### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACTA1)
# 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}}"
"ACTA1" "actin, alpha 1, skeletal muscle" "1" "q42.13" "unknown" "NG_006672.1" "UD_130875434054" "" "http://www.DMD.nl/ACTA1" "Western Australian Institute for Medical Research (WAIMR) " "1" "129" "58" "102610" "1" "1" "1" "1" "This is the Laing lab ACTA1 mutation database originally initiated at the Western Australian Institute for Medical Research (WAIMR). For conveniance it has been combined with other muscle-related gene variant databases from the:
" "For conveniance it has been combined with other muscle-related gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "g" "https://databases.lovd.nl/shared/refseq/ACTA1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2007-09-25 00:00:00" "00006" "2017-06-30 14:46:02" "00000" "2025-05-05 21:14:00"
## 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}}"
"00002013" "ACTA1" "actin, alpha 1, skeletal muscle" "001" "NM_001100.3" "" "NP_001091.1" "" "" "" "-105" "1388" "1134" "229569843" "229566992" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31"
"00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25"
"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"
"01462" "CMYO2A;NEM3" "myopathy, congenital, type 2A, typical" "AD" "161800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-05 18:57:10"
"01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08"
"01959" "CMYO4A;CFTD" "myopathy, congenital, type 4A" "AD" "255310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:49:08"
"04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" ""
"05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" ""
"06005" "SHPM" "myopathy, scapulohumeroperoneal" "AD" "616852" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-09-05 19:00:31"
"07099" "CMYO2B" "myopathy, congenital, type 2B, severe infantile" "AR" "620265" "" "" "" "00006" "2024-09-05 18:58:31" "" ""
"07100" "CMYO2C" "myopathy, congenital, type 2C, severe infantile" "AD" "620278" "" "" "" "00006" "2024-09-05 18:59:46" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"ACTA1" "01462"
"ACTA1" "06005"
"ACTA1" "07099"
"ACTA1" "07100"
## Individuals ## Do not remove or alter this header ##
## Count = 423
"{{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}}"
"00034641" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034642" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034643" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034644" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034645" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034646" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034647" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034648" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034649" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034650" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034651" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00054689" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "" "M" "" "Australia" ">03y" "0" "" "" "" "Pat113"
"00106167" "" "" "" "11" "" "00491" "{PMID:Kaindl et al, 2004:15520409}, {OMIM102610:0009}" "11 affected members in 4 generations from 8 separate sibship" "" "" "Germany" "" "0" "" "" "" ""
"00106168" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106169" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106170" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106171" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106172" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106173" "" "" "" "1" "" "00491" "{PMID:Goebel et al, 1997:9185179}; H. Goebel, Germany; J. Anderson (England)" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106174" "" "" "" "1" "" "00491" "{PMID:Goebel et al, 2006:16948949}, {PMID:Goebel et al, 2004:15072110}" "" "" "" "" "" "0" "" "" "" ""
"00106175" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106176" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106177" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106178" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106179" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Netherlands)" "" "0" "" "" "" ""
"00106180" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106181" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106182" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106183" "" "" "" "1" "" "00483" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106184" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106185" "" "" "" "1" "" "00491" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Graziano et al, 2004:15138616}" "monozygotic twins" "" "" "(Italy)" "" "0" "" "" "" ""
"00106186" "" "" "" "2" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "parents not tested" "" "" "(United States)" "" "0" "" "" "" ""
"00106187" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106188" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Denmark)" "" "0" "" "" "" ""
"00106189" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106190" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106191" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106192" "" "" "" "2" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106193" "" "" "" "1" "" "00491" "{PMID:Ilkovski et al, 2004:15198992}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106194" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106195" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106196" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2005:15952992}" "monozygous twins" "" "" "(Italy)" "" "0" "" "" "" ""
"00106197" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106198" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106199" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106200" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "(Italy)" "" "0" "" "" "" ""
"00106201" "" "" "" "2" "" "00483" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106202" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106203" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0001}" "sib1 from unaffected father and mother" "" "" "(United States)" "" "0" "" "" "" ""
"00106204" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106205" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106206" "" "" "" "1" "" "00491" "{PMID:Ilkovski et al, 2004:15198992}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106207" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106208" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106209" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "affected mother, sister and daugther" "" "" "(Australia)" "" "0" "" "" "" ""
"00106210" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106211" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "" "" "0" "" "" "" ""
"00106212" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(South Africa)" "00y00m01d" "0" "" "" "" ""
"00106213" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106214" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106215" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Junglbuth et al, 2001:11166164}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106216" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Spain)" "" "0" "" "" "" ""
"00106217" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106218" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "variant dominant, incompletely penetrant in mother and grandfather of proband" "" "" "(United States)" "" "0" "" "" "" ""
"00106219" "" "" "" "1" "" "00491" "{PMID:Schnell et al, 2000:10838259}, {PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0008}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106220" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106221" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106222" "" "" "" "1" "" "00491" "{PMID:Koy et al, 2007:18461503}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106223" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106224" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106225" "" "" "" "2" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "affected mother and son" "" "" "(France)" "" "0" "" "" "" ""
"00106226" "" "" "" "1" "" "00491" "{PMID:Bornemann et al, 1996:8811133}; H. Schmalbruch, Denmark" "" "" "" "(Denmark)" "" "0" "" "" "" ""
"00106227" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106228" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106229" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106230" "" "" "" "2" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "mother and daughter affected" "" "" "(France)" "" "0" "" "" "" ""
"00106231" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106232" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Schroder et al, 2004:15221331}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106233" "" "" "" "1" "" "00483" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106234" "" "" "" "1" "" "00491" "{PMID:Goebel et al, 1997:9185179}; H. Goebel, Germany; C. Hubner, Germany" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106235" "" "" "" "1" "" "00491" "{PMID:Goebel et al, 1997:9185179}; H. Goebel, Germany" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106236" "" "" "" "1" "" "00491" "{PMID:Weeks et al,2003:12775505}, {PMID:Kaimaktchiev et al, 2006:16477620}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106237" "" "" "" "4" "" "00491" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}, {PMID:Hutchinson et al, 2006:16427282}, {OMIM102610:0014}" "" "" "" "(New Zealand)" "" "0" "" "" "" ""
"00106238" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106239" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106240" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106241" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106242" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106243" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106244" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106245" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106246" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106247" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106248" "" "" "" "1" "" "00483" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106249" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106250" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106251" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106252" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106253" "" "" "" "1" "" "00483" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106254" "" "" "" "2" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "somatic mosaicm in father" "" "" "(France)" "" "0" "" "" "" ""
"00106255" "" "" "" "1" "" "00491" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106256" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106257" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106258" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106259" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106260" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Canada)" "" "0" "" "" "" ""
"00106261" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106262" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106263" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106264" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106265" "" "" "" "1" "" "00483" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106266" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Netherlands)" "" "0" "" "" "" ""
"00106267" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106268" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(New Zealand)" "" "0" "" "" "" ""
"00106269" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106270" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "father of proband carries variant and shows histopathological changes in muscle biopsy, although clinically unaffected" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106271" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "(Italy)" "" "0" "" "" "" ""
"00106272" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0012}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106273" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106274" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106275" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106276" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106277" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106278" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106279" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106280" "" "" "" "2" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106281" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106282" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Canada)" "" "0" "" "" "" ""
"00106283" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106284" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106285" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "Patient of Carina Wallgren-Pettersson, Helsinki" "" "" "" "" "0" "" "" "" ""
"00106286" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106287" "" "" "" "5" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106288" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106289" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106290" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106291" "" "" "" "1" "" "00483" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106292" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Buxmann et al, 2001:11748499}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106293" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106294" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106295" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "(Italy)" "" "0" "" "" "" ""
"00106296" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106297" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106298" "" "" "" "1" "" "00491" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0007}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106299" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106300" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106301" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106302" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106303" "" "" "" "1" "" "00491" "{PMID:Ohlsson et al, 2004:15336687}" "" "" "" "(Sweden)" "" "0" "" "" "" ""
"00106304" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106305" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106306" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(New Zealand)" "" "0" "" "" "" ""
"00106307" "" "" "" "1" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106308" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106309" "" "" "" "1" "" "00483" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106310" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106311" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106312" "" "" "" "1" "" "00483" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106313" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106314" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0011}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106315" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0013}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106316" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106317" "" "" "" "5" "" "00491" "{PMID:Kaindl et al, 2004:15520409}, {OMIM102610:0010}" "3-generation family, 5 affecteds" "" "" "Switzerland" "" "0" "" "" "" ""
"00106318" "" "" "" "1" "" "00491" "{PMID:D\'Amico et al, 2006:16945537}" "" "" "" "(Italy)" "" "0" "" "" "" ""
"00106319" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Canada)" "" "0" "" "" "" ""
"00106320" "" "" "" "1" "" "00483" "{PMID:Agrawal et al, 2004:15236405}" "This patient was mildly affected and inherited the mutation from his apparently unaffected father. One might have expected the mutation, which should add more than 40 amino-acids to the size of skeletal muscle actin and scramble the last 34 amino acids of normal actin might result in a severe phenotype, but apparently it does not" "" "" "(United States)" "" "0" "" "" "" ""
"00106321" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Israel)" "" "0" "" "" "" ""
"00106322" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(France)" "" "0" "" "" "" ""
"00106323" "" "" "" "1" "" "00491" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}, {OMIM102610:0006}" "" "" "" "(Australia)" "" "0" "" "" "" ""
"00106324" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "(Spain)" "" "0" "" "" "" ""
"00106325" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106326" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Kuwait)" "" "0" "" "" "" ""
"00106327" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106328" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "somatic mosaicism in mother" "" "" "(Norway)" "" "0" "" "" "" ""
"00106329" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106330" "" "" "" "1" "" "00491" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Graziano et al, 2004:15138616}" "" "" "" "(Italy)" "" "0" "" "" "" ""
"00106331" "" "" "" "2" "" "00483" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106332" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Finland)" "" "0" "" "" "" ""
"00106333" "" "" "" "1" "" "00491" "{PMID:Ohlsson et al, 2004:15336687}" "" "" "" "(Sweden)" "" "0" "" "" "" ""
"00106334" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106335" "" "" "" "1" "" "00491" "{PMID:Bouldin et al, 2006:16967490}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106336" "" "" "" "1" "" "00491" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "(Japan)" "" "0" "" "" "" ""
"00106337" "" "" "" "1" "" "00491" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "(Spain)" "" "0" "" "" "" ""
"00106338" "" "" "" "1" "" "00491" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00106339" "" "" "" "1" "" "00491" "{PMID:Mayosi et al, 1999:10528865}" "" "" "" "" "" "0" "" "" "" ""
"00106340" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106341" "" "" "" "1" "" "00491" "{PMID:Mayosi et al, 1999:10528865}" "" "" "" "" "" "0" "" "" "" ""
"00106342" "" "" "" "1" "" "00491" "" "" "" "" "" "" "0" "" "" "" ""
"00106343" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106344" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106345" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106346" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106347" "" "" "" "1" "" "00491" "" "" "" "" "" "" "0" "" "" "" ""
"00106348" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106349" "" "" "" "1" "" "00491" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "" "" "0" "" "" "" ""
"00106350" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106351" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(Netherlands)" "" "0" "" "" "" ""
"00106352" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "(Belgium)" "" "0" "" "" "" ""
"00106353" "" "" "" "1" "" "00483" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106354" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106355" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "Mild nemaline myopathy, patient from Wales via Finland" "M" "" "(Finland)" "" "0" "" "" "" ""
"00106356" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106357" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106358" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106359" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106360" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106361" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106362" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106363" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106364" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106365" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106366" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106367" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106368" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106369" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106370" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106371" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106372" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106373" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106374" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106375" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106376" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106377" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106378" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106379" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106380" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106381" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}{PMID:Levesque et al 2013:23305948}" "" "" "" "United States" "" "0" "" "" "" ""
"00106382" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106383" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106384" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106385" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106386" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106387" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106388" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106389" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106390" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106391" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106392" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106393" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106394" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106395" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106396" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106397" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106398" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106399" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106400" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106401" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106402" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106403" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106404" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106405" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106406" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106407" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106408" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106409" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106410" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106411" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106412" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106413" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106414" "" "" "" "1" "" "00491" "{PMID:Arai et al, 2009:19553121} {PMID:Laing et al, 2009:19562689}" "" "M" "" "" "" "0" "" "" "" ""
"00106415" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106416" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106417" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106418" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106419" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106420" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106421" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106422" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106423" "" "" "" "1" "" "00464" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106424" "" "" "" "3" "" "00464" "{PMID:Laing et al, 2009:19562689}" "found in 2 similary affected family members" "M" "" "" "" "0" "" "" "" ""
"00106425" "" "" "" "1" "" "00464" "{PMID:Laing et al, 2009:19562689}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106426" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "muscle biopsy type 1 fibre predominance is only pathological feature" "" "" "" "" "0" "" "" "" ""
"00106427" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106428" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "" "" "" "" "0" "" "" "" ""
"00106429" "" "" "" "1" "" "00491" "{PMID:Garcia-Angarita, et al 2009:19553116}" "" "" "" "" "" "0" "" "" "" ""
"00106430" "" "" "" "1" "" "00491" "unpublished" "" "" "" "" "" "0" "" "" "" ""
"00106431" "" "" "" "1" "" "00491" "{PMID:Ravenscroft et al:20850316}" "Died 6 months of age, intranuclear rod myopathy, small Type 2 fibres" "F" "" "(South Africa)" "00y06m" "0" "" "" "" ""
"00106432" "" "" "" "1" "" "00464" "unpublished" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106433" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106434" "" "" "" "1" "" "00464" "" "" "" "" "" "" "0" "" "" "" ""
"00106435" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0001}" "sib2 from unaffected father and mother" "" "" "(United States)" "" "0" "" "" "" ""
"00106436" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "affected daugther" "" "" "(Australia)" "" "0" "" "" "" ""
"00106437" "" "" "" "1" "" "00491" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "affected sister" "" "" "(Australia)" "" "0" "" "" "" ""
"00106438" "" "" "" "1" "" "00006" "{PMID:Hung 2010:20303757}" "father Trinidad, mother United Kingdom (Scotland)" "M" "" "Canada" "" "0" "" "" "" ""
"00106439" "" "" "" "1" "" "00464" "" "severe, congenital form" "" "" "(United States)" "" "0" "" "" "" ""
"00106440" "" "" "" "1" "" "00491" "" "severe nemaline myopathy phenotype" "M" "" "Australia" "" "0" "" "" "" ""
"00106441" "" "" "" "1" "" "01951" "" "" "" "" "United States" "" "0" "" "" "" ""
"00106442" "" "" "" "1" "" "01951" "" "" "" "" "United States" "" "0" "" "" "" ""
"00106443" "" "" "" "1" "" "00491" "{PMID:Kim et al 2011:21570694}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" ""
"00106444" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" ""
"00106445" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106446" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" ""
"00106447" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" ""
"00106448" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" ""
"00106449" "" "" "" "1" "" "00491" "{PMID: Stenzel et al 2010:20621480}" "" "F" "" "" "" "0" "" "" "" ""
"00106450" "" "" "" "1" "" "00464" "" "" "F" "" "Canada" "" "0" "" "" "" ""
"00106451" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "Hispanic" ""
"00106452" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" ""
"00106453" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "white" ""
"00106454" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106455" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106456" "" "" "" "1" "" "00464" "" "" "" "" "Sweden" "" "0" "" "" "" ""
"00106457" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106458" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" ""
"00106459" "" "" "" "1" "" "00490" "" "sporadic patient, 2 years old, de novo mutation" "F" "no" "Germany" "" "0" "" "" "" ""
"00106460" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "African American" ""
"00106461" "" "" "" "1" "" "00526" "" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "British Asian" ""
"00106462" "" "" "" "1" "" "00526" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "White British" ""
"00106463" "" "" "" "1" "" "00526" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "White British" ""
"00106464" "" "" "" "1" "" "00526" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "White British" ""
"00106465" "" "" "" "1" "" "00526" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "White British" ""
"00106466" "" "" "" "1" "" "00526" "" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "British Asian" ""
"00106467" "" "" "" "1" "" "00526" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106468" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106469" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106470" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106471" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106472" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106473" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106474" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106475" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106476" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106477" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106478" "" "" "" "1" "" "00430" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00106479" "" "" "" "1" "" "00490" "" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00106480" "" "" "" "1" "" "00526" "" "" "M" "?" "" "" "0" "" "" "" ""
"00106481" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "African American" ""
"00106482" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" ""
"00106483" "" "" "" "1" "" "00540" "" "family, affected boy" "M" "no" "Germany" "" "0" "" "" "white" ""
"00106484" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106485" "" "" "" "2" "" "01973" "{PMID:O\'Grady 2015:25182138}, {PMID:O\'Grady 2016:27159402}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives\r\nheterozygous carriers" "M" "" "Sri Lanka" "" "0" "" "" "" "FamPats/Pat32"
"00106486" "" "" "" "1" "" "00491" "" "" "F" "" "(Australia)" "" "0" "" "" "" ""
"00106487" "" "" "" "1" "" "00491" "" "" "M" "" "(Australia)" "" "0" "" "" "" ""
"00106488" "" "" "" "1" "" "00491" "{PMID:Gatayama 2013:23650303}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00106489" "" "" "" "1" "" "00491" "" "" "F" "" "Australia" "" "0" "" "" "" ""
"00106490" "" "" "" "1" "" "00491" "" "" "F" "" "Australia" "" "0" "" "" "" ""
"00106491" "" "" "" "1" "" "00491" "" "patient from NSW Australia" "F" "" "Australia" "" "0" "" "" "" ""
"00106492" "" "" "" "1" "" "00491" "{PMID: Kajino 2014: 24642510}" "" "" "" "Japan" "" "0" "" "" "" ""
"00106493" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00106494" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" ""
"00106495" "" "" "" "1" "" "00491" "" "" "F" "?" "Australia" "" "0" "" "" "" ""
"00106496" "" "" "" "2" "" "00491" "" "Published by Guglieri M et al., as an abstract of World Muscle Society Annual Congress, Berlin, 2014: Neuromuscular Disorders 24: 832 2014" "M" "?" "Iran" "" "0" "" "" "Kurdish" ""
"00106497" "" "" "" "1" "" "00491" "{PMID:Sparrow et al, 2003:12921789}" "Published as an abstract of the World Muscle Society Annual Congress in Berlin 2014 - Neuromuscular Disorders 24:793 (2014)" "M" "?" "" "" "0" "" "" "" ""
"00106498" "" "" "" "1" "" "00491" "{PMID: Miyatake et al 2014:24852243}" "" "M" "-" "Japan" "" "0" "" "" "" ""
"00106499" "" "" "" "1" "" "00491" "{PMID: Friedman et al 2014:24447884}" "" "F" "no" "(United States)" "" "0" "" "" "" ""
"00106500" "" "" "" "1" "" "00491" "{PMID:Castiglioni et al 2014:25088345}" "" "M" "" "(Chile)" "" "0" "" "" "" ""
"00106501" "" "" "" "1" "" "00491" "{PMID:Laing et al, 2009:19562689}" "" "M" "" "Australia" "" "0" "" "" "" ""
"00106502" "" "" "" "1" "" "00491" "" "Hayashi et al, Mutation screening of a large cohort of nemaline myopathy. Neuromuscular Disorders 23: 784 (2013)" "" "" "" "" "0" "" "" "" ""
"00106503" "" "" "" "1" "" "00491" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106504" "" "" "" "1" "" "00491" "{PMID:Chou et al 2013:23102861}" "" "F" "" "Japan" "" "0" "" "" "" ""
"00106505" "" "" "" "1" "" "00491" "" "Patient and mutation described in series of emails from Volker Straub, Newcastle-upon-Tyne, UK." "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106506" "" "" "" "1" "" "00491" "" "Email from John Alexander & Madhuri Hegde at Emory 7th July 2015" "" "?" "" "" "0" "" "" "" ""
"00106507" "" "" "" "1" "" "00491" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106508" "" "" "" "1" "" "00491" "" "mild, long-standing history of mild congenital myopathy-like condition. Rods by both LM and EM, fibre type disproportion. Mother aged in 80s also has variant. Mother said to be \"very strong\"." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106509" "" "" "" "1" "" "00491" "" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106510" "" "" "" "1" "" "00491" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106511" "" "" "" "1" "" "00491" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00106528" "" "" "" "1" "" "00491" "" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106529" "" "" "" "1" "" "00491" "{PMID:Yang et al:27357517}" "11 year old girl, mild nemaline myopathy, could walk freely, could not jump" "F" "no" "China" "" "0" "" "" "" ""
"00106530" "" "" "" "1" "" "00491" "{PMID:Kawase et al:24787270}" "Hypoxic, ischaemic encephalopathy, intranuclear rod myopathy, generalised hypotonia" "M" "?" "Japan" "" "0" "" "" "" ""
"00106532" "" "" "" "1" "" "00491" "" "Severe congenital myopathy, hypotonia, areflexia, diaphragmatic breathing. Patient from Helen Young, Westmead Hospital, NSW" "M" "?" "(Australia)" "" "0" "" "" "" ""
"00106533" "" "" "" "1" "" "00491" "" "Neonatal death from congenital myopathy: congenital fibre type disproportion. Patient from Dr David Amor, Royal Children\'s Hospital, Melbourne, Australia" "M" "" "Australia" "" "0" "" "" "" ""
"00106534" "" "" "" "1" "" "00491" "" "Patient from Dr L Jardine, Mater Mother\'s Hospital, Brisbane, Queensland\r\nAntenatal diagnosis of foetal akinesia sequence. Post delivery extremely hypotonic. Very limited movement. Ventilator dependent. No suck or gag. Macrocephaly with frontal bossing. Cryptoorchidism. Contractures of fingers, upper and lower limbs. No palmar creases." "M" "?" "Australia" "" "0" "" "" "" ""
"00106655" "" "" "" "1" "" "00491" "{PMID:Ladha et al 2008:18487519}" "Nemaline myopathy" "M" "" "United States" "" "0" "" "" "" ""
"00106658" "" "" "" "2" "" "00491" "{PMID:Sewry 2015:25747004}" "3-generation family, affected man/daughter, unaffected parents (not available for testing)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "25747004-Pat"
"00106680" "" "" "" "1" "" "00491" "" "Patient of Anna Sarkozy, London. Patient described as having nemaline myopathy" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106681" "" "" "" "1" "" "00491" "" "Patient of Anna Sarkozy, London. Patient described as having congenital myopathy with no nemaline rods seen" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106682" "" "" "" "1" "" "00491" "" "Patient of Anna Sarkozy, London. Diagnosis of nemaline myopathy. Variant inherited from unaffected parent, therefore pathogenicity uncertain." "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00106683" "" "" "" "1" "" "00491" "{PMID:Donkervoort et al, 2017:28416349}" "Patient one of three described in the paper with severe lack of movement and cytoplasmic bodies on muscle biopsy. The other two patients are fraternal twins. All have the same (p.Asn94Lys) variant" "M" "?" "(United States)" "" "0" "" "" "" ""
"00106684" "" "" "" "1" "" "00491" "{PMID:Donkervoort et al, 2017:28416349}" "Fraternal twins with profound lack of movement and cytoplasmic bodies, not nemaline bodies on muscle biopsy" "M" "" "(United States)" "00y06m" "0" "" "" "" ""
"00106685" "" "" "" "1" "" "00491" "{PMID:Chae et al, 2015:25635128}" "Diagnosed with nemaline myopathy. Floppy infant. Myopathic face with high arched palate. CK=130" "F" "?" "Korea" "" "0" "" "" "" "Chae et al 2015 Case 18"
"00106686" "" "" "" "1" "" "00491" "{PMID:Chae et al, 2015:25635128}" "Muscle weakness from birth. Motor developmental delay. CK = 10 Diagnosed with nemaline myopathy" "F" "?" "Korea, South (Republic)" "" "0" "" "" "" "Chae et al, 2015 Case 21"
"00106739" "" "" "" "1" "" "00491" "{PMID:Stehlikova et al, 2017:27447704}" "Patient described as having a congenital myopathy and a de novo mutation in ACTA1" "F" "" "Czech Republic" "" "0" "" "" "" "Stehlikova et al, 2017"
"00106740" "" "" "" "1" "" "00491" "{PMID:Stehlikova et al, 2017:27447704}" "Described as congenital myopathy with de novo ACTA1 mutation" "F" "?" "Czech Republic" "" "0" "" "" "" "Stehlikova et al, 2017 54"
"00106741" "" "" "" "1" "" "00491" "{PMID:Stehlikova et al, 2017:27447704}" "Patient described as having congenital myopathy with nemaline rods and a de novo ACTA1 mutation" "M" "?" "Czech Republic" "" "0" "" "" "" "Stehlikova et al, 2017 56"
"00107542" "" "" "" "1" "" "00491" "" "Patient diagnosed with congenital myopathy. ACTA1 c.529A>G (p.Ile177Val) variant also present in unaffected father with no sign from Sanger sequencing of the variant of mosaicism in the father" "M" "" "Australia" "00y13m" "0" "" "" "" ""
"00108193" "" "" "" "1" "" "02178" "" "" "M" "no" "France" "" "0" "" "" "" "02178"
"00116799" "" "" "" "1" "" "01183" "in preparation: Lehtokari et al., 2017" "3-generation family: affected grandmother, mother and son, variant segregates with disease in all three" "F" "" "Finland" "" "0" "" "" "Finnish" "Vilma Lehtokari email 11.8.17"
"00116802" "" "" "" "1" "" "00491" "{PMID:Ueda 2017:28516742}" "4-day old female, nemaline myopathy by light and electronmicroscopy, died at 35 days of age. De novo ACTA1 c.868G>C; (p.Asp290His) mutation" "F" "?" "(United States)" "00y00m35d" "0" "" "" "" ""
"00143684" "" "" "" "1" "" "00491" "" "" "M" "?" "Australia" "" "0" "" "" "" ""
"00143685" "" "" "" "1" "" "00491" "" "" "F" "?" "Australia" "" "0" "" "" "" ""
"00213106" "" "" "" "1" "" "03159" "" "" "F" "no" "United States" "00y01m" "0" "" "" "" ""
"00225642" "" "" "" "3" "" "02588" "{PMID:Reza 2018:30354303}" "proband, affected brother and paternal half-first cousin, proband\'s father had sudden cardiac death (56y), 4 affected family members, but were not genetically tested" "-" "?" "United States" "" "0" "" "see paper" "" "30354303-proband-fam"
