### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACTC1)
# 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}}"
"ACTC1"	"actin, alpha, cardiac muscle 1"	"15"	"q14"	"unknown"	"NG_007553.1"	"UD_132118404575"	""	"https://www.LOVD.nl/ACTC1"	""	"1"	"143"	"70"	"102540"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a>.</b></font><br>An ACTC1 database is present at the <a href=\"http://genepath.med.harvard.edu/~seidman/cg3/genes/ACTC_info.html\">Sarcomere Protein Gene Mutation Database</a> and the <a href=\"http://www.angis.org.au/Databases/Heart/heartbreak.html\">FHC Mutation Database</a> <i>(NOTE: link is broken)</i>. We have tried to contact the database curators but thus far without success. The variants reported here are partly copied from these sites."	""	"g"	"https://databases.lovd.nl/shared/refseq/ACTC1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a>.</b></font>"	"-1"	""	"-1"	"00000"	"2010-05-01 00:00:00"	"00006"	"2019-01-20 12:29:38"	"00000"	"2023-07-07 10:10:56"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00001126"	"ACTC1"	"actin, alpha, cardiac muscle 1"	"001"	"NM_005159.4"	""	"NP_005150.1"	""	""	""	"-243"	"3450"	"1134"	"35080297"	"35087927"	"00000"	"2012-09-13 13:13:45"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00152"	"CHD"	"heart disease, congenital (CHD)"	""	""	""	""	""	"00008"	"2013-06-19 09:27:11"	"00006"	"2015-01-23 22:14:45"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2016-10-22 17:54:40"
"00351"	"CMH"	"cardiomyopathy, hypertrophic (CMH)"	""	""	""	""	""	"00006"	"2014-03-13 16:15:54"	"00006"	"2015-03-06 17:16:01"
"00352"	"CMD"	"cardiomyopathy, dilated (CMD)"	""	""	""	""	""	"00006"	"2014-03-13 16:16:15"	"00006"	"2015-03-06 17:18:25"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03088"	"CMH11"	"cardiomyopathy, hypertrophic, familial, type 11 (CMH-11)"	"AD"	"612098"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03191"	"ASD5"	"septal defect, atrial, type 5 (ASD5)"	"AD"	"612794"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03331"	"CMD1R;LVNC4"	"cardiomyopathy, dilated, type 1R (CMD-1R, left ventricular noncompaction, type 4 (LVNC-4))"	"AD"	"613424"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04172"	"CM"	"cardiomyopathy (CM)"	""	""	""	""	""	"00006"	"2015-01-20 15:34:26"	"00006"	"2016-03-20 12:15:43"
"04173"	"LVNC"	"ventricular noncompaction, left (LVNC)"	""	""	""	""	""	"00006"	"2015-01-20 15:35:56"	"00006"	"2015-10-12 17:03:37"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"ACTC1"	"03088"
"ACTC1"	"03191"
"ACTC1"	"03331"


## Individuals ## Do not remove or alter this header ##
## Count = 62
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00032719"	""	""	""	"1"	""	"01195"	""	""	"M"	"no"	"Lebanon"	"08y"	"0"	""	""	"Lebanese"	""
"00033819"	""	""	""	"7"	""	"00006"	""	"family 7 affecteds"	""	""	"United States"	""	"0"	""	""	""	""
"00033820"	""	""	""	"11"	""	"00006"	"{PMID:Monserrat 2007:17611253}"	"4-generation family 11 affecteds"	""	""	"Spain"	""	"0"	""	""	""	""
"00033821"	""	""	""	"7"	""	"00006"	"{PMID:Monserrat 2007:17611253}"	"3-generation family 7 affecteds"	""	""	"Spain"	""	"0"	""	""	""	""
"00033822"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00033823"	""	""	""	"4"	""	"00006"	""	"family, 4 affecteds"	""	""	""	""	"0"	""	""	""	""
"00033824"	""	""	""	"2"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00033825"	""	""	""	"14"	""	"00006"	""	"3-generation family, 13 carriers (1 asymptomatic)"	""	""	""	""	"0"	""	""	""	""
"00033826"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033827"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033828"	""	""	""	"4"	""	"00006"	""	"family 3 affecteds and 1 asymptomatic young carrier"	""	""	"Germany"	""	"0"	""	""	""	""
"00033829"	""	""	""	"4"	""	"00006"	""	"family 4 affecteds"	""	""	"Sweden;Norway"	""	"0"	""	""	""	""
"00033830"	""	""	""	"7"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033831"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033832"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033833"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033834"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033835"	""	""	""	"16"	""	"00006"	""	"5-generation family 16 affecteds"	""	""	"Sweden"	""	"0"	""	""	""	""
"00033836"	""	""	""	"12"	""	"00006"	""	"5-generation family 12 affecteds"	""	""	"Sweden"	""	"0"	""	""	""	""
"00033837"	""	""	""	"2"	""	"00006"	""	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00033838"	""	""	""	"22"	""	"00006"	"{PMID:Monserrat 2007:17611253}"	"4-generation family 22 affecteds"	""	""	"Spain"	""	"0"	""	""	""	""
"00033839"	""	""	""	"3"	""	"00006"	"{PMID:Monserrat 2007:17611253}"	"3-generation family 3 affecteds"	""	""	"Spain"	""	"0"	""	""	""	""
"00033840"	""	""	""	"3"	""	"00006"	"{PMID:Monserrat 2007:17611253}"	"3-generation family 3 affecteds"	""	""	"Spain"	""	"0"	""	""	""	""
"00033841"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033842"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033843"	""	""	""	"1"	""	"00006"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00033844"	""	""	""	"2"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033845"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033846"	""	""	""	"3"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00033847"	""	""	""	"1"	""	"00052"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00033848"	""	""	""	"1"	""	"00052"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00037520"	""	""	""	"1"	""	"01195"	""	""	"M"	"no"	"Lebanon"	"10y"	"0"	"yes"	""	"Maronite Lebanese"	""
"00064230"	""	""	""	"1"	""	"00006"	"{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}"	"analysis of 223 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00108650"	""	""	""	"1"	""	"01401"	"{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}"	""	""	""	"Italy"	""	"0"	""	""	""	"HCM"
"00108651"	""	""	""	"1"	""	"01401"	"{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}"	""	""	""	"Italy"	""	"0"	""	""	""	"HCM"
"00291183"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291184"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00316203"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316204"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316205"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316206"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316207"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316208"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316209"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316210"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00316211"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00317077"	""	""	""	"2"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317078"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317079"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317080"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317081"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317082"	""	""	""	"4"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317083"	""	""	""	"2"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317084"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317705"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317706"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317707"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317708"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00317709"	""	""	""	"1"	""	"00006"	"{PMID:Walsh 2017:27532257}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00374360"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-80"
"00376426"	""	""	""	"1"	""	"00006"	"{PMID:Nguyen 2021:34011823}"	""	""	""	"Viet Nam"	""	"0"	""	""	""	"Pat169"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 61
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00032719"	"00152"
"00033819"	"03088"
"00033820"	"03088"
"00033821"	"03088"
"00033822"	"03088"
"00033824"	"03088"
"00033825"	"03088"
"00033826"	"03088"
"00033827"	"03088"
"00033828"	"03331"
"00033829"	"03331"
"00033830"	"00000"
"00033831"	"00000"
"00033832"	"00000"
"00033833"	"03088"
"00033834"	"03088"
"00033835"	"03191"
"00033836"	"03191"
"00033837"	"03191"
"00033838"	"03088"
"00033839"	"03088"
"00033840"	"03088"
"00033841"	"04173"
"00033842"	"04173"
"00033843"	"00351"
"00033844"	"00352"
"00033845"	"00352"
"00033846"	"00352"
"00033847"	"00351"
"00033848"	"00351"
"00037520"	"00152"
"00064230"	"00351"
"00108650"	"00351"
"00108651"	"00351"
"00291183"	"00198"
"00291184"	"00198"
"00316203"	"04172"
"00316204"	"04172"
"00316205"	"04172"
"00316206"	"04172"
"00316207"	"04172"
"00316208"	"04172"
"00316209"	"04172"
"00316210"	"04172"
"00316211"	"04172"
"00317077"	"04172"
"00317078"	"04172"
"00317079"	"04172"
"00317080"	"04172"
"00317081"	"04172"
"00317082"	"04172"
"00317083"	"04172"
"00317084"	"04172"
"00317705"	"04172"
"00317706"	"04172"
"00317707"	"04172"
"00317708"	"04172"
"00317709"	"04172"
"00374360"	"00198"
"00376426"	"00352"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00152, 00198, 00351, 00352, 01157, 03088, 03191, 03331, 04172, 04173
## Count = 60
"{{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}}"
"0000026149"	"00152"	"00032719"	"01195"	"Familial, autosomal dominant"	""	"Atrial septal defect ostium secundum type\r\nValvular aortic stenosis\r\nPulmonary hypertension\r\nHypertelorism\r\nPectus excavatum"	""	""	""	""	""	""	""	""	""	""	""
"0000027221"	"03088"	"00033819"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027222"	"03088"	"00033820"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027223"	"03088"	"00033821"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027224"	"03088"	"00033822"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027225"	"03088"	"00033823"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027226"	"03088"	"00033824"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027227"	"03088"	"00033825"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027228"	"03088"	"00033826"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027229"	"03088"	"00033827"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027230"	"03331"	"00033828"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027231"	"03331"	"00033829"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027232"	"00000"	"00033830"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027233"	"00000"	"00033831"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027234"	"00000"	"00033832"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027235"	"03088"	"00033833"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027236"	"03088"	"00033834"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027237"	"03191"	"00033835"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027238"	"03191"	"00033836"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027239"	"03191"	"00033837"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027240"	"03088"	"00033838"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027241"	"03088"	"00033839"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027242"	"03088"	"00033840"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027243"	"04173"	"00033841"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027244"	"04173"	"00033842"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027245"	"00351"	"00033843"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027246"	"00352"	"00033844"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027247"	"00352"	"00033845"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027248"	"00352"	"00033846"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027249"	"00351"	"00033847"	"00052"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027250"	"00351"	"00033848"	"00052"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028013"	"00152"	"00037520"	"01195"	"Familial, autosomal dominant"	""	"secundum atrial septal defect, aortic valve stenosis, pectus excavatum, hypertelorism"	"00y01m"	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000050746"	"00351"	"00064230"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000086124"	"00351"	"00108650"	"01401"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000086125"	"00351"	"00108651"	"01401"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239949"	"04172"	"00316203"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239950"	"04172"	"00316204"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239951"	"04172"	"00316205"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239952"	"04172"	"00316206"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239953"	"04172"	"00316207"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239954"	"04172"	"00316208"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239955"	"04172"	"00316209"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239956"	"04172"	"00316210"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000239957"	"04172"	"00316211"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240823"	"04172"	"00317077"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240824"	"04172"	"00317078"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240825"	"04172"	"00317079"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240826"	"04172"	"00317080"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240827"	"04172"	"00317081"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240828"	"04172"	"00317082"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240829"	"04172"	"00317083"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000240830"	"04172"	"00317084"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"hypertrophic cardiomyopathy"	""
