic (dominant)" "" "0000831368" "21" "70" "21" "47402562" "47402579" "del" "0" "00006" "COL6A1_000436" "g.47402562_47402579del" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45982648_45982665del" "" "likely pathogenic (dominant)" "" "0000831369" "0" "70" "21" "47404335" "47404335" "subst" "0" "00006" "COL6A1_000437" "g.47404335C>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45984421C>A" "" "likely pathogenic (dominant)" "" "0000831370" "21" "70" "21" "47408997" "47408997" "subst" "0" "00006" "COL6A1_000438" "g.47408997G>C" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45989083G>C" "" "likely pathogenic (dominant)" "" "0000831371" "21" "70" "21" "47409521" "47409521" "subst" "0" "00006" "COL6A1_000046" "g.47409521G>C" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45989607G>C" "" "likely pathogenic (dominant)" "" "0000831372" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic (dominant)" "" "0000831374" "0" "90" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989626G>A" "" "pathogenic (dominant)" "" "0000831375" "0" "70" "21" "47409567" "47409567" "subst" "0" "00006" "COL6A1_000441" "g.47409567G>T" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989653G>T" "" "likely pathogenic (dominant)" "" "0000831376" "11" "70" "21" "47410170" "47410170" "subst" "0" "00006" "COL6A1_000435" "g.47410170A>C" "" "{PMID:Fan 2018:29419890}" "" "" "father shows low level somatic mosaicism for variant" "De novo" "" "" "0" "" "" "g.45990256A>C" "" "likely pathogenic (dominant)" "" "0000831377" "21" "70" "21" "47410203" "47410203" "subst" "0" "00006" "COL6A1_000442" "g.47410203G>T" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45990289G>T" "" "likely pathogenic (dominant)" "" "0000831378" "21" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic (dominant)" "" "0000831379" "0" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic (dominant)" "" "0000831380" "0" "90" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic (dominant)" "" "0000831381" "0" "70" "21" "47410745" "47410745" "subst" "0" "00006" "COL6A1_000179" "g.47410745G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45990831G>A" "" "likely pathogenic (dominant)" "" "0000833040" "1" "70" "21" "47404317" "47404317" "subst" "0" "00006" "COL6A1_000002" "g.47404317A>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45984403A>G" "" "likely pathogenic" "" "0000833065" "1" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic" "" "0000833068" "1" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic" "" "0000833085" "1" "70" "21" "47406990" "47406990" "subst" "0" "00006" "COL6A1_000172" "g.47406990A>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45987076A>G" "" "likely pathogenic" "" "0000833116" "3" "70" "21" "47409010" "47409010" "subst" "0" "00006" "COL6A1_000443" "g.47409010A>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45989096A>T" "" "likely pathogenic" "" "0000833166" "1" "70" "21" "47410741" "47410741" "subst" "0" "00006" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "likely pathogenic" "" "0000855999" "0" "50" "21" "47402620" "47402620" "subst" "0.000809799" "02325" "COL6A1_000262" "g.47402620C>A" "" "" "" "COL6A1(NM_001848.2):c.170C>A (p.(Ala57Asp)), COL6A1(NM_001848.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856000" "0" "10" "21" "47404043" "47404043" "subst" "0" "02326" "COL6A1_000444" "g.47404043G>C" "" "" "" "COL6A1(NM_001848.2):c.228-140G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856001" "0" "10" "21" "47404423" "47404423" "subst" "0.0479629" "02326" "COL6A1_000059" "g.47404423G>A" "" "" "" "COL6A1(NM_001848.2):c.428+40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856002" "0" "30" "21" "47406914" "47406914" "subst" "0.00239536" "01804" "COL6A1_000067" "g.47406914G>A" "" "" "" "COL6A1(NM_001848.2):c.645G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856003" "0" "10" "21" "47407362" "47407362" "subst" "0" "02326" "COL6A1_000070" "g.47407362C>T" "" "" "" "COL6A1(NM_001848.2):c.739-51C>T, COL6A1(NM_001848.3):c.739-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856004" "0" "10" "21" "47408790" "47408790" "subst" "0" "02326" "COL6A1_000447" "g.47408790G>C" "" "" "" "COL6A1(NM_001848.2):c.805-208G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856005" "0" "10" "21" "47409113" "47409113" "subst" "0" "02326" "COL6A1_000194" "g.47409113C>T" "" "" "" "COL6A1(NM_001848.2):c.858+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856006" "0" "30" "21" "47409502" "47409502" "subst" "0.002847" "01804" "COL6A1_000072" "g.47409502C>T" "" "" "" "COL6A1(NM_001848.2):c.859-20C>T (p.(=)), COL6A1(NM_001848.3):c.859-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856007" "0" "10" "21" "47409580" "47409580" "subst" "0.183484" "02326" "COL6A1_000075" "g.47409580C>A" "" "" "" "COL6A1(NM_001848.2):c.903+14C>A, COL6A1(NM_001848.3):c.903+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856008" "0" "30" "21" "47410275" "47410275" "subst" "0.00279671" "01804" "COL6A1_000076" "g.47410275G>A" "" "" "" "COL6A1(NM_001848.2):c.958-17G>A (p.(=)), COL6A1(NM_001848.3):c.958-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856009" "0" "10" "21" "47410626" "47410626" "subst" "0" "02326" "COL6A1_000195" "g.47410626T>G" "" "" "" "COL6A1(NM_001848.2):c.1003-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856010" "0" "10" "21" "47412751" "47412751" "subst" "0.861111" "02326" "COL6A1_000092" "g.47412751A>C" "" "" "" "COL6A1(NM_001848.2):c.1335+27A>C, COL6A1(NM_001848.3):c.1335+27A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856011" "0" "10" "21" "47413929" "47413929" "subst" "0" "02326" "COL6A1_000449" "g.47413929G>T" "" "" "" "COL6A1(NM_001848.2):c.1336-152G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856012" "0" "10" "21" "47417303" "47417303" "subst" "0.54761" "02326" "COL6A1_000095" "g.47417303T>C" "" "" "" "COL6A1(NM_001848.2):c.1399-32T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856013" "0" "30" "21" "47417379" "47417379" "subst" "0.00323863" "01804" "COL6A1_000096" "g.47417379G>A" "" "" "" "COL6A1(NM_001848.2):c.1443G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856014" "0" "10" "21" "47417438" "47417438" "dup" "0" "02326" "COL6A1_000098" "g.47417438dup" "" "" "" "COL6A1(NM_001848.2):c.1461+41dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856015" "0" "10" "21" "47417578" "47417578" "subst" "0.287287" "02326" "COL6A1_000099" "g.47417578A>G" "" "" "" "COL6A1(NM_001848.2):c.1462-36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856016" "0" "10" "21" "47417975" "47417975" "subst" "0" "02326" "COL6A1_000104" "g.47417975A>G" "" "" "" "COL6A1(NM_001848.2):c.1525-60A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856017" "0" "10" "21" "47418234" "47418234" "subst" "0" "02326" "COL6A1_000450" "g.47418234G>C" "" "" "" "COL6A1(NM_001848.2):c.1576-78G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856018" "0" "10" "21" "47418564" "47418564" "subst" "0" "02326" "COL6A1_000451" "g.47418564T>C" "" "" "" "COL6A1(NM_001848.2):c.1611+217T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856019" "0" "10" "21" "47418731" "47418731" "dup" "0" "02326" "COL6A1_000193" "g.47418731dup" "" "" "" "COL6A1(NM_001848.2):c.1612-80dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856020" "0" "10" "21" "47419012" "47419012" "subst" "0" "02326" "COL6A1_000108" "g.47419012C>T" "" "" "" "COL6A1(NM_001848.2):c.1675-55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856021" "0" "50" "21" "47419116" "47419116" "subst" "0" "02327" "COL6A1_000326" "g.47419116G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856022" "0" "10" "21" "47419697" "47419697" "subst" "0" "02326" "COL6A1_000452" "g.47419697C>T" "" "" "" "COL6A1(NM_001848.2):c.1776+91C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856023" "0" "10" "21" "47420418" "47420418" "subst" "0" "02326" "COL6A1_000453" "g.47420418C>T" "" "" "" "COL6A1(NM_001848.2):c.1813+137C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856024" "0" "10" "21" "47420567" "47420583" "del" "0" "02326" "COL6A1_000454" "g.47420567_47420583del" "" "" "" "COL6A1(NM_001848.2):c.1814-106_1814-90delGAGGGCGGCCGGGGAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856025" "0" "10" "21" "47420723" "47420723" "subst" "0.281217" "02326" "COL6A1_000113" "g.47420723G>C" "" "" "" "COL6A1(NM_001848.2):c.1822+42G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856026" "0" "10" "21" "47420726" "47420726" "subst" "0.854056" "02326" "COL6A1_000114" "g.47420726C>G" "" "" "" "COL6A1(NM_001848.2):c.1822+45C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856027" "0" "10" "21" "47420769" "47420769" "subst" "0" "02326" "COL6A1_000117" "g.47420769A>G" "" "" "" "COL6A1(NM_001848.2):c.1822+88A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856028" "0" "10" "21" "47422712" "47422712" "subst" "0" "02326" "COL6A1_000189" "g.47422712C>T" "" "" "" "COL6A1(NM_001848.2):c.2434+88C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856029" "0" "10" "21" "47423133" "47423133" "subst" "0" "02326" "COL6A1_000190" "g.47423133C>G" "" "" "" "COL6A1(NM_001848.2):c.2464+70C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856030" "0" "50" "21" "47423358" "47423358" "subst" "4.28453E-6" "02325" "COL6A1_000456" "g.47423358G>A" "" "" "" "COL6A1(NM_001848.3):c.2518G>A (p.V840M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856031" "0" "10" "21" "47424187" "47424187" "subst" "0" "02326" "COL6A1_000227" "g.47424187A>G" "" "" "" "COL6A1(NM_001848.2):c.*260A>G, COL6A1(NM_001848.3):c.*260A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856032" "0" "10" "21" "47424346" "47424346" "subst" "0" "02326" "COL6A1_000404" "g.47424346A>G" "" "" "" "COL6A1(NM_001848.2):c.*419A>G, COL6A1(NM_001848.3):c.*419A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866667" "0" "30" "21" "47402620" "47402620" "subst" "0.000809799" "01804" "COL6A1_000262" "g.47402620C>A" "" "" "" "COL6A1(NM_001848.2):c.170C>A (p.(Ala57Asp)), COL6A1(NM_001848.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866668" "0" "30" "21" "47406590" "47406590" "subst" "0.00107248" "01804" "COL6A1_000445" "g.47406590C>T" "" "" "" "COL6A1(NM_001848.2):c.579C>T (p.(Pro193=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866669" "0" "30" "21" "47407395" "47407395" "subst" "0.00589067" "01804" "COL6A1_000446" "g.47407395C>T" "" "" "" "COL6A1(NM_001848.2):c.739-18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866670" "0" "70" "21" "47407552" "47407552" "subst" "0" "01804" "COL6A1_000052" "g.47407552G>A" "" "" "" "COL6A1(NM_001848.2):c.788G>A (p.(Gly263Asp)), COL6A1(NM_001848.3):c.788G>A (p.G263D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866671" "0" "30" "21" "47409579" "47409579" "subst" "0.000455396" "01804" "COL6A1_000448" "g.47409579C>A" "" "" "" "COL6A1(NM_001848.2):c.903+13C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866672" "0" "30" "21" "47411912" "47411912" "subst" "0.0036649" "01804" "COL6A1_000088" "g.47411912G>A" "" "" "" "COL6A1(NM_001848.2):c.1120-12G>A (p.(=)), COL6A1(NM_001848.3):c.1120-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866673" "0" "30" "21" "47411989" "47411989" "subst" "0.00241239" "01804" "COL6A1_000213" "g.47411989G>A" "" "" "" "COL6A1(NM_001848.2):c.1182+3G>A (p.?), COL6A1(NM_001848.3):c.1182+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866674" "0" "30" "21" "47419603" "47419603" "subst" "0.0165931" "01804" "COL6A1_000110" "g.47419603G>A" "" "" "" "COL6A1(NM_001848.2):c.1773G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866675" "0" "50" "21" "47421284" "47421284" "subst" "5.74387E-5" "01804" "COL6A1_000455" "g.47421284G>A" "" "" "" "COL6A1(NM_001848.2):c.1940G>A (p.(Arg647Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866676" "0" "30" "21" "47422122" "47422122" "subst" "0.00250707" "01804" "COL6A1_000126" "g.47422122T>C" "" "" "" "COL6A1(NM_001848.2):c.2067-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866677" "0" "30" "21" "47423015" "47423015" "subst" "0.00785274" "01804" "COL6A1_000137" "g.47423015C>T" "" "" "" "COL6A1(NM_001848.2):c.2435-19C>T (p.(=)), COL6A1(NM_001848.3):c.2435-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866678" "0" "30" "21" "47423475" "47423475" "subst" "0.00185286" "02326" "COL6A1_000401" "g.47423475A>G" "" "" "" "COL6A1(NM_001848.2):c.2635A>G (p.S879G, p.(Ser879Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866679" "0" "30" "21" "47423621" "47423621" "subst" "0.0075054" "01804" "COL6A1_000142" "g.47423621C>T" "" "" "" "COL6A1(NM_001848.2):c.2781C>T (p.(Tyr927=)), COL6A1(NM_001848.3):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866680" "0" "50" "21" "47423661" "47423661" "subst" "4.11056E-6" "01804" "COL6A1_000457" "g.47423661C>G" "" "" "" "COL6A1(NM_001848.2):c.2821C>G (p.(Leu941Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866681" "0" "30" "21" "47423918" "47423918" "subst" "0.000360234" "01804" "COL6A1_000458" "g.47423918G>A" "" "" "" "COL6A1(NM_001848.2):c.3078G>A (p.(Ala1026=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872046" "1" "90" "21" "47410745" "47410745" "subst" "0" "00006" "COL6A1_000179" "g.47410745G>A" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PS2, PS4_mod, PM4, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.45990831G>A" "" "pathogenic" "ACMG" "0000881142" "0" "90" "21" "47409043" "47409043" "subst" "0" "02300" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs121912938" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "ACMG" "0000881143" "0" "70" "21" "47409550" "47409550" "subst" "0" "02300" "COL6A1_000152" "g.47409550G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs1603590649" "0" "" "" "g.45989636G>T" "" "likely pathogenic (dominant)" "ACMG" "0000881262" "1" "70" "21" "47406486" "47406486" "subst" "0" "02300" "COL6A1_000459" "g.47406486G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3, PM3" "Germline/De novo (untested)" "" "" "0" "" "" "g.45986572G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881355" "2" "90" "21" "47423059" "47423059" "subst" "0" "02300" "COL6A1_000460" "g.47423059C>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.46003145C>A" "" "pathogenic (recessive)" "ACMG" "0000895528" "0" "50" "21" "47402576" "47402576" "subst" "4.07034E-6" "02329" "COL6A1_000461" "g.47402576G>A" "" "" "" "COL6A1(NM_001848.3):c.126G>A (p.L42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895529" "0" "50" "21" "47410909" "47410909" "subst" "0" "02325" "COL6A1_000462" "g.47410909C>T" "" "" "" "COL6A1(NM_001848.3):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895531" "0" "50" "21" "47417383" "47417383" "subst" "1.22211E-5" "01804" "COL6A1_000464" "g.47417383C>T" "" "" "" "COL6A1(NM_001848.2):c.1447C>T (p.(Pro483Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895532" "0" "30" "21" "47421979" "47421979" "subst" "0.00294481" "01804" "COL6A1_000125" "g.47421979C>A" "" "" "" "COL6A1(NM_001848.2):c.2061C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895533" "0" "30" "21" "47421998" "47421998" "subst" "1.80097E-5" "01804" "COL6A1_000465" "g.47421998G>A" "" "" "" "COL6A1(NM_001848.2):c.2066+14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895534" "0" "30" "21" "47422639" "47422639" "subst" "0.858176" "01804" "COL6A1_000133" "g.47422639A>G" "" "" "" "COL6A1(NM_001848.2):c.2434+15delinsG (p.