"00227770" "" "" "" "1" "" "00491" "{PMID30195123: Tadokoro et al 2018}" "Patient diagnosed with congenital fibre type disproportion (CFTD), and dilated cardiomyopathy, no nemaline bodies seen, first seen at age 6." "M" "?" "Japan" "" "0" "" "" "" ""
"00288963" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat15"
"00288972" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat26"
"00288990" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat44"
"00295666" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00307209" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-1596"
"00307229" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-0172"
"00314023" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00314024" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00329227" "" "" "" "1" "" "01807" "" "Mother is mosaic for the variant." "F" "" "" "" "0" "" "" "" ""
"00361482" "" "" "" "3" "" "03755" "{PMID:Liewluck 2017:28606400}" "Two generation family, three affected individuals" "M" "-" "(United States)" "" "0" "" "" "" ""
"00361748" "" "" "" "2" "" "03755" "{PMID:Liewluck 2019:30987788}" "2 generation family, 2 affecteds (1M, 1F). myopathy with prominent finger flexor weakness, rimmed vacuoles and nemaline bodies in father" "F" "-" "(United States)" "" "0" "" "" "" "Liewluck 2019 Proband and father"
"00361749" "" "" "" "6" "" "03755" "{PMID:Garibaldi 2021:33384202}" "3 generation family, 6 affecteds (3F, 3M), dominantly inherited. Nemaline bodies, unstructured cores. Proband female" "F" "-" "Italy" "" "0" "" "" "" ""
"00374643" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1452"
"00374644" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5766"
"00383054" "" "" "" "1" "cc_by-nc-sa_4.0;1" "03755" "" "" "M" "?" "(United Kingdom (Great Britain))" "00y01m" "0" "" "" "" ""
"00388142" "" "" "" "1" "" "03755" "{PMID:Yang 2021:34596777}" "" "M" "?" "China" "" "0" "" "" "Chinese" "proband"
"00398959" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "M" "" "Spain" "" "0" "" "" "" "Fam56Pat62"
"00398960" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "M" "" "Spain" "" "0" "" "" "" "Fam57Pat63"
"00399036" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P89"
"00399040" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P97"
"00399074" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P152"
"00401648" "" "" "" "1" "" "04254" "" "" "M" "" "" "00y01m" "0" "" "" "" ""
"00415935" "" "" "" "1" "" "03652" "" "" "M" "no" "Bolivia" "" "" "" "" "" ""
"00419171" "" "" "" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "M" "" "Brazil" "" "0" "" "" "" "Fam1Pat1"
"00419172" "" "" "" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "M" "" "Brazil" "" "0" "" "" "" "Fam2Pat2"
"00419173" "" "" "" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "M" "" "Brazil" "" "0" "" "" "" "Fam3Pat3"
"00419174" "" "" "" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "M" "" "Brazil" "" "0" "" "" "" "Fam4Pat4"
"00419175" "" "" "" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "F" "" "Brazil" "" "0" "" "" "" "Fam5Pat5"
"00428219" "" "" "" "2" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, mother and affected fetus" "F" "" "Germany" "<0d" "0" "" "" "" "Fam1PatII1"
"00428241" "" "" "00428219" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "mother" "F" "" "Germany" "" "0" "" "" "" "Fam1mother"
"00431424" "" "" "" "1" "" "01164" "" "" "?" "?" "" "" "0" "" "" "" "251602"
"00433371" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "253751"
"00435678" "" "" "" "1" "" "00006" "{PMID:Haidong 2023:37525074}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Pat15"
"00437028" "" "" "" "1" "" "00006" "{PMID:Moureau-Le Lan 2018:30517146}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "Spain" "" "0" "" "" "" "Pat5"
"00442629" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat1"
"00442630" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat2"
"00442780" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat152"
"00453468" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "302449"
"00460223" "" "" "" "1" "" "00006" "{PMID:Mao 2025:39815277}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "G051-1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 401
"{{individualid}}" "{{diseaseid}}"
"00054689" "00360"
"00106167" "00244"
"00106168" "01462"
"00106169" "01462"
"00106170" "01462"
"00106171" "01462"
"00106172" "01959"
"00106173" "00244"
"00106174" "00244"
"00106175" "01462"
"00106176" "01462"
"00106177" "01462"
"00106178" "01462"
"00106179" "01462"
"00106180" "01462"
"00106181" "01462"
"00106182" "01462"
"00106183" "01462"
"00106184" "01462"
"00106185" "01462"
"00106186" "01462"
"00106187" "01462"
"00106188" "01462"
"00106189" "01462"
"00106190" "01959"
"00106191" "01462"
"00106192" "01462"
"00106193" "01462"
"00106194" "01462"
"00106195" "01462"
"00106196" "01462"
"00106197" "01462"
"00106198" "01462"
"00106199" "01462"
"00106200" "00198"
"00106201" "01462"
"00106202" "01462"
"00106203" "01462"
"00106204" "01462"
"00106205" "00198"
"00106206" "01462"
"00106207" "01462"
"00106208" "04164"
"00106209" "01462"
"00106210" "01462"
"00106211" "01462"
"00106212" "01462"
"00106213" "01462"
"00106214" "01462"
"00106215" "01462"
"00106216" "01462"
"00106217" "01462"
"00106218" "01462"
"00106219" "01462"
"00106220" "00198"
"00106221" "01462"
"00106222" "00244"
"00106223" "01462"
"00106224" "00198"
"00106225" "01462"
"00106226" "00244"
"00106227" "00244"
"00106228" "00244"
"00106229" "00244"
"00106230" "01462"
"00106231" "00244"
"00106232" "01462"
"00106233" "00244"
"00106234" "00244"
"00106235" "00244"
"00106236" "00244"
"00106237" "01462"
"00106238" "00198"
"00106239" "01462"
"00106240" "01462"
"00106241" "01462"
"00106242" "01462"
"00106243" "01462"
"00106244" "01462"
"00106245" "00198"
"00106246" "00198"
"00106247" "00198"
"00106248" "01462"
"00106249" "01462"
"00106250" "01462"
"00106251" "01462"
"00106252" "01462"
"00106253" "01462"
"00106254" "01462"
"00106255" "01462"
"00106256" "01462"
"00106257" "01462"
"00106258" "01462"
"00106259" "00198"
"00106260" "01462"
"00106261" "01462"
"00106262" "01462"
"00106263" "01462"
"00106264" "01462"
"00106265" "01462"
"00106266" "01462"
"00106267" "01462"
"00106268" "01462"
"00106269" "01462"
"00106270" "01959"
"00106271" "01462"
"00106272" "01959"
"00106273" "01462"
"00106274" "01462"
"00106275" "01462"
"00106276" "01462"
"00106277" "00198"
"00106278" "01462"
"00106279" "01462"
"00106280" "01462"
"00106281" "01462"
"00106282" "01462"
"00106283" "00198"
"00106284" "01462"
"00106285" "01462"
"00106286" "01462"
"00106287" "01462"
"00106288" "01462"
"00106289" "01462"
"00106290" "01462"
"00106291" "01462"
"00106292" "01462"
"00106293" "01462"
"00106294" "01462"
"00106295" "01462"
"00106296" "01462"
"00106297" "00198"
"00106298" "01462"
"00106299" "01462"
"00106300" "01462"
"00106301" "01462"
"00106302" "01462"
"00106303" "01462"
"00106304" "01462"
"00106305" "01462"
"00106306" "01462"
"00106307" "01462"
"00106308" "01462"
"00106309" "01462"
"00106310" "01462"
"00106311" "01462"
"00106312" "01462"
"00106313" "01462"
"00106314" "01959"
"00106315" "01959"
"00106316" "01462"
"00106317" "01462"
"00106318" "01462"
"00106319" "00244"
"00106320" "01462"
"00106321" "00244"
"00106322" "04164"
"00106323" "01462"
"00106324" "01462"
"00106325" "01462"
"00106326" "01462"
"00106327" "01462"
"00106328" "01462"
"00106329" "01462"
"00106330" "01462"
"00106331" "01462"
"00106332" "00244"
"00106333" "01462"
"00106334" "01462"
"00106335" "01462"
"00106336" "01462"
"00106337" "01462"
"00106338" "01462"
"00106350" "01462"
"00106351" "01462"
"00106352" "01462"
"00106353" "01462"
"00106354" "01462"
"00106355" "01462"
"00106356" "01462"
"00106357" "01462"
"00106358" "04164"
"00106359" "04164"
"00106360" "04164"
"00106361" "04164"
"00106362" "04164"
"00106363" "04164"
"00106364" "04164"
"00106365" "04164"
"00106366" "04164"
"00106367" "04164"
"00106368" "04164"
"00106369" "04164"
"00106370" "04164"
"00106371" "04164"
"00106372" "04164"
"00106373" "04164"
"00106374" "04164"
"00106375" "04164"
"00106376" "04164"
"00106377" "04164"
"00106378" "04164"
"00106379" "04164"
"00106380" "04164"
"00106381" "04164"
"00106382" "04164"
"00106383" "04164"
"00106384" "04164"
"00106385" "04164"
"00106386" "04164"
"00106387" "04164"
"00106388" "04164"
"00106389" "04164"
"00106390" "04164"
"00106391" "04164"
"00106392" "04164"
"00106393" "04164"
"00106394" "04164"
"00106395" "04164"
"00106396" "04164"
"00106397" "04164"
"00106398" "04164"
"00106399" "04164"
"00106400" "04164"
"00106401" "04164"
"00106402" "04164"
"00106403" "04164"
"00106404" "01462"
"00106405" "01462"
"00106406" "01462"
"00106407" "01462"
"00106408" "01462"
"00106409" "01462"
"00106410" "01462"
"00106411" "01462"
"00106412" "01462"
"00106413" "01462"
"00106414" "04164"
"00106415" "04164"
"00106416" "01462"
"00106417" "01462"
"00106418" "01462"
"00106419" "01462"
"00106420" "01462"
"00106421" "01462"
"00106422" "00244"
"00106423" "01462"
"00106424" "01462"
"00106425" "01462"
"00106426" "00198"
"00106427" "01462"
"00106428" "01462"
"00106429" "01462"
"00106430" "01462"
"00106431" "01462"
"00106432" "01462"
"00106433" "04164"
"00106434" "00198"
"00106435" "01462"
"00106436" "01462"
"00106437" "01462"
"00106438" "00244"
"00106439" "01462"
"00106440" "01462"
"00106441" "01959"
"00106442" "01959"
"00106443" "04164"
"00106444" "01462"
"00106445" "01462"
"00106446" "01462"
"00106447" "01462"
"00106448" "00244"
"00106449" "00244"
"00106450" "01462"
"00106451" "01959"
"00106452" "00244"
"00106453" "04164"
"00106454" "04164"
"00106455" "00244"
"00106456" "00244"
"00106457" "04164"
"00106458" "04164"
"00106459" "00244"
"00106460" "04164"
"00106461" "04164"
"00106462" "04164"
"00106463" "04164"
"00106464" "01959"
"00106465" "00244"
"00106466" "04164"
"00106467" "04164"
"00106468" "00198"
"00106469" "00198"
"00106470" "00198"
"00106471" "00198"
"00106472" "00198"
"00106473" "00198"
"00106474" "00198"
"00106475" "00198"
"00106476" "00198"
"00106477" "00198"
"00106478" "00198"
"00106479" "04164"
"00106480" "00244"
"00106481" "00244"
"00106482" "01959"
"00106483" "00198"
"00106484" "04164"
"00106485" "00360"
"00106486" "04164"
"00106487" "00360"
"00106488" "04164"
"00106489" "04164"
"00106490" "00244"
"00106491" "00244"
"00106492" "01959"
"00106493" "00244"
"00106494" "04164"
"00106495" "04164"
"00106496" "05299"
"00106497" "05299"
"00106498" "04164"
"00106499" "04164"
"00106500" "04164"
"00106501" "04164"
"00106502" "04164"
"00106503" "04164"
"00106504" "00244"
"00106505" "04164"
"00106506" "04164"
"00106507" "04164"
"00106508" "04164"
"00106509" "00244"
"00106510" "00244"
"00106511" "00244"
"00106528" "01462"
"00106529" "01462"
"00106530" "01462"
"00106532" "01462"
"00106533" "01462"
"00106534" "01462"
"00106655" "01462"
"00106658" "00244"
"00106680" "01462"
"00106681" "00244"
"00106682" "01462"
"00106683" "00244"
"00106684" "00244"
"00106685" "01462"
"00106686" "01462"
"00106739" "00244"
"00106740" "00244"
"00106741" "01462"
"00107542" "00244"
"00108193" "00244"
"00116799" "04164"
"00116802" "04164"
"00143684" "01462"
"00143685" "00244"
"00213106" "04164"
"00225642" "00352"
"00227770" "01959"
"00288963" "05126"
"00288972" "00244"
"00288990" "00360"
"00295666" "00198"
"00307209" "01666"
"00307229" "00385"
"00314023" "05126"
"00314024" "05126"
"00329227" "00198"
"00361482" "01462"
"00361748" "01462"
"00361749" "01462"
"00374643" "00198"
"00374644" "00198"
"00383054" "01462"
"00388142" "01462"
"00398959" "00244"
"00398960" "00244"
"00399036" "05618"
"00399040" "05618"
"00399074" "05618"
"00401648" "01462"
"00415935" "01462"
"00419171" "04164"
"00419172" "04164"
"00419173" "04164"
"00419174" "04164"
"00419175" "04164"
"00428219" "00198"
"00428241" "00198"
"00431424" "01959"
"00433371" "01462"
"00435678" "00244"
"00437028" "04164"
"00442629" "05618"
"00442630" "05618"
"00442780" "05618"
"00453468" "01462"
"00460223" "00360"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00352, 00360, 00385, 01462, 01666, 01959, 04164, 05126, 05299, 05618, 06005, 07099, 07100
## Count = 396
"{{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}}"
"0000041368" "00360" "00054689" "01399" "Familial, autosomal dominant" "3y" "infantile hypotonia, gross motor delay, walked age 2y9mo, facial weakness, hypermobility, distal laxity, obstructive sleep apnoea; CPK normal; IHC COLVI; histology dystrophic" "" "" "" "" "" "" "" "" "" "" ""
"0000083982" "00244" "00106167" "00491" "Familial, autosomal dominant" "" "dominant congenital myopthy; patients show generalized proximal weakness in early childhood; non-progressive" "" "" "" "" "" "" "" "" "" "" ""
"0000083983" "01462" "00106168" "00483" "Isolated (sporadic)" "18m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000083984" "01462" "00106169" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083985" "01462" "00106170" "00491" "Unknown" "" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000083986" "01462" "00106171" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083987" "01959" "00106172" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083988" "00244" "00106173" "00491" "Isolated (sporadic)" "3m" "AM; Patient # 2 in Goebel et al., 1997" "" "" "" "" "" "" "" "" "" "" ""
"0000083989" "00244" "00106174" "00491" "Isolated (sporadic)" "" "AM; 2.5y-floppy, very limited movement, dependent on a respirator" "" "" "" "" "" "" "" "" "" "" ""
"0000083990" "01462" "00106175" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083991" "01462" "00106176" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083992" "01462" "00106177" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083993" "01462" "00106178" "00491" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083994" "01462" "00106179" "00491" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083995" "01462" "00106180" "00483" "Isolated (sporadic)" "15d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000083996" "01462" "00106181" "00491" "Familial, autosomal dominant" "" "somatic mosaicism mother" "" "" "" "" "" "" "" "" "" "" ""
"0000083997" "01462" "00106182" "00491" "Familial, autosomal recessive" "22m" "severe; required mechanical ventilation from birth, possibly affected cousin" "" "" "" "" "" "" "" "" "" "" ""
"0000083998" "01462" "00106183" "00483" "Isolated (sporadic)" "2m" "intranuclear rods" "" "" "" "" "" "" "" "" "" "" ""
"0000083999" "01462" "00106184" "00491" "Isolated (sporadic)" "42y" "one intranuclear rod" "" "" "" "" "" "" "" "" "" "" ""
"0000084000" "01462" "00106185" "00491" "Isolated (sporadic)" "" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084001" "01462" "00106186" "00483" "Familial, autosomal dominant" "" "typical, age onset 21y/54y" "" "" "" "" "" "" "" "" "" "" ""
"0000084002" "01462" "00106187" "00491" "Familial, autosomal dominant" "47y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084003" "01462" "00106188" "00491" "Isolated (sporadic)" "2m15d" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084004" "01462" "00106189" "00491" "Isolated (sporadic)" "" "severe/intermediate ; Disease severity in email from Norma 2.2.04." "" "" "" "" "" "" "" "" "" "" ""
"0000084005" "01959" "00106190" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084006" "01462" "00106191" "00491" "Isolated (sporadic)" "8y" "typical, intranuclear rods" "" "" "" "" "" "" "" "" "" "" ""
"0000084007" "01462" "00106192" "00483" "Isolated (sporadic)" "" "typical, age onset 7y/48y" "" "" "" "" "" "" "" "" "" "" ""
"0000084008" "01462" "00106193" "00491" "Isolated (sporadic)" "4m15d" "severe myopathy, nemaline, type 3 (NEM-3);AM" "" "" "" "" "" "" "" "" "" "" ""
"0000084009" "01462" "00106194" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084010" "01462" "00106195" "00483" "Isolated (sporadic)" "5d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084011" "01462" "00106196" "00491" "Isolated (sporadic)" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084012" "01462" "00106197" "00483" "Isolated (sporadic)" "1y9m" "severe; no spontaneous movement or respiratory effort at birth; ventilator dependent" "" "" "" "" "" "" "" "" "" "" ""
"0000084013" "01462" "00106198" "00491" "Isolated (sporadic)" "10m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084014" "01462" "00106199" "00483" "Isolated (sporadic)" "4y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084015" "00198" "00106200" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084016" "01462" "00106201" "00483" "Isolated (sporadic)" "3y" "typical; 3y-wheelchair bound; both patients hypotonic in first months of life" "" "" "" "" "" "" "" "" "" "" ""
"0000084017" "01462" "00106202" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084018" "01462" "00106203" "00491" "Familial, autosomal recessive" "5d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084019" "01462" "00106204" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084020" "00198" "00106205" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084021" "01462" "00106206" "00491" "Isolated (sporadic)" "<1d" "arthrogryposis, contractures" "" "" "" "" "" "" "" "" "" "" ""
"0000084022" "01462" "00106207" "00491" "Unknown" "5m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084023" "04164" "00106208" "00491" "Isolated (sporadic)" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084024" "01462" "00106209" "00491" "Familial, autosomal dominant" "35y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084025" "01462" "00106210" "00491" "Familial, autosomal dominant" "42y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084026" "01462" "00106211" "00491" "Isolated (sporadic)" "31y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084027" "01462" "00106212" "00491" "Isolated (sporadic)" "1d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084028" "01462" "00106213" "00491" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084029" "01462" "00106214" "00491" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084030" "01462" "00106215" "00491" "Unknown" "39y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084031" "01462" "00106216" "00491" "Unknown" "9y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084032" "01462" "00106217" "00491" "Unknown" "" "typical; no parental DNA" "" "" "" "" "" "" "" "" "" "" ""
"0000084033" "01462" "00106218" "00483" "Familial, autosomal dominant" "3y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084034" "01462" "00106219" "00491" "Unknown" "45y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084035" "00198" "00106220" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084036" "01462" "00106221" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084037" "00244" "00106222" "00491" "Isolated (sporadic)" "" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084038" "01462" "00106223" "00491" "Isolated (sporadic)" "00y18m" "intranuclear rods; isolated case, parents not tested" "" "" "" "" "" "" "" "" "" "" ""
"0000084039" "00198" "00106224" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084040" "01462" "00106225" "00491" "Familial, autosomal dominant" "" "age onset 35y/10y" "" "" "" "" "" "" "" "" "" "" ""
"0000084041" "00244" "00106226" "00491" "Unknown" "5m" "AM" "" "" "" "" "" "" "" "" "" "" ""
"0000084042" "00244" "00106227" "00483" "Isolated (sporadic)" "6m" "AM, severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084043" "00244" "00106228" "00491" "Unknown" "2m15d" "AM, severe; deceased when ventilator withdrawn" "" "" "" "" "" "" "" "" "" "" ""
"0000084044" "00244" "00106229" "00491" "Unknown" "" "AM" "" "" "" "" "" "" "" "" "" "" ""
"0000084045" "01462" "00106230" "00491" "Familial, autosomal dominant" "" "mild, age onset 50y/30y" "" "" "" "" "" "" "" "" "" "" ""
"0000084046" "00244" "00106231" "00491" "Isolated (sporadic)" "" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084047" "01462" "00106232" "00491" "Unknown" "2m" "myopathy, nemaline, type 3 (NEM-3);AM;IRM" "" "" "" "" "" "" "" "" "" "" ""
"0000084048" "00244" "00106233" "00483" "Unknown" "" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084049" "00244" "00106234" "00491" "Isolated (sporadic)" "7y6m" "AM; IRM; Patient 1 in Goebel et al., 1997" "" "" "" "" "" "" "" "" "" "" ""
"0000084050" "00244" "00106235" "00491" "Unknown" "4m" "AM; IRM" "" "" "" "" "" "" "" "" "" "" ""
"0000084051" "00244" "00106236" "00491" "Familial, autosomal dominant" "" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084052" "01462" "00106237" "00491" "Familial, autosomal dominant" "" "myopathy, nemaline, type 3 (NEM-3); IRM; age onset 64y/34y/33y/3y" "" "" "" "" "" "" "" "" "" "" ""
"0000084053" "00198" "00106238" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084054" "01462" "00106239" "00491" "Unknown" "" "severe; do not have parental DNA" "" "" "" "" "" "" "" "" "" "" ""
"0000084055" "01462" "00106240" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084056" "01462" "00106241" "00491" "Unknown" "16y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084057" "01462" "00106242" "00491" "Unknown" "34y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084058" "01462" "00106243" "00491" "Unknown" "44y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084059" "01462" "00106244" "00491" "Isolated (sporadic)" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084060" "00198" "00106245" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084061" "00198" "00106246" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084062" "00198" "00106247" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084063" "01462" "00106248" "00483" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084064" "01462" "00106249" "00491" "Familial, autosomal recessive" "30m" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084065" "01462" "00106250" "00491" "Familial, autosomal recessive" "<1y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084066" "01462" "00106251" "00491" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084067" "01462" "00106252" "00491" "Familial, autosomal recessive" "<01y" "severe; parental DNA not available, autosomal recessive, homozygous for the mutation" "" "" "" "" "" "" "" "" "" "" ""
"0000084068" "01462" "00106253" "00483" "Isolated (sporadic)" "3y" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084069" "01462" "00106254" "00491" "Familial, autosomal dominant" "" "severe, age onset 1d/4d" "" "" "" "" "" "" "" "" "" "" ""
"0000084070" "01462" "00106255" "00491" "Isolated (sporadic)" "13m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084071" "01462" "00106256" "00483" "Isolated (sporadic)" "1y" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084072" "01462" "00106257" "00491" "Unknown" "" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084073" "01462" "00106258" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084074" "00198" "00106259" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084075" "01462" "00106260" "00491" "Familial, autosomal recessive" "" "severe; Tyr190*, small A peak, may be mosaic?" "" "" "" "" "" "" "" "" "" "" ""
"0000084076" "01462" "00106261" "00491" "Isolated (sporadic)" "15m" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084077" "01462" "00106262" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084078" "01462" "00106263" "00491" "Unknown" "14d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084079" "01462" "00106264" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084080" "01462" "00106265" "00483" "Isolated (sporadic)" "3m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084081" "01462" "00106266" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084082" "01462" "00106267" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084083" "01462" "00106268" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084084" "01462" "00106269" "00491" "Familial, autosomal dominant" "" "adult onset, mild, progressive; dominant,segregation not confirmed" "" "" "" "" "" "" "" "" "" "" ""
"0000084085" "01959" "00106270" "00491" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084086" "01462" "00106271" "00491" "Isolated (sporadic)" "" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084087" "01959" "00106272" "00491" "Isolated (sporadic)" "1y" "deceased from hepatic encephalopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084088" "01462" "00106273" "00491" "Unknown" "3y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084089" "01462" "00106274" "00491" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084090" "01462" "00106275" "00483" "Isolated (sporadic)" "3y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084091" "01462" "00106276" "00491" "Isolated (sporadic)" "7y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084092" "00198" "00106277" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084093" "01462" "00106278" "00491" "Isolated (sporadic)" "14d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084094" "01462" "00106279" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084095" "01462" "00106280" "00491" "Unknown" "" "age onset 31y/58y" "" "" "" "" "" "" "" "" "" "" ""
"0000084096" "01462" "00106281" "00483" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084097" "01462" "00106282" "00491" "Isolated (sporadic)" "17y" "rods pointed, lower limbs clearly weaker than upper limbs" "" "" "" "" "" "" "" "" "" "" ""
"0000084098" "00198" "00106283" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084099" "01462" "00106284" "00491" "Isolated (sporadic)" "7y" "severe; first clinical diagnosis was SMA" "" "" "" "" "" "" "" "" "" "" ""
"0000084100" "01462" "00106285" "00491" "Unknown" "" "severe; Disease severity stated in email from Carina to Dr Krcho, copied to Nigel Laing, 17.8.07" "" "" "" "" "" "" "" "" "" "" ""
"0000084101" "01462" "00106286" "00491" "Unknown" "32y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084102" "01462" "00106287" "00483" "Familial, autosomal dominant" "" "mild, childhood onset; founders parents not tested; age onset 8y/14y/16y/39y/40y" "" "" "" "" "" "" "" "" "" "" ""
"0000084103" "01462" "00106288" "00483" "Isolated (sporadic)" "8y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084104" "01462" "00106289" "00491" "Isolated (sporadic)" "10y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084105" "01462" "00106290" "00491" "Unknown" "3y9m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084106" "01462" "00106291" "00483" "Familial, autosomal recessive" "2m" "severe; contractures, no spontaneous movement at birth" "" "" "" "" "" "" "" "" "" "" ""
"0000084107" "01462" "00106292" "00491" "Isolated (sporadic)" "21m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084108" "01462" "00106293" "00491" "Unknown" "5y" "typical; mother does not carry mutation, do not have paternal DNA" "" "" "" "" "" "" "" "" "" "" ""
"0000084109" "01462" "00106294" "00491" "Isolated (sporadic)" "1y6m" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084110" "01462" "00106295" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084111" "01462" "00106296" "00491" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084112" "00198" "00106297" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084113" "01462" "00106298" "00491" "Isolated (sporadic)" "10y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084114" "01462" "00106299" "00491" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084115" "01462" "00106300" "00483" "Isolated (sporadic)" "7y" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084116" "01462" "00106301" "00491" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084117" "01462" "00106302" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084118" "01462" "00106303" "00491" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084119" "01462" "00106304" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084120" "01462" "00106305" "00491" "Isolated (sporadic)" "27y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084121" "01462" "00106306" "00491" "Unknown" "5m14d" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084122" "01462" "00106307" "00483" "Isolated (sporadic)" "9m" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084123" "01462" "00106308" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084124" "01462" "00106309" "00483" "Isolated (sporadic)" "9m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084125" "01462" "00106310" "00491" "Isolated (sporadic)" "6y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084126" "01462" "00106311" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084127" "01462" "00106312" "00483" "Unknown" "6d" "severe; erroneously stated in Nowak (1999) / Sparrow (2003) to have died at 9m - died at 6d (Agrawal et al, 2004)" "" "" "" "" "" "" "" "" "" "" ""
"0000084128" "01462" "00106313" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084129" "01959" "00106314" "00491" "Isolated (sporadic)" "3y" "deceased from respiratory complications" "" "" "" "" "" "" "" "" "" "" ""
"0000084130" "01959" "00106315" "00491" "Unknown" "3y" "no head control, and could move their distal limbs weakly, continuously ventilated by tracheostomy" "" "" "" "" "" "" "" "" "" "" ""
"0000084131" "01462" "00106316" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084132" "01462" "00106317" "00491" "Familial, autosomal dominant" "" "cardiomyopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084133" "01462" "00106318" "00491" "Isolated (sporadic)" "" "hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084134" "00244" "00106319" "00491" "Unknown" "2y6m" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084135" "01462" "00106320" "00483" "Familial" "55y" "adult onset" "42y" "" "" "" "" "" "" "" "" "" ""
"0000084136" "00244" "00106321" "00491" "Isolated (sporadic)" "10y" "AM" "" "" "" "" "" "" "" "" "" "" ""
"0000084137" "04164" "00106322" "00491" "Familial, autosomal dominant" "" "mild; intranuclear rods; Disease severity and fact biopsy has intranuclear rods in email from Isabelle Penisson-Besnier to Nigel Laing 6.9.04" "" "" "" "" "" "" "" "" "" "" ""
"0000084138" "01462" "00106323" "00491" "Isolated (sporadic)" "6m" "severe; intranuclear rods" "" "" "" "" "" "" "" "" "" "" ""
"0000084139" "01462" "00106324" "00491" "Familial, autosomal recessive" "4y4m" "severe; actin null, unable to sit up or control head etc" "" "" "" "" "" "" "" "" "" "" ""
"0000084140" "01462" "00106325" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084141" "01462" "00106326" "00491" "Isolated (sporadic)" "" "some cores" "" "" "" "" "" "" "" "" "" "" ""
"0000084142" "01462" "00106327" "00491" "Isolated (sporadic)" "4m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084143" "01462" "00106328" "00491" "Familial, autosomal dominant" "6m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084144" "01462" "00106329" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084145" "01462" "00106330" "00491" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084146" "01462" "00106331" "00483" "Familial, autosomal dominant" "" "typical, age onset 7y/34y" "" "" "" "" "" "" "" "" "" "" ""
"0000084147" "00244" "00106332" "00491" "Unknown" "" "intranuclear rod myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084148" "01462" "00106333" "00491" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084149" "01462" "00106334" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084150" "01462" "00106335" "00491" "Familial, autosomal dominant" "" "typical, mild" "" "" "" "" "" "" "" "" "" "" ""
"0000084151" "01462" "00106336" "00491" "Unknown" "8m" "severe; ventilator-dependent from birth" "" "" "" "" "" "" "" "" "" "" ""
"0000084152" "01462" "00106337" "00491" "Isolated (sporadic)" "05y" "severe; Ventilator from neonate period, listed as de novo AND isolated case," "" "" "" "" "" "" "" "" "" "" ""
"0000084153" "01462" "00106338" "00491" "Isolated (sporadic)" "1y" "severe; Ventilator from neonate period" "" "" "" "" "" "" "" "" "" "" ""
"0000084154" "01462" "00106350" "00491" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084155" "01462" "00106351" "00491" "Familial, autosomal recessive" "" "severe; Severity of disease stated in an email from Dr Letteboer on 17.5.06. Mother from Morocco, Father from Algeria." "" "" "" "" "" "" "" "" "" "" ""
"0000084156" "01462" "00106352" "00491" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084157" "01462" "00106353" "00483" "Isolated (sporadic)" "11y" "severe; Ventilator-dependent and tube-fed since birth; 11y-severe weakness" "" "" "" "" "" "" "" "" "" "" ""
"0000084158" "01462" "00106354" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084159" "01462" "00106355" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084160" "01462" "00106356" "00491" "Unknown" "" "father tested, mother N/A" "" "" "" "" "" "" "" "" "" "" ""
"0000084161" "01462" "00106357" "00491" "Familial, autosomal dominant" "3y" "3y-can stand and walk a few steps" "" "" "" "" "" "" "" "" "" "" ""
"0000084162" "04164" "00106358" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084163" "04164" "00106359" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084164" "04164" "00106360" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084165" "04164" "00106361" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084166" "04164" "00106362" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084167" "04164" "00106363" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084168" "04164" "00106364" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084169" "04164" "00106365" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084170" "04164" "00106366" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084171" "04164" "00106367" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084172" "04164" "00106368" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084173" "04164" "00106369" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084174" "04164" "00106370" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084175" "04164" "00106371" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084176" "04164" "00106372" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084177" "04164" "00106373" "00491" "Familial, autosomal recessive" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084178" "04164" "00106374" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084179" "04164" "00106375" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084180" "04164" "00106376" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084181" "04164" "00106377" "00491" "Familial, autosomal recessive" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084182" "04164" "00106378" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084183" "04164" "00106379" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084184" "04164" "00106380" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084185" "04164" "00106381" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084186" "04164" "00106382" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084187" "04164" "00106383" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084188" "04164" "00106384" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084189" "04164" "00106385" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084190" "04164" "00106386" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084191" "04164" "00106387" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084192" "04164" "00106388" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084193" "04164" "00106389" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084194" "04164" "00106390" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084195" "04164" "00106391" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084196" "04164" "00106392" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084197" "04164" "00106393" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084198" "04164" "00106394" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084199" "04164" "00106395" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084200" "04164" "00106396" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084201" "04164" "00106397" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084202" "04164" "00106398" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084203" "04164" "00106399" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084204" "04164" "00106400" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084205" "04164" "00106401" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084206" "04164" "00106402" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084207" "04164" "00106403" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084208" "01462" "00106404" "00491" "Isolated (sporadic)" "" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084209" "01462" "00106405" "00491" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084210" "01462" "00106406" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084211" "01462" "00106407" "00491" "Familial, autosomal dominant" "" "mild; childhood onset" "" "" "" "" "" "" "" "" "" "" ""
"0000084212" "01462" "00106408" "00491" "Isolated (sporadic)" "" "severe; deseased; lethal" "" "" "" "" "" "" "" "" "" "" ""
"0000084213" "01462" "00106409" "00491" "Isolated (sporadic)" "" "intermediate, cap structures also present" "" "" "" "" "" "" "" "" "" "" ""
"0000084214" "01462" "00106410" "00491" "Unknown" "18m" "severe, hypotonia, severe muscle weakness, fibre type disproportion, nemaline bodies on electron microscopy" "" "" "" "" "" "" "" "" "" "" ""
"0000084215" "01462" "00106411" "00491" "Isolated (sporadic)" "" "intermediate; Type 2" "" "" "" "" "" "" "" "" "" "" ""
"0000084216" "01462" "00106412" "00491" "Isolated (sporadic)" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000084217" "01462" "00106413" "00491" "Unknown" "8m" "intermediate; 8m-limbs antigravity, almost 24 hours nasal BIPAP" "" "" "" "" "" "" "" "" "" "" ""