"0000241451"	"04172"	"00317705"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""
"0000241452"	"04172"	"00317706"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""
"0000241453"	"04172"	"00317707"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""
"0000241454"	"04172"	"00317708"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""
"0000241455"	"04172"	"00317709"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""
"0000269570"	"00198"	"00374360"	"00006"	"Familial, X-linked"	""	"Hydrocephalus, aqueductal stenosis and adducted thumb"	""	""	""	""	""	""	""	""	""	"hydrocephalus"	""
"0000271634"	"00352"	"00376426"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 62
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000032787"	"00032719"	"1"	"01195"	"01195"	"2015-02-25 00:51:11"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000033885"	"00033819"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA;SEQ"	"DNA"	""	""
"0000033886"	"00033820"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"PCRdig;SEQ"	"DNA"	""	""
"0000033887"	"00033821"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"PCRdig;SEQ"	"DNA"	""	""
"0000033888"	"00033822"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA;SEQ"	"DNA"	""	""
"0000033889"	"00033823"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033890"	"00033824"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033891"	"00033825"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033892"	"00033826"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033893"	"00033827"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA;SEQ"	"DNA"	""	""
"0000033894"	"00033828"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA;SEQ"	"DNA"	""	""
"0000033895"	"00033829"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ;SSCA"	"DNA"	""	""
"0000033896"	"00033830"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033897"	"00033831"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033898"	"00033832"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033899"	"00033833"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033900"	"00033834"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033901"	"00033835"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033902"	"00033836"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033903"	"00033837"	"1"	"00006"	"00006"	"2010-05-30 11:42:22"	"00006"	"2012-11-02 20:40:23"	"SEQ"	"DNA"	""	""
"0000033904"	"00033838"	"1"	"00006"	"00006"	"2010-05-30 12:24:04"	"00006"	"2012-11-02 20:40:23"	"PCRdig;SEQ"	"DNA"	""	""
"0000033905"	"00033839"	"1"	"00006"	"00006"	"2010-05-30 12:24:05"	"00006"	"2012-11-02 20:40:23"	"PCRdig;SEQ"	"DNA"	""	""
"0000033906"	"00033840"	"1"	"00006"	"00006"	"2010-05-30 12:24:05"	"00006"	"2012-11-02 20:40:23"	"PCRdig;SEQ"	"DNA"	""	""
"0000033907"	"00033841"	"1"	"00006"	"00006"	"2010-05-30 12:24:05"	"00006"	"2012-11-02 20:40:23"	"DHPLC;SEQ"	"DNA"	""	""
"0000033908"	"00033842"	"1"	"00006"	"00006"	"2010-05-30 12:24:05"	"00006"	"2012-11-02 20:40:23"	"DHPLC;SEQ"	"DNA"	""	""
"0000033909"	"00033843"	"1"	"00006"	"00006"	"2010-06-04 21:57:38"	"00006"	"2012-11-02 20:40:23"	"DHPLC"	"DNA"	""	""
"0000033910"	"00033844"	"1"	"00006"	"00006"	"2012-02-03 16:21:44"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033911"	"00033845"	"1"	"00006"	"00006"	"2012-02-03 16:21:44"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033912"	"00033846"	"1"	"00006"	"00006"	"2012-02-03 16:21:44"	"00006"	"2012-11-02 20:40:23"	"SSCA"	"DNA"	""	""
"0000033913"	"00033847"	"1"	"00052"	"00052"	"2013-07-08 19:54:35"	"00006"	"2013-07-08 20:00:55"	"SEQ"	"DNA"	""	""
"0000033914"	"00033848"	"1"	"00052"	"00052"	"2013-07-08 19:58:58"	"00006"	"2013-07-08 20:00:07"	"SEQ"	"DNA"	""	""
"0000037612"	"00037520"	"1"	"01195"	"01195"	"2015-04-06 23:38:55"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000064363"	"00064230"	"1"	"00006"	"00006"	"2016-04-27 09:28:54"	""	""	"SEQ"	"DNA"	""	""
"0000109115"	"00108650"	"1"	"01401"	"00006"	"2017-07-28 12:12:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000109116"	"00108651"	"1"	"01401"	"00006"	"2017-07-28 12:12:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000292351"	"00291183"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292352"	"00291184"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000317385"	"00316203"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317386"	"00316204"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317387"	"00316205"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317388"	"00316206"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317389"	"00316207"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317390"	"00316208"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317391"	"00316209"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317392"	"00316210"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000317393"	"00316211"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318259"	"00317077"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318260"	"00317078"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318261"	"00317079"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318262"	"00317080"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318263"	"00317081"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318264"	"00317082"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318265"	"00317083"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318266"	"00317084"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318887"	"00317705"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318888"	"00317706"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318889"	"00317707"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318890"	"00317708"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000318891"	"00317709"	"1"	"00006"	"00006"	"2020-11-03 19:57:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cardiomyopathy gene panel"
"0000375554"	"00374360"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000377631"	"00376426"	"1"	"00006"	"00006"	"2021-06-22 13:15:11"	""	""	"SEQ-NG"	"DNA"	""	"58-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 57
"{{screeningid}}"	"{{geneid}}"
"0000032787"	"ACTC1"
"0000033885"	"ACTC1"
"0000033886"	"ACTC1"
"0000033887"	"ACTC1"
"0000033888"	"ACTC1"
"0000033889"	"ACTC1"
"0000033890"	"ACTC1"
"0000033891"	"ACTC1"
"0000033892"	"ACTC1"
"0000033893"	"ACTC1"
"0000033894"	"ACTC1"
"0000033895"	"ACTC1"
"0000033896"	"ACTC1"
"0000033897"	"ACTC1"
"0000033898"	"ACTC1"
"0000033899"	"ACTC1"
"0000033900"	"ACTC1"
"0000033901"	"ACTC1"
"0000033902"	"ACTC1"
"0000033903"	"ACTC1"
"0000033904"	"ACTC1"
"0000033905"	"ACTC1"
"0000033906"	"ACTC1"
"0000033907"	"ACTC1"
"0000033908"	"ACTC1"
"0000033909"	"ACTC1"
"0000033910"	"ACTC1"
"0000033911"	"ACTC1"
"0000033912"	"ACTC1"
"0000033913"	"ACTC1"
"0000033914"	"ACTC1"
"0000037612"	"ACTC1"
"0000064363"	"ACTC1"
"0000317385"	"ACTC1"
"0000317386"	"ACTC1"
"0000317387"	"ACTC1"
"0000317388"	"ACTC1"
"0000317389"	"ACTC1"
"0000317390"	"ACTC1"
"0000317391"	"ACTC1"
"0000317392"	"ACTC1"
"0000317393"	"ACTC1"
"0000318259"	"ACTC1"
"0000318260"	"ACTC1"
"0000318261"	"ACTC1"
"0000318262"	"ACTC1"
"0000318263"	"ACTC1"
"0000318264"	"ACTC1"
"0000318265"	"ACTC1"
"0000318266"	"ACTC1"
"0000318887"	"ACTC1"
"0000318888"	"ACTC1"
"0000318889"	"ACTC1"
"0000318890"	"ACTC1"
"0000318891"	"ACTC1"
"0000375554"	"L1CAM"
"0000377631"	"ACTC1"


## 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 = 229
"{{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}}"
"0000005446"	"0"	"30"	"15"	"35084215"	"35084215"	"subst"	"0"	"00037"	"ACTC1_000021"	"g.35084215C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.34792014C>G"	""	"likely benign"	""
"0000058960"	"11"	"70"	"15"	"35085649"	"35085649"	"subst"	"0"	"01195"	"ACTC1_000020"	"g.35085649A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.34793448A>G"	""	"likely pathogenic"	""
"0000060731"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Olson 2000:10966831}"	"AvaI-"	"G>A Glu99Lys"	"not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060732"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Arad 2005:16267253}, {PMID:Monserrat 2007:17611253}"	"AvaI-"	"G515A (E101K)"	"founder mutation"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060733"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Arad 2005:16267253}, {PMID:Monserrat 2007:17611253}"	"AvaI-"	"G515A (E101K)"	"founder mutation"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060734"	"1"	"90"	"15"	"35084729"	"35084729"	"subst"	"0"	"00006"	"ACTC1_000002"	"g.35084729G>C"	""	"{PMID:Olson 2000:10966831}"	""	"C>G Pro164Ala"	"not in 300 control chromosomes; de novo in patient"	"De novo"	""	""	"0"	""	""	"g.34792528G>C"	""	"pathogenic"	""
"0000060735"	"1"	"90"	"15"	"35084722"	"35084722"	"subst"	"0"	"00006"	"ACTC1_000003"	"g.35084722T>C"	""	"{PMID:Mogensen 2004:14729850}"	""	"1153A>G (Tyr166Cys)"	"not in 150 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34792521T>C"	""	"pathogenic"	""
"0000060736"	"1"	"90"	"15"	"35084404"	"35084404"	"subst"	"0"	"00006"	"ACTC1_000004"	"g.35084404G>A"	""	"{PMID:van Driest 2003:12860912}"	""	"Ala232Val"	""	"Germline"	""	""	"0"	""	""	"g.34792203G>A"	""	"pathogenic"	""
"0000060737"	"1"	"90"	"15"	"35083416"	"35083416"	"subst"	"0"	"00006"	"ACTC1_000005"	"g.35083416C>A"	""	"{PMID:Mogensen 1999:10330430}, {OMIM102540:0003}"	"SspI+"	"G>T Ala295Ser"	"linkage analysis; not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34791215C>A"	""	"pathogenic"	""
"0000060738"	"1"	"90"	"15"	"35083386"	"35083386"	"subst"	"0"	"00006"	"ACTC1_000006"	"g.35083386T>G"	""	"{PMID:Mogensen 2004:14729850}"	"MslI-"	"283A>C (Met305Leu)"	"not in 150 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34791185T>G"	""	"pathogenic"	""
"0000060739"	"1"	"90"	"15"	"35082750"	"35082750"	"subst"	"0"	"00006"	"ACTC1_000007"	"g.35082750C>G"	""	"{PMID:Olson 2000:10966831}"	""	"G>C Ala331Pro"	"not in 300 control chromosomes; de novo in patient"	"De novo"	""	""	"0"	""	""	"g.34790549C>G"	""	"pathogenic"	""
"0000060740"	"1"	"90"	"15"	"35083364"	"35083364"	"subst"	"0.00000814292"	"00006"	"ACTC1_000008"	"g.35083364C>T"	""	"{PMID:Olson 1998:09563954}, {OMIM102540:0001}"	"BclI+"	"G>A Arg312His"	"not in 870 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34791163C>T"	""	"pathogenic"	""
"0000060741"	"1"	"90"	"15"	"35082659"	"35082659"	"subst"	"0"	"00006"	"ACTC1_000009"	"g.35082659T>C"	""	"{PMID:Olson 1998:09563954}, {OMIM102540:0002}"	""	"A>G Glu361Gly"	"not in 870 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34790458T>C"	""	"pathogenic"	""
"0000060742"	"0"	"10"	"15"	"35082694"	"35082694"	"subst"	"0.0000365476"	"00006"	"ACTC1_000010"	"g.35082694C>G"	"7/256"	"{PMID:Takai 1999:10494087}"	""	"G979C"	""	"Germline"	""	""	"0"	""	""	"g.34790493C>G"	""	"benign"	""