(=)), COL6A1(NM_001848.3):c.2434+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895535" "0" "10" "21" "47422639" "47422678" "del" "0.000757883" "02326" "COL6A1_000400" "g.47422639_47422678del" "" "" "" "COL6A1(NM_001848.2):c.2434+15_2434+54del, COL6A1(NM_001848.2):c.2434+15_2434+54del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895536" "0" "30" "21" "47423462" "47423462" "subst" "0.000932913" "01804" "COL6A1_000466" "g.47423462G>A" "" "" "" "COL6A1(NM_001848.2):c.2622G>A (p.(Ala874=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895537" "0" "50" "21" "47423649" "47423649" "subst" "0.000689655" "01804" "COL6A1_000253" "g.47423649A>G" "" "" "" "COL6A1(NM_001848.2):c.2809A>G (p.(Lys937Glu)), COL6A1(NM_001848.3):c.2809A>G (p.K937E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895538" "0" "30" "21" "47423705" "47423705" "subst" "0.00136367" "02326" "COL6A1_000144" "g.47423705C>T" "" "" "" "COL6A1(NM_001848.2):c.2865C>T (p.I955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909336" "0" "90" "21" "47409550" "47409550" "subst" "0" "04448" "COL6A1_000388" "g.47409550G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45989636G>A" "" "pathogenic (dominant)" "" "0000909340" "0" "90" "21" "47410742" "47410742" "subst" "0" "04448" "COL6A1_000016" "g.47410742T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45990828T>C" "" "pathogenic (dominant)" "ACMG" "0000909543" "1" "90" "21" "47410741" "47410741" "subst" "0" "04448" "COL6A1_000015" "g.47410741G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>A" "" "pathogenic" "ACMG" "0000909544" "0" "90" "21" "47410743" "47410743" "subst" "0" "04448" "COL6A1_000467" "g.47410743A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45990829A>C" "" "pathogenic (dominant)" "" "0000915468" "0" "30" "21" "47402692" "47402692" "subst" "0.000430904" "02326" "COL6A1_000468" "g.47402692C>T" "" "" "" "COL6A1(NM_001848.2):c.227+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917090" "1" "70" "21" "47410691" "47410691" "subst" "0" "00006" "COL6A1_000471" "g.47410691A>G" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PP3 PP5" "Germline" "" "" "0" "" "" "g.45990777A>G" "" "likely pathogenic (dominant)" "ACMG" "0000917118" "1" "70" "21" "47410323" "47410392" "del" "0" "00006" "COL6A1_000470" "g.47410323_47410392del" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PVS1 PM2" "Germline" "" "" "0" "" "" "g.45990409_45990478del" "" "likely pathogenic (dominant)" "ACMG" "0000917148" "1" "70" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PM5 PP3 PP5" "Germline" "" "rs121912939" "0" "" "" "g.45989617G>A" "" "likely pathogenic (dominant)" "ACMG" "0000917160" "0" "50" "21" "47407078" "47407078" "subst" "3.17109E-5" "00006" "COL6A1_000469" "g.47407078G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.45987164G>A" "" "VUS" "" "0000917169" "11" "50" "21" "47417369" "47417369" "subst" "3.25611E-5" "00006" "COL6A1_000472" "g.47417369G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.45997455G>A" "" "VUS" "" "0000920112" "0" "90" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Fan 2018:29419890}" "" "" "" "De novo" "" "" "0" "" "" "g.45989626G>A" "" "pathogenic (dominant)" "" "0000920555" "0" "90" "21" "47410741" "47410741" "subst" "0" "03361" "COL6A1_000015" "g.47410741G>A" "" "Morel et al. submitted" "" "" "ACMG PS2_VS, PS3_VS, PP1_strong, PS3, PS4, PM2_sup, PP3, PP4" "De novo" "yes" "" "0" "" "" "g.45990827G>A" "" "pathogenic (dominant)" "ACMG" "0000927101" "0" "90" "21" "47409676" "47409676" "subst" "0" "02329" "COL6A1_000009" "g.47409676G>T" "" "" "" "COL6A1(NM_001848.3):c.914G>T (p.G305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931231" "0" "30" "21" "47423309" "47423309" "subst" "0.000936281" "02326" "COL6A1_000249" "g.47423309G>A" "" "" "" "COL6A1(NM_001848.2):c.2469G>A (p.T823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936095" "0" "70" "21" "47410691" "47410691" "subst" "0" "00006" "COL6A1_000471" "g.47410691A>G" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PP3 PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990777A>G" "" "likely pathogenic (dominant)" "ACMG" "0000936123" "0" "70" "21" "47410323" "47410392" "del" "0" "00006" "COL6A1_000470" "g.47410323_47410392del" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PVS1 PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990409_45990478del" "" "likely pathogenic (dominant)" "ACMG" "0000936153" "0" "70" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PM5 PP3 PP5" "Germline/De novo (untested)" "" "rs121912939" "0" "" "" "g.45989617G>A" "" "likely pathogenic (dominant)" "ACMG" "0000936165" "0" "50" "21" "47407078" "47407078" "subst" "3.17109E-5" "00006" "COL6A1_000469" "g.47407078G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45987164G>A" "" "VUS" "" "0000936174" "11" "50" "21" "47417369" "47417369" "subst" "3.25611E-5" "00006" "COL6A1_000472" "g.47417369G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.45997455G>A" "" "VUS" "" "0000945946" "1" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PS1, PM2/PM5, PP3/PP5" "Germline" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "ACMG" "0000945947" "1" "90" "21" "47407411" "47407411" "subst" "0" "00006" "COL6A1_000022" "g.47407411A>G" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP3, PVS1, PM2" "Germline" "" "" "0" "" "" "g.45987497A>G" "" "pathogenic" "ACMG" "0000945948" "1" "50" "21" "47406516" "47406516" "subst" "0" "00006" "COL6A1_000474" "g.47406516T>G" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP1/PP3, PM2" "Germline" "" "" "0" "" "" "g.45986602T>G" "" "VUS" "ACMG" "0000945949" "1" "50" "21" "47418856" "47418856" "subst" "0" "00006" "COL6A1_000476" "g.47418856G>A" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP1/PP3, PM2" "Germline" "" "" "0" "" "" "g.45998942G>A" "" "VUS" "ACMG" "0000945950" "1" "50" "21" "47418856" "47418856" "subst" "0" "00006" "COL6A1_000476" "g.47418856G>A" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP1/PP3, PM2" "Germline" "" "" "0" "" "" "g.45998942G>A" "" "VUS" "ACMG" "0000945951" "1" "50" "21" "47418856" "47418856" "subst" "0" "00006" "COL6A1_000476" "g.47418856G>A" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP1/PP3, PM2" "Germline" "" "" "0" "" "" "g.45998942G>A" "" "VUS" "ACMG" "0000945952" "1" "90" "21" "47414145" "47414145" "subst" "0" "00006" "COL6A1_000475" "g.47414145T>C" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP3, PVS1, PM2" "Germline" "" "" "0" "" "" "g.45994231T>C" "" "pathogenic" "ACMG" "0000945953" "1" "50" "21" "47410336" "47410336" "subst" "0" "00006" "COL6A1_000473" "g.47410336G>A" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.45990422G>A" "" "VUS" "ACMG" "0000945963" "1" "90" "21" "47423032" "47423032" "subst" "0" "00006" "COL6A1_000196" "g.47423032A>G" "" "{PMID:Panades de Oliveira 2019:30706156}" "" "" "ACMG PVS1, PM2, PP3/PP5" "Germline" "" "" "0" "" "" "g.46003118A>G" "" "pathogenic" "ACMG" "0000945985" "0" "90" "21" "47409531" "47409531" "subst" "0" "00006" "COL6A1_000018" "g.47409531G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989617G>A" "" "pathogenic" "" "0000945986" "0" "90" "21" "47409043" "47409043" "subst" "0" "00006" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "De novo" "" "" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "" "0000946047" "0" "50" "21" "47406567" "47406567" "subst" "1.3354E-5" "00006" "COL6A1_000231" "g.47406567G>C" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome after targeted sequencing; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.45986653G>C" "" "VUS" "" "0000946109" "0" "50" "21" "47410319" "47410319" "subst" "0.000200309" "00006" "COL6A1_000236" "g.47410319G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.45990405G>A" "" "VUS" "" "0000946205" "0" "50" "21" "47402546" "47402546" "subst" "0" "00006" "COL6A1_000229" "g.47402546A>G" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.45982632A>G" "" "VUS" "" "0000951522" "0" "30" "21" "47423882" "47423882" "subst" "4.09977E-6" "01804" "COL6A1_000477" "g.47423882C>T" "" "" "" "COL6A1(NM_001848.2):c.3042C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954899" "3" "70" "21" "47406990" "47406990" "subst" "0" "04618" "COL6A1_000172" "g.47406990A>G" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PS3_mod, PM3_strong, PM2_sup, PP4" "Germline" "" "" "0" "" "" "g.45987076A>G" "#284826" "likely pathogenic (recessive)" "ACMG" "0000954900" "3" "90" "21" "47409010" "47409010" "subst" "0" "04618" "COL6A1_000443" "g.47409010A>T" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PVS1, PM3, PP1, PM2_sup, PP4; PMID: 32403337" "Germline" "" "" "0" "" "" "g.45989096A>T" "" "pathogenic (recessive)" "ACMG" "0000954934" "0" "70" "21" "47404182" "47404384" "del" "0" "04618" "COL6A1_000478" "g.(47402678_47404182)_(47404384_47406439)del" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "c.(227+1_228-1)_(428+1_429-1)del" "ACMG PVS1_strong, PM2_sup, PP4" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000954935" "0" "70" "21" "47407552" "47407552" "subst" "0" "04618" "COL6A1_000052" "g.47407552G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PM1, PS4_mod, PM5, PM2_sup, PP1, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.45987638G>A" "" "likely pathogenic (dominant)" "ACMG" "0000954936" "0" "90" "21" "47408998" "47408998" "subst" "0" "04618" "COL6A1_000047" "g.47408998G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PS1, PM1, PM5, PM6, PS4_mod, PP1, PM2_sup, PP3, PP4; PMID: 20576434" "Germline" "yes" "" "0" "" "" "g.45989084G>A" "" "pathogenic (dominant)" "ACMG" "0000954937" "0" "70" "21" "47409016" "47409016" "subst" "0" "04618" "COL6A1_000024" "g.47409016G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PM1, PM5, PP1, PM2_sup, PP3, PS4_sup; PMID: 15955946" "Germline" "?" "" "0" "" "" "g.45989102G>A" "" "likely pathogenic (dominant)" "ACMG" "0000954938" "0" "90" "21" "47409043" "47409043" "subst" "0" "04618" "COL6A1_000007" "g.47409043G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PS2_VS, PS4, PM1, PM2_sup, PP3, PP4" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45989129G>A" "" "pathogenic (dominant)" "ACMG" "0000954939" "0" "90" "21" "47409881" "47409881" "subst" "0" "04618" "COL6A1_000235" "g.47409881C>T" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PS2_VS, PS3, PS4, PM1, PM2_sup, PP4; PMID: 28424332, 30895940, 31607746" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45989967C>T" "" "pathogenic (dominant)" "ACMG" "0000954940" "0" "90" "21" "47410741" "47410741" "subst" "0" "04618" "COL6A1_000015" "g.47410741G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PS2_VS, PP1_strong, PS3_VS, PS4, PP4_mod, PM2_sup; PMID:10419498, 15689448, 15955946, 17886299, 27363342, 29419890, 25749816, 24271325, 28831785" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45990827G>A" "VCV000017174.44" "pathogenic (dominant)" "ACMG" "0000954942" "3" "50" "21" "47421932" "47421932" "subst" "0.000104329" "04618" "COL6A1_000480" "g.47421932G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PP3, PM3_sup" "Germline" "" "" "0" "" "" "g.46002018G>A" "" "VUS" "ACMG" "0000954943" "0" "50" "21" "47417650" "47417650" "subst" "0" "04618" "COL6A1_000479" "g.47417650G>A" "" "{PMID:Morel 2023:38155714}, {DOI:Morel 2023:10.3389/fgene.2023.1242277}" "" "" "ACMG PM2_sup, PP3" "Germline" "yes" "" "0" "" "" "g.45997736G>A" "" "VUS" "ACMG" "0000970334" "0" "30" "21" "47423393" "47423393" "subst" "0.000133991" "01804" "COL6A1_000481" "g.47423393C>T" "" "" "" "COL6A1(NM_001848.2):c.2553C>T (p.(Phe851=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984037" "0" "50" "21" "47404305" "47404305" "subst" "0.000978673" "01804" "COL6A1_000056" "g.47404305T>C" "" "" "" "COL6A1(NM_001848.2):c.350T>C (p.(Val117Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984038" "0" "30" "21" "47412687" "47412687" "subst" "0.00245665" "02326" "COL6A1_000237" "g.47412687G>A" "" "" "" "COL6A1(NM_001848.2):c.1298G>A (p.R433Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984039" "0" "30" "21" "47420242" "47420242" "subst" "7.31125E-5" "01804" "COL6A1_000483" "g.47420242C>T" "" "" "" "COL6A1(NM_001848.3):c.1777-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984040" "0" "50" "21" "47423036" "47423036" "subst" "0" "01804" "COL6A1_000484" "g.47423036A>G" "" "" "" "COL6A1(NM_001848.3):c.2437A>G (p.(Lys813Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989633" "0" "90" "21" "47406862" "47406862" "subst" "6.71601E-5" "00006" "COL6A1_000276" "g.47406862C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "COL6A1 593C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45986948C>T" "" "pathogenic" "" "0001005815" "0" "50" "21" "47401805" "47401805" "subst" "0" "01804" "COL6A1_000485" "g.47401805C>T" "" "" "" "COL6A1(NM_001848.2):c.41C>T (p.(Ala14Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005816" "0" "50" "21" "47404284" "47404284" "subst" "7.75605E-5" "01804" "COL6A1_000487" "g.47404284G>A" "" "" "" "COL6A1(NM_001848.2):c.329G>A (p.(Arg110His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005817" "0" "50" "21" "47406900" "47406900" "subst" "6.70484E-6" "01804" "COL6A1_000488" "g.47406900C>G" "" "" "" "COL6A1(NM_001848.2):c.631C>G (p.(Arg211Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005818" "0" "30" "21" "47407549" "47407549" "subst" "5.75232E-5" "01804" "COL6A1_000489" "g.47407549G>A" "" "" "" "COL6A1(NM_001848.2):c.785G>A (p.(Arg262Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005819" "0" "30" "21" "47414140" "47414140" "subst" "0" "01804" "COL6A1_000428" "g.47414140C>A" "" "" "" "COL6A1(NM_001848.2):c.1395C>A (p.(Asp465Glu)), COL6A1(NM_001848.3):c.1395C>A (p.D465E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005820" "0" "50" "21" "47419100" "47419100" "subst" "0" "01804" "COL6A1_000490" "g.47419100G>T" "" "" "" "COL6A1(NM_001848.2):c.1708G>T (p.(Ala570Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005821" "0" "30" "21" "47421256" "47421256" "subst" "8.16087E-6" "01804" "COL6A1_000405" "g.47421256G>A" "" "" "" "COL6A1(NM_001848.2):c.1912G>A (p.(Val638Ile), p.V638I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005822" "0" "50" "21" "47421289" "47421289" "subst" "2.87441E-5" "01804" "COL6A1_000491" "g.47421289G>A" "" "" "" "COL6A1(NM_001848.2):c.1945G>A (p.(Glu649Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005823" "0" "30" "21" "47422465" "47422465" "subst" "2.43801E-5" "01804" "COL6A1_000492" "g.47422465G>A" "" "" "" "COL6A1(NM_001848.2):c.2275G>A (p.(Val759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005824" "0" "30" "21" "47422641" "47422641" "subst" "0" "01804" "COL6A1_000493" "g.47422641C>T" "" "" "" "COL6A1(NM_001848.2):c.2434+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005825" "0" "50" "21" "47423454" "47423454" "subst" "8.72579E-5" "01804" "COL6A1_000140" "g.47423454C>T" "" "" "" "COL6A1(NM_001848.2):c.2614C>T (p.