"0000084218" "04164" "00106414" "00491" "Isolated (sporadic)" "1y9m" "actin intranuclear rod and nemaline myopathy; diagnosed as actin myopathy, based on the cytoplasmic accumulation of thin filament aggregates. Intranuclear rods and dispersed, tiny nemaline bodies were also seen. n addition, the patient also showed supraorbital cranial sclerosis and striation of the iliac bone, which were reminiscent of the findings in osteopathia striata-cranial sclerosis. Hepatomegaly, undescended testis, right ureter-bladder constriction, and dilatation of lateral ventricles with signal change in the periventicular white matter were also noted. These may contribute to broaden the spectrum of actinopathy phenotypes." "1y9m" "" "birth-marked hypotonia, respiratory insufficiency" "" "" "" "" "" "" "" ""
"0000084219" "04164" "00106415" "00491" "Unknown" "" "NEM requested" "" "" "" "" "" "" "" "" "" "" ""
"0000084220" "01462" "00106416" "00491" "Unknown" "" "mild; relatively mild form of congenital variant (email from Francesco 12.12.08)" "" "" "" "" "" "" "" "" "" "" ""
"0000084221" "01462" "00106417" "00491" "Unknown" "" "severe; severe, floppy from birth gastrostomy and now trachi ventilated, aged 2.5 (email from Francesco 12.12.08)" "" "" "" "" "" "" "" "" "" "" ""
"0000084222" "01462" "00106418" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084223" "01462" "00106419" "00491" "Isolated (sporadic)" "" "severe; This is the patient from Oxford with the strange paroxysmal rigidity and cardiac abnormality phenotype." "" "" "" "" "" "" "" "" "" "" ""
"0000084224" "01462" "00106420" "00491" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084225" "01462" "00106421" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084226" "00244" "00106422" "00491" "Unknown" "" "intranuclear rod myopathy; deceased; Email from Francesco 6.1.09" "" "" "" "" "" "" "" "" "" "" ""
"0000084227" "01462" "00106423" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084228" "01462" "00106424" "00464" "Familial, autosomal dominant" "" "one patient biopsy right arm showed ìdenervationî changes, no nemaline rods; phenotype exactly like other affected family members, he has thin habitus, severe proximal weakness, with facial weakness and bilateral scapular winging (Tahseen email 30.1.09)" "" "" "" "" "" "" "" "" "" "" ""
"0000084229" "01462" "00106425" "00464" "Isolated (sporadic)" "" "severe, early-onset" "" "" "" "" "" "" "" "" "" "" ""
"0000084230" "00198" "00106426" "00491" "Isolated (sporadic)" "" "atypical" "" "" "" "" "" "" "" "" "" "" ""
"0000084231" "01462" "00106427" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084232" "01462" "00106428" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084233" "01462" "00106429" "00491" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084234" "01462" "00106430" "00491" "Unknown" "" "severe arthrogryposis" "" "" "" "" "" "" "" "" "" "" ""
"0000084235" "01462" "00106431" "00491" "Isolated (sporadic)" "" "congenital myopathy; muscle biopsy shows intra-nuclear rods and nemaline bodies on EM" "" "" "" "" "" "" "" "" "" "" ""
"0000084236" "01462" "00106432" "00464" "Isolated (sporadic)" "" "mild, muscle biopsy consistent with nemaline myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084237" "04164" "00106433" "00464" "Familial, autosomal recessive" "" "congenital onset, muscle biopsy with rods" "" "" "" "" "" "" "" "" "" "" ""
"0000084238" "00198" "00106434" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084239" "01462" "00106435" "00491" "Familial, autosomal recessive" "19d" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000084240" "01462" "00106436" "00491" "Familial, autosomal dominant" "3y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084241" "01462" "00106437" "00491" "Familial, autosomal dominant" "18y" "typical" "" "" "" "" "" "" "" "" "" "" ""
"0000084242" "00244" "00106438" "00006" "Isolated (sporadic)" "5y" "cap myopathy; pregnancy reduced fetal movements; birth weight 3160g, 39w, caesarian section; respiratory efforts (1h intubated), weak cry, low hairline, micrognathia, high arched palate, single palmar crease, long fingers, undescended testes; GJ tube and tracheostomy; 4y11m-hypotonic, generalized muscle atrophy, muscle strength MRC2/5 (upper)/1/5 (lower extremities), absent deep tendon reflexes; died cardiac arrest" "" "" "" "" "" "" "" "" "" "" ""
"0000084243" "01462" "00106439" "00464" "Isolated (sporadic)" "" "Severe congenital nemaline myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084244" "01462" "00106440" "00491" "Isolated (sporadic)" "<2m" "" "1d" "" "" "" "" "" "" "" "" "" ""
"0000084245" "01959" "00106441" "01951" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084246" "01959" "00106442" "01951" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084247" "04164" "00106443" "00491" "Isolated (sporadic)" "" "Mild nemaline myopathy, high CK but high CK largely due to cardiac CK; CPK: 5370 IU/L" "" "" "" "" "" "" "" "" "" "" ""
"0000084248" "01462" "00106444" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084249" "01462" "00106445" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084250" "01462" "00106446" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084251" "01462" "00106447" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084252" "00244" "00106448" "00464" "Isolated (sporadic)" "" "myopathy, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000084253" "00244" "00106449" "00491" "Isolated (sporadic)" "1d" "myopathy, actin; akinesia, foetal" "" "" "" "" "" "" "" "" "" "" ""
"0000084254" "01462" "00106450" "00464" "Unknown" "3m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084255" "01959" "00106451" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084256" "00244" "00106452" "00464" "Unknown" "" "myopathy; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084257" "04164" "00106453" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084258" "04164" "00106454" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084259" "00244" "00106455" "00464" "Unknown" "" "myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084260" "00244" "00106456" "00464" "Unknown" "" "myopathy, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000084261" "04164" "00106457" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084262" "04164" "00106458" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084263" "00244" "00106459" "00490" "Isolated (sporadic)" "" "congenital myopathy with fibre type disproportion, normal CK values; CPK: normal" "<0d" "" "" "" "" "" "" "" "" "" ""
"0000084264" "04164" "00106460" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084265" "04164" "00106461" "00526" "Isolated (sporadic)" "" "Hypotonic, facial weakness" "" "" "" "" "" "" "" "" "" "" ""
"0000084266" "04164" "00106462" "00526" "Isolated (sporadic)" "" "Hypotonia with disproportionate feeding, respiratory difficulties" "" "" "" "" "" "" "" "" "" "" ""
"0000084267" "04164" "00106463" "00526" "Isolated (sporadic)" "" "Weakness, no sensory loss, strong calves, areflexic, normal intelligence" "" "" "" "" "" "" "" "" "" "" ""
"0000084268" "01959" "00106464" "00526" "Unknown" "" "EM: CFTD with possible minicores, decreased fetal movements, hypotonia, joint laxity, ambulant and able to climb stairs; CPK: 53" "" "" "" "" "" "" "" "" "" "" ""
"0000084269" "00244" "00106465" "00526" "Isolated (sporadic)" "" "Congenital myopathy; Hypotonic from birth. Knee flexion and hip flexion contractures, predominantly proximal weakness.; CPK: 38" "1d" "" "" "" "" "" "" "" "" "" ""
"0000084270" "04164" "00106466" "00526" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084271" "04164" "00106467" "00526" "Isolated (sporadic)" "" "gait abnormality, normal nerve conduction, delayed motor milestones (quality of walking: walked at 14/12 but prone to hipping and falling).; walks with high stepping gait; proximal muscle weakness; CPK: 97" "" "" "" "" "" "" "" "" "" "" ""
"0000084272" "00198" "00106468" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084273" "00198" "00106469" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084274" "00198" "00106470" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084275" "00198" "00106471" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084276" "00198" "00106472" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084277" "00198" "00106473" "00430" "Isolated (sporadic)" "" "?Cap myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084278" "00198" "00106474" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084279" "00198" "00106475" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084280" "00198" "00106476" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084281" "00198" "00106477" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084282" "00198" "00106478" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084283" "04164" "00106479" "00490" "Isolated (sporadic)" "" "" "1d" "" "" "" "" "" "" "" "" "" ""
"0000084284" "00244" "00106480" "00526" "Familial, autosomal dominant" "" "congenital myopathy with CFTD; decreased fetal movements, hypotonia, delayed motor milestones, joint laxity; muscle weakness: facial, axial, proximal mostly; CPK: normal" ">1m" "" "" "" "" "" "" "" "" "" ""
"0000084285" "00244" "00106481" "00464" "Familial, autosomal dominant" "" "myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084286" "01959" "00106482" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084287" "00198" "00106483" "00540" "Isolated (sporadic)" "" "reduced movements in utero, proximal muscle hypotonia postnatally; ptosis, poor sucking and swallowing, maldescended testis (r), weak reflexes, no fasciculations on examination at 22weeks: high arched palate, massive atrophy of muscle shoulder bulk and pelvic muscles, as well as intercostal muscle weakness, diaphragmatic breathing, heart ok, no hepatosplenomegaly, weight 9.3 kg (P2), BMI 12.29 kg/m2 (9y from severe heart failure" "" "" "" "" "" "" "" "" "" "" ""
"0000084293" "04164" "00106489" "00491" "Unknown" "" "Patient, 31 years old, NSW, Australia" "" "" "" "" "" "" "" "" "" "" ""
"0000084294" "00244" "00106490" "00491" "Unknown" "4m" "myopathy, congenital; died at 4m" "" "" "" "" "" "" "" "" "" "" ""
"0000084295" "00244" "00106491" "00491" "Isolated (sporadic)" "" "myopathy, congenital; facial diplegia, poor gag & swallowing, marked truncal and neck hypotonia, reflexes present but diminished" "" "" "" "" "" "" "" "" "" "" ""
"0000084296" "01959" "00106492" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084297" "00244" "00106493" "00464" "Unknown" "" "myopathy, congenital; dilated cardiomyopathy (severe)" "" "" "" "" "" "" "" "" "" "" ""
"0000084298" "04164" "00106494" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084299" "04164" "00106495" "00491" "Isolated (sporadic)" "" "actinopathy, nemaline myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084300" "05299" "00106496" "00491" "Unknown" "" "CPK: 270-1680" "" "" "" "" "" "" "" "" "" "" ""
"0000084301" "05299" "00106497" "00491" "Unknown" "" "Patients described to have features of myofibrillar myopathy pathologically, no nemaline bodies seen." "1d" "" "" "" "" "" "" "" "" "" ""
"0000084302" "04164" "00106498" "00491" "Familial, autosomal dominant" "" "Mother is somatic mosaic at very low level for mutation in two affected children, a brother and a sister" "1d" "" "" "" "" "" "" "" "" "" ""
"0000084303" "04164" "00106499" "00491" "Familial, autosomal recessive" "" "" "<0d" "" "" "" "" "" "" "" "" "" ""
"0000084304" "04164" "00106500" "00491" "Isolated (sporadic)" "" "nemaline bodies only identified on 3rd biopsy at age 19; CPK: 3x" "<0d" "" "hypotonia at birth" "" "" "" "" "" "" "" ""
"0000084305" "04164" "00106501" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084306" "04164" "00106502" "00491" "Familial, autosomal dominant" "" "Autosomal dominant family described in Abstract of World Muscle Society 2013 Annual Congress, Asilomar, California" "" "" "" "" "" "" "" "" "" "" ""
"0000084307" "04164" "00106503" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084308" "00244" "00106504" "00491" "Isolated (sporadic)" "" "intranuclear rod myopathy,u atonomic dysfunction" "1d" "" "" "" "" "" "" "" "" "" ""
"0000084309" "04164" "00106505" "00491" "Isolated (sporadic)" "" "severe, ventilator dependent at 5 months in paediatric intensive care, nemaline myopathy by EM" "" "" "" "" "" "" "" "" "" "" ""
"0000084310" "04164" "00106506" "00491" "Isolated (sporadic)" "" "poor feeding, hypotonia, muscle biopsy consistent with nemaline myopathy; Testing done at Emory, don\'t know where the patient was actually from" "" "" "" "" "" "" "" "" "" "" ""
"0000084311" "04164" "00106507" "00491" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084312" "04164" "00106508" "03755" "Familial, autosomal dominant" "58y" "mild, long-standing history of mild congenital myopathy-like condition. Rods by both LM and EM, fibre type disproportion. Mother aged in 80s also has variant. Mother described to be \"very strong\" email 18.8.2015" "" "" "" "" "" "" "" "" "" "" ""
"0000084313" "00244" "00106509" "00491" "Unknown" "" "congenital myopathy; Muscle biopsy with core myopathy, increased internal nuclei, type 1 predominance. Other family members not yet analysed" "" "" "" "" "" "" "" "" "" "" ""
"0000084314" "00244" "00106510" "00491" "Unknown" "" "congenital myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084315" "00244" "00106511" "00491" "Unknown" "" "myotubular myopathy;e tsting other familiy members not done yet" "" "" "" "" "" "" "" "" "" "" ""
"0000084341" "01462" "00106530" "00491" "Unknown" "00y00m00d" "Hypoxic, ischaemic encephalopathy, intranuclear rod myopathy, generalised hypotonia" "" "birth" "" "" "" "" "" "" "" "" ""
"0000084343" "01462" "00106203" "00491" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084401" "01462" "00106252" "00491" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084463" "01462" "00106655" "00491" "Unknown" "00y00m00d" "Nemaline myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084478" "00244" "00106681" "00491" "Unknown" "" "Congenital myopathy - no rods" "" "" "" "" "" "" "" "" "" "" ""
"0000084479" "01462" "00106682" "00491" "Familial" "" "Nemaline myopathy, but variant inherited from unaffected parent, therefore pathogenicity uncertain" "" "" "" "" "" "" "" "" "" "" ""
"0000084480" "00244" "00106683" "00491" "Unknown" "00y00m00d" "Profoundly hypotonic at birth with no perceivable movements, other than eye movements. Discharged at 4 months of age on mechanical ventilation. Last examination described at age 5: some flicker movements of fingers and toes" "" "00y00m00d" "" "" "" "" "" "" "" "" ""
"0000084481" "00244" "00106684" "00491" "Unknown" "" "Fraternal twins described by Donkervoort et al 2017 with cytoplasmic body myopathy. Both twins had evidence of facial weakness, generalized hypotonia with marked head lag, and severe weakness with only minimal movements of the fingers and toes. Extraocular movements were normal" "" "" "" "" "" "" "" "" "" "" ""
"0000084482" "01462" "00106685" "00491" "Unknown" "" "Floppy infant. Myopathic face with high arched palate. CK=130 Diagnosed with nemaline myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084483" "01462" "00106686" "00491" "Unknown" "00y00m00d" "Muscle weakness from birth. Motor developmental delay. CK = 10 Diagnosed with nemaline myopathy" "" "00y00m00d" "" "" "" "" "" "" "" "" ""
"0000084536" "00244" "00106739" "00491" "Unknown" "" "Described as congenital myopathy" "" "" "" "" "" "" "" "" "" "" ""
"0000084537" "00244" "00106740" "00491" "Unknown" "" "Described as congenital myopathy with de novo ACTA1 mutation" "" "" "" "" "" "" "" "" "" "" ""
"0000084538" "01462" "00106741" "00491" "Unknown" "" "Patient described as having a congenital myopathy with nemaline rods and a de novo ACTA1 mutation" "" "" "" "" "" "" "" "" "" "" ""
"0000085333" "00244" "00107542" "00491" "Familial" "" "Patient diagnosed with congenital myopathy. First muscle biopsy stated to contain zebra-body like structures, thickened Z lines myofibrillar disorganisation. Second biopsy did not show zebra bodies. Totally asymptomatic father showed same ACTA1 c.529A>G (p.Ile177Val) variant with no sign of mosaicism from Sanger sequencing" "" "" "" "" "" "" "" "" "" "" ""
"0000085788" "00244" "00108193" "02178" "Isolated (sporadic)" "23y" "idiopathic hyperCKemia (CK 2500-4000)" "" "" "" "" "" "" "" "" "" "idiopathic hyperCKemia" ""
"0000087158" "00244" "00106658" "00006" "Familial, autosomal dominant" "" "diagnosed with zebra body myopathy, has affected daughter" "" "" "" "" "" "" "" "" "" "" ""
"0000092280" "04164" "00116799" "00491" "Familial, autosomal dominant" "" "Grandmother, mother and son all affected" "" "" "" "" "" "" "" "" "" "" ""
"0000092281" "04164" "00116802" "00491" "-" "00y00m04d" "MRI showed multiple foci in the white matter and prominent subarachnoid spaces. These may result from hypoxia." "00y00m00d" "00y00m04d" "Birth" "" "" "" "" "" "" "" ""
"0000116446" "01462" "00143684" "00491" "Isolated (sporadic)" "00y00m00d" "Weakness from birth, ventilator dependent, no gag, minimum spontaneous movements, low tone, hypotonic, absence of reflexes, no fasciculations, clinical diagnosis of congenital myopathy" "" "00y00m00d" "" "" "" "" "" "" "" "" ""
"0000162079" "04164" "00213106" "00491" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000222598" "05126" "00288963" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "LGMD" ""
"0000222607" "00244" "00288972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" ""
"0000222625" "00360" "00288990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital muscular dystrophy" ""
"0000223230" "00198" "00295666" "01164" "Unknown" "" "Poor suck (HP:0002033); Muscular hypotonia of the trunk (HP:0008936)" "" "" "" "" "" "" "" "" "" "" ""
"0000233014" "01666" "00307209" "00534" "Isolated (sporadic)" "" "antenatal onset fetal akinesia sequence; neonatal hypotonia; macrocephaly at birth; frontal bossing; cryptorchidism; congenital finger flexion contractures; contractures joints upper limbs; contractures joints lower limbs; aplasia/hypoplasia; palmar creases" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" ""
"0000233034" "00385" "00307229" "00534" "Isolated (sporadic)" "" "abnormality of prenatal development or birth; arthrogryposis multiplex congenita; amyoplasia" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" ""
"0000247419" "00198" "00329227" "01807" "Unknown" "" "Arthrogryposis multiplex congenita (HP:0002804); Fetal akinesia sequence (HP:0001989)" "" "" "" "" "" "" "" "" "" "" ""
"0000254859" "01462" "00106533" "03755" "Unknown" "" "Neonatal death from congenital myopathy: congenital fibre type disproportion." "" "" "" "" "" "" "" "" "" "" ""
"0000254877" "01462" "00106440" "00491" "-" "" "" "" "" "" "" "" "" "" "" "" "severe nemaline myopathy phenotype" ""
"0000256886" "01462" "00361482" "03755" "Familial, autosomal dominant" "68y" "diagnosed with distal myopathy, biopsy showed nemaline bodies, two children, male and female also affected. Proband examined age 68y, but onset in early childhood" "" "" "" "" "" "" "" "" "" "" ""
"0000257139" "01462" "00361748" "03755" "Familial, autosomal dominant" "" "type 1 fibre atrophy in the proband daughter, onset early childhood in daughter, age 11 in father." "" "" "" "" "" "" "" "" "" "" ""
"0000257140" "01462" "00361749" "03755" "Familial, autosomal dominant" "39y" "mild late presenting nemaline myopathy with cores," "" "" "" "" "" "" "" "" "" "" ""
"0000269853" "00198" "00374643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "myopathy" ""
"0000269854" "00198" "00374644" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" ""
"0000276844" "01462" "00383054" "03755" "Isolated (sporadic)" "" "Examined at 2 days of age. fully ventilated, no respiratory effort, diaphragms poor movement, no real limb movement apart from one hand with distal movements, no swallow/gag, has had pleural effusions" "" "" "" "" "" "" "" "" "" "severe nemaline myopathy phenotype" ""
"0000281736" "01462" "00388142" "03755" "Isolated (sporadic)" "19y" "Mild nemaline myopathy, onset age 15, elongated face, high palate, pigeon breast deformity, idopathic scoliosisdistal atrophy in upper limbs, mild difficulty swallowing and dysarthria, pseudohypertrophy of gastrocnemius. CK mildly elevated 456 (normal range 19-226)" "15y" "19y" "" "" "" "" "" "" "ACTA1 nemaline myopathy" "" ""
"0000292048" "00244" "00398959" "00006" "Familial, autosomal dominant" "10y" "newborn hypotonia; 3y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 3y-nocturnal noninvasive ventilation; scoliosis (no surgery); 9y-no cardiac involvement" "1d" "" "newborn hypotonia" "" "" "" "" "" "" "congenital myopathy" ""
"0000292049" "00244" "00398960" "00006" "Familial, autosomal dominant" "9y" "newborn hypotonia; 3y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weakness; 2m-gastrostomy; scoliosis (4y-surgery); 6y-no cardiac involvement; intellectual disability, ventilatory support during neonatal period" "1d" "" "newborn hypotonia" "" "" "" "" "" "" "congenital myopathy" ""
"0000292124" "05618" "00399036" "00006" "Unknown" "" "serum CK normal; muscle biopsy myopathic changes; hypomimia, severe scoliosis, respiratory insufficiency, axial hypotonia" "1d" "" "" "" "" "" "" "" "" "neuromuscular disorder" ""
"0000292128" "05618" "00399040" "00006" "Unknown" "17y" "serum CK <200 U/L; muscle biopsy congenital fiber type disproportion; hypotonia" "<1m" "" "" "" "" "" "" "" "" "congenital myopathy" ""
"0000292162" "05618" "00399074" "00006" "Unknown" "" "generalized muscle weakness, scoliosis, facial and neck muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" ""
"0000294422" "01462" "00401648" "04254" "Isolated (sporadic)" "" "Severe phenotype; myopathic features with mild contractures of arms at elbows and knees and feet. Intolerance to feeds and required TPN, oral and bulbar issues and secretions. Ventilated with plural effusions draining bilaterally requiring albumin transfusions (100ml/kg draining per day) no respiratory effort." "" "" "birth" "" "" "" "" "" "Nemaline Myopathy" "Nemaline myopathy" ""
"0000294423" "01462" "00401648" "04254" "Isolated (sporadic)" "" "Limb joint contracture HP:0003121\r\nMuscle weakness HP:0001324\r\nRespiratory insufficiency due to muscle weakness HP:0002747\r\nGut failure; TPN dependent\r\nPlural effusion; 100ml/kg/day draining" "" "" "" "" "" "" "" "" "Nemaline Myopathy" "Nemaline myopathy" ""
"0000307706" "01462" "00415935" "03652" "Unknown" "06y03m" "HP:0001319 Neonatal hypotonia\r\nHP:0011968 Feeding difficulties\r\nHP:0003701 Proximal muscle weakness\r\nHP:0003391 Gowers sign\r\nHP:0002515 Waddling gait\r\nHP:0003798 Nemaline bodies\r\nHP:0003803 Type 1 muscle fiber predominance\r\nHP:0000276 Long face\r\nHP:0000218 High palate\r\nHP:0000767 Pectus excavatum\r\nHP:0002205 Recurrent respiratory infections\r\nHP:0002761 Generalized joint laxity" "" "05y09m" "" "" "" "" "" "" "NEM3 (#161800)" "" ""
"0000310459" "04164" "00419171" "00006" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "NEM3" "nemaline myopathy" ""
"0000310460" "04164" "00419172" "00006" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "NEM3" "nemaline myopathy" ""
"0000310461" "04164" "00419173" "00006" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "NEM3" "nemaline myopathy" ""
"0000310462" "04164" "00419174" "00006" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "NEM3" "nemaline myopathy" ""
"0000310463" "04164" "00419175" "00006" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "NEM3" "nemaline myopathy" ""
"0000319131" "00198" "00428219" "00006" "Familial, autosomal dominant" "<0d" "termination pregnancy 17w; reduced fetal movements, ulnar deviation of the hands; contractures shoulders, elbows, wrists, fingers, hips, talipes equinovarus (bilateral); macrocephaly, hypertelorism, telecanthus, protrusio bulbi, micrognathia and retrognathia, short philtrum, cleft palate, low-set ears, microstomia, pterygia at axillae and elbows, clinodactyly, camptodactyly; amyodysplasia of abdominal wall, spine muscles, and diaphragm, pulmonary hypoplasia, pectus carinatum, atrioseptal defect, anal ectopia, scoliosis" "" "" "" "" "" "" "" "" "NEM3" "fetal akinesia" ""
"0000319153" "00198" "00428241" "00006" "Isolated (sporadic)" "" "generalised, asymmetric structural myopathy, no contractures" "" "" "" "" "" "" "" "" "" "" ""
"0000321996" "01959" "00431424" "01164" "Unknown" "" "Severe short stature, Bilateral talipes equinovarus, Radial club hand, Microretrognathia, Ventricular septal defect, Abnormality of prenatal development or birth" "" "" "" "" "" "" "" "" "" "prenatal" ""
"0000323891" "01462" "00433371" "01164" "Unknown" "02y" "Scoliosis, Unilateral ptosis, Unilateral facial palsy, Talipes, Hypotonia, Proximal muscle weakness, Proximal amyotrophy, Pes cavus, Hand muscle atrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000325862" "00244" "00435678" "00006" "Familial, autosomal dominant" "16y" "see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal I V; no deformity; CK level 252U/L" "" "" "" "" "" "" "" "" "" "lower limbs weakness" ""
"0000326947" "04164" "00437028" "00006" "Unknown" "" "see paper; ..., no debut at brith; muscle weakness; facial anomaly; no neck flexors; proximal limb muscles; no distal limb muscles; hypotonia; areflexia; no ophthalmoplegia; no bimodal communication; normal intelligence; no cardiac involvement; no bulbar weakness; no respiratory insufficiency; walk independently; no wheelchair dependence; cephalic support; sedestation; no drooling; no scoliosis; ogival palate; ankle contractures; no articular hypermobility; no percutaneous endoscopic gastrostomy feeding; no mechanic ventilation" "" "" "" "" "" "" "" "" "" "typical nemaline myopathy" ""
"0000327846" "00244" "00143685" "03755" "Isolated (sporadic)" "" "Termination of pregnancy at 20 weeks" "" "" "" "" "" "" "" "" "nemaline myopathy confirmed by EM" "" ""
"0000331976" "05618" "00442629" "00006" "Isolated (sporadic)" "7y" "Congenital hypotonia, muscle weakness, minimal ptosis; muscle biopsy: muscular dystrophy with normal merosin, dystrophin and sarcoglycan staining" "1d" "" "" "" "" "" "" "" "" "Muscular dystrophy" ""
"0000331977" "05618" "00442630" "00006" "Isolated (sporadic)" "23y" "deceased; generalised weakness, little spontaneous movement, club feet, reduced respiratory function, white matter brain abnormalities; muscle biopsy: neurogenic abnormalities" "<0d" "" "" "" "" "" "" "" "" "Club feet and hypotonia" ""
"0000332127" "05618" "00442780" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Muscle dystrophy, congenital hypotonia" ""
"0000342132" "01462" "00453468" "01164" "Unknown" "02y" "Abnormality of the nervous system, Myopathy, Scoliosis, Shoulder girdle muscle atrophy, Scapular winging" "" "" "" "" "" "" "" "" "CMYO2A" "myopathy" ""
"0000347951" "00360" "00460223" "00006" "Isolated (sporadic)" "3m1d" "see paper; ..., motor retardation; hypotonia; EEG abnormal infant EEG, right sleep spindles decreased; EMG myopathic lesion; increased CK-MB, LDH; muscle biopsy nemaline myopathy; dysphagia/poor feeding, respiratory insufficiency, patent foramen ovale" "" "" "" "" "" "" "" "" "CMYP2C" "congenital muscular dystrophy/myopathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 423
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000034711" "00034641" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034712" "00034642" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034713" "00034643" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034714" "00034644" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034715" "00034645" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034716" "00034646" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034717" "00034647" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034718" "00034648" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034719" "00034649" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034720" "00034650" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034721" "00034651" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000054638" "00054689" "1" "01399" "01399" "2015-11-08 12:06:11" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000106636" "00106167" "0" "00491" "00491" "2007-11-09 14:05:52" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106637" "00106168" "0" "00483" "00483" "2007-11-09 15:03:53" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106638" "00106169" "0" "00491" "00491" "2007-11-09 15:08:50" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106639" "00106170" "0" "00491" "00491" "2007-11-09 15:11:55" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106640" "00106171" "0" "00491" "00491" "2007-11-09 15:15:49" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106641" "00106172" "0" "00491" "00491" "2007-11-12 08:05:01" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106642" "00106173" "0" "00491" "00491" "2007-11-12 08:17:29" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106643" "00106174" "0" "00491" "00491" "2007-11-12 08:42:03" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106644" "00106175" "0" "00491" "00491" "2007-11-12 08:58:08" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106645" "00106176" "0" "00491" "00491" "2007-11-12 09:00:49" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106646" "00106177" "0" "00491" "00491" "2007-11-12 09:12:54" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106647" "00106178" "0" "00491" "00491" "2007-11-12 14:15:39" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106648" "00106179" "0" "00491" "00491" "2007-11-12 14:22:36" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106649" "00106180" "0" "00483" "00483" "2007-11-12 14:26:25" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106650" "00106181" "0" "00491" "00491" "2007-11-12 14:44:38" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106651" "00106182" "0" "00491" "00491" "2007-11-12 15:14:34" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106652" "00106183" "0" "00483" "00483" "2007-11-12 15:24:06" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106653" "00106184" "0" "00491" "00491" "2007-11-12 15:27:40" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106654" "00106185" "0" "00491" "00491" "2007-11-13 17:23:43" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106655" "00106186" "0" "00483" "00483" "2007-11-13 17:28:25" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106656" "00106187" "0" "00491" "00491" "2007-11-14 06:16:17" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106657" "00106188" "0" "00491" "00491" "2007-11-14 06:19:19" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106658" "00106189" "0" "00491" "00491" "2007-11-14 06:23:28" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106659" "00106190" "0" "00491" "00491" "2007-11-14 13:18:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106660" "00106191" "0" "00491" "00491" "2007-11-14 13:43:15" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106661" "00106192" "0" "00483" "00483" "2007-11-14 13:47:50" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106662" "00106193" "0" "00491" "00491" "2007-11-14 23:05:46" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106663" "00106194" "0" "00491" "00491" "2007-11-14 23:09:02" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106664" "00106195" "0" "00483" "00483" "2007-11-14 23:24:33" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106665" "00106196" "0" "00491" "00491" "2007-11-14 23:35:04" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106666" "00106197" "0" "00483" "00483" "2007-11-14 23:43:25" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106667" "00106198" "0" "00491" "00491" "2007-11-14 23:52:39" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106668" "00106199" "0" "00483" "00483" "2007-11-14 23:55:33" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106669" "00106200" "0" "00491" "00491" "2007-11-14 23:59:03" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106670" "00106201" "0" "00483" "00483" "2007-11-15 00:06:51" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106671" "00106202" "0" "00491" "00491" "2007-11-15 00:09:44" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106672" "00106203" "0" "00491" "00491" "2007-11-15 00:18:13" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106673" "00106204" "0" "00491" "00491" "2007-11-15 00:21:16" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106674" "00106205" "0" "00491" "00491" "2007-11-15 00:25:11" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106675" "00106206" "0" "00491" "00491" "2007-11-15 00:36:30" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106676" "00106207" "0" "00491" "00491" "2007-11-15 00:40:47" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106677" "00106208" "0" "00491" "00491" "2007-11-15 00:43:17" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106678" "00106209" "0" "00491" "00491" "2007-11-15 00:53:02" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106679" "00106210" "0" "00491" "00491" "2007-11-15 00:58:17" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106680" "00106211" "0" "00491" "00491" "2007-11-15 01:01:23" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106681" "00106212" "0" "00491" "00491" "2007-11-15 01:05:20" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106682" "00106213" "0" "00491" "00491" "2007-11-15 01:11:02" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106683" "00106214" "0" "00491" "00491" "2007-11-15 01:15:57" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106684" "00106215" "0" "00491" "00491" "2007-11-15 01:25:47" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106685" "00106216" "0" "00491" "00491" "2007-11-15 01:28:37" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106686" "00106217" "0" "00491" "00491" "2007-11-15 01:30:31" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106687" "00106218" "0" "00483" "00483" "2007-11-15 10:56:51" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106688" "00106219" "0" "00491" "00491" "2007-11-15 11:07:56" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106689" "00106220" "0" "00491" "00491" "2007-11-15 11:10:56" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106690" "00106221" "0" "00491" "00491" "2007-11-15 11:14:16" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106691" "00106222" "0" "00491" "00491" "2007-11-15 11:17:30" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106692" "00106223" "1" "00491" "00491" "2007-11-15 11:26:47" "00491" "2017-07-06 13:08:35" "SEQ" "DNA" "" ""