"0000060743"	"0"	"10"	"15"	"35082655"	"35082655"	"subst"	"0.0000284245"	"00006"	"ACTC1_000011"	"g.35082655G>A"	"1/256"	"{PMID:Takai 1999:10494087}"	""	"C1018T"	""	"Germline"	""	""	"0"	""	""	"g.34790454G>A"	""	"benign"	""
"0000060744"	"0"	"10"	"15"	"35082593"	"35082593"	"subst"	"0.000101526"	"00006"	"ACTC1_000012"	"g.35082593A>T"	"1/256"	"{PMID:Takai 1999:10494087}"	""	"T1080A"	""	"Germline"	""	""	"0"	""	""	"g.34790392A>T"	""	"benign"	""
"0000060745"	"1"	"90"	"15"	"35085632"	"35085632"	"subst"	"0.00000812117"	"00006"	"ACTC1_000013"	"g.35085632G>A"	""	"{PMID:Morita 2008:18403758}, {OMIM102540:0004}"	""	""	"not in 1000 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793431G>A"	""	"pathogenic"	""
"0000060746"	"1"	"90"	"15"	"35085611"	"35085611"	"subst"	"0.00000406055"	"00006"	"ACTC1_000014"	"g.35085611G>A"	""	"{PMID:Morita 2008:18403758}"	""	""	"not in 1000 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793410G>A"	""	"pathogenic"	""
"0000060747"	"1"	"90"	"15"	"35085527"	"35085527"	"subst"	"0"	"00006"	"ACTC1_000015"	"g.35085527T>C"	""	"{PMID:Matsson 2008:17947298}, {OMIM102540:0005}"	""	"Met123Val"	"linkage analysis; not in 580 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793326T>C"	""	"pathogenic"	""
"0000060748"	"1"	"90"	"15"	"35085527"	"35085527"	"subst"	"0"	"00006"	"ACTC1_000015"	"g.35085527T>C"	""	"{PMID:Matsson 2008:17947298}, {OMIM102540:0005}"	""	"Met123Val"	"linkage analysis; not in 580 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793326T>C"	""	"pathogenic"	""
"0000060749"	"1"	"90"	"15"	"35085674"	"35085690"	"del"	"0"	"00006"	"ACTC1_000016"	"g.35085674_35085690del"	""	"{PMID:Matsson 2008:17947298}, {OMIM102540:0006}"	""	""	"not in 580 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.34793473_34793489del"	""	"pathogenic"	""
"0000060750"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Monserrat 2007:17611253}"	"AvaI-"	""	"founder mutation"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060751"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Monserrat 2007:17611253}"	"AvaI-"	""	"founder mutation"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060752"	"1"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Monserrat 2007:17611253}"	"AvaI-"	""	"founder mutation"	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060753"	"11"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Klaassen 2008:18506004}"	""	"478G>A"	""	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060754"	"11"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	""	"{PMID:Klaassen 2008:18506004}"	""	"478G>A"	""	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000060755"	"0"	"90"	"15"	"35083487"	"35083487"	"subst"	"0"	"00006"	"ACTC1_000017"	"g.35083487G>A"	""	"{PMID:Olivotto 2008:18533079}"	""	"C>T (S273F)"	""	"Germline"	""	""	"0"	""	""	"g.34791286G>A"	""	"pathogenic"	""
"0000060756"	"1"	"10"	"15"	"35082694"	"35082694"	"subst"	"0.0000365476"	"00006"	"ACTC1_000010"	"g.35082694C>G"	"2/272"	"{PMID:Takai 1999:10494087}"	""	"G979C"	""	"Germline"	""	""	"0"	""	""	"g.34790493C>G"	""	"benign"	""
"0000060757"	"1"	"10"	"15"	"35082655"	"35082655"	"subst"	"0.0000284245"	"00006"	"ACTC1_000011"	"g.35082655G>A"	"1/272"	"{PMID:Takai 1999:10494087}"	""	"C1018T"	""	"Germline"	""	""	"0"	""	""	"g.34790454G>A"	""	"benign"	""
"0000060758"	"1"	"10"	"15"	"35082593"	"35082593"	"subst"	"0.000101526"	"00006"	"ACTC1_000012"	"g.35082593A>T"	"3/272"	"{PMID:Takai 1999:10494087}"	""	"T1080A"	""	"Germline"	""	""	"0"	""	""	"g.34790392A>T"	""	"benign"	""
"0000060759"	"1"	"70"	"15"	"35085625"	"35085627"	"del"	"0"	"00052"	"ACTC1_000018"	"g.35085625_35085627del"	""	"{PMID:Kaski 2009:20031618}"	""	"2385_2387delTCT"	""	"Unknown"	""	""	"0"	""	""	"g.34793424_34793426del"	""	"likely pathogenic"	""
"0000060760"	"1"	"70"	"15"	"35083365"	"35083365"	"subst"	"0"	"00052"	"ACTC1_000019"	"g.35083365G>A"	""	"{PMID:Kaski 2009:20031618}"	""	"4645C>T"	""	"Unknown"	""	""	"0"	""	""	"g.34791164G>A"	""	"likely pathogenic"	""
"0000064762"	"11"	"70"	"15"	"35085649"	"35085649"	"subst"	"0"	"01195"	"ACTC1_000020"	"g.35085649A>G"	""	""	""	""	"Absent from ESP and ExAC"	"Germline"	"yes"	""	"0"	""	""	"g.34793448A>G"	""	"likely pathogenic"	""
"0000095820"	"1"	"50"	"15"	"35085539"	"35085539"	"subst"	"0"	"00006"	"ACTC1_000022"	"g.35085539T>C"	"1/223 cases HCM"	"{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}"	""	"NM_005159:c.A361G"	""	"Germline"	""	""	"0"	""	""	"g.34793338T>C"	""	"VUS"	""
"0000175207"	"1"	"90"	"15"	"35084392"	"35084392"	"subst"	"0"	"01401"	"ACTC1_000024"	"g.35084392G>A"	"reads 0.48"	"{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}"	""	""	"NCBI reference KU324679"	"Germline"	""	""	"0"	""	""	"g.34792191G>A"	""	"pathogenic"	""
"0000175208"	"1"	"90"	"15"	"35082755"	"35082755"	"subst"	"0"	"01401"	"ACTC1_000023"	"g.35082755A>T"	"reads 0.48"	"{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}"	""	""	"NCBI reference KU324680"	"Germline"	""	""	"0"	""	""	"g.34790554A>T"	""	"pathogenic"	""
"0000247299"	"0"	"10"	"15"	"35083378"	"35083378"	"subst"	"0.00804735"	"02330"	"ACTC1_000104"	"g.35083378A>G"	""	""	""	"ACTC1(NM_005159.4):c.927T>C (p.P309=), ACTC1(NM_005159.5):c.927T>C (p.P309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791177A>G"	""	"benign"	""
"0000250667"	"0"	"10"	"15"	"35083378"	"35083378"	"subst"	"0.00804735"	"02326"	"ACTC1_000104"	"g.35083378A>G"	""	""	""	"ACTC1(NM_005159.4):c.927T>C (p.P309=), ACTC1(NM_005159.5):c.927T>C (p.P309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791177A>G"	""	"benign"	""
"0000252417"	"0"	"70"	"15"	"35083385"	"35083385"	"subst"	"0.00000812183"	"02326"	"ACTC1_000105"	"g.35083385A>G"	""	""	""	"ACTC1(NM_005159.4):c.920T>C (p.M307T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791184A>G"	""	"likely pathogenic"	""
"0000253019"	"0"	"10"	"15"	"35083378"	"35083378"	"subst"	"0.00804735"	"01943"	"ACTC1_000104"	"g.35083378A>G"	""	""	""	"ACTC1(NM_005159.4):c.927T>C (p.P309=), ACTC1(NM_005159.5):c.927T>C (p.P309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791177A>G"	""	"benign"	""
"0000254943"	"0"	"30"	"15"	"35084688"	"35084688"	"subst"	"0.0000203028"	"01943"	"ACTC1_000086"	"g.35084688A>T"	""	""	""	"ACTC1(NM_005159.4):c.537T>A (p.R179=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792487A>T"	""	"likely benign"	""
"0000257179"	"0"	"10"	"15"	"35082608"	"35082608"	"subst"	"0.0000162438"	"02330"	"ACTC1_000026"	"g.35082608G>C"	""	""	""	"ACTC1(NM_005159.5):c.*5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34790407G>C"	""	"benign"	""
"0000257181"	"0"	"10"	"15"	"35086875"	"35086875"	"subst"	"0.000424227"	"02330"	"ACTC1_000103"	"g.35086875G>C"	""	""	""	"ACTC1(NM_005159.5):c.129+6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34794674G>C"	""	"benign"	""
"0000257182"	"0"	"10"	"15"	"35085788"	"35085788"	"subst"	"0"	"02330"	"ACTC1_000098"	"g.35085788G>T"	""	""	""	"ACTC1(NM_005159.5):c.130-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793587G>T"	""	"benign"	""
"0000257183"	"0"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"02330"	"ACTC1_000001"	"g.35085599C>T"	""	""	""	"ACTC1(NM_005159.4):c.301G>A (p.E101K), ACTC1(NM_005159.5):c.301G>A (p.E101K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000257184"	"0"	"10"	"15"	"35085477"	"35085477"	"subst"	"0"	"02330"	"ACTC1_000091"	"g.35085477C>T"	""	""	""	"ACTC1(NM_005159.5):c.423G>A (p.V141=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793276C>T"	""	"benign"	""
"0000257185"	"0"	"10"	"15"	"35085437"	"35085437"	"subst"	"0.000650428"	"02330"	"ACTC1_000090"	"g.35085437C>T"	""	""	""	"ACTC1(NM_005159.4):c.454+9G>A, ACTC1(NM_005159.5):c.454+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793236C>T"	""	"benign"	""
"0000257186"	"0"	"50"	"15"	"35084776"	"35084776"	"subst"	"0"	"02330"	"ACTC1_000088"	"g.35084776C>T"	""	""	""	"ACTC1(NM_005159.5):c.455-6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792575C>T"	""	"VUS"	""
"0000257187"	"0"	"50"	"15"	"35084476"	"35084476"	"subst"	"0.0000406075"	"02330"	"ACTC1_000084"	"g.35084476C>T"	""	""	""	"ACTC1(NM_005159.5):c.623G>A (p.R208H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792275C>T"	""	"VUS"	""
"0000257188"	"0"	"30"	"15"	"35084396"	"35084401"	"del"	"0"	"02330"	"ACTC1_000083"	"g.35084396_35084401del"	""	""	""	"ACTC1(NM_005159.5):c.702_707delTTCCTC (p.S236_S237del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792195_34792200del"	""	"likely benign"	""
"0000257189"	"0"	"10"	"15"	"35084304"	"35084304"	"subst"	"0"	"02330"	"ACTC1_000081"	"g.35084304C>T"	""	""	""	"ACTC1(NM_005159.5):c.795G>A (p.Q265=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792103C>T"	""	"benign"	""
"0000257193"	"0"	"10"	"15"	"35083553"	"35083554"	"del"	"0"	"02330"	"ACTC1_000111"	"g.35083553_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13delTG, ACTC1(NM_005159.5):c.809-14_809-13delTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791352_34791353del"	""	"benign"	""
"0000257195"	"0"	"10"	"15"	"35083553"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000120"	"g.35083553_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13dupTG, ACTC1(NM_005159.5):c.809-14_809-13dupTG, GJD2-DT(NR_120329.1):n.299+13921_299+13922dupCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791352_34791353dup"	""	"benign"	""
"0000257196"	"0"	"30"	"15"	"35083551"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000119"	"g.35083551_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13dupTGTG, ACTC1(NM_005159.4):c.809-18_809-15dupTGTG, ACTC1(NM_005159.5):c.809-16_809-13dupTGTG, ACTC1(NM_005159.5)..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791350_34791353dup"	""	"likely benign"	""
"0000257197"	"0"	"10"	"15"	"35083549"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000118"	"g.35083549_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13dupTGTGTG, ACTC1(NM_005159.4):c.809-20_809-15dupTGTGTG, ACTC1(NM_005159.4):c.809-22_809-17dupTGTGTG, ACTC1(NM_00...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791348_34791353dup"	""	"benign"	""
"0000257198"	"0"	"10"	"15"	"35083547"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000117"	"g.35083547_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-20_809-13dupTGTGTGTG, ACTC1(NM_005159.4):c.809-24_809-17dupTGTGTGTG, ACTC1(NM_005159.5):c.809-20_809-13dupTGTGTGTG, ACTC1..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791346_34791353dup"	""	"benign"	""
"0000257199"	"0"	"30"	"15"	"35083545"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000116"	"g.35083545_35083554dup"	""	""	""	"ACTC1(NM_005159.5):c.809-22_809-13dupTGTGTGTGTG, ACTC1(NM_005159.5):c.809-30_809-21dupTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791344_34791353dup"	""	"likely benign"	""
"0000257200"	"0"	"10"	"15"	"35083509"	"35083510"	"ins"	"0"	"02330"	"ACTC1_000112"	"g.35083509_35083510insCA"	""	""	""	"ACTC1(NM_005159.5):c.809-14_809-13insTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791308_34791309insCA"	""	"benign"	""
"0000257201"	"0"	"10"	"15"	"35083509"	"35083510"	"ins"	"0"	"02330"	"ACTC1_000113"	"g.35083509_35083510insCACA"	""	""	""	"ACTC1(NM_005159.5):c.809-12_809-11insTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791308_34791309insCACA"	""	"benign"	""
"0000257202"	"0"	"10"	"15"	"35083509"	"35083510"	"ins"	"0"	"02330"	"ACTC1_000114"	"g.35083509_35083510insCACACA"	""	""	""	"ACTC1(NM_005159.5):c.809-12_809-11insTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791308_34791309insCACACA"	""	"benign"	""
"0000257203"	"0"	"10"	"15"	"35083551"	"35083554"	"del"	"0"	"02330"	"ACTC1_000115"	"g.35083551_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13delTGTG, ACTC1(NM_005159.5):c.809-16_809-13delTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791350_34791353del"	""	"benign"	""
"0000257209"	"0"	"10"	"15"	"35083549"	"35083554"	"del"	"0"	"02330"	"ACTC1_000032"	"g.35083549_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13delTGTGTG, ACTC1(NM_005159.5):c.809-18_809-13delTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791348_34791353del"	""	"benign"	""
"0000257215"	"0"	"10"	"15"	"35083547"	"35083554"	"del"	"0"	"02330"	"ACTC1_000033"	"g.35083547_35083554del"	""	""	""	"ACTC1(NM_005159.5):c.809-20_809-13delTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791346_34791353del"	""	"benign"	""