(Arg872Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005826" "0" "30" "21" "47423482" "47423482" "subst" "0.000681953" "01804" "COL6A1_000358" "g.47423482C>T" "" "" "" "COL6A1(NM_001848.2):c.2642C>T (p.(Thr881Met)), COL6A1(NM_001848.3):c.2642C>T (p.T881M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005827" "0" "50" "21" "47423712" "47423712" "subst" "0" "01804" "COL6A1_000494" "g.47423712G>C" "" "" "" "COL6A1(NM_001848.2):c.2872G>C (p.(Ala958Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007051" "11" "70" "21" "47401820" "47401833" "dup" "0" "01164" "COL6A1_000486" "g.47401820_47401833dup" "" "" "" "" "ACMG: PVS1, PS4_MOD, PM2_SUP; Father affected and carries the variant; Invitae, ClinVar, MGZ: detected in at least 3 individuals with Bethlem myopathy 1A phenotype" "Germline" "yes" "" "0" "" "" "g.45981906_45981919dup" "VCV000803639.2" "pathogenic (dominant)" "ACMG" "0001008333" "0" "90" "21" "47404342" "47404348" "delins" "0" "00006" "COL6A1_000495" "g.47404342_47404348delinsT" "" "{PMID:Xie 2024:39198981}" "" "" "other variant reported as SMA9 c.2111delC" "Germline/De novo (untested)" "" "" "0" "" "" "g.45984428_45984434delinsT" "" "pathogenic" "" "0001015904" "0" "50" "21" "47423412" "47423412" "subst" "2.49983E-5" "01804" "COL6A1_000496" "g.47423412C>T" "" "" "" "COL6A1(NM_001848.2):c.2572C>T (p.(Arg858Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022097" "0" "90" "21" "47409656" "47409656" "subst" "0" "04796" "COL6A1_000176" "g.47409656G>A" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.45989742G>A" "" "pathogenic" "" "0001027348" "0" "50" "21" "47406441" "47406441" "subst" "6.22727E-6" "02325" "COL6A1_000497" "g.47406441G>A" "" "" "" "COL6A1(NM_001848.3):c.430G>A (p.(Gly144Ser), p.G144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027349" "0" "50" "21" "47406606" "47406606" "subst" "6.89845E-6" "01804" "COL6A1_000498" "g.47406606A>G" "" "" "" "COL6A1(NM_001848.2):c.588+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027350" "0" "50" "21" "47423320" "47423320" "subst" "2.57162E-5" "02325" "COL6A1_000499" "g.47423320C>T" "" "" "" "COL6A1(NM_001848.3):c.2480C>T (p.P827L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043648" "0" "50" "21" "47406441" "47406441" "subst" "6.22727E-6" "01804" "COL6A1_000497" "g.47406441G>A" "" "" "" "COL6A1(NM_001848.3):c.430G>A (p.(Gly144Ser), p.G144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043649" "0" "50" "21" "47407567" "47407567" "subst" "0" "01804" "COL6A1_000500" "g.47407567A>G" "" "" "" "COL6A1(NM_001848.3):c.803A>G (p.(Glu268Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043650" "0" "30" "21" "47417321" "47417321" "subst" "0.000178965" "01804" "COL6A1_000501" "g.47417321C>G" "" "" "" "COL6A1(NM_001848.2):c.1399-14C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043651" "0" "50" "21" "47418871" "47418871" "subst" "0" "01804" "COL6A1_000502" "g.47418871G>A" "" "" "" "COL6A1(NM_001848.3):c.1672G>A (p.(Asp558Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043652" "0" "30" "21" "47419862" "47419863" "del" "0" "01804" "COL6A1_000503" "g.47419862_47419863del" "" "" "" "COL6A1(NM_001848.3):c.1776+256_1776+257del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043653" "0" "30" "21" "47420568" "47420568" "subst" "0" "01804" "COL6A1_000504" "g.47420568A>G" "" "" "" "COL6A1(NM_001848.3):c.1814-105A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043654" "0" "30" "21" "47420582" "47420582" "subst" "0" "01804" "COL6A1_000505" "g.47420582G>A" "" "" "" "COL6A1(NM_001848.3):c.1814-91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043655" "0" "50" "21" "47422577" "47422577" "subst" "0" "01804" "COL6A1_000506" "g.47422577T>C" "" "" "" "COL6A1(NM_001848.3):c.2387T>C (p.(Leu796Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043656" "0" "50" "21" "47423049" "47423064" "del" "0" "01804" "COL6A1_000507" "g.47423049_47423064del" "" "" "" "COL6A1(NM_001848.3):c.2450_2464+1del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043657" "0" "50" "21" "47423661" "47423661" "subst" "0.000135648" "01804" "COL6A1_000365" "g.47423661C>T" "" "" "" "COL6A1(NM_001848.3):c.2821C>T (p.(Leu941Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046797" "0" "30" "21" "47414064" "47414064" "subst" "0.00113676" "02326" "COL6A1_000045" "g.47414064G>A" "" "" "" "COL6A1(NM_001848.2):c.1336-17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046798" "0" "30" "21" "47422538" "47422538" "subst" "0.000585252" "02326" "COL6A1_000131" "g.47422538G>A" "" "" "" "COL6A1(NM_001848.2):c.2348G>A (p.(Arg783Gln), p.R783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047008" "21" "70" "21" "47418348" "47418348" "subst" "0" "03544" "COL6A1_000508" "g.47418348G>A" "" "" "" "" "inherited from an apparently unaffected mother" "Germline" "?" "rs886042748" "0" "" "" "g.45998434G>A" "{CV:283950}" "likely pathogenic (!)" "ACMG" "0001047900" "1" "90" "21" "47409664" "47409664" "subst" "0" "04892" "COL6A1_000510" "g.47409664A>G" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45989750A>G" "" "pathogenic (dominant)" "" "0001047901" "1" "90" "21" "47417617" "47417617" "del" "0" "04892" "COL6A1_000020" "g.47417617del" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45997703del" "" "pathogenic (dominant)" "" "0001047902" "1" "90" "21" "47418312" "47418312" "subst" "0" "04892" "COL6A1_000512" "g.47418312G>A" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45998398G>A" "" "pathogenic (dominant)" "" "0001047903" "1" "90" "21" "47409559" "47409559" "subst" "0" "04892" "COL6A1_000198" "g.47409559G>A" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45989645G>A" "" "pathogenic (dominant)" "" "0001047904" "1" "90" "21" "47409044" "47409044" "subst" "0" "04892" "COL6A1_000509" "g.47409044G>A" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45989130G>A" "" "pathogenic (dominant)" "" "0001047905" "1" "90" "21" "47410686" "47410686" "subst" "0" "04892" "COL6A1_000306" "g.47410686G>A" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45990772G>A" "" "pathogenic (dominant)" "" "0001047906" "1" "90" "21" "47410741" "47410741" "subst" "0" "04892" "COL6A1_000511" "g.47410741G>C" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45990827G>C" "" "pathogenic (dominant)" "" "0001047907" "1" "90" "21" "47409531" "47409531" "subst" "0" "04892" "COL6A1_000028" "g.47409531G>C" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45989617G>C" "" "pathogenic (dominant)" "" "0001047908" "1" "90" "21" "47410706" "47410706" "subst" "0" "04892" "COL6A1_000013" "g.47410706G>A" "" "Fortunato 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45990792G>A" "" "pathogenic (dominant)" "" "0001049038" "0" "90" "21" "47409540" "47409540" "subst" "0" "00006" "COL6A1_000053" "g.47409540G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.877G>A" "" "De novo" "" "" "0" "" "" "g.45989626G>A" "" "pathogenic (dominant)" "" ## 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 COL6A1 ## Count = 1176 "{{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}}" "0000062572" "00005471" "10" "428" "40" "428" "40" "c.428+40G>A" "r.(=)" "p.(=)" "3i" "0000062573" "00005471" "10" "739" "-51" "739" "-51" "c.739-51C>T" "r.(=)" "p.(=)" "6i" "0000062574" "00005471" "10" "1399" "-32" "1399" "-32" "c.1399-32T>C" "r.(=)" "p.(=)" "19i" "0000062575" "00005471" "10" "1823" "-31" "1823" "-31" "c.1823-31C>T" "r.(=)" "p.(=)" "29i" "0000062576" "00005471" "10" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ser890Leu)" "35" "0000062577" "00005471" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Glu)" "11" "0000062578" "00005471" "10" "1773" "0" "1773" "0" "c.1773G>A" "r.(=)" "p.(=)" "27" "0000062579" "00005471" "10" "1524" "19" "1524" "19" "c.1524+19G>C" "r.(=)" "p.(=)" "22i" "0000062580" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "3" "0000062581" "00005471" "10" "1956" "15" "1956" "15" "c.1956+15C>T" "r.(=)" "p.(=)" "30i" "0000062582" "00005471" "10" "1822" "231" "1822" "231" "c.1822+231G>A" "r.(=)" "p.(=)" "29i" "0000062583" "00005471" "10" "1822" "185" "1822" "185" "c.1822+185C>T" "r.(=)" "p.(=)" "29i" "0000062584" "00005471" "10" "1822" "88" "1822" "88" "c.1822+88A>G" "r.(=)" "p.(=)" "29i" "0000062585" "00005471" "10" "1822" "80" "1822" "80" "c.1822+80G>A" "r.(=)" "p.(=)" "29i" "0000062586" "00005471" "10" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(=)" "p.(=)" "33i" "0000062587" "00005471" "10" "1741" "-51" "1741" "-51" "c.1741-51G>A" "r.(=)" "p.(=)" "26i" "0000062588" "00005471" "10" "2434" "20" "2434" "20" "c.2434+20G>A" "r.(=)" "p.(=)" "33i" "0000062589" "00005471" "10" "1461" "41" "1461" "41" "c.1461+41dup" "r.(=)" "p.(=)" "21i" "0000062590" "00005471" "10" "1461" "18" "1461" "18" "c.1461+18C>A" "r.(=)" "p.(=)" "21i" "0000062591" "00005471" "10" "1335" "27" "1335" "27" "c.1335+27A>C" "r.(=)" "p.(=)" "19i" "0000062592" "00005471" "10" "859" "-19" "859" "-19" "c.859-19A>G" "r.(=)" "p.(=)" "9i" "0000062593" "00005471" "10" "858" "62" "858" "62" "c.858+62C>T" "r.(=)" "p.(=)" "9i" "0000062594" "00005471" "10" "588" "13" "588" "13" "c.588+13C>A" "r.(=)" "p.(=)" "4i" "0000062595" "00005471" "10" "428" "14" "428" "14" "c.428+14A>G" "r.(=)" "p.(=)" "3i" "0000062596" "00005471" "10" "1822" "45" "1822" "45" "c.1822+45C>G" "r.(=)" "p.(=)" "29i" "0000062597" "00005471" "10" "1525" "-60" "1525" "-60" "c.1525-60A>G" "r.(=)" "p.(=)" "22i" "0000062598" "00005471" "10" "2251" "-29" "2251" "-29" "c.2251-29C>T" "r.(=)" "p.(=)" "32i" "0000062599" "00005471" "50" "1612" "-80" "1612" "-80" "c.1612-80dup" "r.(=)" "p.(=)" "24i" "0000062600" "00005471" "10" "1003" "-61" "1003" "-61" "c.1003-61T>G" "r.(=)" "p.(=)" "13i" "0000062601" "00005471" "10" "4161" "0" "4161" "0" "c.*1074G>A" "r.(=)" "p.(=)" "35" "0000062602" "00005471" "10" "2465" "-72" "2465" "-72" "c.2465-72C>T" "r.(=)" "p.(=)" "34i" "0000062603" "00005471" "10" "2464" "70" "2464" "70" "c.2464+70C>G" "r.(=)" "p.(=)" "34i" "0000062604" "00005471" "10" "2434" "88" "2434" "88" "c.2434+88C>T" "r.(=)" "p.(=)" "33i" "0000062605" "00005471" "10" "2434" "55" "2434" "55" "c.2434+55G>A" "r.(=)" "p.(=)" "33i" "0000062606" "00005471" "10" "1957" "-11" "1957" "-11" "c.1957-11C>T" "r.(=)" "p.(=)" "30i" "0000084595" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.Gly293Arg" "10" "0000084596" "00005471" "90" "887" "0" "887" "0" "c.887G>T" "r.(?)" "p.(Gly296Val)" "10" "0000084600" "00005471" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Asp554Thrfs*48)" "25" "0000084603" "00005471" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Asp554Thrfs*48)" "25" "0000084604" "00005471" "90" "793" "0" "804" "9" "c.793_804+9del" "r.spl" "p.(Pro254_Glu268del)" "8" "0000084606" "00005471" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p(.Gly281Glu)" "9" "0000084607" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000084608" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175265" "00005471" "50" "717" "4" "717" "4" "c.717+4A>G" "r.spl?" "p.?" "5i" "0000175266" "00005471" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Glu)" "" "0000175267" "00005471" "70" "1855" "0" "1855" "0" "c.1855G>T" "r.(?)" "p.(Val619Leu)" "" "0000175268" "00005471" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "" "0000175269" "00005471" "70" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Gly299Glu)" "" "0000175270" "00005471" "70" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000175271" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175272" "00005471" "70" "886" "0" "886" "0" "c.886G>C" "r.(?)" "p.(Gly296Arg)" "" "0000175273" "00005471" "70" "892" "0" "892" "0" "c.892C>A" "r.(?)" "p.(Gln298Lys)" "" "0000175274" "00005471" "70" "2435" "-2" "2435" "-2" "c.2435-2A>G" "r.spl" "p.?" "33i" "0000175315" "00005471" "90" "1003" "-3" "1003" "-3" "c.1003-3C>A" "r.1003_1056del" "p.Gly335_Asp352del" "13i" "0000175316" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "14" "0000175317" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175318" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" 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"p.(Ser116Asn)" "3" "0000175329" "00005471" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "3" "0000175330" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.363_428del" "p.Tyr122_Gly143del" "3i" "0000175331" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.363_428del" "p.Tyr122_Gly143del" "3i" "0000175332" "00005471" "90" "739" "-1" "739" "-1" "c.739-1G>A" "r.739_759del" "p.Cys247_Gln253del" "6i" "0000175333" "00005471" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.739_759del" "p.Cys247_Gln253del" "6i" "0000175334" "00005471" "90" "804" "249" "973" "0" "c.804+249_973delinsCAGGCT" "r.805_1001del" "p.Arg271_Glu336del" "8i_13" "0000175335" "00005471" "90" "805" "-639" "1003" "-16" "c.805-639_1003-16del" "r.(?)" "p.(Arg271_Glu336del)" "8i" "0000175336" "00005471" "90" "805" "-572" "903" "7" "c.805-572_903+7del" "r.805_903del" "p.Gly269_Lys301del" "8i" "0000175337" "00005471" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "9" "0000175338" "00005471" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "9" "0000175339" "00005471" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "9" "0000175340" "00005471" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175341" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175342" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000175344" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175345" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.347g>a" "p.(Ser116Asn)" "3" "0000175346" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175347" "00005471" "90" "914" "0" "914" "0" "c.914G>T" "r.(?)" "p.(Gly305Val)" "11" "0000175348" "00005471" "90" "931" "-1" "931" "-1" "c.931-1G>A" "r.931delG" "p.Gly311Alafs*22" "11i" "0000175349" "00005471" "90" "957" "1" "957" "1" "c.957+1G>A" "r.931_957del" "p.Gly311_Lys319del" "12i" "0000175355" "00005471" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175365" "00005471" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175376" "00005471" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175393" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000175394" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000175395" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000175396" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000175397" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000175398" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000175399" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000175400" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000175401" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175402" "00005471" "90" "928" "0" "930" "0" "c.928_930del" "r.928_930del" "p.Lys310del" "11" "0000175403" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175404" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175405" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175406" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175407" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175408" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.