"0000106693" "00106224" "0" "00491" "00491" "2007-11-15 11:30:01" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106694" "00106225" "0" "00491" "00491" "2007-11-15 11:32:32" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106695" "00106226" "0" "00491" "00491" "2007-11-15 12:18:41" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106696" "00106227" "0" "00483" "00483" "2007-11-15 12:22:07" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106697" "00106228" "0" "00491" "00491" "2007-11-15 12:28:01" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106698" "00106229" "0" "00491" "00491" "2007-11-15 12:31:07" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106699" "00106230" "0" "00491" "00491" "2007-11-15 12:34:53" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106700" "00106231" "0" "00491" "00491" "2007-11-15 12:37:53" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106701" "00106232" "0" "00491" "00491" "2007-11-15 12:48:19" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106702" "00106233" "0" "00483" "00483" "2007-11-15 12:52:30" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106703" "00106234" "0" "00491" "00491" "2007-11-15 13:00:04" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106704" "00106235" "0" "00491" "00491" "2007-11-15 13:05:23" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106705" "00106236" "0" "00491" "00491" "2007-11-15 13:11:26" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106706" "00106237" "0" "00491" "00491" "2007-11-15 13:17:31" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106707" "00106238" "0" "00491" "00491" "2007-11-15 13:23:17" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106708" "00106239" "0" "00491" "00491" "2007-11-15 13:25:44" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106709" "00106240" "0" "00491" "00491" "2007-11-15 13:30:13" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106710" "00106241" "0" "00491" "00491" "2007-11-15 13:34:55" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106711" "00106242" "0" "00491" "00491" "2007-11-15 14:04:25" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106712" "00106243" "0" "00491" "00491" "2007-11-15 14:07:24" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106713" "00106244" "0" "00491" "00491" "2007-11-15 14:10:10" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106714" "00106245" "0" "00491" "00491" "2007-11-15 14:11:40" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106715" "00106246" "0" "00491" "00491" "2007-11-15 14:14:46" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106716" "00106247" "0" "00491" "00491" "2007-11-15 14:17:10" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106717" "00106248" "0" "00483" "00483" "2007-11-15 14:19:04" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106718" "00106249" "0" "00491" "00491" "2007-11-15 14:22:40" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106719" "00106250" "0" "00491" "00491" "2007-11-15 14:27:09" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106720" "00106251" "0" "00491" "00491" "2007-11-15 14:30:41" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106721" "00106252" "0" "00491" "00491" "2007-11-15 14:36:43" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106722" "00106253" "0" "00483" "00483" "2007-11-15 14:41:18" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106723" "00106254" "0" "00491" "00491" "2007-11-15 14:45:14" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106724" "00106255" "0" "00491" "00491" "2007-11-15 15:13:57" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106725" "00106256" "0" "00483" "00483" "2007-11-15 15:17:00" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106726" "00106257" "0" "00491" "00491" "2007-11-15 15:22:25" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106727" "00106258" "0" "00491" "00491" "2007-11-15 15:25:44" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106728" "00106259" "0" "00491" "00491" "2007-11-15 15:29:11" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106729" "00106260" "0" "00491" "00491" "2007-11-16 07:22:15" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106730" "00106261" "0" "00491" "00491" "2007-11-16 07:24:39" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106731" "00106262" "0" "00491" "00491" "2007-11-16 07:27:01" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106732" "00106263" "0" "00491" "00491" "2007-11-16 07:30:32" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106733" "00106264" "0" "00491" "00491" "2007-11-16 07:33:18" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106734" "00106265" "0" "00483" "00483" "2007-11-16 07:35:48" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106735" "00106266" "0" "00491" "00491" "2007-11-16 07:37:47" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106736" "00106267" "0" "00491" "00491" "2007-11-16 07:40:51" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106737" "00106268" "0" "00491" "00491" "2007-11-16 07:43:59" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106738" "00106269" "0" "00491" "00491" "2007-11-16 07:46:11" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106739" "00106270" "0" "00491" "00491" "2007-11-16 09:01:29" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106740" "00106271" "0" "00491" "00491" "2007-11-16 09:05:20" "00006" "2012-03-04 15:55:43" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000106741" "00106272" "0" "00491" "00491" "2007-11-16 09:10:59" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106742" "00106273" "0" "00491" "00491" "2007-11-16 09:13:58" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106743" "00106274" "0" "00491" "00491" "2007-11-16 09:19:19" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106744" "00106275" "0" "00483" "00483" "2007-11-16 09:24:45" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106745" "00106276" "0" "00491" "00491" "2007-11-16 09:37:16" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106746" "00106277" "0" "00491" "00491" "2007-11-16 09:40:59" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106747" "00106278" "0" "00491" "00491" "2007-11-16 10:09:23" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106748" "00106279" "0" "00491" "00491" "2007-11-16 10:12:10" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106749" "00106280" "0" "00491" "00491" "2007-11-16 10:18:33" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106750" "00106281" "0" "00483" "00483" "2007-11-16 10:20:50" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106751" "00106282" "0" "00491" "00491" "2007-11-16 10:23:56" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106752" "00106283" "0" "00491" "00491" "2007-11-16 10:32:12" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106753" "00106284" "0" "00491" "00491" "2007-11-16 10:35:00" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106754" "00106285" "0" "00491" "00491" "2007-11-16 10:42:17" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106755" "00106286" "0" "00491" "00491" "2007-11-16 10:46:12" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106756" "00106287" "0" "00483" "00483" "2007-11-16 11:09:49" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106757" "00106288" "0" "00483" "00483" "2007-11-16 13:00:12" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106758" "00106289" "0" "00491" "00491" "2007-11-16 13:05:47" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106759" "00106290" "0" "00491" "00491" "2007-11-16 13:10:20" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106760" "00106291" "0" "00483" "00483" "2007-11-16 13:32:20" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106761" "00106292" "0" "00491" "00491" "2007-11-16 13:37:16" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106762" "00106293" "0" "00491" "00491" "2007-11-16 13:40:28" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106763" "00106294" "0" "00491" "00491" "2007-11-16 13:43:20" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106764" "00106295" "0" "00491" "00491" "2007-11-16 13:46:45" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106765" "00106296" "0" "00491" "00491" "2007-11-16 13:51:16" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106766" "00106297" "0" "00491" "00491" "2007-11-16 13:54:04" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106767" "00106298" "0" "00491" "00491" "2007-11-16 13:59:58" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106768" "00106299" "0" "00491" "00491" "2007-11-16 14:18:21" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106769" "00106300" "0" "00483" "00483" "2007-11-16 14:23:22" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106770" "00106301" "0" "00491" "00491" "2007-11-16 14:26:21" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106771" "00106302" "0" "00491" "00491" "2007-11-16 14:28:28" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106772" "00106303" "0" "00491" "00491" "2007-11-16 14:39:23" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106773" "00106304" "0" "00491" "00491" "2007-11-16 14:44:00" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106774" "00106305" "0" "00491" "00491" "2007-11-16 14:47:08" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106775" "00106306" "0" "00491" "00491" "2007-11-16 14:49:47" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106776" "00106307" "0" "00483" "00483" "2007-11-16 14:53:31" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106777" "00106308" "0" "00491" "00491" "2007-11-16 14:55:38" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106778" "00106309" "0" "00483" "00483" "2007-11-16 14:59:39" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106779" "00106310" "0" "00491" "00491" "2007-11-16 15:02:27" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106780" "00106311" "0" "00491" "00491" "2007-11-16 15:07:16" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106781" "00106312" "0" "00483" "00483" "2007-11-16 15:27:27" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106782" "00106313" "0" "00491" "00491" "2007-11-16 15:30:35" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106783" "00106314" "0" "00491" "00491" "2007-11-16 15:34:49" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106784" "00106315" "0" "00491" "00491" "2007-11-19 08:37:05" "00006" "2014-01-11 19:10:33" "SEQ" "DNA" "" ""
"0000106785" "00106316" "0" "00491" "00491" "2007-11-19 08:39:12" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106786" "00106317" "0" "00491" "00491" "2007-11-19 08:43:09" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106787" "00106318" "0" "00491" "00491" "2007-11-19 08:47:12" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106788" "00106319" "0" "00491" "00491" "2007-11-19 08:51:38" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106789" "00106320" "0" "00483" "00483" "2007-11-19 16:20:15" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106790" "00106321" "0" "00491" "00491" "2007-11-19 16:23:15" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106791" "00106322" "0" "00491" "00491" "2007-11-19 16:26:10" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106792" "00106323" "0" "00491" "00491" "2007-11-19 16:28:11" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106793" "00106324" "0" "00491" "00491" "2007-11-19 16:31:49" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106794" "00106325" "0" "00491" "00491" "2007-11-19 16:34:19" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106795" "00106326" "0" "00491" "00491" "2007-11-19 16:38:59" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106796" "00106327" "0" "00491" "00491" "2007-11-19 16:41:23" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106797" "00106328" "0" "00491" "00491" "2007-11-19 16:44:06" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106798" "00106329" "0" "00491" "00491" "2007-11-19 16:46:29" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106799" "00106330" "0" "00491" "00491" "2007-11-19 16:50:31" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106800" "00106331" "0" "00483" "00483" "2007-11-19 16:52:46" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106801" "00106332" "0" "00491" "00491" "2007-11-19 16:55:31" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106802" "00106333" "0" "00491" "00491" "2007-11-19 16:57:51" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106803" "00106334" "0" "00491" "00491" "2007-11-19 17:00:35" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106804" "00106335" "0" "00491" "00491" "2007-11-19 17:06:24" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106805" "00106336" "0" "00491" "00491" "2007-11-19 17:11:39" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106806" "00106337" "0" "00491" "00491" "2007-11-19 17:14:05" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106807" "00106338" "0" "00491" "00491" "2007-11-19 17:20:14" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106808" "00106339" "0" "00491" "00491" "2007-11-20 09:03:37" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106809" "00106340" "0" "00491" "00491" "2007-11-20 09:07:36" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106810" "00106341" "0" "00491" "00491" "2007-11-20 09:22:41" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106811" "00106342" "0" "00491" "00491" "2007-11-20 09:57:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106812" "00106343" "0" "00491" "00491" "2007-11-20 10:00:17" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106813" "00106344" "0" "00491" "00491" "2007-11-20 10:01:37" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106814" "00106345" "0" "00491" "00491" "2007-11-20 10:42:55" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106815" "00106346" "0" "00491" "00491" "2007-11-20 10:47:01" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106816" "00106347" "0" "00491" "00491" "2007-11-20 10:53:02" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106817" "00106348" "0" "00491" "00491" "2007-11-20 10:54:47" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106818" "00106349" "0" "00491" "00491" "2007-11-20 10:56:16" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106819" "00106350" "0" "00491" "00491" "2007-11-20 11:41:52" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106820" "00106351" "0" "00491" "00491" "2007-11-20 11:47:45" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106821" "00106352" "0" "00491" "00491" "2007-11-20 11:51:52" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106822" "00106353" "0" "00483" "00483" "2007-11-20 15:41:09" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000106823" "00106354" "0" "00491" "00491" "2007-11-21 12:07:21" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106824" "00106355" "0" "00491" "00491" "2007-11-21 13:12:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106825" "00106356" "0" "00491" "00491" "2007-12-12 12:36:25" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106826" "00106357" "0" "00491" "00491" "2008-02-08 16:44:09" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106827" "00106358" "0" "00491" "00491" "2008-05-14 15:59:00" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106828" "00106359" "0" "00491" "00491" "2008-05-16 11:27:29" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106829" "00106360" "0" "00491" "00491" "2008-05-16 11:31:10" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106830" "00106361" "0" "00491" "00491" "2008-05-16 11:33:38" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106831" "00106362" "0" "00491" "00491" "2008-05-16 11:40:04" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106832" "00106363" "0" "00491" "00491" "2008-05-16 11:41:51" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106833" "00106364" "0" "00491" "00491" "2008-05-16 11:47:42" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106834" "00106365" "0" "00491" "00491" "2008-05-16 11:49:29" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106835" "00106366" "0" "00491" "00491" "2008-05-16 11:51:39" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106836" "00106367" "0" "00491" "00491" "2008-05-16 11:56:06" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106837" "00106368" "0" "00491" "00491" "2008-05-16 12:06:42" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106838" "00106369" "0" "00491" "00491" "2008-05-16 12:12:27" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106839" "00106370" "0" "00491" "00491" "2008-05-16 12:14:22" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106840" "00106371" "0" "00491" "00491" "2008-05-16 12:18:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106841" "00106372" "0" "00491" "00491" "2008-05-16 12:22:53" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106842" "00106373" "0" "00491" "00491" "2008-05-16 12:30:11" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106843" "00106374" "0" "00491" "00491" "2008-05-16 12:32:12" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106844" "00106375" "0" "00491" "00491" "2008-05-16 12:34:28" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106845" "00106376" "0" "00491" "00491" "2008-05-16 12:36:40" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106846" "00106377" "0" "00491" "00491" "2008-05-16 12:38:42" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106847" "00106378" "0" "00491" "00491" "2008-05-16 12:42:08" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106848" "00106379" "0" "00491" "00491" "2008-05-16 12:44:49" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106849" "00106380" "0" "00491" "00491" "2008-05-16 13:18:04" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106850" "00106381" "0" "00491" "00491" "2008-05-16 13:25:31" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106851" "00106382" "0" "00491" "00491" "2008-05-16 13:27:08" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106852" "00106383" "0" "00491" "00491" "2008-05-16 13:29:28" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106853" "00106384" "0" "00491" "00491" "2008-05-16 13:32:25" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106854" "00106385" "0" "00491" "00491" "2008-05-16 13:34:56" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106855" "00106386" "0" "00491" "00491" "2008-05-16 13:41:59" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106856" "00106387" "0" "00491" "00491" "2008-05-16 13:43:37" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106857" "00106388" "0" "00491" "00491" "2008-05-16 13:44:55" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106858" "00106389" "0" "00491" "00491" "2008-05-16 13:46:24" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106859" "00106390" "0" "00491" "00491" "2008-05-16 13:48:19" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106860" "00106391" "0" "00491" "00491" "2008-05-16 13:49:42" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106861" "00106392" "0" "00491" "00491" "2008-05-16 13:50:59" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106862" "00106393" "0" "00491" "00491" "2008-05-16 13:52:26" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106863" "00106394" "0" "00491" "00491" "2008-05-16 13:53:49" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106864" "00106395" "0" "00491" "00491" "2008-05-16 13:55:06" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106865" "00106396" "0" "00491" "00491" "2008-05-16 14:07:47" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106866" "00106397" "0" "00491" "00491" "2008-05-16 14:09:24" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106867" "00106398" "0" "00491" "00491" "2008-05-16 14:25:44" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106868" "00106399" "0" "00491" "00491" "2008-05-16 14:28:33" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106869" "00106400" "0" "00491" "00491" "2008-05-16 14:30:36" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106870" "00106401" "0" "00491" "00491" "2008-05-16 14:31:53" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106871" "00106402" "0" "00491" "00491" "2008-05-16 14:33:33" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106872" "00106403" "0" "00491" "00491" "2008-05-16 14:35:16" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106873" "00106404" "0" "00491" "00491" "2008-05-18 13:28:17" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106874" "00106405" "0" "00491" "00491" "2008-06-11 09:27:45" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106875" "00106406" "0" "00491" "00491" "2008-06-11 10:13:50" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106876" "00106407" "0" "00491" "00491" "2008-06-11 10:15:51" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106877" "00106408" "0" "00491" "00491" "2008-06-11 10:21:09" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106878" "00106409" "0" "00491" "00491" "2008-06-12 09:03:30" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106879" "00106410" "0" "00491" "00491" "2008-07-05 11:51:16" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106880" "00106411" "0" "00491" "00491" "2008-09-05 17:58:44" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106881" "00106412" "0" "00491" "00491" "2008-09-05 18:03:07" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106882" "00106413" "0" "00491" "00491" "2008-09-05 18:11:56" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106883" "00106414" "0" "00491" "00491" "2008-10-07 21:45:26" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106884" "00106415" "0" "00491" "00491" "2008-12-11 15:18:44" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106885" "00106416" "0" "00491" "00491" "2008-12-12 10:36:06" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106886" "00106417" "0" "00491" "00491" "2008-12-12 10:50:57" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106887" "00106418" "0" "00491" "00491" "2008-12-12 11:05:53" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106888" "00106419" "0" "00491" "00491" "2008-12-12 11:42:09" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106889" "00106420" "0" "00491" "00491" "2008-12-14 15:11:43" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106890" "00106421" "0" "00491" "00491" "2008-12-14 15:19:30" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106891" "00106422" "0" "00491" "00491" "2009-01-07 08:17:40" "00491" "2015-01-16 11:12:31" "SEQ" "DNA" "" ""
"0000106892" "00106423" "0" "00464" "00464" "2009-01-21 05:30:22" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106893" "00106424" "0" "00464" "00464" "2009-01-21 05:33:58" "00006" "2012-03-04 15:55:43" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000106894" "00106425" "0" "00464" "00464" "2009-01-21 05:39:42" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106895" "00106426" "0" "00491" "00491" "2009-01-29 22:01:14" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106896" "00106427" "0" "00491" "00491" "2009-01-29 22:22:19" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106897" "00106428" "0" "00491" "00491" "2009-01-29 22:55:22" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106898" "00106429" "0" "00491" "00491" "2009-07-11 11:36:48" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106899" "00106430" "0" "00491" "00491" "2009-07-27 16:17:05" "00006" "2012-03-04 16:12:57" "SEQ" "DNA" "" ""
"0000106900" "00106431" "0" "00491" "00491" "2009-07-27 16:21:47" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106901" "00106432" "0" "00464" "00464" "2009-07-30 01:45:36" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106902" "00106433" "0" "00464" "00464" "2009-08-27 04:45:56" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106903" "00106434" "0" "00464" "00464" "2009-09-29 23:36:11" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106904" "00106435" "0" "00491" "00491" "2007-11-15 00:18:13" "00006" "2012-03-09 19:32:06" "SEQ" "DNA" "" ""
"0000106905" "00106436" "0" "00491" "00491" "2007-11-15 00:53:02" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106906" "00106437" "0" "00491" "00491" "2007-11-15 00:53:02" "00006" "2012-03-04 15:55:43" "SEQ" "DNA" "" ""
"0000106907" "00106438" "0" "00006" "00006" "2010-04-10 20:07:13" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" ""
"0000106908" "00106439" "0" "00464" "00464" "2011-04-25 18:45:45" "00006" "2012-03-09 19:12:55" "PCR;SEQ" "DNA" "" ""
"0000106909" "00106440" "0" "00491" "00491" "2011-04-28 09:36:13" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106910" "00106441" "0" "01951" "01951" "2011-04-29 08:03:08" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106911" "00106442" "0" "01951" "01951" "2011-04-29 08:12:12" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000106912" "00106443" "0" "00491" "00491" "2011-08-11 09:24:46" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106913" "00106444" "0" "00464" "00464" "2011-09-02 21:04:17" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106914" "00106445" "0" "00464" "00464" "2011-09-02 21:07:00" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106915" "00106446" "0" "00464" "00464" "2011-09-19 18:18:13" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106916" "00106447" "0" "00464" "00464" "2011-09-19 18:59:12" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106917" "00106448" "0" "00464" "00464" "2011-10-04 17:29:56" "00006" "2012-03-09 19:12:55" "PCR;SEQ" "DNA" "" ""
"0000106918" "00106449" "0" "00491" "00491" "2011-10-12 06:32:42" "00006" "2012-03-09 19:12:55" "SEQ" "DNA" "" ""
"0000106919" "00106450" "0" "00464" "00464" "2011-11-29 17:44:22" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106920" "00106451" "0" "00464" "00464" "2011-11-29 18:05:58" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106921" "00106452" "0" "00464" "00464" "2011-12-14 21:57:48" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106922" "00106453" "0" "00464" "00464" "2012-02-07 21:29:55" "00006" "2012-03-09 19:17:22" "PCR;SEQ" "DNA" "" ""
"0000106923" "00106454" "0" "00464" "00464" "2012-02-15 17:21:13" "00006" "2012-03-09 19:12:55" "PCR;SEQ" "DNA" "" ""
"0000106924" "00106455" "0" "00464" "00464" "2012-02-17 22:49:02" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" ""
"0000106925" "00106456" "0" "00464" "00464" "2012-06-19 15:21:02" "00006" "2012-06-19 21:54:08" "PCR;SEQ" "DNA" "" ""
"0000106926" "00106457" "0" "00464" "00464" "2012-07-23 22:11:58" "" "" "PCR;SEQ" "DNA" "" ""
"0000106927" "00106458" "0" "00464" "00464" "2012-07-24 19:26:42" "" "" "PCR;SEQ" "DNA" "" ""
"0000106928" "00106459" "0" "00490" "00490" "2012-08-03 11:26:45" "" "" "SEQ" "DNA" "" ""
"0000106929" "00106460" "0" "00464" "00464" "2012-09-14 20:28:29" "00006" "2012-09-20 07:29:43" "PCR;SEQ" "DNA" "" ""
"0000106930" "00106461" "0" "00526" "00526" "2012-09-18 11:09:45" "" "" "SEQ" "DNA" "" ""
"0000106931" "00106462" "0" "00526" "00526" "2012-09-18 11:18:03" "" "" "SEQ" "DNA" "" ""
"0000106932" "00106463" "0" "00526" "00526" "2012-09-18 11:22:07" "" "" "SEQ" "DNA" "" ""
"0000106933" "00106464" "0" "00526" "00526" "2012-09-18 11:57:27" "" "" "SEQ" "DNA" "" ""
"0000106934" "00106465" "0" "00526" "00526" "2012-09-18 12:11:06" "" "" "SEQ" "DNA" "" ""
"0000106935" "00106466" "0" "00526" "00526" "2012-09-18 12:15:34" "00491" "2012-09-19 11:51:09" "SEQ" "DNA" "" ""
"0000106936" "00106467" "0" "00526" "00526" "2012-09-18 12:23:52" "00006" "2013-01-31 21:38:00" "SEQ" "DNA" "" ""
"0000106937" "00106468" "0" "00430" "00430" "2012-10-22 10:56:19" "" "" "SEQ" "DNA" "" ""
"0000106938" "00106469" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:28:19" "SEQ" "DNA" "" ""
"0000106939" "00106470" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:24:19" "SEQ" "DNA" "" ""
"0000106940" "00106471" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:21:42" "SEQ" "DNA" "" ""
"0000106941" "00106472" "0" "00430" "00430" "2012-10-22 10:56:19" "" "" "SEQ" "DNA" "" ""
"0000106942" "00106473" "0" "00430" "00430" "2012-10-22 10:56:19" "00491" "2015-07-09 08:57:53" "SEQ" "DNA" "" ""
"0000106943" "00106474" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:17:41" "SEQ" "DNA" "" ""
"0000106944" "00106475" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:30:57" "SEQ" "DNA" "" ""
"0000106945" "00106476" "1" "00430" "00430" "2012-10-22 10:56:19" "00491" "2019-03-13 01:13:30" "SEQ" "DNA" "" ""
"0000106946" "00106477" "0" "00430" "00430" "2012-10-22 10:56:19" "" "" "SEQ" "DNA" "" ""
"0000106947" "00106478" "0" "00430" "00430" "2012-10-22 10:56:19" "" "" "SEQ" "DNA" "" ""
"0000106948" "00106479" "0" "00490" "00490" "2012-12-12 18:31:58" "00006" "2012-12-28 14:55:18" "SEQ" "DNA" "" ""
"0000106949" "00106480" "0" "00526" "00526" "2013-01-31 17:43:45" "00006" "2013-01-31 21:33:36" "SEQ" "DNA" "" ""
"0000106950" "00106481" "0" "00464" "00464" "2013-04-25 20:52:03" "" "" "PCR;SEQ" "DNA" "" ""
"0000106951" "00106482" "0" "00464" "00464" "2013-06-28 23:13:33" "00006" "2013-06-29 21:08:47" "PCR;SEQ" "DNA" "" ""
"0000106952" "00106483" "0" "00540" "00540" "2013-07-24 12:13:17" "00006" "2013-09-27 18:53:14" "SEQ" "DNA" "" ""
"0000106953" "00106484" "0" "00464" "00464" "2013-10-31 15:10:44" "00006" "2013-11-01 17:26:55" "PCR;SEQ" "DNA" "" ""
"0000106954" "00106485" "0" "01973" "01973" "2013-11-04 13:00:09" "00006" "2013-11-22 16:57:44" "SEQ;SEQ-NG" "DNA" "" ""
"0000106955" "00106486" "0" "00491" "00491" "2014-01-11 05:28:59" "00006" "2014-01-11 19:09:18" "SEQ" "DNA" "" ""
"0000106956" "00106487" "0" "00491" "00491" "2014-01-11 08:50:11" "00006" "2014-01-11 19:11:57" "SEQ" "DNA" "" ""
"0000106957" "00106488" "0" "00491" "00491" "2014-01-11 09:17:42" "00006" "2014-01-11 19:14:20" "SEQ" "DNA" "" ""
"0000106958" "00106489" "0" "00491" "00491" "2014-01-11 09:44:15" "00491" "2014-04-19 07:31:13" "SEQ" "DNA" "" ""
"0000106959" "00106490" "0" "00491" "00491" "2014-01-11 10:05:14" "00006" "2014-01-11 19:17:21" "SEQ" "DNA" "" ""
"0000106960" "00106491" "0" "00491" "00491" "2014-04-19 08:12:04" "00006" "2014-04-21 15:06:56" "SEQ" "DNA" "" ""
"0000106961" "00106492" "0" "00491" "00491" "2014-04-19 08:40:25" "00006" "2014-04-21 15:08:23" "SEQ" "DNA" "" ""
"0000106962" "00106493" "0" "00464" "00464" "2014-09-24 19:56:35" "00006" "2014-09-28 10:47:59" "SEQ-NG" "DNA" "" ""
"0000106963" "00106494" "0" "00464" "00464" "2014-09-26 21:35:25" "00006" "2014-09-28 10:49:26" "SEQ-NG" "DNA" "" ""
"0000106964" "00106495" "0" "00491" "00491" "2015-01-09 01:59:00" "00491" "2015-01-09 02:05:07" "PCR" "DNA" "" ""
"0000106965" "00106496" "0" "00491" "00491" "2015-01-09 03:07:58" "00491" "2015-01-09 03:18:17" "PCR" "DNA" "" ""
"0000106966" "00106497" "0" "00491" "00491" "2015-01-09 04:41:39" "" "" "SEQ-NG" "DNA" "" ""
"0000106967" "00106498" "0" "00491" "00491" "2015-01-09 05:10:58" "" "" "SEQ-NG" "DNA" "" ""
"0000106968" "00106499" "0" "00491" "00491" "2015-01-09 10:07:47" "" "" "PCRq" "DNA" "" ""
"0000106969" "00106500" "0" "00491" "00491" "2015-01-11 02:38:03" "" "" "PCR" "DNA" "" ""
"0000106970" "00106501" "0" "00491" "00491" "2015-01-11 03:33:29" "" "" "SEQ" "DNA" "" ""
"0000106971" "00106502" "0" "00491" "00491" "2015-01-11 05:09:12" "" "" "PCR" "DNA" "" ""
"0000106972" "00106503" "0" "00491" "00491" "2015-01-11 05:52:44" "" "" "PCR" "DNA" "" ""
"0000106973" "00106504" "0" "00491" "00491" "2015-01-11 06:25:24" "00491" "2015-05-21 06:31:23" "SEQ" "DNA" "" ""
"0000106974" "00106505" "0" "00491" "00491" "2015-07-12 07:22:45" "00491" "2015-07-12 07:24:42" "?" "DNA" "" ""
"0000106975" "00106506" "0" "00491" "00491" "2015-07-12 07:39:45" "" "" "?" "DNA" "" ""
"0000106976" "00106507" "0" "00491" "00491" "2015-08-15 09:48:01" "" "" "?" "DNA" "" ""
"0000106977" "00106508" "0" "00491" "00491" "2015-08-15 10:20:12" "00491" "2015-08-15 12:45:40" "?" "DNA" "" ""
"0000106978" "00106509" "0" "00491" "00491" "2015-08-15 12:28:39" "00491" "2015-08-15 12:30:07" "SEQ" "DNA" "" ""
"0000106979" "00106510" "0" "00491" "00491" "2015-08-16 15:31:05" "" "" "?" "DNA" "" ""
"0000106980" "00106511" "0" "00491" "00491" "2015-08-16 15:53:53" "" "" "SEQ" "DNA" "" ""
"0000106997" "00106528" "1" "00491" "00491" "2017-07-03 09:19:53" "" "" "?" "DNA" "" ""
"0000106998" "00106529" "1" "00491" "00491" "2017-07-03 10:42:18" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000106999" "00106530" "1" "00491" "00491" "2017-07-03 11:05:16" "" "" "?" "DNA" "" ""
"0000107001" "00106532" "1" "00491" "00491" "2017-07-04 15:38:21" "" "" "SEQ-NG-IT" "DNA" "" "gene panel"
"0000107002" "00106533" "1" "00491" "00491" "2017-07-04 16:08:15" "" "" "SEQ-NG-IT" "DNA" "" ""
"0000107003" "00106534" "1" "00491" "00491" "2017-07-04 16:24:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000107126" "00106655" "1" "00491" "00491" "2017-07-07 11:32:43" "" "" "SEQ" "DNA" "" ""
"0000107129" "00106658" "1" "00491" "00491" "2017-07-07 14:06:36" "" "" "SEQ" "DNA" "" ""
"0000107151" "00106680" "1" "00491" "00491" "2017-07-09 04:08:49" "" "" "?" "DNA" "" ""
"0000107152" "00106681" "1" "00491" "00491" "2017-07-09 04:22:17" "" "" "?" "DNA" "" ""
"0000107153" "00106682" "1" "00491" "00491" "2017-07-09 04:41:10" "" "" "?" "DNA" "" ""
"0000107154" "00106683" "1" "00491" "00491" "2017-07-09 05:28:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000107155" "00106684" "1" "00491" "00491" "2017-07-09 05:51:38" "" "" "SEQ-NG-I" "DNA" "" ""
"0000107156" "00106685" "1" "00491" "00491" "2017-07-10 03:18:25" "" "" "SEQ-NG-I" "DNA" "" "Screened a panel of 579 genes"
"0000107157" "00106686" "1" "00491" "00491" "2017-07-10 03:36:07" "" "" "SEQ-NG-I" "DNA" "" "Screened a panel of 579 genes"
"0000107210" "00106739" "1" "00491" "00491" "2017-07-11 09:50:41" "" "" "SEQ-NG-I" "DNA" "" "Targeted panel of 42 known disease genes"
"0000107211" "00106740" "1" "00491" "00491" "2017-07-11 10:19:01" "" "" "SEQ-NG-I" "DNA" "" "Targeted panel of 42 known disease genes"
"0000107212" "00106741" "1" "00491" "00491" "2017-07-11 10:35:01" "" "" "SEQ-NG-I" "DNA" "" "Targeted panel of 42 known disease genes"
"0000108014" "00107542" "1" "00491" "00491" "2017-07-13 04:34:32" "" "" "SEQ-NG" "DNA" "" "Targeted 19 gene congenital myopathy panel"
"0000108661" "00108193" "1" "02178" "02178" "2017-07-21 20:36:17" "" "" "SEQ-NG-I" "DNA" "blood" "gene pnel"
"0000117259" "00116799" "1" "01183" "01183" "2017-08-10 12:58:26" "" "" "PCR" "DNA" "" ""
"0000117262" "00116802" "1" "00491" "00491" "2017-08-11 10:56:05" "" "" "SEQ-NG" "DNA" "" ""
"0000144541" "00143684" "1" "00491" "00491" "2017-12-04 02:36:21" "" "" "SEQ-NG-I" "DNA" "" "gene panel of 316 known muscle disease genes"
"0000144542" "00143685" "1" "00491" "00491" "2017-12-04 02:51:17" "" "" "SEQ-NG-I" "DNA" "" "gene panel of 316 known muscle disease genes"
"0000214181" "00213106" "1" "03159" "03159" "2019-01-10 00:50:53" "" "" "SEQ-NG" "DNA" "blood" ""
"0000226718" "00225642" "1" "02588" "02588" "2019-02-21 15:34:26" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000228858" "00227770" "1" "00491" "00491" "2019-03-12 01:37:49" "" "" "SEQ" "DNA" "" ""
"0000290131" "00288963" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel;WES"
"0000290140" "00288972" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000290158" "00288990" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000296838" "00295666" "1" "01164" "01164" "2020-03-22 12:44:06" "" "" "SEQ-NG-S" "DNA" "" ""
"0000308351" "00307209" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" ""
"0000308371" "00307229" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" ""
"0000315196" "00314023" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000315197" "00314024" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000330446" "00329227" "1" "01807" "01807" "2021-02-08 10:39:01" "" "" "SEQ" "DNA" "" ""
"0000362710" "00361482" "1" "03755" "00491" "2021-04-07 16:02:23" "" "" "SEQ-NG" "DNA" "" ""
"0000362976" "00361748" "1" "03755" "03755" "2021-04-09 02:28:16" "" "" "SEQ-NG" "DNA" "" ""
"0000362977" "00361749" "1" "03755" "03755" "2021-04-09 02:52:44" "" "" "SEQ-NG" "DNA" "" "targeted congenital myopathy panel 95 genes"
"0000375837" "00374643" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000375838" "00374644" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000384278" "00383054" "1" "03755" "03755" "2021-09-21 07:55:29" "" "" "?" "DNA" "" ""
"0000389381" "00388142" "1" "03755" "03755" "2021-11-02 09:59:19" "" "" "SEQ-NG" "DNA" "" "Trio exome sequencing"
"0000400204" "00398959" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel"
"0000400205" "00398960" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel"
"0000400281" "00399036" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000400285" "00399040" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000400319" "00399074" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000402892" "00401648" "1" "04254" "04254" "2022-02-01 13:01:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000417215" "00415935" "1" "03652" "03652" "2022-08-18 20:48:26" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel (ACTA1, BIN1, CACNA1S, CCDC78, CFL2, DES, DNM2, FHL1, HRAS, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MYH2, MYH7, MYO18B, MYPN, NEB, PYROXD1, RYR1, SCN4A, SELENON, SPEG, STAC3, TNNT1, TPM2 TPM3)"
"0000420471" "00419171" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" ""
"0000420472" "00419172" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" ""
"0000420473" "00419173" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" ""
"0000420474" "00419174" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" ""
"0000420475" "00419175" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" ""
"0000429630" "00428219" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000429652" "00428241" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ" "DNA" "" ""
"0000432840" "00431424" "1" "01164" "01164" "2023-02-13 15:18:55" "" "" "SEQ-NG-I" "DNA" "" ""
"0000434825" "00433371" "1" "01164" "01164" "2023-03-06 16:06:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000437159" "00435678" "1" "00006" "00006" "2023-08-09 09:56:20" "" "" "SEQ" "DNA" "" ""
"0000438512" "00437028" "1" "00006" "00006" "2023-10-12 13:04:24" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000444113" "00442629" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000444114" "00442630" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000444264" "00442780" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
"0000455082" "00453468" "1" "01164" "01164" "2024-09-04 12:30:34" "" "" "SEQ-NG-I" "DNA" "Blood" ""
"0000461854" "00460223" "1" "00006" "00006" "2025-01-21 21:16:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 401
"{{screeningid}}" "{{geneid}}"
"0000034711" "ACTA1"
"0000034712" "ACTA1"
"0000034713" "ACTA1"
"0000034714" "ACTA1"
"0000034715" "ACTA1"
"0000034716" "ACTA1"
"0000034717" "ACTA1"
"0000034718" "ACTA1"
"0000034719" "ACTA1"
"0000034720" "ACTA1"
"0000034721" "ACTA1"
"0000054638" "ACTA1"
"0000106636" "ACTA1"
"0000106637" "ACTA1"
"0000106638" "ACTA1"
"0000106639" "ACTA1"
"0000106640" "ACTA1"
"0000106641" "ACTA1"
"0000106642" "ACTA1"
"0000106643" "ACTA1"
"0000106644" "ACTA1"
"0000106645" "ACTA1"
"0000106646" "ACTA1"
"0000106647" "ACTA1"
"0000106648" "ACTA1"
"0000106649" "ACTA1"
"0000106650" "ACTA1"
"0000106651" "ACTA1"
"0000106652" "ACTA1"
"0000106653" "ACTA1"
"0000106654" "ACTA1"
"0000106655" "ACTA1"
"0000106656" "ACTA1"
"0000106657" "ACTA1"
"0000106658" "ACTA1"
"0000106659" "ACTA1"
"0000106660" "ACTA1"
"0000106661" "ACTA1"
"0000106662" "ACTA1"
"0000106663" "ACTA1"
"0000106664" "ACTA1"
"0000106665" "ACTA1"
"0000106666" "ACTA1"
"0000106667" "ACTA1"
"0000106668" "ACTA1"
"0000106669" "ACTA1"
"0000106670" "ACTA1"
"0000106671" "ACTA1"
"0000106672" "ACTA1"
"0000106673" "ACTA1"
"0000106674" "ACTA1"
"0000106675" "ACTA1"
"0000106676" "ACTA1"
"0000106677" "ACTA1"
"0000106678" "ACTA1"
"0000106679" "ACTA1"
"0000106680" "ACTA1"
"0000106681" "ACTA1"
"0000106682" "ACTA1"
"0000106683" "ACTA1"
"0000106684" "ACTA1"
"0000106685" "ACTA1"
"0000106686" "ACTA1"
"0000106687" "ACTA1"
"0000106688" "ACTA1"
"0000106689" "ACTA1"
"0000106690" "ACTA1"
"0000106691" "ACTA1"
"0000106692" "ACTA1"
"0000106693" "ACTA1"
"0000106694" "ACTA1"
"0000106695" "ACTA1"
"0000106696" "ACTA1"
"0000106697" "ACTA1"
"0000106698" "ACTA1"
"0000106699" "ACTA1"
"0000106700" "ACTA1"
"0000106701" "ACTA1"
"0000106702" "ACTA1"
"0000106703" "ACTA1"
"0000106704" "ACTA1"
"0000106705" "ACTA1"
"0000106706" "ACTA1"
"0000106707" "ACTA1"
"0000106708" "ACTA1"
"0000106709" "ACTA1"
"0000106710" "ACTA1"
"0000106711" "ACTA1"
"0000106712" "ACTA1"
"0000106713" "ACTA1"
"0000106714" "ACTA1"
"0000106715" "ACTA1"
"0000106716" "ACTA1"
"0000106717" "ACTA1"
"0000106718" "ACTA1"
"0000106719" "ACTA1"
"0000106720" "ACTA1"
"0000106721" "ACTA1"
"0000106722" "ACTA1"
"0000106723" "ACTA1"
"0000106724" "ACTA1"
"0000106725" "ACTA1"
"0000106726" "ACTA1"
"0000106727" "ACTA1"
"0000106728" "ACTA1"
"0000106729" "ACTA1"
"0000106730" "ACTA1"
"0000106731" "ACTA1"
"0000106732" "ACTA1"
"0000106733" "ACTA1"
"0000106734" "ACTA1"
"0000106735" "ACTA1"
"0000106736" "ACTA1"
"0000106737" "ACTA1"