"0000257220"	"0"	"10"	"15"	"35083543"	"35083554"	"del"	"0"	"02330"	"ACTC1_000034"	"g.35083543_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-24_809-13delTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-24_809-13delTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791342_34791353del"	""	"benign"	""
"0000257224"	"0"	"10"	"15"	"35083541"	"35083554"	"del"	"0"	"02330"	"ACTC1_000035"	"g.35083541_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-26_809-13delTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-26_809-13delTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791340_34791353del"	""	"benign"	""
"0000257228"	"0"	"10"	"15"	"35083539"	"35083554"	"del"	"0"	"02330"	"ACTC1_000036"	"g.35083539_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-28_809-13delTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-28_809-13delTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13907_299+..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791338_34791353del"	""	"benign"	""
"0000257241"	"0"	"10"	"15"	"35083545"	"35083554"	"del"	"0"	"02330"	"ACTC1_000060"	"g.35083545_35083554del"	""	""	""	"ACTC1(NM_005159.5):c.809-22_809-13delTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791344_34791353del"	""	"benign"	""
"0000257249"	"0"	"10"	"15"	"35083535"	"35083554"	"del"	"0"	"02330"	"ACTC1_000038"	"g.35083535_35083554del"	""	""	""	"ACTC1(NM_005159.5):c.809-32_809-13delTGTGTGTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791334_34791353del"	""	"benign"	""
"0000257250"	"0"	"10"	"15"	"35083537"	"35083554"	"del"	"0"	"02330"	"ACTC1_000047"	"g.35083537_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13905_..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791336_34791353del"	""	"benign"	""
"0000257252"	"0"	"50"	"15"	"35083484"	"35083484"	"subst"	"0"	"02330"	"ACTC1_000106"	"g.35083484G>A"	""	""	""	"ACTC1(NM_005159.5):c.821C>T (p.A274V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791283G>A"	""	"VUS"	""
"0000258715"	"0"	"10"	"15"	"35083551"	"35083554"	"del"	"0"	"02325"	"ACTC1_000068"	"g.35083551_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13delTGTG, ACTC1(NM_005159.5):c.809-16_809-13delTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791350_34791353del"	""	"benign"	""
"0000258716"	"0"	"10"	"15"	"35083537"	"35083554"	"del"	"0"	"02325"	"ACTC1_000037"	"g.35083537_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13905_..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791336_34791353del"	""	"benign"	""
"0000258914"	"0"	"10"	"15"	"35083539"	"35083554"	"del"	"0"	"02325"	"ACTC1_000046"	"g.35083539_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-28_809-13delTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-28_809-13delTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13907_299+..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791338_34791353del"	""	"benign"	""
"0000258915"	"0"	"10"	"15"	"35083549"	"35083554"	"del"	"0"	"02325"	"ACTC1_000069"	"g.35083549_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13delTGTGTG, ACTC1(NM_005159.5):c.809-18_809-13delTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791348_34791353del"	""	"benign"	""
"0000259382"	"0"	"30"	"15"	"35086863"	"35086863"	"dup"	"0"	"02325"	"ACTC1_000102"	"g.35086863dup"	""	""	""	"ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34794662dup"	""	"likely benign"	""
"0000259383"	"0"	"30"	"15"	"35086861"	"35086862"	"ins"	"0.00122507"	"02325"	"ACTC1_000101"	"g.35086861_35086862insA"	""	""	""	"ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34794660_34794661insA"	""	"likely benign"	""
"0000259384"	"0"	"30"	"15"	"35084777"	"35084777"	"subst"	"0.000048731"	"02325"	"ACTC1_000089"	"g.35084777G>A"	""	""	""	"ACTC1(NM_005159.5):c.455-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792576G>A"	""	"likely benign"	""
"0000259385"	"0"	"30"	"15"	"35083509"	"35083513"	"del"	"0"	"02325"	"ACTC1_000031"	"g.35083509_35083513del"	""	""	""	"ACTC1(NM_005159.5):c.809-17_809-13delGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791308_34791312del"	""	"likely benign"	""
"0000259386"	"0"	"30"	"15"	"35083514"	"35083526"	"del"	"0"	"02325"	"ACTC1_000055"	"g.35083514_35083526del"	""	""	""	"ACTC1(NM_005159.5):c.809-30_809-18delTGTGTGTGTGTGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791313_34791325del"	""	"likely benign"	""
"0000259593"	"0"	"50"	"15"	"35083484"	"35083484"	"subst"	"0"	"02325"	"ACTC1_000106"	"g.35083484G>A"	""	""	""	"ACTC1(NM_005159.5):c.821C>T (p.A274V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791283G>A"	""	"VUS"	""
"0000259611"	"0"	"50"	"15"	"35084477"	"35084477"	"subst"	"0"	"02325"	"ACTC1_000085"	"g.35084477G>A"	""	""	""	"ACTC1(NM_005159.4):c.622C>T (p.R208C), ACTC1(NM_005159.5):c.622C>T (p.R208C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792276G>A"	""	"VUS"	""
"0000259612"	"0"	"50"	"15"	"35083338"	"35083338"	"subst"	"0"	"02325"	"ACTC1_000030"	"g.35083338C>A"	""	""	""	"ACTC1(NM_005159.4):c.967G>T (p.A323S), ACTC1(NM_005159.5):c.967G>T (p.A323S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791137C>A"	""	"VUS"	""
"0000259735"	"0"	"90"	"15"	"35085592"	"35085592"	"subst"	"0"	"02325"	"ACTC1_000093"	"g.35085592T>C"	""	""	""	"ACTC1(NM_005159.5):c.308A>G (p.H103R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793391T>C"	""	"pathogenic"	""
"0000260500"	"0"	"70"	"15"	"35084722"	"35084722"	"subst"	"0"	"02326"	"ACTC1_000003"	"g.35084722T>C"	""	""	""	"ACTC1(NM_005159.4):c.503A>G (p.Y168C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792521T>C"	""	"likely pathogenic"	""
"0000260501"	"0"	"10"	"15"	"35084722"	"35084722"	"subst"	"0"	"02326"	"ACTC1_000087"	"g.35084722T>A"	""	""	""	"ACTC1(NM_005159.4):c.503A>T (p.Y168F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792521T>A"	""	"benign"	""
"0000260502"	"0"	"50"	"15"	"35084477"	"35084477"	"subst"	"0"	"02326"	"ACTC1_000085"	"g.35084477G>A"	""	""	""	"ACTC1(NM_005159.4):c.622C>T (p.R208C), ACTC1(NM_005159.5):c.622C>T (p.R208C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792276G>A"	""	"VUS"	""
"0000260503"	"0"	"70"	"15"	"35084374"	"35084374"	"subst"	"0"	"02326"	"ACTC1_000082"	"g.35084374T>C"	""	""	""	"ACTC1(NM_005159.4):c.725A>G (p.Y242C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792173T>C"	""	"likely pathogenic"	""
"0000260504"	"0"	"30"	"15"	"35083539"	"35083554"	"del"	"0"	"02326"	"ACTC1_000046"	"g.35083539_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-28_809-13delTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-28_809-13delTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13907_299+..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791338_34791353del"	""	"likely benign"	""
"0000260505"	"0"	"30"	"15"	"35083541"	"35083554"	"del"	"0"	"02326"	"ACTC1_000053"	"g.35083541_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-26_809-13delTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-26_809-13delTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791340_34791353del"	""	"likely benign"	""
"0000260506"	"0"	"30"	"15"	"35083537"	"35083554"	"del"	"0"	"02326"	"ACTC1_000047"	"g.35083537_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13905_..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791336_34791353del"	""	"likely benign"	""
"0000260508"	"0"	"90"	"15"	"35083494"	"35083494"	"subst"	"0"	"02326"	"ACTC1_000107"	"g.35083494T>C"	""	""	""	"ACTC1(NM_005159.4):c.811A>G (p.M271V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791293T>C"	""	"pathogenic"	""
"0000260509"	"0"	"30"	"15"	"35083251"	"35083251"	"subst"	"0"	"02326"	"ACTC1_000028"	"g.35083251G>A"	""	""	""	"ACTC1(NM_005159.4):c.990+64C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791050G>A"	""	"likely benign"	""
"0000261835"	"0"	"10"	"15"	"35082591"	"35082591"	"subst"	"0.000909682"	"01943"	"ACTC1_000025"	"g.35082591G>A"	""	""	""	"ACTC1(NM_005159.4):c.*22C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34790390G>A"	""	"benign"	""
"0000261836"	"0"	"30"	"15"	"35082655"	"35082655"	"subst"	"0.0000284245"	"01943"	"ACTC1_000011"	"g.35082655G>A"	""	""	""	"ACTC1(NM_005159.4):c.1092C>T (p.Y364=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34790454G>A"	""	"likely benign"	""
"0000261837"	"0"	"10"	"15"	"35082616"	"35082616"	"subst"	"0.0000162431"	"01943"	"ACTC1_000027"	"g.35082616G>A"	""	""	""	"ACTC1(NM_005159.4):c.1131C>T (p.F377=), ACTC1(NM_005159.5):c.1131C>T (p.F377=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34790415G>A"	""	"benign"	""
"0000261840"	"0"	"30"	"15"	"35085696"	"35085696"	"subst"	"0"	"01943"	"ACTC1_000097"	"g.35085696G>A"	""	""	""	"ACTC1(NM_005159.4):c.204C>T (p.T68=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793495G>A"	""	"likely benign"	""
"0000261842"	"0"	"30"	"15"	"35085681"	"35085681"	"subst"	"0.0000893343"	"01943"	"ACTC1_000094"	"g.35085681G>A"	""	""	""	"ACTC1(NM_005159.4):c.219C>T (p.I73=), ACTC1(NM_005159.5):c.219C>T (p.I73=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793480G>A"	""	"likely benign"	""
"0000261843"	"0"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"01943"	"ACTC1_000001"	"g.35085599C>T"	""	""	""	"ACTC1(NM_005159.4):c.301G>A (p.E101K), ACTC1(NM_005159.5):c.301G>A (p.E101K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000261844"	"0"	"90"	"15"	"35085517"	"35085517"	"subst"	"0"	"01943"	"ACTC1_000092"	"g.35085517G>A"	""	""	""	"ACTC1(NM_005159.4):c.383C>T (p.T128I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793316G>A"	""	"pathogenic"	""
"0000261845"	"0"	"30"	"15"	"35085437"	"35085437"	"subst"	"0.000650428"	"01943"	"ACTC1_000090"	"g.35085437C>T"	""	""	""	"ACTC1(NM_005159.4):c.454+9G>A, ACTC1(NM_005159.5):c.454+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34793236C>T"	""	"likely benign"	""
"0000261846"	"0"	"10"	"15"	"35084261"	"35084261"	"subst"	"0.0000203386"	"01943"	"ACTC1_000080"	"g.35084261C>T"	""	""	""	"ACTC1(NM_005159.4):c.808+30G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34792060C>T"	""	"benign"	""
"0000261848"	"0"	"90"	"15"	"35083494"	"35083494"	"subst"	"0"	"01943"	"ACTC1_000107"	"g.35083494T>C"	""	""	""	"ACTC1(NM_005159.4):c.811A>G (p.M271V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791293T>C"	""	"pathogenic"	""
"0000261849"	"0"	"30"	"15"	"35083327"	"35083327"	"subst"	"0.00000412412"	"01943"	"ACTC1_000029"	"g.35083327G>A"	""	""	""	"ACTC1(NM_005159.4):c.978C>T (p.T326=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.34791126G>A"	""	"likely benign"	""
"0000405585"	"0"	"90"	"15"	"35082659"	"35082659"	"subst"	"0"	"00006"	"ACTC1_000009"	"g.35082659T>C"	""	"{PMID:Wong 2001:12222827}"	""	""	"expression cloning yeast; threefold reduced alpha-actinin binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.34790458T>C"	""	"NA"	""
"0000405586"	"0"	"90"	"15"	"35083364"	"35083364"	"subst"	"0.00000814292"	"00006"	"ACTC1_000008"	"g.35083364C>T"	""	"{PMID:Wong 2001:12222827}"	""	""	"expression cloning yeast; reduced cell viability"	"In vitro (cloned)"	""	""	"0"	""	""	"g.34791163C>T"	""	"NA"	""
"0000405587"	"0"	"90"	"15"	"35082750"	"35082750"	"subst"	"0"	"00006"	"ACTC1_000007"	"g.35082750C>G"	""	"{PMID:Wong 2001:12222827}"	""	""	"expression cloning yeast; reduced stability in circular dichroism melting, hampered ?lament formation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.34790549C>G"	""	"NA"	""
"0000405588"	"0"	"30"	"15"	"35084729"	"35084729"	"subst"	"0"	"00006"	"ACTC1_000002"	"g.35084729G>C"	""	"{PMID:Wong 2001:12222827}"	""	""	"expression cloning yeast; no difference compared to wild-type"	"In vitro (cloned)"	""	""	"0"	""	""	"g.34792528G>C"	""	"NA"	""
"0000554039"	"0"	"50"	"15"	"35045248"	"35045248"	"subst"	"0"	"01804"	"ACTC1_000121"	"g.35045248C>T"	""	""	""	"GJD2(NM_020660.2):c.397G>A (p.(Gly133Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34753047C>T"	""	"VUS"	""
"0000554040"	"0"	"30"	"15"	"35081738"	"35081738"	"subst"	"0"	"02327"	"ACTC1_000122"	"g.35081738C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34789537C>G"	""	"likely benign"	""
"0000554041"	"0"	"30"	"15"	"35081745"	"35081745"	"subst"	"0"	"02327"	"ACTC1_000123"	"g.35081745A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34789544A>C"	""	"likely benign"	""