(del?)" "14i" "0000175409" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.(del?)" "14i" "0000175414" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.363_428del" "p.Tyr122_Gly143del" "3i" "0000175415" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.363_428del" "p.Tyr122_Gly143del" "3i" "0000175416" "00005471" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.739_759del" "p.Cys247_Gln253del" "6i" "0000175417" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175419" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175423" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1del" "r.spl?" "p.(?)" "14i" "0000175424" "00005471" "70" "930" "2" "930" "2" "c.930+2T>G" "r.spl?" "p.?" "11i" "0000175425" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1del" "r.spl?" "p.?" "14i" "0000175428" "00005471" "70" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "17" "0000175430" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175431" "00005471" "70" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Glu)" "10" "0000175435" "00005471" "30" "1823" "-8" "1823" "-8" "c.1823-8G>A" "r.(spl?)" "p.(=)" "29i" "0000175436" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.(del?)" "14i" "0000175437" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175440" "00005471" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Glu)" "10" "0000175441" "00005471" "90" "957" "1" "957" "1" "c.957+1G>A" "r.spl?" "p.(del?)" "12i" "0000175442" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.(del?)" "14i" "0000175443" "00005471" "70" "859" "-2" "859" "-2" "c.859-2A>C" "r.spl?" "p.(del?)" "9i" "0000175444" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175448" "00005471" "50" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gln808His)" "33" "0000175449" "00005471" "50" "1336" "-17" "1336" "-17" "c.1336-17G>A" "r.(spl?)" "p.(=)" "19i" "0000175451" "00005471" "70" "859" "-1" "859" "-1" "c.859-1G>C" "r.spl?" "p.(del?)" "9i" "0000175454" "00005471" "70" "805" "0" "805" "0" "c.805G>A" "r.(spl?)" "p.(Gly269Arg)" "9" "0000175455" "00005471" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "9" "0000175458" "00005471" "70" "805" "-2" "805" "-2" "c.805-2A>G" "r.spl?" "p.?" "8i" "0000175459" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175463" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "14i" "0000175468" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175469" "00005471" "70" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Gly535Arg)" "24" "0000175473" "00005471" "70" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Gly263Asp)" "8" "0000175476" "00005471" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175477" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175479" "00005471" "10" "-5" "0" "-5" "0" "c.-5C>G" "r.(?)" "p.(=)" "1" "0000175480" "00005471" "50" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(=)" "2" "0000175481" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "3" "0000175482" "00005471" "50" "350" "0" "350" "0" "c.350T>C" "r.(?)" "p.(Val117Ala)" "3" "0000175483" "00005471" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "3" "0000175484" "00005471" "10" "428" "14" "428" "14" "c.428+14A>G" "r.(?)" "p.(=)" "3i" "0000175485" "00005471" "10" "428" "39" "428" "39" "c.428+39C>G" "r.(?)" "p.(=)" "3i" "0000175486" "00005471" "10" "428" "40" "428" "40" "c.428+40G>A" "r.(?)" "p.(=)" "3i" "0000175487" "00005471" "10" "429" "-19" "429" "-19" "c.429-19G>A" "r.(?)" "p.(=)" "3i" "0000175488" "00005471" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "4" "0000175489" "00005471" "50" "588" "8" "588" "8" "c.588+8C>G" "r.(?)" "p.(=)" "4i" "0000175490" "00005471" "50" "588" "12" "588" "13" "c.588+12_588+13insA" "r.(?)" "p.(=)" "4i" "0000175491" "00005471" "10" "588" "13" "588" "13" "c.588+13C>A" "r.(?)" "p.(=)" "4i" "0000175492" "00005471" "10" "588" "19" "588" "19" "c.588+19dup" "r.(?)" "p.(=)" "4i" "0000175493" "00005471" "10" "588" "37" "588" "37" "c.588+37A>G" "r.(?)" "p.(=)" "4i" "0000175494" "00005471" "10" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(=)" "5" "0000175495" "00005471" "10" "717" "32" "717" "32" "c.717+32C>T" "r.(?)" "p.(=)" "5i" "0000175496" "00005471" "50" "738" "14" "738" "14" "c.738+14C>T" "r.(?)" "p.(=)" "6i" "0000175497" "00005471" "10" "739" "-51" "739" "-51" "c.739-51C>T" "r.(?)" "p.(=)" "6i" "0000175498" "00005471" "90" "805" "-2" "805" "-2" "c.805-2A>G" "r.spl" "p.?" "8i" "0000175499" "00005471" "70" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "9" "0000175500" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175501" "00005471" "50" "859" "-22" "859" "-22" "c.859-22A>G" "r.(?)" "p.(=)" "9i" "0000175502" "00005471" "10" "859" "-20" "859" "-20" "c.859-20C>T" "r.(?)" "p.(=)" "9i" "0000175503" "00005471" "10" "859" "-19" "859" "-19" "c.859-19A>G" "r.(?)" "p.(=)" "9i" "0000175504" "00005471" "50" "859" "-18" "859" "-18" "c.859-18T>A" "r.(?)" "p.(=)" "9i" "0000175505" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175506" "00005471" "10" "903" "14" "903" "14" "c.903+14C>A" "r.(?)" "p.(=)" "10i" "0000175507" "00005471" "10" "958" "-17" "958" "-17" "c.958-17G>A" "r.(?)" "p.(=)" "12i" "0000175508" "00005471" "10" "1002" "37" "1002" "37" "c.1002+37A>G" "r.(?)" "p.(=)" "13i" "0000175509" "00005471" "10" "1002" "42" "1002" "43" "c.1002+42_1002+43ins(45)" "r.(?)" "p.(=)" "13" "0000175510" "00005471" "10" "1002" "43" "1002" "43" "c.1002+43A>G" "r.(?)" "p.(=)" "13i" "0000175511" "00005471" "10" "1002" "43" "1002" "52" "c.1002+43_1002+52del" "r.(?)" "p.(=)" "13i" "0000175512" "00005471" "10" "1002" "44" "1002" "82" "c.1002+44_1002+82del" "r.(?)" "p.(=)" "13i" "0000175513" "00005471" "10" "1002" "45" "1002" "45" "c.1002+45T>C" "r.(?)" "p.(=)" "13i" "0000175514" "00005471" "10" "1002" "50" "1002" "50" "c.1002+50C>A" "r.(?)" "p.(=)" "13i" "0000175515" "00005471" "10" "1002" "50" "1002" "50" "c.1002+50C>T" "r.(?)" "p.(=)" "13i" "0000175516" "00005471" "50" "1024" "0" "1032" "0" "c.1024_1032del" "r.(?)" "p.(Leu342_Gly344del)" "14" "0000175517" "00005471" "10" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(=)" "14" "0000175518" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(=)" "15" "0000175519" "00005471" "10" "1119" "39" "1119" "39" "c.1119+39C>T" "r.(?)" "p.(=)" "15i" "0000175520" "00005471" "10" "1120" "-12" "1120" "-12" "c.1120-12G>A" "r.(?)" "p.(=)" "15i" "0000175521" "00005471" "10" "1273" "-8" "1273" "-8" "c.1273-8C>T" "r.(?)" "p.(=)" "18i" "0000175522" "00005471" "10" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(=)" "19" "0000175523" "00005471" "10" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439Gln)" "19" "0000175524" "00005471" "10" "1335" "27" "1335" "27" "c.1335+27A>C" "r.(?)" "p.(=)" "19i" "0000175525" "00005471" "50" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(=)" "20" "0000175526" "00005471" "50" "1398" "10" "1398" "10" "c.1398+10G>A" "r.(?)" "p.(=)" "20i" "0000175527" "00005471" "10" "1399" "-32" "1399" "-32" "c.1399-32T>C" "r.(?)" "p.(=)" "20i" "0000175528" "00005471" "10" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(=)" "21" "0000175529" "00005471" "10" "1461" "18" "1461" "18" "c.1461+18C>A" "r.(?)" "p.(=)" "21i" "0000175530" "00005471" "10" "1461" "41" "1461" "41" "c.1461+41dup" "r.(?)" "p.(=)" "21i" "0000175531" "00005471" "10" "1462" "-36" "1462" "-36" "c.1462-36A>G" "r.(?)" "p.(=)" "21i" "0000175532" "00005471" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "22" "0000175533" "00005471" "10" "1518" "0" "1518" "0" "c.1518T>C" "r.(?)" "p.(=)" "22" "0000175534" "00005471" "10" "1524" "15" "1524" "15" "c.1524+15G>A" "r.(?)" "p.(=)" "22i" "0000175535" "00005471" "10" "1524" "19" "1524" "19" "c.1524+19G>C" "r.(?)" "p.(=)" "22i" "0000175536" "00005471" "10" "1525" "-60" "1525" "-60" "c.1525-60A>G" "r.(?)" "p.(=)" "22i" "0000175537" "00005471" "10" "1612" "-10" "1612" "-10" "c.1612-10G>A" "r.(?)" "p.(=)" "24i" "0000175538" "00005471" "10" "1612" "-6" "1612" "-6" "c.1612-6C>T" "r.(?)" "p.(=)" "24i" "0000175539" "00005471" "50" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(=)" "25" "0000175540" "00005471" "10" "1675" "-55" "1675" "-55" "c.1675-55C>T" "r.(?)" "p.(=)" "25i" "0000175541" "00005471" "10" "1740" "50" "1740" "50" "c.1740+50C>T" "r.(?)" "p.(=)" "26i" "0000175542" "00005471" "10" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" "p.(=)" "27" "0000175543" "00005471" "10" "1813" "25" "1813" "25" "c.1813+25T>G" "r.(?)" "p.(=)" "28i" "0000175544" "00005471" "10" "1814" "-6" "1814" "-6" "c.1814-6C>G" "r.(?)" "p.(=)" "28i" "0000175545" "00005471" "10" "1822" "42" "1822" "42" "c.1822+42G>C" "r.(?)" "p.(=)" "29i" "0000175546" "00005471" "10" "1822" "45" "1822" "45" "c.1822+45C>G" "r.(?)" "p.(=)" "29i" "0000175547" "00005471" "50" "1822" "45" "1822" "45" "c.1822+45C>T" "r.(?)" "p.(=)" "29i" "0000175548" "00005471" "10" "1822" "80" "1822" "80" "c.1822+80G>A" "r.(?)" "p.(=)" "29i" "0000175549" "00005471" "10" "1822" "88" "1822" "88" "c.1822+88A>G" "r.(?)" "p.(=)" "29i" "0000175550" "00005471" "10" "1823" "-31" "1823" "-31" "c.1823-31C>T" "r.(?)" "p.(=)" "29i" "0000175551" "00005471" "50" "1823" "-8" "1823" "-8" "c.1823-8G>A" "r.(?)" "p.(=)" "29i" "0000175552" "00005471" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(=)" "30" "0000175553" "00005471" "50" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Arg644Gln)" "30" "0000175554" "00005471" "10" "1956" "15" "1956" "15" "c.1956+15C>T" "r.(?)" "p.(=)" "30i" "0000175555" "00005471" "10" "1957" "-11" "1957" "-11" "c.1957-11C>T" "r.(?)" "p.(=)" "30i" "0000175556" "00005471" "10" "1957" "-5" "1957" "-5" "c.1957-5C>T" "r.(?)" "p.(=)" "30i" "0000175557" "00005471" "10" "2042" "0" "2042" "0" "c.2042T>C" "r.(?)" "p.(Ile681Thr)" "31" "0000175558" "00005471" "10" "2061" "0" "2061" "0" "c.2061C>A" "r.(?)" "p.(=)" "31" "0000175559" "00005471" "10" "2067" "-10" "2067" "-10" "c.2067-10T>C" "r.(?)" "p.(=)" "31i" "0000175560" "00005471" "50" "2091" "0" "2091" "0" "c.2091G>A" "r.(?)" "p.(Met697Ile)" "32" "0000175561" "00005471" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(=)" "32" "0000175562" "00005471" "50" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731Cys)" "32" "0000175563" "00005471" "10" "2251" "-29" "2251" "-29" "c.2251-29C>T" "r.(?)" "p.(=)" "32i" "0000175564" "00005471" "50" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "33" "0000175565" "00005471" "50" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gln808His)" "33" "0000175566" "00005471" "50" "2434" "14" "2434" "15" "c.2434+14_2434+15ins2434+21_2434+54" "r.(?)" "p.(=)" "33i" "0000175567" "00005471" "10" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(?)" "p.(=)" "33i" "0000175568" "00005471" "10" "2434" "20" "2434" "20" "c.2434+20G>A" "r.(?)" "p.(=)" "33i" "0000175569" "00005471" "10" "2434" "55" "2434" "55" "c.2434+55G>A" "r.(?)" "p.(=)" "33i" "0000175570" "00005471" "50" "2435" "-36" "2435" "-36" "c.2435-36A>C" "r.(?)" "p.(=)" "33i" "0000175571" "00005471" "10" "2435" "-19" "2435" "-19" "c.2435-19C>T" "r.(?)" "p.(=)" "33i" "0000175572" "00005471" "10" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Lys814Arg)" "34" "0000175573" "00005471" "10" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(=)" "35" "0000175574" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850His)" "35" "0000175575" "00005471" "50" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872Trp)" "35" "0000175576" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.(?)" "p.(=)" "35" "0000175577" "00005471" "10" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ser890Leu)" "35" "0000175578" "00005471" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(=)" "35" "0000175579" "00005471" "10" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(=)" "35" "0000175580" "00005471" "10" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Arg928His)" "35" "0000175581" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(=)" "35" "0000175582" "00005471" "50" "2865" "0" "2865" "0" "c.2865C>T" "r.(?)" "p.(=)" "35" "0000175762" "00005471" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Glu)" "9" "0000175764" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175765" "00005471" "70" "1568" "0" "1575" "1" "c.1568_1575+1del" "r.spl" "p.?" "23_23i" "0000175766" "00005471" "90" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Gly263Cys)" "8" "0000175767" "00005471" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "9" "0000175768" "00005471" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "9" "0000175769" "00005471" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "9" "0000175770" "00005471" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "9" "0000175771" "00005471" "90" "842" "0" "842" "0" "c.842G>C" "r.(?)" "p.(Gly281Ala)" "9" "0000175772" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175773" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175774" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175775" "00005471" "90" "850" "0" "850" "0" "c.850G>C" "r.(?)" "p.(Gly284Arg)" "9" "0000175776" "00005471" "90" "850" "0" "850" "0" "c.850G>C" "r.(?)" "p.(Gly284Arg)" "9" "0000175777" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175778" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175780" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175781" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175782" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175783" "00005471" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Cys)" "2" "0000175784" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175785" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175786" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175787" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175788" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175789" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175790" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175791" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175792" "00005471" "90" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Glu)" "10" "0000175793" "00005471" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "10" "0000175794" "00005471" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "10" "0000175795" "00005471" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "10" "0000175796" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175797" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175798" "00005471" "90" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Gly293Glu)" "10" "0000175800" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175801" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175802" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175803" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175804" "00005471" "90" "887" "0" "887" "0" "c.887G>T" "r.(?)" "p.