"0000106738" "ACTA1"
"0000106739" "ACTA1"
"0000106740" "ACTA1"
"0000106741" "ACTA1"
"0000106742" "ACTA1"
"0000106743" "ACTA1"
"0000106744" "ACTA1"
"0000106745" "ACTA1"
"0000106746" "ACTA1"
"0000106747" "ACTA1"
"0000106748" "ACTA1"
"0000106749" "ACTA1"
"0000106750" "ACTA1"
"0000106751" "ACTA1"
"0000106752" "ACTA1"
"0000106753" "ACTA1"
"0000106754" "ACTA1"
"0000106755" "ACTA1"
"0000106756" "ACTA1"
"0000106757" "ACTA1"
"0000106758" "ACTA1"
"0000106759" "ACTA1"
"0000106760" "ACTA1"
"0000106761" "ACTA1"
"0000106762" "ACTA1"
"0000106763" "ACTA1"
"0000106764" "ACTA1"
"0000106765" "ACTA1"
"0000106766" "ACTA1"
"0000106767" "ACTA1"
"0000106768" "ACTA1"
"0000106769" "ACTA1"
"0000106770" "ACTA1"
"0000106771" "ACTA1"
"0000106772" "ACTA1"
"0000106773" "ACTA1"
"0000106774" "ACTA1"
"0000106775" "ACTA1"
"0000106776" "ACTA1"
"0000106777" "ACTA1"
"0000106778" "ACTA1"
"0000106779" "ACTA1"
"0000106780" "ACTA1"
"0000106781" "ACTA1"
"0000106782" "ACTA1"
"0000106783" "ACTA1"
"0000106784" "ACTA1"
"0000106785" "ACTA1"
"0000106786" "ACTA1"
"0000106787" "ACTA1"
"0000106788" "ACTA1"
"0000106789" "ACTA1"
"0000106790" "ACTA1"
"0000106791" "ACTA1"
"0000106792" "ACTA1"
"0000106793" "ACTA1"
"0000106794" "ACTA1"
"0000106795" "ACTA1"
"0000106796" "ACTA1"
"0000106797" "ACTA1"
"0000106798" "ACTA1"
"0000106799" "ACTA1"
"0000106800" "ACTA1"
"0000106801" "ACTA1"
"0000106802" "ACTA1"
"0000106803" "ACTA1"
"0000106804" "ACTA1"
"0000106805" "ACTA1"
"0000106806" "ACTA1"
"0000106807" "ACTA1"
"0000106808" "ACTA1"
"0000106809" "ACTA1"
"0000106810" "ACTA1"
"0000106811" "ACTA1"
"0000106812" "ACTA1"
"0000106813" "ACTA1"
"0000106814" "ACTA1"
"0000106815" "ACTA1"
"0000106816" "ACTA1"
"0000106817" "ACTA1"
"0000106818" "ACTA1"
"0000106819" "ACTA1"
"0000106820" "ACTA1"
"0000106821" "ACTA1"
"0000106822" "ACTA1"
"0000106823" "ACTA1"
"0000106824" "ACTA1"
"0000106825" "ACTA1"
"0000106826" "ACTA1"
"0000106827" "ACTA1"
"0000106828" "ACTA1"
"0000106829" "ACTA1"
"0000106830" "ACTA1"
"0000106831" "ACTA1"
"0000106832" "ACTA1"
"0000106833" "ACTA1"
"0000106834" "ACTA1"
"0000106835" "ACTA1"
"0000106836" "ACTA1"
"0000106837" "ACTA1"
"0000106838" "ACTA1"
"0000106839" "ACTA1"
"0000106840" "ACTA1"
"0000106841" "ACTA1"
"0000106842" "ACTA1"
"0000106843" "ACTA1"
"0000106844" "ACTA1"
"0000106845" "ACTA1"
"0000106846" "ACTA1"
"0000106847" "ACTA1"
"0000106848" "ACTA1"
"0000106849" "ACTA1"
"0000106850" "ACTA1"
"0000106851" "ACTA1"
"0000106852" "ACTA1"
"0000106853" "ACTA1"
"0000106854" "ACTA1"
"0000106855" "ACTA1"
"0000106856" "ACTA1"
"0000106857" "ACTA1"
"0000106858" "ACTA1"
"0000106859" "ACTA1"
"0000106860" "ACTA1"
"0000106861" "ACTA1"
"0000106862" "ACTA1"
"0000106863" "ACTA1"
"0000106864" "ACTA1"
"0000106865" "ACTA1"
"0000106866" "ACTA1"
"0000106867" "ACTA1"
"0000106868" "ACTA1"
"0000106869" "ACTA1"
"0000106870" "ACTA1"
"0000106871" "ACTA1"
"0000106872" "ACTA1"
"0000106873" "ACTA1"
"0000106874" "ACTA1"
"0000106875" "ACTA1"
"0000106876" "ACTA1"
"0000106877" "ACTA1"
"0000106878" "ACTA1"
"0000106879" "ACTA1"
"0000106880" "ACTA1"
"0000106881" "ACTA1"
"0000106882" "ACTA1"
"0000106883" "ACTA1"
"0000106884" "ACTA1"
"0000106885" "ACTA1"
"0000106886" "ACTA1"
"0000106887" "ACTA1"
"0000106888" "ACTA1"
"0000106889" "ACTA1"
"0000106890" "ACTA1"
"0000106891" "ACTA1"
"0000106892" "ACTA1"
"0000106893" "ACTA1"
"0000106894" "ACTA1"
"0000106895" "ACTA1"
"0000106896" "ACTA1"
"0000106897" "ACTA1"
"0000106898" "ACTA1"
"0000106899" "ACTA1"
"0000106900" "ACTA1"
"0000106901" "ACTA1"
"0000106902" "ACTA1"
"0000106903" "ACTA1"
"0000106904" "ACTA1"
"0000106905" "ACTA1"
"0000106906" "ACTA1"
"0000106907" "ACTA1"
"0000106908" "ACTA1"
"0000106909" "ACTA1"
"0000106910" "ACTA1"
"0000106911" "ACTA1"
"0000106912" "ACTA1"
"0000106913" "ACTA1"
"0000106914" "ACTA1"
"0000106915" "ACTA1"
"0000106916" "ACTA1"
"0000106917" "ACTA1"
"0000106918" "ACTA1"
"0000106919" "ACTA1"
"0000106920" "ACTA1"
"0000106921" "ACTA1"
"0000106922" "ACTA1"
"0000106923" "ACTA1"
"0000106924" "ACTA1"
"0000106925" "ACTA1"
"0000106926" "ACTA1"
"0000106927" "ACTA1"
"0000106928" "ACTA1"
"0000106929" "ACTA1"
"0000106930" "ACTA1"
"0000106931" "ACTA1"
"0000106932" "ACTA1"
"0000106933" "ACTA1"
"0000106934" "ACTA1"
"0000106935" "ACTA1"
"0000106936" "ACTA1"
"0000106937" "ACTA1"
"0000106938" "ACTA1"
"0000106939" "ACTA1"
"0000106940" "ACTA1"
"0000106941" "ACTA1"
"0000106942" "ACTA1"
"0000106943" "ACTA1"
"0000106944" "ACTA1"
"0000106945" "ACTA1"
"0000106946" "ACTA1"
"0000106947" "ACTA1"
"0000106948" "ACTA1"
"0000106949" "ACTA1"
"0000106950" "ACTA1"
"0000106951" "ACTA1"
"0000106952" "ACTA1"
"0000106953" "ACTA1"
"0000106954" "ACTA1"
"0000106955" "ACTA1"
"0000106956" "ACTA1"
"0000106957" "ACTA1"
"0000106958" "ACTA1"
"0000106959" "ACTA1"
"0000106960" "ACTA1"
"0000106961" "ACTA1"
"0000106962" "ACTA1"
"0000106963" "ACTA1"
"0000106964" "ACTA1"
"0000106965" "ACTA1"
"0000106966" "ACTA1"
"0000106967" "ACTA1"
"0000106968" "ACTA1"
"0000106969" "ACTA1"
"0000106970" "ACTA1"
"0000106971" "ACTA1"
"0000106972" "ACTA1"
"0000106973" "ACTA1"
"0000106974" "ACTA1"
"0000106975" "ACTA1"
"0000106976" "ACTA1"
"0000106977" "ACTA1"
"0000106978" "ACTA1"
"0000106979" "ACTA1"
"0000106980" "ACTA1"
"0000106997" "ACTA1"
"0000106998" "ACTA1"
"0000106999" "ACTA1"
"0000107001" "ACTA1"
"0000107002" "ACTA1"
"0000107003" "ACTA1"
"0000107126" "ACTA1"
"0000107129" "ACTA1"
"0000107151" "ACTA1"
"0000107152" "ACTA1"
"0000107153" "ACTA1"
"0000107154" "ACTA1"
"0000107155" "ACTA1"
"0000107156" "ACTA1"
"0000107157" "ACTA1"
"0000107210" "ACTA1"
"0000107211" "ACTA1"
"0000107212" "ACTA1"
"0000108661" "ACTA1"
"0000117259" "ACTA1"
"0000117262" "ACTA1"
"0000214181" "ACTA1"
"0000226718" "ACTA1"
"0000228858" "ACTA1"
"0000290131" "ACTA1"
"0000290140" "ACTA1"
"0000290158" "ACTA1"
"0000308351" "ACTA1"
"0000308371" "ACTA1"
"0000315196" "ACTA1"
"0000315197" "ACTA1"
"0000375837" "ACTA1"
"0000375838" "ACTA1"
"0000384278" "ACTA1"
"0000417215" "ACTA1"
"0000420471" "ACTA1"
"0000420472" "ACTA1"
"0000420473" "ACTA1"
"0000420474" "ACTA1"
"0000420475" "ACTA1"
"0000432840" "ACTA1"
"0000434825" "ACTA1"
"0000437159" "ACTA1"
"0000455082" "ACTA1"
## 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 = 485
"{{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}}"
"0000061830" "1" "90" "1" "229567260" "229567260" "subst" "0" "01164" "ACTA1_000131" "g.229567260G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431513G>A" "" "pathogenic" ""
"0000061831" "1" "10" "1" "229568637" "229568637" "subst" "0.188242" "01164" "ACTA1_000150" "g.229568637C>G" "" "" "" "" "" "Germline" "" "rs4127148" "0" "" "" "g.229432890C>G" "" "benign" ""
"0000061832" "1" "10" "1" "229568632" "229568632" "subst" "0.207492" "01164" "ACTA1_000151" "g.229568632A>G" "" "" "" "" "" "Germline" "" "rs11803533" "0" "" "" "g.229432885A>G" "" "benign" ""
"0000061833" "1" "10" "1" "229568268" "229568273" "dup" "0" "01164" "ACTA1_000276" "g.229568268_229568273dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432521_229432526dup" "" "benign" ""
"0000061834" "1" "10" "1" "229568231" "229568231" "subst" "0" "01164" "ACTA1_000193" "g.229568231T>G" "" "" "" "" "" "Germline" "" "rs527621" "0" "" "" "g.229432484T>G" "" "benign" ""
"0000061835" "1" "50" "1" "229568942" "229568942" "del" "0" "01164" "ACTA1_000279" "g.229568942del" "" "" "" "" "" "Germline" "" "rs6667660" "0" "" "" "g.229433195del" "" "VUS" ""
"0000061836" "1" "50" "1" "229567662" "229567662" "dup" "0" "01164" "ACTA1_000214" "g.229567662dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431915dup" "" "VUS" ""
"0000061837" "1" "10" "1" "229567663" "229567663" "subst" "0.19494" "01164" "ACTA1_000155" "g.229567663C>G" "" "" "" "" "" "Germline" "" "rs6673359" "0" "" "" "g.229431916C>G" "" "benign" ""
"0000061838" "1" "10" "1" "229567684" "229567684" "del" "0" "01164" "ACTA1_000274" "g.229567684del" "" "" "" "" "" "Germline" "" "rs59228224" "0" "" "" "g.229431937del" "" "benign" ""
"0000061839" "1" "10" "1" "229569803" "229569803" "subst" "0" "01164" "ACTA1_000270" "g.229569803A>G" "" "" "" "" "" "Germline" "" "rs605430" "0" "" "" "g.229434056A>G" "" "benign" ""
"0000061840" "1" "10" "1" "229569804" "229569804" "subst" "0" "01164" "ACTA1_000271" "g.229569804G>A" "" "" "" "" "" "Germline" "" "rs78588865" "0" "" "" "g.229434057G>A" "" "benign" ""
"0000084588" "1" "90" "1" "229568140" "229568140" "subst" "0" "01399" "ACTA1_000057" "g.229568140C>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "De novo" "" "" "0" "" "" "g.229432393C>A" "" "pathogenic" ""
"0000172349" "1" "99" "1" "229568856" "229568856" "subst" "0" "00491" "ACTA1_000001" "g.229568856C>A" "" "{PMID:Kaindl et al, 2004:15520409}, {OMIM102610:0009}" "" "D1Y" "" "Germline" "" "" "0" "" "" "g.229433109C>A" "" "pathogenic" ""
"0000172350" "0" "99" "1" "229568754" "229568754" "subst" "0" "00483" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172351" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172352" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172353" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172354" "0" "99" "1" "229568847" "229568847" "subst" "0" "00491" "ACTA1_000002" "g.229568847C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433100C>T" "" "pathogenic" ""
"0000172355" "1" "99" "1" "229568814" "229568814" "subst" "0" "00491" "ACTA1_000003" "g.229568814C>G" "" "{PMID:Nowak et al, 1999:10508519}, {OMIM102610:0003}" "" "G15R" "" "De novo" "" "" "0" "" "" "g.229433067C>G" "" "pathogenic" ""
"0000172356" "0" "99" "1" "229568814" "229568814" "subst" "0" "00491" "ACTA1_000003" "g.229568814C>G" "" "{PMID:Goebel et al, 2006:16948949}, {PMID:Goebel et al, 2004:15072110}" "" "" "" "Germline" "" "" "0" "" "" "g.229433067C>G" "" "pathogenic" ""
"0000172357" "0" "99" "1" "229568784" "229568784" "subst" "0" "00491" "ACTA1_000004" "g.229568784C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229433037C>T" "" "pathogenic" ""
"0000172358" "0" "99" "1" "229568784" "229568784" "subst" "0" "00491" "ACTA1_000004" "g.229568784C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433037C>T" "" "pathogenic" ""
"0000172359" "0" "99" "1" "229568784" "229568784" "subst" "0" "00491" "ACTA1_000004" "g.229568784C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433037C>T" "" "pathogenic" ""
"0000172360" "11" "77" "1" "229568774" "229568774" "subst" "0" "00491" "ACTA1_000005" "g.229568774C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "?unaffected father carries the same mutation" "Germline" "" "" "0" "" "" "g.229433027C>T" "" "likely pathogenic" ""
"0000172361" "1" "99" "1" "229568750" "229568750" "subst" "0" "00491" "ACTA1_000007" "g.229568750C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "parents not tested" "Germline" "" "" "0" "" "" "g.229433003C>G" "" "pathogenic" ""
"0000172362" "0" "99" "1" "229568744" "229568744" "subst" "0" "00483" "ACTA1_000008" "g.229568744G>A" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432997G>A" "" "pathogenic" ""
"0000172363" "1" "99" "1" "229568744" "229568744" "subst" "0" "00491" "ACTA1_000008" "g.229568744G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432997G>A" "" "pathogenic" ""
"0000172364" "3" "99" "1" "229568742" "229568742" "subst" "0" "00491" "ACTA1_000009" "g.229568742G>A" "" "{PMID:Nowak et al, 2007:17187373}, {PMID:Sparrow et al, 2003:12921789}" "" "" "both unaffected parents heterozygous" "Germline" "" "" "0" "" "" "g.229432995G>A" "" "pathogenic" ""
"0000172365" "0" "99" "1" "229568739" "229568739" "subst" "0" "00483" "ACTA1_000010" "g.229568739G>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432992G>A" "" "pathogenic" ""
"0000172366" "0" "99" "1" "229568739" "229568739" "subst" "0" "00491" "ACTA1_000010" "g.229568739G>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432992G>A" "" "pathogenic" ""
"0000172367" "0" "99" "1" "229568735" "229568735" "subst" "0" "00491" "ACTA1_000011" "g.229568735T>C" "" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Graziano et al, 2004:15138616}" "" "" "" "De novo" "" "" "0" "" "" "g.229432988T>C" "" "pathogenic" ""
"0000172368" "1" "99" "1" "229568735" "229568735" "subst" "0" "00483" "ACTA1_000011" "g.229568735T>C" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432988T>C" "" "pathogenic" ""
"0000172369" "1" "99" "1" "229568626" "229568626" "subst" "0" "00491" "ACTA1_000012" "g.229568626C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432879C>A" "" "pathogenic" ""
"0000172370" "0" "99" "1" "229568624" "229568624" "subst" "0" "00491" "ACTA1_000013" "g.229568624C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432877C>A" "" "pathogenic" ""
"0000172371" "0" "99" "1" "229568620" "229568620" "subst" "0" "00491" "ACTA1_000014" "g.229568620A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432873A>G" "" "pathogenic" ""
"0000172372" "0" "99" "1" "229568614" "229568614" "subst" "0" "00491" "ACTA1_000015" "g.229568614C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432867C>T" "" "pathogenic" ""
"0000172373" "0" "99" "1" "229568588" "229568588" "subst" "0" "00491" "ACTA1_000016" "g.229568588C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432841C>G" "" "pathogenic" ""
"0000172374" "0" "99" "1" "229568560" "229568560" "subst" "0" "00483" "ACTA1_000212" "g.229568560A>T" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432813A>T" "" "pathogenic" ""
"0000172375" "0" "99" "1" "229568554" "229568554" "subst" "0" "00491" "ACTA1_000018" "g.229568554G>A" "" "{PMID:Ilkovski et al, 2004:15198992}" "" "" "" "De novo" "" "" "0" "" "" "g.229432807G>A" "" "pathogenic" ""
"0000172376" "0" "99" "1" "229568540" "229568540" "subst" "0" "00491" "ACTA1_000019" "g.229568540T>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432793T>A" "" "pathogenic" ""
"0000172377" "0" "99" "1" "229568533" "229568533" "subst" "0" "00483" "ACTA1_000021" "g.229568533T>A" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432786T>A" "" "pathogenic" ""
"0000172378" "0" "99" "1" "229568530" "229568530" "subst" "0" "00491" "ACTA1_000022" "g.229568530C>T" "" "{PMID:Graziano et al, 2005:15952992}" "" "" "" "De novo" "" "" "0" "" "" "g.229432783C>T" "" "pathogenic" ""
"0000172379" "0" "99" "1" "229568528" "229568528" "subst" "0" "00483" "ACTA1_000023" "g.229568528T>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432781T>G" "" "pathogenic" ""
"0000172380" "0" "99" "1" "229568527" "229568527" "subst" "0" "00491" "ACTA1_000024" "g.229568527A>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432780A>C" "" "pathogenic" ""
"0000172381" "0" "99" "1" "229568522" "229568522" "subst" "0" "00483" "ACTA1_000025" "g.229568522T>C" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432775T>C" "" "pathogenic" ""
"0000172382" "0" "99" "1" "229568522" "229568522" "subst" "0" "00491" "ACTA1_000025" "g.229568522T>C" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "" "0" "" "" "g.229432775T>C" "" "pathogenic" ""
"0000172383" "0" "99" "1" "229568504" "229568504" "subst" "0" "00483" "ACTA1_000026" "g.229568504C>T" "" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432757C>T" "" "pathogenic" ""
"0000172384" "0" "99" "1" "229568475" "229568475" "subst" "0" "00491" "ACTA1_000027" "g.229568475G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432728G>C" "" "pathogenic" ""
"0000172385" "11" "99" "1" "229568470" "229568470" "subst" "0" "00491" "ACTA1_000210" "g.229568470A>G" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0001}" "" "Leu94Pro" "" "Germline" "" "" "0" "" "" "g.229432723A>G" "" "pathogenic" ""
"0000172386" "21" "99" "1" "229567767" "229567767" "subst" "4.09934E-6" "00491" "ACTA1_000097" "g.229567767T>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0005}" "" "Glu259Val" "Autosomal recessive" "Germline" "" "" "0" "" "" "g.229432020T>A" "" "pathogenic" ""
"0000172387" "0" "77" "1" "229568430" "229568430" "subst" "0" "00491" "ACTA1_000029" "g.229568430C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432683C>G" "" "likely pathogenic" ""
"0000172388" "0" "99" "1" "229568419" "229568419" "subst" "0" "00491" "ACTA1_000030" "g.229568419T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432672T>C" "" "pathogenic" ""
"0000172389" "0" "99" "1" "229568537" "229568537" "subst" "0" "00491" "ACTA1_000020" "g.229568537C>T" "" "{PMID:Ilkovski et al, 2004:15198992}" "" "" "" "De novo" "" "" "0" "" "" "g.229432790C>T" "" "pathogenic" ""
"0000172390" "0" "99" "1" "229568411" "229568411" "subst" "0" "00491" "ACTA1_000031" "g.229568411C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432664C>T" "" "pathogenic" ""
"0000172391" "0" "99" "1" "229568411" "229568411" "subst" "0" "00491" "ACTA1_000032" "g.229568411C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432664C>A" "" "pathogenic" ""
"0000172392" "1" "99" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000033" "g.229568407T>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "" "N115S" "" "Germline" "" "" "0" "" "" "g.229432660T>C" "" "pathogenic" ""
"0000172393" "1" "99" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000034" "g.229568407T>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432660T>G" "" "pathogenic" ""
"0000172394" "0" "99" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000034" "g.229568407T>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432660T>G" "" "pathogenic" ""
"0000172395" "0" "99" "1" "229568404" "229568404" "subst" "0" "00491" "ACTA1_000035" "g.229568404C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432657C>T" "" "pathogenic" ""
"0000172396" "0" "99" "1" "229568392" "229568392" "subst" "0" "00491" "ACTA1_000036" "g.229568392G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432645G>C" "" "pathogenic" ""
"0000172397" "3" "99" "1" "229568364" "229568364" "del" "0" "00491" "ACTA1_000037" "g.229568364del" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432617del" "" "pathogenic" ""
"0000172398" "0" "99" "1" "229568357" "229568357" "subst" "0" "00491" "ACTA1_000038" "g.229568357T>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Junglbuth et al, 2001:11166164}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432610T>C" "" "pathogenic" ""
"0000172399" "0" "99" "1" "229568357" "229568357" "subst" "0" "00491" "ACTA1_000038" "g.229568357T>C" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432610T>C" "" "pathogenic" ""
"0000172400" "0" "99" "1" "229568355" "229568355" "subst" "0" "00491" "ACTA1_000039" "g.229568355C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432608C>T" "" "pathogenic" ""
"0000172401" "1" "99" "1" "229568350" "229568350" "subst" "0" "00483" "ACTA1_000040" "g.229568350A>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432603A>G" "" "pathogenic" ""
"0000172402" "1" "99" "1" "229568343" "229568343" "subst" "0" "00491" "ACTA1_000041" "g.229568343G>C" "" "{PMID:Schnell et al, 2000:10838259}, {PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0008}" "" "I136M" "" "Germline" "" "" "0" "" "" "g.229432596G>C" "" "pathogenic" ""
"0000172403" "0" "99" "1" "229568343" "229568343" "subst" "0" "00491" "ACTA1_000041" "g.229568343G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432596G>C" "" "pathogenic" ""
"0000172404" "0" "99" "1" "229568344" "229568344" "subst" "0" "00491" "ACTA1_000042" "g.229568344A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432597A>G" "" "pathogenic" ""
"0000172405" "0" "99" "1" "229568340" "229568340" "subst" "0" "00491" "ACTA1_000043" "g.229568340C>G" "" "{PMID:Koy et al, 2007:18461503}" "" "" "" "De novo" "" "" "0" "" "" "g.229432593C>G" "" "pathogenic" ""
"0000172406" "0" "99" "1" "229568339" "229568339" "subst" "0" "00491" "ACTA1_000044" "g.229568339C>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "Parents not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.229432592C>G" "" "pathogenic" ""
"0000172407" "0" "99" "1" "229568335" "229568335" "subst" "0" "00491" "ACTA1_000045" "g.229568335A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432588A>G" "" "pathogenic" ""
"0000172408" "1" "99" "1" "229568332" "229568332" "subst" "0" "00491" "ACTA1_000046" "g.229568332A>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432585A>G" "" "pathogenic" ""
"0000172409" "0" "99" "1" "229568317" "229568322" "dup" "0" "00491" "ACTA1_000048" "g.229568317_229568322dup" "" "{PMID:Sparrow et al, 2003:12921789}" "" "436_441dup" "" "Germline" "" "" "0" "" "" "g.229432570_229432575dup" "" "pathogenic" ""
"0000172410" "0" "99" "1" "229568314" "229568314" "subst" "0" "00483" "ACTA1_000049" "g.229568314C>T" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432567C>T" "" "pathogenic" ""
"0000172411" "0" "99" "1" "229568315" "229568315" "subst" "0" "00491" "ACTA1_000050" "g.229568315C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432568C>T" "" "pathogenic" ""
"0000172412" "0" "99" "1" "229568311" "229568311" "subst" "0" "00491" "ACTA1_000051" "g.229568311C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432564C>T" "" "pathogenic" ""
"0000172413" "1" "99" "1" "229568308" "229568308" "subst" "0" "00491" "ACTA1_000052" "g.229568308G>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432561G>T" "" "pathogenic" ""
"0000172414" "0" "99" "1" "229568308" "229568308" "subst" "0" "00491" "ACTA1_000053" "g.229568308G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432561G>C" "" "pathogenic" ""
"0000172415" "0" "99" "1" "229568167" "229568167" "subst" "0" "00491" "ACTA1_000054" "g.229568167C>T" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Schroder et al, 2004:15221331}" "" "" "" "Germline" "" "" "0" "" "" "g.229432420C>T" "" "pathogenic" ""
"0000172416" "0" "99" "1" "229568146" "229568146" "subst" "0" "00483" "ACTA1_000055" "g.229568146G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432399G>C" "" "pathogenic" ""
"0000172417" "0" "99" "1" "229568140" "229568140" "subst" "0" "00491" "ACTA1_000056" "g.229568140C>G" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0004}" "" "V163L" "" "De novo" "" "" "0" "" "" "g.229432393C>G" "" "pathogenic" ""
"0000172418" "0" "99" "1" "229568140" "229568140" "subst" "0" "00491" "ACTA1_000057" "g.229568140C>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0004}" "" "V163L" "" "Germline" "" "" "0" "" "" "g.229432393C>A" "" "pathogenic" ""
"0000172419" "1" "99" "1" "229568140" "229568140" "subst" "0" "00491" "ACTA1_000057" "g.229568140C>A" "" "{PMID:Weeks et al,2003:12775505}, {PMID:Kaimaktchiev et al, 2006:16477620}" "" "" "" "Germline" "" "" "0" "" "" "g.229432393C>A" "" "pathogenic" ""
"0000172420" "1" "99" "1" "229568140" "229568140" "subst" "0" "00491" "ACTA1_000058" "g.229568140C>T" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}, {PMID:Hutchinson et al, 2006:16427282}, {OMIM102610:0014}" "" "V163M" "" "Germline" "" "" "0" "" "" "g.229432393C>T" "" "pathogenic" ""
"0000172421" "0" "99" "1" "229568118" "229568118" "subst" "0" "00491" "ACTA1_000059" "g.229568118G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432371G>T" "" "pathogenic" ""
"0000172422" "0" "99" "1" "229568118" "229568118" "subst" "0" "00491" "ACTA1_000059" "g.229568118G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432371G>T" "" "pathogenic" ""
"0000172423" "0" "99" "1" "229568094" "229568094" "subst" "0" "00491" "ACTA1_000061" "g.229568094A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432347A>G" "" "pathogenic" ""
"0000172424" "0" "99" "1" "229568118" "229568118" "subst" "0" "00491" "ACTA1_000060" "g.229568118G>C" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432371G>C" "" "pathogenic" ""
"0000172425" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000062" "g.229568092C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432345C>T" "" "pathogenic" ""
"0000172426" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432345C>G" "" "pathogenic" ""
"0000172427" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432345C>G" "" "pathogenic" ""
"0000172428" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432345C>G" "" "pathogenic" ""
"0000172429" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432345C>G" "" "pathogenic" ""
"0000172430" "0" "99" "1" "229568092" "229568092" "subst" "0" "00491" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432345C>G" "" "pathogenic" ""
"0000172431" "0" "99" "1" "229568091" "229568091" "subst" "0" "00483" "ACTA1_000064" "g.229568091T>C" "" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432344T>C" "" "pathogenic" ""
"0000172432" "3" "99" "1" "229568093" "229568093" "del" "0" "00491" "ACTA1_000066" "g.229568093del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "both parents carriers" "Germline" "" "" "0" "" "" "g.229432346del" "" "pathogenic" ""
"0000172433" "3" "99" "1" "229568093" "229568093" "del" "0" "00491" "ACTA1_000066" "g.229568093del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "both parents carriers" "Germline" "" "" "0" "" "" "g.229432346del" "" "pathogenic" ""
"0000172434" "3" "99" "1" "229568093" "229568093" "del" "0" "00491" "ACTA1_000066" "g.229568093del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "both parents carriers" "Germline" "" "" "0" "" "" "g.229432346del" "" "pathogenic" ""
"0000172435" "3" "99" "1" "229568093" "229568093" "del" "0" "00491" "ACTA1_000066" "g.229568093del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "parents not tested" "Germline" "" "" "0" "" "" "g.229432346del" "" "pathogenic" ""
"0000172436" "0" "99" "1" "229568082" "229568082" "subst" "0" "00483" "ACTA1_000065" "g.229568082C>T" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432335C>T" "" "pathogenic" ""
"0000172437" "1" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000067" "g.229568080G>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432333G>A" "" "pathogenic" ""
"0000172438" "0" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000068" "g.229568080G>C" "" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}" "" "" "" "De novo" "" "" "0" "" "" "g.229432333G>C" "" "pathogenic" ""
"0000172439" "0" "99" "1" "229568080" "229568080" "subst" "0" "00483" "ACTA1_000068" "g.229568080G>C" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432333G>C" "" "pathogenic" ""
"0000172440" "0" "99" "1" "229568079" "229568079" "subst" "0" "00491" "ACTA1_000069" "g.229568079C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432332C>A" "" "pathogenic" ""
"0000172441" "0" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000070" "g.229568080G>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432333G>T" "" "pathogenic" ""
"0000172442" "0" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000070" "g.229568080G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "germline mosaicism in parent" "Germline" "" "" "0" "" "" "g.229432333G>T" "" "pathogenic" ""
"0000172443" "1" "99" "1" "229568063" "229568063" "subst" "0" "00491" "ACTA1_000071" "g.229568063G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432316G>T" "" "pathogenic" ""
"0000172444" "2" "99" "1" "229567467" "229567467" "subst" "1.21851E-5" "00491" "ACTA1_000142" "g.229567467C>A" "" "{PMID:Laing et al 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431720C>A" "" "pathogenic" ""
"0000172445" "0" "99" "1" "229568054" "229568054" "subst" "0" "00491" "ACTA1_000072" "g.229568054C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432307C>A" "" "pathogenic" ""
"0000172446" "0" "99" "1" "229568041" "229568041" "subst" "0" "00491" "ACTA1_000073" "g.229568041G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432294G>A" "" "pathogenic" ""
"0000172447" "0" "99" "1" "229568040" "229568040" "subst" "0" "00491" "ACTA1_000074" "g.229568040C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432293C>A" "" "pathogenic" ""
"0000172448" "0" "99" "1" "229568040" "229568040" "subst" "0" "00491" "ACTA1_000075" "g.229568040C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432293C>T" "" "pathogenic" ""
"0000172449" "0" "99" "1" "229568038" "229568038" "subst" "0" "00483" "ACTA1_000076" "g.229568038C>T" "" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432291C>T" "" "pathogenic" ""
"0000172450" "0" "99" "1" "229568034" "229568034" "subst" "0" "00491" "ACTA1_000077" "g.229568034T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432287T>C" "" "pathogenic" ""
"0000172451" "0" "99" "1" "229568017" "229568017" "subst" "0" "00491" "ACTA1_000078" "g.229568017C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432270C>T" "" "pathogenic" ""
"0000172452" "0" "99" "1" "229568017" "229568017" "subst" "0" "00491" "ACTA1_000078" "g.229568017C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432270C>T" "" "pathogenic" ""
"0000172453" "1" "99" "1" "229568017" "229568017" "subst" "0" "00491" "ACTA1_000078" "g.229568017C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432270C>T" "" "pathogenic" ""
"0000172454" "1" "99" "1" "229567928" "229567928" "subst" "0" "00491" "ACTA1_000079" "g.229567928C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432181C>G" "" "pathogenic" ""
"0000172455" "1" "55" "1" "229568547" "229568547" "subst" "0" "00491" "ACTA1_000144" "g.229568547C>T" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "RNA muscle normal; pathogenicity unclear;" "De novo" "" "" "0" "" "" "g.229432800C>T" "" "VUS" ""
"0000172456" "2" "55" "1" "229567922" "229567922" "subst" "0" "00491" "ACTA1_000080" "g.229567922C>G" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "pathogenicity unclear" "De novo" "" "" "0" "" "" "g.229432175C>G" "" "VUS" ""
"0000172457" "0" "99" "1" "229567881" "229567881" "subst" "0" "00491" "ACTA1_000081" "g.229567881A>G" "" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0012}" "" "L221P" "not in >300 control chromosomes" "Germline" "" "" "0" "" "" "g.229432134A>G" "" "pathogenic" ""
"0000172458" "0" "99" "1" "229567873" "229567873" "subst" "0" "00491" "ACTA1_000082" "g.229567873C>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432126C>G" "" "pathogenic" ""
"0000172459" "0" "99" "1" "229567872" "229567872" "subst" "0" "00491" "ACTA1_000083" "g.229567872T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432125T>C" "" "pathogenic" ""
"0000172460" "0" "99" "1" "229567872" "229567872" "subst" "0" "00483" "ACTA1_000083" "g.229567872T>C" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432125T>C" "" "pathogenic" ""
"0000172461" "0" "99" "1" "229567864" "229567864" "subst" "0" "00491" "ACTA1_000084" "g.229567864T>C" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432117T>C" "" "pathogenic" ""
"0000172462" "0" "99" "1" "229567864" "229567864" "subst" "0" "00491" "ACTA1_000084" "g.229567864T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432117T>C" "" "pathogenic" ""
"0000172463" "0" "99" "1" "229567863" "229567863" "subst" "0" "00491" "ACTA1_000085" "g.229567863A>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432116A>G" "" "pathogenic" ""
"0000172464" "0" "99" "1" "229567863" "229567863" "subst" "0" "00491" "ACTA1_000085" "g.229567863A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432116A>G" "" "pathogenic" ""
"0000172465" "0" "99" "1" "229567862" "229567862" "subst" "0" "00491" "ACTA1_000086" "g.229567862C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432115C>T" "" "pathogenic" ""
"0000172466" "0" "99" "1" "229567862" "229567862" "subst" "0" "00483" "ACTA1_000087" "g.229567862C>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432115C>G" "" "pathogenic" ""
"0000172467" "0" "99" "1" "229567862" "229567862" "subst" "0" "00491" "ACTA1_000088" "g.229567862C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432115C>A" "" "pathogenic" ""
"0000172468" "0" "99" "1" "229567854" "229567854" "subst" "0" "00491" "ACTA1_000089" "g.229567854G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432107G>A" "" "pathogenic" ""
"0000172469" "0" "99" "1" "229567822" "229567822" "subst" "0" "00491" "ACTA1_000090" "g.229567822C>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432075C>T" "" "pathogenic" ""
"0000172470" "0" "99" "1" "229567810" "229567810" "subst" "0" "00491" "ACTA1_000091" "g.229567810C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432063C>G" "" "pathogenic" ""
"0000172471" "0" "99" "1" "229567807" "229567807" "subst" "0" "00491" "ACTA1_000092" "g.229567807G>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432060G>T" "" "pathogenic" ""
"0000172472" "1" "99" "1" "229567806" "229567806" "subst" "0" "00483" "ACTA1_000093" "g.229567806T>C" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432059T>C" "" "pathogenic" ""
"0000172473" "0" "99" "1" "229567791" "229567791" "subst" "0" "00483" "ACTA1_000094" "g.229567791C>T" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229432044C>T" "" "pathogenic" ""
"0000172474" "0" "99" "1" "229567776" "229567776" "subst" "0" "00491" "ACTA1_000095" "g.229567776C>T" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432029C>T" "" "pathogenic" ""
"0000172475" "0" "99" "1" "229567776" "229567776" "subst" "0" "00491" "ACTA1_000096" "g.229567776C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229432029C>A" "" "pathogenic" ""
"0000172476" "1" "99" "1" "229568321" "229568321" "del" "4.08654E-6" "00483" "ACTA1_000047" "g.229568321del" "" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432574del" "" "pathogenic" ""
"0000172477" "2" "99" "1" "229567767" "229567767" "subst" "4.09934E-6" "00483" "ACTA1_000097" "g.229567767T>A" "" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432020T>A" "" "pathogenic" ""
"0000172478" "0" "99" "1" "229567755" "229567755" "subst" "0" "00491" "ACTA1_000098" "g.229567755T>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Buxmann et al, 2001:11748499}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229432008T>A" "" "pathogenic" ""
"0000172479" "0" "99" "1" "229567753" "229567753" "subst" "0" "00491" "ACTA1_000099" "g.229567753G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432006G>T" "" "pathogenic" ""
"0000172480" "0" "99" "1" "229567747" "229567747" "subst" "0" "00491" "ACTA1_000100" "g.229567747A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432000A>G" "" "pathogenic" ""
"0000172481" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000101" "g.229567741C>T" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "consanguineous parents" "De novo" "" "" "0" "" "" "g.229431994C>T" "" "pathogenic" ""
"0000172482" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172483" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172484" "1" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0007}" "" "G268C" "" "De novo" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172485" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172486" "0" "99" "1" "229567741" "229567741" "subst" "0" "00483" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172487" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172488" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172489" "0" "99" "1" "229567649" "229567649" "subst" "0" "00491" "ACTA1_000104" "g.229567649C>T" "" "{PMID:Ohlsson et al, 2004:15336687}" "" "" "" "De novo" "" "" "0" "" "" "g.229431902C>T" "" "pathogenic" ""
"0000172490" "0" "99" "1" "229567649" "229567649" "subst" "0" "00491" "ACTA1_000104" "g.229567649C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431902C>T" "" "pathogenic" ""
"0000172491" "0" "99" "1" "229567646" "229567646" "subst" "0" "00491" "ACTA1_000105" "g.229567646A>C" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229431899A>C" "" "pathogenic" ""
"0000172492" "0" "99" "1" "229567637" "229567637" "subst" "0" "00491" "ACTA1_000106" "g.229567637G>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431890G>T" "" "pathogenic" ""
"0000172493" "0" "99" "1" "229567617" "229567617" "subst" "0" "00483" "ACTA1_000107" "g.229567617A>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229431870A>G" "" "pathogenic" ""
"0000172494" "0" "99" "1" "229567617" "229567617" "subst" "0" "00491" "ACTA1_000107" "g.229567617A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431870A>G" "" "pathogenic" ""
"0000172495" "0" "99" "1" "229567612" "229567612" "subst" "0" "00483" "ACTA1_000108" "g.229567612G>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "De novo" "" "" "0" "" "" "g.229431865G>C" "" "pathogenic" ""
"0000172496" "0" "99" "1" "229567604" "229567604" "subst" "0" "00491" "ACTA1_000109" "g.229567604A>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229431857A>T" "" "pathogenic" ""
"0000172497" "0" "99" "1" "229567604" "229567604" "subst" "0" "00491" "ACTA1_000110" "g.229567604A>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431857A>C" "" "pathogenic" ""
"0000172498" "0" "99" "1" "229567595" "229567595" "subst" "0" "00483" "ACTA1_000111" "g.229567595T>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229431848T>C" "" "pathogenic" ""
"0000172499" "0" "99" "1" "229567587" "229567587" "subst" "0" "00491" "ACTA1_000112" "g.229567587T>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431840T>A" "" "pathogenic" ""
"0000172500" "0" "99" "1" "229567577" "229567577" "subst" "0" "00491" "ACTA1_000113" "g.229567577T>A" "" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0011}" "" "D292V" "not in >300 control chromosomes" "Germline" "" "" "0" "" "" "g.229431830T>A" "" "pathogenic" ""
"0000172501" "0" "99" "1" "229567380" "229567380" "subst" "0" "00491" "ACTA1_000117" "g.229567380G>A" "" "{PMID:Laing et al, 2004:15468086}, {OMIM102610:0013}" "" "P332S" "not in >300 control chromosomes" "Unknown" "" "" "0" "" "" "g.229431633G>A" "" "pathogenic" ""
"0000172502" "0" "99" "1" "229567374" "229567374" "subst" "0" "00491" "ACTA1_000211" "g.229567374C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431627C>T" "" "pathogenic" ""
"0000172503" "1" "99" "1" "229567373" "229567373" "subst" "0" "00491" "ACTA1_000119" "g.229567373T>G" "" "{PMID:Kaindl et al, 2004:15520409}, {OMIM102610:0010}" "" "E334A" "" "Germline" "" "" "0" "" "" "g.229431626T>G" "" "pathogenic" ""
"0000172504" "0" "99" "1" "229567368" "229567368" "subst" "0" "00491" "ACTA1_000120" "g.229567368T>C" "" "{PMID:D\'Amico et al, 2006:16945537}" "" "" "" "De novo" "" "" "0" "" "" "g.229431621T>C" "" "pathogenic" ""
"0000172505" "0" "99" "1" "229567367" "229567367" "subst" "0" "00491" "ACTA1_000121" "g.229567367T>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431620T>A" "" "pathogenic" ""