"0000554042"	"0"	"30"	"15"	"35082425"	"35082425"	"subst"	"0"	"02327"	"ACTC1_000124"	"g.35082425C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34790224C>A"	""	"likely benign"	""
"0000554043"	"0"	"50"	"15"	"35082654"	"35082654"	"subst"	"0"	"02327"	"ACTC1_000125"	"g.35082654C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34790453C>T"	""	"VUS"	""
"0000554044"	"0"	"30"	"15"	"35082766"	"35082768"	"del"	"0"	"02327"	"ACTC1_000126"	"g.35082766_35082768del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34790565_34790567del"	""	"likely benign"	""
"0000554045"	"0"	"50"	"15"	"35083338"	"35083338"	"subst"	"0"	"02326"	"ACTC1_000030"	"g.35083338C>A"	""	""	""	"ACTC1(NM_005159.4):c.967G>T (p.A323S), ACTC1(NM_005159.5):c.967G>T (p.A323S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791137C>A"	""	"VUS"	""
"0000554046"	"0"	"10"	"15"	"35083378"	"35083378"	"subst"	"0.00804735"	"02327"	"ACTC1_000104"	"g.35083378A>G"	""	""	""	"ACTC1(NM_005159.4):c.927T>C (p.P309=), ACTC1(NM_005159.5):c.927T>C (p.P309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791177A>G"	""	"benign"	""
"0000554047"	"0"	"70"	"15"	"35083492"	"35083492"	"subst"	"0"	"02327"	"ACTC1_000127"	"g.35083492C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791291C>T"	""	"likely pathogenic"	""
"0000554048"	"0"	"30"	"15"	"35083507"	"35083507"	"subst"	"0"	"02327"	"ACTC1_000128"	"g.35083507G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791306G>C"	""	"likely benign"	""
"0000554049"	"0"	"10"	"15"	"35083508"	"35083508"	"subst"	"0"	"02330"	"ACTC1_000129"	"g.35083508T>A"	""	""	""	"ACTC1(NM_005159.5):c.809-18_809-12delTGTGTGAinsTGTGTGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791307T>A"	""	"benign"	""
"0000554050"	"0"	"30"	"15"	"35083508"	"35083509"	"ins"	"0"	"02327"	"ACTC1_000130"	"g.35083508_35083509insGTGT"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791307_34791308insGTGT"	""	"likely benign"	""
"0000554051"	"0"	"10"	"15"	"35083508"	"35083509"	"ins"	"0"	"02327"	"ACTC1_000131"	"g.35083508_35083509insTCA"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791307_34791308insTCA"	""	"benign"	""
"0000554052"	"0"	"10"	"15"	"35083509"	"35083510"	"ins"	"0"	"02330"	"ACTC1_000132"	"g.35083509_35083510insCACACACA"	""	""	""	"ACTC1(NM_005159.5):c.809-12_809-11insTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791308_34791309insCACACACA"	""	"benign"	""
"0000554053"	"0"	"10"	"15"	"35083509"	"35083510"	"ins"	"0"	"02330"	"ACTC1_000133"	"g.35083509_35083510insCACACACACA"	""	""	""	"ACTC1(NM_005159.5):c.809-12_809-11insTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791308_34791309insCACACACACA"	""	"benign"	""
"0000554055"	"0"	"10"	"15"	"35083511"	"35083529"	"del"	"0"	"02327"	"ACTC1_000134"	"g.35083511_35083529del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791310_34791328del"	""	"benign"	""
"0000554058"	"0"	"10"	"15"	"35083537"	"35083554"	"del"	"0"	"02327"	"ACTC1_000047"	"g.35083537_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-30_809-13delTGTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13905_..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791336_34791353del"	""	"benign"	""
"0000554059"	"0"	"10"	"15"	"35083539"	"35083554"	"del"	"0"	"02327"	"ACTC1_000036"	"g.35083539_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-28_809-13delTGTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-28_809-13delTGTGTGTGTGTGTGTG, GJD2-DT(NR_120329.1):n.299+13907_299+..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791338_34791353del"	""	"benign"	""
"0000554060"	"0"	"30"	"15"	"35083541"	"35083554"	"del"	"0"	"02327"	"ACTC1_000035"	"g.35083541_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-26_809-13delTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-26_809-13delTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791340_34791353del"	""	"likely benign"	""
"0000554061"	"0"	"30"	"15"	"35083543"	"35083554"	"del"	"0"	"02326"	"ACTC1_000034"	"g.35083543_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-24_809-13delTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-24_809-13delTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791342_34791353del"	""	"likely benign"	""
"0000554062"	"0"	"30"	"15"	"35083547"	"35083554"	"del"	"0"	"02327"	"ACTC1_000033"	"g.35083547_35083554del"	""	""	""	"ACTC1(NM_005159.5):c.809-20_809-13delTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791346_34791353del"	""	"likely benign"	""
"0000554063"	"0"	"30"	"15"	"35083547"	"35083554"	"dup"	"0"	"02326"	"ACTC1_000117"	"g.35083547_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-20_809-13dupTGTGTGTG, ACTC1(NM_005159.4):c.809-24_809-17dupTGTGTGTG, ACTC1(NM_005159.5):c.809-20_809-13dupTGTGTGTG, ACTC1..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791346_34791353dup"	""	"likely benign"	""
"0000554064"	"0"	"10"	"15"	"35083549"	"35083554"	"del"	"0"	"02327"	"ACTC1_000032"	"g.35083549_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13delTGTGTG, ACTC1(NM_005159.5):c.809-18_809-13delTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791348_34791353del"	""	"benign"	""
"0000554065"	"0"	"10"	"15"	"35083549"	"35083554"	"dup"	"0"	"02325"	"ACTC1_000118"	"g.35083549_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13dupTGTGTG, ACTC1(NM_005159.4):c.809-20_809-15dupTGTGTG, ACTC1(NM_005159.4):c.809-22_809-17dupTGTGTG, ACTC1(NM_00...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791348_34791353dup"	""	"benign"	""
"0000554066"	"0"	"10"	"15"	"35083549"	"35083554"	"dup"	"0"	"02326"	"ACTC1_000118"	"g.35083549_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13dupTGTGTG, ACTC1(NM_005159.4):c.809-20_809-15dupTGTGTG, ACTC1(NM_005159.4):c.809-22_809-17dupTGTGTG, ACTC1(NM_00...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791348_34791353dup"	""	"benign"	""
"0000554067"	"0"	"10"	"15"	"35083551"	"35083554"	"del"	"0"	"02327"	"ACTC1_000115"	"g.35083551_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13delTGTG, ACTC1(NM_005159.5):c.809-16_809-13delTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791350_34791353del"	""	"benign"	""
"0000554068"	"0"	"10"	"15"	"35083551"	"35083554"	"del"	"0"	"02326"	"ACTC1_000068"	"g.35083551_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13delTGTG, ACTC1(NM_005159.5):c.809-16_809-13delTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791350_34791353del"	""	"benign"	""
"0000554069"	"0"	"10"	"15"	"35083551"	"35083554"	"dup"	"0"	"02325"	"ACTC1_000119"	"g.35083551_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13dupTGTG, ACTC1(NM_005159.4):c.809-18_809-15dupTGTG, ACTC1(NM_005159.5):c.809-16_809-13dupTGTG, ACTC1(NM_005159.5)..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791350_34791353dup"	""	"benign"	""
"0000554070"	"0"	"10"	"15"	"35083551"	"35083554"	"dup"	"0"	"02326"	"ACTC1_000119"	"g.35083551_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13dupTGTG, ACTC1(NM_005159.4):c.809-18_809-15dupTGTG, ACTC1(NM_005159.5):c.809-16_809-13dupTGTG, ACTC1(NM_005159.5)..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791350_34791353dup"	""	"benign"	""
"0000554071"	"0"	"10"	"15"	"35083553"	"35083554"	"del"	"0"	"02327"	"ACTC1_000111"	"g.35083553_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13delTG, ACTC1(NM_005159.5):c.809-14_809-13delTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353del"	""	"benign"	""
"0000554072"	"0"	"30"	"15"	"35083553"	"35083554"	"del"	"0"	"02326"	"ACTC1_000111"	"g.35083553_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13delTG, ACTC1(NM_005159.5):c.809-14_809-13delTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353del"	""	"likely benign"	""
"0000554073"	"0"	"30"	"15"	"35083553"	"35083554"	"dup"	"0"	"02325"	"ACTC1_000120"	"g.35083553_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13dupTG, ACTC1(NM_005159.5):c.809-14_809-13dupTG, GJD2-DT(NR_120329.1):n.299+13921_299+13922dupCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353dup"	""	"likely benign"	""
"0000554074"	"0"	"10"	"15"	"35083553"	"35083554"	"dup"	"0"	"02326"	"ACTC1_000120"	"g.35083553_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13dupTG, ACTC1(NM_005159.5):c.809-14_809-13dupTG, GJD2-DT(NR_120329.1):n.299+13921_299+13922dupCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353dup"	""	"benign"	""
"0000554075"	"0"	"30"	"15"	"35083553"	"35083554"	"dup"	"0"	"01943"	"ACTC1_000120"	"g.35083553_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13dupTG, ACTC1(NM_005159.5):c.809-14_809-13dupTG, GJD2-DT(NR_120329.1):n.299+13921_299+13922dupCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353dup"	""	"likely benign"	""
"0000554076"	"0"	"50"	"15"	"35084476"	"35084476"	"subst"	"0.0000406075"	"02327"	"ACTC1_000084"	"g.35084476C>T"	""	""	""	"ACTC1(NM_005159.5):c.623G>A (p.R208H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792275C>T"	""	"VUS"	""
"0000554078"	"0"	"30"	"15"	"35084489"	"35084489"	"subst"	"0.0000406081"	"02327"	"ACTC1_000137"	"g.35084489A>G"	""	""	""	"ACTC1(NM_005159.4):c.617-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792288A>G"	""	"likely benign"	""
"0000554079"	"0"	"50"	"15"	"35084684"	"35084684"	"subst"	"0"	"02326"	"ACTC1_000138"	"g.35084684C>G"	""	""	""	"ACTC1(NM_005159.4):c.541G>C (p.D181H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792483C>G"	""	"VUS"	""
"0000554080"	"0"	"30"	"15"	"35084688"	"35084688"	"subst"	"0.0000203028"	"02327"	"ACTC1_000086"	"g.35084688A>T"	""	""	""	"ACTC1(NM_005159.4):c.537T>A (p.R179=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792487A>T"	""	"likely benign"	""
"0000554081"	"0"	"10"	"15"	"35084769"	"35084769"	"subst"	"0.0000162431"	"02330"	"ACTC1_000139"	"g.35084769G>A"	""	""	""	"ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792568G>A"	""	"benign"	""
"0000554082"	"0"	"50"	"15"	"35084769"	"35084769"	"subst"	"0.0000162431"	"01943"	"ACTC1_000139"	"g.35084769G>A"	""	""	""	"ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792568G>A"	""	"VUS"	""
"0000554083"	"0"	"30"	"15"	"35085453"	"35085453"	"subst"	"0.0000203196"	"02326"	"ACTC1_000140"	"g.35085453A>G"	""	""	""	"ACTC1(NM_005159.4):c.447T>C (p.R149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793252A>G"	""	"likely benign"	""
"0000554084"	"0"	"70"	"15"	"35085517"	"35085517"	"subst"	"0"	"02327"	"ACTC1_000092"	"g.35085517G>A"	""	""	""	"ACTC1(NM_005159.4):c.383C>T (p.T128I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793316G>A"	""	"likely pathogenic"	""
"0000554085"	"0"	"50"	"15"	"35085538"	"35085538"	"subst"	"0"	"02327"	"ACTC1_000141"	"g.35085538A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793337A>G"	""	"VUS"	""
"0000554086"	"0"	"70"	"15"	"35085619"	"35085619"	"subst"	"0.00000406062"	"02327"	"ACTC1_000142"	"g.35085619T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793418T>C"	""	"likely pathogenic"	""
"0000554087"	"0"	"10"	"15"	"35085681"	"35085681"	"subst"	"0.0000893343"	"02330"	"ACTC1_000094"	"g.35085681G>A"	""	""	""	"ACTC1(NM_005159.4):c.219C>T (p.I73=), ACTC1(NM_005159.5):c.219C>T (p.I73=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793480G>A"	""	"benign"	""
"0000554088"	"0"	"10"	"15"	"35085735"	"35085735"	"subst"	"0.0000934154"	"02330"	"ACTC1_000143"	"g.35085735G>A"	""	""	""	"ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793534G>A"	""	"benign"	""
"0000554089"	"0"	"30"	"15"	"35085735"	"35085735"	"subst"	"0.0000934154"	"01943"	"ACTC1_000143"	"g.35085735G>A"	""	""	""	"ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793534G>A"	""	"likely benign"	""
"0000554090"	"0"	"30"	"15"	"35085735"	"35085735"	"subst"	"0.0000934154"	"02327"	"ACTC1_000143"	"g.35085735G>A"	""	""	""	"ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793534G>A"	""	"likely benign"	""
"0000554091"	"0"	"30"	"15"	"35085735"	"35085735"	"subst"	"0.0000934154"	"02325"	"ACTC1_000143"	"g.35085735G>A"	""	""	""	"ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793534G>A"	""	"likely benign"	""
"0000554092"	"0"	"30"	"15"	"35086849"	"35086849"	"subst"	"0.00272633"	"02327"	"ACTC1_000144"	"g.35086849G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794648G>T"	""	"likely benign"	""
"0000554093"	"0"	"10"	"15"	"35086861"	"35086862"	"ins"	"0.00122507"	"02330"	"ACTC1_000101"	"g.35086861_35086862insA"	""	""	""	"ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794660_34794661insA"	""	"benign"	""