(Gly296Val)" "10" "0000175806" "00005471" "90" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Arg)" "11" "0000175828" "00005471" "90" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "17" "0000175829" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175830" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175831" "00005471" "90" "805" "0" "805" "0" "c.805G>C" "r.(?)" "p.(Gly269Arg)" "9" "0000175836" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175837" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175840" "00005471" "50" "1763" "0" "1763" "0" "c.1763C>T" "r.(?)" "p.(Pro588Leu)" "27" "0000175841" "00005471" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "9" "0000175843" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175844" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175847" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175848" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175849" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175850" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175851" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000175852" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175853" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175854" "00005471" "90" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Glu)" "10" "0000175855" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175856" "00005471" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Glu)" "10" "0000175857" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175865" "00005471" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Val117Met)" "3" "0000175866" "00005471" "90" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Gly341Cys)" "14" "0000175867" "00005471" "90" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "10" "0000175869" "00005471" "90" "-1" "0" "3088" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_35_" "0000175870" "00005471" "90" "-1" "0" "3088" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_35_" "0000175871" "00005471" "90" "819" "0" "833" "0" "c.819_833del" "r.(?)" "p.Pro274_Gly278del" "9" "0000175876" "00005471" "90" "2328" "0" "2331" "0" "c.2328_2331dup" "r.2327_2330dup" "p.Ala778Profs*52" "33" "0000175877" "00005471" "90" "798" "0" "804" "8" "c.798_804+8del" "r.760_804del" "p.Pro254_Glu268del" "8_8i" "0000175884" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175891" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175892" "00005471" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "5" "0000175893" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175894" "00005471" "90" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "14" "0000175895" "00005471" "90" "1247" "0" "1247" "0" "c.1247G>T" "r.spl" "p.(Gly416Val)" "19" "0000175896" "00005471" "90" "811" "0" "811" "0" "c.811C>T" "r.spl?" "p.(Arg271*)" "9i" "0000175897" "00005471" "90" "717" "4" "717" "4" "c.717+4A>G" "r.[=, 717_718ins717+1_718-1{717+4a>g}]" "p.[=, Ile239fs*30]" "5i" "0000175898" "00005471" "90" "350" "0" "350" "0" "c.350T>C" "r.350u>c" "p.Val117Ala" "3" "0000175899" "00005471" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "3" "0000175900" "00005471" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "5" "0000175901" "00005471" "90" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "5" "0000175902" "00005471" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "9" "0000175903" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175904" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000175905" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175906" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175907" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000175908" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175909" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175910" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175911" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000175912" "00005471" "90" "893" "0" "898" "0" "c.893_898del" "r.893_898del" "p.Gln298_Met300delinsLeu" "10" "0000175913" "00005471" "90" "904" "-10" "904" "-10" "c.904-10G>A" "r.904_930del" "p.Gly302_Lys310del" "10i" "0000175914" "00005471" "90" "930" "1" "930" "1" "c.930+1G>A" "r.spl" "p.?" "11i" "0000175915" "00005471" "90" "931" "-3" "931" "-3" "c.931-3C>G" "r.spl?" "p.0" "11i" "0000175916" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175917" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175918" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175919" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175920" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175921" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000175922" "00005471" "90" "1056" "5" "1056" "5" "c.1056+5G>A" "r.1003_1056del" "p.Gly335_Asp352del" "14i" "0000175923" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.spl" "p.?" "3i" "0000175986" "00005471" "50" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Gly287Arg)" "10" "0000175987" "00005471" "50" "930" "2" "930" "2" "c.930+2T>G" "r.spl?" "p.?" "11i" "0000175989" "00005471" "90" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Gly341Cys)" "14" "0000175990" "00005471" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565*)" "26" "0000175992" "00005471" "90" "1465" "0" "1465" "0" "c.1465del" "r.(?)" "p.(Ala489Profs*16)" "22" "0000175994" "00005471" "90" "1977" "0" "1977" "0" "c.1977C>G" "r.[1977C>G, 1957_2066del]" "p.[Tyr659*, Phe653Serfs*39]" "31" "0000176004" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000176005" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000176020" "00005471" "90" "857" "0" "857" "0" "c.857del" "r.(?)" "p.(Pro286Leufs*15)" "9" "0000176021" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000176022" "00005471" "10" "2669" "0" "2669" "0" "c.2669C>T" "r.2669c>u" "p.Ser890Leu" "35" "0000176028" "00005471" "90" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Gly290Arg)" "10" "0000176055" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000176082" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000176083" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000176152" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000176153" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.1095u>c" "p.=" "15" "0000176154" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000176155" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000176208" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000176209" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.2549g>a" "p.Arg850His" "35" "0000176210" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000176211" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000176212" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000176237" "00005471" "10" "2670" "0" "2670" "0" "c.2670G>A" "r.2670g>a" "p.=" "35" "0000176262" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.2796c>u" "p.=" "35" "0000176263" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.2667g>a" "p.=" "35" "0000176293" "00005471" "10" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "3" "0000176297" "00005471" "50" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Ala838Thr)" "35" "0000176304" "00005471" "30" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Arg682Gln)" "31" "0000176315" "00005471" "70" "1568" "0" "1575" "1" "c.1568_1575+1del" "r.spl" "p.?" "23_23i" "0000176316" "00005471" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Val117Met)" "3" "0000176317" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000176318" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000176322" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000176323" "00005471" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Glu)" "11" "0000176328" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000176329" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000176330" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000176344" "00005471" "90" "2250" "1" "2250" "1" "c.2250+1G>C" "r.[2067_2250del, 2250_2251ins2250+1_2251-1{2250+1g>c}]" "p.[Ala690fs, Val751fs]" "32i" "0000176349" "00005471" "90" "424" "0" "424" "0" "c.424G>A" "r.424g>A" "p.Val142Met" "3" "0000176360" "00005471" "90" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gln808His)" "33" "0000176361" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000176362" "00005471" "90" "1272" "1" "1272" "1" "c.1272+1G>C" "r.spl" "p.?" "18i" "0000176363" "00005471" "90" "717" "4" "717" "4" "c.717+4A>G" "r.spl?" "p.?" "5i" "0000176364" "00005471" "90" "717" "4" "717" "4" "c.717+4A>G" "r.[=, 717_718ins717+1_718-1{717+4a>g}]" "p.[=, Ile239fs*30]" "5i" "0000176382" "00005471" "90" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Leu162Argfs*15)" "4" "0000239954" "00005471" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "3" "0000247675" "00005471" "10" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Lys814Arg)" "" "0000247678" "00005471" "10" "428" "14" "428" "14" "c.428+14A>G" "r.(=)" "p.(=)" "" "0000247679" "00005471" "10" "859" "-19" "859" "-19" "c.859-19A>G" "r.(=)" "p.(=)" "" "0000247680" "00005471" "10" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(=)" "p.(=)" "" "0000247684" "00005471" "10" "1335" "27" "1335" "27" "c.1335+27A>C" "r.(=)" "p.(=)" "" "0000247685" "00005471" "10" "3347" "0" "3347" "0" "c.*260A>G" "r.(=)" "p.(=)" "" "0000247686" "00005471" "30" "2431" "0" "2431" "0" "c.2431A>G" "r.(?)" "p.(Ile811Val)" "" "0000247687" "00005471" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "" "0000247689" "00005471" "90" "805" "-2" "805" "-2" "c.805-2A>G" "r.spl?" "p.?" "" "0000248457" "00005471" "10" "428" "14" "428" "14" "c.428+14A>G" "r.(=)" "p.(=)" "" "0000248458" "00005471" "10" "859" "-19" "859" "-19" "c.859-19A>G" "r.(=)" "p.(=)" "" "0000248459" "00005471" "10" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(=)" "p.(=)" "" "0000251734" "00005471" "30" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Lys814Arg)" "" "0000264788" "00005471" "10" "-5" "0" "-5" "0" "c.-5C>G" "r.(?)" "p.(=)" "" "0000264789" "00005471" "10" "3444" "0" "3456" "0" "c.*357_*369del" "r.(=)" "p.(=)" "" "0000264790" "00005471" "30" "1002" "6" "1002" "24" "c.1002+6_1002+24del" "r.(=)" "p.(=)" "" "0000264791" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "" "0000264792" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(Gly365=)" "" "0000264793" "00005471" "10" "1120" "-12" "1120" "-12" "c.1120-12G>A" "r.(=)" "p.(=)" "" "0000264794" "00005471" "10" "1182" "3" "1182" "3" "c.1182+3G>A" "r.spl?" "p.?" "" "0000264795" "00005471" "10" "1461" "18" "1461" "18" "c.1461+18C>A" "r.(=)" "p.(=)" "" "0000264796" "00005471" "10" "1524" "19" "1524" "19" "c.1524+19G>C" "r.(=)" "p.(=)" "" "0000264797" "00005471" "10" "1957" "-5" "1957" "-5" "c.1957-5C>T" "r.spl?" "p.?" "" "0000264798" "00005471" "10" "2434" "20" "2434" "20" "c.2434+20G>A" "r.(=)" "p.(=)" "" "0000264799" "00005471" "10" "2435" "-19" "2435" "-19" "c.2435-19C>T" "r.(=)" "p.(=)" "" "0000264800" "00005471" "50" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Pro827=)" "" "0000264801" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850His)" "" "0000264802" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.(?)" "p.(Ala889=)" "" "0000264803" "00005471" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asp912=)" "" "0000264804" "00005471" "10" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0000264805" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(Ser932=)" "" "0000264806" "00005471" "50" "344" "0" "344" "0" "c.344G>C" "r.(?)" "p.(Ser115Thr)" "" "0000264807" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "" "0000264809" "00005471" "10" "429" "-19" "429" "-19" "c.429-19G>A" "r.(=)" "p.(=)" "" "0000264811" "00005471" "10" "588" "13" "588" "13" "c.588+13C>A" "r.(=)" "p.(=)" "" "0000264812" "00005471" "10" "739" "-51" "739" "-51" "c.739-51C>T" "r.(=)" "p.(=)" "" "0000264813" "00005471" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Gly263Asp)" "" "0000264814" "00005471" "70" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000264815" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000264816" "00005471" "10" "859" "-20" "859" "-20" "c.859-20C>T" "r.(=)" "p.(=)" "" "0000264817" "00005471" "50" "862" "0" "864" "0" "c.862_864del" "r.(?)" "p.(Arg288del)" "" "0000264818" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000264819" "00005471" "70" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Gly299Glu)" "" "0000264820" "00005471" "10" "903" "14" "903" "14" "c.903+14C>A" "r.(=)" "p.(=)" "" "0000264821" "00005471" "90" "957" "2" "957" "2" "c.957+2T>C" "r.spl?" "p.?" "" "0000264822" "00005471" "10" "958" "-17" "958" "-17" "c.958-17G>A" "r.(=)" "p.(=)" "" "0000264823" "00005471" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "0000266994" "00005471" "10" "-5" "0" "-5" "0" "c.-5C>G" "r.(?)" "p.(=)" "" "0000266995" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(Gly365=)" "" "0000266996" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850His)" "" "0000266997" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.(?)" "p.(Ala889=)" "" "0000266998" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(Ser932=)" "" "0000266999" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "" "0000267000" "00005471" "10" "588" "13" "588" "13" "c.588+13C>A" "r.(=)" "p.(=)" "" "0000270495" "00005471" "30" "1182" "3" "1182" "3" "c.1182+3G>A" "r.spl?" "p.?" "" "0000270496" "00005471" "10" "1814" "-6" "1814" "-6" "c.1814-6C>G" "r.(=)" "p.(=)" "" "0000270497" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "" "0000274274" "00005471" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0000274275" "00005471" "30" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Gly699=)" "" "0000328712" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "" "0000328713" "00005471" "30" "588" "19" "588" "19" "c.588+19dup" "r.(=)" "p.(=)" "" "0000328715" "00005471" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Cys)" "" "0000328717" "00005471" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Asp393=)" "" "0000328719" "00005471" "30" "1273" "-8" "1273" "-8" "c.1273-8C>T" "r.(=)" "p.(=)" "" "0000328720" "00005471" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Thr438=)" "" "0000328721" "00005471" "50" "1336" "-17" "1336" "-17" "c.1336-17G>A" "r.(=)" "p.(=)" "" "0000328722" "00005471" "30" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Gln451Arg)" "" "0000328723" "00005471" "30" "1524" "15" "1524" "15" "c.1524+15G>A" "r.(=)" "p.(=)" "" "0000328725" "00005471" "30" "1675" "-16" "1675" "-16" "c.1675-16C>T" "r.(=)" "p.(=)" "" "0000328727" "00005471" "30" "1823" "-8" "1823" "-8" "c.1823-8G>A" "r.(=)" "p.(=)" "" "0000328728" "00005471" "30" "1957" "-20" "1957" "-20" "c.1957-20C>T" "r.(=)" "p.(=)" "" "0000328729" "00005471" "30" "1957" "-5" "1957" "-5" "c.1957-5C>T" "r.spl?" "p.?" "" "0000328733" "00005471" "30" "2434" "14" "2434" "15" "c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC" "r.(=)" "p.