"0000172506" "0" "99" "1" "229567350" "229567350" "del" "0" "00483" "ACTA1_000122" "g.229567350del" "" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229431603del" "" "pathogenic" ""
"0000172507" "0" "99" "1" "229567331" "229567331" "subst" "0" "00491" "ACTA1_000123" "g.229567331G>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229431584G>A" "" "pathogenic" ""
"0000172508" "1" "99" "1" "229567319" "229567319" "subst" "0" "00491" "ACTA1_000124" "g.229567319A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431572A>G" "" "pathogenic" ""
"0000172509" "1" "99" "1" "229567305" "229567305" "subst" "0" "00491" "ACTA1_000125" "g.229567305T>G" "" "{PMID:Ilkovski et al, 2001:11333380}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2004:15198992}, {OMIM102610:0006}" "" "I357L" "" "De novo" "" "" "0" "" "" "g.229431558T>G" "" "pathogenic" ""
"0000172510" "1" "99" "1" "229567288" "229567288" "del" "0" "00491" "ACTA1_000126" "g.229567288del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "Germline" "" "" "0" "" "" "g.229431541del" "" "pathogenic" ""
"0000172511" "2" "99" "1" "229567288" "229567288" "del" "0" "00491" "ACTA1_000126" "g.229567288del" "" "{PMID:Nowak et al, 2007:17187373}" "" "" "" "Germline" "" "" "0" "" "" "g.229431541del" "" "pathogenic" ""
"0000172512" "0" "99" "1" "229567274" "229567274" "subst" "0" "00491" "ACTA1_000127" "g.229567274G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431527G>A" "" "pathogenic" ""
"0000172513" "0" "99" "1" "229567269" "229567269" "subst" "0" "00491" "ACTA1_000128" "g.229567269T>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431522T>G" "" "pathogenic" ""
"0000172514" "0" "99" "1" "229567266" "229567266" "subst" "0" "00491" "ACTA1_000129" "g.229567266C>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}" "" "" "" "De novo" "" "" "0" "" "" "g.229431519C>A" "" "pathogenic" ""
"0000172515" "1" "99" "1" "229567260" "229567260" "subst" "0" "00491" "ACTA1_000130" "g.229567260G>T" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431513G>T" "" "pathogenic" ""
"0000172516" "0" "99" "1" "229567260" "229567260" "subst" "0" "00491" "ACTA1_000131" "g.229567260G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431513G>A" "" "pathogenic" ""
"0000172517" "0" "99" "1" "229567257" "229567257" "subst" "0" "00491" "ACTA1_000132" "g.229567257T>G" "" "{PMID:Wallgren-Pettersson et al, 2001:11525890}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "" "0" "" "" "g.229431510T>G" "" "pathogenic" ""
"0000172518" "1" "99" "1" "229567257" "229567257" "subst" "0" "00483" "ACTA1_000132" "g.229567257T>G" "" "{PMID:Sparrow et al, 2003:12921789}, {PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229431510T>G" "" "pathogenic" ""
"0000172519" "0" "99" "1" "229567257" "229567257" "subst" "0" "00491" "ACTA1_000132" "g.229567257T>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431510T>G" "" "pathogenic" ""
"0000172520" "0" "99" "1" "229567257" "229567257" "subst" "0" "00491" "ACTA1_000133" "g.229567257T>C" "" "{PMID:Ohlsson et al, 2004:15336687}" "" "" "" "De novo" "" "" "0" "" "" "g.229431510T>C" "" "pathogenic" ""
"0000172521" "0" "99" "1" "229567250" "229567250" "subst" "0" "00491" "ACTA1_000134" "g.229567250A>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431503A>T" "" "pathogenic" ""
"0000172522" "1" "99" "1" "229567250" "229567250" "subst" "0" "00491" "ACTA1_000135" "g.229567250A>C" "" "{PMID:Bouldin et al, 2006:16967490}" "" "" "" "Germline" "" "" "0" "" "" "g.229431503A>C" "" "pathogenic" ""
"0000172523" "0" "99" "1" "229567248" "229567248" "subst" "0" "00491" "ACTA1_000136" "g.229567248A>G" "" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "Unknown" "" "" "0" "" "" "g.229431501A>G" "" "pathogenic" ""
"0000172524" "0" "99" "1" "229567247" "229567247" "subst" "0" "00491" "ACTA1_000137" "g.229567247T>C" "" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "De novo" "" "" "0" "" "" "g.229431500T>C" "" "pathogenic" ""
"0000172525" "0" "99" "1" "229567246" "229567246" "subst" "0" "00491" "ACTA1_000138" "g.229567246C>A" "" "{PMID:Wallefeld et al, 2006:16945536}" "" "" "" "De novo" "" "" "0" "" "" "g.229431499C>A" "" "pathogenic" ""
"0000172526" "0" "11" "1" "229568304" "229568304" "subst" "0.00241524" "00491" "ACTA1_000145" "g.229568304G>T" "" "{PMID:Mayosi et al, 1999:10528865}" "" "Thr151Thr" "known polymorphism" "Germline" "" "" "0" "" "" "g.229432557G>T" "" "benign" ""
"0000172527" "0" "11" "1" "229568084" "229568084" "subst" "0.000753718" "00491" "ACTA1_000194" "g.229568084C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "Ala183Ala" "known polymorphism" "Germline" "" "" "0" "" "" "g.229432337C>T" "" "benign" ""
"0000172528" "0" "11" "1" "229567384" "229567384" "subst" "0.00431693" "00491" "ACTA1_000147" "g.229567384G>T" "" "{PMID:Mayosi et al, 1999:10528865}" "" "Ile332Ile" "" "Germline" "" "" "0" "" "" "g.229431637G>T" "" "benign" ""
"0000172529" "0" "11" "1" "229569803" "229569804" "delins" "0" "00491" "ACTA1_000200" "g.229569803_229569804delinsGA" "" "" "" "" "rs605428; rs605430" "Germline" "" "" "0" "" "" "g.229434056_229434057delinsGA" "" "benign" ""
"0000172530" "0" "11" "1" "229568637" "229568637" "subst" "0.188242" "00491" "ACTA1_000150" "g.229568637C>G" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "rs41271481" "0" "" "" "g.229432890C>G" "" "benign" ""
"0000172531" "0" "11" "1" "229568632" "229568632" "subst" "0.207492" "00491" "ACTA1_000151" "g.229568632A>G" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "rs11803533" "0" "" "" "g.229432885A>G" "" "benign" ""
"0000172532" "0" "11" "1" "" "" "" "" "00491" "ACTA1_000152" "g.229568244_229568273CCCGCC[3_5]" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Graziano et al, 2004:15138616}" "" "" "known polymorphism" "Germline" "" "" "0" "" "" "g.229432497_229432526[3_5]" "" "benign" ""
"0000172533" "0" "11" "1" "229567684" "229567684" "del" "0" "00491" "ACTA1_000154" "g.229567684del" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "rs59228224" "0" "" "" "g.229431937del" "" "benign" ""
"0000172534" "0" "11" "1" "229568231" "229568231" "subst" "0" "00491" "ACTA1_000193" "g.229568231T>G" "" "" "" "455-53C>A" "" "Germline" "" "rs527621" "0" "" "" "g.229432484T>G" "" "benign" ""
"0000172535" "0" "11" "1" "229567663" "229567663" "subst" "0.19494" "00491" "ACTA1_000155" "g.229567663C>G" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "" "Germline" "" "rs6673359" "0" "" "" "g.229431916C>G" "" "benign" ""
"0000172536" "0" "11" "1" "229567662" "229567662" "dup" "0" "00491" "ACTA1_000214" "g.229567662dup" "" "{PMID:Graziano et al, 2004:15138616}" "" "" "known polymorphism" "Germline" "" "" "0" "" "" "g.229431915dup" "" "benign" ""
"0000172537" "3" "99" "1" "229568179" "229568179" "subst" "0" "00491" "ACTA1_000139" "g.229568179C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432432C>T" "" "pathogenic" ""
"0000172539" "1" "99" "1" "229568016" "229568016" "subst" "0" "00491" "ACTA1_000140" "g.229568016C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432269C>T" "" "pathogenic" ""
"0000172540" "2" "99" "1" "229567556" "229567556" "subst" "0" "00491" "ACTA1_000114" "g.229567556A>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431809A>T" "" "pathogenic" ""
"0000172541" "1" "99" "1" "229567650" "229567650" "subst" "4.13657E-6" "00491" "ACTA1_000141" "g.229567650C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431903C>A" "" "pathogenic" ""
"0000172542" "2" "99" "1" "229567650" "229567650" "subst" "4.13657E-6" "00491" "ACTA1_000141" "g.229567650C>A" "" "{PMID:Sparrow et al, 2003:12921789}" "" "" "" "Germline" "" "" "0" "" "" "g.229431903C>A" "" "pathogenic" ""
"0000172543" "0" "99" "1" "229568533" "229568533" "subst" "0" "00483" "ACTA1_000157" "g.229568533T>C" "" "{PMID:Agrawal et al, 2004:15236405}" "" "" "" "Germline" "" "" "0" "" "" "g.229432786T>C" "" "pathogenic" ""
"0000172544" "0" "99" "1" "229567747" "229567747" "subst" "0" "00491" "ACTA1_000100" "g.229567747A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432000A>G" "" "pathogenic" ""
"0000172545" "0" "99" "1" "229567475" "229567477" "del" "0" "00491" "ACTA1_000205" "g.229567475_229567477del" "" "{PMID:Laing et al, 2009:19562689}" "" "982_984delAAG" "" "Germline" "" "" "0" "" "" "g.229431728_229431730del" "" "pathogenic" ""
"0000172546" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172547" "1" "99" "1" "229567319" "229567319" "subst" "0" "00491" "ACTA1_000159" "g.229567319A>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431572A>T" "" "pathogenic" ""
"0000172548" "0" "99" "1" "229568847" "229568847" "subst" "0" "00491" "ACTA1_000002" "g.229568847C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433100C>T" "" "pathogenic" ""
"0000172549" "0" "99" "1" "229568826" "229568826" "subst" "0" "00491" "ACTA1_000160" "g.229568826C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433079C>T" "" "pathogenic" ""
"0000172550" "0" "99" "1" "229568814" "229568814" "subst" "0" "00491" "ACTA1_000003" "g.229568814C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433067C>G" "" "pathogenic" ""
"0000172551" "0" "99" "1" "229568814" "229568814" "subst" "0" "00491" "ACTA1_000003" "g.229568814C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433067C>G" "" "pathogenic" ""
"0000172552" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172553" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172554" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000006" "g.229568754C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433007C>G" "" "pathogenic" ""
"0000172555" "0" "99" "1" "229568753" "229568753" "subst" "0" "00491" "ACTA1_000161" "g.229568753A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229433006A>G" "" "pathogenic" ""
"0000172556" "0" "99" "1" "229568744" "229568744" "subst" "0" "00491" "ACTA1_000008" "g.229568744G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432997G>A" "" "pathogenic" ""
"0000172557" "0" "99" "1" "229568735" "229568735" "subst" "0" "00491" "ACTA1_000011" "g.229568735T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432988T>C" "" "pathogenic" ""
"0000172558" "0" "99" "1" "229568615" "229568615" "subst" "0" "00491" "ACTA1_000162" "g.229568615C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432868C>A" "" "pathogenic" ""
"0000172559" "0" "99" "1" "229568588" "229568588" "subst" "0" "00491" "ACTA1_000016" "g.229568588C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432841C>G" "" "pathogenic" ""
"0000172560" "0" "99" "1" "229568560" "229568560" "subst" "0" "00491" "ACTA1_000163" "g.229568560A>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432813A>C" "" "pathogenic" ""
"0000172561" "0" "99" "1" "229568540" "229568540" "subst" "0" "00491" "ACTA1_000164" "g.229568540T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432793T>C" "" "pathogenic" ""
"0000172562" "0" "99" "1" "229568504" "229568504" "subst" "0" "00491" "ACTA1_000026" "g.229568504C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432757C>T" "" "pathogenic" ""
"0000172563" "1" "99" "1" "229568534" "229568534" "subst" "0" "00491" "ACTA1_000165" "g.229568534G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432787G>T" "" "pathogenic" ""
"0000172564" "2" "99" "1" "229567834" "229567834" "subst" "0" "00491" "ACTA1_000173" "g.229567834C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432087C>A" "" "pathogenic" ""
"0000172565" "0" "99" "1" "229568419" "229568419" "subst" "0" "00491" "ACTA1_000030" "g.229568419T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432672T>C" "" "pathogenic" ""
"0000172566" "0" "99" "1" "229568419" "229568419" "subst" "0" "00491" "ACTA1_000030" "g.229568419T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432672T>C" "" "pathogenic" ""
"0000172567" "0" "99" "1" "229568414" "229568414" "subst" "0" "00491" "ACTA1_000166" "g.229568414T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432667T>C" "" "pathogenic" ""
"0000172568" "1" "99" "1" "229568322" "229568322" "subst" "0" "00491" "ACTA1_000184" "g.229568322G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432575G>C" "" "pathogenic" ""
"0000172569" "2" "99" "1" "229567900" "229567900" "subst" "4.06888E-6" "00491" "ACTA1_000171" "g.229567900T>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432153T>A" "" "pathogenic" ""
"0000172570" "0" "99" "1" "229568314" "229568314" "subst" "0" "00491" "ACTA1_000049" "g.229568314C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432567C>T" "" "pathogenic" ""
"0000172571" "0" "99" "1" "229568086" "229568086" "subst" "0" "00491" "ACTA1_000168" "g.229568086C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432339C>T" "" "pathogenic" ""
"0000172572" "0" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000067" "g.229568080G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432333G>A" "" "pathogenic" ""
"0000172573" "0" "99" "1" "229568076" "229568076" "subst" "0" "00491" "ACTA1_000169" "g.229568076T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432329T>C" "" "pathogenic" ""
"0000172574" "0" "99" "1" "229568038" "229568038" "subst" "0" "00491" "ACTA1_000076" "g.229568038C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432291C>T" "" "pathogenic" ""
"0000172575" "0" "99" "1" "229567929" "229567929" "subst" "0" "00491" "ACTA1_000170" "g.229567929T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432182T>C" "" "pathogenic" ""
"0000172576" "0" "99" "1" "229567867" "229567867" "subst" "0" "00491" "ACTA1_000172" "g.229567867C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432120C>G" "" "pathogenic" ""
"0000172577" "0" "99" "1" "229567864" "229567864" "subst" "0" "00491" "ACTA1_000084" "g.229567864T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432117T>C" "" "pathogenic" ""
"0000172578" "0" "99" "1" "229567811" "229567811" "subst" "0" "00491" "ACTA1_000174" "g.229567811G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432064G>T" "" "pathogenic" ""
"0000172579" "0" "99" "1" "229567806" "229567806" "subst" "0" "00491" "ACTA1_000093" "g.229567806T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432059T>C" "" "pathogenic" ""
"0000172580" "0" "99" "1" "229567791" "229567791" "subst" "0" "00491" "ACTA1_000094" "g.229567791C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432044C>T" "" "pathogenic" ""
"0000172581" "0" "99" "1" "229567789" "229567789" "subst" "0" "00491" "ACTA1_000175" "g.229567789T>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432042T>A" "" "pathogenic" ""
"0000172582" "0" "99" "1" "229567779" "229567779" "subst" "0" "00491" "ACTA1_000183" "g.229567779A>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432032A>C" "" "pathogenic" ""
"0000172583" "0" "99" "1" "229567776" "229567776" "subst" "0" "00491" "ACTA1_000095" "g.229567776C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432029C>T" "" "pathogenic" ""
"0000172584" "0" "99" "1" "229567749" "229567749" "subst" "0" "00491" "ACTA1_000177" "g.229567749G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432002G>C" "" "pathogenic" ""
"0000172585" "0" "99" "1" "229567741" "229567742" "delins" "0" "00491" "ACTA1_000213" "g.229567741_229567742delinsTT" "" "{PMID:Laing et al, 2009:19562689}" "" "807_808delCGinsAA" "" "Germline" "" "" "0" "" "" "g.229431994_229431995delinsTT" "" "pathogenic" ""
"0000172586" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172587" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172588" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172589" "0" "99" "1" "229567644" "229567644" "subst" "0" "00491" "ACTA1_000179" "g.229567644C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431897C>G" "" "pathogenic" ""
"0000172590" "0" "99" "1" "229567617" "229567617" "subst" "0" "00491" "ACTA1_000107" "g.229567617A>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431870A>G" "" "pathogenic" ""
"0000172591" "0" "99" "1" "229567590" "229567590" "subst" "0" "00491" "ACTA1_000180" "g.229567590C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431843C>T" "" "pathogenic" ""
"0000172592" "0" "99" "1" "229567260" "229567260" "subst" "0" "00491" "ACTA1_000130" "g.229567260G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431513G>T" "" "pathogenic" ""
"0000172593" "0" "79" "1" "229567255" "229567255" "subst" "0" "00491" "ACTA1_000181" "g.229567255T>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431508T>G" "" "likely pathogenic" ""
"0000172594" "0" "99" "1" "229567253" "229567253" "subst" "0" "00491" "ACTA1_000182" "g.229567253C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431506C>G" "" "pathogenic" ""
"0000172595" "0" "99" "1" "229567274" "229567274" "subst" "0" "00491" "ACTA1_000127" "g.229567274G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431527G>A" "" "pathogenic" ""
"0000172596" "0" "99" "1" "229568548" "229568548" "subst" "0" "00491" "ACTA1_000186" "g.229568548T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432801T>C" "" "pathogenic" ""
"0000172597" "0" "99" "1" "229568155" "229568155" "subst" "0" "00491" "ACTA1_000187" "g.229568155C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432408C>A" "" "pathogenic" ""
"0000172598" "0" "99" "1" "229568041" "229568041" "subst" "0" "00491" "ACTA1_000188" "g.229568041G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432294G>T" "" "pathogenic" ""
"0000172599" "1" "99" "1" "229568017" "229568017" "subst" "0" "00491" "ACTA1_000078" "g.229568017C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432270C>T" "" "pathogenic" ""
"0000172600" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172601" "0" "99" "1" "229568612" "229568612" "subst" "0" "00491" "ACTA1_000190" "g.229568612T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432865T>C" "" "pathogenic" ""
"0000172602" "0" "99" "1" "229567822" "229567822" "subst" "0" "00491" "ACTA1_000090" "g.229567822C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432075C>T" "" "pathogenic" ""
"0000172603" "0" "99" "1" "229568338" "229568338" "subst" "0" "00491" "ACTA1_000195" "g.229568338G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432591G>T" "" "pathogenic" ""
"0000172604" "0" "99" "1" "229568784" "229568784" "subst" "0" "00491" "ACTA1_000004" "g.229568784C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229433037C>T" "" "pathogenic" ""
"0000172605" "0" "79" "1" "229567637" "229567637" "subst" "0" "00491" "ACTA1_000106" "g.229567637G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431890G>T" "" "likely pathogenic" ""
"0000172606" "0" "99" "1" "229568327" "229568327" "subst" "0" "00491" "ACTA1_000197" "g.229568327G>A" "" "{PMID:Arai et al, 2009:19553121} {PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432580G>A" "" "pathogenic" ""
"0000172607" "0" "99" "1" "229568475" "229568475" "subst" "0" "00491" "ACTA1_000027" "g.229568475G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432728G>C" "" "pathogenic" ""
"0000172608" "0" "99" "1" "229568080" "229568080" "subst" "0" "00491" "ACTA1_000068" "g.229568080G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432333G>C" "" "pathogenic" ""
"0000172609" "0" "79" "1" "229568047" "229568047" "subst" "0" "00491" "ACTA1_000198" "g.229568047T>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432300T>G" "" "likely pathogenic" ""
"0000172610" "0" "99" "1" "229568548" "229568548" "subst" "0" "00491" "ACTA1_000186" "g.229568548T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432801T>C" "" "pathogenic" ""
"0000172611" "0" "99" "1" "229567474" "229567474" "subst" "0" "00491" "ACTA1_000199" "g.229567474C>G" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431727C>G" "" "pathogenic" ""
"0000172612" "0" "99" "1" "229568739" "229568739" "subst" "0" "00491" "ACTA1_000010" "g.229568739G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432992G>A" "" "pathogenic" ""
"0000172613" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000202" "g.229568754C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "Same amino acid change p.Val37Leu as previous 7 mutations but different DNA change GTG>TTG rather than GTG>CTG" "Germline" "" "" "0" "" "" "g.229433007C>A" "" "pathogenic" ""
"0000172614" "0" "99" "1" "229568739" "229568739" "subst" "0" "00491" "ACTA1_000010" "g.229568739G>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229432992G>A" "" "pathogenic" ""
"0000172615" "0" "99" "1" "229567741" "229567741" "subst" "0" "00464" "ACTA1_000103" "g.229567741C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "Germline" "" "" "0" "" "" "g.229431994C>A" "" "pathogenic" ""
"0000172616" "1" "79" "1" "229567937" "229567937" "subst" "0" "00464" "ACTA1_000203" "g.229567937G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "creation cryptic splice acceptor site predicted (+insert Ala translated from intron 4)" "Germline" "" "" "0" "" "" "g.229432190G>T" "" "likely pathogenic" ""
"0000172617" "0" "99" "1" "229567379" "229567379" "subst" "0" "00464" "ACTA1_000204" "g.229567379G>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229431632G>C" "" "pathogenic" ""
"0000172618" "0" "99" "1" "229568847" "229568847" "subst" "0" "00491" "ACTA1_000002" "g.229568847C>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229433100C>T" "" "pathogenic" ""
"0000172619" "0" "99" "1" "229568554" "229568554" "subst" "0" "00491" "ACTA1_000208" "g.229568554G>T" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432807G>T" "" "pathogenic" ""
"0000172620" "0" "99" "1" "229567785" "229567785" "subst" "0" "00491" "ACTA1_000209" "g.229567785T>C" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229432038T>C" "" "pathogenic" ""
"0000172621" "0" "99" "1" "229568534" "229568535" "delins" "0" "00491" "ACTA1_000215" "g.229568534_229568535delinsAA" "" "{PMID:Garcia-Angarita, et al 2009:19553116}" "" "" "GAG CAC > GATTAC" "De novo" "" "" "0" "" "" "g.229432787_229432788delinsAA" "" "pathogenic" ""
"0000172622" "0" "77" "1" "229568542" "229568542" "subst" "0" "00491" "ACTA1_000216" "g.229568542G>C" "" "unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.229432795G>C" "" "likely pathogenic" ""
"0000172623" "0" "99" "1" "229568178" "229568178" "subst" "0" "00491" "ACTA1_000217" "g.229568178C>G" "" "{PMID:Ravenscroft et al:20850316}" "" "" "" "De novo" "" "" "0" "" "" "g.229432431C>G" "" "pathogenic" ""
"0000172624" "0" "99" "1" "229568092" "229568092" "subst" "0" "00464" "ACTA1_000062" "g.229568092C>T" "" "unpublished" "" "" "" "De novo" "" "" "0" "" "" "g.229432345C>T" "" "pathogenic" ""
"0000172625" "11" "75" "1" "229568146" "229568146" "subst" "0" "00464" "ACTA1_000218" "g.229568146G>A" "" "" "" "" "?recessive variant" "Germline" "" "" "0" "" "" "g.229432399G>A" "" "likely pathogenic" ""
"0000172626" "21" "75" "1" "229567651" "229567651" "subst" "0" "00464" "ACTA1_000201" "g.229567651T>A" "" "" "" "" "?recessive variant" "Germline" "" "" "0" "" "" "g.229431904T>A" "" "likely pathogenic" ""
"0000172627" "0" "95" "1" "229567260" "229567260" "subst" "0" "00464" "ACTA1_000131" "g.229567260G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431513G>A" "" "pathogenic" ""
"0000172628" "11" "99" "1" "229568470" "229568470" "subst" "0" "00491" "ACTA1_000210" "g.229568470A>G" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0001}" "" "Leu94Pro" "" "Germline" "" "" "0" "" "" "g.229432723A>G" "" "pathogenic" ""
"0000172629" "21" "99" "1" "229567767" "229567767" "subst" "4.09934E-6" "00491" "ACTA1_000097" "g.229567767T>A" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {OMIM102610:0005}" "" "Glu259Val" "" "Germline" "" "" "0" "" "" "g.229432020T>A" "" "pathogenic" ""
"0000172630" "21" "99" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000033" "g.229568407T>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "" "N115S" "" "Germline" "" "" "0" "" "" "g.229432660T>C" "" "pathogenic" ""
"0000172631" "1" "99" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000033" "g.229568407T>C" "" "{PMID:Nowak et al, 1999:10508519}, {PMID:Sparrow et al, 2003:12921789}, {PMID:Ilkovski et al, 2001:11333380}, {OMIM102610:0002}" "" "N115S" "" "Germline" "" "" "0" "" "" "g.229432660T>C" "" "pathogenic" ""
"0000172632" "0" "95" "1" "229568612" "229568612" "subst" "0" "00006" "ACTA1_000190" "g.229568612T>C" "" "{PMID:Hung 2010:20303757}" "" "" "original report erroneous, change confirmed by authors; TPM2:c.=; de novo, in patient" "De novo" "" "" "0" "" "" "g.229432865T>C" "" "pathogenic" ""
"0000172633" "0" "57" "1" "229568397" "229568397" "subst" "0" "00464" "ACTA1_000219" "g.229568397C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432650C>A" "" "likely pathogenic" ""
"0000172634" "0" "57" "1" "229568077" "229568077" "subst" "0" "00491" "ACTA1_000220" "g.229568077C>G" "" "" "" "" "Variant is de novo" "De novo" "" "" "0" "" "" "g.229432330C>G" "" "likely pathogenic" ""
"0000172635" "0" "57" "1" "229568615" "229568615" "subst" "0" "01951" "ACTA1_000221" "g.229568615C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432868C>T" "" "VUS" ""
"0000172636" "0" "57" "1" "229567578" "229567578" "subst" "0" "01951" "ACTA1_000222" "g.229567578C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431831C>A" "" "VUS" ""
"0000172637" "0" "79" "1" "229567834" "229567834" "subst" "0" "00491" "ACTA1_000223" "g.229567834C>T" "" "{PMID:Kim et al J Neurol Sci 2011:21570694}" "" "" "" "De novo" "" "" "0" "" "" "g.229432087C>T" "" "likely pathogenic" ""
"0000172638" "1" "57" "1" "229567937" "229567937" "subst" "0" "00464" "ACTA1_000203" "g.229567937G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432190G>T" "" "VUS" ""
"0000172639" "1" "99" "1" "229567747" "229567747" "subst" "0" "00464" "ACTA1_000100" "g.229567747A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432000A>G" "" "pathogenic" ""
"0000172640" "0" "95" "1" "229568355" "229568355" "subst" "0" "00464" "ACTA1_000039" "g.229568355C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432608C>T" "" "pathogenic" ""
"0000172641" "0" "95" "1" "229568847" "229568847" "subst" "0" "00464" "ACTA1_000002" "g.229568847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229433100C>T" "" "pathogenic" ""
"0000172642" "0" "57" "1" "229567323" "229567323" "subst" "0" "00464" "ACTA1_000224" "g.229567323T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229431576T>C" "" "likely pathogenic" ""
"0000172643" "0" "99" "1" "229568819" "229568819" "subst" "0" "00491" "ACTA1_000225" "g.229568819C>T" "" "{PMID: Stenzel et al 2010:20621480}" "" "" "" "De novo" "" "" "0" "" "" "g.229433072C>T" "" "pathogenic" ""
"0000172644" "1" "99" "1" "229568321" "229568321" "del" "4.08654E-6" "00464" "ACTA1_000047" "g.229568321del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432574del" "" "pathogenic" ""
"0000172645" "2" "99" "1" "229567467" "229567467" "subst" "1.21851E-5" "00464" "ACTA1_000142" "g.229567467C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431720C>A" "" "pathogenic" ""
"0000172646" "0" "77" "1" "229567374" "229567374" "subst" "0" "00464" "ACTA1_000226" "g.229567374C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229431627C>G" "" "likely pathogenic" ""
"0000172647" "0" "77" "1" "229568585" "229568585" "subst" "0" "00464" "ACTA1_000227" "g.229568585C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432838C>T" "" "likely pathogenic" ""
"0000172648" "0" "77" "1" "229567538" "229567538" "subst" "0" "00464" "ACTA1_000228" "g.229567538A>C" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.229431791A>C" "" "likely pathogenic" ""
"0000172649" "0" "77" "1" "229568741" "229568741" "subst" "0" "00464" "ACTA1_000229" "g.229568741C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432994C>T" "" "likely pathogenic" ""
"0000172650" "0" "95" "1" "229567867" "229567867" "subst" "0" "00464" "ACTA1_000172" "g.229567867C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432120C>G" "" "pathogenic" ""
"0000172651" "0" "55" "1" "229567535" "229567535" "subst" "0" "00464" "ACTA1_000230" "g.229567535T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431788T>C" "" "VUS" ""
"0000172652" "0" "99" "1" "229568080" "229568080" "subst" "0" "00464" "ACTA1_000068" "g.229568080G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229432333G>C" "" "pathogenic" ""
"0000172653" "0" "99" "1" "229568542" "229568542" "subst" "0" "00464" "ACTA1_000216" "g.229568542G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432795G>C" "" "pathogenic" ""
"0000172654" "0" "77" "1" "229568482" "229568484" "del" "0" "00490" "ACTA1_000231" "g.229568482_229568484del" "" "" "" "" "deleted sequence = TCT" "De novo" "" "" "0" "" "" "g.229432735_229432737del" "" "likely pathogenic" ""
"0000172655" "0" "97" "1" "229568554" "229568554" "subst" "0" "00464" "ACTA1_000018" "g.229568554G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229432807G>A" "" "pathogenic" ""
"0000172656" "0" "77" "1" "229567590" "229567590" "subst" "0" "00526" "ACTA1_000180" "g.229567590C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229431843C>T" "" "likely pathogenic" ""
"0000172657" "0" "77" "1" "229567864" "229567864" "subst" "0" "00526" "ACTA1_000084" "g.229567864T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432117T>C" "" "likely pathogenic" ""
"0000172658" "0" "77" "1" "229568035" "229568035" "subst" "0" "00526" "ACTA1_000232" "g.229568035A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432288A>G" "" "likely pathogenic" ""
"0000172659" "0" "75" "1" "229567361" "229567361" "subst" "0" "00526" "ACTA1_000233" "g.229567361G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431614G>C" "" "likely pathogenic" ""
"0000172660" "0" "77" "1" "229567882" "229567882" "subst" "0" "00526" "ACTA1_000234" "g.229567882G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229432135G>C" "" "likely pathogenic" ""
"0000172661" "3" "95" "1" "229568179" "229568179" "subst" "0" "00526" "ACTA1_000139" "g.229568179C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432432C>T" "" "pathogenic" ""
"0000172662" "0" "75" "1" "229567475" "229567477" "del" "0" "00526" "ACTA1_000205" "g.229567475_229567477del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431728_229431730del" "" "likely pathogenic" ""
"0000172663" "0" "55" "1" "229568839" "229568839" "subst" "4.87781E-5" "00430" "ACTA1_000235" "g.229568839G>T" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229433092G>T" "" "VUS" ""
"0000172664" "0" "55" "1" "229568703" "229568703" "subst" "0.0202285" "00430" "ACTA1_000236" "g.229568703G>T" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229432956G>T" "" "benign" ""
"0000172665" "0" "15" "1" "229568637" "229568637" "subst" "0.188242" "00430" "ACTA1_000150" "g.229568637C>G" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "rs41271481" "0" "" "" "g.229432890C>G" "" "benign" ""
"0000172666" "0" "15" "1" "229568632" "229568632" "subst" "0.207492" "00430" "ACTA1_000151" "g.229568632A>G" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "rs11803533" "0" "" "" "g.229432885A>G" "" "benign" "ACMG"
"0000172667" "0" "77" "1" "229568624" "229568624" "subst" "0" "00430" "ACTA1_000013" "g.229568624C>A" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229432877C>A" "" "likely pathogenic" ""
"0000172668" "0" "77" "1" "229568315" "229568315" "subst" "0" "00430" "ACTA1_000050" "g.229568315C>T" "" "" "" "" "from website {DBsub-Emory}" "De novo" "" "" "0" "" "" "g.229432568C>T" "" "likely pathogenic" ""
"0000172669" "0" "15" "1" "229567684" "229567684" "del" "0" "00430" "ACTA1_000154" "g.229567684del" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "rs59228224" "0" "" "" "g.229431937del" "" "benign" "ACMG"
"0000172670" "0" "15" "1" "229567667" "229567667" "dup" "0" "00430" "ACTA1_000237" "g.229567667dup" "" "" "" "809-15dupC" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229431920dup" "" "benign" ""
"0000172671" "0" "15" "1" "229567663" "229567663" "subst" "0.19494" "00430" "ACTA1_000155" "g.229567663C>G" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "rs6673359" "0" "" "" "g.229431916C>G" "" "benign" "ACMG"
"0000172672" "0" "55" "1" "229567624" "229567624" "subst" "0" "00430" "ACTA1_000238" "g.229567624C>A" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229431877C>A" "" "VUS" ""
"0000172673" "0" "15" "1" "229567384" "229567384" "subst" "0.00431693" "00430" "ACTA1_000147" "g.229567384G>T" "" "" "" "" "from website {DBsub-Emory}" "Unknown" "" "" "0" "" "" "g.229431637G>T" "" "benign" ""
"0000172674" "0" "99" "1" "229568615" "229568615" "subst" "0" "00490" "ACTA1_000239" "g.229568615C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432868C>G" "" "pathogenic" ""
"0000172675" "20" "77" "1" "229567812" "229567812" "subst" "0" "00526" "ACTA1_000240" "g.229567812T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432065T>G" "" "likely pathogenic" ""
"0000172676" "0" "99" "1" "229568042" "229568042" "subst" "0" "00464" "ACTA1_000241" "g.229568042C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432295C>A" "" "pathogenic" ""
"0000172677" "0" "95" "1" "229567810" "229567810" "subst" "0" "00464" "ACTA1_000242" "g.229567810C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432063C>T" "" "pathogenic" ""
"0000172678" "0" "77" "1" "229567533" "229567533" "subst" "0" "00540" "ACTA1_000243" "g.229567533G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431786G>A" "" "likely pathogenic" ""
"0000172679" "0" "77" "1" "229567634" "229567634" "subst" "0" "00464" "ACTA1_000244" "g.229567634C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229431887C>G" "" "likely pathogenic" ""
"0000172680" "3" "77" "1" "229568173" "229568173" "subst" "0" "01973" "ACTA1_000245" "g.229568173C>G" "" "{PMID:O\'Grady 2015:25182138}" "" "" "" "Germline" "" "" "0" "" "" "g.229432426C>G" "" "pathogenic (recessive)" ""
"0000172681" "0" "99" "1" "229568751" "229568751" "subst" "0" "00491" "ACTA1_000246" "g.229568751C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229433004C>T" "" "pathogenic" ""
"0000172682" "0" "77" "1" "229567379" "229567379" "subst" "0" "00491" "ACTA1_000247" "g.229567379G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431632G>A" "" "likely pathogenic" ""
"0000172683" "0" "77" "1" "229567306" "229567306" "subst" "0" "00491" "ACTA1_000248" "g.229567306C>A" "" "{PMID:Gatayama 2013:23650303}" "" "" "" "Unknown" "" "" "0" "" "" "g.229431559C>A" "" "likely pathogenic" ""
"0000172684" "0" "77" "1" "229567640" "229567640" "subst" "0" "00491" "ACTA1_000249" "g.229567640G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431893G>C" "" "likely pathogenic" ""
"0000172685" "0" "99" "1" "229567304" "229567304" "subst" "0" "00491" "ACTA1_000250" "g.229567304A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229431557A>G" "" "pathogenic" ""
"0000172686" "0" "99" "1" "229568077" "229568077" "subst" "0" "00491" "ACTA1_000251" "g.229568077C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432330C>A" "" "pathogenic" ""
"0000172687" "0" "77" "1" "229567478" "229567478" "subst" "0" "00491" "ACTA1_000252" "g.229567478A>T" "" "" "" "c.980T>A (p.M327K)" "Published as both c.980T>A (p.Met327Lys) in the text and c.981T>A (p.M326K) in the table" "Unknown" "" "" "0" "" "" "g.229431731A>T" "" "likely pathogenic" ""
"0000172688" "0" "75" "1" "229567783" "229567783" "subst" "0" "00464" "ACTA1_000253" "g.229567783G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.229432036G>C" "" "likely pathogenic" ""
"0000172689" "0" "95" "1" "229568076" "229568076" "subst" "0" "00464" "ACTA1_000169" "g.229568076T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432329T>C" "" "pathogenic" ""
"0000172690" "0" "79" "1" "229568518" "229568518" "subst" "0" "00491" "ACTA1_000254" "g.229568518T>C" "" "" "" "" "not in ExAc database (22.12.14)" "De novo" "" "" "0" "" "" "g.229432771T>C" "" "likely pathogenic" ""
"0000172691" "3" "97" "1" "229567800" "229567800" "subst" "0" "00491" "ACTA1_000255" "g.229567800A>G" "" "" "" "" "Variant seen as homozygous in two sibs, brother and sister, diagnosed with myofibrillar myopathy. Parents DNA not stated to have been analysed" "Unknown" "" "" "0" "" "" "g.229432053A>G" "" "pathogenic" ""
"0000172692" "0" "99" "1" "229568317" "229568322" "dup" "0" "00491" "ACTA1_000048" "g.229568317_229568322dup" "" "{PMID:Sparrow et al, 2003:12921789}" "" "436_441dup" "" "Germline" "" "" "0" "" "" "g.229432570_229432575dup" "" "pathogenic" ""
"0000172693" "21" "99" "1" "229568309" "229568309" "subst" "0" "00491" "ACTA1_000256" "g.229568309T>C" "" "" "" "" "Mother has very low level somatic mosaicism" "Germline" "" "" "0" "" "" "g.229432562T>C" "" "pathogenic" ""
"0000172694" "11" "99" "1" "229566992" "229568874" "" "0" "00491" "ACTA1_000258" "g.(?_229566992)_(229568874_?)del" "" "{PMID: Friedman et al 2014:24447884}" "" "" "Deletion including at least exons 2 to 7 (all the coding exons) of ACTA1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000172695" "21" "99" "1" "229567552" "229567552" "del" "0" "00491" "ACTA1_000257" "g.229567552del" "" "{PMID:Friedman et al 2014:24447884}" "" "" "" "Germline" "" "" "0" "" "" "g.229431805del" "" "pathogenic" ""
"0000172696" "0" "99" "1" "229568022" "229568022" "subst" "0" "00491" "ACTA1_000259" "g.229568022G>A" "" "{25088345: Castiglioni et al 2014}" "" "" "Variant not in dbSNP132, ESP6500, or in 1000 GENOMES" "De novo" "" "" "0" "" "" "g.229432275G>A" "" "pathogenic" ""
"0000172697" "0" "99" "1" "229568754" "229568754" "subst" "0" "00491" "ACTA1_000202" "g.229568754C>A" "" "{PMID:Laing et al, 2009:19562689}" "" "" "" "De novo" "" "" "0" "" "" "g.229433007C>A" "" "pathogenic" ""
"0000172698" "0" "97" "1" "229568609" "229568609" "subst" "0" "00491" "ACTA1_000260" "g.229568609C>A" "" "" "" "Not published" "Variant described in email from Dr Hayashi 8.10.13" "Germline" "" "" "0" "" "" "g.229432862C>A" "" "pathogenic" ""
"0000172699" "0" "77" "1" "229568582" "229568582" "subst" "0" "00491" "ACTA1_000261" "g.229568582C>T" "" "" "" "" "Email from Francesco Muntoni 8.7.13" "De novo" "" "" "0" "" "" "g.229432835C>T" "" "likely pathogenic" ""