"0000554094"	"0"	"10"	"15"	"35086861"	"35086862"	"ins"	"0.00122507"	"01943"	"ACTC1_000101"	"g.35086861_35086862insA"	""	""	""	"ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794660_34794661insA"	""	"benign"	""
"0000554095"	"0"	"10"	"15"	"35086863"	"35086863"	"dup"	"0"	"01943"	"ACTC1_000102"	"g.35086863dup"	""	""	""	"ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794662dup"	""	"benign"	""
"0000554096"	"0"	"10"	"15"	"35086863"	"35086863"	"dup"	"0"	"02327"	"ACTC1_000102"	"g.35086863dup"	""	""	""	"ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794662dup"	""	"benign"	""
"0000554097"	"0"	"30"	"15"	"35086864"	"35086865"	"ins"	"0"	"02325"	"ACTC1_000145"	"g.35086864_35086865insG"	""	""	""	"ACTC1(NM_005159.5):c.129+16_129+17insC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794663_34794664insG"	""	"likely benign"	""
"0000554098"	"0"	"50"	"15"	"35086881"	"35086881"	"subst"	"0"	"01943"	"ACTC1_000146"	"g.35086881C>T"	""	""	""	"ACTC1(NM_005159.4):c.129G>A (p.Q43=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794680C>T"	""	"VUS"	""
"0000554099"	"0"	"30"	"15"	"35086944"	"35086944"	"subst"	"0"	"02327"	"ACTC1_000147"	"g.35086944G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794743G>A"	""	"likely benign"	""
"0000554100"	"0"	"50"	"15"	"35086979"	"35086979"	"subst"	"0"	"01943"	"ACTC1_000148"	"g.35086979C>T"	""	""	""	"ACTC1(NM_005159.4):c.31G>A (p.V11M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794778C>T"	""	"VUS"	""
"0000554101"	"0"	"50"	"15"	"35087000"	"35087000"	"subst"	"0.00000407531"	"02326"	"ACTC1_000149"	"g.35087000C>T"	""	""	""	"ACTC1(NM_005159.4):c.10G>A (p.D4N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794799C>T"	""	"VUS"	""
"0000615236"	"0"	"50"	"15"	"35082624"	"35082624"	"subst"	"0"	"02330"	"ACTC1_000150"	"g.35082624T>G"	""	""	""	"ACTC1(NM_005159.5):c.1123A>C (p.K375Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34790423T>G"	""	"VUS"	""
"0000615237"	"0"	"70"	"15"	"35083364"	"35083364"	"subst"	"0.00000814292"	"02327"	"ACTC1_000008"	"g.35083364C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791163C>T"	""	"likely pathogenic"	""
"0000615238"	"0"	"30"	"15"	"35083375"	"35083375"	"subst"	"0.000138147"	"01943"	"ACTC1_000151"	"g.35083375A>G"	""	""	""	"ACTC1(NM_005159.4):c.930T>C (p.G310=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791174A>G"	""	"likely benign"	""
"0000615239"	"0"	"30"	"15"	"35083549"	"35083554"	"dup"	"0"	"02327"	"ACTC1_000118"	"g.35083549_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13dupTGTGTG, ACTC1(NM_005159.4):c.809-20_809-15dupTGTGTG, ACTC1(NM_005159.4):c.809-22_809-17dupTGTGTG, ACTC1(NM_00...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791348_34791353dup"	""	"likely benign"	""
"0000615240"	"0"	"10"	"15"	"35083551"	"35083554"	"dup"	"0"	"02327"	"ACTC1_000119"	"g.35083551_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-16_809-13dupTGTG, ACTC1(NM_005159.4):c.809-18_809-15dupTGTG, ACTC1(NM_005159.5):c.809-16_809-13dupTGTG, ACTC1(NM_005159.5)..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791350_34791353dup"	""	"benign"	""
"0000615241"	"0"	"10"	"15"	"35083553"	"35083554"	"dup"	"0"	"02327"	"ACTC1_000120"	"g.35083553_35083554dup"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13dupTG, ACTC1(NM_005159.5):c.809-14_809-13dupTG, GJD2-DT(NR_120329.1):n.299+13921_299+13922dupCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791352_34791353dup"	""	"benign"	""
"0000615242"	"0"	"30"	"15"	"35085453"	"35085453"	"subst"	"0.0000203196"	"02327"	"ACTC1_000140"	"g.35085453A>G"	""	""	""	"ACTC1(NM_005159.4):c.447T>C (p.R149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793252A>G"	""	"likely benign"	""
"0000615243"	"0"	"50"	"15"	"35086909"	"35086909"	"subst"	"0"	"02327"	"ACTC1_000153"	"g.35086909G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34794708G>A"	""	"VUS"	""
"0000623214"	"0"	"10"	"15"	"35083549"	"35083554"	"del"	"0"	"02326"	"ACTC1_000032"	"g.35083549_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-18_809-13delTGTGTG, ACTC1(NM_005159.5):c.809-18_809-13delTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34791348_34791353del"	""	"benign"	""
"0000623215"	"0"	"50"	"15"	"35085622"	"35085627"	"del"	"0"	"02326"	"ACTC1_000152"	"g.35085622_35085627del"	""	""	""	"ACTC1(NM_005159.4):c.274_279delTTCTAC (p.F92_Y93del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34793421_34793426del"	""	"VUS"	""
"0000649040"	"1"	"70"	"15"	"35083353"	"35083353"	"subst"	"0"	"03575"	"ACTC1_000154"	"g.35083353C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs730880403}"	"Germline"	""	"rs730880403"	"0"	""	""	"g.34791152C>T"	""	"likely pathogenic"	""
"0000649041"	"1"	"50"	"15"	"35084404"	"35084404"	"subst"	"0"	"03575"	"ACTC1_000004"	"g.35084404G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs730880396}"	"Germline"	""	"rs730880396"	"0"	""	""	"g.34792203G>A"	""	"VUS"	""
"0000657553"	"0"	"30"	"15"	"35084769"	"35084769"	"subst"	"0.0000162431"	"02326"	"ACTC1_000139"	"g.35084769G>A"	""	""	""	"ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.34792568G>A"	""	"likely benign"	""
"0000680148"	"0"	"30"	"15"	"35085507"	"35085507"	"subst"	"0"	"02326"	"ACTC1_000155"	"g.35085507G>A"	""	""	""	"ACTC1(NM_005159.4):c.393C>T (p.V131=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680149"	"0"	"30"	"15"	"35085660"	"35085660"	"subst"	"0.00000812117"	"02327"	"ACTC1_000156"	"g.35085660G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691779"	"0"	"50"	"15"	"35084464"	"35084464"	"subst"	"0"	"01943"	"ACTC1_000157"	"g.35084464C>T"	""	""	""	"ACTC1(NM_005159.4):c.635G>A (p.R212H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691780"	"0"	"30"	"15"	"35085439"	"35085439"	"subst"	"0"	"01943"	"ACTC1_000158"	"g.35085439A>G"	""	""	""	"ACTC1(NM_005159.4):c.454+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000699991"	"0"	"50"	"15"	"35086934"	"35086934"	"subst"	"0"	"00006"	"ACTC1_000173"	"g.35086934C>T"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34794733C>T"	""	"VUS"	""
"0000699992"	"0"	"50"	"15"	"35086900"	"35086900"	"subst"	"0.0000041448"	"00006"	"ACTC1_000171"	"g.35086900A>G"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34794699A>G"	""	"VUS"	""
"0000699993"	"0"	"50"	"15"	"35086886"	"35086886"	"subst"	"0"	"00006"	"ACTC1_000170"	"g.35086886G>A"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34794685G>A"	""	"VUS"	""
"0000699994"	"0"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000699995"	"0"	"50"	"15"	"35084347"	"35084347"	"subst"	"0"	"00006"	"ACTC1_000165"	"g.35084347G>C"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34792146G>C"	""	"VUS"	""
"0000699996"	"0"	"50"	"15"	"35084302"	"35084302"	"subst"	"0"	"00006"	"ACTC1_000163"	"g.35084302G>A"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34792101G>A"	""	"VUS"	""
"0000699997"	"0"	"50"	"15"	"35083455"	"35083455"	"subst"	"0"	"00006"	"ACTC1_000161"	"g.35083455T>A"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34791254T>A"	""	"VUS"	""
"0000699998"	"0"	"50"	"15"	"35082678"	"35082678"	"subst"	"0"	"00006"	"ACTC1_000160"	"g.35082678T>C"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34790477T>C"	""	"VUS"	""
"0000699999"	"0"	"50"	"15"	"35082648"	"35082648"	"subst"	"0"	"00006"	"ACTC1_000159"	"g.35082648C>T"	"1/1535 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34790447C>T"	""	"VUS"	""
"0000700865"	"0"	"50"	"15"	"35086982"	"35086982"	"subst"	"0.0000325815"	"00006"	"ACTC1_000174"	"g.35086982G>T"	"2/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34794781G>T"	""	"VUS"	""
"0000700866"	"0"	"50"	"15"	"35086934"	"35086934"	"subst"	"0"	"00006"	"ACTC1_000173"	"g.35086934C>T"	"1/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34794733C>T"	""	"VUS"	""
"0000700867"	"0"	"50"	"15"	"35086927"	"35086927"	"subst"	"0"	"00006"	"ACTC1_000172"	"g.35086927G>A"	"1/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34794726G>A"	""	"VUS"	""
"0000700868"	"0"	"50"	"15"	"35085671"	"35085671"	"subst"	"0.0000081211"	"00006"	"ACTC1_000169"	"g.35085671T>C"	"1/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34793470T>C"	""	"VUS"	""
"0000700869"	"0"	"50"	"15"	"35085632"	"35085632"	"subst"	"0.00000812117"	"00006"	"ACTC1_000013"	"g.35085632G>A"	"1/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34793431G>A"	""	"VUS"	""
"0000700870"	"0"	"90"	"15"	"35085599"	"35085599"	"subst"	"0.00000406058"	"00006"	"ACTC1_000001"	"g.35085599C>T"	"4/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34793398C>T"	""	"pathogenic"	""
"0000700871"	"0"	"70"	"15"	"35084306"	"35084306"	"subst"	"0"	"00006"	"ACTC1_000164"	"g.35084306G>C"	"2/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34792105G>C"	""	"likely pathogenic"	""
"0000700872"	"0"	"50"	"15"	"35083455"	"35083455"	"subst"	"0"	"00006"	"ACTC1_000161"	"g.35083455T>A"	"1/2650 cases"	"{PMID:Walsh 2017:27532257}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.34791254T>A"	""	"VUS"	""
"0000701493"	"0"	"50"	"15"	"35087003"	"35087003"	"subst"	"0"	"00006"	"ACTC1_000175"	"g.35087003C>G"	"1/748 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34794802C>G"	""	"VUS"	""
"0000701494"	"0"	"50"	"15"	"35085545"	"35085545"	"subst"	"0"	"00006"	"ACTC1_000168"	"g.35085545C>G"	"1/748 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34793344C>G"	""	"VUS"	""
"0000701495"	"0"	"50"	"15"	"35084750"	"35084750"	"subst"	"0"	"00006"	"ACTC1_000167"	"g.35084750C>T"	"1/748 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34792549C>T"	""	"VUS"	""
"0000701496"	"0"	"50"	"15"	"35084608"	"35084608"	"subst"	"0"	"00006"	"ACTC1_000166"	"g.35084608C>T"	"1/748 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34792407C>T"	""	"VUS"	""
"0000701497"	"0"	"50"	"15"	"35084293"	"35084293"	"subst"	"0"	"00006"	"ACTC1_000162"	"g.35084293A>G"	"1/748 cases"	"{PMID:Walsh 2017:27532257}"	""	""	"VUS favour pathogenic"	"Germline"	""	""	"0"	""	""	"g.34792092A>G"	""	"VUS"	""
"0000725046"	"0"	"50"	"15"	"35082730"	"35082730"	"subst"	"0"	"01943"	"ACTC1_000176"	"g.35082730G>T"	""	""	""	"ACTC1(NM_005159.4):c.1017C>A (p.Y339*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725047"	"0"	"50"	"15"	"35085499"	"35085499"	"subst"	"0"	"02325"	"ACTC1_000177"	"g.35085499A>G"	""	""	""	"ACTC1(NM_005159.5):c.401T>C (p.M134T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725048"	"0"	"10"	"15"	"35085501"	"35085501"	"subst"	"0.0000284333"	"02330"	"ACTC1_000178"	"g.35085501G>A"	""	""	""	"ACTC1(NM_005159.5):c.399C>T (p.A133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000725049"	"0"	"50"	"15"	"35085650"	"35085650"	"subst"	"0"	"01943"	"ACTC1_000179"	"g.35085650T>A"	""	""	""	"ACTC1(NM_005159.4):c.250A>T (p.M84L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725050"	"0"	"30"	"15"	"35087692"	"35087692"	"subst"	"0"	"02326"	"ACTC1_000180"	"g.35087692C>A"	""	""	""	"ACTC1(NM_005159.4):c.-23+15G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000787493"	"0"	"70"	"15"	"35086890"	"35086903"	"delins"	"0"	"00000"	"ACTC1_000181"	"g.35086890_35086903delinsG"	""	"0"	""	""	"secondary finding"	"Germline"	""	""	"0"	""	""	"g.34794689_34794702delinsG"	""	"likely pathogenic"	""
"0000790036"	"1"	"70"	"15"	"35083364"	"35083364"	"subst"	"0.00000814292"	"00006"	"ACTC1_000008"	"g.35083364C>T"	""	"{PMID:Nguyen 2021:34011823}"	""	""	"ACMG PS3 PS4 PM2 PP3 PP5; no genotypes reported"	"Germline"	""	""	"0"	""	""	"g.34791163C>T"	""	"likely pathogenic"	""