(=)" "" "0000328734" "00005471" "30" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asp912=)" "" "0000338157" "00005471" "10" "-5" "0" "-5" "0" "c.-5C>G" "r.(?)" "p.(=)" "" "0000338158" "00005471" "90" "98" "-2" "98" "-2" "c.98-2A>G" "r.spl?" "p.?" "" "0000338159" "00005471" "10" "428" "14" "428" "14" "c.428+14A>G" "r.(=)" "p.(=)" "" "0000338160" "00005471" "10" "429" "-19" "429" "-19" "c.429-19G>A" "r.(=)" "p.(=)" "" "0000338161" "00005471" "30" "588" "12" "588" "13" "c.588+12_588+13insA" "r.(=)" "p.(=)" "" "0000338162" "00005471" "10" "588" "13" "588" "13" "c.588+13C>A" "r.(=)" "p.(=)" "" "0000338163" "00005471" "10" "859" "-19" "859" "-19" "c.859-19A>G" "r.(=)" "p.(=)" "" "0000338164" "00005471" "10" "903" "14" "903" "14" "c.903+14C>A" "r.(=)" "p.(=)" "" "0000338165" "00005471" "90" "930" "2" "930" "2" "c.930+2T>A" "r.spl?" "p.?" "" "0000338166" "00005471" "70" "930" "189" "930" "189" "c.930+189C>T" "r.(=)" "p.(=)" "" "0000338167" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "" "0000338169" "00005471" "10" "1461" "18" "1461" "18" "c.1461+18C>A" "r.(=)" "p.(=)" "" "0000338171" "00005471" "10" "1524" "19" "1524" "19" "c.1524+19G>C" "r.(=)" "p.(=)" "" "0000338172" "00005471" "50" "1823" "-13" "1823" "-13" "c.1823-13C>T" "r.(=)" "p.(=)" "" "0000338173" "00005471" "30" "1823" "-8" "1823" "-8" "c.1823-8G>A" "r.(=)" "p.(=)" "" "0000338174" "00005471" "10" "1956" "15" "1956" "15" "c.1956+15C>T" "r.(=)" "p.(=)" "" "0000338175" "00005471" "30" "1956" "18" "1956" "18" "c.1956+18C>G" "r.(=)" "p.(=)" "" "0000338176" "00005471" "10" "1957" "-11" "1957" "-11" "c.1957-11C>T" "r.(=)" "p.(=)" "" "0000338177" "00005471" "10" "1957" "-5" "1957" "-5" "c.1957-5C>T" "r.spl?" "p.?" "" "0000338178" "00005471" "10" "2434" "14" "2434" "15" "c.2434+14_2434+15insGCCCGA" "r.(=)" "p.(=)" "" "0000338179" "00005471" "50" "2434" "14" "2434" "15" "c.2434+14_2434+15insGCCCGG" "r.(=)" "p.(=)" "" "0000338180" "00005471" "10" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(=)" "p.(=)" "" "0000338181" "00005471" "30" "2434" "19" "2434" "20" "c.2434+19_2434+20insA" "r.(=)" "p.(=)" "" "0000338182" "00005471" "10" "2435" "-19" "2435" "-19" "c.2435-19C>T" "r.(=)" "p.(=)" "" "0000338183" "00005471" "30" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Val840=)" "" "0000338970" "00005471" "90" "957" "1" "957" "1" "c.957+1G>A" "r.spl?" "p.?" "" "0000340137" "00005471" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(Gly365=)" "" "0000340138" "00005471" "30" "1689" "0" "1689" "0" "c.1689A>C" "r.(?)" "p.(Ala563=)" "" "0000340139" "00005471" "10" "2667" "0" "2667" "0" "c.2667G>A" "r.(?)" "p.(Ala889=)" "" "0000340140" "00005471" "10" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(Ser932=)" "" "0000340734" "00005471" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asp912=)" "" "0000340829" "00005471" "30" "2865" "0" "2865" "0" "c.2865C>T" "r.(?)" "p.(Ile955=)" "" "0000340927" "00005471" "10" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" "p.(Pro591=)" "" "0000340979" "00005471" "30" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Ser879=)" "" "0000341023" "00005471" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Thr710=)" "" "0000341027" "00005471" "30" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Thr823=)" "" "0000341046" "00005471" "10" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0000341541" "00005471" "30" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Ala660Thr)" "" "0000342892" "00005471" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000343423" "00005471" "10" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850His)" "" "0000345000" "00005471" "70" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Gln895Ter)" "" "0000345940" "00005471" "70" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Glu)" "" "0000345950" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000345959" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000345962" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000345996" "00005471" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Gly329Arg)" "" "0000346139" "00005471" "50" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Gly523Asp)" "" "0000346212" "00005471" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Gly661Asp)" "" "0000346621" "00005471" "50" "571" "0" "571" "0" "c.571A>T" "r.(?)" "p.(Ile191Phe)" "" "0000346787" "00005471" "10" "2042" "0" "2042" "0" "c.2042T>C" "r.(?)" "p.(Ile681Thr)" "" "0000347654" "00005471" "30" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Lys814Arg)" "" "0000347674" "00005471" "50" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" "p.(Lys937Glu)" "" "0000348669" "00005471" "10" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Ser116Asn)" "" "0000349200" "00005471" "10" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ser890Leu)" "" "0000350367" "00005471" "50" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Val186Leu)" "" "0000351214" "00005471" "90" "428" "2" "428" "2" "c.428+2T>G" "r.spl?" "p.?" "" "0000351215" "00005471" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Ile235=)" "" "0000351216" "00005471" "30" "2067" "-10" "2067" "-10" "c.2067-10T>C" "r.(=)" "p.(=)" "" "0000439093" "00005471" "90" "1002" "2" "1002" "2" "c.1002+2T>C" "r.(?)" "p.?" "" "0000441259" "00005471" "90" "1003" "-2" "1003" "-2" "c.1003-2A>G" "r.spl" "p.?" "" "0000459020" "00005471" "90" "128" "0" "128" "0" "c.128A>C" "r.(?)" "p.(Asp43Ala)" "" "0000461387" "00005471" "50" "1908" "0" "1908" "0" "c.1908C>G" "r.(?)" "p.(Asp636Glu)" "30" "0000461388" "00005471" "50" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Glu857Lys)" "35" "0000461389" "00005471" "50" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Arg682Gln)" "31" "0000461390" "00005471" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Gly183Asp)" "4" "0000461391" "00005471" "50" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(=)" "33" "0000461392" "00005471" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "35" "0000461393" "00005471" "70" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Gly535Arg)" "24" "0000461394" "00005471" "50" "957" "7" "957" "7" "c.957+7G>A" "r.spl" "p.(=)" "12i" "0000461395" "00005471" "90" "931" "-1" "931" "-1" "c.931-1G>A" "r.spl" "p.?" "11i" "0000461396" "00005471" "90" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Gly476Alafs*29)" "21" "0000461397" "00005471" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "35" "0000461398" "00005471" "50" "3095" "0" "3095" "0" "c.*8T>G" "r.(?)" "p.(=)" "3\'UTR" "0000461399" "00005471" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "35" "0000461400" "00005471" "50" "350" "0" "350" "0" "c.350T>C" "r.(?)" "p.(Val117Ala)" "3" "0000461401" "00005471" "70" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Gly305Glu)" "11" "0000461402" "00005471" "50" "2986" "0" "2986" "0" "c.2986G>A" "r.(?)" "p.(Val996Met)" "35" "0000461403" "00005471" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Ala255Thr)" "8" "0000461404" "00005471" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "14" "0000461405" "00005471" "50" "2554" "0" "2554" "0" "c.2554G>C" "r.(?)" "p.(Ala852Pro)" "35" "0000461406" "00005471" "50" "1399" "-3" "1399" "-3" "c.1399-3C>T" "r.(?)" "p.(?)" "20i" "0000461407" "00005471" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "14" "0000461408" "00005471" "70" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Gly338Glu)" "14" "0000461409" "00005471" "50" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Gly109Ser)" "3" "0000461410" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>T" "r.(?)" "p.(Gly341Val)" "14" "0000461411" "00005471" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" "7" "0000461412" "00005471" "50" "2285" "0" "2285" "0" "c.2285T>C" "r.(?)" "p.(Phe762Ser)" "33" "0000461413" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000461414" "00005471" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "35" "0000461415" "00005471" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Cys)" "2" "0000461416" "00005471" "50" "424" "0" "424" "0" "c.424G>C" "r.(?)" "p.(Val142Leu)" "3" "0000461417" "00005471" "50" "2856" "0" "2856" "0" "c.2856C>T" "r.(?)" "p.(=)" "35" "0000461418" "00005471" "50" "409" "0" "409" "0" "c.409C>G" "r.(?)" "p.(Leu137Val)" "3" "0000461419" "00005471" "70" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "9" "0000461420" "00005471" "50" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(Glu46Asp)" "2" "0000461421" "00005471" "50" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" 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"p.(Val871Met)" "35" "0000461663" "00005471" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "5" "0000461664" "00005471" "90" "930" "1" "930" "1" "c.930+1G>A" "r.spl" "p.?" "11i" "0000461665" "00005471" "50" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Asp918Asn)" "35" "0000461666" "00005471" "90" "2435" "-2" "2435" "-2" "c.2435-2A>G" "r.spl" "p.?" "33i" "0000461667" "00005471" "50" "717" "4" "717" "4" "c.717+4A>G" "r.spl?" "p.?" "5i" "0000461668" "00005471" "50" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" "p.(Lys937Glu)" "35" "0000461669" "00005471" "90" "930" "1" "930" "1" "c.930+1G>A" "r.spl" "p.?" "11i" "0000461670" "00005471" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "14" "0000461671" "00005471" "50" "-1" "0" "-1" "0" "c.-1C>T" "r.(?)" "p.(=)" "5\' UTR" "0000461672" "00005471" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "5" "0000461673" "00005471" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "14" "0000461674" "00005471" "50" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Ile967Val)" "35" "0000461675" "00005471" "50" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Leu941Phe)" "35" "0000461676" "00005471" "50" "1830" "0" "1830" "0" "c.1830G>T" "r.(?)" "p.(Lys610Asn)" "30" "0000461677" "00005471" "50" "2611" "0" "2611" "0" "c.2611G>A" "r.(?)" "p.(Val871Met)" "35" "0000461678" "00005471" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Pro716Leu)" "32" "0000461679" "00005471" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "5" "0000461680" "00005471" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" "7" "0000473836" "00005471" "90" "1667" "0" "1667" "0" "c.1667G>T" "r.(?)" "p.(Gly556Val)" "25" "0000570969" "00005471" "30" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(Pro35=)" "" "0000570970" "00005471" "10" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Thr127=)" "" "0000570971" "00005471" "10" "588" "19" "588" "19" "c.588+19dup" "r.(=)" "p.(=)" "" "0000570972" "00005471" "30" "589" "-7" "589" "-7" "c.589-7C>G" "r.(=)" "p.(=)" "" "0000570973" "00005471" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(Arg222=)" "" "0000570975" "00005471" "50" "804" "5" "804" "5" "c.804+5G>A" "r.spl?" "p.?" "" "0000570976" "00005471" "70" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Gly269Glu)" "" "0000570977" "00005471" "90" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Gly296Glu)" "" "0000570978" "00005471" "70" "904" "-10" "904" "-10" "c.904-10G>A" "r.(=)" "p.(=)" "" "0000570979" "00005471" "70" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Gly311Val)" "" "0000570980" "00005471" "90" "958" "-2" "958" "-2" "c.958-2A>G" "r.spl?" "p.?" "" "0000570981" "00005471" "30" "1002" "6" "1002" "88" "c.1002+6_1002+88del" "r.(=)" "p.(=)" "" "0000570982" "00005471" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Asp352=)" "" "0000570983" "00005471" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "0000570984" "00005471" "30" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Leu369=)" "" "0000570986" "00005471" "30" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000570987" "00005471" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Pro459Ser)" "" "0000570988" "00005471" "30" "1399" "-3" "1399" "-3" "c.1399-3C>T" "r.spl?" "p.?" "" "0000570989" "00005471" "30" "1814" "-6" "1814" "-6" "c.1814-6C>G" "r.(=)" "p.(=)" "" "0000570992" "00005471" "10" "1956" "15" "1956" "15" "c.1956+15C>T" "r.(=)" "p.(=)" "" "0000570993" "00005471" "10" "1957" "-11" "1957" "-11" "c.1957-11C>T" "r.(=)" "p.(=)" "" "0000570995" "00005471" "30" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Thr710=)" "" "0000570997" "00005471" "50" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "" "0000570999" "00005471" "30" "2424" "0" "2424" "0" "c.2424G>T" "r.(?)" "p.(Gln808His)" "" "0000571001" "00005471" "30" "2434" "15" "2434" "54" "c.2434+15_2434+54del" "r.(=)" "p.(=)" "" "0000571002" "00005471" "30" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Val840=)" "" "0000571003" "00005471" "30" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Ser879Gly)" "" "0000571005" "00005471" "10" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ser890Leu)" "" "0000571007" "00005471" "30" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Arg928His)" "" "0000571008" "00005471" "30" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Gly933Ser)" "" "0000571011" "00005471" "30" "2856" "0" "2856" "0" "c.2856C>T" "r.(?)" "p.(Pro952=)" "" "0000571014" "00005471" "30" "2873" "0" "2873" "0" "c.2873C>A" "r.(?)" "p.(Ala958Asp)" "" "0000571015" "00005471" "10" "3506" "0" "3506" "0" "c.*419A>G" "r.(=)" "p.(=)" "" "0000597748" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins930+116_930+187" "p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK" "11I" "0000597749" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins930+116_930+187" "p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK" "11I" "0000597750" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597751" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597752" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597753" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597754" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597755" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597756" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597757" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597758" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597759" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597760" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597761" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597762" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597763" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597764" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597765" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597766" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597767" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins930+116_930+187" "p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK" "11I" "0000597768" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins930+116_930+187" "p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK" "11I" "0000597769" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597770" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597771" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597772" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597773" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597774" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597775" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597776" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597777" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597778" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597779" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597780" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597781" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000597782" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+188)" "p.