"0000172700" "0" "99" "1" "229568327" "229568327" "subst" "0" "00491" "ACTA1_000197" "g.229568327G>A" "" "{PMID:Chou et al 2013:23102861}" "" "" "" "De novo" "" "" "0" "" "" "g.229432580G>A" "" "pathogenic" ""
"0000172701" "0" "97" "1" "229567570" "229567570" "subst" "0" "00491" "ACTA1_000262" "g.229567570A>C" "" "" "" "" "Homozygous" "Unknown" "" "" "0" "" "" "g.229431823A>C" "" "pathogenic" ""
"0000172702" "0" "77" "1" "229568097" "229568097" "subst" "0" "00491" "ACTA1_000263" "g.229568097C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432350C>A" "" "likely pathogenic" ""
"0000172703" "0" "99" "1" "229567741" "229567741" "subst" "0" "00491" "ACTA1_000102" "g.229567741C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229431994C>G" "" "pathogenic" ""
"0000172704" "21" "55" "1" "229567371" "229567371" "subst" "0" "00491" "ACTA1_000265" "g.229567371G>C" "" "" "" "" "Variant inherited from apparently healthy elderly mother" "Germline" "" "" "0" "" "" "g.229431624G>C" "" "VUS" ""
"0000172705" "0" "75" "1" "229568780" "229568780" "subst" "0" "00491" "ACTA1_000266" "g.229568780G>T" "" "" "" "" "Not present in ExAC (15.8.15) but p.(Ala28Gly) and p.(Ala28Ser) are both present at 1:119,000 alleles. Other members of family not yet analysed." "Unknown" "" "" "0" "" "" "g.229433033G>T" "" "likely pathogenic" ""
"0000172706" "0" "77" "1" "229568461" "229568461" "subst" "0" "00491" "ACTA1_000267" "g.229568461G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432714G>C" "" "likely pathogenic" ""
"0000172707" "0" "75" "1" "229568314" "229568314" "subst" "0" "00491" "ACTA1_000268" "g.229568314C>A" "" "" "" "" "Testing other familiy members not done yet" "Unknown" "" "" "0" "" "" "g.229432567C>A" "" "likely pathogenic" ""
"0000172735" "0" "59" "1" "229567252" "229567252" "subst" "0" "00491" "ACTA1_000280" "g.229567252G>T" "" "" "" "" "20 weeks gestation gradually developing polyhydramnios, contractures with fixed position of all joints (severe talipes, fixed and extended knee and hip joints, severely flexed and fixed wrist joints and elbows). intrauterine fetal death at 30 weeks with fetal hydrops" "De novo" "" "" "0" "" "" "g.229431505G>T" "" "likely pathogenic" ""
"0000172736" "0" "59" "1" "229568407" "229568407" "subst" "0" "00491" "ACTA1_000033" "g.229568407T>C" "" "{PMID:Yang et al:27357517}" "" "" "" "De novo" "yes" "" "0" "" "" "g.229432660T>C" "" "likely pathogenic" ""
"0000172737" "0" "55" "1" "229568308" "229568308" "subst" "0" "00491" "ACTA1_000281" "g.229568308G>A" "" "{PMID:Kawase et al:24787270}" "" "" "" "Unknown" "" "" "0" "" "" "g.229432561G>A" "" "VUS" ""
"0000172739" "0" "59" "1" "229567372" "229567372" "subst" "0" "00491" "ACTA1_000282" "g.229567372C>G" "" "" "" "" "Patient is mosaic for variant" "De novo" "" "" "0" "" "" "g.229431625C>G" "" "pathogenic" ""
"0000172740" "0" "59" "1" "229568474" "229568474" "subst" "0" "00491" "ACTA1_000283" "g.229568474C>T" "" "" "" "" "Reported by PathWest Laboratory Services, Department of Health, Western Australia\r\nVariant designated as Class 4 in the report" "Unknown" "" "" "0" "" "" "g.229432727C>T" "" "likely pathogenic (dominant)" ""
"0000172741" "0" "99" "1" "229568317" "229568317" "subst" "0" "00491" "ACTA1_000284" "g.229568317G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432570G>T" "" "pathogenic" ""
"0000172883" "0" "99" "1" "229568419" "229568419" "subst" "0" "00491" "ACTA1_000030" "g.229568419T>C" "" "{PMID:Ladha et al 2008:18487519}" "" "Asn111Ser" "This variant published as Asn111Ser" "Unknown" "" "" "0" "" "" "g.229432672T>C" "" "pathogenic" ""
"0000172886" "0" "99" "1" "229567337" "229567337" "subst" "0" "00491" "ACTA1_000285" "g.229567337A>T" "" "{PMID:Sewry :25747004}" "" "1043T Leu348Gln" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.229431590A>T" "" "pathogenic" ""
"0000172920" "0" "99" "1" "229567789" "229567789" "subst" "0" "00491" "ACTA1_000286" "g.229567789T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229432042T>G" "" "pathogenic" ""
"0000172921" "0" "99" "1" "229568847" "229568847" "subst" "0" "00491" "ACTA1_000002" "g.229568847C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229433100C>T" "" "pathogenic" ""
"0000172922" "0" "55" "1" "229567903" "229567903" "subst" "0" "00491" "ACTA1_000287" "g.229567903C>G" "" "" "" "" "Variant inherited from unaffected parent, therefore pathogenicity uncertain" "Germline" "" "" "0" "" "" "g.229432156C>G" "" "VUS" ""
"0000172923" "0" "99" "1" "229568475" "229568475" "subst" "0" "00491" "ACTA1_000288" "g.229568475G>T" "" "{PMID:Donkervoort et al, 2017:28416349}" "" "" "Muscle pathology shows cytoplasmic bodies, with no signs of nemaline rods." "Unknown" "" "" "0" "" "" "g.229432728G>T" "" "pathogenic" ""
"0000172924" "0" "99" "1" "229568475" "229568475" "subst" "0" "00491" "ACTA1_000288" "g.229568475G>T" "" "{PMID:Donkervoort et al, 2017:28416349}" "" "" "" "De novo" "" "" "0" "" "" "g.229432728G>T" "" "pathogenic" ""
"0000172925" "0" "99" "1" "229568542" "229568542" "subst" "0" "00491" "ACTA1_000216" "g.229568542G>C" "" "{PMID:Chae et al, 2015:25635128}" "" "" "" "De novo" "" "" "0" "" "" "g.229432795G>C" "" "pathogenic" ""
"0000172926" "0" "99" "1" "229568410" "229568410" "subst" "0" "00491" "ACTA1_000289" "g.229568410G>A" "" "{PMID:Chae et al, 2015:25635128}" "" "" "" "De novo" "" "" "0" "" "" "g.229432663G>A" "" "pathogenic" ""
"0000172979" "0" "99" "1" "229568614" "229568614" "subst" "0" "00491" "ACTA1_000015" "g.229568614C>T" "" "{PMID:Stehlikova et al, 2017:27447704}" "" "" "" "De novo" "" "" "0" "" "" "g.229432867C>T" "" "pathogenic" ""
"0000172980" "0" "99" "1" "229568061" "229568061" "subst" "0" "00491" "ACTA1_000290" "g.229568061A>G" "" "{PMID:Stehlikova et al, 2017:27447704}" "" "" "" "De novo" "" "" "0" "" "" "g.229432314A>G" "" "pathogenic" ""
"0000172981" "0" "99" "1" "229567637" "229567637" "subst" "0" "00491" "ACTA1_000291" "g.229567637G>A" "" "{PMID:Stehlikova et al, 2017:27447704}" "" "" "" "De novo" "" "" "0" "" "" "g.229431890G>A" "" "pathogenic" ""
"0000173839" "11" "55" "1" "229568104" "229568104" "subst" "0" "00491" "ACTA1_000292" "g.229568104T>C" "" "" "" "" "c.529A>G variant also seen in unaffected father with no sign of mosaicism in peripheral blood DNA of the father. Pathogenicity of this variant is therefore uncertain. Perhaps benign. Perhaps dominant with reduced penetrance. Perhaps recessive with other variant not identified. Requires other cases of controls with this variant to be more certain of the pathogenicity. Variant not present in ExAC or gnomAD." "Germline" "no" "" "0" "" "" "g.229432357T>C" "" "VUS" ""
"0000174625" "0" "75" "1" "229567569" "229567569" "subst" "0" "02178" "ACTA1_000293" "g.229567569C>T" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.229431822C>T" "" "VUS" ""
"0000188111" "0" "99" "1" "229568504" "229568504" "subst" "0" "01183" "ACTA1_000026" "g.229568504C>T" "" "publication in prep" "" "" "" "Germline" "yes" "" "0" "" "" "g.229432757C>T" "" "pathogenic" ""
"0000188115" "0" "99" "1" "229567590" "229567590" "subst" "0" "00491" "ACTA1_000294" "g.229567590C>G" "" "{PMID:Ueda et al. 2017:28516742}" "" "" "" "De novo" "-" "" "0" "" "" "g.229431843C>G" "" "pathogenic" ""
"0000235011" "0" "99" "1" "229568803" "229568803" "subst" "0" "00491" "ACTA1_000295" "g.229568803T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229433056T>G" "" "pathogenic" ""
"0000235012" "0" "99" "1" "229567924" "229567924" "subst" "0" "00491" "ACTA1_000296" "g.229567924C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.229432177C>T" "" "pathogenic" ""
"0000251211" "0" "10" "1" "229568632" "229568632" "subst" "0.207492" "02326" "ACTA1_000151" "g.229568632A>G" "" "" "" "ACTA1(NM_001100.3):c.130-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432885A>G" "" "benign" ""
"0000260495" "0" "10" "1" "229568637" "229568637" "subst" "0.188242" "02326" "ACTA1_000150" "g.229568637C>G" "" "" "" "ACTA1(NM_001100.3):c.130-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432890C>G" "" "benign" ""
"0000260497" "0" "10" "1" "229567663" "229567663" "subst" "0.19494" "02326" "ACTA1_000155" "g.229567663C>G" "" "" "" "ACTA1(NM_001100.3):c.809-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431916C>G" "" "benign" ""
"0000321346" "0" "50" "1" "229567662" "229567662" "dup" "0" "01804" "ACTA1_000298" "g.229567662dup" "" "" "" "ACTA1(NM_001100.3):c.809-12_809-11insC (p.(=)), ACTA1(NM_001100.3):c.809-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431915dup" "" "VUS" ""
"0000321349" "0" "55" "1" "229567765" "229567765" "subst" "0" "01804" "ACTA1_000299" "g.229567765T>G" "" "" "" "ACTA1(NM_001100.3):c.784A>C (p.(Thr262Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432018T>G" "" "VUS" ""
"0000337541" "0" "30" "1" "229567226" "229567226" "subst" "1.21834E-5" "02327" "ACTA1_000301" "g.229567226G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431479G>C" "" "likely benign" ""
"0000337542" "0" "90" "1" "229567467" "229567467" "subst" "1.21851E-5" "02327" "ACTA1_000142" "g.229567467C>A" "" "" "" "ACTA1(NM_001100.3):c.990+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431720C>A" "" "pathogenic" ""
"0000337544" "0" "10" "1" "229567663" "229567663" "subst" "0.19494" "02327" "ACTA1_000155" "g.229567663C>G" "" "" "" "ACTA1(NM_001100.3):c.809-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431916C>G" "" "benign" ""
"0000337547" "0" "10" "1" "229568632" "229568632" "subst" "0.207492" "02327" "ACTA1_000151" "g.229568632A>G" "" "" "" "ACTA1(NM_001100.3):c.130-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432885A>G" "" "benign" ""
"0000337548" "0" "10" "1" "229568637" "229568637" "subst" "0.188242" "02327" "ACTA1_000150" "g.229568637C>G" "" "" "" "ACTA1(NM_001100.3):c.130-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432890C>G" "" "benign" ""
"0000337549" "0" "10" "1" "229569803" "229569803" "subst" "0" "02327" "ACTA1_000270" "g.229569803A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229434056A>G" "" "benign" ""
"0000337550" "0" "10" "1" "229569804" "229569804" "subst" "0" "02327" "ACTA1_000271" "g.229569804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229434057G>A" "" "benign" ""
"0000343850" "0" "90" "1" "229568475" "229568475" "subst" "0" "02327" "ACTA1_000027" "g.229568475G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432728G>C" "" "pathogenic" ""
"0000345177" "0" "70" "1" "229568127" "229568127" "subst" "0" "02327" "ACTA1_000305" "g.229568127T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432380T>C" "" "likely pathogenic" ""
"0000345233" "0" "50" "1" "229567922" "229567922" "subst" "0" "02327" "ACTA1_000080" "g.229567922C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432175C>G" "" "VUS" ""
"0000345261" "0" "90" "1" "229567867" "229567867" "subst" "0" "02327" "ACTA1_000172" "g.229567867C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432120C>G" "" "pathogenic" ""
"0000345760" "0" "90" "1" "229568819" "229568819" "subst" "0" "02327" "ACTA1_000225" "g.229568819C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229433072C>T" "" "pathogenic" ""
"0000346046" "0" "50" "1" "229568750" "229568750" "subst" "0" "02327" "ACTA1_000007" "g.229568750C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229433003C>G" "" "VUS" ""
"0000348388" "0" "90" "1" "229567376" "229567376" "subst" "0" "02327" "ACTA1_000302" "g.229567376G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229431629G>A" "" "pathogenic" ""
"0000350394" "0" "50" "1" "229567918" "229567918" "subst" "0" "02327" "ACTA1_000304" "g.229567918C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432171C>T" "" "VUS" ""
"0000350553" "0" "90" "1" "229568624" "229568624" "subst" "0" "02327" "ACTA1_000013" "g.229568624C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229432877C>A" "" "pathogenic" ""
"0000446114" "0" "90" "1" "229567379" "229567379" "subst" "0" "03159" "ACTA1_000306" "g.229567379G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229431632G>C" "" "pathogenic" ""
"0000459066" "10" "77" "1" "229567782" "229567782" "subst" "0" "02588" "ACTA1_000307" "g.229567782C>T" "" "{PMID:Reza 2018:30354303}" "" "" "" "Germline" "" "" "0" "" "" "g.229432035C>T" "" "likely pathogenic" ""
"0000469120" "0" "97" "1" "229568614" "229568614" "subst" "0" "00491" "ACTA1_000308" "g.229568614C>G" "" "{PMID: Tadokoro et al 2018:30195123}" "" "" "" "De novo" "-" "" "0" "" "" "g.229432867C>G" "" "likely pathogenic" ""
"0000505860" "0" "50" "1" "229567517" "229567517" "subst" "0" "02327" "ACTA1_000309" "g.229567517C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229431770C>A" "" "VUS" ""
"0000505861" "0" "30" "1" "229567591" "229567591" "subst" "4.87892E-5" "02326" "ACTA1_000310" "g.229567591G>A" "" "" "" "ACTA1(NM_001100.3):c.867C>T (p.I289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229431844G>A" "" "likely benign" ""
"0000505862" "0" "10" "1" "229567662" "229567662" "dup" "0" "02326" "ACTA1_000298" "g.229567662dup" "" "" "" "ACTA1(NM_001100.3):c.809-12_809-11insC (p.(=)), ACTA1(NM_001100.3):c.809-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229431915dup" "" "benign" ""
"0000505863" "0" "30" "1" "229567667" "229567667" "dup" "0" "01804" "ACTA1_000237" "g.229567667dup" "" "" "" "ACTA1(NM_001100.3):c.809-15dup (p.(=)), ACTA1(NM_001100.3):c.809-15dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229431920dup" "" "likely benign" ""
"0000505864" "0" "90" "1" "229567834" "229567834" "subst" "0" "02327" "ACTA1_000223" "g.229567834C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229432087C>T" "" "pathogenic" ""
"0000505865" "0" "90" "1" "229567862" "229567862" "subst" "0" "02327" "ACTA1_000086" "g.229567862C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229432115C>T" "" "pathogenic" ""
"0000505866" "0" "70" "1" "229568023" "229568023" "subst" "0" "01943" "ACTA1_000311" "g.229568023T>G" "" "" "" "ACTA1(NM_001100.3):c.610A>C (p.T204P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229432276T>G" "" "likely pathogenic" ""
"0000505867" "0" "70" "1" "229568034" "229568034" "subst" "0" "02327" "ACTA1_000312" "g.229568034T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229432287T>G" "" "likely pathogenic" ""
"0000646755" "3" "70" "1" "229568173" "229568173" "subst" "0" "00006" "ACTA1_000245" "g.229568173C>G" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.229432426C>G" "" "likely pathogenic (recessive)" ""
"0000646764" "1" "70" "1" "229567535" "229567535" "subst" "0" "00006" "ACTA1_000230" "g.229567535T>C" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.229431788T>C" "" "likely pathogenic (recessive)" ""
"0000646782" "1" "50" "1" "229568416" "229568416" "subst" "0" "00006" "ACTA1_000314" "g.229568416G>A" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.229432669G>A" "" "VUS" ""
"0000653559" "0" "70" "1" "229568393" "229568393" "subst" "0" "01164" "ACTA1_000315" "g.229568393T>G" "" "PMID: 19562689 for p.(Thr122Ser)" "" "" "ACMG: class 4: PS2_MOD, PM2_SUP, PM5, PP3 reclassified to class 4 after segregation analysis confirmed de novo status" "De novo" "?" "" "0" "" "" "g.229432646T>G" "" "likely pathogenic (dominant)" "ACMG"
"0000675309" "0" "70" "1" "229568317" "229568317" "subst" "0" "00534" "ACTA1_000284" "g.229568317G>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.229432570G>T" "" "likely pathogenic (dominant)" "ACMG"
"0000675329" "0" "90" "1" "229568537" "229568537" "subst" "0" "00534" "ACTA1_000020" "g.229568537C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.229432790C>T" "" "pathogenic (dominant)" "ACMG"
"0000675695" "0" "70" "1" "229568518" "229568518" "subst" "0" "01943" "ACTA1_000316" "g.229568518T>G" "" "" "" "ACTA1(NM_001100.3):c.239A>C (p.N80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000688051" "0" "90" "1" "229568411" "229568411" "subst" "0" "02327" "ACTA1_000031" "g.229568411C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000697285" "0" "70" "1" "229567826" "229567826" "subst" "0" "00006" "ACTA1_000317" "g.229567826G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.229432079G>T" "" "likely pathogenic" ""
"0000697286" "0" "70" "1" "229568317" "229568317" "subst" "0" "00006" "ACTA1_000318" "g.229568317G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.229432570G>A" "" "likely pathogenic" ""
"0000715042" "0" "70" "1" "229568531" "229568531" "subst" "0" "01807" "ACTA1_000319" "g.229568531C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000717253" "0" "90" "1" "229568140" "229568140" "subst" "0" "01804" "ACTA1_000056" "g.229568140C>G" "" "" "" "ACTA1(NM_001100.3):c.493G>C (p.(Val165Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717254" "0" "70" "1" "229568741" "229568741" "subst" "0" "02327" "ACTA1_000320" "g.229568741C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000763084" "0" "99" "1" "229567792" "229567792" "subst" "0" "03755" "ACTA1_000321" "g.229567792C>G" "" "{PMID:Liewluck 2017:28606400}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000763366" "11" "99" "1" "229568608" "229568608" "subst" "0" "03755" "ACTA1_000322" "g.229568608C>T" "" "{PMID:Liewluck 2019:30987788}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000763367" "10" "99" "1" "229568609" "229568609" "subst" "0" "03755" "ACTA1_000323" "g.229568609C>T" "" "{PMID:Garibaldi 2021:33384202}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000787188" "3" "50" "1" "229567919" "229567919" "subst" "0" "00006" "ACTA1_000325" "g.229567919G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.229432172G>C" "" "VUS" ""
"0000787189" "0" "50" "1" "229567274" "229567274" "subst" "0" "00006" "ACTA1_000324" "g.229567274G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.229431527G>T" "" "VUS" ""
"0000810845" "0" "79" "1" "229567374" "229567374" "subst" "0" "03755" "ACTA1_000211" "g.229567374C>T" "" "" "" "" "This variant previously described in a Japanese patient but the parents of the Japanese patient were not analysed so not certain that the variant had arisen de novo, whereas in this family that has been shown. The variant is therefore pathogenic." "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "other"
"0000818396" "0" "77" "1" "229567475" "229567477" "del" "0" "03755" "ACTA1_000205" "g.229567475_229567477del" "" "{PMID:Yang 2021:34596777}" "" "983-985delAGA (Lys328_Ile329delinsIle)" "" "De novo" "yes" "" "0" "" "" "g.229431728_229431730del" "" "pathogenic" ""
"0000832690" "0" "90" "1" "229568537" "229568537" "subst" "0" "03779" "ACTA1_000329" "g.229568537C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs727503798" "0" "" "" "" "" "pathogenic" ""
"0000832979" "1" "70" "1" "229567533" "229567533" "subst" "0" "00006" "ACTA1_000243" "g.229567533G>A" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PM1, PM2, PM6, PP2, PP3" "Germline" "" "" "0" "" "" "g.229431786G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000832980" "1" "70" "1" "229567777" "229567777" "subst" "0" "00006" "ACTA1_000326" "g.229567777G>C" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3" "Germline" "" "" "0" "" "" "g.229432030G>C" "" "likely pathogenic (dominant)" "ACMG"
"0000833088" "1" "70" "1" "229567777" "229567777" "subst" "0" "00006" "ACTA1_000326" "g.229567777G>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.229432030G>C" "" "likely pathogenic" ""
"0000833092" "1" "70" "1" "229567533" "229567533" "subst" "0" "00006" "ACTA1_000243" "g.229567533G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.229431786G>A" "" "likely pathogenic" ""
"0000833126" "1" "70" "1" "229568440" "229568440" "subst" "0" "00006" "ACTA1_000328" "g.229568440A>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.229432693A>G" "" "likely pathogenic" ""
"0000833190" "2" "70" "1" "229568015" "229568015" "subst" "0" "00006" "ACTA1_000327" "g.229568015A>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.229432268A>G" "" "likely pathogenic" ""
"0000837175" "0" "90" "1" "229567374" "229567374" "subst" "0" "04254" "ACTA1_000211" "g.229567374C>T" "" "" "" "" "Not detected in either parents" "De novo" "yes" "" "0" "" "" "g.229431627C>T" "" "pathogenic" ""
"0000857330" "0" "30" "1" "229567384" "229567384" "subst" "0.00431693" "01804" "ACTA1_000147" "g.229567384G>T" "" "" "" "ACTA1(NM_001100.3):c.996C>A (p.(Ile332=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857331" "0" "30" "1" "229568304" "229568304" "subst" "0.00241524" "01804" "ACTA1_000145" "g.229568304G>T" "" "" "" "ACTA1(NM_001100.3):c.453C>A (p.(Thr151=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000876808" "0" "90" "1" "229568355" "229568355" "subst" "0" "03652" "ACTA1_000039" "g.229568355C>T" "" "" "" "" "mother negative, father not available" "Unknown" "" "" "0" "" "" "g.229432608C>T" "" "pathogenic" "ACMG"
"0000880808" "0" "70" "1" "229568092" "229568092" "subst" "0" "00006" "ACTA1_000063" "g.229568092C>G" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "" "ACMG PM2 PP2 PP3 PS4_sup PP4" "Germline" "" "" "0" "" "" "g.229432345C>G" "" "likely pathogenic" "ACMG"
"0000880809" "0" "50" "1" "229568632" "229568632" "subst" "0" "00006" "ACTA1_000331" "g.229568632A>T" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "" "ACMG PM2 PP2 PP3 PP4" "De novo" "" "" "0" "" "" "g.229432885A>T" "" "VUS" "ACMG"
"0000880810" "0" "70" "1" "229568155" "229568155" "subst" "0" "00006" "ACTA1_000330" "g.229568155C>T" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "" "ACMG PM2 PP2 PP3 PS4_sup PP4" "Germline" "" "" "0" "" "" "g.229432408C>T" "" "likely pathogenic" "ACMG"
"0000880811" "0" "70" "1" "229568155" "229568155" "subst" "0" "00006" "ACTA1_000330" "g.229568155C>T" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "(Arg198His)" "ACMG PM2 PP2 PP3 PS4_sup PP4" "Germline" "" "" "0" "" "" "g.229432408C>T" "" "likely pathogenic" "ACMG"
"0000880812" "0" "70" "1" "229567604" "229567604" "subst" "0" "00006" "ACTA1_000110" "g.229567604A>C" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "(Met283Arg)" "ACMG PM2 PP2 PP3 PS4_sup PP4" "Germline" "" "" "0" "" "" "g.229431857A>C" "" "likely pathogenic" "ACMG"
"0000883199" "0" "70" "1" "229567261" "229567261" "subst" "0" "02327" "ACTA1_000332" "g.229567261G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883200" "0" "70" "1" "229568453" "229568453" "subst" "0" "02329" "ACTA1_000333" "g.229568453C>T" "" "" "" "ACTA1(NM_001100.4):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883201" "0" "50" "1" "229568621" "229568621" "subst" "0" "02327" "ACTA1_000334" "g.229568621T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883202" "0" "30" "1" "229568718" "229568718" "subst" "0.00108445" "01804" "ACTA1_000335" "g.229568718G>A" "" "" "" "ACTA1(NM_001100.3):c.129+16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000909215" "21" "70" "1" "229568531" "229568531" "subst" "0" "00006" "ACTA1_000319" "g.229568531C>G" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.229432784C>G" "" "likely pathogenic (dominant)" ""
"0000909237" "0" "70" "1" "229568531" "229568531" "subst" "0" "00006" "ACTA1_000319" "g.229568531C>G" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "mosaicism" "Somatic" "" "" "0" "" "" "g.229432784C>G" "" "likely pathogenic (recessive)" ""
"0000918455" "0" "70" "1" "229568404" "229568404" "subst" "0" "01164" "ACTA1_000035" "g.229568404C>T" "" "PMID: 12921789; 19562689" "" "" "ACMG: PP3_STR, PS2_MOD, PM2_SUP, PP2; confirmed de novo in trio-exome" "De novo" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000920717" "0" "70" "1" "229567377" "229567377" "subst" "0" "01164" "ACTA1_000336" "g.229567377G>A" "" "" "" "" "ACMG: PS2_MOD, PM5, PP3_MOD, PM2_SUP, PP2; confirmed de novo in mosaic constellation (VAF: 10% in blood). p.Pro335Gln and p.Pro335Leu described as pathogenic." "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000931941" "1" "50" "1" "229567804" "229567804" "subst" "4.07784E-6" "00006" "ACTA1_000337" "g.229567804C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.229432057C>T" "" "VUS" ""
"0000934136" "0" "90" "1" "229567587" "229567587" "subst" "0" "00006" "ACTA1_000112" "g.229567587T>A" "" "{PMID:Moureau-Le Lan 2018:30517146}" "" "" "" "De novo" "" "" "0" "" "" "g.229431840T>A" "" "pathogenic" ""
"0000945970" "0" "90" "1" "229567376" "229567376" "subst" "0" "00006" "ACTA1_000302" "g.229567376G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "De novo" "" "" "0" "" "" "g.229431629G>A" "" "pathogenic (dominant)" ""
"0000945971" "0" "90" "1" "229568475" "229568475" "subst" "0" "00006" "ACTA1_000027" "g.229568475G>C" "" "{PMID:Westra 2019:31127727}" "" "" "" "De novo" "" "" "0" "" "" "g.229432728G>C" "" "pathogenic (dominant)" ""
"0000946120" "0" "50" "1" "229567376" "229567376" "subst" "0" "00006" "ACTA1_000302" "g.229567376G>A" "" "{PMID:Westra 2019:31127727}" "" "" "variant mosaic; KBTBD13 present in healthy mother" "Somatic" "" "" "0" "" "" "g.229431629G>A" "" "VUS" ""
"0000973770" "0" "70" "1" "229567269" "229567269" "subst" "0" "01804" "ACTA1_000338" "g.229567269T>A" "" "" "" "ACTA1(NM_001100.4):c.1111A>T (p.(Ile371Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000990944" "0" "90" "1" "229567467" "229567467" "subst" "1.21851E-5" "01804" "ACTA1_000142" "g.229567467C>A" "" "" "" "ACTA1(NM_001100.3):c.990+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000990945" "0" "70" "1" "229568748" "229568748" "subst" "0" "02327" "ACTA1_000339" "g.229568748G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001007071" "0" "70" "1" "229568302" "229568302" "subst" "0" "01164" "ACTA1_000340" "g.229568302C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.229432555C>T" "" "likely pathogenic (dominant)" "ACMG"
"0001021223" "0" "70" "1" "229568056" "229568056" "subst" "0" "00006" "ACTA1_000341" "g.229568056T>C" "" "{PMID:Mao 2025:39815277}" "" "" "ACMG PM1, PM2, PS2_M, PP2, PP3" "De novo" "" "" "0" "" "" "g.229432309T>C" "" "likely pathogenic (dominant)" "ACMG"
"0001024121" "0" "30" "1" "229567667" "229567667" "dup" "0" "02326" "ACTA1_000237" "g.229567667dup" "" "" "" "ACTA1(NM_001100.3):c.809-15dup (p.(=)), ACTA1(NM_001100.3):c.809-15dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031791" "0" "70" "1" "229567266" "229567266" "subst" "0" "02325" "ACTA1_000342" "g.229567266C>G" "" "" "" "ACTA1(NM_001100.4):c.1114G>C (p.V372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001031792" "0" "50" "1" "229567578" "229567578" "subst" "0" "02326" "ACTA1_000343" "g.229567578C>T" "" "" "" "ACTA1(NM_001100.3):c.880G>A (p.D294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031793" "0" "50" "1" "229568295" "229568295" "subst" "0" "01804" "ACTA1_000344" "g.229568295G>A" "" "" "" "ACTA1(NM_001100.4):c.454+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031794" "0" "50" "1" "229568296" "229568296" "subst" "4.21841E-6" "01804" "ACTA1_000345" "g.229568296C>A" "" "" "" "ACTA1(NM_001100.4):c.454+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ACTA1
## Count = 485
"{{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}}"
"0000061830" "00002013" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(=)" "p.(Arg374Cys)" ""
"0000061831" "00002013" "10" "130" "-10" "130" "-10" "c.130-10G>C" "r.(=)" "p.(=)" ""
"0000061832" "00002013" "10" "130" "-5" "130" "-5" "c.130-5T>C" "r.spl?" "p.(=)" ""
"0000061833" "00002013" "10" "454" "54" "454" "59" "c.454+54_454+59dup" "r.(=)" "p.(=)" ""
"0000061834" "00002013" "10" "455" "-53" "455" "-53" "c.455-53A>C" "r.(=)" "p.(=)" ""
"0000061835" "00002013" "50" "-12" "-61" "-12" "-61" "c.-12-61del" "r.(=)" "p.(=)" ""
"0000061836" "00002013" "50" "809" "-12" "809" "-12" "c.809-12dup" "r.(=)" "p.(=)" "5i"
"0000061837" "00002013" "10" "809" "-14" "809" "-14" "c.809-14G>C" "r.(=)" "p.(=)" ""
"0000061838" "00002013" "10" "809" "-35" "809" "-35" "c.809-35del" "r.(=)" "p.(=)" ""
"0000061839" "00002013" "10" "-65" "0" "-65" "0" "c.-65T>C" "r.(=)" "p.(=)" ""
"0000061840" "00002013" "10" "-66" "0" "-66" "0" "c.-66C>T" "r.(=)" "p.(=)" ""
"0000084588" "00002013" "90" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Val165Leu)" "5"
"0000172349" "00002013" "99" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Asp3Tyr)" "2"
"0000172350" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172351" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172352" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172353" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172354" "00002013" "99" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "2"
"0000172355" "00002013" "99" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "2"
"0000172356" "00002013" "99" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "2"
"0000172357" "00002013" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Asp27Asn)" "2"
"0000172358" "00002013" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Asp27Asn)" "2"
"0000172359" "00002013" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Asp27Asn)" "2"
"0000172360" "00002013" "77" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Lys)" "2"
"0000172361" "00002013" "99" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Gly38Ala)" "2"
"0000172362" "00002013" "99" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Pro40Leu)" "2"
"0000172363" "00002013" "99" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Pro40Leu)" "2"
"0000172364" "00002013" "99" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "2"
"0000172365" "00002013" "99" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(His42Tyr)" "2"
"0000172366" "00002013" "99" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(His42Tyr)" "2"
"0000172367" "00002013" "99" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Gln43Arg)" "2"
"0000172368" "00002013" "99" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Gln43Arg)" "2"
"0000172369" "00002013" "99" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Gly44Val)" "3"
"0000172370" "00002013" "99" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Phe)" "3"
"0000172371" "00002013" "99" "137" "0" "137" "0" "c.137T>C" "r.(?)" "p.(Met46Thr)" "3"
"0000172372" "00002013" "99" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Gly48Asp)" "3"
"0000172373" "00002013" "99" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "3"
"0000172374" "00002013" "99" "197" "0" "197" "0" "c.197T>A" "r.(?)" "p.(Ile66Asn)" "3"
"0000172375" "00002013" "99" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Ile)" "3"
"0000172376" "00002013" "99" "217" "0" "217" "0" "c.217A>T" "r.(?)" "p.(Ile73Phe)" "3"
"0000172377" "00002013" "99" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(His75Leu)" "3"
"0000172378" "00002013" "99" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Gly76Asp)" "3"
"0000172379" "00002013" "99" "229" "0" "229" "0" "c.229A>C" "r.(?)" "p.(Ile77Leu)" "3"
"0000172380" "00002013" "99" "230" "0" "230" "0" "c.230T>G" "r.(?)" "p.(Ile77Ser)" "3"
"0000172381" "00002013" "99" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "3"
"0000172382" "00002013" "99" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "3"
"0000172383" "00002013" "99" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Glu85Lys)" "3"
"0000172384" "00002013" "99" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Asn94Lys)" "3"
"0000172385" "00002013" "99" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "3"
"0000172386" "00002013" "99" "782" "0" "782" "0" "c.782A>T" "r.(?)" "p.(Glu261Val)" "5"
"0000172387" "00002013" "77" "327" "0" "327" "0" "c.327G>C" "r.(?)" "p.(Glu109Asp)" "3"
"0000172388" "00002013" "99" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Asn113Ser)" "3"
"0000172389" "00002013" "99" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Glu74Lys)" "3"
"0000172390" "00002013" "99" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "3"
"0000172391" "00002013" "99" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "3"
"0000172392" "00002013" "99" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "3"
"0000172393" "00002013" "99" "350" "0" "350" "0" "c.350A>C" "r.(?)" "p.(Asn117Thr)" "3"
"0000172394" "00002013" "99" "350" "0" "350" "0" "c.350A>C" "r.(?)" "p.(Asn117Thr)" "3"
"0000172395" "00002013" "99" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "3"
"0000172396" "00002013" "99" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Thr122Ser)" "3"
"0000172397" "00002013" "99" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Ala133Profs*59)" "3"
"0000172398" "00002013" "99" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Met134Val)" "3"
"0000172399" "00002013" "99" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Met134Val)" "3"
"0000172400" "00002013" "99" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Met134Ile)" "3"
"0000172401" "00002013" "99" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "3"
"0000172402" "00002013" "99" "414" "0" "414" "0" "c.414C>G" "r.(?)" "p.(Ile138Met)" "3"
"0000172403" "00002013" "99" "414" "0" "414" "0" "c.414C>G" "r.(?)" "p.(Ile138Met)" "3"
"0000172404" "00002013" "99" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Ile138Thr)" "3"
"0000172405" "00002013" "99" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Gln139His)" "3"
"0000172406" "00002013" "99" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Ala140Pro)" "3"
"0000172407" "00002013" "99" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "3"
"0000172408" "00002013" "99" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Leu142Pro)" "3"
"0000172409" "00002013" "99" "437" "0" "442" "0" "c.437_442dup" "r.(?)" "p.(Ala146_Ser147dup)" "3"
"0000172410" "00002013" "99" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "3"
"0000172411" "00002013" "99" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Ser)" "3"
"0000172412" "00002013" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Lys)" "3"
"0000172413" "00002013" "99" "449" "0" "449" "0" "c.449C>A" "r.(?)" "p.(Thr150Asn)" "3"
"0000172414" "00002013" "99" "449" "0" "449" "0" "c.449C>G" "r.(?)" "p.(Thr150Ser)" "3"
"0000172415" "00002013" "99" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Asp156Asn)" "4"
"0000172416" "00002013" "99" "487" "0" "487" "0" "c.487C>G" "r.(?)" "p.(His163Asp)" "4"
"0000172417" "00002013" "99" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Val165Leu)" "4"
"0000172418" "00002013" "99" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Val165Leu)" "4"
"0000172419" "00002013" "99" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Val165Leu)" "4"
"0000172420" "00002013" "99" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Val165Met)" "4"
"0000172421" "00002013" "99" "515" "0" "515" "0" "c.515C>A" "r.(?)" "p.(Ala172Glu)" "4"
"0000172422" "00002013" "99" "515" "0" "515" "0" "c.515C>A" "r.(?)" "p.(Ala172Glu)" "4"
"0000172423" "00002013" "99" "539" "0" "539" "0" "c.539T>C" "r.(?)" "p.(Leu180Pro)" "4"
"0000172424" "00002013" "99" "515" "0" "515" "0" "c.515C>G" "r.(?)" "p.(Ala172Gly)" "4"
"0000172425" "00002013" "99" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Asp181Asn)" "4"
"0000172426" "00002013" "99" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" "4"
"0000172427" "00002013" "99" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" "4"
"0000172428" "00002013" "99" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" "4"
"0000172429" "00002013" "99" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" "4"
"0000172430" "00002013" "99" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" "4"
"0000172431" "00002013" "99" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Asp181Gly)" "4"
"0000172432" "00002013" "99" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Asp181Thrfs*11)" "4"
"0000172433" "00002013" "99" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Asp181Thrfs*11)" "4"
"0000172434" "00002013" "99" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Asp181Thrfs*11)" "4"
"0000172435" "00002013" "99" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Asp181Thrfs*11)" "4"
"0000172436" "00002013" "99" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Gly184Asp)" "4"
"0000172437" "00002013" "99" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "4"
"0000172438" "00002013" "99" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Arg185Gly)" "4"
"0000172439" "00002013" "99" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Arg185Gly)" "4"
"0000172440" "00002013" "99" "554" "0" "554" "0" "c.554G>T" "r.(?)" "p.(Arg185Leu)" "4"
"0000172441" "00002013" "99" "553" "0" "553" "0" "c.553C>A" "r.(?)" "p.(Arg185Ser)" "4"
"0000172442" "00002013" "99" "553" "0" "553" "0" "c.553C>A" "r.(?)" "p.(Arg185Ser)" "4"
"0000172443" "00002013" "99" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Tyr190*)" "4"
"0000172444" "00002013" "99" "990" "1" "990" "1" "c.990+1G>T" "r.spl?" "p.?" "6i"
"0000172445" "00002013" "99" "579" "0" "579" "0" "c.579G>T" "r.(?)" "p.(Lys193Asn)" "4"
"0000172446" "00002013" "99" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "4"
"0000172447" "00002013" "99" "593" "0" "593" "0" "c.593G>T" "r.(?)" "p.(Arg198Leu)" "4"
"0000172448" "00002013" "99" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "4"
"0000172449" "00002013" "99" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "4"
"0000172450" "00002013" "99" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(Tyr200Cys)" "4"
"0000172451" "00002013" "99" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "4"
"0000172452" "00002013" "99" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "4"
"0000172453" "00002013" "99" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "4"
"0000172454" "00002013" "99" "621" "0" "621" "0" "c.621G>C" "r.(?)" "p.(Glu207Asp)" "5"
"0000172455" "00002013" "55" "210" "0" "210" "0" "c.210G>A" "r.210g>a" "p.=" "3"
"0000172456" "00002013" "55" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Glu209Asp)" "5"
"0000172457" "00002013" "99" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "5"
"0000172458" "00002013" "99" "676" "0" "676" "0" "c.676G>C" "r.(?)" "p.(Glu226Gln)" "5"
"0000172459" "00002013" "99" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Glu226Gly)" "5"