"0000806641"	"0"	"50"	"15"	"35083331"	"35083331"	"subst"	"0"	"02326"	"ACTC1_000182"	"g.35083331C>T"	""	""	""	"ACTC1(NM_005159.4):c.974G>A (p.S325N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806642"	"0"	"50"	"15"	"35084642"	"35084642"	"subst"	"0"	"02326"	"ACTC1_000183"	"g.35084642G>A"	""	""	""	"ACTC1(NM_005159.4):c.583C>T (p.L195F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853981"	"0"	"10"	"15"	"35082616"	"35082616"	"subst"	"0.0000162431"	"02330"	"ACTC1_000027"	"g.35082616G>A"	""	""	""	"ACTC1(NM_005159.4):c.1131C>T (p.F377=), ACTC1(NM_005159.5):c.1131C>T (p.F377=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000853982"	"0"	"50"	"15"	"35083338"	"35083338"	"subst"	"0"	"02330"	"ACTC1_000030"	"g.35083338C>A"	""	""	""	"ACTC1(NM_005159.4):c.967G>T (p.A323S), ACTC1(NM_005159.5):c.967G>T (p.A323S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853983"	"0"	"30"	"15"	"35083504"	"35083504"	"subst"	"0.0000431429"	"02327"	"ACTC1_000184"	"g.35083504C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853984"	"0"	"10"	"15"	"35083541"	"35083554"	"del"	"0"	"02325"	"ACTC1_000035"	"g.35083541_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-26_809-13delTGTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-26_809-13delTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000853985"	"0"	"10"	"15"	"35083541"	"35083554"	"dup"	"0"	"02330"	"ACTC1_000185"	"g.35083541_35083554dup"	""	""	""	"ACTC1(NM_005159.5):c.809-26_809-13dupTGTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000853986"	"0"	"10"	"15"	"35083543"	"35083554"	"del"	"0"	"02325"	"ACTC1_000034"	"g.35083543_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-24_809-13delTGTGTGTGTGTG, ACTC1(NM_005159.5):c.809-24_809-13delTGTGTGTGTGTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000853987"	"0"	"10"	"15"	"35083553"	"35083554"	"del"	"0"	"02325"	"ACTC1_000111"	"g.35083553_35083554del"	""	""	""	"ACTC1(NM_005159.4):c.809-14_809-13delTG, ACTC1(NM_005159.5):c.809-14_809-13delTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000853988"	"0"	"90"	"15"	"35084360"	"35084360"	"subst"	"0"	"01943"	"ACTC1_000186"	"g.35084360C>T"	""	""	""	"ACTC1(NM_005159.4):c.739G>A (p.G247S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000853989"	"0"	"50"	"15"	"35084464"	"35084464"	"subst"	"0"	"02327"	"ACTC1_000157"	"g.35084464C>T"	""	""	""	"ACTC1(NM_005159.4):c.635G>A (p.R212H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853990"	"0"	"30"	"15"	"35084489"	"35084489"	"subst"	"0.0000406081"	"02326"	"ACTC1_000137"	"g.35084489A>G"	""	""	""	"ACTC1(NM_005159.4):c.617-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853991"	"0"	"30"	"15"	"35085567"	"35085567"	"subst"	"0.0000609167"	"02327"	"ACTC1_000188"	"g.35085567C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853992"	"0"	"70"	"15"	"35086934"	"35086934"	"subst"	"0"	"01943"	"ACTC1_000173"	"g.35086934C>T"	""	""	""	"ACTC1(NM_005159.4):c.76G>A (p.D26N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000853993"	"0"	"70"	"15"	"35086990"	"35086990"	"subst"	"0"	"02327"	"ACTC1_000189"	"g.35086990G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000863797"	"0"	"50"	"15"	"35084710"	"35084710"	"subst"	"0"	"01943"	"ACTC1_000187"	"g.35084710G>A"	""	""	""	"ACTC1(NM_005159.4):c.515C>T (p.A172V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000892006"	"0"	"50"	"15"	"35082682"	"35082683"	"ins"	"0"	"02330"	"ACTC1_000190"	"g.35082682_35082683insG"	""	""	""	"ACTC1(NM_005159.5):c.1064_1065insC (p.Q355Hfs*6)"	"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 ACTC1
## Count = 229
"{{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}}"
"0000005446"	"00001126"	"30"	"808"	"76"	"808"	"76"	"c.808+76G>C"	"r.(=)"	"p.(=)"	"5i"
"0000058960"	"00001126"	"70"	"251"	"0"	"251"	"0"	"c.251T>C"	"r.(?)"	"p.(Met84Thr)"	"3"
"0000060731"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060732"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060733"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060734"	"00001126"	"90"	"496"	"0"	"496"	"0"	"c.496C>G"	"r.(?)"	"p.(Pro166Ala)"	"4"
"0000060735"	"00001126"	"90"	"503"	"0"	"503"	"0"	"c.503A>G"	"r.(?)"	"p.(Tyr168Cys)"	"4"
"0000060736"	"00001126"	"90"	"695"	"0"	"695"	"0"	"c.695C>T"	"r.(?)"	"p.(Ala234Val)"	"5"
"0000060737"	"00001126"	"90"	"889"	"0"	"889"	"0"	"c.889G>T"	"r.(?)"	"p.(Ala297Ser)"	"6"
"0000060738"	"00001126"	"90"	"919"	"0"	"919"	"0"	"c.919A>C"	"r.(?)"	"p.(Met307Leu)"	"6"
"0000060739"	"00001126"	"90"	"997"	"0"	"997"	"0"	"c.997G>C"	"r.(?)"	"p.(Ala333Pro)"	"7"
"0000060740"	"00001126"	"90"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.(Arg314His)"	"6"
"0000060741"	"00001126"	"90"	"1088"	"0"	"1088"	"0"	"c.1088A>G"	"r.(?)"	"p.(Glu363Gly)"	"7"
"0000060742"	"00001126"	"10"	"1053"	"0"	"1053"	"0"	"c.1053G>C"	"r.(?)"	"p.(=)"	"7"
"0000060743"	"00001126"	"10"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(=)"	"7"
"0000060744"	"00001126"	"10"	"1154"	"0"	"1154"	"0"	"c.*20T>A"	"r.(?)"	"p.(=)"	"7"
"0000060745"	"00001126"	"90"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(His90Tyr)"	"3"
"0000060746"	"00001126"	"90"	"289"	"0"	"289"	"0"	"c.289C>T"	"r.(?)"	"p.(Arg97Cys)"	"3"
"0000060747"	"00001126"	"90"	"373"	"0"	"373"	"0"	"c.373A>G"	"r.(?)"	"p.(Met125Val)"	"3"
"0000060748"	"00001126"	"90"	"373"	"0"	"373"	"0"	"c.373A>G"	"r.(?)"	"p.(Met125Val)"	"3"
"0000060749"	"00001126"	"90"	"215"	"0"	"231"	"0"	"c.215_231del"	"r.(?)"	"p.(Pro72Hisfs*18)"	"3"
"0000060750"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060751"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060752"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060753"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060754"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	"3"
"0000060755"	"00001126"	"90"	"818"	"0"	"818"	"0"	"c.818C>T"	"r.(?)"	"p.(Ser273Phe)"	"6"
"0000060756"	"00001126"	"10"	"1053"	"0"	"1053"	"0"	"c.1053G>C"	"r.(?)"	"p.(=)"	"7"
"0000060757"	"00001126"	"10"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(=)"	"7"
"0000060758"	"00001126"	"10"	"1154"	"0"	"1154"	"0"	"c.*20T>A"	"r.(?)"	"p.(=)"	"7"
"0000060759"	"00001126"	"70"	"275"	"0"	"277"	"0"	"c.275_277del"	"r.(?)"	"p.(Phe92del)"	"3"
"0000060760"	"00001126"	"70"	"940"	"0"	"940"	"0"	"c.940C>T"	"r.(?)"	"p.(Arg314Cys)"	"6"
"0000064762"	"00001126"	"70"	"251"	"0"	"251"	"0"	"c.251T>C"	"r.(?)"	"p.(Met84Thr)"	"3"
"0000095820"	"00001126"	"50"	"361"	"0"	"361"	"0"	"c.361A>G"	"r.(?)"	"p.(Met121Val)"	"3"
"0000175207"	"00001126"	"90"	"707"	"0"	"707"	"0"	"c.707C>T"	"r.(?)"	"p.(Ser236Phe)"	"5"
"0000175208"	"00001126"	"90"	"992"	"0"	"992"	"0"	"c.992T>A"	"r.(?)"	"p.(Ile331Asn)"	"7"
"0000247299"	"00001126"	"10"	"927"	"0"	"927"	"0"	"c.927T>C"	"r.(?)"	"p.(Pro309=)"	""
"0000250667"	"00001126"	"10"	"927"	"0"	"927"	"0"	"c.927T>C"	"r.(?)"	"p.(Pro309=)"	""
"0000252417"	"00001126"	"70"	"920"	"0"	"920"	"0"	"c.920T>C"	"r.(?)"	"p.(Met307Thr)"	""
"0000253019"	"00001126"	"10"	"927"	"0"	"927"	"0"	"c.927T>C"	"r.(?)"	"p.(Pro309=)"	""
"0000254943"	"00001126"	"30"	"537"	"0"	"537"	"0"	"c.537T>A"	"r.(?)"	"p.(Arg179=)"	""
"0000257179"	"00001126"	"10"	"1139"	"0"	"1139"	"0"	"c.*5C>G"	"r.(=)"	"p.(=)"	""
"0000257181"	"00001126"	"10"	"129"	"6"	"129"	"6"	"c.129+6C>G"	"r.(=)"	"p.(=)"	""
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"0000257184"	"00001126"	"10"	"423"	"0"	"423"	"0"	"c.423G>A"	"r.(?)"	"p.(Val141=)"	""
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"0000257186"	"00001126"	"50"	"455"	"-6"	"455"	"-6"	"c.455-6G>A"	"r.(=)"	"p.(=)"	""
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"0000257188"	"00001126"	"30"	"702"	"0"	"707"	"0"	"c.702_707del"	"r.(?)"	"p.(Ser236_Ser237del)"	""
"0000257189"	"00001126"	"10"	"795"	"0"	"795"	"0"	"c.795G>A"	"r.(?)"	"p.(Gln265=)"	""
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"0000257195"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13dup"	"r.(=)"	"p.(=)"	""
"0000257196"	"00001126"	"30"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13dup"	"r.(=)"	"p.(=)"	""
"0000257197"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13dup"	"r.(=)"	"p.(=)"	""
"0000257198"	"00001126"	"10"	"809"	"-20"	"809"	"-13"	"c.809-20_809-13dup"	"r.(=)"	"p.(=)"	""
"0000257199"	"00001126"	"30"	"809"	"-22"	"809"	"-13"	"c.809-22_809-13dup"	"r.(=)"	"p.(=)"	""
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"0000257201"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13insTGTG"	"r.(=)"	"p.(=)"	""
"0000257202"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13insTGTGTG"	"r.(=)"	"p.(=)"	""
"0000257203"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13del"	"r.(=)"	"p.(=)"	""
"0000257209"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13del"	"r.(=)"	"p.(=)"	""
"0000257215"	"00001126"	"10"	"809"	"-20"	"809"	"-13"	"c.809-20_809-13del"	"r.(=)"	"p.(=)"	""
"0000257220"	"00001126"	"10"	"809"	"-24"	"809"	"-13"	"c.809-24_809-13del"	"r.(=)"	"p.(=)"	""
"0000257224"	"00001126"	"10"	"809"	"-26"	"809"	"-13"	"c.809-26_809-13del"	"r.(=)"	"p.(=)"	""
"0000257228"	"00001126"	"10"	"809"	"-28"	"809"	"-13"	"c.809-28_809-13del"	"r.(=)"	"p.(=)"	""
"0000257241"	"00001126"	"10"	"809"	"-22"	"809"	"-13"	"c.809-22_809-13del"	"r.(=)"	"p.(=)"	""
"0000257249"	"00001126"	"10"	"809"	"-32"	"809"	"-13"	"c.809-32_809-13del"	"r.(=)"	"p.(=)"	""
"0000257250"	"00001126"	"10"	"809"	"-30"	"809"	"-13"	"c.809-30_809-13del"	"r.(=)"	"p.(=)"	""
"0000257252"	"00001126"	"50"	"821"	"0"	"821"	"0"	"c.821C>T"	"r.(?)"	"p.(Ala274Val)"	""
"0000258715"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13del"	"r.(=)"	"p.(=)"	""
"0000258716"	"00001126"	"10"	"809"	"-30"	"809"	"-13"	"c.809-30_809-13del"	"r.(=)"	"p.(=)"	""
"0000258914"	"00001126"	"10"	"809"	"-28"	"809"	"-13"	"c.809-28_809-13del"	"r.(=)"	"p.(=)"	""
"0000258915"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13del"	"r.(=)"	"p.(=)"	""
"0000259382"	"00001126"	"30"	"129"	"23"	"129"	"23"	"c.129+23dup"	"r.(=)"	"p.(=)"	""
"0000259383"	"00001126"	"30"	"129"	"19"	"129"	"20"	"c.129+19_129+20insT"	"r.(=)"	"p.(=)"	""
"0000259384"	"00001126"	"30"	"455"	"-7"	"455"	"-7"	"c.455-7C>T"	"r.(=)"	"p.(=)"	""
"0000259385"	"00001126"	"30"	"809"	"-17"	"809"	"-13"	"c.809-17_809-13del"	"r.(=)"	"p.(=)"	""
"0000259386"	"00001126"	"30"	"809"	"-30"	"809"	"-18"	"c.809-30_809-18del"	"r.(=)"	"p.(=)"	""
"0000259593"	"00001126"	"50"	"821"	"0"	"821"	"0"	"c.821C>T"	"r.(?)"	"p.(Ala274Val)"	""
"0000259611"	"00001126"	"50"	"622"	"0"	"622"	"0"	"c.622C>T"	"r.(?)"	"p.(Arg208Cys)"	""
"0000259612"	"00001126"	"50"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Ala323Ser)"	""
"0000259735"	"00001126"	"90"	"308"	"0"	"308"	"0"	"c.308A>G"	"r.(?)"	"p.(His103Arg)"	""
"0000260500"	"00001126"	"70"	"503"	"0"	"503"	"0"	"c.503A>G"	"r.(?)"	"p.(Tyr168Cys)"	""
"0000260501"	"00001126"	"10"	"503"	"0"	"503"	"0"	"c.503A>T"	"r.(?)"	"p.(Tyr168Phe)"	""
"0000260502"	"00001126"	"50"	"622"	"0"	"622"	"0"	"c.622C>T"	"r.(?)"	"p.(Arg208Cys)"	""
"0000260503"	"00001126"	"70"	"725"	"0"	"725"	"0"	"c.725A>G"	"r.(?)"	"p.(Tyr242Cys)"	""
"0000260504"	"00001126"	"30"	"809"	"-28"	"809"	"-13"	"c.809-28_809-13del"	"r.(=)"	"p.(=)"	""
"0000260505"	"00001126"	"30"	"809"	"-26"	"809"	"-13"	"c.809-26_809-13del"	"r.(=)"	"p.(=)"	""
"0000260506"	"00001126"	"30"	"809"	"-30"	"809"	"-13"	"c.809-30_809-13del"	"r.(=)"	"p.(=)"	""
"0000260508"	"00001126"	"90"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Met271Val)"	""
"0000260509"	"00001126"	"30"	"990"	"64"	"990"	"64"	"c.990+64C>T"	"r.(=)"	"p.(=)"	""
"0000261835"	"00001126"	"10"	"1156"	"0"	"1156"	"0"	"c.*22C>T"	"r.(=)"	"p.(=)"	""
"0000261836"	"00001126"	"30"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(Tyr364=)"	""
"0000261837"	"00001126"	"10"	"1131"	"0"	"1131"	"0"	"c.1131C>T"	"r.(?)"	"p.(Phe377=)"	""
"0000261840"	"00001126"	"30"	"204"	"0"	"204"	"0"	"c.204C>T"	"r.(?)"	"p.(Thr68=)"	""
"0000261842"	"00001126"	"30"	"219"	"0"	"219"	"0"	"c.219C>T"	"r.(?)"	"p.(Ile73=)"	""
"0000261843"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	""
"0000261844"	"00001126"	"90"	"383"	"0"	"383"	"0"	"c.383C>T"	"r.(?)"	"p.(Thr128Ile)"	""
"0000261845"	"00001126"	"30"	"454"	"9"	"454"	"9"	"c.454+9G>A"	"r.(=)"	"p.(=)"	""
"0000261846"	"00001126"	"10"	"808"	"30"	"808"	"30"	"c.808+30G>A"	"r.(=)"	"p.(=)"	""
"0000261848"	"00001126"	"90"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Met271Val)"	""
"0000261849"	"00001126"	"30"	"978"	"0"	"978"	"0"	"c.978C>T"	"r.(?)"	"p.(Thr326=)"	""
"0000405585"	"00001126"	"90"	"1088"	"0"	"1088"	"0"	"c.1088A>G"	"r.(?)"	"p.Glu363Gly"	"7"
"0000405586"	"00001126"	"90"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.Arg314His"	"6"
"0000405587"	"00001126"	"90"	"997"	"0"	"997"	"0"	"c.997G>C"	"r.(?)"	"p.Ala333Pro"	"7"
"0000405588"	"00001126"	"30"	"496"	"0"	"496"	"0"	"c.496C>G"	"r.(?)"	"p.Pro166Ala"	"4"
"0000554039"	"00001126"	"50"	"38499"	"0"	"38499"	"0"	"c.*37365G>A"	"r.(=)"	"p.(=)"	""
"0000554040"	"00001126"	"30"	"2009"	"0"	"2009"	"0"	"c.*875G>C"	"r.(=)"	"p.(=)"	""
"0000554041"	"00001126"	"30"	"2002"	"0"	"2002"	"0"	"c.*868T>G"	"r.(=)"	"p.(=)"	""
"0000554042"	"00001126"	"30"	"1322"	"0"	"1322"	"0"	"c.*188G>T"	"r.(=)"	"p.(=)"	""