(=)" "11I" "0000618416" "00005471" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Val638Ile)" "" "0000618417" "00005471" "30" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Lys814Arg)" "" "0000629460" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000629489" "00005471" "70" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Val156Leu)" "" "0000629562" "00005471" "70" "428" "1" "428" "1" "c.428+1G>T" "r.spl" "p.?" "" "0000629563" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>T" "r.spl" "p.?" "" "0000629564" "00005471" "70" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Glu)" "" "0000629565" "00005471" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000629566" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000629567" "00005471" "70" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000629568" "00005471" "70" "1056" "2" "1056" "2" "c.1056+2dup" "r.spl?" "p.?" "" "0000629569" "00005471" "70" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Gly290Arg)" "" "0000629654" "00005471" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000645295" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins(?)" "p.(=)" "" "0000645326" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.930_931ins(?)" "p.(=)" "" "0000646801" "00005471" "50" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Gly476Alafs*29)" "" "0000646816" "00005471" "50" "1716" "0" "1716" "0" "c.1716del" "r.(?)" "p.(Tyr573Thrfs*29)" "" "0000650887" "00005471" "50" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Ala570Thr)" "" "0000650888" "00005471" "10" "1823" "-31" "1823" "-31" "c.1823-31C>T" "r.(=)" "p.(=)" "" "0000650889" "00005471" "30" "1957" "-5" "1957" "-5" "c.1957-5C>T" "r.spl?" "p.?" "" "0000653046" "00005471" "10" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Arg928His)" "" "0000660688" "00005471" "50" "1825" "0" "1825" "0" "c.1825T>C" "r.(?)" "p.(Cys609Arg)" "" "0000665801" "00005471" "70" "930" "2" "930" "2" "c.930+2T>C" "r.(?)" "p.(?)" "" "0000669698" "00005471" "10" "1823" "-31" "1823" "-31" "c.1823-31C>T" "r.(=)" "p.(=)" "" "0000670714" "00005471" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Ala913Thr)" "" "0000670733" "00005471" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000670777" "00005471" "90" "1576" "-1" "1576" "-1" "c.1576-1G>T" "r.spl" "p.?" "" "0000675285" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000675318" "00005471" "70" "906" "0" "920" "0" "c.906_920dup" "r.(?)" "p.(Glu303_Arg307dup)" "" "0000675346" "00005471" "70" "906" "0" "920" "0" "c.906_920dup" "r.(?)" "p.(Glu303_Arg307dup)" "" "0000675347" "00005471" "70" "987" "0" "995" "0" "c.987_995del" "r.(?)" "p.(Asp331_Val333del)" "" "0000681751" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "" "0000681752" "00005471" "50" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Ser787Leu)" "" "0000693075" "00005471" "30" "1335" "20" "1335" "20" "c.1335+20G>C" "r.(=)" "p.(=)" "" "0000693076" "00005471" "30" "1612" "-6" "1612" "-6" "c.1612-6C>T" "r.(=)" "p.(=)" "" "0000693077" "00005471" "30" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Gly933Ser)" "" "0000697406" "00005471" "70" "717" "4" "717" "4" "c.717+4A>G" "r.spl?" "p.?" "" "0000697407" "00005471" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "" "0000697408" "00005471" "70" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000697409" "00005471" "70" "886" "0" "886" "0" "c.886G>C" "r.(?)" "p.(Gly296Arg)" "" "0000697410" "00005471" "70" "892" "0" "892" "0" "c.892C>A" "r.(?)" "p.(Gln298Lys)" "" "0000697411" "00005471" "70" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Gly299Glu)" "" "0000697412" "00005471" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Glu)" "" "0000697413" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000697414" "00005471" "70" "1855" "0" "1855" "0" "c.1855G>T" "r.(?)" "p.(Val619Leu)" "" "0000697415" "00005471" "70" "2435" "-2" "2435" "-2" "c.2435-2A>G" "r.spl" "p.?" "" "0000697416" "00005471" "70" "2821" "0" "2821" "0" "c.2821C>A" "r.(?)" "p.(Leu941Ile)" "" "0000698275" "00005471" "70" "2998" "0" "2998" "0" "c.2998G>T" "r.(?)" "p.(Glu1000Ter)" "" "0000699704" "00005471" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000727958" "00005471" "50" "98" "-3" "98" "-3" "c.98-3C>G" "r.spl?" "p.?" "" "0000727959" "00005471" "30" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(Pro35=)" "" "0000727960" "00005471" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000727961" "00005471" "90" "428" "1" "428" "1" "c.428+1G>A" "r.spl?" "p.?" "" "0000727962" "00005471" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Asp223Asn)" "" "0000727963" "00005471" "70" "739" "-1" "739" "-1" "c.739-1G>A" "r.spl?" "p.?" "" "0000727964" "00005471" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000727965" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000727967" "00005471" "50" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(Gly332=)" "" "0000727968" "00005471" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "" "0000727969" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "" "0000727970" "00005471" "50" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Glu372Gly)" "" "0000727971" "00005471" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Glu375Lys)" "" "0000727972" "00005471" "30" "1823" "-13" "1823" "-13" "c.1823-13C>T" "r.(=)" "p.(=)" "" "0000727973" "00005471" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Gly661Asp)" "" "0000727974" "00005471" "50" "2200" "0" "2200" "0" "c.2200A>G" "r.(?)" "p.(Thr734Ala)" "" "0000727975" "00005471" "50" "2411" "0" "2411" "0" "c.2411A>C" "r.(?)" "p.(Asn804Thr)" "" "0000727976" "00005471" "50" "2605" "0" "2605" "0" "c.2605C>T" "r.(?)" "p.(His869Tyr)" "" "0000727977" "00005471" "30" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Ser879Gly)" "" "0000727978" "00005471" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "" "0000727979" "00005471" "50" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" "p.(Lys937Glu)" "" "0000727980" "00005471" "50" "2873" "0" "2873" "0" "c.2873C>A" "r.(?)" "p.(Ala958Asp)" "" "0000727981" "00005471" "50" "2873" "0" "2873" "0" "c.2873C>A" "r.(?)" "p.(Ala958Asp)" "" "0000763682" "00005471" "90" "1496" "0" "1496" "0" "c.1496dup" "r.(?)" "p.(Gly500Trpfs*8)" "" "0000765171" "00005471" "70" "1003" "0" "1003" "0" "c.1003G>T" "r.(?)" "p.(Gly335Trp)" "14" "0000786820" "00005471" "70" "297" "0" "297" "0" "c.297del" "r.(?)" "p.(Ile100SerfsTer48)" "3" "0000786821" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000786822" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000786823" "00005471" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000786824" "00005471" "70" "1675" "-1" "1675" "-1" "c.1675-1G>C" "r.spl" "p.?" "25i" "0000787244" "00005471" "50" "225" "0" "225" "0" "c.225C>T" "r.spl" "p.?" "2" "0000787245" "00005471" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Ala88Thr)" "3" "0000791279" "00005471" "70" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Gly523Asp)" "" "0000809438" "00005471" "50" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Asp465Glu)" "" "0000809439" "00005471" "70" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl?" "p.?" "" "0000819180" "00005471" "70" "2821" "0" "2833" "0" "c.2821_2833del" "r.(?)" "p.(Leu941AlafsTer34)" "" "0000819181" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000819211" "00005471" "50" "1848" "0" "1850" "0" "c.1848_1850del" "r.(?)" "p.(Leu617del)" "" "0000823839" "00005471" "50" "1400" "0" "1400" "0" "c.1400G>C" "r.(?)" "p.(Gly467Ala)" "21" "0000823853" "00005471" "50" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Asp812=)" "34" "0000823872" "00005471" "70" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "14" "0000823873" "00005471" "50" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "33" "0000823882" "00005471" "50" "979" "0" "979" "0" "c.979A>G" "r.(?)" "p.(Ile327Val)" "13" "0000823887" "00005471" "70" "928" "0" "930" "0" "c.928_930del" "r.(?)" "p.(Lys310del)" "11" "0000823953" "00005471" "70" "1763" "0" "1763" "0" "c.1763C>T" "r.(?)" "p.(Pro588Leu)" "27" "0000823955" "00005471" "70" "1763" "0" "1763" "0" "c.1763C>T" "r.(?)" "p.(Pro588Leu)" "27" "0000831320" "00005471" "50" "1763" "0" "1763" "0" "c.1763C>T" "r.(?)" "p.(Pro588Leu)" "27" "0000831327" "00005471" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "9" "0000831328" "00005471" "70" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Gly278Glu)" "9" "0000831329" "00005471" "70" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Gly278Val)" "9" "0000831330" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000831331" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000831332" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000831333" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000831334" "00005471" "70" "886" "0" "886" "0" "c.886G>T" "r.(?)" "p.(Gly296Trp)" "10" "0000831335" "00005471" "90" "887" "0" "887" "0" "c.887G>T" "r.(?)" "p.(Gly296Val)" "10" "0000831336" "00005471" "90" "957" "1" "957" "1" "c.957+1G>A" "r.spl" "p.?" "13i" "0000831367" "00005471" "70" "112" "0" "129" "0" "c.112_129del" "r.(?)" "p.(Leu38_Asp43del)" "2" "0000831368" "00005471" "70" "112" "0" "129" "0" "c.112_129del" "r.(?)" "p.(Leu38_Asp43del)" "2" "0000831369" "00005471" "70" "380" "0" "380" "0" "c.380C>A" "r.(?)" "p.(Thr127Asn)" "3" "0000831370" "00005471" "70" "805" "-1" "805" "-1" "c.805-1G>C" "r.spl" "p.?" "8i" "0000831371" "00005471" "70" "859" "-1" "859" "-1" "c.859-1G>C" "r.spl" "p.?" "9i" "0000831372" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "10" "0000831374" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000831375" "00005471" "70" "903" "1" "903" "1" "c.903+1G>T" "r.spl" "p.?" "11i" "0000831376" "00005471" "70" "931" "-2" "931" "-2" "c.931-2A>C" "r.spl" "p.?" "11i" "0000831377" "00005471" "70" "957" "5" "957" "5" "c.957+5G>T" "r.spl?" "p.?" "13i" "0000831378" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000831379" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000831380" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000831381" "00005471" "70" "1056" "5" "1056" "5" "c.1056+5G>A" "r.spl?" "p.?" "14i" "0000833040" "00005471" "70" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "" "0000833065" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000833068" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000833085" "00005471" "70" "717" "4" "717" "4" "c.717+4A>G" "r.(?)" "p.(=,Ile239fs*31)" "" "0000833116" "00005471" "70" "817" "0" "817" "0" "c.817A>T" "r.(?)" "p.(Lys273Ter)" "" "0000833166" "00005471" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000855999" "00005471" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000856000" "00005471" "10" "228" "-140" "228" "-140" "c.228-140G>C" "r.(=)" "p.(=)" "" "0000856001" "00005471" "10" "428" "40" "428" "40" "c.428+40G>A" "r.(=)" "p.(=)" "" "0000856002" "00005471" "30" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Ala215=)" "" "0000856003" "00005471" "10" "739" "-51" "739" "-51" "c.739-51C>T" "r.(=)" "p.(=)" "" "0000856004" "00005471" "10" "805" "-208" "805" "-208" "c.805-208G>C" "r.(=)" "p.(=)" "" "0000856005" "00005471" "10" "858" "62" "858" "62" "c.858+62C>T" "r.(=)" "p.(=)" "" "0000856006" "00005471" "30" "859" "-20" "859" "-20" "c.859-20C>T" "r.(=)" "p.(=)" "" "0000856007" "00005471" "10" "903" "14" "903" "14" "c.903+14C>A" "r.(=)" "p.(=)" "" "0000856008" "00005471" "30" "958" "-17" "958" "-17" "c.958-17G>A" "r.(=)" "p.(=)" "" "0000856009" "00005471" "10" "1003" "-61" "1003" "-61" "c.1003-61T>G" "r.(=)" "p.(=)" "" "0000856010" "00005471" "10" "1335" "27" "1335" "27" "c.1335+27A>C" "r.(=)" "p.(=)" "" "0000856011" "00005471" "10" "1336" "-152" "1336" "-152" "c.1336-152G>T" "r.(=)" "p.(=)" "" "0000856012" "00005471" "10" "1399" "-32" "1399" "-32" "c.1399-32T>C" "r.(=)" "p.(=)" "" "0000856013" "00005471" "30" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(Glu481=)" "" "0000856014" "00005471" "10" "1461" "41" "1461" "41" "c.1461+41dup" "r.(=)" "p.(=)" "" "0000856015" "00005471" "10" "1462" "-36" "1462" "-36" "c.1462-36A>G" "r.(=)" "p.(=)" "" "0000856016" "00005471" "10" "1525" "-60" "1525" "-60" "c.1525-60A>G" "r.(=)" "p.(=)" "" "0000856017" "00005471" "10" "1576" "-78" "1576" "-78" "c.1576-78G>C" "r.(=)" "p.(=)" "" "0000856018" "00005471" "10" "1611" "217" "1611" "217" "c.1611+217T>C" "r.(=)" "p.(=)" "" "0000856019" "00005471" "10" "1612" "-80" "1612" "-80" "c.1612-80dup" "r.(=)" "p.(=)" "" "0000856020" "00005471" "10" "1675" "-55" "1675" "-55" "c.1675-55C>T" "r.(=)" "p.(=)" "" "0000856021" "00005471" "50" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Gly575Asp)" "" "0000856022" "00005471" "10" "1776" "91" "1776" "91" "c.1776+91C>T" "r.(=)" "p.(=)" "" "0000856023" "00005471" "10" "1813" "137" "1813" "137" "c.1813+137C>T" "r.(=)" "p.(=)" "" "0000856024" "00005471" "10" "1814" "-106" "1814" "-90" "c.1814-106_1814-90del" "r.(=)" "p.(=)" "" "0000856025" "00005471" "10" "1822" "42" "1822" "42" "c.1822+42G>C" "r.(=)" "p.(=)" "" "0000856026" "00005471" "10" "1822" "45" "1822" "45" "c.1822+45C>G" "r.(=)" "p.(=)" "" "0000856027" "00005471" "10" "1822" "88" "1822" "88" "c.1822+88A>G" "r.(=)" "p.(=)" "" "0000856028" "00005471" "10" "2434" "88" "2434" "88" "c.2434+88C>T" "r.(=)" "p.(=)" "" "0000856029" "00005471" "10" "2464" "70" "2464" "70" "c.2464+70C>G" "r.(=)" "p.(=)" "" "0000856030" "00005471" "50" "2518" "0" "2518" "0" "c.2518G>A" "r.(?)" "p.(Val840Met)" "" "0000856031" "00005471" "10" "3347" "0" "3347" "0" "c.*260A>G" "r.(=)" "p.(=)" "" "0000856032" "00005471" "10" "3506" "0" "3506" "0" "c.*419A>G" "r.(=)" "p.(=)" "" "0000866667" "00005471" "30" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000866668" "00005471" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Pro193=)" "" "0000866669" "00005471" "30" "739" "-18" "739" "-18" "c.739-18C>T" "r.(=)" "p.(=)" "" "0000866670" "00005471" "70" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Gly263Asp)" "" "0000866671" "00005471" "30" "903" "13" "903" "13" "c.903+13C>A" "r.(=)" "p.(=)" "" "0000866672" "00005471" "30" "1120" "-12" "1120" "-12" "c.1120-12G>A" "r.(=)" "p.(=)" "" "0000866673" "00005471" "30" "1182" "3" "1182" "3" "c.1182+3G>A" "r.spl?" "p.?" "" "0000866674" "00005471" "30" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" "p.(Pro591=)" "" "0000866675" "00005471" "50" "1940" "0" "1940" "0" "c.1940G>A" "r.(?)" "p.