"0000172460" "00002013" "99" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Glu226Gly)" "5"
"0000172461" "00002013" "99" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Met229Val)" "5"
"0000172462" "00002013" "99" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Met229Val)" "5"
"0000172463" "00002013" "99" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Met229Thr)" "5"
"0000172464" "00002013" "99" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Met229Thr)" "5"
"0000172465" "00002013" "99" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Met229Ile)" "5"
"0000172466" "00002013" "99" "687" "0" "687" "0" "c.687G>C" "r.(?)" "p.(Met229Ile)" "5"
"0000172467" "00002013" "99" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Met229Ile)" "5"
"0000172468" "00002013" "99" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Ala232Val)" "5"
"0000172469" "00002013" "99" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Glu243Lys)" "5"
"0000172470" "00002013" "99" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Gly247Arg)" "5"
"0000172471" "00002013" "99" "742" "0" "742" "0" "c.742C>A" "r.(?)" "p.(Gln248Lys)" "5"
"0000172472" "00002013" "99" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Gln248Arg)" "5"
"0000172473" "00002013" "99" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Gly253Asp)" "5"
"0000172474" "00002013" "99" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "5"
"0000172475" "00002013" "99" "773" "0" "773" "0" "c.773G>T" "r.(?)" "p.(Arg258Leu)" "5"
"0000172476" "00002013" "99" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala146Profs*46)" "3"
"0000172477" "00002013" "99" "782" "0" "782" "0" "c.782A>T" "r.(?)" "p.(Glu261Val)" "5"
"0000172478" "00002013" "99" "794" "0" "794" "0" "c.794A>T" "r.(?)" "p.(Gln265Leu)" "5"
"0000172479" "00002013" "99" "796" "0" "796" "0" "c.796C>A" "r.(?)" "p.(Pro266Thr)" "5"
"0000172480" "00002013" "99" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Phe268Leu)" "5"
"0000172481" "00002013" "99" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Ser)" "5"
"0000172482" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172483" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172484" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172485" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172486" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172487" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172488" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172489" "00002013" "99" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "6"
"0000172490" "00002013" "99" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "6"
"0000172491" "00002013" "99" "812" "0" "812" "0" "c.812T>G" "r.(?)" "p.(Met271Arg)" "6"
"0000172492" "00002013" "99" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Ala274Glu)" "6"
"0000172493" "00002013" "99" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Tyr281His)" "6"
"0000172494" "00002013" "99" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Tyr281His)" "6"
"0000172495" "00002013" "99" "846" "0" "846" "0" "c.846C>G" "r.(?)" "p.(Asn282Lys)" "6"
"0000172496" "00002013" "99" "854" "0" "854" "0" "c.854T>A" "r.(?)" "p.(Met285Lys)" "6"
"0000172497" "00002013" "99" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Met285Arg)" "6"
"0000172498" "00002013" "99" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asp288Gly)" "6"
"0000172499" "00002013" "99" "871" "0" "871" "0" "c.871A>T" "r.(?)" "p.(Ile291Phe)" "6"
"0000172500" "00002013" "99" "881" "0" "881" "0" "c.881A>T" "r.(?)" "p.(Asp294Val)" "6"
"0000172501" "00002013" "99" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Pro334Ser)" "7"
"0000172502" "00002013" "99" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "7"
"0000172503" "00002013" "99" "1007" "0" "1007" "0" "c.1007A>C" "r.(?)" "p.(Glu336Ala)" "7"
"0000172504" "00002013" "99" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Lys338Glu)" "7"
"0000172505" "00002013" "99" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(Lys338Ile)" "7"
"0000172506" "00002013" "99" "1031" "0" "1031" "0" "c.1031del" "r.(?)" "p.(Gly344Alafs*77)" "7"
"0000172507" "00002013" "99" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Ser350Leu)" "7"
"0000172508" "00002013" "99" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Phe354Ser)" "7"
"0000172509" "00002013" "99" "1075" "0" "1075" "0" "c.1075A>C" "r.(?)" "p.(Ile359Leu)" "7"
"0000172510" "00002013" "99" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Tyr364*)" "7"
"0000172511" "00002013" "99" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Tyr364*)" "7"
"0000172512" "00002013" "99" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Pro369Leu)" "7"
"0000172513" "00002013" "99" "1111" "0" "1111" "0" "c.1111A>C" "r.(?)" "p.(Ile371Leu)" "7"
"0000172514" "00002013" "99" "1114" "0" "1114" "0" "c.1114G>T" "r.(?)" "p.(Val372Phe)" "7"
"0000172515" "00002013" "99" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Arg374Ser)" "7"
"0000172516" "00002013" "99" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "7"
"0000172517" "00002013" "99" "1123" "0" "1123" "0" "c.1123A>C" "r.(?)" "p.(Lys375Gln)" "7"
"0000172518" "00002013" "99" "1123" "0" "1123" "0" "c.1123A>C" "r.(?)" "p.(Lys375Gln)" "7"
"0000172519" "00002013" "99" "1123" "0" "1123" "0" "c.1123A>C" "r.(?)" "p.(Lys375Gln)" "7"
"0000172520" "00002013" "99" "1123" "0" "1123" "0" "c.1123A>G" "r.(?)" "p.(Lys375Glu)" "7"
"0000172521" "00002013" "99" "1130" "0" "1130" "0" "c.1130T>A" "r.(?)" "p.(Phe377Tyr)" "7"
"0000172522" "00002013" "99" "1130" "0" "1130" "0" "c.1130T>G" "r.(?)" "p.(Phe377Cys)" "7"
"0000172523" "00002013" "99" "1132" "0" "1132" "0" "c.1132T>C" "r.(?)" "p.(*378Glnext*47)" "7"
"0000172524" "00002013" "99" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(*378Trpext*47)" "7"
"0000172525" "00002013" "99" "1134" "0" "1134" "0" "c.1134G>T" "r.(?)" "p.(*378Tyrext*47)" "7"
"0000172526" "00002013" "11" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(=)" "3"
"0000172527" "00002013" "11" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(=)" "4"
"0000172528" "00002013" "11" "996" "0" "996" "0" "c.996C>A" "r.(?)" "p.(=)" "7"
"0000172529" "00002013" "11" "-66" "0" "-65" "0" "c.-66_-65delinsTC" "r.(?)" "p.(=)" "1"
"0000172530" "00002013" "11" "130" "-10" "130" "-10" "c.130-10G>C" "r.(?)" "p.(?)" "2i"
"0000172531" "00002013" "11" "130" "-5" "130" "-5" "c.130-5T>C" "r.(?)" "p.(?)" "2i"
"0000172532" "00002013" "11" "0" "0" "0" "0" "c.454+30_454+59CCCGCC[3_5]" "r.(=)" "p.(=)" "3i"
"0000172533" "00002013" "11" "809" "-35" "809" "-35" "c.809-35del" "r.(=)" "p.(=)" "5i"
"0000172534" "00002013" "11" "455" "-53" "455" "-53" "c.455-53A>C" "r.(?)" "p.(?)" "3i"
"0000172535" "00002013" "11" "809" "-14" "809" "-14" "c.809-14G>C" "r.(?)" "p.(?)" "5i"
"0000172536" "00002013" "11" "809" "-12" "809" "-12" "c.809-12dup" "r.(=)" "p.(=)" "5i"
"0000172537" "00002013" "99" "455" "-1" "455" "-1" "c.455-1G>A" "r.spl?" "p.?" "3i"
"0000172539" "00002013" "99" "616" "1" "616" "1" "c.616+1G>A" "r.spl?" "p.?" "4i"
"0000172540" "00002013" "99" "902" "0" "902" "0" "c.902T>A" "r.(?)" "p.(Met301Lys)" "6"
"0000172541" "00002013" "99" "809" "-1" "809" "-1" "c.809-1G>T" "r.spl?" "p.?" "5i"
"0000172542" "00002013" "99" "809" "-1" "809" "-1" "c.809-1G>T" "r.spl?" "p.?" "5i"
"0000172543" "00002013" "99" "224" "0" "224" "0" "c.224A>G" "r.(?)" "p.(His75Arg)" "3"
"0000172544" "00002013" "99" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Phe268Leu)" "5"
"0000172545" "00002013" "99" "983" "0" "985" "0" "c.983_985del" "r.(?)" "p.(Lys328del)" "6"
"0000172546" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172547" "00002013" "99" "1061" "0" "1061" "0" "c.1061T>A" "r.(?)" "p.(Phe354Tyr)" "7"
"0000172548" "00002013" "99" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "2"
"0000172549" "00002013" "99" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Asp13Asn)" "2"
"0000172550" "00002013" "99" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "2"
"0000172551" "00002013" "99" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "2"
"0000172552" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172553" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172554" "00002013" "99" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Val37Leu)" "2"
"0000172555" "00002013" "99" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "2"
"0000172556" "00002013" "99" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Pro40Leu)" "2"
"0000172557" "00002013" "99" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Gln43Arg)" "2"
"0000172558" "00002013" "99" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Gly48Cys)" "3"
"0000172559" "00002013" "99" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "3"
"0000172560" "00002013" "99" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Ile66Ser)" "3"
"0000172561" "00002013" "99" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Ile73Val)" "3"
"0000172562" "00002013" "99" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Glu85Lys)" "3"
"0000172563" "00002013" "99" "223" "0" "223" "0" "c.223C>A" "r.(?)" "p.(His75Asn)" "3"
"0000172564" "00002013" "99" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239*)" "5"
"0000172565" "00002013" "99" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Asn113Ser)" "3"
"0000172566" "00002013" "99" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Asn113Ser)" "3"
"0000172567" "00002013" "99" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Lys115Glu)" "3"
"0000172568" "00002013" "99" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Tyr145*)" "3"
"0000172569" "00002013" "99" "649" "0" "649" "0" "c.649A>T" "r.(?)" "p.(Lys217*)" "5"
"0000172570" "00002013" "99" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "3"
"0000172571" "00002013" "99" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Ala183Thr)" "4"
"0000172572" "00002013" "99" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "4"
"0000172573" "00002013" "99" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(Asp186Gly)" "4"
"0000172574" "00002013" "99" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "4"
"0000172575" "00002013" "99" "620" "0" "620" "0" "c.620A>G" "r.(?)" "p.(Glu207Gly)" "5"
"0000172576" "00002013" "99" "682" "0" "682" "0" "c.682G>C" "r.(?)" "p.(Glu228Gln)" "5"
"0000172577" "00002013" "99" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Met229Val)" "5"
"0000172578" "00002013" "99" "738" "0" "738" "0" "c.738C>A" "r.(?)" "p.(Asp246Glu)" "5"
"0000172579" "00002013" "99" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Gln248Arg)" "5"
"0000172580" "00002013" "99" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Gly253Asp)" "5"
"0000172581" "00002013" "99" "760" "0" "760" "0" "c.760A>T" "r.(?)" "p.(Asn254Tyr)" "5"
"0000172582" "00002013" "99" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "5"
"0000172583" "00002013" "99" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "5"
"0000172584" "00002013" "99" "800" "0" "800" "0" "c.800C>G" "r.(?)" "p.(Ser267Cys)" "5"
"0000172585" "00002013" "99" "807" "0" "808" "0" "c.807_808delinsAA" "r.(?)" "p.(Gly270Ser)" "5"
"0000172586" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172587" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172588" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172589" "00002013" "99" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Glu272Gln)" "6"
"0000172590" "00002013" "99" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Tyr281His)" "6"
"0000172591" "00002013" "99" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Asp290Asn)" "6"
"0000172592" "00002013" "99" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Arg374Ser)" "7"
"0000172593" "00002013" "79" "1125" "0" "1125" "0" "c.1125A>C" "r.(?)" "p.(Lys375Asn)" "7"
"0000172594" "00002013" "99" "1127" "0" "1127" "0" "c.1127G>C" "r.(?)" "p.(Cys376Ser)" "7"
"0000172595" "00002013" "99" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Pro369Leu)" "7"
"0000172596" "00002013" "99" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Lys70Arg)" "3"
"0000172597" "00002013" "99" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Gly160Cys)" "4"
"0000172598" "00002013" "99" "592" "0" "592" "0" "c.592C>A" "r.(?)" "p.(Arg198Ser)" "4"
"0000172599" "00002013" "99" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "4"
"0000172600" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172601" "00002013" "99" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Met49Val)" "3"
"0000172602" "00002013" "99" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Glu243Lys)" "5"
"0000172603" "00002013" "99" "419" "0" "419" "0" "c.419C>A" "r.(?)" "p.(Ala140Asp)" "3"
"0000172604" "00002013" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Asp27Asn)" "2"
"0000172605" "00002013" "79" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Ala274Glu)" "6"
"0000172606" "00002013" "99" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Leu144Phe)" "3"
"0000172607" "00002013" "99" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Asn94Lys)" "3"
"0000172608" "00002013" "99" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Arg185Gly)" "4"
"0000172609" "00002013" "79" "586" "0" "586" "0" "c.586A>C" "r.(?)" "p.(Thr196Pro)" "4"
"0000172610" "00002013" "99" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Lys70Arg)" "3"
"0000172611" "00002013" "99" "984" "0" "984" "0" "c.984G>C" "r.(?)" "p.(Lys328Asn)" "6"
"0000172612" "00002013" "99" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(His42Tyr)" "2"
"0000172613" "00002013" "99" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "2"
"0000172614" "00002013" "99" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(His42Tyr)" "2"
"0000172615" "00002013" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "5"
"0000172616" "00002013" "79" "617" "-5" "617" "-5" "c.617-5C>A" "r.616_617ins617-3_617-1" "p.Thr205_Ala206insAla" "4i"
"0000172617" "00002013" "99" "1001" "0" "1001" "0" "c.1001C>G" "r.(?)" "p.(Pro334Arg)" "7"
"0000172618" "00002013" "99" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "2"
"0000172619" "00002013" "99" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Thr68Asn)" "3"
"0000172620" "00002013" "99" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Glu255Gly)" "5"
"0000172621" "00002013" "99" "222" "0" "223" "0" "c.222_223delinsTT" "r.(?)" "p.(Glu74_His75delinsAspTyr)" "3"
"0000172622" "00002013" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Pro72Arg)" "3"
"0000172623" "00002013" "99" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Gly152Ala)" "4"
"0000172624" "00002013" "99" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Asp181Asn)" "4"
"0000172625" "00002013" "75" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(His163Tyr)" "4"
"0000172626" "00002013" "75" "809" "-2" "809" "-2" "c.809-2A>T" "r.spl?" "p.(?)" "5i"
"0000172627" "00002013" "95" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "7"
"0000172628" "00002013" "99" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "3"
"0000172629" "00002013" "99" "782" "0" "782" "0" "c.782A>T" "r.(?)" "p.(Glu261Val)" "5"
"0000172630" "00002013" "99" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "3"
"0000172631" "00002013" "99" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "3"
"0000172632" "00002013" "95" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Met49Val)" "3"
"0000172633" "00002013" "57" "360" "0" "360" "0" "c.360G>T" "r.(?)" "p.(Lys120Asn)" "3"
"0000172634" "00002013" "57" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Asp186His)" "4"
"0000172635" "00002013" "57" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "3"
"0000172636" "00002013" "57" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Asp294Tyr)" "6"
"0000172637" "00002013" "79" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.Glu239Lys" "5"
"0000172638" "00002013" "57" "617" "-5" "617" "-5" "c.617-5C>A" "r.spl?" "p.?" "4i"
"0000172639" "00002013" "99" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Phe268Leu)" "5"
"0000172640" "00002013" "95" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Met134Ile)" "3"
"0000172641" "00002013" "95" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "2"
"0000172642" "00002013" "57" "1057" "0" "1057" "0" "c.1057A>G" "r.(?)" "p.(Thr353Ala)" "7"
"0000172643" "00002013" "99" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Asp)" "2"
"0000172644" "00002013" "99" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala146Profs*46)" "3"
"0000172645" "00002013" "99" "990" "1" "990" "1" "c.990+1G>T" "r.spl" "p.?" "6i"
"0000172646" "00002013" "77" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "7"
"0000172647" "00002013" "77" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "3"
"0000172648" "00002013" "77" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.(Met307Arg)" "6"
"0000172649" "00002013" "77" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "2"
"0000172650" "00002013" "95" "682" "0" "682" "0" "c.682G>C" "r.(?)" "p.(Glu228Gln)" "5"
"0000172651" "00002013" "55" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "6"
"0000172652" "00002013" "99" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Arg185Gly)" "4"
"0000172653" "00002013" "99" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Pro72Arg)" "3"
"0000172654" "00002013" "77" "275" "0" "277" "0" "c.275_277del" "r.(?)" "p.(Phe92del)" "3"
"0000172655" "00002013" "97" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Ile)" "3"
"0000172656" "00002013" "77" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Asp290Asn)" "6"
"0000172657" "00002013" "77" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Met229Val)" "5"
"0000172658" "00002013" "77" "598" "0" "598" "0" "c.598T>C" "r.(?)" "p.(Tyr200His)" "4"
"0000172659" "00002013" "75" "1019" "0" "1019" "0" "c.1019C>G" "r.(?)" "p.(Ser340Trp)" "7"
"0000172660" "00002013" "77" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(Leu223Val)" "5"
"0000172661" "00002013" "95" "455" "-1" "455" "-1" "c.455-1G>A" "r.spl" "p.?" "3i"
"0000172662" "00002013" "75" "983" "0" "985" "0" "c.983_985del" "r.(?)" "p.(Lys328del)" "6"
"0000172663" "00002013" "55" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(=)" "2"
"0000172664" "00002013" "55" "129" "31" "129" "31" "c.129+31C>A" "r.(?)" "p.(=)" "2i"
"0000172665" "00002013" "15" "130" "-10" "130" "-10" "c.130-10G>C" "r.(?)" "p.(=)" "2i"
"0000172666" "00002013" "15" "130" "-5" "130" "-5" "c.130-5T>C" "r.(spl?)" "p.(=)" "2i"
"0000172667" "00002013" "77" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Phe)" "3"
"0000172668" "00002013" "77" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Ser)" "3"
"0000172669" "00002013" "15" "809" "-35" "809" "-35" "c.809-35del" "r.(=)" "p.(=)" "5i"
"0000172670" "00002013" "15" "809" "-15" "809" "-15" "c.809-15dup" "r.(?)" "p.(=)" "5i"
"0000172671" "00002013" "15" "809" "-14" "809" "-14" "c.809-14G>C" "r.(?)" "p.(=)" "5i"
"0000172672" "00002013" "55" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Glu278Asp)" "6"
"0000172673" "00002013" "15" "996" "0" "996" "0" "c.996C>A" "r.(?)" "p.(=)" "7"
"0000172674" "00002013" "99" "142" "0" "142" "0" "c.142G>C" "r.(?)" "p.(Gly48Arg)" "3"
"0000172675" "00002013" "77" "737" "0" "737" "0" "c.737A>C" "r.(?)" "p.(Asp246Ala)" "5"
"0000172676" "00002013" "99" "591" "0" "591" "0" "c.591G>T" "r.(?)" "p.(Glu197Asp)" "4"
"0000172677" "00002013" "95" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Gly247Arg)" "5"
"0000172678" "00002013" "77" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" "6"
"0000172679" "00002013" "77" "824" "0" "824" "0" "c.824G>C" "r.(?)" "p.(Gly275Ala)" "6"
"0000172680" "00002013" "77" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Val154Leu)" "3"
"0000172681" "00002013" "99" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Gly38Ser)" "2"
"0000172682" "00002013" "77" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Pro334Leu)" "7"
"0000172683" "00002013" "77" "1074" "0" "1074" "0" "c.1074G>T" "r.(?)" "p.(Trp358Cys)" "7"
"0000172684" "00002013" "77" "818" "0" "818" "0" "c.818C>G" "r.(?)" "p.(Ser273Trp)" "6"
"0000172685" "00002013" "99" "1076" "0" "1076" "0" "c.1076T>C" "r.(?)" "p.(Ile359Thr)" "7"
"0000172686" "00002013" "99" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Asp186Tyr)" "4"
"0000172687" "00002013" "77" "980" "0" "980" "0" "c.980T>A" "r.(?)" "p.(Met327Lys)" "6"
"0000172688" "00002013" "75" "766" "0" "766" "0" "c.766C>G" "r.(?)" "p.(Arg256Gly)" "5"
"0000172689" "00002013" "95" "557" "0" "557" "0" "c.557A>G" "r.(spl?)" "p.(Asp186Gly)" "4"
"0000172690" "00002013" "79" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Asn80Ser)" "3"
"0000172691" "00002013" "97" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Ile250Thr)" "5"
"0000172692" "00002013" "99" "437" "0" "442" "0" "c.437_442dup" "r.(?)" "p.(Ala146_Ser147dup)" "3"
"0000172693" "00002013" "99" "448" "0" "448" "0" "c.448A>G" "r.(?)" "P.(Thr150Ala)" "3"
"0000172694" "00002013" "99" "-12" "0" "1388" "0" "c.(?_-12)_(*254_?)del" "r.0?" "p.0?" "_1_7_"
"0000172695" "00002013" "99" "911" "0" "911" "0" "c.911del" "r.(?)" "p.(Gly304Alafs*24)" "6"
"0000172696" "00002013" "99" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Thr204Ile)" "4"
"0000172697" "00002013" "99" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "2"
"0000172698" "00002013" "97" "148" "0" "148" "0" "c.148G>T" "r.(?)" "p.(Gly50Cys)" "3"
"0000172699" "00002013" "77" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.Glu59Lys" "3"
"0000172700" "00002013" "99" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Leu144Phe)" "3"
"0000172701" "00002013" "97" "888" "0" "888" "0" "c.888T>G" "r.(?)" "p.(Tyr296*)" "6"
"0000172702" "00002013" "77" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Arg179Leu)" "4"
"0000172703" "00002013" "99" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "5"
"0000172704" "00002013" "55" "1009" "0" "1009" "0" "c.1009C>G" "r.(?)" "p.(Arg337Gly)" "7"
"0000172705" "00002013" "75" "83" "0" "83" "0" "c.83C>A" "r.(?)" "p.(Ala28Asp)" "2"
"0000172706" "00002013" "77" "296" "0" "296" "0" "c.296C>G" "r.(?)" "p.(Ala99Gly)" "3"
"0000172707" "00002013" "75" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Gly148Val)" "3"
"0000172735" "00002013" "59" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Cys376*)" "7"
"0000172736" "00002013" "59" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "3"
"0000172737" "00002013" "59" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "3"
"0000172739" "00002013" "00" "1008" "0" "1008" "0" "c.1008G>C" "r.(?)" "p.(Glu336Asp)" "7"
"0000172740" "00002013" "59" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" ""
"0000172741" "00002013" "59" "440" "0" "440" "0" "c.440C>A" "r.(?)" "p.(Ser147Tyr)" ""
"0000172883" "00002013" "99" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Asn113Ser)" "3"
"0000172886" "00002013" "99" "1043" "0" "1043" "0" "c.1043T>A" "r.(?)" "p.(Leu348Gln)" "7"
"0000172920" "00002013" "99" "760" "0" "760" "0" "c.760A>C" "r.(?)" "p.(Asn254His)" "5"
"0000172921" "00002013" "99" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "2"
"0000172922" "00002013" "55" "646" "0" "646" "0" "c.646G>C" "r.(?)" "p.(Glu216Gln)" "5"
"0000172923" "00002013" "99" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(Asn94Lys)" "3"
"0000172924" "00002013" "99" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(Asn94Lys)" "3"
"0000172925" "00002013" "99" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Pro72Arg)" "3"
"0000172926" "00002013" "99" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Ala116Val)" "3"
"0000172979" "00002013" "99" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Gly48Asp)" "3"
"0000172980" "00002013" "99" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "4"
"0000172981" "00002013" "99" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ala274Val)" "6"
"0000173839" "00002013" "55" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Ile177Val)" "4"
"0000174625" "00002013" "75" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Ala297Thr)" "6"
"0000188111" "00002013" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Glu85Lys)" "3"
"0000188115" "00002013" "99" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Asp290His)" "6"
"0000235011" "00002013" "99" "60" "0" "60" "0" "c.60A>C" "r.(?)" "p.(Lys20Asn)" "2"
"0000235012" "00002013" "99" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" ""
"0000251211" "00002013" "10" "130" "-5" "130" "-5" "c.130-5T>C" "r.spl?" "p.?" ""
"0000260495" "00002013" "10" "130" "-10" "130" "-10" "c.130-10G>C" "r.(=)" "p.(=)" ""
"0000260497" "00002013" "10" "809" "-14" "809" "-14" "c.809-14G>C" "r.(=)" "p.(=)" ""
"0000321346" "00002013" "50" "809" "-12" "809" "-12" "c.809-12dup" "r.(=)" "p.(=)" ""
"0000321349" "00002013" "55" "784" "0" "784" "0" "c.784A>C" "r.(?)" "p.(Thr262Pro)" "5"
"0000337541" "00002013" "30" "1154" "0" "1154" "0" "c.*20C>G" "r.(=)" "p.(=)" ""
"0000337542" "00002013" "90" "990" "1" "990" "1" "c.990+1G>T" "r.spl?" "p.?" ""
"0000337544" "00002013" "10" "809" "-14" "809" "-14" "c.809-14G>C" "r.(=)" "p.(=)" ""
"0000337547" "00002013" "10" "130" "-5" "130" "-5" "c.130-5T>C" "r.spl?" "p.?" ""
"0000337548" "00002013" "10" "130" "-10" "130" "-10" "c.130-10G>C" "r.(=)" "p.(=)" ""
"0000337549" "00002013" "10" "-65" "0" "-65" "0" "c.-65T>C" "r.(?)" "p.(=)" ""
"0000337550" "00002013" "10" "-66" "0" "-66" "0" "c.-66C>T" "r.(?)" "p.(=)" ""
"0000343850" "00002013" "90" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Asn94Lys)" ""
"0000345177" "00002013" "70" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(Glu169Gly)" ""
"0000345233" "00002013" "50" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Glu209Asp)" ""
"0000345261" "00002013" "90" "682" "0" "682" "0" "c.682G>C" "r.(?)" "p.(Glu228Gln)" ""
"0000345760" "00002013" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Asp)" ""
"0000346046" "00002013" "50" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Gly38Ala)" ""
"0000348388" "00002013" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Pro335Leu)" ""
"0000350394" "00002013" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Val211Met)" ""
"0000350553" "00002013" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Phe)" ""
"0000446114" "00002013" "90" "1001" "0" "1001" "0" "c.1001C>G" "r.(?)" "p.(Pro334Arg)" ""
"0000459066" "00002013" "77" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256His)" ""
"0000469120" "00002013" "97" "143" "0" "143" "0" "c.143G>C" "r.(?)" "p.(Gly48Ala)" "3"
"0000505860" "00002013" "50" "941" "0" "941" "0" "c.941G>T" "r.(?)" "p.(Arg314Leu)" ""
"0000505861" "00002013" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Ile289=)" ""
"0000505862" "00002013" "10" "809" "-12" "809" "-12" "c.809-12dup" "r.(=)" "p.(=)" ""
"0000505863" "00002013" "30" "809" "-15" "809" "-15" "c.809-15dup" "r.(=)" "p.(=)" ""
"0000505864" "00002013" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" ""
"0000505865" "00002013" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Met229Ile)" ""
"0000505866" "00002013" "70" "610" "0" "610" "0" "c.610A>C" "r.(?)" "p.(Thr204Pro)" ""
"0000505867" "00002013" "70" "599" "0" "599" "0" "c.599A>C" "r.(?)" "p.(Tyr200Ser)" ""
"0000646755" "00002013" "70" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Val154Leu)" ""
"0000646764" "00002013" "70" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" ""
"0000646782" "00002013" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Pro114Leu)" ""
"0000653559" "00002013" "70" "364" "0" "364" "0" "c.364A>C" "r.(?)" "p.(Thr122Pro)" ""
"0000675309" "00002013" "70" "440" "0" "440" "0" "c.440C>A" "r.(?)" "p.(Ser147Tyr)" ""
"0000675329" "00002013" "90" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Glu74Lys)" ""
"0000675695" "00002013" "70" "239" "0" "239" "0" "c.239A>C" "r.(?)" "p.(Asn80Thr)" ""
"0000688051" "00002013" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" ""
"0000697285" "00002013" "70" "723" "0" "723" "0" "c.723C>A" "r.(?)" "p.(Ser241Arg)" ""
"0000697286" "00002013" "70" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ser147Phe)" ""
"0000715042" "00002013" "70" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" ""
"0000717253" "00002013" "90" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Val165Leu)" ""
"0000717254" "00002013" "70" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Arg41Leu)" ""
"0000763084" "00002013" "99" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Gly253Arg)" "5"
"0000763366" "00002013" "99" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "3"
"0000763367" "00002013" "99" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Ser)" "3"
"0000787188" "00002013" "50" "630" "0" "630" "0" "c.630C>G" "r.(?)" "p.(Ile210Met)" "5"
"0000787189" "00002013" "50" "1106" "0" "1106" "0" "c.1106C>A" "r.(?)" "p.(Pro369His)" "7"
"0000810845" "00002013" "79" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" ""
"0000818396" "00002013" "77" "983" "0" "985" "0" "c.983_985del" "r.(?)" "p.(Lys328del)" "6"
"0000832690" "00002013" "90" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Glu74Gln)" ""
"0000832979" "00002013" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" ""
"0000832980" "00002013" "70" "772" "0" "772" "0" "c.772C>G" "r.(?)" "p.(Arg258Gly)" ""
"0000833088" "00002013" "70" "772" "0" "772" "0" "c.772C>G" "r.(?)" "p.(Arg258Gly)" ""
"0000833092" "00002013" "70" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" ""
"0000833126" "00002013" "70" "317" "0" "317" "0" "c.317T>C" "r.(?)" "p.(Leu106Pro)" ""
"0000833190" "00002013" "70" "616" "2" "616" "2" "c.616+2T>C" "r.spl" "p.?" ""
"0000837175" "00002013" "90" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" ""
"0000857330" "00002013" "30" "996" "0" "996" "0" "c.996C>A" "r.(?)" "p.(Ile332=)" ""
"0000857331" "00002013" "30" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Thr151=)" ""
"0000876808" "00002013" "90" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Met134Ile)" "3"
"0000880808" "00002013" "70" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Asp181His)" ""
"0000880809" "00002013" "50" "130" "-5" "130" "-5" "c.130-5T>A" "r.spl" "p.?" ""
"0000880810" "00002013" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" ""
"0000880811" "00002013" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" ""
"0000880812" "00002013" "70" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Met285Arg)" ""
"0000883199" "00002013" "70" "1119" "0" "1119" "0" "c.1119C>G" "r.(?)" "p.(His373Gln)" ""
"0000883200" "00002013" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" ""
"0000883201" "00002013" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Met46Val)" ""
"0000883202" "00002013" "30" "129" "16" "129" "16" "c.129+16C>T" "r.(=)" "p.(=)" ""
"0000909215" "00002013" "70" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" ""
"0000909237" "00002013" "70" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" ""
"0000918455" "00002013" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" ""
"0000920717" "00002013" "70" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Pro335Ser)" ""
"0000931941" "00002013" "50" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Val249Ile)" "VUS"
"0000934136" "00002013" "90" "871" "0" "871" "0" "c.871A>T" "r.(?)" "p.(Ile291Phe)" ""
"0000945970" "00002013" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Pro335Leu)" ""
"0000945971" "00002013" "90" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Asn94Lys)" ""
"0000946120" "00002013" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Pro335Leu)" ""
"0000973770" "00002013" "70" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Ile371Phe)" ""
"0000990944" "00002013" "90" "990" "1" "990" "1" "c.990+1G>T" "r.spl?" "p.?" ""
"0000990945" "00002013" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(Arg39Gly)" ""
"0001007071" "00002013" "70" "454" "1" "454" "1" "c.454+1G>A" "r.spl?" "p.?" "In3"
"0001021223" "00002013" "70" "577" "0" "577" "0" "c.577A>G" "r.(?)" "p.(Lys193Glu)" "4"
"0001024121" "00002013" "30" "809" "-15" "809" "-15" "c.809-15dup" "r.(=)" "p.(=)" ""
"0001031791" "00002013" "70" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Val372Leu)" ""
"0001031792" "00002013" "50" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Asp294Asn)" ""
"0001031793" "00002013" "50" "454" "8" "454" "8" "c.454+8C>T" "r.(=)" "p.(=)" ""
"0001031794" "00002013" "50" "454" "7" "454" "7" "c.454+7G>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 437
"{{screeningid}}" "{{variantid}}"
"0000034711" "0000061830"
"0000034712" "0000061831"
"0000034713" "0000061832"
"0000034714" "0000061833"
"0000034715" "0000061834"
"0000034716" "0000061835"
"0000034717" "0000061836"
"0000034718" "0000061837"
"0000034719" "0000061838"
"0000034720" "0000061839"
"0000034721" "0000061840"
"0000054638" "0000084588"
"0000106636" "0000172349"
"0000106637" "0000172350"
"0000106638" "0000172351"
"0000106639" "0000172352"
"0000106640" "0000172353"
"0000106641" "0000172354"
"0000106642" "0000172355"
"0000106643" "0000172356"
"0000106644" "0000172357"
"0000106645" "0000172358"
"0000106646" "0000172359"
"0000106647" "0000172360"
"0000106648" "0000172361"
"0000106649" "0000172362"
"0000106650" "0000172363"
"0000106651" "0000172364"
"0000106652" "0000172365"
"0000106653" "0000172366"
"0000106654" "0000172367"
"0000106655" "0000172368"
"0000106656" "0000172369"
"0000106657" "0000172370"
"0000106658" "0000172371"
"0000106659" "0000172372"
"0000106660" "0000172373"
"0000106661" "0000172374"
"0000106662" "0000172375"
"0000106663" "0000172376"
"0000106664" "0000172377"
"0000106665" "0000172378"
"0000106666" "0000172379"
"0000106667" "0000172380"
"0000106668" "0000172381"
"0000106669" "0000172382"
"0000106670" "0000172383"
"0000106671" "0000172384"
"0000106672" "0000172385"
"0000106672" "0000172386"
"0000106673" "0000172387"
"0000106674" "0000172388"
"0000106675" "0000172389"
"0000106676" "0000172390"
"0000106677" "0000172391"
"0000106678" "0000172392"
"0000106679" "0000172393"
"0000106680" "0000172394"
"0000106681" "0000172395"
"0000106682" "0000172396"
"0000106683" "0000172397"
"0000106684" "0000172398"
"0000106685" "0000172399"
"0000106686" "0000172400"
"0000106687" "0000172401"
"0000106688" "0000172402"
"0000106689" "0000172403"
"0000106690" "0000172404"
"0000106691" "0000172405"
"0000106692" "0000172406"
"0000106693" "0000172407"
"0000106694" "0000172408"
"0000106695" "0000172409"
"0000106696" "0000172410"
"0000106697" "0000172411"
"0000106698" "0000172412"
"0000106699" "0000172413"
"0000106700" "0000172414"
"0000106701" "0000172415"
"0000106702" "0000172416"
"0000106703" "0000172417"
"0000106704" "0000172418"
"0000106705" "0000172419"
"0000106706" "0000172420"
"0000106707" "0000172421"
"0000106708" "0000172422"
"0000106709" "0000172423"
"0000106710" "0000172424"
"0000106711" "0000172425"
"0000106712" "0000172426"
"0000106713" "0000172427"
"0000106714" "0000172428"
"0000106715" "0000172429"
"0000106716" "0000172430"
"0000106717" "0000172431"
"0000106718" "0000172432"
"0000106719" "0000172433"
"0000106720" "0000172434"
"0000106721" "0000172435"
"0000106722" "0000172436"
"0000106723" "0000172437"
"0000106724" "0000172438"
"0000106725" "0000172439"
"0000106726" "0000172440"
"0000106727" "0000172441"
"0000106728" "0000172442"
"0000106729" "0000172443"
"0000106729" "0000172444"
"0000106730" "0000172445"
"0000106731" "0000172446"
"0000106732" "0000172447"
"0000106733" "0000172448"
"0000106734" "0000172449"
"0000106735" "0000172450"
"0000106736" "0000172451"
"0000106737" "0000172452"
"0000106738" "0000172453"
"0000106739" "0000172454"
"0000106740" "0000172455"
"0000106740" "0000172456"
"0000106741" "0000172457"
"0000106742" "0000172458"
"0000106743" "0000172459"
"0000106744" "0000172460"
"0000106745" "0000172461"
"0000106746" "0000172462"
"0000106747" "0000172463"
"0000106748" "0000172464"
"0000106749" "0000172465"
"0000106750" "0000172466"
"0000106751" "0000172467"
"0000106752" "0000172468"
"0000106753" "0000172469"
"0000106754" "0000172470"
"0000106755" "0000172471"
"0000106756" "0000172472"
"0000106757" "0000172473"
"0000106758" "0000172474"
"0000106759" "0000172475"
"0000106760" "0000172476"
"0000106760" "0000172477"
"0000106761" "0000172478"
"0000106762" "0000172479"
"0000106763" "0000172480"
"0000106764" "0000172481"
"0000106765" "0000172482"
"0000106766" "0000172483"
"0000106767" "0000172484"
"0000106768" "0000172485"
"0000106769" "0000172486"
"0000106770" "0000172487"
"0000106771" "0000172488"
"0000106772" "0000172489"
"0000106773" "0000172490"
"0000106774" "0000172491"
"0000106775" "0000172492"
"0000106776" "0000172493"
"0000106777" "0000172494"
"0000106778" "0000172495"
"0000106779" "0000172496"
"0000106780" "0000172497"
"0000106781" "0000172498"
"0000106782" "0000172499"
"0000106783" "0000172500"
"0000106784" "0000172501"
"0000106785" "0000172502"
"0000106786" "0000172503"
"0000106787" "0000172504"
"0000106788" "0000172505"
"0000106789" "0000172506"
"0000106790" "0000172507"
"0000106791" "0000172508"
"0000106792" "0000172509"
"0000106793" "0000172510"
"0000106793" "0000172511"
"0000106794" "0000172512"
"0000106795" "0000172513"
"0000106796" "0000172514"
"0000106797" "0000172515"
"0000106798" "0000172516"
"0000106799" "0000172517"
"0000106800" "0000172518"
"0000106801" "0000172519"
"0000106802" "0000172520"
"0000106803" "0000172521"
"0000106804" "0000172522"
"0000106805" "0000172523"
"0000106806" "0000172524"
"0000106807" "0000172525"
"0000106808" "0000172526"
"0000106809" "0000172527"
"0000106810" "0000172528"
"0000106811" "0000172529"
"0000106812" "0000172530"
"0000106813" "0000172531"
"0000106814" "0000172532"
"0000106815" "0000172533"
"0000106816" "0000172534"
"0000106817" "0000172535"
"0000106818" "0000172536"
"0000106819" "0000172537"
"0000106820" "0000172539"
"0000106820" "0000172540"
"0000106821" "0000172541"
"0000106821" "0000172542"
"0000106822" "0000172543"
"0000106823" "0000172544"
"0000106824" "0000172545"
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