"0000554043"	"00001126"	"50"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Asp365Asn)"	""
"0000554044"	"00001126"	"30"	"991"	"-10"	"991"	"-8"	"c.991-10_991-8del"	"r.(=)"	"p.(=)"	""
"0000554045"	"00001126"	"50"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Ala323Ser)"	""
"0000554046"	"00001126"	"10"	"927"	"0"	"927"	"0"	"c.927T>C"	"r.(?)"	"p.(Pro309=)"	""
"0000554047"	"00001126"	"70"	"813"	"0"	"813"	"0"	"c.813G>A"	"r.(?)"	"p.(Met271Ile)"	""
"0000554048"	"00001126"	"30"	"809"	"-11"	"809"	"-11"	"c.809-11C>G"	"r.(=)"	"p.(=)"	""
"0000554049"	"00001126"	"10"	"809"	"-12"	"809"	"-12"	"c.809-12A>T"	"r.(=)"	"p.(=)"	""
"0000554050"	"00001126"	"30"	"809"	"-11"	"809"	"-10"	"c.809-11_809-10insACAC"	"r.(=)"	"p.(=)"	""
"0000554051"	"00001126"	"10"	"809"	"-13"	"809"	"-12"	"c.809-13_809-12insTGA"	"r.(=)"	"p.(=)"	""
"0000554052"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13insTGTGTGTG"	"r.(=)"	"p.(=)"	""
"0000554053"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13insTGTGTGTGTG"	"r.(=)"	"p.(=)"	""
"0000554055"	"00001126"	"10"	"809"	"-33"	"809"	"-15"	"c.809-33_809-15del"	"r.(=)"	"p.(=)"	""
"0000554058"	"00001126"	"10"	"809"	"-30"	"809"	"-13"	"c.809-30_809-13del"	"r.(=)"	"p.(=)"	""
"0000554059"	"00001126"	"10"	"809"	"-28"	"809"	"-13"	"c.809-28_809-13del"	"r.(=)"	"p.(=)"	""
"0000554060"	"00001126"	"30"	"809"	"-26"	"809"	"-13"	"c.809-26_809-13del"	"r.(=)"	"p.(=)"	""
"0000554061"	"00001126"	"30"	"809"	"-24"	"809"	"-13"	"c.809-24_809-13del"	"r.(=)"	"p.(=)"	""
"0000554062"	"00001126"	"30"	"809"	"-20"	"809"	"-13"	"c.809-20_809-13del"	"r.(=)"	"p.(=)"	""
"0000554063"	"00001126"	"30"	"809"	"-20"	"809"	"-13"	"c.809-20_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554064"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13del"	"r.(=)"	"p.(=)"	""
"0000554065"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554066"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554067"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13del"	"r.(=)"	"p.(=)"	""
"0000554068"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13del"	"r.(=)"	"p.(=)"	""
"0000554069"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554070"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554071"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13del"	"r.(=)"	"p.(=)"	""
"0000554072"	"00001126"	"30"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13del"	"r.(=)"	"p.(=)"	""
"0000554073"	"00001126"	"30"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554074"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554075"	"00001126"	"30"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13dup"	"r.(=)"	"p.(=)"	""
"0000554076"	"00001126"	"50"	"623"	"0"	"623"	"0"	"c.623G>A"	"r.(?)"	"p.(Arg208His)"	""
"0000554078"	"00001126"	"30"	"617"	"-7"	"617"	"-7"	"c.617-7T>C"	"r.(=)"	"p.(=)"	""
"0000554079"	"00001126"	"50"	"541"	"0"	"541"	"0"	"c.541G>C"	"r.(?)"	"p.(Asp181His)"	""
"0000554080"	"00001126"	"30"	"537"	"0"	"537"	"0"	"c.537T>A"	"r.(?)"	"p.(Arg179=)"	""
"0000554081"	"00001126"	"10"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Gly152=)"	""
"0000554082"	"00001126"	"50"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Gly152=)"	""
"0000554083"	"00001126"	"30"	"447"	"0"	"447"	"0"	"c.447T>C"	"r.(?)"	"p.(Arg149=)"	""
"0000554084"	"00001126"	"70"	"383"	"0"	"383"	"0"	"c.383C>T"	"r.(?)"	"p.(Thr128Ile)"	""
"0000554085"	"00001126"	"50"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Met121Thr)"	""
"0000554086"	"00001126"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Asn94Ser)"	""
"0000554087"	"00001126"	"10"	"219"	"0"	"219"	"0"	"c.219C>T"	"r.(?)"	"p.(Ile73=)"	""
"0000554088"	"00001126"	"10"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Tyr55=)"	""
"0000554089"	"00001126"	"30"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Tyr55=)"	""
"0000554090"	"00001126"	"30"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Tyr55=)"	""
"0000554091"	"00001126"	"30"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Tyr55=)"	""
"0000554092"	"00001126"	"30"	"129"	"32"	"129"	"32"	"c.129+32C>A"	"r.(=)"	"p.(=)"	""
"0000554093"	"00001126"	"10"	"129"	"19"	"129"	"20"	"c.129+19_129+20insT"	"r.(=)"	"p.(=)"	""
"0000554094"	"00001126"	"10"	"129"	"19"	"129"	"20"	"c.129+19_129+20insT"	"r.(=)"	"p.(=)"	""
"0000554095"	"00001126"	"10"	"129"	"23"	"129"	"23"	"c.129+23dup"	"r.(=)"	"p.(=)"	""
"0000554096"	"00001126"	"10"	"129"	"23"	"129"	"23"	"c.129+23dup"	"r.(=)"	"p.(=)"	""
"0000554097"	"00001126"	"30"	"129"	"16"	"129"	"17"	"c.129+16_129+17insC"	"r.(=)"	"p.(=)"	""
"0000554098"	"00001126"	"50"	"129"	"0"	"129"	"0"	"c.129G>A"	"r.(?)"	"p.(Gln43=)"	""
"0000554099"	"00001126"	"30"	"66"	"0"	"66"	"0"	"c.66C>T"	"r.(?)"	"p.(Gly22=)"	""
"0000554100"	"00001126"	"50"	"31"	"0"	"31"	"0"	"c.31G>A"	"r.(?)"	"p.(Val11Met)"	""
"0000554101"	"00001126"	"50"	"10"	"0"	"10"	"0"	"c.10G>A"	"r.(?)"	"p.(Asp4Asn)"	""
"0000615236"	"00001126"	"50"	"1123"	"0"	"1123"	"0"	"c.1123A>C"	"r.(?)"	"p.(Lys375Gln)"	""
"0000615237"	"00001126"	"70"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.(Arg314His)"	""
"0000615238"	"00001126"	"30"	"930"	"0"	"930"	"0"	"c.930T>C"	"r.(?)"	"p.(Gly310=)"	""
"0000615239"	"00001126"	"30"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13dup"	"r.(=)"	"p.(=)"	""
"0000615240"	"00001126"	"10"	"809"	"-16"	"809"	"-13"	"c.809-16_809-13dup"	"r.(=)"	"p.(=)"	""
"0000615241"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13dup"	"r.(=)"	"p.(=)"	""
"0000615242"	"00001126"	"30"	"447"	"0"	"447"	"0"	"c.447T>C"	"r.(?)"	"p.(Arg149=)"	""
"0000615243"	"00001126"	"50"	"101"	"0"	"101"	"0"	"c.101C>T"	"r.(?)"	"p.(Pro34Leu)"	""
"0000623214"	"00001126"	"10"	"809"	"-18"	"809"	"-13"	"c.809-18_809-13del"	"r.(=)"	"p.(=)"	""
"0000623215"	"00001126"	"50"	"274"	"0"	"279"	"0"	"c.274_279del"	"r.(?)"	"p.(Phe92_Tyr93del)"	""
"0000649040"	"00001126"	"70"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000649041"	"00001126"	"50"	"695"	"0"	"695"	"0"	"c.695C>T"	"r.(?)"	"p.(Ala232Val)"	""
"0000657553"	"00001126"	"30"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Gly152=)"	""
"0000680148"	"00001126"	"30"	"393"	"0"	"393"	"0"	"c.393C>T"	"r.(?)"	"p.(Val131=)"	""
"0000680149"	"00001126"	"30"	"240"	"0"	"240"	"0"	"c.240C>T"	"r.(?)"	"p.(Asn80=)"	""
"0000691779"	"00001126"	"50"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.(?)"	"p.(Arg212His)"	""
"0000691780"	"00001126"	"30"	"454"	"7"	"454"	"7"	"c.454+7T>C"	"r.(=)"	"p.(=)"	""
"0000699991"	"00001126"	"50"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Asp26Asn)"	""
"0000699992"	"00001126"	"50"	"110"	"0"	"110"	"0"	"c.110T>C"	"r.(?)"	"p.(Val37Ala)"	""
"0000699993"	"00001126"	"50"	"124"	"0"	"124"	"0"	"c.124C>T"	"r.(?)"	"p.(His42Tyr)"	""
"0000699994"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	""
"0000699995"	"00001126"	"50"	"752"	"0"	"752"	"0"	"c.752C>G"	"r.(?)"	"p.(Thr251Ser)"	""
"0000699996"	"00001126"	"50"	"797"	"0"	"797"	"0"	"c.797C>T"	"r.(?)"	"p.(Pro266Leu)"	""
"0000699997"	"00001126"	"50"	"850"	"0"	"850"	"0"	"c.850A>T"	"r.(?)"	"p.(Ile284Phe)"	""
"0000699998"	"00001126"	"50"	"1069"	"0"	"1069"	"0"	"c.1069A>G"	"r.(?)"	"p.(Met357Val)"	""
"0000699999"	"00001126"	"50"	"1099"	"0"	"1099"	"0"	"c.1099G>A"	"r.(?)"	"p.(Ala367Thr)"	""
"0000700865"	"00001126"	"50"	"28"	"0"	"28"	"0"	"c.28C>A"	"r.(?)"	"p.(Leu10Met)"	""
"0000700866"	"00001126"	"50"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Asp26Asn)"	""
"0000700867"	"00001126"	"50"	"83"	"0"	"83"	"0"	"c.83C>T"	"r.(?)"	"p.(Ala28Val)"	""
"0000700868"	"00001126"	"50"	"229"	"0"	"229"	"0"	"c.229A>G"	"r.(?)"	"p.(Ile77Val)"	""
"0000700869"	"00001126"	"50"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(His90Tyr)"	""
"0000700870"	"00001126"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Glu101Lys)"	""
"0000700871"	"00001126"	"70"	"793"	"0"	"793"	"0"	"c.793C>G"	"r.(?)"	"p.(Gln265Glu)"	""
"0000700872"	"00001126"	"50"	"850"	"0"	"850"	"0"	"c.850A>T"	"r.(?)"	"p.(Ile284Phe)"	""
"0000701493"	"00001126"	"50"	"7"	"0"	"7"	"0"	"c.7G>C"	"r.(?)"	"p.(Asp3His)"	""
"0000701494"	"00001126"	"50"	"355"	"0"	"355"	"0"	"c.355G>C"	"r.(?)"	"p.(Glu119Gln)"	""
"0000701495"	"00001126"	"50"	"475"	"0"	"475"	"0"	"c.475G>A"	"r.(?)"	"p.(Asp159Asn)"	""
"0000701496"	"00001126"	"50"	"616"	"1"	"616"	"1"	"c.616+1G>A"	"r.spl"	"p.?"	""
"0000701497"	"00001126"	"50"	"806"	"0"	"806"	"0"	"c.806T>C"	"r.(?)"	"p.(Ile269Thr)"	""
"0000725046"	"00001126"	"50"	"1017"	"0"	"1017"	"0"	"c.1017C>A"	"r.(?)"	"p.(Tyr339*)"	""
"0000725047"	"00001126"	"50"	"401"	"0"	"401"	"0"	"c.401T>C"	"r.(?)"	"p.(Met134Thr)"	""
"0000725048"	"00001126"	"10"	"399"	"0"	"399"	"0"	"c.399C>T"	"r.(?)"	"p.(Ala133=)"	""
"0000725049"	"00001126"	"50"	"250"	"0"	"250"	"0"	"c.250A>T"	"r.(?)"	"p.(Met84Leu)"	""
"0000725050"	"00001126"	"30"	"-23"	"15"	"-23"	"15"	"c.-23+15G>T"	"r.(=)"	"p.(=)"	""
"0000787493"	"00001126"	"70"	"107"	"0"	"120"	"0"	"c.107_120delinsC"	"r.(?)"	"p.(Ile36ThrfsTer17)"	""
"0000790036"	"00001126"	"70"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.(Arg314His)"	""
"0000806641"	"00001126"	"50"	"974"	"0"	"974"	"0"	"c.974G>A"	"r.(?)"	"p.(Ser325Asn)"	""
"0000806642"	"00001126"	"50"	"583"	"0"	"583"	"0"	"c.583C>T"	"r.(?)"	"p.(Leu195Phe)"	""
"0000853981"	"00001126"	"10"	"1131"	"0"	"1131"	"0"	"c.1131C>T"	"r.(?)"	"p.(Phe377=)"	""
"0000853982"	"00001126"	"50"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Ala323Ser)"	""
"0000853983"	"00001126"	"30"	"809"	"-8"	"809"	"-8"	"c.809-8G>A"	"r.(=)"	"p.(=)"	""
"0000853984"	"00001126"	"10"	"809"	"-26"	"809"	"-13"	"c.809-26_809-13del"	"r.(=)"	"p.(=)"	""
"0000853985"	"00001126"	"10"	"809"	"-26"	"809"	"-13"	"c.809-26_809-13dup"	"r.(=)"	"p.(=)"	""
"0000853986"	"00001126"	"10"	"809"	"-24"	"809"	"-13"	"c.809-24_809-13del"	"r.(=)"	"p.(=)"	""
"0000853987"	"00001126"	"10"	"809"	"-14"	"809"	"-13"	"c.809-14_809-13del"	"r.(=)"	"p.(=)"	""
"0000853988"	"00001126"	"90"	"739"	"0"	"739"	"0"	"c.739G>A"	"r.(?)"	"p.(Gly247Ser)"	""
"0000853989"	"00001126"	"50"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.(?)"	"p.(Arg212His)"	""
"0000853990"	"00001126"	"30"	"617"	"-7"	"617"	"-7"	"c.617-7T>C"	"r.(=)"	"p.(=)"	""
"0000853991"	"00001126"	"30"	"333"	"0"	"333"	"0"	"c.333G>A"	"r.(?)"	"p.(Pro111=)"	""
"0000853992"	"00001126"	"70"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Asp26Asn)"	""
"0000853993"	"00001126"	"70"	"20"	"0"	"20"	"0"	"c.20C>T"	"r.(?)"	"p.(Thr7Ile)"	""
"0000863797"	"00001126"	"50"	"515"	"0"	"515"	"0"	"c.515C>T"	"r.(?)"	"p.(Ala172Val)"	""
"0000892006"	"00001126"	"50"	"1064"	"0"	"1065"	"0"	"c.1064_1065insC"	"r.(?)"	"p.(Gln355Hisfs*6)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 62
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000005446"
"0000032787"	"0000058960"
"0000033885"	"0000060731"
"0000033886"	"0000060732"
"0000033887"	"0000060733"
"0000033888"	"0000060734"
"0000033889"	"0000060735"
"0000033890"	"0000060736"
"0000033891"	"0000060737"
"0000033892"	"0000060738"
"0000033893"	"0000060739"
"0000033894"	"0000060740"
"0000033895"	"0000060741"
"0000033896"	"0000060742"
"0000033897"	"0000060743"
"0000033898"	"0000060744"
"0000033899"	"0000060745"
"0000033900"	"0000060746"
"0000033901"	"0000060747"
"0000033902"	"0000060748"
"0000033903"	"0000060749"
"0000033904"	"0000060750"
"0000033905"	"0000060751"
"0000033906"	"0000060752"
"0000033907"	"0000060753"
"0000033908"	"0000060754"
"0000033909"	"0000060755"
"0000033910"	"0000060756"
"0000033911"	"0000060757"
"0000033912"	"0000060758"
"0000033913"	"0000060759"
"0000033914"	"0000060760"
"0000037612"	"0000064762"
"0000064363"	"0000095820"
"0000109115"	"0000175207"
"0000109116"	"0000175208"
"0000292351"	"0000649040"
"0000292352"	"0000649041"
"0000317385"	"0000699991"
"0000317386"	"0000699992"
"0000317387"	"0000699993"
"0000317388"	"0000699994"
"0000317389"	"0000699995"
"0000317390"	"0000699996"
"0000317391"	"0000699997"
"0000317392"	"0000699998"
"0000317393"	"0000699999"
"0000318259"	"0000700865"
"0000318260"	"0000700866"
"0000318261"	"0000700867"
"0000318262"	"0000700868"
"0000318263"	"0000700869"
"0000318264"	"0000700870"
"0000318265"	"0000700871"
"0000318266"	"0000700872"
"0000318887"	"0000701493"
"0000318888"	"0000701494"
"0000318889"	"0000701495"
"0000318890"	"0000701496"
"0000318891"	"0000701497"
"0000375554"	"0000787493"
"0000377631"	"0000790036"