(Arg647Gln)" "" "0000866676" "00005471" "30" "2067" "-10" "2067" "-10" "c.2067-10T>C" "r.(=)" "p.(=)" "" "0000866677" "00005471" "30" "2435" "-19" "2435" "-19" "c.2435-19C>T" "r.(=)" "p.(=)" "" "0000866678" "00005471" "30" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Ser879Gly)" "" "0000866679" "00005471" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0000866680" "00005471" "50" "2821" "0" "2821" "0" "c.2821C>G" "r.(?)" "p.(Leu941Val)" "" "0000866681" "00005471" "30" "3078" "0" "3078" "0" "c.3078G>A" "r.(?)" "p.(Ala1026=)" "" "0000872046" "00005471" "90" "1056" "5" "1056" "5" "c.1056+5G>A" "r.spl" "p.?" "14i" "0000881142" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000881143" "00005471" "70" "887" "0" "887" "0" "c.887G>T" "r.(?)" "p.(Gly296Val)" "" "0000881262" "00005471" "70" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Arg)" "" "0000881355" "00005471" "90" "2460" "0" "2460" "0" "c.2460C>A" "r.(?)" "p.(Cys820Ter)" "" "0000895528" "00005471" "50" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Leu42=)" "" "0000895529" "00005471" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000895531" "00005471" "50" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Pro483Ser)" "" "0000895532" "00005471" "30" "2061" "0" "2061" "0" "c.2061C>A" "r.(?)" "p.(Leu687=)" "" "0000895533" "00005471" "30" "2066" "14" "2066" "14" "c.2066+14G>A" "r.(=)" "p.(=)" "" "0000895534" "00005471" "30" "2434" "15" "2434" "15" "c.2434+15A>G" "r.(=)" "p.(=)" "" "0000895535" "00005471" "10" "2434" "15" "2434" "54" "c.2434+15_2434+54del" "r.(=)" "p.(=)" "" "0000895536" "00005471" "30" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(Ala874=)" "" "0000895537" "00005471" "50" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" "p.(Lys937Glu)" "" "0000895538" "00005471" "30" "2865" "0" "2865" "0" "c.2865C>T" "r.(?)" "p.(Ile955=)" "" "0000909336" "00005471" "90" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Gly296Glu)" "10" "0000909340" "00005471" "90" "1056" "2" "1056" "2" "c.1056+2T>C" "r.spl?" "p.?" "" "0000909543" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000909544" "00005471" "90" "1056" "3" "1056" "3" "c.1056+3A>C" "r.spl?" "p.?" "" "0000915468" "00005471" "30" "227" "15" "227" "15" "c.227+15C>T" "r.(=)" "p.(=)" "" "0000917090" "00005471" "70" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Glu336Gly)" "" "0000917118" "00005471" "70" "989" "0" "1002" "56" "c.989_1002+56del" "r.spl" "p.?" "" "0000917148" "00005471" "70" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000917160" "00005471" "50" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Val243Met)" "" "0000917169" "00005471" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000920112" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "10" "0000920555" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "14i" "0000927101" "00005471" "90" "914" "0" "914" "0" "c.914G>T" "r.(?)" "p.(Gly305Val)" "" "0000931231" "00005471" "30" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Thr823=)" "" "0000936095" "00005471" "70" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Glu336Gly)" "" "0000936123" "00005471" "70" "989" "0" "1002" "56" "c.989_1002+56del" "r.spl" "p.?" "" "0000936153" "00005471" "70" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000936165" "00005471" "50" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Val243Met)" "" "0000936174" "00005471" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000945946" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000945947" "00005471" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "" "0000945948" "00005471" "50" "505" "0" "505" "0" "c.505T>G" "r.(?)" "p.(Cys169Gly)" "" "0000945949" "00005471" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Gly553Arg)" "" "0000945950" "00005471" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Gly553Arg)" "" "0000945951" "00005471" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Gly553Arg)" "" "0000945952" "00005471" "90" "1398" "2" "1398" "2" "c.1398+2T>C" "r.spl" "p.?" "" "0000945953" "00005471" "50" "1002" "0" "1002" "0" "c.1002G>A" "r.spl?" "p.(?,Lys334=)" "" "0000945963" "00005471" "90" "2435" "-2" "2435" "-2" "c.2435-2A>G" "r.spl" "p.?" "" "0000945985" "00005471" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000945986" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000946047" "00005471" "50" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Val186Leu)" "" "0000946109" "00005471" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Gly329Arg)" "" "0000946205" "00005471" "50" "98" "-2" "98" "-2" "c.98-2A>G" "r.spl" "p.?" "" "0000951522" "00005471" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(=)" "" "0000954899" "00005471" "70" "717" "4" "717" "4" "c.717+4A>G" "r.spl" "p.?" "" "0000954900" "00005471" "90" "817" "0" "817" "0" "c.817A>T" "r.(?)" "p.(Lys273Ter)" "9" "0000954934" "00005471" "70" "228" "-1" "428" "1" "c.(227+1_228-1)_(428+1_429-1)del" "r.(228_428del)" "p.?" "2i_3i" "0000954935" "00005471" "70" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Gly263Asp)" "8" "0000954936" "00005471" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "9" "0000954937" "00005471" "70" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "9" "0000954938" "00005471" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "9" "0000954939" "00005471" "90" "930" "189" "930" "189" "c.930+189C>T" "r.(930_931ins930+116_930+187)" "p.(Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK)" "" "0000954940" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" "0000954942" "00005471" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Glu672Lys)" "31" "0000954943" "00005471" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Gly500Arg)" "22" "0000970334" "00005471" "30" "2553" "0" "2553" "0" "c.2553C>T" "r.(?)" "p.(=)" "" "0000984037" "00005471" "50" "350" "0" "350" "0" "c.350T>C" "r.(?)" "p.(Val117Ala)" "" "0000984038" "00005471" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000984039" "00005471" "30" "1777" "-3" "1777" "-3" "c.1777-3C>T" "r.spl?" "p.?" "" "0000984040" "00005471" "50" "2437" "0" "2437" "0" "c.2437A>G" "r.(?)" "p.(Lys813Glu)" "" "0000989633" "00005471" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0001005815" "00005471" "50" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ala14Val)" "" "0001005816" "00005471" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110His)" "" "0001005817" "00005471" "50" "631" "0" "631" "0" "c.631C>G" "r.(?)" "p.(Arg211Gly)" "" "0001005818" "00005471" "30" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0001005819" "00005471" "30" "1395" "0" "1395" "0" "c.1395C>A" "r.(?)" "p.(Asp465Glu)" "" "0001005820" "00005471" "50" "1708" "0" "1708" "0" "c.1708G>T" "r.(?)" "p.(Ala570Ser)" "" "0001005821" "00005471" "30" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Val638Ile)" "" "0001005822" "00005471" "50" "1945" "0" "1945" "0" "c.1945G>A" "r.(?)" "p.(Glu649Lys)" "" "0001005823" "00005471" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Met)" "" "0001005824" "00005471" "30" "2434" "17" "2434" "17" "c.2434+17C>T" "r.(=)" "p.(=)" "" "0001005825" "00005471" "50" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872Trp)" "" "0001005826" "00005471" "30" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "" "0001005827" "00005471" "50" "2872" "0" "2872" "0" "c.2872G>C" "r.(?)" "p.(Ala958Pro)" "" "0001007051" "00005471" "70" "56" "0" "69" "0" "c.56_69dup" "r.(?)" "p.(Glu24Argfs*32)" "1" "0001008333" "00005471" "50" "387" "0" "393" "0" "c.387_393delinsT" "r.(?)" "p.(Asp130_Cys131del)" "" "0001015904" "00005471" "50" "2572" "0" "2572" "0" "c.2572C>T" "r.(?)" "p.(Arg858Cys)" "" "0001022097" "00005471" "90" "904" "-10" "904" "-10" "c.904-10G>A" "r.[904_930del,=]" "p.[Glu302_Gly310del,=]" "10i" "0001027348" "00005471" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "" "0001027349" "00005471" "50" "588" "7" "588" "7" "c.588+7A>G" "r.(=)" "p.(=)" "" "0001027350" "00005471" "50" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Pro827Leu)" "" "0001043648" "00005471" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "" "0001043649" "00005471" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Glu268Gly)" "" "0001043650" "00005471" "30" "1399" "-14" "1399" "-14" "c.1399-14C>G" "r.(=)" "p.(=)" "" "0001043651" "00005471" "50" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Asp558Asn)" "" "0001043652" "00005471" "30" "1776" "256" "1776" "257" "c.1776+256_1776+257del" "r.(=)" "p.(=)" "" "0001043653" "00005471" "30" "1814" "-105" "1814" "-105" "c.1814-105A>G" "r.(=)" "p.(=)" "" "0001043654" "00005471" "30" "1814" "-91" "1814" "-91" "c.1814-91G>A" "r.(=)" "p.(=)" "" "0001043655" "00005471" "50" "2387" "0" "2387" "0" "c.2387T>C" "r.(?)" "p.(Leu796Pro)" "" "0001043656" "00005471" "50" "2450" "0" "2464" "1" "c.2450_2464+1del" "r.spl?" "p.?" "" "0001043657" "00005471" "50" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Leu941Phe)" "" "0001046797" "00005471" "30" "1336" "-17" "1336" "-17" "c.1336-17G>A" "r.(=)" "p.(=)" "" "0001046798" "00005471" "30" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "" "0001047008" "00005471" "70" "1611" "1" "1611" "1" "c.1611+1G>A" "r.spl" "p.?" "" "0001047900" "00005471" "90" "904" "-2" "904" "-2" "c.904-2A>G" "r.spl" "p.(Gly302_Lys310del)" "10i" "0001047901" "00005471" "90" "1465" "0" "1465" "0" "c.1465del" "r.(?)" "p.(Ala489ProfsTer16)" "22" "0001047902" "00005471" "90" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Gly526Arg)" "24" "0001047903" "00005471" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Gly299Glu)" "10" "0001047904" "00005471" "90" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Gly284Glu)" "9" "0001047905" "00005471" "90" "1003" "-1" "1003" "-1" "c.1003-1G>A" "r.spl" "p.?" "13i" "0001047906" "00005471" "90" "1056" "1" "1056" "1" "c.1056+1G>C" "r.spl" "p.?" "14i" "0001047907" "00005471" "90" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Gly290Arg)" "10" "0001047908" "00005471" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "14" "0001049038" "00005471" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 883 "{{screeningid}}" "{{variantid}}" "0000035453" "0000062572" "0000035454" "0000062573" "0000035455" "0000062574" "0000035456" "0000062575" "0000035457" "0000062576" "0000035458" "0000062577" "0000035459" "0000062578" "0000035460" "0000062579" "0000035461" "0000062580" "0000035462" "0000062581" "0000035463" "0000062582" "0000035464" "0000062583" "0000035465" "0000062584" "0000035466" "0000062585" "0000035467" "0000062586" "0000035468" "0000062587" "0000035469" "0000062588" "0000035470" "0000062589" "0000035471" "0000062590" "0000035472" "0000062591" "0000035473" "0000062592" "0000035474" "0000062593" "0000035475" "0000062594" "0000035476" "0000062595" "0000035477" "0000062596" "0000035478" "0000062597" "0000035479" "0000062598" "0000035480" "0000062599" "0000035481" "0000062600" "0000035482" "0000062601" "0000035483" "0000062602" "0000035484" "0000062603" "0000035485" "0000062604" "0000035486" "0000062605" "0000035487" "0000062606" "0000054645" "0000084595" "0000054646" "0000084596" "0000054650" "0000084600" "0000054653" "0000084603" "0000054654" "0000084604" "0000054656" "0000084606" "0000054657" "0000084607" "0000054658" "0000084608" "0000109176" "0000175265" "0000109176" "0000175274" "0000109182" "0000175266" "0000109188" "0000175267" "0000109191" "0000175268" "0000109197" "0000175269" "0000109198" "0000175270" "0000109202" "0000175271" "0000109204" "0000175272" "0000109205" "0000175273" "0000109211" "0000175315" "0000109212" "0000175316" "0000109213" "0000175317" "0000109214" "0000175318" "0000109215" "0000175319" "0000109216" "0000175320" "0000109217" "0000175321" "0000109218" "0000175322" "0000109219" "0000175323" "0000109220" "0000175324" "0000109220" "0000175992" "0000109221" "0000175325" "0000109222" "0000175326" "0000109223" "0000175994" "0000109224" "0000175328" "0000109225" "0000175329" "0000109226" "0000175330" "0000109227" "0000175331" "0000109228" "0000175332" "0000109229" "0000175333" "0000109230" "0000175334" "0000109231" "0000175335" "0000109232" "0000175336" "0000109233" "0000175337" "0000109234" "0000175338" "0000109235" "0000175339" "0000109236" "0000175340" "0000109237" "0000175341" "0000109238" "0000175342" "0000109238" "0000176004" "0000109238" "0000176005" "0000109239" "0000176020" "0000109239" "0000176021" "0000109239" "0000176022" "0000109240" "0000175344" "0000109241" "0000175345" "0000109241" "0000176028" "0000109242" "0000175346" "0000109243" "0000175347" "0000109244" "0000175348" "0000109245" "0000175349" "0000109251" "0000175355" "0000109261" "0000175365" "0000109272" "0000175376" "0000109289" "0000175393" "0000109289" "0000176055" "0000109290" "0000175394" "0000109290" "0000176082" "0000109290" "0000176083" "0000109291" "0000175395" "0000109292" "0000175396" "0000109292" "0000176152" "0000109292" "0000176153" "0000109292" "0000176154" "0000109292" "0000176155" "0000109293" "0000175397" "0000109294" "0000175398" "0000109294" "0000176208" "0000109294" "0000176209" "0000109294" "0000176210" "0000109294" "0000176211" "0000109294" "0000176212" "0000109295" "0000175399" "0000109295" "0000176237" "0000109296" "0000175400" "0000109296" "0000176262" "0000109296" "0000176263" "0000109297" "0000175401" "0000109298" "0000175402" "0000109299" "0000175403" "0000109300" "0000175404" "0000109301" "0000175405" "0000109302" "0000175406" "0000109303" "0000175407" "0000109304" "0000175408" "0000109305" "0000175409" "0000109310" "0000175414" "0000109311" "0000175415" "0000109312" "0000175416" "0000109313" "0000175417" "0000109315" "0000175419" "0000109319" "0000175423" "0000109320" "0000175424" "0000109320" "0000176293" "0000109321" "0000175425" "0000109324" "0000175428" "0000109326" "0000175430" "0000109327" "0000175431" "0000109331" "0000175435" "0000109332" "0000175436" "0000109333" "0000175437" "0000109336" "0000175440" "0000109337" "0000175441" "0000109338" "0000175442" "0000109339" "0000175443" "0000109339" "0000176297" "0000109340" "0000175444" "0000109344" "0000175448" "0000109345" "0000175449" "0000109347" "0000175451" "0000109350" "0000175454" "0000109351" "0000175455" "0000109351" "0000176304" "0000109354" "0000175458" "0000109355" "0000175459" "0000109359" "0000175463" "0000109364" "0000175468" "0000109365" "0000175469" "0000109369" "0000175473" "0000109372" "0000175476" "0000109373" "0000175477" "0000109375" "0000175479" "0000109376" "0000175480" "0000109377" "0000175481" "0000109378" "0000175482" "0000109379" "0000175483" "0000109380" "0000175484" "0000109381" "0000175485" "0000109382" "0000175486" "0000109383" "0000175487" "0000109384" "0000175488" "0000109385" "0000175489" "0000109386" "0000175490" "0000109387" "0000175491" "0000109388" "0000175492" "0000109389" "0000175493" "0000109390" "0000175494" "0000109391" "0000175495" "0000109392" "0000175496" "0000109393" "0000175497" "0000109394" "0000175498" "0000109395" "0000175499" "0000109396" "0000175500" "0000109397" "0000175501" 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